#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_match_norm_validation_allele1	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_tumor_sample
UBR4	23352	broad.mit.edu	37	1	19487443	19487443	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr1:19487443C>T	ENST00000375254.3	-	38	5401	c.5374G>A	c.(5374-5376)Gta>Ata	p.V1792I	UBR4_ENST00000375226.2_Missense_Mutation_p.V1792I|UBR4_ENST00000375267.2_Missense_Mutation_p.V1792I|UBR4_ENST00000375217.2_Missense_Mutation_p.V1792I	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1792					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CAGCCCTCTACTGTGCGGCAG	0.542																																						uc001bbi.2		NaN																	0				kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25						c.(5374-5376)GTA>ATA		retinoblastoma-associated factor 600							54.0	52.0	53.0					1																	19487443		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19487443C>T	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.5374G>A	1.37:g.19487443C>T	ENSP00000364403:p.Val1792Ile					UBR4_uc001bbm.1_Missense_Mutation_p.V1003I	p.V1792I	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	38	5378	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	1792					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.5374G>A	CCDS189.1	.	.	.	.	.	.	.	.	.	.	C	11.39	1.624867	0.28889	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000417040;ENST00000419533	T;T;T;T	0.22134	1.99;1.99;1.97;1.98	5.78	5.78	0.91487	.	0.061993	0.64402	D	0.000004	T	0.07234	0.0183	N	0.00729	-1.24	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.35201	-0.9798	10	0.32370	T	0.25	.	13.235	0.59965	0.0:0.9278:0.0:0.0722	.	1792	Q5T4S7	UBR4_HUMAN	I	1792;1792;1792;1792;502;1008	ENSP00000364403:V1792I;ENSP00000364416:V1792I;ENSP00000364365:V1792I;ENSP00000364374:V1792I	ENSP00000364365:V1792I	V	-	1	0	UBR4	19360030	1.000000	0.71417	0.994000	0.49952	0.998000	0.95712	5.587000	0.67510	2.749000	0.94314	0.655000	0.94253	GTA		0.542	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1		NM_020765		7	46	0	0	0	0.001984	0	7	46		
MRTO4	51154	broad.mit.edu	37	1	19584362	19584362	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr1:19584362G>C	ENST00000330263.4	+	6	674	c.377G>C	c.(376-378)cGa>cCa	p.R126P		NM_016183.3	NP_057267.2	Q9UKD2	MRT4_HUMAN	mRNA turnover 4 homolog (S. cerevisiae)	126					ribosome biogenesis (GO:0042254)	nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R126Q(2)		breast(1)|endometrium(1)|large_intestine(1)|liver(2)|ovary(1)|pancreas(1)|stomach(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GACTACGCCCGAGCTGGTAAC	0.592																																					GBM(192;2418 3032 7540 48714)	uc001bbs.2		NaN																	2	Substitution - Missense(2)		liver(2)		0						c.(376-378)CGA>CCA		mRNA turnover 4 homolog							83.0	85.0	85.0					1																	19584362		2203	4300	6503	SO:0001583	missense	51154				ribosome biogenesis	nuclear membrane|nucleolus		g.chr1:19584362G>C	AK027569	CCDS191.1	1p36.13	2008-02-05	2006-12-21	2007-01-05	ENSG00000053372	ENSG00000053372			18477	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 33"", ""MRT4, mRNA turnover 4, homolog (S. cerevisiae)"""	C1orf33			Standard	NM_016183		Approved	dJ657E11.4, MRT4	uc001bbs.3	Q9UKD2	OTTHUMG00000002496	ENST00000330263.4:c.377G>C	1.37:g.19584362G>C	ENSP00000364320:p.Arg126Pro						p.R126P	NM_016183	NP_057267	Q9UKD2	MRT4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	6	632	+		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	126					B3KNB3|Q5TG55|Q96SS6|Q9BPV9	Missense_Mutation	SNP	ENST00000330263.4	37	c.377G>C	CCDS191.1	.	.	.	.	.	.	.	.	.	.	G	18.32	3.599145	0.66332	.	.	ENSG00000053372	ENST00000330263	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.72946	0.3524	M	0.81802	2.56	0.80722	D	1	P	0.51057	0.941	P	0.47827	0.558	T	0.77362	-0.2616	9	0.87932	D	0	-3.5878	18.8852	0.92375	0.0:0.0:1.0:0.0	.	126	Q9UKD2	MRT4_HUMAN	P	126	.	ENSP00000364320:R126P	R	+	2	0	MRTO4	19456949	1.000000	0.71417	0.998000	0.56505	0.617000	0.37484	9.231000	0.95317	2.804000	0.96469	0.655000	0.94253	CGA		0.592	MRTO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007075.2		NM_016183		23	123	0	0	0	0.014323	0	23	123		
TAF12	6883	broad.mit.edu	37	1	28931969	28931969	+	Missense_Mutation	SNP	C	C	T	rs376483218		TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr1:28931969C>T	ENST00000263974.4	-	5	799	c.365G>A	c.(364-366)cGc>cAc	p.R122H	TAF12_ENST00000471683.1_5'UTR|TAF12_ENST00000373824.4_Missense_Mutation_p.R122H	NM_001135218.1	NP_001128690.1	Q16514	TAF12_HUMAN	TAF12 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 20kDa	122					chromatin organization (GO:0006325)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of RNA biosynthetic process (GO:2001141)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			ovary(1)|upper_aerodigestive_tract(1)	2		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Renal(390;0.00121)|Breast(348;0.00502)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)		Colorectal(126;3.21e-08)|COAD - Colon adenocarcinoma(152;1.74e-06)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(1967;0.0109)|BRCA - Breast invasive adenocarcinoma(304;0.0228)|READ - Rectum adenocarcinoma(331;0.0649)		GTTCCACTGGCGCTCTGCAAG	0.512																																						uc001bqw.2		NaN																	0				ovary(1)	1						c.(364-366)CGC>CAC		TAF12 RNA polymerase II, TATA box binding		C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	96.0	96.0	96.0		365,365	4.7	1.0	1		96	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	TAF12	NM_001135218.1,NM_005644.3	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	122/162,122/162	28931969	1,13005	2203	4300	6503	SO:0001583	missense	6883				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	PCAF complex|STAGA complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|transcription coactivator activity	g.chr1:28931969C>T	BC011986	CCDS326.1	1p35	2008-02-05	2002-08-29	2001-12-07	ENSG00000120656	ENSG00000120656			11545	protein-coding gene	gene with protein product		600773	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, J, 20kD"""	TAF2J		7729427	Standard	NM_005644		Approved	TAFII20	uc001bqy.3	Q16514	OTTHUMG00000003655	ENST00000263974.4:c.365G>A	1.37:g.28931969C>T	ENSP00000263974:p.Arg122His					TAF12_uc001bqx.2_Missense_Mutation_p.R122H|TAF12_uc001bqy.2_Missense_Mutation_p.R122H|TAF12_uc009vti.2_Missense_Mutation_p.R122H	p.R122H	NM_005644	NP_005635	Q16514	TAF12_HUMAN		Colorectal(126;3.21e-08)|COAD - Colon adenocarcinoma(152;1.74e-06)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(1967;0.0109)|BRCA - Breast invasive adenocarcinoma(304;0.0228)|READ - Rectum adenocarcinoma(331;0.0649)	4	458	-		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Renal(390;0.00121)|Breast(348;0.00502)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)	122					D3DPM5|Q15775|Q5T077	Missense_Mutation	SNP	ENST00000263974.4	37	c.365G>A	CCDS326.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.955140	0.73902	0.0	1.16E-4	ENSG00000120656	ENST00000373824;ENST00000263974	.	.	.	5.65	4.74	0.60224	Histone-fold (2);Transcription initiation factor TFIID (2);	0.050090	0.85682	D	0.000000	T	0.70404	0.3220	M	0.86028	2.79	0.80722	D	1	B;B	0.28998	0.125;0.23	B;B	0.29176	0.06;0.099	T	0.72663	-0.4225	9	0.66056	D	0.02	-2.3658	13.3732	0.60725	0.0:0.9226:0.0:0.0774	.	92;122	Q16514-2;Q16514	.;TAF12_HUMAN	H	122	.	ENSP00000263974:R122H	R	-	2	0	TAF12	28804556	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.355000	0.79434	1.396000	0.46663	0.585000	0.79938	CGC		0.512	TAF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010367.1		NM_005644		14	80	0	0	0	0.020292	0	14	80		
DMRTA2	63950	broad.mit.edu	37	1	50884577	50884577	+	Silent	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr1:50884577G>A	ENST00000404795.3	-	3	1781	c.1389C>T	c.(1387-1389)ctC>ctT	p.L463L	DMRTA2_ENST00000418121.1_Silent_p.L463L	NM_032110.2	NP_115486.1	Q96SC8	DMTA2_HUMAN	DMRT-like family A2	463	Ala-rich.				cerebral cortex regionalization (GO:0021796)|dopaminergic neuron differentiation (GO:0071542)|neuron fate specification (GO:0048665)|positive regulation of neuroblast proliferation (GO:0002052)|skeletal muscle cell differentiation (GO:0035914)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|lung(4)|pancreas(1)	6						GCAGGGGGCTGAGGCCGAGCG	0.756																																					Colon(196;1651 2045 3292 36497 38236)|Esophageal Squamous(2;257 258 11567 27043 43804)	uc010ona.1		NaN																	0					0						c.(1387-1389)CTC>CTT		DMRT-like family A2							2.0	3.0	2.0					1																	50884577		1174	2788	3962	SO:0001819	synonymous_variant	63950				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr1:50884577G>A	AJ301580	CCDS44141.1	1p33	2008-08-04			ENSG00000142700	ENSG00000142700			13908	protein-coding gene	gene with protein product		614804				11863363	Standard	NM_032110		Approved		uc010onb.2	Q96SC8	OTTHUMG00000007884	ENST00000404795.3:c.1389C>T	1.37:g.50884577G>A						DMRTA2_uc010onb.1_Silent_p.L463L	p.L463L	NM_032110	NP_115486	Q96SC8	DMTA2_HUMAN			2	1485	-			463			Ala-rich.		Q5TFQ3	Silent	SNP	ENST00000404795.3	37	c.1389C>T	CCDS44141.1																																																																																				0.756	DMRTA2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351074.1		NM_032110		6	6	0	0	0	0.021553	0	6	6		
PLPPR4	9890	broad.mit.edu	37	1	99771657	99771657	+	Silent	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr1:99771657C>T	ENST00000370185.3	+	7	1880	c.1383C>T	c.(1381-1383)tcC>tcT	p.S461S	LPPR4_ENST00000370184.1_Silent_p.S303S|LPPR4_ENST00000457765.1_Silent_p.S403S	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		461					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		GAAAGTTGTCCTTGCAAGTTA	0.502																																						uc001dse.2		NaN																	0				ovary(3)	3						c.(1381-1383)TCC>TCT		plasticity related gene 1							73.0	72.0	72.0					1																	99771657		2203	4300	6503	SO:0001819	synonymous_variant	9890						phosphatidate phosphatase activity	g.chr1:99771657C>T																												ENST00000370185.3:c.1383C>T	1.37:g.99771657C>T						LPPR4_uc010oue.1_Silent_p.S403S	p.S461S	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)	7	1489	+		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)	461					E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Silent	SNP	ENST00000370185.3	37	c.1383C>T	CCDS757.1																																																																																				0.502	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2				39	94	0	0	0	0.023175	0	39	94		
OLFM3	118427	broad.mit.edu	37	1	102312479	102312479	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr1:102312479C>G	ENST00000338858.5	-	1	50	c.51G>C	c.(49-51)atG>atC	p.M17I	OLFM3_ENST00000370103.4_Intron|OLFM3_ENST00000359814.3_Missense_Mutation_p.M17I|OLFM3_ENST00000462354.1_Intron			Q96PB7	NOE3_HUMAN	olfactomedin 3	17					eye photoreceptor cell development (GO:0042462)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		AGTTTGAGATCATTGCCATGG	0.507																																						uc001duf.2		NaN																	0				ovary(2)|skin(1)	3						c.(49-51)ATG>ATC		olfactomedin 3							138.0	122.0	127.0					1																	102312479		876	1991	2867	SO:0001583	missense	118427					extracellular region		g.chr1:102312479C>G	AF397392	CCDS30781.1, CCDS72832.1	1p22	2008-05-23			ENSG00000118733	ENSG00000118733			17990	protein-coding gene	gene with protein product	"""optimedin"""	607567				12019210, 16115881	Standard	NM_001288821		Approved	NOE3	uc001dug.2	Q96PB7	OTTHUMG00000010941	ENST00000338858.5:c.51G>C	1.37:g.102312479C>G	ENSP00000345192:p.Met17Ile					OLFM3_uc001dug.2_Intron|OLFM3_uc001duh.2_Intron|OLFM3_uc001dui.2_Intron|OLFM3_uc001duj.2_Intron|OLFM3_uc001due.2_RNA	p.M17I	NM_058170	NP_477518	Q96PB7	NOE3_HUMAN		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)	1	122	-		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)	17					Q5T3V6|Q6IMI7|Q6IMI8|Q6IMI9|Q6IMJ1|Q8TBG1|Q96PB2|Q96PB3|Q96PB4|Q96PB5|Q96PB6	Missense_Mutation	SNP	ENST00000338858.5	37	c.51G>C		.	.	.	.	.	.	.	.	.	.	C	18.18	3.567366	0.65651	.	.	ENSG00000118733	ENST00000338858;ENST00000359814	D;T	0.87887	-2.31;0.47	5.41	5.41	0.78517	.	0.472638	0.24698	N	0.036338	T	0.80336	0.4604	.	.	.	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.76990	-0.2754	9	0.72032	D	0.01	.	19.1925	0.93672	0.0:1.0:0.0:0.0	.	17	Q96PB7	NOE3_HUMAN	I	17	ENSP00000345192:M17I;ENSP00000352867:M17I	ENSP00000345192:M17I	M	-	3	0	OLFM3	102085067	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.757000	0.68766	2.539000	0.85634	0.591000	0.81541	ATG		0.507	OLFM3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000030142.1				24	91	0	0	0	0.014323	0	24	91		
STRIP1	85369	broad.mit.edu	37	1	110581817	110581817	+	Silent	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr1:110581817C>T	ENST00000369795.3	+	4	371	c.349C>T	c.(349-351)Ctg>Ttg	p.L117L	STRIP1_ENST00000369794.2_Silent_p.L117L|STRIP1_ENST00000369796.1_Silent_p.L22L	NM_033088.3	NP_149079.2	Q5VSL9	STRP1_HUMAN	striatin interacting protein 1	117					cortical actin cytoskeleton organization (GO:0030866)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)											GTGGACTGAGCTGGATACCAA	0.517																																						uc001dza.1		NaN																	0				ovary(3)|large_intestine(1)	4						c.(349-351)CTG>TTG		hypothetical protein LOC85369							82.0	83.0	82.0					1																	110581817		2203	4300	6503	SO:0001819	synonymous_variant	85369					nucleus	protein binding	g.chr1:110581817C>T	AK027649	CCDS30798.1, CCDS59197.1	1p13.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000143093	ENSG00000143093			25916	protein-coding gene	gene with protein product	"""FAR11 factor arrest 11 homolog A (yeast)"""		"""family with sequence similarity 40, member A"""	FAM40A		11214970, 12588993, 22782902, 22298706, 18782753	Standard	NM_033088		Approved	FLJ14743, KIAA1761, FAR11A	uc001dza.2	Q5VSL9	OTTHUMG00000170607	ENST00000369795.3:c.349C>T	1.37:g.110581817C>T						FAM40A_uc001dyz.1_Silent_p.L22L|FAM40A_uc009wfp.1_5'UTR	p.L117L	NM_033088	NP_149079	Q5VSL9	FA40A_HUMAN		Lung(183;0.0154)|all cancers(265;0.0732)|Epithelial(280;0.0781)|Colorectal(144;0.115)|LUSC - Lung squamous cell carcinoma(189;0.137)	4	368	+		all_cancers(81;8.51e-05)|all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	117					Q0V925|Q5VSL8|Q658K2|Q6ZV31|Q8N598|Q96SN2|Q9C0A2	Silent	SNP	ENST00000369795.3	37	c.349C>T	CCDS30798.1																																																																																				0.517	STRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032213.1		NM_033088		13	46	0	0	0	0.013537	0	13	46		
TXNIP	10628	broad.mit.edu	37	1	145438895	145438895	+	Silent	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr1:145438895G>C	ENST00000369317.4	+	1	427	c.93G>C	c.(91-93)gtG>gtC	p.V31V	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	31					cell cycle (GO:0007049)|cellular response to tumor cell (GO:0071228)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|negative regulation of cell division (GO:0051782)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|protein import into nucleus (GO:0006606)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTGGCCGGGTGATAGTGGAGG	0.517																																						uc001enn.3		NaN																	0				ovary(2)	2						c.(91-93)GTG>GTC		thioredoxin interacting protein							150.0	132.0	138.0					1																	145438895		2203	4300	6503	SO:0001819	synonymous_variant	10628				cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding	g.chr1:145438895G>C	S73591	CCDS72876.1	1q11	2008-07-18			ENSG00000117289	ENSG00000265972			16952	protein-coding gene	gene with protein product	"""upregulated by 1,25-dihydroxyvitamin D-3"", ""thioredoxin binding protein 2"""	606599				8086474	Standard	NM_006472		Approved	VDUP1, EST01027, HHCPA78, THIF	uc001enn.4	Q9H3M7	OTTHUMG00000013755	ENST00000369317.4:c.93G>C	1.37:g.145438895G>C						NBPF10_uc001emp.3_Intron|TXNIP_uc001enm.1_Intron|TXNIP_uc010oys.1_5'Flank	p.V31V	NM_006472	NP_006463	Q9H3M7	TXNIP_HUMAN			1	434	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		31					B4E3D3|Q16226|Q6PML0|Q9BXG9	Silent	SNP	ENST00000369317.4	37	c.93G>C	CCDS913.1																																																																																				0.517	TXNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038547.1		NM_006472		7	91	0	0	0	0.001984	0	7	91		
TXNIP	10628	broad.mit.edu	37	1	145439609	145439609	+	Silent	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr1:145439609G>C	ENST00000369317.4	+	2	601	c.267G>C	c.(265-267)gtG>gtC	p.V89V	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	89					cell cycle (GO:0007049)|cellular response to tumor cell (GO:0071228)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|negative regulation of cell division (GO:0051782)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|protein import into nucleus (GO:0006606)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ATGAGATGGTGATCATGAGAC	0.403																																						uc001enn.3		NaN																	0				ovary(2)	2						c.(265-267)GTG>GTC		thioredoxin interacting protein							143.0	140.0	141.0					1																	145439609		2203	4300	6503	SO:0001819	synonymous_variant	10628				cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding	g.chr1:145439609G>C	S73591	CCDS72876.1	1q11	2008-07-18			ENSG00000117289	ENSG00000265972			16952	protein-coding gene	gene with protein product	"""upregulated by 1,25-dihydroxyvitamin D-3"", ""thioredoxin binding protein 2"""	606599				8086474	Standard	NM_006472		Approved	VDUP1, EST01027, HHCPA78, THIF	uc001enn.4	Q9H3M7	OTTHUMG00000013755	ENST00000369317.4:c.267G>C	1.37:g.145439609G>C						NBPF10_uc001emp.3_Intron|TXNIP_uc001enm.1_Intron|TXNIP_uc010oys.1_Silent_p.V34V	p.V89V	NM_006472	NP_006463	Q9H3M7	TXNIP_HUMAN			2	608	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		89					B4E3D3|Q16226|Q6PML0|Q9BXG9	Silent	SNP	ENST00000369317.4	37	c.267G>C	CCDS913.1																																																																																				0.403	TXNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038547.1		NM_006472		17	131	0	0	0	0.007413	0	17	131		
TXNIP	10628	broad.mit.edu	37	1	145440274	145440274	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr1:145440274G>A	ENST00000369317.4	+	5	914	c.580G>A	c.(580-582)Gag>Aag	p.E194K	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	194					cell cycle (GO:0007049)|cellular response to tumor cell (GO:0071228)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|negative regulation of cell division (GO:0051782)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|protein import into nucleus (GO:0006606)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)|ubiquitin protein ligase binding (GO:0031625)	p.E194K(1)		breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GCTAGGTGATGAGATTTCCAT	0.478																																						uc001enn.3		NaN																	1	Substitution - Missense(1)		kidney(1)	ovary(2)	2						c.(580-582)GAG>AAG		thioredoxin interacting protein							108.0	108.0	108.0					1																	145440274		2203	4300	6503	SO:0001583	missense	10628				cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding	g.chr1:145440274G>A	S73591	CCDS72876.1	1q11	2008-07-18			ENSG00000117289	ENSG00000265972			16952	protein-coding gene	gene with protein product	"""upregulated by 1,25-dihydroxyvitamin D-3"", ""thioredoxin binding protein 2"""	606599				8086474	Standard	NM_006472		Approved	VDUP1, EST01027, HHCPA78, THIF	uc001enn.4	Q9H3M7	OTTHUMG00000013755	ENST00000369317.4:c.580G>A	1.37:g.145440274G>A	ENSP00000358323:p.Glu194Lys					NBPF10_uc001emp.3_Intron|TXNIP_uc001enm.1_Intron|TXNIP_uc010oys.1_Missense_Mutation_p.E139K	p.E194K	NM_006472	NP_006463	Q9H3M7	TXNIP_HUMAN			5	921	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		194					B4E3D3|Q16226|Q6PML0|Q9BXG9	Missense_Mutation	SNP	ENST00000369317.4	37	c.580G>A	CCDS913.1	.	.	.	.	.	.	.	.	.	.	G	16.66	3.185392	0.57909	.	.	ENSG00000117289	ENST00000369317;ENST00000425134	T;T	0.17854	2.25;2.25	5.69	5.69	0.88448	Immunoglobulin E-set (1);Arrestin-like, C-terminal (1);	0.192683	0.44285	D	0.000478	T	0.04907	0.0132	N	0.22421	0.69	0.52099	D	0.999948	B;B	0.29862	0.259;0.049	B;B	0.30943	0.122;0.025	T	0.04840	-1.0923	10	0.05525	T	0.97	-0.771	17.3154	0.87222	0.0:0.0:1.0:0.0	.	139;194	B4E3D3;Q9H3M7	.;TXNIP_HUMAN	K	194;139	ENSP00000358323:E194K;ENSP00000396322:E139K	ENSP00000358323:E194K	E	+	1	0	TXNIP	144151631	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	7.445000	0.80570	2.696000	0.92011	0.651000	0.88453	GAG		0.478	TXNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038547.1		NM_006472		21	149	0	0	0	0.012319	0	21	149		
PIAS3	10401	broad.mit.edu	37	1	145584822	145584822	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr1:145584822C>A	ENST00000393045.2	+	13	1696	c.1606C>A	c.(1606-1608)Cag>Aag	p.Q536K	PIAS3_ENST00000369298.1_Missense_Mutation_p.Q501K|NUDT17_ENST00000444015.2_5'Flank	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	536					positive regulation of gene expression (GO:0010628)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nucleus (GO:0005634)|synapse (GO:0045202)	enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|SUMO ligase activity (GO:0019789)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTCATTTCTTCAGACAGAGAG	0.423																																						uc001eoc.1		NaN																	0				ovary(1)	1						c.(1606-1608)CAG>AAG		protein inhibitor of activated STAT, 3							119.0	121.0	120.0					1																	145584822		2203	4300	6503	SO:0001583	missense	10401				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding	g.chr1:145584822C>A	AB021868	CCDS72866.1	1q21	2011-10-11			ENSG00000131788	ENSG00000131788		"""Zinc fingers, MIZ-type"""	16861	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 5"""	605987				10319586	Standard	NM_006099		Approved	FLJ14651, ZMIZ5	uc001eoc.1	Q9Y6X2	OTTHUMG00000013750	ENST00000393045.2:c.1606C>A	1.37:g.145584822C>A	ENSP00000376765:p.Gln536Lys					NBPF10_uc001emp.3_Intron|PIAS3_uc001eod.1_Missense_Mutation_p.Q205K	p.Q536K	NM_006099	NP_006090	Q9Y6X2	PIAS3_HUMAN			13	1697	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		536					Q9UFI3	Missense_Mutation	SNP	ENST00000393045.2	37	c.1606C>A	CCDS920.2	.	.	.	.	.	.	.	.	.	.	C	18.53	3.643397	0.67244	.	.	ENSG00000131788	ENST00000393045;ENST00000369298	T;T	0.35605	1.3;1.31	5.21	5.21	0.72293	.	0.000000	0.64402	D	0.000013	T	0.42404	0.1201	L	0.52573	1.65	0.80722	D	1	P	0.49447	0.924	P	0.59424	0.857	T	0.09997	-1.0649	10	0.44086	T	0.13	-15.3211	16.294	0.82762	0.0:1.0:0.0:0.0	.	536	Q9Y6X2	PIAS3_HUMAN	K	536;501	ENSP00000376765:Q536K;ENSP00000358304:Q501K	ENSP00000358304:Q501K	Q	+	1	0	PIAS3	144296179	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.381000	0.52455	2.713000	0.92767	0.655000	0.94253	CAG		0.423	PIAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038533.4		NM_006099		30	76	1	0	7.11191e-15	0.013726	7.61477e-15	30	76		
SETDB1	9869	broad.mit.edu	37	1	150923371	150923371	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr1:150923371A>G	ENST00000271640.5	+	13	2208	c.2018A>G	c.(2017-2019)tAt>tGt	p.Y673C	SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000368969.4_Missense_Mutation_p.Y673C	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	673					bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			TTTCAGCCCTATAAGCCTTTT	0.463																																						uc001evu.2		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(2017-2019)TAT>TGT		SET domain, bifurcated 1 isoform 1							120.0	115.0	117.0					1																	150923371		2203	4300	6503	SO:0001583	missense	9869				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding	g.chr1:150923371A>G	D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Tudor domain containing"""	10761	protein-coding gene	gene with protein product	"""tudor domain containing 21"""	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.2018A>G	1.37:g.150923371A>G	ENSP00000271640:p.Tyr673Cys					SETDB1_uc009wmf.2_Missense_Mutation_p.Y674C|SETDB1_uc001evv.2_Missense_Mutation_p.Y673C|SETDB1_uc009wmg.1_Missense_Mutation_p.Y673C	p.Y673C	NM_001145415	NP_001138887	Q15047	SETB1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)		13	2208	+	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		673					A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Missense_Mutation	SNP	ENST00000271640.5	37	c.2018A>G	CCDS44217.1	.	.	.	.	.	.	.	.	.	.	A	14.41	2.527045	0.44969	.	.	ENSG00000143379	ENST00000271640;ENST00000368969;ENST00000498193	D;D;D	0.89343	-2.5;-2.5;-2.5	5.66	4.51	0.55191	.	0.193248	0.48286	D	0.000187	T	0.73644	0.3613	N	0.14661	0.345	0.80722	D	1	P;P;P	0.51791	0.948;0.924;0.876	P;B;B	0.46362	0.514;0.391;0.219	T	0.75929	-0.3144	10	0.39692	T	0.17	.	11.0273	0.47753	0.8565:0.0:0.0:0.1435	.	673;673;673	E9PRF4;Q15047-3;Q15047	.;.;SETB1_HUMAN	C	673	ENSP00000271640:Y673C;ENSP00000357965:Y673C;ENSP00000432348:Y673C	ENSP00000271640:Y673C	Y	+	2	0	SETDB1	149189995	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.174000	0.58256	0.926000	0.37118	0.533000	0.62120	TAT		0.463	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084717.2				35	83	0	0	0	0.012213	0	35	83		
SEMA6C	10500	broad.mit.edu	37	1	151108092	151108092	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr1:151108092C>G	ENST00000341697.3	-	14	3099	c.1408G>C	c.(1408-1410)Gag>Cag	p.E470Q	SEMA6C_ENST00000479820.1_5'Flank			Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	470	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.E470Q(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GCATCAATCTCTTCCAGGAGG	0.602																																						uc001ewu.2		NaN																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1408-1410)GAG>CAG		semaphorin Y precursor							78.0	80.0	79.0					1																	151108092		2203	4300	6503	SO:0001583	missense	10500					integral to membrane	receptor activity	g.chr1:151108092C>G	AF339154	CCDS984.1, CCDS53363.1, CCDS53364.1	1q21.2	2008-02-05			ENSG00000143434	ENSG00000143434		"""Semaphorins"""	10740	protein-coding gene	gene with protein product	"""m-Sema Y2"""	609294				12110693	Standard	NM_030913		Approved	KIAA1869	uc001ewv.3	Q9H3T2	OTTHUMG00000012261	ENST00000341697.3:c.1408G>C	1.37:g.151108092C>G	ENSP00000344148:p.Glu470Gln					SEMA6C_uc001ewv.2_Missense_Mutation_p.E470Q|SEMA6C_uc001eww.2_Missense_Mutation_p.E430Q|SEMA6C_uc010pcq.1_Missense_Mutation_p.E470Q	p.E470Q	NM_030913	NP_112175	Q9H3T2	SEM6C_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		14	1708	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		470			Extracellular (Potential).|Sema.		D3DV15|Q5JR71|Q5JR72|Q5JR73|Q8WXT8|Q8WXT9|Q8WXU0|Q96JF8	Missense_Mutation	SNP	ENST00000341697.3	37	c.1408G>C	CCDS984.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.469718	0.84533	.	.	ENSG00000143434	ENST00000368914;ENST00000368912;ENST00000368913;ENST00000341697	T;T;T;T	0.30981	1.51;1.51;1.51;1.51	4.77	4.77	0.60923	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.113135	0.64402	D	0.000017	T	0.52338	0.1728	M	0.84683	2.71	0.40820	D	0.983499	D;D;D;D	0.89917	1.0;0.996;1.0;0.998	D;D;D;D	0.77557	0.99;0.986;0.967;0.986	T	0.62253	-0.6893	10	0.87932	D	0	.	15.2959	0.73906	0.0:1.0:0.0:0.0	.	470;430;470;470	B4DZD4;Q9H3T2-2;Q9H3T2-3;Q9H3T2	.;.;.;SEM6C_HUMAN	Q	470;430;470;470	ENSP00000357910:E470Q;ENSP00000357908:E430Q;ENSP00000357909:E470Q;ENSP00000344148:E470Q	ENSP00000344148:E470Q	E	-	1	0	SEMA6C	149374716	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.911000	0.69939	2.215000	0.71742	0.561000	0.74099	GAG		0.602	SEMA6C-004	KNOWN	alternative_5_UTR|mRNA_start_NF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034074.1		NM_030913		67	122	0	0	0	0.01441	0	67	122		
NUP210L	91181	broad.mit.edu	37	1	154112367	154112367	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr1:154112367C>G	ENST00000368559.3	-	5	699	c.628G>C	c.(628-630)Gag>Cag	p.E210Q	NUP210L_ENST00000271854.3_Missense_Mutation_p.E210Q	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	210					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TGTTTCTCCTCTTTTTCCATC	0.338																																						uc001fdw.2		NaN																	0				skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1)	11						c.(628-630)GAG>CAG		nucleoporin 210kDa-like isoform 1							301.0	294.0	296.0					1																	154112367		1834	4097	5931	SO:0001583	missense	91181					integral to membrane		g.chr1:154112367C>G	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.628G>C	1.37:g.154112367C>G	ENSP00000357547:p.Glu210Gln					NUP210L_uc010peh.1_Missense_Mutation_p.E210Q	p.E210Q	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		5	700	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		210					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	ENST00000368559.3	37	c.628G>C	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	C	10.40	1.339250	0.24339	.	.	ENSG00000143552	ENST00000368559;ENST00000271854	T;T	0.06849	3.51;3.25	4.87	2.93	0.34026	.	0.349704	0.24332	N	0.039446	T	0.02193	0.0068	L	0.47716	1.5	0.22827	N	0.998684	B;B	0.12630	0.003;0.006	B;B	0.10450	0.005;0.005	T	0.44251	-0.9340	10	0.14656	T	0.56	-16.3524	8.3535	0.32316	0.0:0.7573:0.1555:0.0872	.	210;210	E7EP56;Q5VU65	.;P210L_HUMAN	Q	210	ENSP00000357547:E210Q;ENSP00000271854:E210Q	ENSP00000271854:E210Q	E	-	1	0	NUP210L	152378991	0.016000	0.18221	0.998000	0.56505	0.942000	0.58702	1.524000	0.35942	1.258000	0.44101	0.561000	0.74099	GAG		0.338	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3		NM_207308		105	243	0	0	0	0.01441	0	105	243		
FMOD	2331	broad.mit.edu	37	1	203316731	203316731	+	Missense_Mutation	SNP	C	C	T	rs199917381		TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr1:203316731C>T	ENST00000354955.4	-	2	1131	c.668G>A	c.(667-669)cGg>cAg	p.R223Q	FMOD_ENST00000493296.1_Intron	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	223					carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor complex assembly (GO:0007181)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			GATCAGTGACCGGAGGCCCCT	0.567																																						uc001gzr.2		NaN																	0				ovary(2)|breast(1)	3						c.(667-669)CGG>CAG		fibromodulin precursor							93.0	91.0	92.0					1																	203316731		2203	4300	6503	SO:0001583	missense	2331				transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix		g.chr1:203316731C>T	U05291	CCDS30976.1	1q32	2008-02-05			ENSG00000122176	ENSG00000122176		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	3774	protein-coding gene	gene with protein product	"""fibromodulin proteoglycan"""	600245				7851907	Standard	NM_002023		Approved	SLRR2E	uc001gzr.3	Q06828	OTTHUMG00000035910	ENST00000354955.4:c.668G>A	1.37:g.203316731C>T	ENSP00000347041:p.Arg223Gln					FMOD_uc010pqi.1_RNA	p.R223Q	NM_002023	NP_002014	Q06828	FMOD_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.171)		2	804	-			223					Q15331|Q8IV47	Missense_Mutation	SNP	ENST00000354955.4	37	c.668G>A	CCDS30976.1	.	.	.	.	.	.	.	.	.	.	C	17.62	3.434301	0.62955	.	.	ENSG00000122176	ENST00000435105;ENST00000354955	T	0.59083	0.29	5.18	4.26	0.50523	.	0.058656	0.64402	D	0.000004	T	0.30603	0.0770	N	0.13198	0.31	0.33014	D	0.527988	P	0.39748	0.686	B	0.27608	0.081	T	0.49579	-0.8925	10	0.66056	D	0.02	-6.4723	5.9517	0.19250	0.0:0.7519:0.0:0.2481	.	223	Q06828	FMOD_HUMAN	Q	210;223	ENSP00000347041:R223Q	ENSP00000347041:R223Q	R	-	2	0	FMOD	201583354	0.978000	0.34361	0.999000	0.59377	0.998000	0.95712	1.812000	0.38952	2.414000	0.81942	0.655000	0.94253	CGG		0.567	FMOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087472.1		NM_002023		72	189	0	0	0	0.01441	0	72	189		
PTPN14	5784	broad.mit.edu	37	1	214567095	214567095	+	Missense_Mutation	SNP	A	A	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr1:214567095A>C	ENST00000366956.5	-	10	1066	c.872T>G	c.(871-873)aTt>aGt	p.I291S	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	291	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		CAACCGAGAAATATACTTGGC	0.343																																					Colon(92;557 1424 24372 34121 40073)	uc001hkk.1		NaN																	0				breast(2)|ovary(1)|kidney(1)|skin(1)	5						c.(871-873)ATT>AGT		protein tyrosine phosphatase, non-receptor type							88.0	92.0	91.0					1																	214567095		2203	4300	6503	SO:0001583	missense	5784				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	g.chr1:214567095A>C	X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.872T>G	1.37:g.214567095A>C	ENSP00000355923:p.Ile291Ser					PTPN14_uc010pty.1_Missense_Mutation_p.I192S	p.I291S	NM_005401	NP_005392	Q15678	PTN14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)	10	1143	-			291			FERM.		Q5VSI0	Missense_Mutation	SNP	ENST00000366956.5	37	c.872T>G	CCDS1514.1	.	.	.	.	.	.	.	.	.	.	A	18.43	3.621981	0.66787	.	.	ENSG00000152104	ENST00000366956	D	0.84516	-1.86	5.78	5.78	0.91487	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.056338	0.64402	D	0.000002	D	0.85292	0.5663	L	0.58101	1.795	0.80722	D	1	B	0.27910	0.193	B	0.34536	0.185	D	0.84349	0.0531	10	0.87932	D	0	.	16.1138	0.81283	1.0:0.0:0.0:0.0	.	291	Q15678	PTN14_HUMAN	S	291	ENSP00000355923:I291S	ENSP00000355923:I291S	I	-	2	0	PTPN14	212633718	1.000000	0.71417	0.050000	0.19076	0.599000	0.36880	8.889000	0.92470	2.220000	0.72140	0.533000	0.62120	ATT		0.343	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2		NM_005401		20	67	0	0	0	0.021523	0	20	67		
JMJD4	65094	broad.mit.edu	37	1	227921241	227921241	+	Silent	SNP	G	G	A	rs117793265	byFrequency	TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr1:227921241G>A	ENST00000366758.3	-	4	833	c.834C>T	c.(832-834)tcC>tcT	p.S278S	SNAP47_ENST00000366760.1_Intron|SNAP47_ENST00000480897.1_3'UTR|JMJD4_ENST00000438896.2_Silent_p.S278S|JMJD4_ENST00000485807.1_5'UTR|SNAP47_ENST00000366759.4_5'Flank|SNAP47_ENST00000315781.5_5'Flank	NM_023007.2	NP_075383.2	Q9H9V9	JMJD4_HUMAN	jumonji domain containing 4	278	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.									endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	9		Prostate(94;0.0885)				AGAGTGCTGGGGAGGTCACGT	0.642													G|||	45	0.00898562	0.0	0.0	5008	,	,		20106	0.0099		0.0	False		,,,				2504	0.0358					uc001hrb.2		NaN																	0					0						c.(832-834)TCC>TCT		jumonji domain containing 4 isoform 1							75.0	63.0	67.0					1																	227921241		2203	4300	6503	SO:0001819	synonymous_variant	65094							g.chr1:227921241G>A	AK022579	CCDS1561.1, CCDS59203.1	1q42.13	2008-02-05			ENSG00000081692	ENSG00000081692			25724	protein-coding gene	gene with protein product						12477932	Standard	NM_023007		Approved	FLJ12517	uc001hrb.3	Q9H9V9	OTTHUMG00000037698	ENST00000366758.3:c.834C>T	1.37:g.227921241G>A						SNAP47_uc001hqz.2_Intron|SNAP47_uc001hra.2_Intron|SNAP47_uc001hrd.2_5'Flank|SNAP47_uc001hre.2_5'Flank|SNAP47_uc001hrf.2_5'Flank|LOC100130093_uc001hqx.3_RNA|LOC100130093_uc001hqy.3_RNA|JMJD4_uc001hrc.2_Silent_p.S278S	p.S278S	NM_023007	NP_075383	Q9H9V9	JMJD4_HUMAN			4	834	-		Prostate(94;0.0885)	278			JmjC.		Q5TBZ1|Q5TBZ6|Q9H970	Silent	SNP	ENST00000366758.3	37	c.834C>T	CCDS1561.1	5	0.0022893772893772895	0	0.0	0	0.0	5	0.008741258741258742	0	0.0	.	0.573	-0.840398	0.02692	.	.	ENSG00000081692	ENST00000438896	.	.	.	4.5	0.431	0.16523	.	.	.	.	.	T	0.34600	0.0903	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	T	0.16070	-1.0415	4	.	.	.	-27.4749	2.6294	0.04939	0.1728:0.1447:0.5336:0.149	.	.	.	.	L	271	.	.	P	-	2	0	JMJD4	225987864	0.000000	0.05858	0.415000	0.26534	0.012000	0.07955	-2.866000	0.00723	-0.004000	0.14419	0.655000	0.94253	CCC		0.642	JMJD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091970.1		NM_023007		21	61	0	0	0	0.012319	0	21	61		
OBSCN	84033	broad.mit.edu	37	1	228473945	228473945	+	Silent	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr1:228473945C>T	ENST00000422127.1	+	34	9215	c.9171C>T	c.(9169-9171)ccC>ccT	p.P3057P	OBSCN_ENST00000359599.6_Silent_p.P1904P|OBSCN_ENST00000570156.2_Silent_p.P3486P|OBSCN_ENST00000366709.4_Silent_p.P176P|OBSCN_ENST00000284548.11_Silent_p.P3057P|OBSCN_ENST00000366707.4_Silent_p.P176P	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3057	Ig-like 30.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				ATGCCCAGCCCGGGGGCTACC	0.667																																						uc009xez.1		NaN																	0				stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28						c.(9169-9171)CCC>CCT		obscurin, cytoskeletal calmodulin and							30.0	37.0	35.0					1																	228473945		2084	4218	6302	SO:0001819	synonymous_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228473945C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.9171C>T	1.37:g.228473945C>T						OBSCN_uc001hsn.2_Silent_p.P3057P|OBSCN_uc001hsq.1_Silent_p.P313P	p.P3057P	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			34	9215	+		Prostate(94;0.0405)	3057			Ig-like 30.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.9171C>T	CCDS58065.1																																																																																				0.667	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding			NM_052843		6	26	0	0	0	0.021553	0	6	26		
GPR158	57512	broad.mit.edu	37	10	25885648	25885648	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr10:25885648C>G	ENST00000376351.3	+	10	2434	c.2075C>G	c.(2074-2076)tCt>tGt	p.S692C	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	692					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						ATGGGCCGATCTGGATCCTAC	0.443																																						uc001isj.2		NaN																	0				ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						c.(2074-2076)TCT>TGT		G protein-coupled receptor 158 precursor							146.0	116.0	126.0					10																	25885648		2203	4300	6503	SO:0001583	missense	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25885648C>G	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.2075C>G	10.37:g.25885648C>G	ENSP00000365529:p.Ser692Cys					GPR158_uc001isk.2_Missense_Mutation_p.S67C	p.S692C	NM_020752	NP_065803	Q5T848	GP158_HUMAN			10	2135	+			692			Cytoplasmic (Potential).		Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	c.2075C>G	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	C	33	5.215857	0.95104	.	.	ENSG00000151025	ENST00000376351	T	0.64803	-0.12	6.16	6.16	0.99307	.	0.000000	0.64402	D	0.000001	T	0.80529	0.4640	M	0.72353	2.195	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.80056	-0.1542	10	0.87932	D	0	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	692	Q5T848	GP158_HUMAN	C	692	ENSP00000365529:S692C	ENSP00000365529:S692C	S	+	2	0	GPR158	25925654	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.937000	0.99478	0.650000	0.86243	TCT		0.443	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2		XM_166110		14	42	0	0	0	0.020292	0	14	42		
MKX	283078	broad.mit.edu	37	10	28032225	28032225	+	Silent	SNP	G	G	A	rs534056794	byFrequency	TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr10:28032225G>A	ENST00000375790.5	-	2	552	c.120C>T	c.(118-120)cgC>cgT	p.R40R	MKX_ENST00000419761.1_Silent_p.R40R|RP11-360I20.2_ENST00000419777.1_RNA			Q8IYA7	MKX_HUMAN	mohawk homeobox	40			R -> H (in dbSNP:rs34439626).		collagen fibril organization (GO:0030199)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|positive regulation of collagen biosynthetic process (GO:0032967)|tendon cell differentiation (GO:0035990)|tendon sheath development (GO:0002932)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						CCACCTCGGGGCGGGCGTGAG	0.726													G|||	3	0.000599042	0.0	0.0043	5008	,	,		12081	0.0		0.0	False		,,,				2504	0.0					uc001ity.3		NaN																	0				ovary(1)	1						c.(118-120)CGC>CGT		mohawk homeobox							22.0	26.0	24.0					10																	28032225		2199	4294	6493	SO:0001819	synonymous_variant	283078				muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:28032225G>A	BC036207	CCDS7156.1	10p12.1	2011-06-20	2006-03-31	2006-03-31	ENSG00000150051	ENSG00000150051		"""Homeoboxes / TALE class"""	23729	protein-coding gene	gene with protein product		601332	"""chromosome 10 open reading frame 48"", ""iroquois homeobox protein-like 1"""	C10orf48, IRXL1		16408284	Standard	NM_173576		Approved	MGC39616	uc001itx.4	Q8IYA7	OTTHUMG00000017862	ENST00000375790.5:c.120C>T	10.37:g.28032225G>A						MKX_uc001itx.3_Silent_p.R40R	p.R40R	NM_173576	NP_775847	Q8IYA7	MKX_HUMAN			2	345	-			40					B3KWM5	Silent	SNP	ENST00000375790.5	37	c.120C>T	CCDS7156.1																																																																																				0.726	MKX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047332.3		NM_173576		10	33	0	0	0	0.008291	0	10	33		
HKDC1	80201	broad.mit.edu	37	10	71002944	71002944	+	Missense_Mutation	SNP	G	G	A	rs200508795		TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr10:71002944G>A	ENST00000354624.5	+	7	831	c.698G>A	c.(697-699)gGc>gAc	p.G233D	HKDC1_ENST00000395086.2_Missense_Mutation_p.G233D	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	233	Hexokinase type-2 1.				carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)	cytosol (GO:0005829)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|mannokinase activity (GO:0019158)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						TCAGGAACTGGCACCAATGCG	0.562																																						uc001jpf.3		NaN																	0				ovary(4)|skin(1)	5						c.(697-699)GGC>GAC		hexokinase domain containing 1							113.0	103.0	106.0					10																	71002944		2203	4300	6503	SO:0001583	missense	80201				glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity	g.chr10:71002944G>A		CCDS7288.1	10q22.1	2006-10-24			ENSG00000156510	ENSG00000156510			23302	protein-coding gene	gene with protein product						12477932	Standard	NM_025130		Approved	FLJ37767, FLJ22761	uc001jpf.4	Q2TB90	OTTHUMG00000018371	ENST00000354624.5:c.698G>A	10.37:g.71002944G>A	ENSP00000346643:p.Gly233Asp					HKDC1_uc010qje.1_Missense_Mutation_p.G96D	p.G233D	NM_025130	NP_079406	Q2TB90	HKDC1_HUMAN			7	831	+			233					B5MDN9|Q2TB91|Q5VTC7|Q7Z373|Q8WU37|Q96EH2|Q9H5Y9	Missense_Mutation	SNP	ENST00000354624.5	37	c.698G>A	CCDS7288.1	.	.	.	.	.	.	.	.	.	.	G	19.40	3.819919	0.71028	.	.	ENSG00000156510	ENST00000354624;ENST00000395087;ENST00000395086	T;T	0.61627	0.09;0.09	5.44	5.44	0.79542	Hexokinase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.84023	0.5381	H	0.98629	4.285	0.80722	D	1	D	0.59767	0.986	P	0.57776	0.827	D	0.89950	0.4079	10	0.72032	D	0.01	-25.0094	19.441	0.94821	0.0:0.0:1.0:0.0	.	233	Q2TB90	HKDC1_HUMAN	D	233	ENSP00000346643:G233D;ENSP00000378521:G233D	ENSP00000346643:G233D	G	+	2	0	HKDC1	70672950	1.000000	0.71417	1.000000	0.80357	0.211000	0.24417	9.623000	0.98386	2.831000	0.97527	0.655000	0.94253	GGC		0.562	HKDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048389.1		NM_025130		21	114	0	0	0	0.014323	0	21	114		
PRF1	5551	broad.mit.edu	37	10	72358594	72358594	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr10:72358594T>C	ENST00000441259.1	-	3	1043	c.883A>G	c.(883-885)Acc>Gcc	p.T295A	PRF1_ENST00000373209.2_Missense_Mutation_p.T295A	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	295	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)|cytolysis (GO:0019835)|defense response to tumor cell (GO:0002357)|defense response to virus (GO:0051607)|immune response to tumor cell (GO:0002418)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)	cytolytic granule (GO:0044194)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|wide pore channel activity (GO:0022829)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						TCCCGGTAGGTTTGGTGGAAG	0.607			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis																													uc009xqg.2		NaN	yes	Rec			10	10q22	5551	M	perforin 1 (pore forming protein)		Type 2 familial hemophagocytic lymphohistiocytosis	L		various leukaemia|lymphoma			0				large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(883-885)ACC>GCC		perforin 1 precursor							215.0	140.0	166.0					10																	72358594		2203	4300	6503	SO:0001583	missense	5551	Familial_Hemophagocytic_Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity	g.chr10:72358594T>C	BC047695	CCDS7305.1	10q22	2014-09-17			ENSG00000180644	ENSG00000180644			9360	protein-coding gene	gene with protein product	"""Perforin"", ""perforin 1 (preforming protein)"""	170280				1505959, 2592021	Standard	NM_005041		Approved	PFP, P1, HPLH2	uc001jrf.4	P14222	OTTHUMG00000018412	ENST00000441259.1:c.883A>G	10.37:g.72358594T>C	ENSP00000398568:p.Thr295Ala					PRF1_uc001jrf.3_Missense_Mutation_p.T295A	p.T295A	NM_001083116	NP_001076585	P14222	PERF_HUMAN			3	1044	-			295			MACPF.		B2R6X4|Q59F57|Q86WX7	Missense_Mutation	SNP	ENST00000441259.1	37	c.883A>G	CCDS7305.1	.	.	.	.	.	.	.	.	.	.	T	1.119	-0.655859	0.03480	.	.	ENSG00000180644	ENST00000373209;ENST00000441259;ENST00000318971	D;D	0.83755	-1.76;-1.76	5.83	-11.7	0.00046	Membrane attack complex component/perforin (MACPF) domain (3);	1.063920	0.07149	N	0.848711	T	0.57446	0.2054	N	0.10916	0.065	0.09310	N	0.999991	B	0.02656	0.0	B	0.04013	0.001	T	0.42258	-0.9462	10	0.08599	T	0.76	-5.2482	9.8324	0.40950	0.2387:0.0823:0.0:0.679	.	295	P14222	PERF_HUMAN	A	295	ENSP00000362305:T295A;ENSP00000398568:T295A	ENSP00000316746:T295A	T	-	1	0	PRF1	72028600	0.000000	0.05858	0.028000	0.17463	0.012000	0.07955	-3.707000	0.00387	-2.787000	0.00358	-1.981000	0.00455	ACC		0.607	PRF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048517.2		NM_005041		27	73	0	0	0	0.021523	0	27	73		
TACC2	10579	broad.mit.edu	37	10	123846852	123846852	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr10:123846852G>T	ENST00000369005.1	+	4	5177	c.4837G>T	c.(4837-4839)Gat>Tat	p.D1613Y	TACC2_ENST00000358010.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.D1613Y|TACC2_ENST00000515273.1_Missense_Mutation_p.D1613Y|TACC2_ENST00000334433.3_Missense_Mutation_p.D1613Y|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.D1613Y	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1613					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)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				ACATGGAGAAGATGGTCCCGG	0.582																																						uc001lfv.2		NaN																	0				ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10						c.(4837-4839)GAT>TAT		transforming, acidic coiled-coil containing							85.0	84.0	84.0					10																	123846852		2203	4300	6503	SO:0001583	missense	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123846852G>T	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.4837G>T	10.37:g.123846852G>T	ENSP00000358001:p.Asp1613Tyr					TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Missense_Mutation_p.D1613Y|TACC2_uc010qtv.1_Missense_Mutation_p.D1613Y	p.D1613Y	NM_206862	NP_996744	O95359	TACC2_HUMAN			4	5197	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	1613					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	c.4837G>T	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.746170	0.30955	.	.	ENSG00000138162	ENST00000369005;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000453444;ENST00000340076	T;T;T;T;T	0.03801	3.89;3.8;3.86;3.89;3.8	5.55	4.64	0.57946	.	0.700839	0.11759	N	0.532232	T	0.05914	0.0154	L	0.29908	0.895	0.18873	N	0.999981	D;D;D	0.56287	0.975;0.975;0.975	P;P;P	0.44990	0.466;0.466;0.466	T	0.37337	-0.9710	10	0.87932	D	0	-2.545	8.997	0.36059	0.1713:0.0:0.8287:0.0	.	1613;1613;1613	E9PBC6;E7EMZ9;O95359	.;.;TACC2_HUMAN	Y	1613;1613;1613;1613;1613;1603	ENSP00000358001:D1613Y;ENSP00000424467:D1613Y;ENSP00000427618:D1613Y;ENSP00000334280:D1613Y;ENSP00000395048:D1613Y	ENSP00000334280:D1613Y	D	+	1	0	TACC2	123836842	0.001000	0.12720	0.002000	0.10522	0.006000	0.05464	1.015000	0.29963	1.291000	0.44653	0.643000	0.83706	GAT		0.582	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1				22	69	1	0	4.35082e-09	0.010504	4.52144e-09	22	69		
MRPL23	6150	broad.mit.edu	37	11	1977518	1977518	+	Silent	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr11:1977518G>A	ENST00000397298.3	+	5	415	c.330G>A	c.(328-330)ctG>ctA	p.L110L	MRPL23_ENST00000381514.3_Intron|MRPL23_ENST00000397294.3_Intron|MRPL23_ENST00000381519.1_Silent_p.L110L|MRPL23_ENST00000397297.3_Intron	NM_021134.3	NP_066957.3	Q16540	RM23_HUMAN	mitochondrial ribosomal protein L23	110					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			large_intestine(2)|lung(1)|ovary(1)	4		all_epithelial(84;6.24e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.0026)|Lung(200;0.0171)|LUSC - Lung squamous cell carcinoma(625;0.0842)		TCCCAGATCTGTTTCCCGAGA	0.622																																						uc001lux.2		NaN																	0				large_intestine(2)|ovary(1)	3						c.(328-330)CTG>CTA		mitochondrial ribosomal protein L23							111.0	110.0	111.0					11																	1977518		2202	4299	6501	SO:0001819	synonymous_variant	6150				translation	mitochondrial large ribosomal subunit	nucleotide binding|RNA binding|structural constituent of ribosome	g.chr11:1977518G>A	AB051340	CCDS31336.1	11p15.5	2012-09-13			ENSG00000214026	ENSG00000214026		"""Mitochondrial ribosomal proteins / large subunits"""	10322	protein-coding gene	gene with protein product		600789		RPL23L		8541832	Standard	NM_021134		Approved	L23MRP	uc001lux.3	Q16540	OTTHUMG00000012476	ENST00000397298.3:c.330G>A	11.37:g.1977518G>A							p.L110L	NM_021134	NP_066957	Q16540	RM23_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0026)|Lung(200;0.0171)|LUSC - Lung squamous cell carcinoma(625;0.0842)	5	421	+		all_epithelial(84;6.24e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	110					A8MT29|Q96Q71	Silent	SNP	ENST00000397298.3	37	c.330G>A	CCDS31336.1																																																																																				0.622	MRPL23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034765.2		NM_021134		24	167	0	0	0	0.01892	0	24	167		
TRIM5	85363	broad.mit.edu	37	11	5686559	5686559	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr11:5686559C>T	ENST00000380034.3	-	8	1218	c.962G>A	c.(961-963)aGc>aAc	p.S321N	TRIM5_ENST00000380027.1_Intron|TRIM5_ENST00000305836.5_Missense_Mutation_p.S321N|TRIM5_ENST00000396853.4_Intron|TRIM5_ENST00000396855.3_Intron|TRIM5_ENST00000396847.3_3'UTR|TRIM5_ENST00000483835.1_5'UTR	NM_033034.2|NM_033092.2	NP_149023.2|NP_149083.2	Q9C035	TRIM5_HUMAN	tripartite motif containing 5	321	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				activation of innate immune response (GO:0002218)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|signaling pattern recognition receptor activity (GO:0008329)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		TTTCGGAGAGCTCACTTGTCT	0.408																																						uc001mbm.1		NaN																	0				ovary(1)	1						c.(961-963)AGC>AAC		tripartite motif protein TRIM5 isoform alpha							70.0	69.0	69.0					11																	5686559		2201	4297	6498	SO:0001583	missense	85363				interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding	g.chr11:5686559C>T	AF220025	CCDS31392.1, CCDS31393.1, CCDS31394.1	11p15	2014-06-03	2011-01-25		ENSG00000132256	ENSG00000132256		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16276	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM5"", ""tripartite motif protein TRIM"""	608487	"""tripartite motif-containing 5"""			11331580	Standard	NM_033034		Approved	RNF88, TRIM5alpha	uc001mbm.2	Q9C035	OTTHUMG00000066893	ENST00000380034.3:c.962G>A	11.37:g.5686559C>T	ENSP00000369373:p.Ser321Asn					TRIM78P_uc009yer.2_RNA|TRIM5_uc001mbl.1_RNA|TRIM5_uc001mbn.2_Intron|TRIM5_uc001mbo.2_Intron|TRIM5_uc001mbp.2_3'UTR	p.S321N	NM_033034	NP_149023	Q9C035	TRIM5_HUMAN		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)	8	1219	-		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)	321			B30.2/SPRY.		A6NGQ1|A8WFA8|D3DQS8|D3DQS9|G3GJY1|Q2MLV4|Q2MLV8|Q2MLV9|Q2MLW1|Q2MLW3|Q2MLW4|Q2MLW6|Q2MLW7|Q2MLX1|Q2MLX2|Q2MLX3|Q2MLX5|Q2MLY3|Q2MLY4|Q2V6Q6|Q6GX26|Q8WU46|Q96SR5|Q9C031|Q9C032|Q9C033|Q9C034	Missense_Mutation	SNP	ENST00000380034.3	37	c.962G>A	CCDS31393.1	.	.	.	.	.	.	.	.	.	.	C	7.646	0.681971	0.14907	.	.	ENSG00000132256	ENST00000305836;ENST00000380034	T;T	0.61510	0.1;0.1	2.61	0.598	0.17512	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	1.917240	0.02656	N	0.107038	T	0.49643	0.1569	L	0.36672	1.1	0.09310	N	1	B	0.29378	0.243	B	0.30716	0.119	T	0.40813	-0.9543	10	0.49607	T	0.09	.	7.1073	0.25370	0.4848:0.5152:0.0:0.0	.	321	Q9C035	TRIM5_HUMAN	N	321	ENSP00000307031:S321N;ENSP00000369373:S321N	ENSP00000307031:S321N	S	-	2	0	TRIM5	5643135	0.000000	0.05858	0.003000	0.11579	0.025000	0.11179	-0.573000	0.05874	0.175000	0.19841	-0.169000	0.13324	AGC		0.408	TRIM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143360.3		NM_033034		13	69	0	0	0	0.020292	0	13	69		
STK33	65975	broad.mit.edu	37	11	8483449	8483449	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr11:8483449C>A	ENST00000447869.1	-	4	1379	c.461G>T	c.(460-462)aGc>aTc	p.S154I	STK33_ENST00000315204.1_Missense_Mutation_p.S154I|STK33_ENST00000534493.1_Missense_Mutation_p.S113I|STK33_ENST00000358872.3_5'UTR|STK33_ENST00000396673.1_Missense_Mutation_p.S154I|STK33_ENST00000396672.1_Missense_Mutation_p.S154I			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	154	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		CACAGCAGAGCTTCCAGCCTT	0.338																																						uc001mgi.1		NaN																	0				ovary(2)|lung(2)|pancreas(1)|central_nervous_system(1)|skin(1)	7						c.(460-462)AGC>ATC		serine/threonine kinase 33							131.0	119.0	123.0					11																	8483449		2201	4296	6497	SO:0001583	missense	65975					Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr11:8483449C>A	AJ303380	CCDS7789.1, CCDS73253.1, CCDS73254.1	11p15.3	2010-03-10			ENSG00000130413	ENSG00000130413			14568	protein-coding gene	gene with protein product		607670				11738831	Standard	NM_030906		Approved		uc001mgj.1	Q9BYT3	OTTHUMG00000140275	ENST00000447869.1:c.461G>T	11.37:g.8483449C>A	ENSP00000416750:p.Ser154Ile					STK33_uc001mgj.1_Missense_Mutation_p.S154I|STK33_uc001mgk.1_Missense_Mutation_p.S154I|STK33_uc010rbn.1_Missense_Mutation_p.S113I|STK33_uc001mgl.3_5'UTR|STK33_uc009yfp.2_Intron	p.S154I	NM_030906	NP_112168	Q9BYT3	STK33_HUMAN		Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)	4	1380	-			154			Protein kinase.		Q658S6|Q8NEF5	Missense_Mutation	SNP	ENST00000447869.1	37	c.461G>T	CCDS7789.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.112175	0.77210	.	.	ENSG00000130413	ENST00000447869;ENST00000315204;ENST00000396672;ENST00000396673;ENST00000534493;ENST00000524760;ENST00000418597;ENST00000422559;ENST00000457885	T;T;T;T;T;T;T;T;T	0.72167	-0.29;-0.29;-0.29;-0.29;-0.29;-0.63;-0.29;-0.29;-0.29	6.17	6.17	0.99709	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.075994	0.85682	D	0.000000	T	0.77061	0.4075	L	0.35593	1.075	0.45118	D	0.998139	D	0.59767	0.986	D	0.63597	0.916	T	0.77273	-0.2649	10	0.62326	D	0.03	.	17.7962	0.88572	0.0:1.0:0.0:0.0	.	154	Q9BYT3	STK33_HUMAN	I	154;154;154;154;113;66;113;113;154	ENSP00000416750:S154I;ENSP00000320754:S154I;ENSP00000379905:S154I;ENSP00000379906:S154I;ENSP00000436418:S113I;ENSP00000436905:S66I;ENSP00000391362:S113I;ENSP00000411510:S113I;ENSP00000403599:S154I	ENSP00000320754:S154I	S	-	2	0	STK33	8440025	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.510000	0.60455	2.941000	0.99782	0.655000	0.94253	AGC		0.338	STK33-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276819.2		NM_030906		11	39	1	0	4.84862e-15	0.010729	5.2178e-15	11	39		
AMPD3	272	broad.mit.edu	37	11	10514903	10514903	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr11:10514903C>T	ENST00000396554.3	+	7	1315	c.974C>T	c.(973-975)aCa>aTa	p.T325I	AMPD3_ENST00000444303.2_Missense_Mutation_p.T157I	NM_000480.2	NP_000471.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	316					ADP metabolic process (GO:0046031)|AMP catabolic process (GO:0006196)|ATP metabolic process (GO:0046034)|energy homeostasis (GO:0097009)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		CAGGTGGACACACACATCCAT	0.577																																						uc001mio.1		NaN																	0				large_intestine(1)|ovary(1)	2						c.(946-948)ACA>ATA		adenosine monophosphate deaminase 3 isoform 1B							109.0	111.0	110.0					11																	10514903		2201	4294	6495	SO:0001583	missense	272				AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr11:10514903C>T	M84722	CCDS7802.1, CCDS41617.1, CCDS44537.1, CCDS53601.1	11p15	2010-02-10	2010-02-10			ENSG00000133805	3.5.4.6		470	protein-coding gene	gene with protein product	"""erythrocyte-specific AMP deaminase"""	102772	"""adenosine monophosphate deaminase (isoform E)"""			1400401	Standard	NM_001172430		Approved		uc001min.1	Q01432		ENST00000396554.3:c.974C>T	11.37:g.10514903C>T	ENSP00000379802:p.Thr325Ile					AMPD3_uc010rbz.1_Missense_Mutation_p.T157I|AMPD3_uc001min.1_Missense_Mutation_p.T325I|AMPD3_uc009yfw.1_RNA|AMPD3_uc009yfz.2_RNA|AMPD3_uc001mip.1_Missense_Mutation_p.T323I|AMPD3_uc009yfy.2_Missense_Mutation_p.T316I	p.T316I	NM_001025389	NP_001020560	Q01432	AMPD3_HUMAN		all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)	7	1282	+			316					A0AUX0|B7Z2S2|B7Z763|B7Z877	Missense_Mutation	SNP	ENST00000396554.3	37	c.947C>T	CCDS7802.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.962807	0.92791	.	.	ENSG00000133805	ENST00000444303;ENST00000396554;ENST00000396553;ENST00000528723;ENST00000529507	D;D;D;D;D	0.96232	-3.95;-3.95;-3.95;-3.95;-3.95	5.18	5.18	0.71444	Adenosine/AMP deaminase (1);	0.000000	0.85682	D	0.000000	D	0.98554	0.9517	M	0.92555	3.32	0.80722	D	1	D;D;D	0.76494	0.984;0.999;0.992	P;D;D	0.71656	0.844;0.974;0.91	D	0.99705	1.1005	10	0.87932	D	0	-14.9262	18.6774	0.91534	0.0:1.0:0.0:0.0	.	323;316;325	B7Z763;Q01432;A0AUX0	.;AMPD3_HUMAN;.	I	157;325;316;323;316	ENSP00000396000:T157I;ENSP00000379802:T325I;ENSP00000379801:T316I;ENSP00000436987:T323I;ENSP00000431648:T316I	ENSP00000379801:T316I	T	+	2	0	AMPD3	10471479	1.000000	0.71417	0.970000	0.41538	0.886000	0.51366	7.818000	0.86416	2.399000	0.81585	0.561000	0.74099	ACA		0.577	AMPD3-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000385783.2		NM_000480		44	160	0	0	0	0.009718	0	44	160		
PAMR1	25891	broad.mit.edu	37	11	35454248	35454248	+	Missense_Mutation	SNP	C	C	T	rs148541461		TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr11:35454248C>T	ENST00000378880.2	-	11	2264	c.1819G>A	c.(1819-1821)Gtg>Atg	p.V607M	PAMR1_ENST00000378878.3_Missense_Mutation_p.V496M|PAMR1_ENST00000278360.3_Missense_Mutation_p.V624M|PAMR1_ENST00000532848.1_Missense_Mutation_p.V567M	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	607	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						GGGCTCCTCACGTCTGCCAGG	0.617																																						uc001mwg.2		NaN																	0				ovary(2)	2						c.(1819-1821)GTG>ATG		regeneration associated muscle protease isoform		C	MET/VAL,MET/VAL	2,4402	4.2+/-10.8	0,2,2200	78.0	64.0	69.0		1819,1870	2.6	0.0	11	dbSNP_134	69	0,8596		0,0,4298	no	missense,missense	PAMR1	NM_001001991.1,NM_015430.2	21,21	0,2,6498	TT,TC,CC		0.0,0.0454,0.0154	benign,benign	607/721,624/738	35454248	2,12998	2202	4298	6500	SO:0001583	missense	25891				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr11:35454248C>T		CCDS7898.1, CCDS31460.1, CCDS60759.1, CCDS60760.1	11p13	2009-09-30			ENSG00000149090	ENSG00000149090			24554	protein-coding gene	gene with protein product	"""regeneration-associated muscle protease"""					15111323	Standard	NM_001282675		Approved	RAMP, DKFZP586H2123	uc001mwf.3	Q6UXH9	OTTHUMG00000166328	ENST00000378880.2:c.1819G>A	11.37:g.35454248C>T	ENSP00000368158:p.Val607Met					PAMR1_uc001mwf.2_Missense_Mutation_p.V624M|PAMR1_uc010rew.1_Missense_Mutation_p.V496M|PAMR1_uc010rex.1_Missense_Mutation_p.V567M	p.V607M	NM_001001991	NP_001001991	Q6UXH9	PAMR1_HUMAN			11	1862	-			607			Peptidase S1.		A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Missense_Mutation	SNP	ENST00000378880.2	37	c.1819G>A	CCDS31460.1	.	.	.	.	.	.	.	.	.	.	C	5.034	0.191995	0.09547	4.54E-4	0.0	ENSG00000149090	ENST00000278360;ENST00000378880;ENST00000378878;ENST00000532848;ENST00000527605	D;D;D;D;D	0.92858	-3.12;-3.12;-3.12;-3.12;-3.12	5.47	2.56	0.30785	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.715928	0.14427	N	0.320259	D	0.84696	0.5529	L	0.46741	1.465	0.09310	N	1	B;B;B	0.30851	0.297;0.016;0.029	B;B;B	0.14023	0.01;0.01;0.009	T	0.76443	-0.2957	10	0.87932	D	0	.	1.4545	0.02382	0.1453:0.4426:0.1414:0.2706	.	496;607;624	A8MQ58;Q6UXH9;Q6UXH9-2	.;PAMR1_HUMAN;.	M	624;607;496;567;584	ENSP00000278360:V624M;ENSP00000368158:V607M;ENSP00000368156:V496M;ENSP00000433868:V567M;ENSP00000432591:V584M	ENSP00000278360:V624M	V	-	1	0	PAMR1	35410824	0.003000	0.15002	0.022000	0.16811	0.441000	0.31987	0.508000	0.22692	0.274000	0.22072	-0.254000	0.11334	GTG		0.617	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389177.1		NM_015430		10	56	0	0	0	0.008291	0	10	56		
TRIM51	84767	broad.mit.edu	37	11	55653304	55653304	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr11:55653304G>T	ENST00000449290.2	+	2	492	c.400G>T	c.(400-402)Gag>Tag	p.E134*	TRIM51_ENST00000244891.3_5'Flank	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	134						intracellular (GO:0005622)	zinc ion binding (GO:0008270)										GTGGGCTGCTGAGGAACGCCG	0.478																																						uc010rip.1		NaN																	0					0						c.(400-402)GAG>TAG		SPRY domain containing 5							12.0	11.0	11.0					11																	55653304		692	1590	2282	SO:0001587	stop_gained	84767					intracellular	zinc ion binding	g.chr11:55653304G>T	BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19023	protein-coding gene	gene with protein product			"""SPRY domain containing 5"""	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.400G>T	11.37:g.55653304G>T	ENSP00000395086:p.Glu134*					SPRYD5_uc010riq.1_5'Flank	p.E134*	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN			2	492	+		all_epithelial(135;0.226)	134					A6NMG2	Nonsense_Mutation	SNP	ENST00000449290.2	37	c.400G>T		.	.	.	.	.	.	.	.	.	.	.	13.73	2.324608	0.41197	.	.	ENSG00000124900	ENST00000449290	.	.	.	0.803	-0.479	0.12089	.	.	.	.	.	.	.	.	.	.	.	0.53005	D	0.99996	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	3.8204	0.08833	0.5695:0.0:0.4305:0.0	.	.	.	.	X	134	.	ENSP00000395086:E134X	E	+	1	0	SPRYD5	55409880	0.005000	0.15991	0.062000	0.19696	0.188000	0.23474	-0.081000	0.11321	-0.107000	0.12088	0.152000	0.16155	GAG		0.478	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1		NM_032681		7	36	1	0	2.0095e-06	0.001984	2.06803e-06	7	36		
C11orf80	79703	broad.mit.edu	37	11	66605889	66605889	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr11:66605889G>A	ENST00000360962.4	+	15	1727	c.1720G>A	c.(1720-1722)Gat>Aat	p.D574N	C11orf80_ENST00000346672.4_Missense_Mutation_p.D383N|C11orf80_ENST00000525449.2_Missense_Mutation_p.D382N|C11orf80_ENST00000532565.2_Missense_Mutation_p.D356N|C11orf80_ENST00000527634.1_Missense_Mutation_p.D357N|C11orf80_ENST00000540737.1_Missense_Mutation_p.D408N	NM_024650.3	NP_078926.3	Q8N6T0	CK080_HUMAN	chromosome 11 open reading frame 80	574										autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14						GGACGCACCTGATAACAGCAG	0.443																																						uc001ojf.2		NaN																	0					0						c.(1720-1722)GAT>AAT		hypothetical protein LOC79703							78.0	78.0	78.0					11																	66605889		1875	4108	5983	SO:0001583	missense	79703							g.chr11:66605889G>A			11q13.2	2012-05-30			ENSG00000173715	ENSG00000173715			26197	protein-coding gene	gene with protein product						18160775	Standard	NM_024650		Approved	FLJ22531	uc021qmd.1	Q8N6T0	OTTHUMG00000167164	ENST00000360962.4:c.1720G>A	11.37:g.66605889G>A	ENSP00000354227:p.Asp574Asn					C11orf80_uc001ojg.2_Missense_Mutation_p.D341N|C11orf80_uc001ojh.2_Missense_Mutation_p.D342N|C11orf80_uc001oji.2_Missense_Mutation_p.D342N|C11orf80_uc010rpl.1_Missense_Mutation_p.D208N|C11orf80_uc001ojj.2_Missense_Mutation_p.D172N	p.D574N	NM_024650	NP_078926	Q8N6T0	CK080_HUMAN			15	1727	+			419					Q9H677	Missense_Mutation	SNP	ENST00000360962.4	37	c.1720G>A	CCDS53664.1	.	.	.	.	.	.	.	.	.	.	G	14.79	2.640260	0.47153	.	.	ENSG00000173715	ENST00000360962;ENST00000346672;ENST00000527634;ENST00000528340;ENST00000540737;ENST00000525449	T	0.31510	1.49	3.84	0.925	0.19424	.	1.528260	0.04292	N	0.345737	T	0.21103	0.0508	N	0.19112	0.55	0.09310	N	1	B;B;B;B;B	0.30406	0.119;0.119;0.119;0.119;0.278	B;B;B;B;B	0.30316	0.069;0.069;0.069;0.069;0.114	T	0.29058	-1.0024	10	0.59425	D	0.04	-0.0703	5.3258	0.15905	0.3835:0.0:0.6165:0.0	.	408;383;357;419;409	B4DXL1;C9JZP8;E9PKM2;Q8N6T0;E9PKZ8	.;.;.;CK080_HUMAN;.	N	574;383;357;409;408;383	ENSP00000354227:D574N	ENSP00000317408:D383N	D	+	1	0	C11orf80	66362465	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.185000	0.16958	0.205000	0.20568	0.655000	0.94253	GAT		0.443	C11orf80-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			NM_024650		11	58	0	0	0	0.008291	0	11	58		
ACY3	91703	broad.mit.edu	37	11	67414351	67414351	+	Missense_Mutation	SNP	G	G	C	rs145934175		TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr11:67414351G>C	ENST00000255082.3	-	3	334	c.164C>G	c.(163-165)cCg>cGg	p.P55R	ACY3_ENST00000529256.1_5'UTR	NM_080658.1	NP_542389.1	Q96HD9	ACY3_HUMAN	aspartoacylase (aminocyclase) 3	55	Hydrolytic domain. {ECO:0000250}.				viral process (GO:0016032)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	aminoacylase activity (GO:0004046)|hydrolase activity, acting on ester bonds (GO:0016788)|metal ion binding (GO:0046872)			endometrium(1)|lung(5)|prostate(2)	8					L-Aspartic Acid(DB00128)	TGTGGCTGCCGGGTTGGCCAG	0.662																																					GBM(56;346 1011 27014 29495 46841)	uc001omq.2		NaN																	0					0						c.(163-165)CCG>CGG		aspartoacylase 3	L-Aspartic Acid(DB00128)						22.0	23.0	23.0					11																	67414351		2198	4293	6491	SO:0001583	missense	91703				interspecies interaction between organisms	apical plasma membrane|cytoplasm	hydrolase activity, acting on ester bonds|metal ion binding	g.chr11:67414351G>C	BC008689	CCDS8175.1	11q13.2	2014-08-08			ENSG00000132744	ENSG00000132744			24104	protein-coding gene	gene with protein product		614413				14656720	Standard	NM_080658		Approved	HCBP1, MGC9740, ACY-3	uc001omq.3	Q96HD9	OTTHUMG00000167283	ENST00000255082.3:c.164C>G	11.37:g.67414351G>C	ENSP00000255082:p.Pro55Arg						p.P55R	NM_080658	NP_542389	Q96HD9	ACY3_HUMAN			3	335	-			55						Missense_Mutation	SNP	ENST00000255082.3	37	c.164C>G	CCDS8175.1	.	.	.	.	.	.	.	.	.	.	G	15.42	2.828295	0.50845	.	.	ENSG00000132744	ENST00000255082	D	0.98602	-5.02	3.88	3.88	0.44766	.	0.066734	0.64402	D	0.000012	D	0.99108	0.9693	M	0.92077	3.27	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.99239	1.0884	10	0.87932	D	0	.	14.9736	0.71251	0.0:0.0:1.0:0.0	.	55	Q96HD9	ACY3_HUMAN	R	55	ENSP00000255082:P55R	ENSP00000255082:P55R	P	-	2	0	ACY3	67170927	1.000000	0.71417	0.814000	0.32528	0.061000	0.15899	3.311000	0.51919	1.883000	0.54544	0.462000	0.41574	CCG		0.662	ACY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394002.1		NM_080658		8	24	0	0	0	0.004482	0	8	24		
TENM4	26011	broad.mit.edu	37	11	78399233	78399233	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr11:78399233G>T	ENST00000278550.7	-	29	5588	c.5126C>A	c.(5125-5127)cCt>cAt	p.P1709H		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	1709					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										CTGGCCAGTAGGGAAGGTCAC	0.507																																						uc001ozl.3		NaN																	0				ovary(2)|pancreas(2)	4						c.(5125-5127)CCT>CAT		odz, odd Oz/ten-m homolog 4							199.0	201.0	200.0					11																	78399233		2067	4202	6269	SO:0001583	missense	26011				signal transduction	integral to membrane		g.chr11:78399233G>T	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.5126C>A	11.37:g.78399233G>T	ENSP00000278550:p.Pro1709His					ODZ4_uc009yvb.1_Missense_Mutation_p.P293H	p.P1709H	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN			29	5589	-			1709			YD 4.|Extracellular (Potential).		A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	ENST00000278550.7	37	c.5126C>A	CCDS44688.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.904923	0.92035	.	.	ENSG00000149256	ENST00000278550;ENST00000530738	D;T	0.92048	-2.96;1.12	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	D	0.96399	0.8825	M	0.86268	2.805	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96501	0.9371	9	.	.	.	.	18.2058	0.89854	0.0:0.0:1.0:0.0	.	1709	Q6N022	TEN4_HUMAN	H	1709;173	ENSP00000278550:P1709H;ENSP00000431711:P173H	.	P	-	2	0	ODZ4	78076881	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.580000	0.98207	2.525000	0.85131	0.655000	0.94253	CCT		0.507	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2				31	182	1	0	2.81731e-10	0.010818	2.9715e-10	31	182		
SIK2	23235	broad.mit.edu	37	11	111558772	111558772	+	Nonsense_Mutation	SNP	A	A	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr11:111558772A>T	ENST00000304987.3	+	4	537	c.364A>T	c.(364-366)Aaa>Taa	p.K122*		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	122	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of insulin receptor signaling pathway (GO:0046626)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						AGCCAGGCGAAAATTCTGGCA	0.403																																						uc001plt.2		NaN																	0				central_nervous_system(2)|skin(1)	3						c.(364-366)AAA>TAA		SNF1-like kinase 2							115.0	109.0	111.0					11																	111558772		2201	4297	6498	SO:0001587	stop_gained	23235				intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:111558772A>T	AB018324	CCDS8347.1	11q23.1	2008-12-23	2008-12-23	2008-12-23	ENSG00000170145	ENSG00000170145			21680	protein-coding gene	gene with protein product		608973	"""SNF1-like kinase 2"""	SNF1LK2		15067358	Standard	NM_015191		Approved	KIAA0781, QIK, DKFZp434K1115, LOH11CR1I	uc001plt.3	Q9H0K1	OTTHUMG00000150644	ENST00000304987.3:c.364A>T	11.37:g.111558772A>T	ENSP00000305976:p.Lys122*						p.K122*	NM_015191	NP_056006	Q9H0K1	SIK2_HUMAN			4	482	+			122			Protein kinase.		A8K5B8|B0YJ94|O94878|Q17RV0|Q6AZE2|Q76N03|Q8NCV7|Q96CZ8	Nonsense_Mutation	SNP	ENST00000304987.3	37	c.364A>T	CCDS8347.1	.	.	.	.	.	.	.	.	.	.	A	37	6.247475	0.97412	.	.	ENSG00000170145	ENST00000304987	.	.	.	6.07	3.71	0.42584	.	0.043418	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.9507	0.58399	0.7445:0.2555:0.0:0.0	.	.	.	.	X	122	.	ENSP00000305976:K122X	K	+	1	0	SIK2	111063982	1.000000	0.71417	0.985000	0.45067	0.997000	0.91878	8.871000	0.92346	0.502000	0.28037	0.533000	0.62120	AAA		0.403	SIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319352.3		NM_015191		13	56	0	0	0	0.020292	0	13	56		
KMT2A	4297	broad.mit.edu	37	11	118382708	118382708	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr11:118382708C>G	ENST00000389506.5	+	31	11105	c.11105C>G	c.(11104-11106)tCa>tGa	p.S3702*	KMT2A_ENST00000534358.1_Nonsense_Mutation_p.S3705*|KMT2A_ENST00000354520.4_Nonsense_Mutation_p.S3664*|RP11-770J1.3_ENST00000532597.1_RNA			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	3702	FYR C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00876}.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										GAAGCTCGATCAAATGCCCGC	0.428																																						uc001pta.2		NaN								T|O					MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB		AML|ALL		0				lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25						c.(11104-11106)TCA>TGA		myeloid/lymphoid or mixed-lineage leukemia							106.0	98.0	101.0					11																	118382708		2200	4295	6495	SO:0001587	stop_gained	4297				apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding	g.chr11:118382708C>G	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.11105C>G	11.37:g.118382708C>G	ENSP00000374157:p.Ser3702*					MLL_uc001ptb.2_Nonsense_Mutation_p.S3705*	p.S3702*	NM_005933	NP_005924	Q03164	MLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)	31	11128	+	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)	3702			FYR C-terminal.		E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Nonsense_Mutation	SNP	ENST00000389506.5	37	c.11105C>G	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	C	52	19.510710	0.99920	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	.	.	.	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	19.5603	0.95369	0.0:1.0:0.0:0.0	.	.	.	.	X	3705;3702;3664;2612	.	ENSP00000346516:S3664X	S	+	2	0	MLL	117887918	1.000000	0.71417	0.938000	0.37757	0.999000	0.98932	7.384000	0.79751	2.637000	0.89404	0.650000	0.86243	TCA		0.428	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2		NM_005933		7	38	0	0	0	0.001984	0	7	38		
OR8D1	283159	broad.mit.edu	37	11	124179947	124179947	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr11:124179947C>T	ENST00000357821.2	-	1	786	c.716G>A	c.(715-717)gGa>gAa	p.G239E		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	239						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		GCTGCATGTTCCAAAAGCTTT	0.517																																						uc010sag.1		NaN																	0				ovary(2)|skin(1)	3						c.(715-717)GGA>GAA		olfactory receptor, family 8, subfamily D,							84.0	72.0	76.0					11																	124179947		2201	4299	6500	SO:0001583	missense	283159				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124179947C>T	AF238489	CCDS31706.1	11q25	2012-08-09			ENSG00000196341	ENSG00000196341		"""GPCR / Class A : Olfactory receptors"""	8481	protein-coding gene	gene with protein product				OR8D3			Standard	NM_001002917		Approved	OST004	uc010sag.2	Q8WZ84	OTTHUMG00000165977	ENST00000357821.2:c.716G>A	11.37:g.124179947C>T	ENSP00000350474:p.Gly239Glu						p.G239E	NM_001002917	NP_001002917	Q8WZ84	OR8D1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)	1	716	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	239			Helical; Name=6; (Potential).		B2RNL4|Q6IEW1|Q8NGH0	Missense_Mutation	SNP	ENST00000357821.2	37	c.716G>A	CCDS31706.1	.	.	.	.	.	.	.	.	.	.	c	11.15	1.553537	0.27739	.	.	ENSG00000196341	ENST00000357821	T	0.00069	8.77	4.29	2.3	0.28687	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36665	U	0.002470	T	0.00241	0.0007	L	0.55103	1.725	0.09310	N	1	P	0.46064	0.872	P	0.51550	0.673	T	0.40850	-0.9541	10	0.87932	D	0	.	8.2993	0.32004	0.0:0.5397:0.3627:0.0976	.	239	Q8WZ84	OR8D1_HUMAN	E	239	ENSP00000350474:G239E	ENSP00000350474:G239E	G	-	2	0	OR8D1	123685157	0.001000	0.12720	0.002000	0.10522	0.003000	0.03518	0.923000	0.28757	1.038000	0.40049	0.508000	0.49915	GGA		0.517	OR8D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387285.1		NM_001002917		17	57	0	0	0	0.028581	0	17	57		
OR8B2	26595	broad.mit.edu	37	11	124252654	124252654	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr11:124252654C>T	ENST00000375013.2	-	1	604	c.586G>A	c.(586-588)Gag>Aag	p.E196K		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	196						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(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		ACAACCACCTCGTTGACATAG	0.433																																						uc010sai.1		NaN																	0					0						c.(586-588)GAG>AAG		olfactory receptor, family 8, subfamily B,							95.0	97.0	96.0					11																	124252654		2201	4299	6500	SO:0001583	missense	26595				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124252654C>T	AB065826	CCDS31708.1	11q24.1	2012-08-09			ENSG00000204293	ENSG00000204293		"""GPCR / Class A : Olfactory receptors"""	8471	protein-coding gene	gene with protein product							Standard	XM_005271500		Approved		uc010sai.2	Q96RD0	OTTHUMG00000165982	ENST00000375013.2:c.586G>A	11.37:g.124252654C>T	ENSP00000364152:p.Glu196Lys						p.E196K	NM_001005468	NP_001005468	Q96RD0	OR8B2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)	1	586	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	196			Extracellular (Potential).		Q8NGH2	Missense_Mutation	SNP	ENST00000375013.2	37	c.586G>A	CCDS31708.1	.	.	.	.	.	.	.	.	.	.	c	3.423	-0.117769	0.06838	.	.	ENSG00000204293	ENST00000375013	T	0.00207	8.55	3.57	0.601	0.17529	GPCR, rhodopsin-like superfamily (1);	0.201922	0.34700	N	0.003743	T	0.00210	0.0006	M	0.74546	2.27	0.09310	N	1	B	0.16603	0.018	B	0.14023	0.01	T	0.42068	-0.9473	10	0.59425	D	0.04	.	8.2387	0.31645	0.0:0.6211:0.0:0.3789	.	196	Q96RD0	OR8B2_HUMAN	K	196	ENSP00000364152:E196K	ENSP00000364152:E196K	E	-	1	0	OR8B2	123757864	0.001000	0.12720	0.064000	0.19789	0.034000	0.12701	-0.064000	0.11636	-0.019000	0.14055	-1.116000	0.02052	GAG		0.433	OR8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387290.1		NM_001005468		18	83	0	0	0	0.007413	0	18	83		
ARHGAP32	9743	broad.mit.edu	37	11	128840032	128840032	+	Silent	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr11:128840032C>T	ENST00000310343.9	-	22	5033	c.5034G>A	c.(5032-5034)ttG>ttA	p.L1678L	ARHGAP32_ENST00000527272.1_Silent_p.L1329L|ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000392657.3_Silent_p.L1329L	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1678	Interaction with GAB2.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						GAAGGGGTCTCAACTGGACTG	0.512																																						uc009zcp.2		NaN																	0				lung(3)|ovary(2)	5						c.(5032-5034)TTG>TTA		Rho GTPase-activating protein isoform 1							87.0	85.0	86.0					11																	128840032		2201	4297	6498	SO:0001819	synonymous_variant	9743				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	g.chr11:128840032C>T	AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"""Rho GTPase activating proteins"""	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.5034G>A	11.37:g.128840032C>T						ARHGAP32_uc009zcq.1_3'UTR|ARHGAP32_uc009zco.2_Silent_p.L637L|ARHGAP32_uc001qez.2_Silent_p.L1329L	p.L1678L	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN			22	5034	-			1678			Interaction with GAB2.		I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Silent	SNP	ENST00000310343.9	37	c.5034G>A	CCDS44769.1																																																																																				0.512	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3		NM_014715		23	103	0	0	0	0.014323	0	23	103		
CD69	969	broad.mit.edu	37	12	9913402	9913402	+	Silent	SNP	A	A	G	rs149884332		TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr12:9913402A>G	ENST00000228434.3	-	1	95	c.15T>C	c.(13-15)aaT>aaC	p.N5N	CD69_ENST00000536709.1_Silent_p.N5N	NM_001781.2	NP_001772.1	Q07108	CD69_HUMAN	CD69 molecule	5					cellular response to drug (GO:0035690)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10						CTACGAAACAATTTTCAGAGC	0.408													A|||	1	0.000199681	0.0	0.0	5008	,	,		-128	0.001		0.0	False		,,,				2504	0.0					uc001qwk.2		NaN																	0					0						c.(13-15)AAT>AAC		CD69 molecule							143.0	130.0	134.0					12																	9913402		2203	4300	6503	SO:0001819	synonymous_variant	969					integral to plasma membrane	sugar binding|transmembrane receptor activity	g.chr12:9913402A>G	Z22576	CCDS8604.1	12p13	2011-08-30	2006-03-28		ENSG00000110848	ENSG00000110848		"""C-type lectin domain containing"", ""CD molecules"""	1694	protein-coding gene	gene with protein product		107273	"""CD69 antigen (p60, early T-cell activation antigen)"""			1612643	Standard	NM_001781		Approved	CLEC2C	uc001qwk.3	Q07108	OTTHUMG00000168481	ENST00000228434.3:c.15T>C	12.37:g.9913402A>G						CD69_uc010sgu.1_Silent_p.N5N|CD69_uc010sgv.1_Silent_p.N5N	p.N5N	NM_001781	NP_001772	Q07108	CD69_HUMAN			1	96	-			5			Cytoplasmic (Potential).			Silent	SNP	ENST00000228434.3	37	c.15T>C	CCDS8604.1																																																																																				0.408	CD69-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399876.1				14	88	0	0	0	0.024245	0	14	88		
CPNE8	144402	broad.mit.edu	37	12	39047685	39047685	+	Silent	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr12:39047685C>T	ENST00000331366.5	-	20	1790	c.1694G>A	c.(1693-1695)tGa>tAa	p.*565*	CPNE8_ENST00000538596.2_Silent_p.*234*|CPNE8_ENST00000546603.1_5'UTR|CPNE8_ENST00000360449.3_Silent_p.*553*	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII	0						extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				AGAGCACAGTCATATTTGAGT	0.458																																						uc001rls.1		NaN																	0				pancreas(1)	1						c.(1693-1695)TGA>TAA		copine VIII							79.0	73.0	75.0					12																	39047685		2203	4300	6503	SO:0001819	synonymous_variant	144402							g.chr12:39047685C>T	AY177785	CCDS8733.1	12q12	2008-02-05				ENSG00000139117			23498	protein-coding gene	gene with protein product						12670487	Standard	NM_153634		Approved		uc001rls.1	Q86YQ8	OTTHUMG00000169396	ENST00000331366.5:c.1694G>A	12.37:g.39047685C>T						CPNE8_uc001rlr.1_Silent_p.*224*	p.*565*	NM_153634	NP_705898	Q86YQ8	CPNE8_HUMAN			20	1778	-	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)	565					Q2TB41|Q86VY2	Silent	SNP	ENST00000331366.5	37	c.1694G>A	CCDS8733.1																																																																																				0.458	CPNE8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403856.1		NM_153634		7	30	0	0	0	0.001984	0	7	30		
ARID2	196528	broad.mit.edu	37	12	46125015	46125015	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr12:46125015C>T	ENST00000334344.6	+	3	374	c.202C>T	c.(202-204)Cag>Tag	p.Q68*	ARID2_ENST00000422737.1_5'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	68	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.				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)		TGAGAAGAATCAGTGGGGAGA	0.378			"""N, S, F"""		hepatocellular carcinoma																																	uc001ros.1		NaN		Rec	yes		12	12q12	196528		AT rich interactive domain 2			E					0				ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10						c.(202-204)CAG>TAG		AT rich interactive domain 2 (ARID, RFX-like)							125.0	132.0	129.0					12																	46125015		2203	4300	6503	SO:0001587	stop_gained	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46125015C>T		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.202C>T	12.37:g.46125015C>T	ENSP00000335044:p.Gln68*					ARID2_uc001ror.2_Nonsense_Mutation_p.Q68*	p.Q68*	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	3	202	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	68			ARID.		Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Nonsense_Mutation	SNP	ENST00000334344.6	37	c.202C>T	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	C	37	6.242469	0.97408	.	.	ENSG00000189079	ENST00000334344	.	.	.	4.69	4.69	0.59074	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-2.5187	18.0491	0.89342	0.0:1.0:0.0:0.0	.	.	.	.	X	68	.	ENSP00000335044:Q68X	Q	+	1	0	ARID2	44411282	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.279000	0.78599	2.297000	0.77311	0.650000	0.86243	CAG		0.378	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2		XM_350875		16	64	0	0	0	0.028581	0	16	64		
H1FNT	341567	broad.mit.edu	37	12	48723522	48723522	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr12:48723522G>A	ENST00000335017.1	+	1	760	c.448G>A	c.(448-450)Gcg>Acg	p.A150T		NM_181788.1	NP_861453.1	Q75WM6	H1FNT_HUMAN	H1 histone family, member N, testis-specific	150	Arg-rich.				chromosome condensation (GO:0030261)|multicellular organismal development (GO:0007275)|sperm chromatin condensation (GO:0035092)|spermatid nucleus elongation (GO:0007290)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)	p.A150T(1)		endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	13						GACCCCAGCCGCGCCCCGGAG	0.706																																						uc001rrm.2		NaN																	1	Substitution - Missense(1)		prostate(1)	pancreas(1)	1						c.(448-450)GCG>ACG		H1 histone family, member N, testis-specific							6.0	9.0	8.0					12																	48723522		2080	4116	6196	SO:0001583	missense	341567				chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation	nuclear chromatin	ATP binding|DNA binding	g.chr12:48723522G>A	AY302593	CCDS8762.1	12q13.11	2011-01-27				ENSG00000187166		"""Histones / Replication-independent"""	24893	protein-coding gene	gene with protein product						15710904	Standard	NM_181788		Approved	HANP1, H1T2	uc001rrm.3	Q75WM6		ENST00000335017.1:c.448G>A	12.37:g.48723522G>A	ENSP00000334805:p.Ala150Thr						p.A150T	NM_181788	NP_861453	Q75WM6	H1FNT_HUMAN			1	760	+			150			Arg-rich.		Q147U8|Q5GKZ5|Q7Z694	Missense_Mutation	SNP	ENST00000335017.1	37	c.448G>A	CCDS8762.1	.	.	.	.	.	.	.	.	.	.	G	16.57	3.160598	0.57368	.	.	ENSG00000187166	ENST00000335017	T	0.19806	2.12	4.21	-5.82	0.02333	.	2.643130	0.02011	N	0.047000	T	0.11580	0.0282	L	0.29908	0.895	0.09310	N	1	B	0.31893	0.345	B	0.16289	0.015	T	0.09662	-1.0664	10	0.42905	T	0.14	-1.1661	3.9761	0.09475	0.5718:0.1174:0.1919:0.1189	.	150	Q75WM6	H1FNT_HUMAN	T	150	ENSP00000334805:A150T	ENSP00000334805:A150T	A	+	1	0	H1FNT	47009789	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.229000	0.09098	-1.570000	0.01665	-0.482000	0.04802	GCG		0.706	H1FNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406516.1		NM_181788		7	24	0	0	0	0.001984	0	7	24		
KMT2D	8085	broad.mit.edu	37	12	49444142	49444142	+	Nonsense_Mutation	SNP	T	T	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr12:49444142T>A	ENST00000301067.7	-	11	3228	c.3229A>T	c.(3229-3231)Aaa>Taa	p.K1077*		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1077	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										TCTGAAACTTTCTCAGTCTCC	0.617																																						uc001rta.3		NaN								N|F|Mis							medulloblastoma|renal		0				kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(3229-3231)AAA>TAA		myeloid/lymphoid or mixed-lineage leukemia 2							36.0	39.0	38.0					12																	49444142		2046	4175	6221	SO:0001587	stop_gained	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49444142T>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.3229A>T	12.37:g.49444142T>A	ENSP00000301067:p.Lys1077*	HNSCC(34;0.089)					p.K1077*	NM_003482	NP_003473	O14686	MLL2_HUMAN			11	3229	-			1077			Pro-rich.		O14687	Nonsense_Mutation	SNP	ENST00000301067.7	37	c.3229A>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	T	37	6.277996	0.97435	.	.	ENSG00000167548	ENST00000301067	.	.	.	4.63	3.5	0.40072	.	0.000000	0.37136	N	0.002224	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	7.9085	0.29776	0.0:0.0984:0.0:0.9016	.	.	.	.	X	1077	.	ENSP00000301067:K1077X	K	-	1	0	MLL2	47730409	0.992000	0.36948	0.944000	0.38274	0.451000	0.32288	1.669000	0.37492	2.027000	0.59764	0.460000	0.39030	AAA		0.617	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2				5	24	0	0	0	0.014758	0	5	24		
PMEL	6490	broad.mit.edu	37	12	56349288	56349288	+	Silent	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr12:56349288G>C	ENST00000548747.1	-	9	2384	c.1722C>G	c.(1720-1722)acC>acG	p.T574T	PMEL_ENST00000550464.1_Silent_p.T488T|PMEL_ENST00000539511.1_Silent_p.T488T|PMEL_ENST00000552882.1_Silent_p.T574T|PMEL_ENST00000550447.1_Silent_p.T203T|PMEL_ENST00000548689.1_5'Flank|PMEL_ENST00000360714.4_Silent_p.T574T|PMEL_ENST00000548493.1_Silent_p.T574T|PMEL_ENST00000449260.2_Silent_p.T574T|PMEL_ENST00000536427.1_Silent_p.T532T			P40967	PMEL_HUMAN	premelanosome protein	574					melanin biosynthetic process (GO:0042438)|melanosome organization (GO:0032438)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|multivesicular body membrane (GO:0032585)|plasma membrane (GO:0005886)				NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CCAGGCTGTTGGTATCAGCCA	0.582																																						uc001sip.2		NaN																	0					0						c.(1720-1722)ACC>ACG		silver homolog							76.0	71.0	72.0					12																	56349288		2203	4300	6503	SO:0001819	synonymous_variant	6490				melanin biosynthetic process|melanosome organization	endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane	protein binding	g.chr12:56349288G>C	AK092881	CCDS8897.1, CCDS55833.1, CCDS55834.1	12q13-q14	2010-12-17	2010-12-17	2010-12-17	ENSG00000185664	ENSG00000185664			10880	protein-coding gene	gene with protein product		155550	"""silver (mouse homolog) like"", ""silver homolog (mouse)"""	SIL, SILV		8739560	Standard	NM_001200053		Approved	D12S53E, SI, Pmel17, gp100	uc001siq.3	P40967		ENST00000548747.1:c.1722C>G	12.37:g.56349288G>C						SILV_uc001siq.2_Silent_p.T574T|SILV_uc010spx.1_Silent_p.T488T|SILV_uc001sir.2_Silent_p.T574T	p.T574T	NM_006928	NP_008859	P40967	PMEL_HUMAN			9	1753	-			574			Lumenal (Potential).		B3KS57|B7Z6D7|Q12763|Q14448|Q14817|Q16565	Silent	SNP	ENST00000548747.1	37	c.1722C>G	CCDS8897.1	.	.	.	.	.	.	.	.	.	.	G	8.603	0.887309	0.17540	.	.	ENSG00000185664	ENST00000549404	.	.	.	5.7	3.78	0.43462	.	.	.	.	.	T	0.54967	0.1891	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49447	-0.8939	4	.	.	.	-5.5644	6.0441	0.19750	0.1627:0.0:0.6858:0.1515	.	.	.	.	E	420	.	.	Q	-	1	0	PMEL	54635555	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.896000	0.39789	0.790000	0.33803	0.655000	0.94253	CAA		0.582	PMEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409626.1		NM_006928		16	73	0	0	0	0.024245	0	16	73		
ANKRD52	283373	broad.mit.edu	37	12	56647181	56647181	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr12:56647181C>T	ENST00000267116.7	-	10	1112	c.991G>A	c.(991-993)Gag>Aag	p.E331K		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	331										endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						CAATCAATCTCGCTGCCTGTG	0.532																																						uc001skm.3		NaN																	0				ovary(2)	2						c.(991-993)GAG>AAG		ankyrin repeat domain 52							67.0	68.0	68.0					12																	56647181		2120	4248	6368	SO:0001583	missense	283373						protein binding	g.chr12:56647181C>T	AK091555	CCDS44920.1	12q13.3	2013-01-10			ENSG00000139645	ENSG00000139645		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	26614	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit C"""						Standard	NM_173595		Approved	FLJ34236, PP6-ARS-C	uc001skm.4	Q8NB46	OTTHUMG00000170329	ENST00000267116.7:c.991G>A	12.37:g.56647181C>T	ENSP00000267116:p.Glu331Lys						p.E331K	NM_173595	NP_775866	Q8NB46	ANR52_HUMAN			10	1081	-			331			ANK 10.		A6NE79|B1Q2K2	Missense_Mutation	SNP	ENST00000267116.7	37	c.991G>A	CCDS44920.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.827327	0.90955	.	.	ENSG00000139645	ENST00000267116;ENST00000417002	T	0.64618	-0.11	4.0	4.0	0.46444	Ankyrin repeat-containing domain (4);	0.193135	0.43747	D	0.000522	T	0.42653	0.1212	N	0.05124	-0.11	0.80722	D	1	P	0.43314	0.803	B	0.40702	0.338	T	0.50154	-0.8861	10	0.38643	T	0.18	.	15.4431	0.75204	0.0:1.0:0.0:0.0	.	331	Q8NB46	ANR52_HUMAN	K	331	ENSP00000267116:E331K	ENSP00000267116:E331K	E	-	1	0	ANKRD52	54933448	1.000000	0.71417	0.997000	0.53966	0.844000	0.47949	7.643000	0.83403	2.247000	0.74100	0.655000	0.94253	GAG		0.532	ANKRD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408539.1		NM_173595		17	72	0	0	0	0.006122	0	17	72		
BEST3	144453	broad.mit.edu	37	12	70070717	70070717	+	Silent	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr12:70070717G>A	ENST00000330891.5	-	7	1072	c.846C>T	c.(844-846)ttC>ttT	p.F282F	BEST3_ENST00000331471.4_Silent_p.F282F|BEST3_ENST00000476098.1_Intron|BEST3_ENST00000553096.1_Silent_p.F176F|BEST3_ENST00000488961.1_Intron	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	282					negative regulation of ion transport (GO:0043271)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			CTGCATAGAAGAAGAATTGTA	0.473																																						uc001svg.2		NaN																	0					0						c.(844-846)TTC>TTT		vitelliform macular dystrophy 2-like 3 isoform							126.0	120.0	122.0					12																	70070717		1934	4126	6060	SO:0001819	synonymous_variant	144453					chloride channel complex|plasma membrane	chloride channel activity	g.chr12:70070717G>A	AF440758	CCDS8992.2, CCDS41810.1, CCDS61192.1, CCDS61193.1, CCDS73496.1	12q14.2-q15	2012-09-26	2006-10-18	2006-10-18	ENSG00000127325	ENSG00000127325		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17105	protein-coding gene	gene with protein product		607337	"""vitelliform macular dystrophy 2-like 3"""	VMD2L3		12032738	Standard	NM_032735		Approved	MGC40411, MGC13168	uc001svg.3	Q8N1M1	OTTHUMG00000149919	ENST00000330891.5:c.846C>T	12.37:g.70070717G>A						BEST3_uc001svd.1_Silent_p.F282F|BEST3_uc001sve.1_Intron|BEST3_uc001svf.2_Intron|BEST3_uc010stm.1_Silent_p.F176F|BEST3_uc001svh.2_Intron	p.F282F	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)		7	1073	-	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		282			Helical; (Potential).		B5MDI8|F8VVZ2|Q53YQ7|Q8N356|Q8NFT9|Q9BR80	Silent	SNP	ENST00000330891.5	37	c.846C>T	CCDS8992.2																																																																																				0.473	BEST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313908.2		NM_152439		28	147	0	0	0	0.00632	0	28	147		
NDUFA12	55967	broad.mit.edu	37	12	95397387	95397387	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr12:95397387G>T	ENST00000327772.2	-	1	159	c.70C>A	c.(70-72)Cta>Ata	p.L24I	NDUFA12_ENST00000547986.1_Missense_Mutation_p.L24I|NDUFA12_ENST00000547157.1_Missense_Mutation_p.L24I	NM_018838.4	NP_061326.1	Q9UI09	NDUAC_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12	24					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|respiratory gaseous exchange (GO:0007585)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			endometrium(1)|large_intestine(2)|lung(3)	6						AAAACCCGTAGATAGCCTCGG	0.637																																						uc001tdl.2		NaN																	0					0						c.(70-72)CTA>ATA		13kDa differentiation-associated protein	NADH(DB00157)						74.0	82.0	79.0					12																	95397387		2203	4300	6503	SO:0001583	missense	55967				respiratory electron transport chain|respiratory gaseous exchange|response to oxidative stress|transport	mitochondrial respiratory chain complex I	electron carrier activity|NADH dehydrogenase (ubiquinone) activity	g.chr12:95397387G>T	BC005936	CCDS9050.1, CCDS58263.1	12q22	2011-07-04			ENSG00000184752	ENSG00000184752		"""Mitochondrial respiratory chain complex / Complex I"""	23987	protein-coding gene	gene with protein product	"""complex I B17.2 subunit"""	614530				10830904, 9827566	Standard	NM_018838		Approved	DAP13, B17.2	uc001tdl.4	Q9UI09		ENST00000327772.2:c.70C>A	12.37:g.95397387G>T	ENSP00000330737:p.Leu24Ile						p.L24I	NM_018838	NP_061326	Q9UI09	NDUAC_HUMAN			1	125	-			24					F8VQS7|Q53XX0|Q9BRV6	Missense_Mutation	SNP	ENST00000327772.2	37	c.70C>A	CCDS9050.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.578010	0.45902	.	.	ENSG00000184752	ENST00000547157;ENST00000327772;ENST00000547986	T	0.46451	0.87	5.2	2.05	0.26809	.	0.322809	0.28290	N	0.015900	T	0.24736	0.0600	L	0.39020	1.185	0.09310	N	1	B	0.09022	0.002	B	0.13407	0.009	T	0.09952	-1.0651	10	0.20046	T	0.44	-12.322	2.293	0.04143	0.198:0.2043:0.4679:0.1297	.	24	Q9UI09	NDUAC_HUMAN	I	24	ENSP00000330737:L24I	ENSP00000330737:L24I	L	-	1	2	NDUFA12	93921518	0.277000	0.24220	0.063000	0.19743	0.278000	0.26855	0.583000	0.23849	0.628000	0.30357	0.313000	0.20887	CTA		0.637	NDUFA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407245.2		NM_018838		30	168	1	0	5.91797e-21	0.012213	6.43389e-21	30	168		
CFAP54	144535	broad.mit.edu	37	12	97159026	97159026	+	Intron	SNP	A	A	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr12:97159026A>G	ENST00000524981.4	+	60	8304							Q96N23	CL055_HUMAN																			TATTATGCAAAAAAACTGATA	0.343																																						uc001tet.1		NaN																	0				skin(6)|ovary(1)	7						c.(3586-3588)AAA>GAA		hypothetical protein LOC374467							41.0	40.0	41.0					12																	97159026		2202	4296	6498	SO:0001627	intron_variant	374467							g.chr12:97159026A>G																												ENST00000524981.4:c.8281+30A>G	12.37:g.97159026A>G							p.K1196E	NM_198520	NP_940922	Q6ZTY8	CL063_HUMAN			27	3664	+			1196						Missense_Mutation	SNP	ENST00000524981.4	37	c.3586A>G		.	.	.	.	.	.	.	.	.	.	A	11.04	1.520813	0.27211	.	.	ENSG00000188596	ENST00000342887	.	.	.	4.58	-0.352	0.12598	.	6.459350	0.00397	N	0.000059	T	0.21801	0.0525	.	.	.	0.09310	N	1	B	0.32829	0.386	B	0.28139	0.086	T	0.10268	-1.0637	7	.	.	.	.	4.6741	0.12703	0.5139:0.1514:0.0:0.3347	.	1196	Q6ZTY8	CL063_HUMAN	E	1196	.	.	K	+	1	0	C12orf63	95683157	0.008000	0.16893	0.001000	0.08648	0.054000	0.15201	2.315000	0.43752	0.092000	0.17331	0.402000	0.26972	AAA		0.343	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000395046.4				5	27	0	0	0	0.014758	0	5	27		
ANO4	121601	broad.mit.edu	37	12	101333128	101333128	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr12:101333128G>A	ENST00000392977.3	+	4	406	c.196G>A	c.(196-198)Gaa>Aaa	p.E66K	ANO4_ENST00000538618.1_Missense_Mutation_p.E232K|ANO4_ENST00000392979.3_Missense_Mutation_p.E31K|ANO4_ENST00000299222.9_5'UTR			Q32M45	ANO4_HUMAN	anoctamin 4	66					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TGATGAATTAGAAGCTGTCAG	0.413										HNSCC(74;0.22)																												uc010svm.1		NaN																	0				ovary(4)|skin(2)	6						c.(196-198)GAA>AAA		anoctamin 4							138.0	134.0	136.0					12																	101333128		2203	4300	6503	SO:0001583	missense	121601					chloride channel complex	chloride channel activity	g.chr12:101333128G>A	AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	23837	protein-coding gene	gene with protein product		610111	"""transmembrane protein 16D"""	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.196G>A	12.37:g.101333128G>A	ENSP00000376703:p.Glu66Lys	HNSCC(74;0.22)				ANO4_uc010svl.1_RNA|ANO4_uc001thw.2_Missense_Mutation_p.E31K|ANO4_uc001thx.2_Missense_Mutation_p.E66K	p.E66K	NM_178826	NP_849148	Q32M45	ANO4_HUMAN			4	768	+			66			Extracellular (Potential).		Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	ENST00000392977.3	37	c.196G>A		.	.	.	.	.	.	.	.	.	.	G	28.7	4.945214	0.92593	.	.	ENSG00000151572	ENST00000538618;ENST00000392979;ENST00000392977	T;T;T	0.42513	0.97;0.97;0.97	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.39118	0.1066	L	0.38175	1.15	0.80722	D	1	B;B	0.21606	0.002;0.058	B;B	0.19946	0.001;0.027	T	0.15954	-1.0419	10	0.54805	T	0.06	.	19.4966	0.95075	0.0:0.0:1.0:0.0	.	66;31	Q32M45;Q32M45-2	ANO4_HUMAN;.	K	232;31;66	ENSP00000443751:E232K;ENSP00000376705:E31K;ENSP00000376703:E66K	ENSP00000376703:E66K	E	+	1	0	ANO4	99857259	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.605000	0.82844	2.616000	0.88540	0.650000	0.86243	GAA		0.413	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1		NM_178826		26	74	0	0	0	0.024334	0	26	74		
DTX1	1840	broad.mit.edu	37	12	113532886	113532886	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr12:113532886G>A	ENST00000257600.3	+	7	1929	c.1426G>A	c.(1426-1428)Ggg>Agg	p.G476R	DTX1_ENST00000547974.1_3'UTR	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	476					cell surface receptor signaling pathway (GO:0007166)|glial cell differentiation (GO:0010001)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of T cell differentiation (GO:0045581)|Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)|regulation of Notch signaling pathway (GO:0008593)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Notch binding (GO:0005112)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						GGCCATCTACGGGGAGAAGAC	0.652																																						uc001tuk.1		NaN																	0				lung(2)|ovary(1)|central_nervous_system(1)	4						c.(1426-1428)GGG>AGG		deltex homolog 1							58.0	56.0	57.0					12																	113532886		2203	4300	6503	SO:0001583	missense	1840				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	g.chr12:113532886G>A	AF053700	CCDS9164.1	12q24	2014-01-28	2014-01-28			ENSG00000135144			3060	protein-coding gene	gene with protein product		602582	"""deltex homolog 1 (Drosophila)"""			9590294, 12670957	Standard	NM_004416		Approved	hDx-1	uc001tuk.1	Q86Y01	OTTHUMG00000169610	ENST00000257600.3:c.1426G>A	12.37:g.113532886G>A	ENSP00000257600:p.Gly476Arg						p.G476R	NM_004416	NP_004407	Q86Y01	DTX1_HUMAN			7	1762	+			476					O60630|Q9BS04	Missense_Mutation	SNP	ENST00000257600.3	37	c.1426G>A	CCDS9164.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.361167	0.82353	.	.	ENSG00000135144	ENST00000257600	T	0.22336	1.96	4.54	3.65	0.41850	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.55016	0.1894	H	0.95712	3.71	0.80722	D	1	D	0.71674	0.998	D	0.69479	0.964	T	0.66160	-0.5993	10	0.87932	D	0	-19.2981	11.2215	0.48857	0.0931:0.0:0.9069:0.0	.	476	Q86Y01	DTX1_HUMAN	R	476	ENSP00000257600:G476R	ENSP00000257600:G476R	G	+	1	0	DTX1	112017269	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.576000	0.98192	0.877000	0.35895	0.561000	0.74099	GGG		0.652	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405045.2				14	82	0	0	0	0.016723	0	14	82		
LRRC43	254050	broad.mit.edu	37	12	122670812	122670812	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr12:122670812G>A	ENST00000339777.4	+	3	515	c.487G>A	c.(487-489)Gag>Aag	p.E163K	LRRC43_ENST00000425921.1_5'UTR	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	163										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		TCGAATCAAGGAGGTGGATGC	0.562																																						uc009zxm.2		NaN																	0					0						c.(487-489)GAG>AAG		leucine rich repeat containing 43 isoform 1							60.0	63.0	62.0					12																	122670812		1921	4136	6057	SO:0001583	missense	254050							g.chr12:122670812G>A	AK124107	CCDS45001.1	12q24.31	2014-09-11			ENSG00000158113	ENSG00000158113			28562	protein-coding gene	gene with protein product						12477932	Standard	NM_152759		Approved	MGC35140	uc009zxm.3	Q8N309	OTTHUMG00000168915	ENST00000339777.4:c.487G>A	12.37:g.122670812G>A	ENSP00000344233:p.Glu163Lys					LRRC43_uc001ubw.3_5'UTR|LRRC43_uc009zxl.1_RNA	p.E163K	NM_001098519	NP_001091989	Q8N309	LRC43_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)	3	512	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		163			LRR 1.		Q6ZVT9	Missense_Mutation	SNP	ENST00000339777.4	37	c.487G>A	CCDS45001.1	.	.	.	.	.	.	.	.	.	.	G	15.42	2.827677	0.50845	.	.	ENSG00000158113	ENST00000339777	T	0.21734	1.99	5.11	3.97	0.46021	.	.	.	.	.	T	0.13372	0.0324	L	0.48362	1.52	0.80722	D	1	B	0.23806	0.091	B	0.23716	0.048	T	0.11817	-1.0572	9	0.02654	T	1	-14.6952	4.594	0.12320	0.2438:0.0:0.7562:0.0	.	163	Q8N309	LRC43_HUMAN	K	163	ENSP00000344233:E163K	ENSP00000344233:E163K	E	+	1	0	LRRC43	121236765	0.998000	0.40836	0.946000	0.38457	0.816000	0.46133	1.983000	0.40648	2.535000	0.85469	0.655000	0.94253	GAG		0.562	LRRC43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401589.1		NM_152759		3	11	0	0	0	0.004672	0	3	11		
POU4F1	5457	broad.mit.edu	37	13	79176005	79176005	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr13:79176005C>G	ENST00000377208.5	-	2	1016	c.805G>C	c.(805-807)Gag>Cag	p.E269Q	RNF219-AS1_ENST00000444769.3_RNA|RNF219-AS1_ENST00000606429.1_RNA|RP11-52L5.6_ENST00000607269.1_RNA|RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000607220.1_RNA|RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000606124.1_RNA|RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000606376.1_RNA|RNF219-AS1_ENST00000607205.1_RNA	NM_006237.3	NP_006228.3	Q01851	PO4F1_HUMAN	POU class 4 homeobox 1	269	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				axonogenesis (GO:0007409)|cell migration in hindbrain (GO:0021535)|central nervous system neuron differentiation (GO:0021953)|habenula development (GO:0021986)|innervation (GO:0060384)|mesoderm development (GO:0007498)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|peripheral nervous system neuron development (GO:0048935)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proprioception involved in equilibrioception (GO:0051355)|regulation of neurogenesis (GO:0050767)|sensory system development (GO:0048880)|suckling behavior (GO:0001967)|synapse assembly (GO:0007416)|transcription from RNA polymerase II promoter (GO:0006366)|trigeminal nerve development (GO:0021559)|ventricular compact myocardium morphogenesis (GO:0003223)	neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)	16		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.129)		GCGAACGCCTCGAGCTCGCGC	0.756																																					Melanoma(109;347 2166 14574 42843)|Ovarian(81;1394 1854 22417 48351)	uc001vkv.2		NaN																	0				ovary(1)	1						c.(805-807)GAG>CAG		POU domain, class 4, transcription factor 1							13.0	13.0	13.0					13																	79176005		2195	4295	6490	SO:0001583	missense	5457				axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr13:79176005C>G	X64624	CCDS31996.1	13q31.1	2011-06-20	2007-07-13		ENSG00000152192	ENSG00000152192		"""Homeoboxes / POU class"""	9218	protein-coding gene	gene with protein product		601632	"""POU domain class 4, transcription factor 1"""	BRN3A		1357630	Standard	NM_006237		Approved	RDC-1	uc001vkv.3	Q01851	OTTHUMG00000017119	ENST00000377208.5:c.805G>C	13.37:g.79176005C>G	ENSP00000366413:p.Glu269Gln					uc001vku.1_Intron	p.E269Q	NM_006237	NP_006228	Q01851	PO4F1_HUMAN		GBM - Glioblastoma multiforme(99;0.129)	2	1039	-		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)	269			POU-specific.		Q14986|Q15318|Q5T227	Missense_Mutation	SNP	ENST00000377208.5	37	c.805G>C	CCDS31996.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.230385	0.58777	.	.	ENSG00000152192	ENST00000377208	T	0.72282	-0.64	3.21	2.32	0.28847	POU-specific (3);Lambda repressor-like, DNA-binding (2);	0.000000	0.85682	U	0.000000	T	0.77046	0.4073	M	0.76002	2.32	0.58432	D	0.999999	D	0.54772	0.968	P	0.54924	0.764	T	0.78526	-0.2170	10	0.87932	D	0	.	10.599	0.45356	0.1947:0.8052:0.0:0.0	.	269	Q01851	PO4F1_HUMAN	Q	269	ENSP00000366413:E269Q	ENSP00000366413:E269Q	E	-	1	0	POU4F1	78074006	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.196000	0.77805	0.658000	0.30925	0.393000	0.25936	GAG		0.756	POU4F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045360.3				5	23	0	0	0	0.014758	0	5	23		
RAB20	55647	broad.mit.edu	37	13	111176499	111176499	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr13:111176499G>A	ENST00000267328.3	-	2	431	c.218C>T	c.(217-219)gCg>gTg	p.A73V		NM_017817.1	NP_060287.1	Q9NX57	RAB20_HUMAN	RAB20, member RAS oncogene family	73					phagosome acidification (GO:0090383)|phagosome-lysosome fusion (GO:0090385)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)	GTP binding (GO:0005525)			endometrium(2)|large_intestine(2)|lung(3)	7	all_cancers(4;1.54e-11)|all_epithelial(4;1.22e-06)|all_lung(23;1e-05)|Lung NSC(43;0.000453)|Colorectal(4;0.00323)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.197)			GATGGCGGCCGCCCCCCGGCA	0.607																																						uc001vqy.2		NaN																	0					0						c.(217-219)GCG>GTG		RAB20, member RAS oncogene family							35.0	38.0	37.0					13																	111176499		2203	4300	6503	SO:0001583	missense	55647				protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding	g.chr13:111176499G>A	AK000436	CCDS9512.1	13q34	2008-07-18			ENSG00000139832	ENSG00000139832		"""RAB, member RAS oncogene"""	18260	protein-coding gene	gene with protein product						11697911	Standard	NM_017817		Approved	FLJ20429	uc001vqy.3	Q9NX57	OTTHUMG00000017343	ENST00000267328.3:c.218C>T	13.37:g.111176499G>A	ENSP00000267328:p.Ala73Val						p.A73V	NM_017817	NP_060287	Q9NX57	RAB20_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.197)		2	423	-	all_cancers(4;1.54e-11)|all_epithelial(4;1.22e-06)|all_lung(23;1e-05)|Lung NSC(43;0.000453)|Colorectal(4;0.00323)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		73					Q5T9X5|Q9NX49	Missense_Mutation	SNP	ENST00000267328.3	37	c.218C>T	CCDS9512.1	.	.	.	.	.	.	.	.	.	.	G	19.93	3.918164	0.73098	.	.	ENSG00000139832	ENST00000267328	T	0.76316	-1.01	5.09	5.09	0.68999	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84848	0.5563	L	0.43646	1.37	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86556	0.1838	10	0.87932	D	0	-23.8282	18.4999	0.90877	0.0:0.0:1.0:0.0	.	73	Q9NX57	RAB20_HUMAN	V	73	ENSP00000267328:A73V	ENSP00000267328:A73V	A	-	2	0	RAB20	109974500	1.000000	0.71417	0.071000	0.20095	0.135000	0.20990	9.239000	0.95389	2.364000	0.80123	0.561000	0.74099	GCG		0.607	RAB20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045760.2		NM_017817		29	81	0	0	0	0.008361	0	29	81		
NDRG2	57447	broad.mit.edu	37	14	21486650	21486650	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr14:21486650G>C	ENST00000556147.1	-	13	1767	c.827C>G	c.(826-828)tCa>tGa	p.S276*	NDRG2_ENST00000350792.3_Nonsense_Mutation_p.S262*|NDRG2_ENST00000554277.1_5'Flank|NDRG2_ENST00000360463.3_Nonsense_Mutation_p.S262*|NDRG2_ENST00000553503.1_Nonsense_Mutation_p.S262*|NDRG2_ENST00000397847.2_Nonsense_Mutation_p.S265*|NDRG2_ENST00000397851.2_Nonsense_Mutation_p.S276*|NDRG2_ENST00000298684.5_Nonsense_Mutation_p.S233*|NDRG2_ENST00000555158.1_Nonsense_Mutation_p.S262*|NDRG2_ENST00000397858.1_Nonsense_Mutation_p.S276*|NDRG2_ENST00000397853.3_Nonsense_Mutation_p.S276*|NDRG2_ENST00000397844.2_Intron|NDRG2_ENST00000403829.3_Nonsense_Mutation_p.S272*|NDRG2_ENST00000554104.1_Nonsense_Mutation_p.S189*|NDRG2_ENST00000298687.5_Nonsense_Mutation_p.S276*|NDRG2_ENST00000397855.3_Nonsense_Mutation_p.S233*|NDRG2_ENST00000554143.1_Nonsense_Mutation_p.S262*|NDRG2_ENST00000397856.3_Intron			Q9UN36	NDRG2_HUMAN	NDRG family member 2	276					cell differentiation (GO:0030154)|negative regulation of cytokine production (GO:0001818)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of smooth muscle cell proliferation (GO:0048662)|regulation of platelet-derived growth factor production (GO:0090361)|regulation of vascular endothelial growth factor production (GO:0010574)|substantia nigra development (GO:0021762)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)				breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	23	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		GTCCAGTTTTGAGTTACATTC	0.577																																						uc001vyy.2		NaN																	0				ovary(1)|breast(1)	2						c.(826-828)TCA>TGA		N-myc downstream-regulated gene 2 isoform a							90.0	85.0	87.0					14																	21486650		2203	4300	6503	SO:0001587	stop_gained	57447				cell differentiation|nervous system development	centrosome|cytosol|Golgi apparatus|nucleus|perinuclear region of cytoplasm		g.chr14:21486650G>C	AB033074	CCDS9564.1, CCDS9565.1, CCDS61384.1, CCDS61386.1, CCDS73613.1	14q11.2	2008-07-09			ENSG00000165795	ENSG00000165795			14460	protein-coding gene	gene with protein product		605272				10831399	Standard	NM_201535		Approved	KIAA1248, SYLD	uc001vyx.3	Q9UN36	OTTHUMG00000029619	ENST00000556147.1:c.827C>G	14.37:g.21486650G>C	ENSP00000451712:p.Ser276*					NDRG2_uc010tll.1_Nonsense_Mutation_p.S272*|NDRG2_uc001vyt.2_Nonsense_Mutation_p.S189*|NDRG2_uc001vyu.2_Nonsense_Mutation_p.S233*|NDRG2_uc001vyv.2_Nonsense_Mutation_p.S262*|NDRG2_uc001vyw.2_Nonsense_Mutation_p.S262*|NDRG2_uc001vzb.2_Nonsense_Mutation_p.S216*|NDRG2_uc001vyx.2_Nonsense_Mutation_p.S276*|NDRG2_uc001vza.2_Nonsense_Mutation_p.S262*|NDRG2_uc001vyz.2_Nonsense_Mutation_p.S262*|NDRG2_uc001vzc.2_Intron|NDRG2_uc001vze.2_Nonsense_Mutation_p.S276*|NDRG2_uc001vzd.2_Nonsense_Mutation_p.S276*|NDRG2_uc001vzg.2_Nonsense_Mutation_p.S262*|NDRG2_uc001vzf.2_Nonsense_Mutation_p.S262*|NDRG2_uc010aig.2_Nonsense_Mutation_p.S265*	p.S276*	NM_201540	NP_963834	Q9UN36	NDRG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)	14	977	-	all_cancers(95;0.00185)		276					B3KUE3|B4DE86|B7WP11|B7WPD5|D3DS07|D3DS10|Q567T1|Q68DW2|Q86U08|Q86U46|Q96FD3|Q96FT0|Q96JU0|Q96PN0|Q9BQH5|Q9ULH2	Nonsense_Mutation	SNP	ENST00000556147.1	37	c.827C>G	CCDS9565.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	7.055462|7.055462	0.98032|0.98032	.|.	.|.	ENSG00000165795|ENSG00000165795	ENST00000553593|ENST00000298687;ENST00000350792;ENST00000554770;ENST00000397858;ENST00000554104;ENST00000555158;ENST00000553503;ENST00000397853;ENST00000360463;ENST00000556612;ENST00000556147;ENST00000554143;ENST00000397851;ENST00000397847;ENST00000397855;ENST00000298684;ENST00000403829;ENST00000556008;ENST00000556366;ENST00000556974;ENST00000555026	.|.	.|.	.|.	5.68|5.68	5.68|5.68	0.88126|0.88126	.|.	.|0.119761	.|0.56097	.|D	.|0.000026	T|.	0.77136|.	0.4086|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.79626|.	-0.1725|.	3|.	.|0.87932	.|D	.|0	-8.388|-8.388	17.2897|17.2897	0.87152|0.87152	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	E|X	192|276;262;257;276;189;262;262;276;262;10;276;262;276;265;233;233;272;262;189;262;262	.|.	.|ENSP00000298684:S233X	Q|S	-|-	1|2	0|0	NDRG2|NDRG2	20556490|20556490	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.545000|5.545000	0.67237|0.67237	2.689000|2.689000	0.91719|0.91719	0.655000|0.655000	0.94253|0.94253	CAA|TCA		0.577	NDRG2-013	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000411717.1				8	31	0	0	0	0.00308	0	8	31		
RIPK3	11035	broad.mit.edu	37	14	24808466	24808466	+	Missense_Mutation	SNP	C	C	G	rs376832201		TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr14:24808466C>G	ENST00000216274.5	-	3	444	c.226G>C	c.(226-228)Gaa>Caa	p.E76Q	RIPK3_ENST00000554338.1_5'UTR|RP11-934B9.3_ENST00000555591.1_5'Flank	NM_006871.3	NP_006862.2	Q9Y572	RIPK3_HUMAN	receptor-interacting serine-threonine kinase 3	76	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|amyloid fibril formation (GO:1990000)|apoptotic signaling pathway (GO:0097190)|cellular protein modification process (GO:0006464)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|lymph node development (GO:0048535)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of ligase activity (GO:0051351)|positive regulation of necroptotic process (GO:0060545)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phosphatase activity (GO:0010922)|positive regulation of protein deacetylation (GO:0090312)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of type I interferon production (GO:0032481)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of activated T cell proliferation (GO:0046006)|regulation of activation-induced cell death of T cells (GO:0070235)|regulation of adaptive immune response (GO:0002819)|regulation of CD8-positive, alpha-beta cytotoxic T cell extravasation (GO:2000452)|regulation of interferon-gamma production (GO:0032649)|regulation of T cell mediated cytotoxicity (GO:0001914)|signal transduction (GO:0007165)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|ripoptosome (GO:0097342)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|NF-kappaB-inducing kinase activity (GO:0004704)|protein complex binding (GO:0032403)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription coactivator activity (GO:0003713)			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				GBM - Glioblastoma multiforme(265;0.0181)		ATAACCCCTTCTAGGCGCAGC	0.572																																					Pancreas(58;918 1191 4668 13304 15331)	uc001wpb.2		NaN																	0				central_nervous_system(2)|ovary(1)|lung(1)	4						c.(226-228)GAA>CAA		receptor-interacting serine-threonine kinase 3							99.0	84.0	89.0					14																	24808466		2203	4300	6503	SO:0001583	missense	11035				apoptosis|induction of apoptosis by extracellular signals	cytoplasm	ATP binding|protein binding|transcription coactivator activity	g.chr14:24808466C>G	AF156884	CCDS9628.1	14q12	2006-05-15			ENSG00000129465	ENSG00000129465			10021	protein-coding gene	gene with protein product		605817				10339433, 10358032	Standard	NM_006871		Approved	RIP3	uc001wpb.3	Q9Y572	OTTHUMG00000029349	ENST00000216274.5:c.226G>C	14.37:g.24808466C>G	ENSP00000216274:p.Glu76Gln					RIPK3_uc001wpa.2_5'Flank|RIPK3_uc010alq.2_RNA|RIPK3_uc010toi.1_5'UTR|RIPK3_uc010toj.1_Missense_Mutation_p.E76Q	p.E76Q	NM_006871	NP_006862	Q9Y572	RIPK3_HUMAN		GBM - Glioblastoma multiforme(265;0.0181)	3	436	-			76			Protein kinase.		B4DJL9|C4AM87|Q5J795|Q5J796|Q6P5Y1	Missense_Mutation	SNP	ENST00000216274.5	37	c.226G>C	CCDS9628.1	.	.	.	.	.	.	.	.	.	.	C	13.66	2.302730	0.40795	.	.	ENSG00000129465	ENST00000216274	T	0.62105	0.05	4.69	-0.336	0.12658	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.618782	0.13456	N	0.386539	T	0.42517	0.1206	L	0.28504	0.86	0.19300	N	0.999972	P;P	0.40376	0.553;0.715	B;B	0.39904	0.121;0.313	T	0.37502	-0.9703	10	0.66056	D	0.02	-5.1549	0.8297	0.01128	0.1854:0.1607:0.3371:0.3168	.	76;76	B4DJZ5;Q9Y572	.;RIPK3_HUMAN	Q	76	ENSP00000216274:E76Q	ENSP00000216274:E76Q	E	-	1	0	RIPK3	23878306	0.093000	0.21703	0.193000	0.23327	0.002000	0.02628	0.527000	0.22987	0.037000	0.15575	-1.157000	0.01802	GAA		0.572	RIPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073203.4		NM_006871		22	91	0	0	0	0.016522	0	22	91		
ZFYVE26	23503	broad.mit.edu	37	14	68228128	68228128	+	Silent	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr14:68228128C>T	ENST00000347230.4	-	35	6681	c.6543G>A	c.(6541-6543)gtG>gtA	p.V2181V	ZFYVE26_ENST00000555452.1_Silent_p.V2181V|ZFYVE26_ENST00000557306.1_Silent_p.V27V	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	2181					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		AGCTGTGCCTCACGTAGAAGC	0.517																																						uc001xka.2		NaN																	0				ovary(9)|breast(2)	11						c.(6541-6543)GTG>GTA		zinc finger, FYVE domain containing 26							160.0	123.0	136.0					14																	68228128		2203	4300	6503	SO:0001819	synonymous_variant	23503				cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr14:68228128C>T	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.6543G>A	14.37:g.68228128C>T						ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkb.2_Silent_p.V27V|ZFYVE26_uc001xkc.3_Silent_p.V2181V	p.V2181V	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN		all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)	35	6682	-			2181					B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Silent	SNP	ENST00000347230.4	37	c.6543G>A	CCDS9788.1																																																																																				0.517	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2		NM_015346		6	24	0	0	0	0.021553	0	6	24		
NUMB	8650	broad.mit.edu	37	14	73753886	73753886	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr14:73753886C>G	ENST00000355058.3	-	9	865	c.587G>C	c.(586-588)cGt>cCt	p.R196P	NUMB_ENST00000454166.4_Missense_Mutation_p.R196P|NUMB_ENST00000554546.1_Missense_Mutation_p.R185P|NUMB_ENST00000559312.1_Missense_Mutation_p.R196P|NUMB_ENST00000555238.1_Missense_Mutation_p.R196P|NUMB_ENST00000359560.3_Missense_Mutation_p.R185P|NUMB_ENST00000535282.1_Missense_Mutation_p.R185P|NUMB_ENST00000555738.2_Missense_Mutation_p.R185P|NUMB_ENST00000557597.1_Missense_Mutation_p.R185P|NUMB_ENST00000356296.4_Missense_Mutation_p.R196P|NUMB_ENST00000560335.1_Missense_Mutation_p.R196P|NUMB_ENST00000555394.1_Missense_Mutation_p.R196P|NUMB_ENST00000554521.2_Missense_Mutation_p.R185P|NUMB_ENST00000544991.3_Missense_Mutation_p.R196P|NUMB_ENST00000556772.1_Missense_Mutation_p.R52P			P49757	NUMB_HUMAN	numb homolog (Drosophila)	196					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|lateral ventricle development (GO:0021670)|lung epithelial cell differentiation (GO:0060487)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of protein localization to plasma membrane (GO:1903077)|neuroblast division in subventricular zone (GO:0021849)|Notch signaling pathway (GO:0007219)|positive regulation of cell migration (GO:0030335)|positive regulation of neurogenesis (GO:0050769)|positive regulation of polarized epithelial cell differentiation (GO:0030862)	apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)		TGTTGTGACACGGAATGATCC	0.448																																						uc001xny.1		NaN																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(586-588)CGT>CCT		numb homolog isoform 1							226.0	188.0	201.0					14																	73753886		2203	4300	6503	SO:0001583	missense	8650				axon guidance|lateral ventricle development|neuroblast division in subventricular zone|positive regulation of neurogenesis	integral to plasma membrane		g.chr14:73753886C>G	L40393	CCDS9814.1, CCDS32115.1, CCDS32116.1, CCDS55927.1	14q24.3	2011-11-25	2001-11-28			ENSG00000133961			8060	protein-coding gene	gene with protein product		603728	"""numb (Drosophila) homolog"", ""chromosome 14 open reading frame 41"""	C14orf41			Standard	NM_003744		Approved		uc001xny.1	P49757		ENST00000355058.3:c.587G>C	14.37:g.73753886C>G	ENSP00000347169:p.Arg196Pro					NUMB_uc010aro.1_Missense_Mutation_p.R196P|NUMB_uc010arp.1_Missense_Mutation_p.R185P|NUMB_uc010arq.1_Missense_Mutation_p.R196P|NUMB_uc010arr.1_Missense_Mutation_p.R185P|NUMB_uc001xoa.1_Missense_Mutation_p.R196P|NUMB_uc001xnz.1_Missense_Mutation_p.R185P|NUMB_uc001xob.1_Missense_Mutation_p.R185P|NUMB_uc001xod.1_Missense_Mutation_p.R196P|NUMB_uc001xoc.1_Missense_Mutation_p.R196P|NUMB_uc010ars.1_Missense_Mutation_p.R185P|NUMB_uc001xof.1_Missense_Mutation_p.R160P|NUMB_uc001xog.2_Missense_Mutation_p.R185P|NUMB_uc001xoh.1_Missense_Mutation_p.R185P|NUMB_uc010ttz.1_5'Flank	p.R196P	NM_001005743	NP_001005743	P49757	NUMB_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)	9	907	-			196					B1P2N5|B1P2N6|B1P2N7|B1P2N8|B1P2N9|B4E2B1|Q6NUQ7|Q86SY1|Q8WW73|Q9UBG1|Q9UEQ4|Q9UKE8|Q9UKE9|Q9UKF0|Q9UQJ4	Missense_Mutation	SNP	ENST00000355058.3	37	c.587G>C	CCDS32116.1	.	.	.	.	.	.	.	.	.	.	C	33	5.229736	0.95173	.	.	ENSG00000133961	ENST00000554546;ENST00000356296;ENST00000557597;ENST00000555238;ENST00000556772;ENST00000355058;ENST00000359560;ENST00000555394;ENST00000544991;ENST00000454166;ENST00000555738;ENST00000554521;ENST00000535282;ENST00000326018;ENST00000555859;ENST00000555307;ENST00000554394	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.72835	0.19;0.07;0.61;0.5;0.88;0.5;0.61;0.07;0.01;-0.43;0.01;0.2;0.61;-0.69;-0.69	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.83353	0.5236	L	0.61036	1.89	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0;1.0;0.999;1.0;1.0;0.999;1.0	D;D;D;D;D;D;D;D;D;D;D	0.91635	0.998;0.999;0.998;0.913;0.998;0.993;0.992;0.999;0.999;0.994;0.992	D	0.83970	0.0326	10	0.87932	D	0	-10.9822	19.5916	0.95514	0.0:1.0:0.0:0.0	.	185;196;185;196;196;185;185;185;196;185;196	B1P2N6;B1P2N5;B1P2N8;B1P2N7;G3V3R1;Q86SW5;B2RCI6;P49757-4;P49757-2;P49757-3;P49757	.;.;.;.;.;.;.;.;.;.;NUMB_HUMAN	P	185;196;185;196;52;196;185;196;196;196;185;185;185;160;160;196;196	ENSP00000452416:R185P;ENSP00000348644:R196P;ENSP00000451117:R185P;ENSP00000451300:R196P;ENSP00000451513:R52P;ENSP00000347169:R196P;ENSP00000352563:R185P;ENSP00000451625:R196P;ENSP00000446001:R196P;ENSP00000394025:R196P;ENSP00000452069:R185P;ENSP00000450817:R185P;ENSP00000441258:R185P;ENSP00000452357:R196P;ENSP00000451374:R196P	ENSP00000315193:R160P	R	-	2	0	NUMB	72823639	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.651000	0.83577	2.861000	0.98227	0.655000	0.94253	CGT		0.448	NUMB-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414416.1				14	83	0	0	0	0.028581	0	14	83		
BAG5	9529	broad.mit.edu	37	14	104027261	104027261	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr14:104027261C>G	ENST00000445922.2	-	2	487	c.241G>C	c.(241-243)Gag>Cag	p.E81Q	BAG5_ENST00000299204.4_Missense_Mutation_p.E81Q|APOPT1_ENST00000556253.2_5'Flank|APOPT1_ENST00000247618.4_5'Flank|BAG5_ENST00000337322.4_Missense_Mutation_p.E122Q|APOPT1_ENST00000409074.2_5'Flank|RP11-894P9.2_ENST00000556332.1_RNA|RP11-73M18.2_ENST00000472726.2_5'Flank	NM_004873.3	NP_004864.1	Q9UL15	BAG5_HUMAN	BCL2-associated athanogene 5	81	BAG 1. {ECO:0000255|PROSITE- ProRule:PRU00369}.				negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein refolding (GO:0061084)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|neuron death (GO:0070997)|protein folding (GO:0006457)|regulation of inclusion body assembly (GO:0090083)	inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	chaperone binding (GO:0051087)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)			endometrium(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	24		Melanoma(154;0.155)	Epithelial(46;0.144)			TGCTCCAACTCTTTGAGAAGA	0.428																																					NSCLC(171;1832 2055 18950 31566 41632)	uc001yni.1		NaN																	0				ovary(2)	2						c.(241-243)GAG>CAG		BCL2-associated athanogene 5 isoform b							132.0	128.0	129.0					14																	104027261		2203	4300	6503	SO:0001583	missense	9529				apoptosis|negative regulation of protein refolding|negative regulation of ubiquitin-protein ligase activity|neuron death|protein folding|regulation of inclusion body assembly	inclusion body|perinuclear region of cytoplasm	chaperone binding|ubiquitin protein ligase binding	g.chr14:104027261C>G	AF095195	CCDS9982.1, CCDS41995.1	14q32	2008-08-01				ENSG00000166170			941	protein-coding gene	gene with protein product		603885				9873016, 15603737	Standard	NM_001015048		Approved		uc001ynh.2	Q9UL15		ENST00000445922.2:c.241G>C	14.37:g.104027261C>G	ENSP00000391713:p.Glu81Gln					KLC1_uc010tyd.1_5'Flank|BAG5_uc001ynh.1_Missense_Mutation_p.E122Q|BAG5_uc001ynj.1_Missense_Mutation_p.E81Q|C14orf153_uc001ynl.3_5'Flank|C14orf153_uc010tyc.1_5'Flank	p.E81Q	NM_004873	NP_004864	Q9UL15	BAG5_HUMAN	Epithelial(46;0.144)		2	475	-		Melanoma(154;0.155)	81			BAG 1.		O94950|Q86W59	Missense_Mutation	SNP	ENST00000445922.2	37	c.241G>C	CCDS9982.1	.	.	.	.	.	.	.	.	.	.	C	17.28	3.349547	0.61183	.	.	ENSG00000166170	ENST00000299204;ENST00000445922;ENST00000337322;ENST00000557666	D;D;D;D	0.87809	-2.3;-2.3;-2.3;-2.3	5.76	5.76	0.90799	BAG domain (3);	0.117788	0.56097	D	0.000021	D	0.91253	0.7243	L	0.55481	1.735	0.44352	D	0.997243	D;D	0.64830	0.994;0.993	P;P	0.61658	0.892;0.827	D	0.89143	0.3518	10	0.33940	T	0.23	-33.4763	19.9757	0.97304	0.0:1.0:0.0:0.0	.	81;122	Q9UL15;Q9UL15-2	BAG5_HUMAN;.	Q	81;81;122;81	ENSP00000299204:E81Q;ENSP00000391713:E81Q;ENSP00000338814:E122Q;ENSP00000450497:E81Q	ENSP00000299204:E81Q	E	-	1	0	BAG5	103097014	1.000000	0.71417	0.994000	0.49952	0.986000	0.74619	4.409000	0.59768	2.727000	0.93392	0.655000	0.94253	GAG		0.428	BAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414990.1				24	109	0	0	0	0.008361	0	24	109		
PLCB2	5330	broad.mit.edu	37	15	40594185	40594185	+	Silent	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr15:40594185G>C	ENST00000260402.3	-	7	804	c.555C>G	c.(553-555)ctC>ctG	p.L185L	PLCB2_ENST00000557821.1_Silent_p.L185L|PLCB2_ENST00000543785.2_Silent_p.L185L|PLCB2_ENST00000456256.2_Silent_p.L185L|PLCB2-AS1_ENST00000559520.1_RNA	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	185					activation of phospholipase C activity (GO:0007202)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|sensory perception of bitter taste (GO:0050913)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		GGCAGGCACTGAGAGCAGCTT	0.567																																						uc001zld.2		NaN																	0				ovary(3)|breast(3)|kidney(1)|pancreas(1)	8						c.(553-555)CTC>CTG		phospholipase C, beta 2							46.0	50.0	49.0					15																	40594185		2018	4186	6204	SO:0001819	synonymous_variant	5330				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr15:40594185G>C		CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	15q15.1	2012-01-23			ENSG00000137841	ENSG00000137841	3.1.4.11		9055	protein-coding gene	gene with protein product		604114				1644792, 9925923	Standard	XM_005254448		Approved	FLJ38135	uc001zld.3	Q00722	OTTHUMG00000172412	ENST00000260402.3:c.555C>G	15.37:g.40594185G>C						PLCB2_uc010bbo.2_Silent_p.L185L|PLCB2_uc010ucm.1_Silent_p.L185L|PLCB2_uc001zle.3_Silent_p.L185L	p.L185L	NM_004573	NP_004564	Q00722	PLCB2_HUMAN		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)	7	856	-		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	185					A8K6J2|B9EGH5	Silent	SNP	ENST00000260402.3	37	c.555C>G	CCDS42020.1																																																																																				0.567	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418430.1				15	62	0	0	0	0.020292	0	15	62		
INO80	54617	broad.mit.edu	37	15	41388442	41388442	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr15:41388442G>A	ENST00000361937.3	-	2	491	c.67C>T	c.(67-69)Cag>Tag	p.Q23*	INO80_ENST00000401393.3_Nonsense_Mutation_p.Q23*			Q9ULG1	INO80_HUMAN	INO80 complex subunit	23	Assembles INO80 complex module with putative regulatory components INO80E, INO80F, UCHL5, NFRKB, MCRS1 and IN80D.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TCCAAGTACTGAAGATAGAGG	0.483																																						uc001zni.2		NaN																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(67-69)CAG>TAG		INO80 complex homolog 1							52.0	48.0	49.0					15																	41388442		2203	4300	6503	SO:0001587	stop_gained	54617				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity	g.chr15:41388442G>A	AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"""INO80 complex subunits"""	26956	protein-coding gene	gene with protein product	"""INO80 complex subunit A"""	610169	"""INO80 complex homolog 1 (S. cerevisiae)"", ""INO80 homolog (S. cerevisiae)"""	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.67C>T	15.37:g.41388442G>A	ENSP00000355205:p.Gln23*					INO80_uc010ucu.1_RNA	p.Q23*	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN			2	280	-			23			Assembles INO80 complex module with putative regulatory components INO80E, INO80F, UCHL5, NFRKB, MCRS1 and IN80D.		A6H8X4|Q9NTG6	Nonsense_Mutation	SNP	ENST00000361937.3	37	c.67C>T	CCDS10071.1	.	.	.	.	.	.	.	.	.	.	G	37	6.626188	0.97718	.	.	ENSG00000128908	ENST00000361937;ENST00000401393	.	.	.	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	20.2723	0.98479	0.0:0.0:1.0:0.0	.	.	.	.	X	23	.	ENSP00000355205:Q23X	Q	-	1	0	INO80	39175734	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.434000	0.97515	2.793000	0.96121	0.563000	0.77884	CAG		0.483	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252527.2		NM_017553		5	51	0	0	0	0.021553	0	5	51		
TLN2	83660	broad.mit.edu	37	15	62993399	62993399	+	Missense_Mutation	SNP	T	T	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr15:62993399T>G	ENST00000561311.1	+	16	1912	c.1682T>G	c.(1681-1683)gTt>gGt	p.V561G	TLN2_ENST00000306829.6_Missense_Mutation_p.V561G			Q9Y4G6	TLN2_HUMAN	talin 2	561					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GCTTCAGTTGTTAACCTCACA	0.403																																						uc002alb.3		NaN																	0				ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11						c.(1681-1683)GTT>GGT		talin 2							76.0	66.0	69.0					15																	62993399		2203	4300	6503	SO:0001583	missense	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:62993399T>G	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.1682T>G	15.37:g.62993399T>G	ENSP00000453508:p.Val561Gly						p.V561G	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN			14	1682	+			561					A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	c.1682T>G	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.987380	0.74589	.	.	ENSG00000171914	ENST00000306829	T	0.73258	-0.73	5.52	5.52	0.82312	Talin, central (3);	0.000000	0.85682	D	0.000000	D	0.84642	0.5517	M	0.79926	2.475	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.86917	0.2064	10	0.87932	D	0	-26.0473	15.9441	0.79779	0.0:0.0:0.0:1.0	.	561	Q9Y4G6	TLN2_HUMAN	G	561	ENSP00000303476:V561G	ENSP00000303476:V561G	V	+	2	0	TLN2	60780691	1.000000	0.71417	1.000000	0.80357	0.531000	0.34715	7.997000	0.88414	2.225000	0.72522	0.460000	0.39030	GTT		0.403	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2				5	43	0	0	0	0.014758	0	5	43		
MYO9A	4649	broad.mit.edu	37	15	72186022	72186022	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr15:72186022C>G	ENST00000356056.5	-	26	5612	c.5140G>C	c.(5140-5142)Gag>Cag	p.E1714Q	MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000424560.1_Missense_Mutation_p.E1714Q|MYO9A_ENST00000444904.1_Missense_Mutation_p.E1695Q|MYO9A_ENST00000564571.1_Missense_Mutation_p.E1714Q	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1714	Tail.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						AAACTTACCTCTCTTTGGCCT	0.368																																						uc002atl.3		NaN																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(5140-5142)GAG>CAG		myosin IXA							102.0	97.0	99.0					15																	72186022		2199	4297	6496	SO:0001583	missense	4649				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	g.chr15:72186022C>G	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.5140G>C	15.37:g.72186022C>G	ENSP00000348349:p.Glu1714Gln					MYO9A_uc002atn.1_Missense_Mutation_p.E1695Q|MYO9A_uc002atk.2_Missense_Mutation_p.E438Q|MYO9A_uc002atm.1_Missense_Mutation_p.E438Q	p.E1714Q	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN			26	5613	-			1714			Tail.		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	c.5140G>C	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	C	19.09	3.759050	0.69763	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904	D;D;D	0.86230	-1.94;-2.09;-1.93	5.62	5.62	0.85841	.	.	.	.	.	T	0.82006	0.4943	L	0.34521	1.04	0.40594	D	0.981513	P;B	0.37370	0.592;0.008	B;B	0.39217	0.294;0.004	T	0.79145	-0.1924	9	0.11794	T	0.64	.	17.8397	0.88712	0.0:1.0:0.0:0.0	.	1714;1714	B2RTY4-4;B2RTY4	.;MYO9A_HUMAN	Q	1714;1714;1695	ENSP00000348349:E1714Q;ENSP00000399162:E1714Q;ENSP00000398250:E1695Q	ENSP00000348349:E1714Q	E	-	1	0	MYO9A	69973076	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.616000	0.61197	2.631000	0.89168	0.650000	0.86243	GAG		0.368	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1		NM_006901		7	34	0	0	0	0.001984	0	7	34		
SENP8	123228	broad.mit.edu	37	15	72432366	72432366	+	Missense_Mutation	SNP	G	G	C	rs371015308		TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr15:72432366G>C	ENST00000542035.2	+	2	735	c.402G>C	c.(400-402)gaG>gaC	p.E134D	RP11-2I17.4_ENST00000568984.1_RNA|SENP8_ENST00000544411.1_Missense_Mutation_p.E134D|SENP8_ENST00000340912.4_Missense_Mutation_p.E134D|SENP8_ENST00000544171.1_Missense_Mutation_p.E134D	NM_001166340.1	NP_001159812.1	Q96LD8	SENP8_HUMAN	SUMO/sentrin specific peptidase family member 8	134	Protease.						cysteine-type peptidase activity (GO:0008234)			breast(1)|kidney(2)|lung(1)|ovary(1)|skin(1)	6						AGGTAGCAGAGAAACTGGAGG	0.453																																						uc002atp.2		NaN																	0				ovary(1)|skin(1)	2						c.(400-402)GAG>GAC		SUMO/sentrin specific peptidase family member 8							69.0	71.0	70.0					15																	72432366		2199	4297	6496	SO:0001583	missense	123228				proteolysis		cysteine-type peptidase activity|protein binding	g.chr15:72432366G>C	BC031411	CCDS10240.1	15q22.33	2005-08-17	2005-08-17	2004-01-30	ENSG00000166192	ENSG00000166192			22992	protein-coding gene	gene with protein product	"""NEDD8-specific protease 1"", ""sentrin/SUMO-specific protease SENP8"", ""deneddylase 1"""	608659	"""protease, cysteine, 2 (NEDD8 specific)"", ""SUMO/sentrin specific protease family member 8"""	PRSC2		12730221, 12759362	Standard	NM_145204		Approved	NEDP1, DEN1, HsT17512	uc021spt.1	Q96LD8	OTTHUMG00000133441	ENST00000542035.2:c.402G>C	15.37:g.72432366G>C	ENSP00000446057:p.Glu134Asp						p.E134D	NM_145204	NP_660205	Q96LD8	SENP8_HUMAN			2	501	+			134			Protease.		Q96QA4	Missense_Mutation	SNP	ENST00000542035.2	37	c.402G>C	CCDS10240.1	.	.	.	.	.	.	.	.	.	.	G	1.938	-0.444196	0.04604	.	.	ENSG00000166192	ENST00000542035;ENST00000544411;ENST00000340912;ENST00000544171	T;T;T;T	0.27890	1.64;1.64;1.64;1.64	5.86	2.95	0.34219	.	0.551994	0.20007	N	0.101212	T	0.18383	0.0441	N	0.25332	0.735	0.42647	D	0.993436	B	0.02656	0.0	B	0.01281	0.0	T	0.07520	-1.0768	10	0.18710	T	0.47	-5.2596	7.9664	0.30102	0.0639:0.1188:0.6938:0.1236	.	134	Q96LD8	SENP8_HUMAN	D	134	ENSP00000446057:E134D;ENSP00000441753:E134D;ENSP00000340505:E134D;ENSP00000439415:E134D	ENSP00000340505:E134D	E	+	3	2	SENP8	70219420	1.000000	0.71417	0.994000	0.49952	0.046000	0.14306	3.202000	0.51067	0.374000	0.24650	-0.760000	0.03462	GAG		0.453	SENP8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420036.1		NM_145204		11	74	0	0	0	0.010729	0	11	74		
MCTP2	55784	broad.mit.edu	37	15	94857556	94857556	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr15:94857556C>T	ENST00000357742.4	+	2	511	c.511C>T	c.(511-513)Cat>Tat	p.H171Y	MCTP2_ENST00000543482.1_Missense_Mutation_p.H171Y|MCTP2_ENST00000331706.4_5'UTR|MCTP2_ENST00000451018.3_Missense_Mutation_p.H171Y	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	171					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			GACATCTCAACATTTTGAAGA	0.318																																						uc002btj.2		NaN																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(511-513)CAT>TAT		multiple C2 domains, transmembrane 2 isoform 1							78.0	75.0	76.0					15																	94857556		2197	4298	6495	SO:0001583	missense	55784				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	g.chr15:94857556C>T	AK002037	CCDS32338.1, CCDS53975.1, CCDS53976.1	15q26.2	2006-02-08				ENSG00000140563			25636	protein-coding gene	gene with protein product						15528213	Standard	NM_018349		Approved	FLJ11175, FLJ33303	uc002btj.3	Q6DN12		ENST00000357742.4:c.511C>T	15.37:g.94857556C>T	ENSP00000350377:p.His171Tyr					MCTP2_uc010urg.1_Missense_Mutation_p.H171Y|MCTP2_uc002bti.2_Missense_Mutation_p.H171Y|MCTP2_uc010boj.2_5'UTR|MCTP2_uc010bok.2_Missense_Mutation_p.H171Y|MCTP2_uc002btg.3_Missense_Mutation_p.H171Y|MCTP2_uc002bth.3_Missense_Mutation_p.H171Y	p.H171Y	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)		2	576	+	Lung NSC(78;0.0821)|all_lung(78;0.148)		171					A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Missense_Mutation	SNP	ENST00000357742.4	37	c.511C>T	CCDS32338.1	.	.	.	.	.	.	.	.	.	.	C	1.032	-0.681612	0.03353	.	.	ENSG00000140563	ENST00000543482;ENST00000556363;ENST00000451018;ENST00000357742	T;T;T	0.70164	-0.46;-0.21;-0.06	5.16	4.22	0.49857	C2 calcium/lipid-binding domain, CaLB (1);	1.146320	0.06268	N	0.695085	T	0.46541	0.1398	N	0.14661	0.345	0.26378	N	0.97678	B;B;B;B;B	0.31790	0.168;0.011;0.031;0.105;0.34	B;B;B;B;B	0.28709	0.036;0.036;0.016;0.026;0.093	T	0.16719	-1.0393	10	0.02654	T	1	.	10.8605	0.46823	0.2071:0.7929:0.0:0.0	.	171;171;171;171;171	F5H415;Q6DN12-2;Q6DN12;B7Z6H2;G3V2J2	.;.;MCTP2_HUMAN;.;.	Y	171	ENSP00000438521:H171Y;ENSP00000395109:H171Y;ENSP00000350377:H171Y	ENSP00000350377:H171Y	H	+	1	0	MCTP2	92658560	0.001000	0.12720	0.006000	0.13384	0.277000	0.26821	1.092000	0.30927	1.239000	0.43787	0.655000	0.94253	CAT		0.318	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415060.3		NM_018349		4	21	0	0	0	0.009096	0	4	21		
CHSY1	22856	broad.mit.edu	37	15	101718791	101718791	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr15:101718791G>A	ENST00000254190.3	-	3	1686	c.1211C>T	c.(1210-1212)gCc>gTc	p.A404V	CHSY1_ENST00000543813.1_5'UTR	NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	404					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of ossification (GO:0030279)|response to nutrient levels (GO:0031667)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GTCGTCCAAGGCTTCCCTCTG	0.532																																						uc002bwt.1		NaN																	0					0						c.(1210-1212)GCC>GTC		chondroitin sulfate synthase 1							80.0	80.0	80.0					15																	101718791		2203	4300	6503	SO:0001583	missense	22856				chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	g.chr15:101718791G>A	AB023207	CCDS10390.1	15q26.3	2013-02-19	2008-01-24	2008-01-24	ENSG00000131873	ENSG00000131873	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	17198	protein-coding gene	gene with protein product		608183	"""carbohydrate (chondroitin) synthase 1"""			11514575	Standard	NM_014918		Approved	KIAA0990, CSS1	uc021sxt.1	Q86X52	OTTHUMG00000149873	ENST00000254190.3:c.1211C>T	15.37:g.101718791G>A	ENSP00000254190:p.Ala404Val					CHSY1_uc010usd.1_Missense_Mutation_p.A132V	p.A404V	NM_014918	NP_055733	Q86X52	CHSS1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		4	1694	-	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		404			Lumenal (Potential).		Q6UX38|Q7LFU5|Q9Y2J5	Missense_Mutation	SNP	ENST00000254190.3	37	c.1211C>T	CCDS10390.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.044727	0.75732	.	.	ENSG00000131873	ENST00000254190;ENST00000543813	T	0.16324	2.35	5.46	4.55	0.56014	.	0.000000	0.85682	D	0.000000	T	0.23451	0.0567	L	0.60455	1.87	0.80722	D	1	B	0.29341	0.242	B	0.37198	0.243	T	0.02560	-1.1141	10	0.37606	T	0.19	-49.8111	14.3307	0.66553	0.0714:0.0:0.9286:0.0	.	404	Q86X52	CHSS1_HUMAN	V	404;132	ENSP00000254190:A404V	ENSP00000254190:A404V	A	-	2	0	CHSY1	99536314	1.000000	0.71417	0.973000	0.42090	0.934000	0.57294	9.622000	0.98378	1.303000	0.44873	0.655000	0.94253	GCC		0.532	CHSY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313624.1		NM_014918		19	91	0	0	0	0.007413	0	19	91		
ALG1	56052	broad.mit.edu	37	16	5123174	5123174	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr16:5123174T>C	ENST00000262374.5	+	3	338	c.307T>C	c.(307-309)Tac>Cac	p.Y103H	ALG1_ENST00000588623.1_5'UTR|ALG1_ENST00000544428.1_5'UTR	NM_019109.4	NP_061982.3	Q9BT22	ALG1_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	103					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipopolysaccharide biosynthetic process (GO:0009103)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	chitobiosyldiphosphodolichol beta-mannosyltransferase activity (GO:0004578)|mannosyltransferase activity (GO:0000030)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(90;0.0164)				AGTTTTCCAGTACGGAGTCAA	0.517																																						uc002cym.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(307-309)TAC>CAC		beta-1,4-mannosyltransferase							202.0	189.0	193.0					16																	5123174		2197	4300	6497	SO:0001583	missense	56052				dolichol-linked oligosaccharide biosynthetic process|lipopolysaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	chitobiosyldiphosphodolichol beta-mannosyltransferase activity	g.chr16:5123174T>C	AB019038	CCDS10528.1	16p13.3	2013-02-22	2013-02-22		ENSG00000033011	ENSG00000033011	2.4.1.142	"""Glycosyltransferase group 1 domain containing"""	18294	protein-coding gene	gene with protein product		605907	"""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase)"", ""asparagine-linked glycosylation 1, beta-1,4-mannosyltransferase homolog (S. cerevisiae)"""			10704531	Standard	NM_019109		Approved	HMT-1, HMAT1	uc002cym.3	Q9BT22	OTTHUMG00000129529	ENST00000262374.5:c.307T>C	16.37:g.5123174T>C	ENSP00000262374:p.Tyr103His					ALG1_uc002cyj.2_5'UTR|ALG1_uc002cyn.2_Missense_Mutation_p.Y103H|ALG1_uc010bue.2_5'UTR|ALG1_uc010uxy.1_5'UTR	p.Y103H	NM_019109	NP_061982	Q9BT22	ALG1_HUMAN			3	348	+		Ovarian(90;0.0164)	103			Lumenal (Potential).		B4DP08|Q6UVZ9|Q8N5Y4|Q9P2Y2	Missense_Mutation	SNP	ENST00000262374.5	37	c.307T>C	CCDS10528.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.384792	0.82792	.	.	ENSG00000033011	ENST00000262374	D	0.85955	-2.05	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	D	0.92388	0.7584	M	0.88377	2.95	0.80722	D	1	D	0.65815	0.995	D	0.68039	0.955	D	0.92522	0.6026	10	0.41790	T	0.15	-16.1572	13.0052	0.58701	0.0:0.0:0.0:1.0	.	103	Q9BT22	ALG1_HUMAN	H	103	ENSP00000262374:Y103H	ENSP00000262374:Y103H	Y	+	1	0	ALG1	5063175	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	6.405000	0.73272	2.003000	0.58678	0.459000	0.35465	TAC		0.517	ALG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251716.2		NM_019109		15	50	0	0	0	0.028581	0	15	50		
PLCG2	5336	broad.mit.edu	37	16	81888168	81888168	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr16:81888168G>A	ENST00000359376.3	+	3	527	c.313G>A	c.(313-315)Gtc>Atc	p.V105I	PLCG2_ENST00000565400.1_3'UTR	NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	105	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						CACTCAGTTCGTCCTCAGCAC	0.498																																						uc002fgt.2		NaN																	0				large_intestine(4)|lung(2)|ovary(1)|skin(1)	8						c.(313-315)GTC>ATC		phospholipase C, gamma 2							166.0	175.0	172.0					16																	81888168		2130	4239	6369	SO:0001583	missense	5336				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr16:81888168G>A		CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"""SH2 domain containing"""	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.313G>A	16.37:g.81888168G>A	ENSP00000352336:p.Val105Ile					PLCG2_uc010chg.1_Missense_Mutation_p.V105I	p.V105I	NM_002661	NP_002652	P16885	PLCG2_HUMAN			3	465	+			105			PH.		D3DUL3|Q3ZTS2|Q59H45|Q969T5	Missense_Mutation	SNP	ENST00000359376.3	37	c.313G>A	CCDS42204.1	.	.	.	.	.	.	.	.	.	.	G	13.97	2.397194	0.42512	.	.	ENSG00000197943	ENST00000359376	T	0.66995	-0.24	5.78	4.83	0.62350	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.58366	0.2117	L	0.51422	1.61	0.58432	D	0.999991	P	0.35714	0.517	B	0.28553	0.091	T	0.62020	-0.6942	10	0.56958	D	0.05	.	13.7949	0.63164	0.0749:0.0:0.9251:0.0	.	105	P16885	PLCG2_HUMAN	I	105	ENSP00000352336:V105I	ENSP00000352336:V105I	V	+	1	0	PLCG2	80445669	1.000000	0.71417	0.964000	0.40570	0.130000	0.20726	5.777000	0.68931	1.459000	0.47892	0.563000	0.77884	GTC		0.498	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1				35	121	0	0	0	0.023175	0	35	121		
ATP1B2	482	broad.mit.edu	37	17	7557218	7557218	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr17:7557218G>A	ENST00000250111.4	+	3	708	c.301G>A	c.(301-303)Gaa>Aaa	p.E101K		NM_001678.3	NP_001669.3	P14415	AT1B2_HUMAN	ATPase, Na+/K+ transporting, beta 2 polypeptide	101					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|leukocyte migration (GO:0050900)|membrane repolarization (GO:0086009)|positive regulation of ATP catabolic process (GO:1903291)|positive regulation of ATPase activity (GO:0032781)|positive regulation of potassium ion import (GO:1903288)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of sodium ion export from cell (GO:1903278)|potassium ion import (GO:0010107)|protein stabilization (GO:0050821)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|sodium:potassium-exchanging ATPase activity (GO:0005391)	p.0?(2)|p.?(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|pancreas(1)	10		all_cancers(10;0.000178)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;2.55e-06)|READ - Rectum adenocarcinoma(115;0.168)		CAGTGACACTGAAAGCTGGGA	0.498																																						uc002gif.1		NaN																	3	Whole gene deletion(2)|Unknown(1)	p.0?(2)|p.?(1)	haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|bone(1)	central_nervous_system(1)|pancreas(1)	2						c.(301-303)GAA>AAA		Na+/K+ -ATPase beta 2 subunit							150.0	126.0	134.0					17																	7557218		2203	4300	6503	SO:0001583	missense	482				ATP biosynthetic process|blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|sodium:potassium-exchanging ATPase activity	g.chr17:7557218G>A	U45945	CCDS32550.1	17p13.1	2012-10-22			ENSG00000129244	ENSG00000129244	3.6.3.9	"""ATPases / P-type"""	805	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit beta-2"", ""sodium pump subunit beta-2"", ""sodium-potassium ATPase subunit beta 2 (non-catalytic)"""	182331				1699290	Standard	NM_001678		Approved	AMOG	uc002gif.1	P14415		ENST00000250111.4:c.301G>A	17.37:g.7557218G>A	ENSP00000250111:p.Glu101Lys						p.E101K	NM_001678	NP_001669	P14415	AT1B2_HUMAN		GBM - Glioblastoma multiforme(2;2.55e-06)|READ - Rectum adenocarcinoma(115;0.168)	3	884	+		all_cancers(10;0.000178)|Prostate(122;0.081)	101			Extracellular (Potential).		A0AV17|A8K278|D3DTQ2|O60444	Missense_Mutation	SNP	ENST00000250111.4	37	c.301G>A	CCDS32550.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.696421	0.48202	.	.	ENSG00000129244	ENST00000250111	T	0.28069	1.63	5.18	4.14	0.48551	.	0.258492	0.38326	N	0.001724	T	0.17959	0.0431	N	0.17800	0.525	0.45097	D	0.998115	P	0.36683	0.565	B	0.37015	0.239	T	0.04017	-1.0984	10	0.18710	T	0.47	-10.9806	9.3741	0.38272	0.0:0.1618:0.6907:0.1474	.	101	P14415	AT1B2_HUMAN	K	101	ENSP00000250111:E101K	ENSP00000250111:E101K	E	+	1	0	ATP1B2	7497943	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.860000	0.55995	2.412000	0.81896	0.561000	0.74099	GAA		0.498	ATP1B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440234.1		NM_001678		19	84	0	0	0	0.006122	0	19	84		
TP53	7157	broad.mit.edu	37	17	7577082	7577082	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr17:7577082C>A	ENST00000269305.4	-	8	1045	c.856G>T	c.(856-858)Gaa>Taa	p.E286*	TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Nonsense_Mutation_p.E286*|TP53_ENST00000445888.2_Nonsense_Mutation_p.E286*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E286*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E286*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	286	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		E -> A (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:11023613, ECO:0000269|PubMed:8316628}.|E -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:8829627}.|E -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.E286K(58)|p.E286*(22)|p.0?(8)|p.E286Q(5)|p.?(2)|p.E286fs*59(2)|p.E286fs*17(2)|p.R283fs*16(2)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.R283fs*56(1)|p.E285fs*13(1)|p.G279fs*59(1)|p.R283fs*59(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AGATTCTCTTCCTCTGTGCGC	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		112	Substitution - Missense(63)|Substitution - Nonsense(22)|Deletion - Frameshift(11)|Whole gene deletion(8)|Deletion - In frame(6)|Unknown(2)	p.E286K(52)|p.E286*(14)|p.E286G(14)|p.0?(7)|p.E286V(6)|p.E286Q(5)|p.?(2)|p.E286D(2)|p.E286E(2)|p.R283fs*16(2)|p.E286fs*59(2)|p.E286fs*17(2)|p.E285_N288delEEEN(1)|p.R282_E287delRRTEEE(1)|p.T284_G293del10(1)|p.G279fs*59(1)|p.E285fs*13(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.R283fs*56(1)|p.E286A(1)|p.V272_K292del21(1)|p.R283fs*59(1)|p.E285_L289delEEENL(1)	lung(18)|upper_aerodigestive_tract(13)|breast(10)|large_intestine(9)|urinary_tract(9)|skin(9)|oesophagus(9)|haematopoietic_and_lymphoid_tissue(8)|liver(7)|central_nervous_system(6)|bone(4)|ovary(3)|stomach(2)|vulva(1)|soft_tissue(1)|eye(1)|biliary_tract(1)|endometrium(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM076567	TP53	M		c.(856-858)GAA>TAA	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							95.0	81.0	86.0					17																	7577082		2203	4300	6503	SO:0001587	stop_gained	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577082C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.856G>T	17.37:g.7577082C>A	ENSP00000269305:p.Glu286*	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.2_Nonsense_Mutation_p.E286*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.E154*|TP53_uc010cng.1_Nonsense_Mutation_p.E154*|TP53_uc002gii.1_Nonsense_Mutation_p.E154*|TP53_uc010cnh.1_Nonsense_Mutation_p.E286*|TP53_uc010cni.1_Nonsense_Mutation_p.E286*|TP53_uc002gij.2_Nonsense_Mutation_p.E286*	p.E286*	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1050	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	286		E -> V (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> G (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> A (in LFS; germline mutation and in sporadic cancers; somatic mutation).	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.856G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	31	5.072281	0.93950	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-23.2961	15.807	0.78520	0.0:1.0:0.0:0.0	.	.	.	.	X	286;286;286;286;286;275;154	.	ENSP00000269305:E286X	E	-	1	0	TP53	7517807	1.000000	0.71417	0.972000	0.41901	0.455000	0.32408	7.587000	0.82613	2.579000	0.87056	0.462000	0.41574	GAA		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1		NM_000546		19	53	1	0	6.94344e-10	0.006122	7.25128e-10	19	53		
TP53	7157	broad.mit.edu	37	17	7578534	7578534	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr17:7578534C>G	ENST00000269305.4	-	5	585	c.396G>C	c.(394-396)aaG>aaC	p.K132N	TP53_ENST00000413465.2_Missense_Mutation_p.K132N|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.K132N|TP53_ENST00000445888.2_Missense_Mutation_p.K132N|TP53_ENST00000359597.4_Missense_Mutation_p.K132N|TP53_ENST00000455263.2_Missense_Mutation_p.K132N	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	132	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		K -> E (in LFS; germline mutation and in sporadic cancers; somatic mutation).|K -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> M (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1694291}.|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).|K -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|KM -> NL (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.K132N(49)|p.0?(8)|p.Y126_K132delYSPALNK(6)|p.K39N(2)|p.N131fs*27(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.A129_K132delALNK(1)|p.Y126fs*11(1)|p.K132K(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.L130_M133delLNKM(1)|p.M133fs*37(1)|p.M133fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGCAAAACATCTTGTTGAGGG	0.562		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		77	Substitution - Missense(51)|Deletion - In frame(10)|Whole gene deletion(8)|Deletion - Frameshift(6)|Insertion - Frameshift(1)|Substitution - coding silent(1)	p.K132N(40)|p.K132R(32)|p.K132E(19)|p.K132Q(13)|p.K132M(9)|p.0?(7)|p.Y126_K132delYSPALNK(6)|p.K132T(4)|p.K132*(2)|p.N131fs*27(2)|p.K132fs*38(2)|p.Y126fs*11(1)|p.S127_Q136del10(1)|p.M133fs*16(1)|p.V73fs*9(1)|p.A129_K132delALNK(1)|p.L130_M133delLNKM(1)|p.M133fs*37(1)|p.K132_A138delKMFCQLA(1)|p.S127fs*36(1)|p.K132K(1)|p.K132W(1)	urinary_tract(13)|breast(10)|ovary(10)|lung(9)|large_intestine(8)|haematopoietic_and_lymphoid_tissue(6)|central_nervous_system(4)|bone(4)|adrenal_gland(3)|upper_aerodigestive_tract(2)|skin(2)|liver(2)|stomach(1)|penis(1)|oesophagus(1)|pancreas(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(394-396)AAG>AAC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							47.0	48.0	48.0					17																	7578534		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578534C>G	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.396G>C	17.37:g.7578534C>G	ENSP00000269305:p.Lys132Asn	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.K132N|TP53_uc002gih.2_Missense_Mutation_p.K132N|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'UTR|TP53_uc010cng.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cnh.1_Missense_Mutation_p.K132N|TP53_uc010cni.1_Missense_Mutation_p.K132N|TP53_uc002gij.2_Missense_Mutation_p.K132N|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.K39N|TP53_uc002gio.2_5'UTR|TP53_uc010vug.1_Missense_Mutation_p.K93N	p.K132N	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	590	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	132		K -> T (in sporadic cancers; somatic mutation).|KM -> NL (in a sporadic cancer; somatic mutation).|K -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> R (in sporadic cancers; somatic mutation).|K -> M (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> Q (in sporadic cancers; somatic mutation).|K -> E (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.396G>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.123172	0.77436	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793	D;D;D;D;D;D;D;D	0.99859	-7.23;-7.23;-7.23;-7.23;-7.23;-7.23;-7.23;-7.23	5.48	3.5	0.40072	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99857	0.9933	M	0.91768	3.24	0.58432	D	0.999999	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.998;0.998;0.993;0.996;0.999;0.998;1.0	D	0.97328	0.9948	10	0.87932	D	0	-14.0777	10.5581	0.45129	0.0:0.841:0.0:0.159	.	93;132;132;39;132;132;132	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	N	132;132;132;132;132;132;121;39;39;132	ENSP00000410739:K132N;ENSP00000352610:K132N;ENSP00000269305:K132N;ENSP00000398846:K132N;ENSP00000391127:K132N;ENSP00000391478:K132N;ENSP00000423862:K39N;ENSP00000424104:K132N	ENSP00000269305:K132N	K	-	3	2	TP53	7519259	1.000000	0.71417	0.994000	0.49952	0.784000	0.44337	1.646000	0.37249	0.804000	0.34136	0.655000	0.94253	AAG		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1		NM_000546		11	54	0	0	0	0.013537	0	11	54		
ARHGAP44	9912	broad.mit.edu	37	17	12819241	12819241	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr17:12819241G>C	ENST00000379672.5	+	5	600	c.300G>C	c.(298-300)gaG>gaC	p.E100D	MIR1269B_ENST00000580405.1_RNA|ARHGAP44_ENST00000262444.9_Missense_Mutation_p.E100D|ARHGAP44_ENST00000340825.3_Missense_Mutation_p.E100D	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	100	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				exocytosis (GO:0006887)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endosome (GO:0005768)|leading edge membrane (GO:0031256)|synapse (GO:0045202)	GTPase activator activity (GO:0005096)|phospholipid binding (GO:0005543)			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						TCTGTGGAGAGACGGAGGACA	0.493																																						uc002gnr.3		NaN																	0					0						c.(298-300)GAG>GAC		Rho GTPase-activating protein RICH2							85.0	84.0	84.0					17																	12819241		2027	4187	6214	SO:0001583	missense	9912				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr17:12819241G>C		CCDS45616.1	17p12	2011-06-29			ENSG00000006740	ENSG00000006740		"""Rho GTPase activating proteins"""	29096	protein-coding gene	gene with protein product						19273615	Standard	NM_014859		Approved	KIAA0672, RICH-2, RICH2	uc002gnr.4	Q17R89	OTTHUMG00000058765	ENST00000379672.5:c.300G>C	17.37:g.12819241G>C	ENSP00000368994:p.Glu100Asp					RICH2_uc010vvk.1_Missense_Mutation_p.E100D|RICH2_uc010vvl.1_Missense_Mutation_p.E100D|RICH2_uc002gns.3_5'UTR|RICH2_uc010vvm.1_Missense_Mutation_p.E100D|RICH2_uc010vvn.1_RNA	p.E100D	NM_014859	NP_055674	Q17R89	RHG44_HUMAN			5	627	+			100			BAR.		A6NCP5|A8MQB2|O75160|Q7Z5Z7|Q9Y4Q4	Missense_Mutation	SNP	ENST00000379672.5	37	c.300G>C	CCDS45616.1	.	.	.	.	.	.	.	.	.	.	G	12.48	1.949430	0.34377	.	.	ENSG00000006740	ENST00000379672;ENST00000340825	T;T	0.67865	-0.29;-0.29	5.92	2.36	0.29203	BAR (3);	0.057947	0.64402	D	0.000002	T	0.41119	0.1145	N	0.12182	0.205	0.47245	D	0.99936	B;B	0.20550	0.046;0.031	B;B	0.24155	0.04;0.051	T	0.10965	-1.0607	10	0.09590	T	0.72	.	7.6182	0.28171	0.1657:0.0:0.6946:0.1397	.	100;100	A6NCP5;Q17R89	.;RHG44_HUMAN	D	100	ENSP00000368994:E100D;ENSP00000342566:E100D	ENSP00000342566:E100D	E	+	3	2	ARHGAP44	12759966	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.573000	0.23699	0.826000	0.34661	0.655000	0.94253	GAG		0.493	ARHGAP44-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441566.1		NM_014859		12	27	0	0	0	0.013537	0	12	27		
ARHGAP44	9912	broad.mit.edu	37	17	12819326	12819326	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr17:12819326G>A	ENST00000379672.5	+	5	685	c.385G>A	c.(385-387)Gag>Aag	p.E129K	MIR1269B_ENST00000580405.1_RNA|ARHGAP44_ENST00000262444.9_Missense_Mutation_p.E129K|ARHGAP44_ENST00000340825.3_Missense_Mutation_p.E129K	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	129	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				exocytosis (GO:0006887)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endosome (GO:0005768)|leading edge membrane (GO:0031256)|synapse (GO:0045202)	GTPase activator activity (GO:0005096)|phospholipid binding (GO:0005543)			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						TTTGCTGGCGGAGGTAAGCAG	0.512																																						uc002gnr.3		NaN																	0					0						c.(385-387)GAG>AAG		Rho GTPase-activating protein RICH2							74.0	74.0	74.0					17																	12819326		2077	4212	6289	SO:0001583	missense	9912				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr17:12819326G>A		CCDS45616.1	17p12	2011-06-29			ENSG00000006740	ENSG00000006740		"""Rho GTPase activating proteins"""	29096	protein-coding gene	gene with protein product						19273615	Standard	NM_014859		Approved	KIAA0672, RICH-2, RICH2	uc002gnr.4	Q17R89	OTTHUMG00000058765	ENST00000379672.5:c.385G>A	17.37:g.12819326G>A	ENSP00000368994:p.Glu129Lys					RICH2_uc010vvk.1_Missense_Mutation_p.E129K|RICH2_uc010vvl.1_Missense_Mutation_p.E129K|RICH2_uc002gns.3_5'UTR|RICH2_uc010vvm.1_Missense_Mutation_p.E129K|RICH2_uc010vvn.1_RNA	p.E129K	NM_014859	NP_055674	Q17R89	RHG44_HUMAN			5	712	+			129			BAR.		A6NCP5|A8MQB2|O75160|Q7Z5Z7|Q9Y4Q4	Missense_Mutation	SNP	ENST00000379672.5	37	c.385G>A	CCDS45616.1	.	.	.	.	.	.	.	.	.	.	G	14.81	2.645351	0.47258	.	.	ENSG00000006740	ENST00000379672;ENST00000340825	T;T	0.34072	1.38;1.38	5.92	5.92	0.95590	BAR (3);	0.121727	0.56097	D	0.000033	T	0.63745	0.2537	M	0.84082	2.675	0.80722	D	1	D;D	0.71674	0.998;0.99	D;P	0.65573	0.936;0.877	T	0.67221	-0.5725	10	0.87932	D	0	.	17.8186	0.88643	0.0:0.0:1.0:0.0	.	129;129	A6NCP5;Q17R89	.;RHG44_HUMAN	K	129	ENSP00000368994:E129K;ENSP00000342566:E129K	ENSP00000342566:E129K	E	+	1	0	ARHGAP44	12760051	1.000000	0.71417	0.837000	0.33122	0.365000	0.29674	8.491000	0.90468	2.818000	0.97014	0.655000	0.94253	GAG		0.512	ARHGAP44-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441566.1		NM_014859		8	26	0	0	0	0.00308	0	8	26		
LGALS9C	654346	broad.mit.edu	37	17	18394613	18394613	+	Silent	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr17:18394613G>A	ENST00000328114.6	+	7	684	c.603G>A	c.(601-603)caG>caA	p.Q201Q	LGALS9C_ENST00000581545.1_Silent_p.Q169Q|LGALS9C_ENST00000412421.2_Silent_p.Q113Q|LGALS9C_ENST00000583322.1_Silent_p.Q169Q|LGALS9C_ENST00000584941.1_Silent_p.Q157Q	NM_001040078.2	NP_001035167.2	Q6DKI2	LEG9C_HUMAN	lectin, galactoside-binding, soluble, 9C	201							carbohydrate binding (GO:0030246)			NS(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	7						ACACGGTGCAGAGTGCCTCTG	0.542																																						uc002gtw.2		NaN																	0				ovary(1)	1						c.(601-603)CAG>CAA		galectin 9 like							163.0	175.0	171.0					17																	18394613		2103	4069	6172	SO:0001819	synonymous_variant	654346						sugar binding	g.chr17:18394613G>A		CCDS32587.1	17p11.2	2011-08-04			ENSG00000171916	ENSG00000171916		"""Lectins, galactoside-binding"""	33874	protein-coding gene	gene with protein product							Standard	NM_001040078		Approved		uc002gtw.3	Q6DKI2	OTTHUMG00000059251	ENST00000328114.6:c.603G>A	17.37:g.18394613G>A						LGALS9C_uc010vyb.1_Silent_p.Q113Q	p.Q201Q	NM_001040078	NP_001035167	Q6DKI2	LEG9C_HUMAN			7	673	+			201					B0AZM7	Silent	SNP	ENST00000328114.6	37	c.603G>A	CCDS32587.1																																																																																				0.542	LGALS9C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000131456.2		NM_001040078		30	168	0	0	0	0.010818	0	30	168		
ASIC2	40	broad.mit.edu	37	17	32483149	32483149	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr17:32483149C>T	ENST00000359872.6	-	1	1164	c.403G>A	c.(403-405)Gag>Aag	p.E135K		NM_001094.4	NP_001085.2	Q16515	ASIC2_HUMAN	acid-sensing (proton-gated) ion channel 2	135					central nervous system development (GO:0007417)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|ion transmembrane transport (GO:0034220)|monovalent inorganic cation transport (GO:0015672)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|phototransduction (GO:0007602)|positive regulation of synapse assembly (GO:0051965)|protein localization to synapse (GO:0035418)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of membrane potential (GO:0042391)|regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback (GO:0003026)|regulation of vasoconstriction (GO:0019229)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|sensory perception of sound (GO:0007605)|sensory perception of sour taste (GO:0050915)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)|voltage-gated sodium channel activity (GO:0005248)	p.E135Q(1)								Amiloride(DB00594)	CGCAGGGCCTCCAGCACGGAG	0.597																																						uc002hhu.2		NaN																	1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(403-405)GAG>AAG		amiloride-sensitive cation channel 1, neuronal	Amiloride(DB00594)						86.0	95.0	92.0					17																	32483149		2140	4251	6391	SO:0001583	missense	40				central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	g.chr17:32483149C>T	AL834182	CCDS11276.1, CCDS42296.1	17q11.2-q12	2012-02-23	2012-02-22	2012-02-22	ENSG00000108684	ENSG00000108684		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	99	protein-coding gene	gene with protein product	"""degenerin"""	601784	"""amiloride-sensitive cation channel 1, neuronal"""	ACCN, ACCN1		8921408	Standard	NM_183377		Approved	ASIC2a, BNC1, BNaC1, hBNaC1, MDEG	uc002hhu.3	Q16515	OTTHUMG00000132885	ENST00000359872.6:c.403G>A	17.37:g.32483149C>T	ENSP00000352934:p.Glu135Lys						p.E135K	NM_001094	NP_001085	Q16515	ACCN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.13)|BRCA - Breast invasive adenocarcinoma(366;0.215)	1	677	-		Breast(31;0.042)|Ovarian(249;0.202)	135			Extracellular (By similarity).		E9PBX2|Q13553|Q6DJU1|Q8N3E2	Missense_Mutation	SNP	ENST00000359872.6	37	c.403G>A	CCDS42296.1	.	.	.	.	.	.	.	.	.	.	C	11.70	1.717636	0.30413	.	.	ENSG00000108684	ENST00000359872	T	0.63744	-0.06	4.96	4.96	0.65561	.	.	.	.	.	T	0.51652	0.1687	L	0.53671	1.685	0.46849	D	0.999226	B	0.12630	0.006	B	0.16289	0.015	T	0.41787	-0.9489	9	0.11182	T	0.66	.	9.1786	0.37127	0.0:0.9035:0.0:0.0965	.	135	Q16515	ACCN1_HUMAN	K	135	ENSP00000352934:E135K	ENSP00000352934:E135K	E	-	1	0	ACCN1	29507262	1.000000	0.71417	1.000000	0.80357	0.797000	0.45037	4.827000	0.62723	2.559000	0.86315	0.655000	0.94253	GAG		0.597	ASIC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447552.1		NM_183377, NM_001094		26	119	0	0	0	0.027356	0	26	119		
KRT9	3857	broad.mit.edu	37	17	39727637	39727637	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr17:39727637G>A	ENST00000246662.4	-	1	673	c.608C>T	c.(607-609)cCt>cTt	p.P203L	KRT9_ENST00000588431.1_5'UTR	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	203	Linker 1.|Rod.				epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				GTTATAATAAGGGGAGTAGTT	0.443																																						uc002hxe.3		NaN																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(607-609)CCT>CTT		keratin 9							157.0	153.0	154.0					17																	39727637		2203	4300	6503	SO:0001583	missense	3857				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton	g.chr17:39727637G>A		CCDS32654.1	17q21.2	2013-06-20	2008-08-01		ENSG00000171403	ENSG00000171403		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6447	protein-coding gene	gene with protein product	"""cytokeratin 9"", ""type I cytoskeletal 9"", ""epidermolytic palmoplantar keratoderma"""	607606				7512862, 16831889	Standard	NM_000226		Approved	EPPK, K9, CK-9	uc002hxe.4	P35527	OTTHUMG00000133599	ENST00000246662.4:c.608C>T	17.37:g.39727637G>A	ENSP00000246662:p.Pro203Leu					JUP_uc010wfs.1_Intron	p.P203L	NM_000226	NP_000217	P35527	K1C9_HUMAN			1	674	-		Breast(137;0.000307)	203			Rod.|Linker 1.		O00109|Q0IJ47|Q14665	Missense_Mutation	SNP	ENST00000246662.4	37	c.608C>T	CCDS32654.1	.	.	.	.	.	.	.	.	.	.	G	14.15	2.449671	0.43531	.	.	ENSG00000171403	ENST00000246662	D	0.85411	-1.98	4.79	-9.58	0.00559	Filament (1);	3.385870	0.01241	N	0.008611	T	0.73613	0.3609	N	0.21508	0.67	0.09310	N	0.999999	B	0.10296	0.003	B	0.15870	0.014	T	0.61486	-0.7053	10	0.39692	T	0.17	.	10.6402	0.45588	0.0:0.2301:0.2566:0.5133	.	203	P35527	K1C9_HUMAN	L	203	ENSP00000246662:P203L	ENSP00000246662:P203L	P	-	2	0	KRT9	36981163	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.808000	0.00361	-2.351000	0.00617	-0.485000	0.04761	CCT		0.443	KRT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257707.1		NM_000226		30	143	0	0	0	0.007291	0	30	143		
MFSD11	79157	broad.mit.edu	37	17	74774367	74774367	+	Missense_Mutation	SNP	C	C	T	rs3198672		TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr17:74774367C>T	ENST00000588460.1	+	13	3325	c.1283C>T	c.(1282-1284)tCt>tTt	p.S428F	MFSD11_ENST00000355954.3_Missense_Mutation_p.S376F|MFSD11_ENST00000590070.1_3'UTR|MFSD11_ENST00000336509.4_Missense_Mutation_p.S428F|MFSD11_ENST00000593181.1_Missense_Mutation_p.S376F|MFSD11_ENST00000586622.1_Missense_Mutation_p.S428F|MFSD11_ENST00000590514.1_Missense_Mutation_p.S428F	NM_001242534.1	NP_001229463.1	O43934	MFS11_HUMAN	major facilitator superfamily domain containing 11	428			S -> F (in dbSNP:rs3198672). {ECO:0000269|PubMed:9358160}.			integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)	17						GGAACAATTTCTTTCTTCACT	0.493																																						uc002jta.2		NaN																	0				ovary(1)	1						c.(1282-1284)TCT>TTT		major facilitator superfamily domain containing							179.0	164.0	169.0					17																	74774367		2203	4300	6503	SO:0001583	missense	79157					integral to membrane		g.chr17:74774367C>T	BC002753	CCDS11750.1, CCDS56045.1	17q25.1	2012-03-09			ENSG00000092931	ENSG00000092931			25458	protein-coding gene	gene with protein product						9358160	Standard	NM_001242532		Approved	FLJ22196, FLJ20226	uc002jte.3	O43934		ENST00000588460.1:c.1283C>T	17.37:g.74774367C>T	ENSP00000464932:p.Ser428Phe					MFSD11_uc002jtb.2_Missense_Mutation_p.S428F|MFSD11_uc010dha.2_Missense_Mutation_p.S376F|MFSD11_uc002jtc.2_Missense_Mutation_p.S428F|MFSD11_uc002jtd.3_Missense_Mutation_p.S428F|MFSD11_uc010dhb.2_Missense_Mutation_p.S376F|MFSD11_uc002jte.2_Missense_Mutation_p.S428F	p.S428F	NM_024311	NP_077287	O43934	MFS11_HUMAN			14	2256	+			428			Helical; (Potential).		O43442|Q9NXI5	Missense_Mutation	SNP	ENST00000588460.1	37	c.1283C>T	CCDS11750.1	.	.	.	.	.	.	.	.	.	.	C	17.04	3.287109	0.59867	.	.	ENSG00000092931	ENST00000336509;ENST00000355954	T;T	0.80033	-1.33;-1.33	6.07	6.07	0.98685	Major facilitator superfamily domain, general substrate transporter (1);	0.270733	0.42682	D	0.000670	T	0.80737	0.4680	L	0.38531	1.155	0.36558	D	0.872267	D;P	0.53151	0.958;0.901	P;P	0.48141	0.568;0.467	D	0.83929	0.0305	10	0.62326	D	0.03	-14.3127	20.6593	0.99626	0.0:1.0:0.0:0.0	rs3198672	376;428	O43934-2;O43934	.;MFS11_HUMAN	F	428;376	ENSP00000337240:S428F;ENSP00000348225:S376F	ENSP00000337240:S428F	S	+	2	0	MFSD11	72285962	0.353000	0.24904	0.040000	0.18447	0.324000	0.28378	3.890000	0.56220	2.885000	0.99019	0.655000	0.94253	TCT		0.493	MFSD11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451516.1		NM_024311		11	79	0	0	0	0.010729	0	11	79		
MFSD11	79157	broad.mit.edu	37	17	74774374	74774374	+	Silent	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr17:74774374C>T	ENST00000588460.1	+	13	3332	c.1290C>T	c.(1288-1290)ttC>ttT	p.F430F	MFSD11_ENST00000355954.3_Silent_p.F378F|MFSD11_ENST00000590070.1_3'UTR|MFSD11_ENST00000336509.4_Silent_p.F430F|MFSD11_ENST00000593181.1_Silent_p.F378F|MFSD11_ENST00000586622.1_Silent_p.F430F|MFSD11_ENST00000590514.1_Silent_p.F430F	NM_001242534.1	NP_001229463.1	O43934	MFS11_HUMAN	major facilitator superfamily domain containing 11	430						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)	17						TTTCTTTCTTCACTGTGGAAT	0.498																																						uc002jta.2		NaN																	0				ovary(1)	1						c.(1288-1290)TTC>TTT		major facilitator superfamily domain containing							169.0	155.0	160.0					17																	74774374		2203	4300	6503	SO:0001819	synonymous_variant	79157					integral to membrane		g.chr17:74774374C>T	BC002753	CCDS11750.1, CCDS56045.1	17q25.1	2012-03-09			ENSG00000092931	ENSG00000092931			25458	protein-coding gene	gene with protein product						9358160	Standard	NM_001242532		Approved	FLJ22196, FLJ20226	uc002jte.3	O43934		ENST00000588460.1:c.1290C>T	17.37:g.74774374C>T						MFSD11_uc002jtb.2_Silent_p.F430F|MFSD11_uc010dha.2_Silent_p.F378F|MFSD11_uc002jtc.2_Silent_p.F430F|MFSD11_uc002jtd.3_Silent_p.F430F|MFSD11_uc010dhb.2_Silent_p.F378F|MFSD11_uc002jte.2_Silent_p.F430F	p.F430F	NM_024311	NP_077287	O43934	MFS11_HUMAN			14	2263	+			430			Helical; (Potential).		O43442|Q9NXI5	Silent	SNP	ENST00000588460.1	37	c.1290C>T	CCDS11750.1																																																																																				0.498	MFSD11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451516.1		NM_024311		11	81	0	0	0	0.016723	0	11	81		
P4HB	5034	broad.mit.edu	37	17	79803505	79803505	+	Missense_Mutation	SNP	C	C	G	rs201920701		TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr17:79803505C>G	ENST00000331483.4	-	9	1513	c.1291G>C	c.(1291-1293)Gag>Cag	p.E431Q	P4HB_ENST00000472244.1_5'Flank|RP11-498C9.2_ENST00000576784.1_RNA|P4HB_ENST00000439918.2_Missense_Mutation_p.E387Q|P4HB_ENST00000576390.1_Intron	NM_000918.3	NP_000909.2	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta polypeptide	431	Thioredoxin 2. {ECO:0000255|PROSITE- ProRule:PRU00691}.				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)			GCCTCCACCTCGTTGGCAGTC	0.582																																					Colon(49;444 983 1296 7887 42561)	uc002kbn.1		NaN																	0					0						c.(1291-1293)GAG>CAG		prolyl 4-hydroxylase, beta subunit precursor							158.0	119.0	132.0					17																	79803505		2203	4300	6503	SO:0001583	missense	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.chr17:79803505C>G	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.1291G>C	17.37:g.79803505C>G	ENSP00000327801:p.Glu431Gln					P4HB_uc002kbl.1_Missense_Mutation_p.E108Q|P4HB_uc002kbm.1_Missense_Mutation_p.E108Q	p.E431Q	NM_000918	NP_000909	P07237	PDIA1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)		9	1488	-	all_neural(118;0.0878)|Ovarian(332;0.12)		431			Thioredoxin 2.		B2RDQ2|P30037|P32079|Q15205|Q6LDE5	Missense_Mutation	SNP	ENST00000331483.4	37	c.1291G>C	CCDS11787.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.8|25.8	4.675307|4.675307	0.88445|0.88445	.|.	.|.	ENSG00000185624|ENSG00000185624	ENST00000331483;ENST00000537205;ENST00000436463;ENST00000439918|ENST00000415593	T|.	0.03386|.	3.95|.	5.76|5.76	5.76|5.76	0.90799|0.90799	Thioredoxin domain (1);Thioredoxin-like fold (3);Disulphide isomerase (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.67636|0.67636	0.2914|0.2914	L|L	0.39514|0.39514	1.22|1.22	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|T	0.61402|0.61402	-0.7070|-0.7070	10|5	0.87932|.	D|.	0|.	.|.	19.9543|19.9543	0.97213|0.97213	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	431|.	P07237|.	PDIA1_HUMAN|.	Q|P	431;374;415;235|196	ENSP00000327801:E431Q|.	ENSP00000327801:E431Q|.	E|R	-|-	1|2	0|0	P4HB|P4HB	77396794|77396794	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.453000|0.453000	0.32348|0.32348	7.725000|7.725000	0.84808|0.84808	2.725000|2.725000	0.93324|0.93324	0.591000|0.591000	0.81541|0.81541	GAG|CGA		0.582	P4HB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317250.3		NM_000918		4	25	0	0	0	0.009096	0	4	25		
P4HB	5034	broad.mit.edu	37	17	79804359	79804359	+	Silent	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr17:79804359C>T	ENST00000331483.4	-	7	1224	c.1002G>A	c.(1000-1002)ctG>ctA	p.L334L	P4HB_ENST00000472244.1_5'Flank|RP11-498C9.2_ENST00000576784.1_RNA|P4HB_ENST00000439918.2_Silent_p.L290L|P4HB_ENST00000576390.1_Intron	NM_000918.3	NP_000909.2	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta polypeptide	334					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)			TCTCTGCCGTCAGCTCCTCCG	0.632																																					Colon(49;444 983 1296 7887 42561)	uc002kbn.1		NaN																	0					0						c.(1000-1002)CTG>CTA		prolyl 4-hydroxylase, beta subunit precursor							121.0	90.0	100.0					17																	79804359		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.chr17:79804359C>T	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.1002G>A	17.37:g.79804359C>T						P4HB_uc002kbl.1_Silent_p.L11L|P4HB_uc002kbm.1_Silent_p.L11L	p.L334L	NM_000918	NP_000909	P07237	PDIA1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)		7	1199	-	all_neural(118;0.0878)|Ovarian(332;0.12)		334					B2RDQ2|P30037|P32079|Q15205|Q6LDE5	Silent	SNP	ENST00000331483.4	37	c.1002G>A	CCDS11787.1	.	.	.	.	.	.	.	.	.	.	C	1.482	-0.556961	0.03967	.	.	ENSG00000185624	ENST00000415593;ENST00000439918	.	.	.	5.74	-0.528	0.11905	.	.	.	.	.	T	0.51075	0.1653	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40308	-0.9570	4	.	.	.	.	6.0664	0.19866	0.0898:0.3912:0.3838:0.1352	.	.	.	.	N	100;121	.	.	D	-	1	0	P4HB	77397648	1.000000	0.71417	0.931000	0.37212	0.007000	0.05969	0.792000	0.26929	0.059000	0.16252	-0.165000	0.13383	GAC		0.632	P4HB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317250.3		NM_000918		28	129	0	0	0	0.007291	0	28	129		
VAPA	9218	broad.mit.edu	37	18	9931810	9931810	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr18:9931810C>T	ENST00000400000.2	+	2	338	c.83C>T	c.(82-84)cCc>cTc	p.P28L	VAPA_ENST00000340541.4_Missense_Mutation_p.P28L|VAPA_ENST00000584796.1_3'UTR	NM_003574.5|NM_194434.2	NP_003565.4|NP_919415.2	Q9P0L0	VAPA_HUMAN	VAMP (vesicle-associated membrane protein)-associated protein A, 33kDa	28	MSP. {ECO:0000255|PROSITE- ProRule:PRU00132}.				cell death (GO:0008219)|membrane fusion (GO:0061025)|neuron projection development (GO:0031175)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein localization to endoplasmic reticulum (GO:0070972)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	protein heterodimerization activity (GO:0046982)|signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(1)|lung(2)|prostate(1)	4						TTTACAGGCCCCTTCACAGAT	0.333																																						uc002kok.2		NaN																	0					0						c.(82-84)CCC>CTC		vesicle-associated membrane protein-associated							72.0	71.0	71.0					18																	9931810		1895	4125	6020	SO:0001583	missense	9218				cell death|cellular membrane fusion|neuron projection development|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein localization in endoplasmic reticulum|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane|vesicle	protein heterodimerization activity|signal transducer activity|structural molecule activity	g.chr18:9931810C>T		CCDS11847.2, CCDS11848.2	18p11.2	2008-07-28	2002-08-29		ENSG00000101558	ENSG00000101558			12648	protein-coding gene	gene with protein product		605703	"""VAMP (vesicle-associated membrane protein)-associated protein A (33kD)"""			9920726, 9657962	Standard	NM_003574		Approved	hVAP-33, VAP-A	uc002koj.3	Q9P0L0	OTTHUMG00000131603	ENST00000400000.2:c.83C>T	18.37:g.9931810C>T	ENSP00000382880:p.Pro28Leu					VAPA_uc002koj.2_Missense_Mutation_p.P28L	p.P28L	NM_194434	NP_919415	Q9P0L0	VAPA_HUMAN			2	382	+			28			Cytoplasmic (Potential).|MSP.		A6NDZ0|D3DUI3|O75453|Q5U0E7|Q9UBZ2	Missense_Mutation	SNP	ENST00000400000.2	37	c.83C>T	CCDS11848.2	.	.	.	.	.	.	.	.	.	.	C	31	5.087437	0.94100	.	.	ENSG00000101558	ENST00000340541;ENST00000400000	T;T	0.73258	-0.73;-0.73	5.69	5.69	0.88448	PapD-like (2);	0.000000	0.85682	D	0.000000	D	0.88276	0.6393	M	0.91196	3.185	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.89424	0.3712	9	.	.	.	-11.7824	20.181	0.98201	0.0:1.0:0.0:0.0	.	28;28	Q9P0L0;Q9P0L0-2	VAPA_HUMAN;.	L	28	ENSP00000345656:P28L;ENSP00000382880:P28L	.	P	+	2	0	VAPA	9921810	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.770000	0.85390	2.840000	0.97914	0.655000	0.94253	CCC		0.333	VAPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254490.1				21	88	0	0	0	0.010504	0	21	88		
CABLES1	91768	broad.mit.edu	37	18	20832925	20832925	+	Splice_Site	SNP	C	C	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr18:20832925C>A	ENST00000256925.7	+	8	1448	c.1448C>A	c.(1447-1449)aCa>aAa	p.T483K	CABLES1_ENST00000585061.1_Intron|TMEM241_ENST00000450466.2_Intron|CABLES1_ENST00000400473.2_Splice_Site_p.T156K|CABLES1_ENST00000420687.2_Splice_Site_p.T218K	NM_001100619.2	NP_001094089.1	Q8TDN4	CABL1_HUMAN	Cdk5 and Abl enzyme substrate 1	483	Interacts with CDK3. {ECO:0000250}.				blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|nervous system development (GO:0007399)|regulation of cell cycle (GO:0051726)|regulation of cell division (GO:0051302)	cytosol (GO:0005829)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CTGTTACAGACAACAGTGATT	0.438																																						uc002kuc.2		NaN																	0				breast(1)	1						c.(1447-1449)ACA>AAA		Cdk5 and Abl enzyme substrate 1 isoform 2							98.0	97.0	97.0					18																	20832925		2160	4294	6454	SO:0001630	splice_region_variant	91768				blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division	cytosol|nucleus	cyclin-dependent protein kinase regulator activity|protein binding	g.chr18:20832925C>A	BC037218	CCDS42417.1, CCDS42418.1, CCDS58615.1	18q11.2	2005-08-16				ENSG00000134508			25097	protein-coding gene	gene with protein product		609194				12477932	Standard	NM_138375		Approved	HsT2563, FLJ35924	uc002kuc.2	Q8TDN4		ENST00000256925.7:c.1447-1C>A	18.37:g.20832925C>A						C18orf45_uc010xaq.1_Intron|CABLES1_uc002kub.2_5'UTR|CABLES1_uc002kud.2_Missense_Mutation_p.T218K	p.T483K	NM_001100619	NP_001094089	Q8TDN4	CABL1_HUMAN			8	1448	+	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)		483			Interacts with CDK3 (By similarity).		B4DK60|Q8N3Y8|Q8NA22|Q9BTG1	Missense_Mutation	SNP	ENST00000256925.7	37	c.1448C>A	CCDS42417.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.340345	0.81911	.	.	ENSG00000134508	ENST00000400473;ENST00000256925;ENST00000420687	T;T;T	0.16743	2.32;2.32;2.32	5.77	5.77	0.91146	Cyclin-like (1);	0.000000	0.85682	D	0.000000	T	0.47135	0.1429	M	0.78049	2.395	0.80722	D	1	D;D	0.76494	0.996;0.999	P;D	0.80764	0.889;0.994	T	0.40346	-0.9568	10	0.87932	D	0	-24.4785	20.3472	0.98799	0.0:1.0:0.0:0.0	.	218;483	Q8TDN4-2;Q8TDN4	.;CABL1_HUMAN	K	156;483;218	ENSP00000383321:T156K;ENSP00000256925:T483K;ENSP00000413851:T218K	ENSP00000256925:T483K	T	+	2	0	CABLES1	19086923	1.000000	0.71417	1.000000	0.80357	0.273000	0.26683	7.818000	0.86416	2.890000	0.99128	0.650000	0.86243	ACA		0.438	CABLES1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445198.2		NM_138375	Missense_Mutation	11	44	1	0	5.50884e-06	0.013537	5.6419e-06	11	44		
KEAP1	9817	broad.mit.edu	37	19	10610363	10610363	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr19:10610363C>G	ENST00000171111.5	-	2	894	c.347G>C	c.(346-348)cGg>cCg	p.R116P	KEAP1_ENST00000393623.2_Missense_Mutation_p.R116P|KEAP1_ENST00000588024.1_5'Flank	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	116	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)				breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	GCCCTGCTCCCGCAGCCCGTT	0.612																																						uc002moq.1		NaN																	0				lung(12)|breast(3)|ovary(1)|pancreas(1)	17						c.(346-348)CGG>CCG		kelch-like ECH-associated protein 1							90.0	74.0	80.0					19																	10610363		2203	4300	6503	SO:0001583	missense	9817				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	g.chr19:10610363C>G	AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"""Kelch-like"", ""BTB/POZ domain containing"""	23177	protein-coding gene	gene with protein product	"""kelch-like family member 19"""	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.347G>C	19.37:g.10610363C>G	ENSP00000171111:p.Arg116Pro					KEAP1_uc002mor.1_Missense_Mutation_p.R116P	p.R116P	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		2	503	-			116			BTB.		B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Missense_Mutation	SNP	ENST00000171111.5	37	c.347G>C	CCDS12239.1	.	.	.	.	.	.	.	.	.	.	C	18.71	3.682180	0.68042	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	T;T	0.67523	-0.27;-0.27	4.68	4.68	0.58851	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.059304	0.64402	D	0.000003	T	0.78704	0.4325	M	0.76170	2.325	0.49798	D	0.999821	D	0.59767	0.986	P	0.62649	0.905	T	0.78066	-0.2349	10	0.33141	T	0.24	.	15.0979	0.72250	0.0:1.0:0.0:0.0	.	116	Q14145	KEAP1_HUMAN	P	116	ENSP00000171111:R116P;ENSP00000377245:R116P	ENSP00000171111:R116P	R	-	2	0	KEAP1	10471363	0.972000	0.33761	1.000000	0.80357	0.988000	0.76386	1.842000	0.39250	2.162000	0.67917	0.462000	0.41574	CGG		0.612	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1		NM_012289		11	58	0	0	0	0.008291	0	11	58		
CACNA1A	773	broad.mit.edu	37	19	13476201	13476201	+	Silent	SNP	A	A	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr19:13476201A>G	ENST00000360228.5	-	5	713	c.714T>C	c.(712-714)ctT>ctC	p.L238L	CACNA1A_ENST00000573710.2_Silent_p.L238L	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	238					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	TTGCAAAAATAAGGATTGCAA	0.458																																						uc010dze.2		NaN																	0				large_intestine(2)	2						c.(712-714)CTT>CTC		calcium channel, alpha 1A subunit isoform 3	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						83.0	84.0	84.0					19																	13476201		1874	4095	5969	SO:0001819	synonymous_variant	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13476201A>G	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.714T>C	19.37:g.13476201A>G						CACNA1A_uc002mwy.3_Silent_p.L238L	p.L238L	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		5	950	-			238			I.|Helical; Name=S5 of repeat I; (Potential).		J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Silent	SNP	ENST00000360228.5	37	c.714T>C	CCDS45998.1																																																																																				0.458	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2		NM_000068		14	95	0	0	0	0.016723	0	14	95		
CPAMD8	27151	broad.mit.edu	37	19	17088246	17088246	+	Missense_Mutation	SNP	C	C	T	rs374200163		TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr19:17088246C>T	ENST00000443236.1	-	15	1862	c.1831G>A	c.(1831-1833)Gtc>Atc	p.V611I	CPAMD8_ENST00000388925.4_Intron	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	564						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						TTCTCCCTGACGTAGAAGACC	0.592																																						uc002nfb.2		NaN																	0				ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13						c.(1831-1833)GTC>ATC		C3 and PZP-like, alpha-2-macroglobulin domain		C	ILE/VAL	2,3936		0,2,1967	62.0	65.0	64.0		1831	2.8	0.7	19		64	0,8306		0,0,4153	no	missense	CPAMD8	NM_015692.2	29	0,2,6120	TT,TC,CC		0.0,0.0508,0.0163	probably-damaging	611/1933	17088246	2,12242	1969	4153	6122	SO:0001583	missense	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17088246C>T	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.1831G>A	19.37:g.17088246C>T	ENSP00000402505:p.Val611Ile						p.V611I	NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN			15	1863	-			564					Q8NC09|Q9ULD7	Missense_Mutation	SNP	ENST00000443236.1	37	c.1831G>A	CCDS42519.1	.	.	.	.	.	.	.	.	.	.	c	21.4	4.148016	0.78001	5.08E-4	0.0	ENSG00000160111	ENST00000291440	.	.	.	2.78	2.78	0.32641	Alpha-2-macroglobulin, N-terminal 2 (1);	0.204914	0.30920	U	0.008606	T	0.61426	0.2346	L	0.28192	0.835	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.58713	-0.7588	9	0.28530	T	0.3	.	13.8213	0.63322	0.0:1.0:0.0:0.0	.	564	Q8IZJ3	CPMD8_HUMAN	I	611	.	ENSP00000291440:V611I	V	-	1	0	CPAMD8	16949246	1.000000	0.71417	0.703000	0.30354	0.946000	0.59487	6.296000	0.72751	1.276000	0.44395	0.586000	0.80456	GTC		0.592	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2		NM_015692		16	94	0	0	0	0.00499	0	16	94		
PLVAP	83483	broad.mit.edu	37	19	17476791	17476791	+	Silent	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr19:17476791C>T	ENST00000252590.4	-	3	544	c.483G>A	c.(481-483)ctG>ctA	p.L161L		NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	161					MAPK cascade (GO:0000165)|positive regulation of cellular extravasation (GO:0002693)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CCTTCTGATTCAGCATGAAGA	0.572																																						uc002ngk.1		NaN																	0					0						c.(481-483)CTG>CTA		plasmalemma vesicle associated protein							48.0	47.0	48.0					19																	17476791		2203	4300	6503	SO:0001819	synonymous_variant	83483					caveola|integral to membrane|perinuclear region of cytoplasm		g.chr19:17476791C>T	AF326591	CCDS32952.1	19p13.2	2008-07-17				ENSG00000130300			13635	protein-coding gene	gene with protein product	"""fenestrated-endothelial linked structure protein; PV-1 protein"""	607647				11401446	Standard	NM_031310		Approved	gp68, PV-1, PV1, FELS	uc002ngk.1	Q9BX97		ENST00000252590.4:c.483G>A	19.37:g.17476791C>T							p.L161L	NM_031310	NP_112600	Q9BX97	PLVAP_HUMAN			3	533	-			161			Extracellular (Potential).		Q86VP0|Q8N8Y0|Q8ND68|Q8TER8|Q9BZD5	Silent	SNP	ENST00000252590.4	37	c.483G>A	CCDS32952.1																																																																																				0.572	PLVAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463655.1		NM_031310		12	58	0	0	0	0.010729	0	12	58		
PLVAP	83483	broad.mit.edu	37	19	17487766	17487766	+	Missense_Mutation	SNP	C	C	T	rs144117840		TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr19:17487766C>T	ENST00000252590.4	-	1	393	c.332G>A	c.(331-333)cGc>cAc	p.R111H		NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	111					MAPK cascade (GO:0000165)|positive regulation of cellular extravasation (GO:0002693)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGCATTGATGCGGTCCAGGTC	0.637																																						uc002ngk.1		NaN																	0					0						c.(331-333)CGC>CAC		plasmalemma vesicle associated protein		C	HIS/ARG	0,4406		0,0,2203	83.0	73.0	77.0		332	3.7	1.0	19	dbSNP_134	77	2,8598	2.2+/-6.3	0,2,4298	no	missense	PLVAP	NM_031310.1	29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	111/443	17487766	2,13004	2203	4300	6503	SO:0001583	missense	83483					caveola|integral to membrane|perinuclear region of cytoplasm		g.chr19:17487766C>T	AF326591	CCDS32952.1	19p13.2	2008-07-17				ENSG00000130300			13635	protein-coding gene	gene with protein product	"""fenestrated-endothelial linked structure protein; PV-1 protein"""	607647				11401446	Standard	NM_031310		Approved	gp68, PV-1, PV1, FELS	uc002ngk.1	Q9BX97		ENST00000252590.4:c.332G>A	19.37:g.17487766C>T	ENSP00000252590:p.Arg111His						p.R111H	NM_031310	NP_112600	Q9BX97	PLVAP_HUMAN			1	382	-			111			Extracellular (Potential).		Q86VP0|Q8N8Y0|Q8ND68|Q8TER8|Q9BZD5	Missense_Mutation	SNP	ENST00000252590.4	37	c.332G>A	CCDS32952.1	.	.	.	.	.	.	.	.	.	.	C	14.12	2.440972	0.43326	0.0	2.33E-4	ENSG00000130300	ENST00000252590	T	0.29397	1.57	4.77	3.7	0.42460	.	0.885835	0.09683	N	0.769425	T	0.43875	0.1267	L	0.34521	1.04	0.32135	N	0.586214	D	0.89917	1.0	D	0.73380	0.98	T	0.46803	-0.9165	10	0.66056	D	0.02	-24.3576	10.3112	0.43710	0.1973:0.8027:0.0:0.0	.	111	Q9BX97	PLVAP_HUMAN	H	111	ENSP00000252590:R111H	ENSP00000252590:R111H	R	-	2	0	PLVAP	17348766	0.991000	0.36638	0.992000	0.48379	0.020000	0.10135	2.321000	0.43805	1.081000	0.41110	0.561000	0.74099	CGC		0.637	PLVAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463655.1		NM_031310		12	66	0	0	0	0.010729	0	12	66		
IL12RB1	3594	broad.mit.edu	37	19	18174767	18174767	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr19:18174767C>T	ENST00000600835.2	-	14	1835	c.1537G>A	c.(1537-1539)Ggt>Agt	p.G513S	IL12RB1_ENST00000593993.2_Missense_Mutation_p.G513S			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	513	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-23-mediated signaling pathway (GO:0038155)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|interleukin-12 receptor complex (GO:0042022)|interleukin-23 receptor complex (GO:0072536)	cytokine receptor activity (GO:0004896)			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						TAGGCTACACCAGCCCGCAGG	0.637																																						uc002nhw.1		NaN																	0				pancreas(1)	1						c.(1537-1539)GGT>AGT		interleukin 12 receptor, beta 1 isoform 1							31.0	34.0	33.0					19																	18174767		2044	4201	6245	SO:0001583	missense	3594				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity	g.chr19:18174767C>T	U03187	CCDS32957.1, CCDS54232.1	19p13.1	2014-09-17						"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	5971	protein-coding gene	gene with protein product		601604		IL12RB		9284929	Standard	XM_005259893		Approved	CD212	uc002nhw.1	P42701		ENST00000600835.2:c.1537G>A	19.37:g.18174767C>T	ENSP00000470788:p.Gly513Ser					IL12RB1_uc010xqb.1_Missense_Mutation_p.G513S|IL12RB1_uc002nhx.1_Missense_Mutation_p.G553S	p.G513S	NM_005535	NP_005526	P42701	I12R1_HUMAN			13	1601	-			513			Extracellular (Potential).|Fibronectin type-III 5.		A8K308|B2RPF1|B7ZKK3|Q8N6Q7	Missense_Mutation	SNP	ENST00000600835.2	37	c.1537G>A	CCDS54232.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.368605	0.42003	.	.	ENSG00000096996	ENST00000430026	T	0.61742	0.08	3.21	2.12	0.27331	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.415837	0.20545	N	0.090233	T	0.63558	0.2521	L	0.57536	1.79	0.09310	N	0.999997	D;D	0.89917	1.0;1.0	D;D	0.76071	0.979;0.987	T	0.54430	-0.8295	10	0.08381	T	0.77	-15.9652	8.0914	0.30803	0.0:0.7334:0.2666:0.0	.	513;513	P42701-2;P42701	.;I12R1_HUMAN	S	513	ENSP00000403103:G513S	ENSP00000403103:G513S	G	-	1	0	IL12RB1	18035767	0.018000	0.18449	0.003000	0.11579	0.270000	0.26580	1.549000	0.36212	0.871000	0.35750	0.491000	0.48974	GGT		0.637	IL12RB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466525.3				6	29	0	0	0	0.001984	0	6	29		
ISYNA1	51477	broad.mit.edu	37	19	18547041	18547041	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr19:18547041G>A	ENST00000338128.8	-	7	993	c.776C>T	c.(775-777)tCg>tTg	p.S259L	ISYNA1_ENST00000457269.4_Missense_Mutation_p.S205L|ISYNA1_ENST00000317018.6_Missense_Mutation_p.S57L|ISYNA1_ENST00000578963.1_Missense_Mutation_p.S131L|ISYNA1_ENST00000545187.1_Missense_Mutation_p.S109L	NM_001170938.1|NM_016368.4	NP_001164409.1|NP_057452.1	Q9NPH2	INO1_HUMAN	inositol-3-phosphate synthase 1	259					inositol biosynthetic process (GO:0006021)|inositol phosphate metabolic process (GO:0043647)|phospholipid biosynthetic process (GO:0008654)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	inositol-3-phosphate synthase activity (GO:0004512)			breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	12						CGTGGAGGGCGACACCTCCAG	0.677																																						uc002njd.1		NaN																	0				ovary(1)|pancreas(1)	2						c.(775-777)TCG>TTG		inositol-3-phosphate synthase 1							28.0	32.0	31.0					19																	18547041		2203	4299	6502	SO:0001583	missense	51477				inositol biosynthetic process|phospholipid biosynthetic process	cytoplasm	binding|inositol-3-phosphate synthase activity	g.chr19:18547041G>A		CCDS12379.1, CCDS54234.1, CCDS62603.1	19p13.11	2014-09-04			ENSG00000105655	ENSG00000105655	5.5.1.4		29821	protein-coding gene	gene with protein product	"""myo-inositol 1-phosphate synthase"""	611670				15024000, 12941308	Standard	NM_016368		Approved	Ino1, INOS, IPS	uc002njd.2	Q9NPH2	OTTHUMG00000179027	ENST00000338128.8:c.776C>T	19.37:g.18547041G>A	ENSP00000337746:p.Ser259Leu					ISYNA1_uc002nja.1_Missense_Mutation_p.S131L|ISYNA1_uc002njb.1_Missense_Mutation_p.S177L|ISYNA1_uc002njc.1_Missense_Mutation_p.S109L|ISYNA1_uc010xqh.1_Missense_Mutation_p.S57L|ISYNA1_uc002nje.1_Missense_Mutation_p.S205L|ISYNA1_uc002njf.1_Missense_Mutation_p.S109L	p.S259L	NM_016368	NP_057452	Q9NPH2	INO1_HUMAN			7	826	-			259					B3KRT1|G5E9U0|Q6NXT5|Q7Z525|Q9BT65|Q9H2Y2|Q9NSU0|Q9NVW7	Missense_Mutation	SNP	ENST00000338128.8	37	c.776C>T	CCDS12379.1	.	.	.	.	.	.	.	.	.	.	G	11.19	1.564918	0.27915	.	.	ENSG00000105655	ENST00000338128;ENST00000457269;ENST00000545187;ENST00000317018	.	.	.	4.26	4.26	0.50523	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.87229	0.6125	H	0.96604	3.85	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.998;1.0;0.997	D	0.91313	0.5076	9	0.87932	D	0	-24.8217	14.5444	0.68017	0.0:0.0:1.0:0.0	.	57;205;259;109	B7Z3K3;G5E9U0;Q9NPH2;G3V1R9	.;.;INO1_HUMAN;.	L	259;205;109;57	.	ENSP00000315147:S57L	S	-	2	0	ISYNA1	18408041	1.000000	0.71417	0.923000	0.36655	0.151000	0.21798	6.547000	0.73892	2.375000	0.81037	0.561000	0.74099	TCG		0.677	ISYNA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444469.2		NM_016368		7	48	0	0	0	0.001984	0	7	48		
KMT2B	9757	broad.mit.edu	37	19	36221656	36221656	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr19:36221656G>A	ENST00000222270.7	+	26	5325	c.5325G>A	c.(5323-5325)tgG>tgA	p.W1775*	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Nonsense_Mutation_p.W1775*	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1775	FYR N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00875}.				chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										GGCGCTGCTGGTATCGGTGCC	0.597																																						uc010eei.2		NaN																	0				central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11						c.(5323-5325)TGG>TGA		myeloid/lymphoid or mixed-lineage leukemia 4							48.0	53.0	52.0					19																	36221656		2036	4199	6235	SO:0001587	stop_gained	9757				chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:36221656G>A	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.5325G>A	19.37:g.36221656G>A	ENSP00000222270:p.Trp1775*						p.W1775*	NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		27	5325	+	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		1775			FYR N-terminal.		O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Nonsense_Mutation	SNP	ENST00000222270.7	37	c.5325G>A	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	G	44	11.084932	0.99513	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	.	.	.	5.97	5.97	0.96955	.	0.000000	0.42053	D	0.000768	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	19.1994	0.93704	0.0:0.0:1.0:0.0	.	.	.	.	X	1775	.	ENSP00000222270:W1775X	W	+	3	0	AD000671.1	40913496	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.497000	0.60367	2.837000	0.97791	0.655000	0.94253	TGG		0.597	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_014727		11	70	0	0	0	0.008291	0	11	70		
ZNF404	342908	broad.mit.edu	37	19	44378165	44378165	+	Silent	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr19:44378165C>T	ENST00000587539.1	-	3	200	c.201G>A	c.(199-201)gcG>gcA	p.A67A	ZNF404_ENST00000324394.6_Silent_p.A65A	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN	zinc finger protein 404	67	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				CCTGATGGTACGCATTTACTT	0.318																																						uc002oxs.3		NaN																	0					0						c.(190-192)GCG>GCA		zinc finger protein 404							48.0	49.0	49.0					19																	44378165		1821	4064	5885	SO:0001819	synonymous_variant	342908				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44378165C>T	XM_092027	CCDS59394.1	19q13.31	2013-01-08				ENSG00000176222		"""Zinc fingers, C2H2-type"", ""-"""	19417	protein-coding gene	gene with protein product							Standard	NM_001033719		Approved		uc002oxs.5	Q494X3		ENST00000587539.1:c.201G>A	19.37:g.44378165C>T							p.A64A	NM_001033719	NP_001028891	Q494X3	ZN404_HUMAN			2	201	-		Prostate(69;0.0352)	67			KRAB.		A4FU30|K7ELF2	Silent	SNP	ENST00000587539.1	37	c.192G>A	CCDS59394.1																																																																																				0.318	ZNF404-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460019.1		NM_001033719		11	51	0	0	0	0.008291	0	11	51		
IRF2BP1	26145	broad.mit.edu	37	19	46387808	46387808	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr19:46387808C>T	ENST00000302165.3	-	1	1568	c.1225G>A	c.(1225-1227)Ggc>Agc	p.G409S		NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein 1	409					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)			cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		TACGGGCCGCCGGGTGCCACC	0.721																																						uc002pds.1		NaN																	0					0						c.(1225-1227)GGC>AGC		interferon regulatory factor 2 binding protein							14.0	17.0	16.0					19																	46387808		2149	4200	6349	SO:0001583	missense	26145				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr19:46387808C>T	AY278022	CCDS12678.1	19q13.32	2008-02-05							21728	protein-coding gene	gene with protein product		615331				12799427	Standard	NM_015649		Approved	DKFZP434M154, IRF-2BP1	uc002pds.1	Q8IU81		ENST00000302165.3:c.1225G>A	19.37:g.46387808C>T	ENSP00000307265:p.Gly409Ser						p.G409S	NM_015649	NP_056464	Q8IU81	I2BP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)	1	1569	-		all_neural(266;0.113)|Ovarian(192;0.127)	409					Q53EL7|Q6DC95|Q9BRZ9|Q9Y4P4	Missense_Mutation	SNP	ENST00000302165.3	37	c.1225G>A	CCDS12678.1	.	.	.	.	.	.	.	.	.	.	C	0.072	-1.200341	0.01581	.	.	ENSG00000170604	ENST00000302165	T	0.42900	0.96	4.1	3.07	0.35406	.	0.359428	0.20913	N	0.083422	T	0.23054	0.0557	L	0.43152	1.355	0.09310	N	0.999998	P	0.39862	0.692	B	0.22880	0.042	T	0.10590	-1.0623	10	0.21540	T	0.41	.	5.8903	0.18909	0.0:0.7011:0.195:0.1039	.	409	Q8IU81	I2BP1_HUMAN	S	409	ENSP00000307265:G409S	ENSP00000307265:G409S	G	-	1	0	IRF2BP1	51079648	0.000000	0.05858	0.035000	0.18076	0.020000	0.10135	-0.011000	0.12721	1.304000	0.44892	0.655000	0.94253	GGC		0.721	IRF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461683.1		NM_015649		10	53	0	0	0	0.008291	0	10	53		
ARHGAP35	2909	broad.mit.edu	37	19	47440647	47440647	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr19:47440647G>T	ENST00000404338.3	+	2	3808	c.3808G>T	c.(3808-3810)Gag>Tag	p.E1270*		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	1270	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)										AAGATGTATTGAGTACATTGA	0.433																																						uc010ekv.2		NaN																	0				central_nervous_system(1)	1						c.(3808-3810)GAG>TAG		glucocorticoid receptor DNA binding factor 1							97.0	90.0	92.0					19																	47440647		1858	4097	5955	SO:0001587	stop_gained	2909				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	g.chr19:47440647G>T	M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.3808G>T	19.37:g.47440647G>T	ENSP00000385720:p.Glu1270*						p.E1270*	NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN		all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289)	2	3808	+		all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077)	1270			Rho-GAP.		A7E2A4|Q14452|Q9C0E1	Nonsense_Mutation	SNP	ENST00000404338.3	37	c.3808G>T	CCDS46127.1	.	.	.	.	.	.	.	.	.	.	G	43	10.379841	0.99394	.	.	ENSG00000160007	ENST00000317082;ENST00000404338	.	.	.	6.04	6.04	0.98038	.	0.159198	0.56097	D	0.000028	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-37.405	19.3663	0.94464	0.0:0.0:1.0:0.0	.	.	.	.	X	1270	.	ENSP00000324820:E1270X	E	+	1	0	ARHGAP35	52132487	0.996000	0.38824	1.000000	0.80357	0.995000	0.86356	2.495000	0.45337	2.873000	0.98535	0.563000	0.77884	GAG		0.433	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1		NM_004491		16	65	1	0	2.94398e-08	0.007413	3.04451e-08	16	65		
PPFIA3	8541	broad.mit.edu	37	19	49649227	49649227	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr19:49649227G>T	ENST00000334186.4	+	22	3122	c.2773G>T	c.(2773-2775)Gag>Tag	p.E925*	PPFIA3_ENST00000602351.1_Nonsense_Mutation_p.E925*	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	925					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|presynaptic active zone (GO:0048786)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		GATGACACACGAGGAGATGGA	0.647											OREG0025618	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002pmr.2		NaN																	0				lung(1)	1						c.(2773-2775)GAG>TAG		PTPRF interacting protein alpha 3							121.0	108.0	112.0					19																	49649227		2203	4300	6503	SO:0001587	stop_gained	8541					cell surface|cytoplasm	protein binding	g.chr19:49649227G>T	AF034800	CCDS12758.1	19q13.33	2013-09-23			ENSG00000177380	ENSG00000177380		"""Sterile alpha motif (SAM) domain containing"""	9247	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3"", ""liprin-alpha 3"", ""liprin"""	603144				9624153, 9734811	Standard	NM_003660		Approved	KIAA0654, LPNA3, MGC126567, MGC126569	uc002pmr.3	O75145	OTTHUMG00000183213	ENST00000334186.4:c.2773G>T	19.37:g.49649227G>T	ENSP00000335614:p.Glu925*		OREG0025618	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	963	PPFIA3_uc010yai.1_RNA|PPFIA3_uc002pms.2_Nonsense_Mutation_p.E793*|PPFIA3_uc002pmt.2_Nonsense_Mutation_p.E73*|PPFIA3_uc002pmu.1_5'Flank	p.E925*	NM_003660	NP_003651	O75145	LIPA3_HUMAN		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)	22	3105	+		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	925					A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Nonsense_Mutation	SNP	ENST00000334186.4	37	c.2773G>T	CCDS12758.1	.	.	.	.	.	.	.	.	.	.	G	44	11.122124	0.99518	.	.	ENSG00000177380	ENST00000334186	.	.	.	4.99	4.99	0.66335	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-13.2306	17.9066	0.88920	0.0:0.0:1.0:0.0	.	.	.	.	X	925	.	ENSP00000335614:E925X	E	+	1	0	PPFIA3	54341039	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	9.591000	0.98241	2.699000	0.92147	0.557000	0.71058	GAG		0.647	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465688.1		NM_003660		24	130	1	0	1.64293e-13	0.01892	1.75026e-13	24	130		
MYBPC2	4606	broad.mit.edu	37	19	50939937	50939937	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr19:50939937G>C	ENST00000357701.5	+	5	460	c.409G>C	c.(409-411)Gag>Cag	p.E137Q		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	137	Ig-like C2-type 1.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		TTACCGCCTCGAGGTCAAAGC	0.612																																						uc002psf.2		NaN																	0				breast(1)	1						c.(409-411)GAG>CAG		myosin binding protein C, fast type							107.0	106.0	107.0					19																	50939937		2051	4177	6228	SO:0001583	missense	4606				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle	g.chr19:50939937G>C		CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7550	protein-coding gene	gene with protein product	"""fast-type muscle myosin-binding-protein C"""	160793	"""myosin-binding protein C, fast-type"""			8375400	Standard	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.409G>C	19.37:g.50939937G>C	ENSP00000350332:p.Glu137Gln						p.E137Q	NM_004533	NP_004524	Q14324	MYPC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)	5	460	+		all_neural(266;0.057)	137			Ig-like C2-type 1.		A1L4G9	Missense_Mutation	SNP	ENST00000357701.5	37	c.409G>C	CCDS46152.1	.	.	.	.	.	.	.	.	.	.	.	21.8	4.206980	0.79127	.	.	ENSG00000086967	ENST00000357701	T	0.65732	-0.17	3.24	3.24	0.37175	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.000000	0.33457	U	0.004888	T	0.76912	0.4054	M	0.81112	2.525	0.48571	D	0.999679	D	0.71674	0.998	D	0.70716	0.97	T	0.76623	-0.2891	10	0.28530	T	0.3	.	14.4405	0.67314	0.0:0.0:1.0:0.0	.	137	Q14324	MYPC2_HUMAN	Q	137	ENSP00000350332:E137Q	ENSP00000350332:E137Q	E	+	1	0	MYBPC2	55631749	1.000000	0.71417	0.945000	0.38365	0.881000	0.50899	8.441000	0.90313	2.142000	0.66516	0.450000	0.29827	GAG		0.612	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464751.1		NM_004533		24	115	0	0	0	0.021523	0	24	115		
ADAM17	6868	broad.mit.edu	37	2	9637283	9637283	+	Silent	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr2:9637283G>A	ENST00000310823.3	-	14	1925	c.1743C>T	c.(1741-1743)ttC>ttT	p.F581F		NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	581	Cys-rich.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell motility (GO:0048870)|collagen catabolic process (GO:0030574)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|germinal center formation (GO:0002467)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil mediated immunity (GO:0002446)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of chemokine production (GO:0032722)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|proteolysis (GO:0006508)|regulation of mast cell apoptotic process (GO:0033025)|response to drug (GO:0042493)|response to high density lipoprotein particle (GO:0055099)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|wound healing, spreading of epidermal cells (GO:0035313)	actin cytoskeleton (GO:0015629)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|interleukin-6 receptor binding (GO:0005138)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|Notch binding (GO:0005112)|PDZ domain binding (GO:0030165)|zinc ion binding (GO:0008270)			breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		CCCTCTCGCAGAAAGGGATGC	0.507																																						uc002qzu.2		NaN																	0				lung(1)|kidney(1)	2						c.(1741-1743)TTC>TTT		a disintegrin and metalloprotease domain 17							195.0	168.0	177.0					2																	9637283		2203	4300	6503	SO:0001819	synonymous_variant	6868				B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells	actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft	integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding	g.chr2:9637283G>A	U69611	CCDS1665.1	2p25	2010-08-05	2008-07-31		ENSG00000151694	ENSG00000151694		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	195	protein-coding gene	gene with protein product		603639	"""tumor necrosis factor, alpha, converting enzyme"""	TACE		9034190, 9574564	Standard	NM_003183		Approved	cSVP, CD156B	uc002qzu.3	P78536	OTTHUMG00000090425	ENST00000310823.3:c.1743C>T	2.37:g.9637283G>A						ADAM17_uc010ewy.2_Silent_p.F581F|ADAM17_uc010ewz.2_Intron	p.F581F	NM_003183	NP_003174	P78536	ADA17_HUMAN		Epithelial(75;0.225)	14	1926	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		581			Extracellular (Potential).|Cys-rich.		O60226	Silent	SNP	ENST00000310823.3	37	c.1743C>T	CCDS1665.1																																																																																				0.507	ADAM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206857.1				31	79	0	0	0	0.008361	0	31	79		
IFT172	26160	broad.mit.edu	37	2	27706492	27706492	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr2:27706492G>C	ENST00000260570.3	-	6	540	c.437C>G	c.(436-438)tCt>tGt	p.S146C	IFT172_ENST00000416524.2_Missense_Mutation_p.S125C|IFT172_ENST00000359466.6_Missense_Mutation_p.S146C	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	146					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					ATAGATGGTAGATGATTTATT	0.368																																						uc002rku.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.(436-438)TCT>TGT		selective LIM binding factor homolog							125.0	119.0	121.0					2																	27706492		2203	4300	6503	SO:0001583	missense	26160				cilium assembly	cilium	binding	g.chr2:27706492G>C	AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	30391	protein-coding gene	gene with protein product	"""wimple homolog"""	607386	"""intraflagellar transport 172 homolog (Chlamydomonas)"""			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.437C>G	2.37:g.27706492G>C	ENSP00000260570:p.Ser146Cys					IFT172_uc002rkw.2_Missense_Mutation_p.S146C|IFT172_uc010yls.1_Missense_Mutation_p.S125C|IFT172_uc010ezc.2_Missense_Mutation_p.S146C|IFT172_uc002rkv.2_Missense_Mutation_p.S146C	p.S146C	NM_015662	NP_056477	Q9UG01	IF172_HUMAN			6	488	-	Acute lymphoblastic leukemia(172;0.155)		146			WD 3.		A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Missense_Mutation	SNP	ENST00000260570.3	37	c.437C>G	CCDS1755.1	.	.	.	.	.	.	.	.	.	.	G	33	5.238931	0.95240	.	.	ENSG00000138002	ENST00000260570;ENST00000359466;ENST00000416524	T;T;T	0.66280	-0.2;-0.2;1.56	5.81	5.81	0.92471	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.80518	0.4638	M	0.80183	2.485	0.80722	D	1	D;D;D;D	0.76494	0.991;0.998;0.991;0.999	P;D;P;D	0.68353	0.76;0.951;0.827;0.957	T	0.81514	-0.0898	10	0.59425	D	0.04	-12.8883	18.6477	0.91416	0.0:0.0:1.0:0.0	.	146;146;146;146	A5PKZ0;Q9UG01-2;E7EP25;Q9UG01	.;.;.;IF172_HUMAN	C	146;146;125	ENSP00000260570:S146C;ENSP00000352443:S146C;ENSP00000407408:S125C	ENSP00000260570:S146C	S	-	2	0	IFT172	27559996	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	9.655000	0.98512	2.741000	0.93983	0.655000	0.94253	TCT		0.368	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2		NM_015662		16	47	0	0	0	0.00499	0	16	47		
SPTBN1	6711	broad.mit.edu	37	2	54870186	54870186	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr2:54870186C>G	ENST00000356805.4	+	19	4206	c.3925C>G	c.(3925-3927)Ctg>Gtg	p.L1309V	SPTBN1_ENST00000333896.5_Missense_Mutation_p.L1296V	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1309					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			AGCCAGAAATCTGCACAGTAA	0.413																																						uc002rxu.2		NaN																	0				ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8						c.(3925-3927)CTG>GTG		spectrin, beta, non-erythrocytic 1 isoform 1							111.0	110.0	110.0					2																	54870186		2203	4300	6503	SO:0001583	missense	6711				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54870186C>G		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.3925C>G	2.37:g.54870186C>G	ENSP00000349259:p.Leu1309Val					SPTBN1_uc002rxx.2_Missense_Mutation_p.L1296V	p.L1309V	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Lung(47;0.24)		19	4174	+			1309			Spectrin 10.		B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	37	c.3925C>G	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.545217	0.86022	.	.	ENSG00000115306	ENST00000356805;ENST00000333896	T;T	0.61392	0.11;0.11	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.76385	0.3980	M	0.81497	2.545	0.80722	D	1	P;P	0.45212	0.825;0.853	B;P	0.58266	0.365;0.836	T	0.74380	-0.3684	10	0.40728	T	0.16	.	19.8984	0.96975	0.0:1.0:0.0:0.0	.	1296;1309	Q01082-3;Q01082	.;SPTB2_HUMAN	V	1309;1296	ENSP00000349259:L1309V;ENSP00000334156:L1296V	ENSP00000334156:L1296V	L	+	1	2	SPTBN1	54723690	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	6.040000	0.70980	2.713000	0.92767	0.655000	0.94253	CTG		0.413	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3				18	92	0	0	0	0.00499	0	18	92		
LONRF2	164832	broad.mit.edu	37	2	100903457	100903457	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr2:100903457C>G	ENST00000393437.3	-	11	2628	c.1989G>C	c.(1987-1989)tgG>tgC	p.W663C	LONRF2_ENST00000409647.1_Missense_Mutation_p.W420C	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	663	Lon.						ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						GAGACGCGAACCAGGAAACAG	0.498																																						uc002tal.3		NaN																	0				large_intestine(1)|skin(1)	2						c.(1987-1989)TGG>TGC		LON peptidase N-terminal domain and ring finger							124.0	102.0	109.0					2																	100903457		2203	4300	6503	SO:0001583	missense	164832				proteolysis		ATP-dependent peptidase activity|zinc ion binding	g.chr2:100903457C>G	AK127206	CCDS2046.2	2q11.2	2013-01-09			ENSG00000170500	ENSG00000170500		"""RING-type (C3HC4) zinc fingers"""	24788	protein-coding gene	gene with protein product							Standard	NM_198461		Approved	FLJ45273, RNF192	uc002tal.4	Q1L5Z9	OTTHUMG00000130668	ENST00000393437.3:c.1989G>C	2.37:g.100903457C>G	ENSP00000377086:p.Trp663Cys					LONRF2_uc010yvs.1_RNA	p.W663C	NM_198461	NP_940863	Q1L5Z9	LONF2_HUMAN			11	2629	-			663			Lon.		B9A006|Q6ZSR4	Missense_Mutation	SNP	ENST00000393437.3	37	c.1989G>C	CCDS2046.2	.	.	.	.	.	.	.	.	.	.	C	22.3	4.265968	0.80358	.	.	ENSG00000170500	ENST00000393437;ENST00000409647	T;T	0.40756	1.02;1.02	4.95	4.95	0.65309	Peptidase S16, lon N-terminal (1);PUA-like domain (1);	0.000000	0.85682	D	0.000000	T	0.69196	0.3084	M	0.84948	2.725	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.74893	-0.3509	10	0.59425	D	0.04	-15.4923	18.2043	0.89850	0.0:1.0:0.0:0.0	.	663	Q1L5Z9	LONF2_HUMAN	C	663;420	ENSP00000377086:W663C;ENSP00000386823:W420C	ENSP00000377086:W663C	W	-	3	0	LONRF2	100269889	1.000000	0.71417	0.999000	0.59377	0.826000	0.46750	7.408000	0.80041	2.288000	0.76882	0.655000	0.94253	TGG		0.498	LONRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253161.2		NM_198461		10	67	0	0	0	0.006214	0	10	67		
ARHGEF4	50649	broad.mit.edu	37	2	131704110	131704110	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr2:131704110C>T	ENST00000326016.5	+	4	848	c.329C>T	c.(328-330)cCa>cTa	p.P110L	ARHGEF4_ENST00000409359.1_Missense_Mutation_p.P966L|ARHGEF4_ENST00000392953.3_Missense_Mutation_p.P110L|ARHGEF4_ENST00000428230.2_Missense_Mutation_p.P110L|ARHGEF4_ENST00000525839.1_Missense_Mutation_p.P110L|ARHGEF4_ENST00000409303.1_Missense_Mutation_p.P110L	NM_015320.2	NP_056135.2	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	110	ABR (APC-binding region) domain.				apoptotic signaling pathway (GO:0097190)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein domain specific binding (GO:0019904)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		ATTACCTCTCCAGAGTCTTTG	0.522																																						uc002tsa.1		NaN																	0				breast(3)|ovary(2)|skin(1)	6						c.(328-330)CCA>CTA		Rho guanine nucleotide exchange factor 4 isoform							128.0	129.0	129.0					2																	131704110		2203	4300	6503	SO:0001583	missense	50649				apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	protein domain specific binding|Rac guanyl-nucleotide exchange factor activity	g.chr2:131704110C>T	AL137289	CCDS2165.1, CCDS42754.1	2q22	2013-01-10			ENSG00000136002	ENSG00000136002		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	684	protein-coding gene	gene with protein product	"""APC-stimulated guanine nucleotide exchange factor"""	605216				10873612	Standard	NM_015320		Approved	STM6, KIAA1112, ASEF	uc002tsa.1	Q9NR80	OTTHUMG00000131657	ENST00000326016.5:c.329C>T	2.37:g.131704110C>T	ENSP00000316845:p.Pro110Leu					ARHGEF4_uc010fmw.1_Missense_Mutation_p.P756L|ARHGEF4_uc002tsb.1_Missense_Mutation_p.P110L|ARHGEF4_uc010fmx.1_Missense_Mutation_p.P110L|ARHGEF4_uc002trz.1_Missense_Mutation_p.P756L	p.P110L	NM_015320	NP_056135	Q9NR80	ARHG4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.097)	4	849	+		Prostate(154;0.055)	110			ABR (APC-binding region) domain.		Q9HDC6|Q9UPP0	Missense_Mutation	SNP	ENST00000326016.5	37	c.329C>T	CCDS2165.1	.	.	.	.	.	.	.	.	.	.	C	13.39	2.222355	0.39300	.	.	ENSG00000136002	ENST00000409359;ENST00000326016;ENST00000392953;ENST00000438985;ENST00000428230;ENST00000525839;ENST00000409303	T;T;T;T;T;T;T	0.78126	0.31;-0.8;-0.94;0.32;0.39;-0.94;-1.15	4.22	4.22	0.49857	.	.	.	.	.	T	0.80071	0.4556	L	0.29908	0.895	0.53005	D	0.999966	P;D;P;P	0.71674	0.608;0.998;0.728;0.608	B;D;B;B	0.68943	0.108;0.961;0.217;0.108	T	0.81883	-0.0728	9	0.87932	D	0	.	12.2951	0.54842	0.0:1.0:0.0:0.0	.	110;966;110;110	E9PEM0;E7EV07;Q9NR80-4;Q9NR80	.;.;.;ARHG4_HUMAN	L	966;110;110;290;110;110;110	ENSP00000386794:P966L;ENSP00000316845:P110L;ENSP00000376680:P110L;ENSP00000389661:P290L;ENSP00000398455:P110L;ENSP00000432267:P110L;ENSP00000387285:P110L	ENSP00000316845:P110L	P	+	2	0	ARHGEF4	131420580	1.000000	0.71417	0.994000	0.49952	0.481000	0.33189	2.677000	0.46892	2.350000	0.79820	0.655000	0.94253	CCA		0.522	ARHGEF4-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000254554.4				18	129	0	0	0	0.006122	0	18	129		
TTN	7273	broad.mit.edu	37	2	179666927	179666927	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr2:179666927T>C	ENST00000591111.1	-	3	457	c.233A>G	c.(232-234)tAt>tGt	p.Y78C	TTN_ENST00000360870.5_Missense_Mutation_p.Y78C|TTN_ENST00000589042.1_Missense_Mutation_p.Y78C|TTN_ENST00000342992.6_Missense_Mutation_p.Y78C|TTN_ENST00000342175.6_Missense_Mutation_p.Y78C|TTN_ENST00000359218.5_Missense_Mutation_p.Y78C|TTN_ENST00000460472.2_Missense_Mutation_p.Y78C			Q8WZ42	TITIN_HUMAN	titin	32690	Ig-like 1.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCAGGGAATATCGTCCACT	0.562																																						uc002und.2		NaN																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(232-234)TAT>TGT		Homo sapiens cDNA FLJ32040 fis, clone NTONG2000858, highly similar to H.sapiens mRNA for titin protein.							170.0	153.0	159.0					2																	179666927		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179666927T>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.233A>G	2.37:g.179666927T>C	ENSP00000465570:p.Tyr78Cys					TTN_uc010zfg.1_Missense_Mutation_p.Y78C|TTN_uc010zfh.1_Missense_Mutation_p.Y78C|TTN_uc010zfi.1_Missense_Mutation_p.Y78C|TTN_uc010zfj.1_Missense_Mutation_p.Y78C|TTN_uc002unb.2_Missense_Mutation_p.Y78C	p.Y78C			Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		3	458	-			78					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.233A>G		.	.	.	.	.	.	.	.	.	.	T	12.05	1.821243	0.32237	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28;-1.28	5.74	3.26	0.37387	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.93877	0.8041	H	0.99752	4.75	0.30494	N	0.771052	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.72338	0.977;0.977;0.977;0.977;0.975	D	0.90640	0.4574	9	0.87932	D	0	.	10.9444	0.47292	0.2501:0.0:0.0:0.7499	.	78;78;78;78;78	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	C	78	ENSP00000343764:Y78C;ENSP00000434586:Y78C;ENSP00000340554:Y78C;ENSP00000352154:Y78C;ENSP00000354117:Y78C	ENSP00000340554:Y78C	Y	-	2	0	TTN	179375172	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.263000	0.51546	0.389000	0.25086	0.533000	0.62120	TAT		0.562	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		21	108	0	0	0	0.01892	0	21	108		
MFF	56947	broad.mit.edu	37	2	228195544	228195544	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr2:228195544G>A	ENST00000353339.3	+	4	682	c.241G>A	c.(241-243)Gag>Aag	p.E81K	MFF_ENST00000304593.9_Missense_Mutation_p.E55K|MFF_ENST00000354503.6_Missense_Mutation_p.E55K|MFF_ENST00000392059.1_Missense_Mutation_p.E81K|MFF_ENST00000337110.7_Missense_Mutation_p.E55K|MFF_ENST00000476924.1_Intron|MFF_ENST00000349901.7_Missense_Mutation_p.E55K|MFF_ENST00000524634.1_Intron|MFF_ENST00000409616.1_Missense_Mutation_p.E55K|MFF_ENST00000409565.1_Missense_Mutation_p.E55K	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	81					mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial fusion (GO:0008053)|mitochondrion morphogenesis (GO:0070584)|peroxisome fission (GO:0016559)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homooligomerization (GO:0051260)|protein targeting to mitochondrion (GO:0006626)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|integral component of mitochondrial membrane (GO:0032592)|mitochondrial outer membrane (GO:0005741)|peroxisome (GO:0005777)|synapse (GO:0045202)	protein homodimerization activity (GO:0042803)			breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						GCAAGTTCCGGAGAGGATTGT	0.388																																						uc002vos.2		NaN																	0				large_intestine(1)	1						c.(241-243)GAG>AAG		mitochondrial fission factor							83.0	75.0	78.0					2																	228195544		2203	4300	6503	SO:0001583	missense	56947					integral to membrane|mitochondrial outer membrane		g.chr2:228195544G>A	AF258660	CCDS2465.1, CCDS63139.1, CCDS63140.1, CCDS63141.1, CCDS63142.1, CCDS74662.1	2q36	2008-05-29	2008-05-29	2008-05-29	ENSG00000168958	ENSG00000168958			24858	protein-coding gene	gene with protein product		614785	"""chromosome 2 open reading frame 33"""	C2orf33		18353969	Standard	NM_001277061		Approved	GL004	uc002voy.4	Q9GZY8	OTTHUMG00000133180	ENST00000353339.3:c.241G>A	2.37:g.228195544G>A	ENSP00000302037:p.Glu81Lys					MFF_uc002vot.2_Missense_Mutation_p.E55K|MFF_uc002vou.2_Missense_Mutation_p.E81K|MFF_uc002vov.2_Missense_Mutation_p.E55K|MFF_uc002vow.2_Missense_Mutation_p.E55K|MFF_uc002vox.2_Missense_Mutation_p.E55K|MFF_uc002voy.2_Missense_Mutation_p.E81K|MFF_uc002voz.2_Missense_Mutation_p.E55K	p.E81K	NM_020194	NP_064579	Q9GZY8	MFF_HUMAN			4	659	+			81			Cytoplasmic (Potential).		Q567U1|Q658R6|Q9BVZ1|Q9H690|Q9NRG8	Missense_Mutation	SNP	ENST00000353339.3	37	c.241G>A	CCDS2465.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.433020	0.83776	.	.	ENSG00000168958	ENST00000304593;ENST00000353339;ENST00000354503;ENST00000409565;ENST00000452930;ENST00000409616;ENST00000337110;ENST00000349901;ENST00000418961;ENST00000392059	T;T	0.48522	0.81;0.81	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.62171	0.2406	M	0.71036	2.16	0.80722	D	1	B;B;B;B;P;P	0.49447	0.028;0.171;0.011;0.006;0.885;0.924	B;B;B;B;B;P	0.50617	0.052;0.126;0.015;0.012;0.382;0.646	T	0.64854	-0.6309	10	0.72032	D	0.01	-1.5551	20.063	0.97692	0.0:0.0:1.0:0.0	.	55;55;55;55;55;81	Q9GZY8-4;Q9GZY8-3;Q9GZY8-5;C9JHF5;Q9GZY8-2;Q9GZY8	.;.;.;.;.;MFF_HUMAN	K	55;81;55;55;55;55;55;55;55;81	ENSP00000302037:E81K;ENSP00000375912:E81K	ENSP00000304898:E55K	E	+	1	0	MFF	227903788	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.441000	0.97557	2.741000	0.93983	0.650000	0.86243	GAG		0.388	MFF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256887.2		NM_020194		9	29	0	0	0	0.006214	0	9	29		
TRIB3	57761	broad.mit.edu	37	20	377161	377161	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr20:377161G>A	ENST00000217233.3	+	4	1457	c.904G>A	c.(904-906)Gaa>Aaa	p.E302K	TRIB3_ENST00000422053.2_Missense_Mutation_p.E329K	NM_021158.3	NP_066981.2	Q96RU7	TRIB3_HUMAN	tribbles pseudokinase 3	302	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of protein binding (GO:0032092)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein phosphorylation (GO:0006468)|regulation of glucose transport (GO:0010827)|regulation of MAP kinase activity (GO:0043405)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)|transcription corepressor activity (GO:0003714)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase regulator activity (GO:0055106)			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|skin(1)	21		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)		GGAGCCAGCTGAACGGCTCAC	0.687																																					Melanoma(101;421 2374 19538)	uc002wdm.2		NaN																	0				central_nervous_system(2)	2						c.(904-906)GAA>AAA		tribbles 3							44.0	43.0	43.0					20																	377161		2200	4294	6494	SO:0001583	missense	57761				apoptosis|cellular lipid metabolic process|insulin receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fatty acid biosynthetic process|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein binding|positive regulation of ubiquitin-protein ligase activity|regulation of glucose transport|regulation of MAP kinase activity|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|protein kinase activity|protein kinase binding|protein kinase inhibitor activity|transcription corepressor activity|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity	g.chr20:377161G>A	AF250311	CCDS12997.1	20p13-p12.2	2013-10-03	2013-10-03	2004-05-04	ENSG00000101255	ENSG00000101255			16228	protein-coding gene	gene with protein product		607898	"""chromosome 20 open reading frame 97"", ""tribbles homolog 3 (Drosophila)"""	C20orf97		12791994, 16715410	Standard	XM_005260773		Approved	dJ1103G7.3, TRB3	uc002wdm.3	Q96RU7	OTTHUMG00000031627	ENST00000217233.3:c.904G>A	20.37:g.377161G>A	ENSP00000217233:p.Glu302Lys					TRIB3_uc002wdn.2_Missense_Mutation_p.E329K	p.E302K	NM_021158	NP_066981	Q96RU7	TRIB3_HUMAN		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)	4	1410	+		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)	302			Protein kinase.		Q53GU4|Q53ZW7|Q6I9Y9|Q8TAI6|Q9H5M8|Q9NUD2	Missense_Mutation	SNP	ENST00000217233.3	37	c.904G>A	CCDS12997.1	.	.	.	.	.	.	.	.	.	.	G	33	5.215531	0.95104	.	.	ENSG00000101255	ENST00000217233;ENST00000422053	T;T	0.62788	-0.0;-0.0	5.22	5.22	0.72569	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.131525	0.35179	N	0.003397	T	0.69522	0.3120	L	0.39514	1.22	0.80722	D	1	D;D	0.76494	0.999;0.996	D;P	0.64237	0.923;0.894	T	0.65865	-0.6064	10	0.33141	T	0.24	-19.3136	16.3234	0.82961	0.0:0.0:1.0:0.0	.	329;302	B4DMM9;Q96RU7	.;TRIB3_HUMAN	K	302;329	ENSP00000217233:E302K;ENSP00000415416:E329K	ENSP00000217233:E302K	E	+	1	0	TRIB3	325161	1.000000	0.71417	0.840000	0.33206	0.910000	0.53928	7.744000	0.85034	2.712000	0.92718	0.650000	0.86243	GAA		0.687	TRIB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077441.2		NM_021158		17	101	0	0	0	0.00499	0	17	101		
KIF16B	55614	broad.mit.edu	37	20	16360474	16360474	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr20:16360474G>A	ENST00000354981.2	-	19	2330	c.2173C>T	c.(2173-2175)Cag>Tag	p.Q725*	KIF16B_ENST00000408042.1_Nonsense_Mutation_p.Q725*|KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000355755.3_Nonsense_Mutation_p.Q725*	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	725	Glu-rich.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TGAAATATCTGAAACTTCTCA	0.443																																						uc002wpg.1		NaN																	0				skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1)	8						c.(2173-2175)CAG>TAG		kinesin-like motor protein C20orf23							151.0	141.0	145.0					20																	16360474		2203	4300	6503	SO:0001587	stop_gained	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16360474G>A	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.2173C>T	20.37:g.16360474G>A	ENSP00000347076:p.Gln725*					KIF16B_uc002wpe.1_Nonsense_Mutation_p.Q107*|KIF16B_uc002wpf.1_Nonsense_Mutation_p.Q107*|KIF16B_uc010gch.1_Nonsense_Mutation_p.Q725*|KIF16B_uc010gci.1_Nonsense_Mutation_p.Q725*|KIF16B_uc010gcj.1_Nonsense_Mutation_p.Q736*	p.Q725*	NM_024704	NP_078980	Q96L93	KI16B_HUMAN			19	2331	-			725			Glu-rich.|Potential.		A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Nonsense_Mutation	SNP	ENST00000354981.2	37	c.2173C>T	CCDS13122.1	.	.	.	.	.	.	.	.	.	.	G	36	5.772040	0.96922	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000408042	.	.	.	5.28	4.31	0.51392	.	0.263567	0.37857	N	0.001903	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	13.898	0.63785	0.0:0.2913:0.7087:0.0	.	.	.	.	X	725	.	ENSP00000347076:Q725X	Q	-	1	0	KIF16B	16308474	1.000000	0.71417	0.043000	0.18650	0.665000	0.39181	3.536000	0.53582	1.177000	0.42855	0.655000	0.94253	CAG		0.443	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2		NM_017683		29	108	0	0	0	0.008361	0	29	108		
MYT1	4661	broad.mit.edu	37	20	62836958	62836958	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr20:62836958G>A	ENST00000328439.1	+	6	566	c.202G>A	c.(202-204)Gag>Aag	p.E68K	MYT1_ENST00000360149.4_Missense_Mutation_p.E68K|MYT1_ENST00000536311.1_Missense_Mutation_p.E68K	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0	Pro-rich.				G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CGCTGAGGCTGAGCACCTGGT	0.622																																					GBM(59;481 1041 20555 21139 33705)	uc002yii.2		NaN																	0				ovary(2)	2						c.(202-204)GAG>AAG		myelin transcription factor 1							84.0	75.0	78.0					20																	62836958		2203	4300	6503	SO:0001583	missense	4661				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62836958G>A	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.202G>A	20.37:g.62836958G>A	ENSP00000327465:p.Glu68Lys					MYT1_uc002yih.2_Missense_Mutation_p.E68K|MYT1_uc002yij.2_5'Flank	p.E68K	NM_004535	NP_004526	Q01538	MYT1_HUMAN			6	566	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		68					B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	ENST00000328439.1	37	c.202G>A	CCDS13558.1	.	.	.	.	.	.	.	.	.	.	G	15.29	2.790946	0.50102	.	.	ENSG00000196132	ENST00000360149;ENST00000328439;ENST00000536311	T;T;T	0.49139	0.8;0.8;0.79	5.58	4.63	0.57726	.	0.204073	0.41294	D	0.000914	T	0.56659	0.2000	M	0.61703	1.905	0.30713	N	0.749083	P;P	0.50943	0.666;0.94	B;P	0.55508	0.162;0.777	T	0.57757	-0.7756	10	0.08599	T	0.76	-21.8599	16.2193	0.82247	0.0:0.1466:0.8534:0.0	.	68;68	Q01538;Q6P6D5	MYT1_HUMAN;.	K	68	ENSP00000353269:E68K;ENSP00000327465:E68K;ENSP00000442412:E68K	ENSP00000327465:E68K	E	+	1	0	MYT1	62307402	1.000000	0.71417	0.999000	0.59377	0.928000	0.56348	7.663000	0.83820	1.332000	0.45431	0.655000	0.94253	GAG		0.622	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1		NM_004535		15	74	0	0	0	0.028581	0	15	74		
KRTAP26-1	388818	broad.mit.edu	37	21	31691783	31691783	+	Missense_Mutation	SNP	T	T	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr21:31691783T>A	ENST00000360542.3	-	1	824	c.571A>T	c.(571-573)Agt>Tgt	p.S191C		NM_203405.1	NP_981950.1	Q6PEX3	KR261_HUMAN	keratin associated protein 26-1	191						intermediate filament (GO:0005882)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						TGGCAACCACTGAACAGAGGC	0.532																																						uc002ynw.2		NaN																	0				ovary(1)	1						c.(571-573)AGT>TGT		keratin associated protein 26-1							157.0	164.0	161.0					21																	31691783		2203	4300	6503	SO:0001583	missense	388818					intermediate filament		g.chr21:31691783T>A	AB096936	CCDS13588.1	21q22.11	2007-11-23			ENSG00000197683	ENSG00000197683		"""Keratin associated proteins"""	33760	protein-coding gene	gene with protein product							Standard	NM_203405		Approved		uc002ynw.3	Q6PEX3	OTTHUMG00000057766	ENST00000360542.3:c.571A>T	21.37:g.31691783T>A	ENSP00000353742:p.Ser191Cys						p.S191C	NM_203405	NP_981950	Q6PEX3	KR261_HUMAN			1	825	-			191					B0RZD3	Missense_Mutation	SNP	ENST00000360542.3	37	c.571A>T	CCDS13588.1	.	.	.	.	.	.	.	.	.	.	T	15.82	2.944948	0.53079	.	.	ENSG00000197683	ENST00000360542	T	0.16324	2.35	5.06	-10.1	0.00402	.	1.154450	0.06272	N	0.695849	T	0.20981	0.0505	L	0.45137	1.4	0.09310	N	1	D	0.58620	0.983	P	0.57371	0.819	T	0.47812	-0.9088	10	0.56958	D	0.05	1.3406	8.1385	0.31069	0.102:0.5604:0.104:0.2336	.	191	Q6PEX3	KR261_HUMAN	C	191	ENSP00000353742:S191C	ENSP00000353742:S191C	S	-	1	0	KRTAP26-1	30613654	0.000000	0.05858	0.000000	0.03702	0.131000	0.20780	-1.689000	0.01923	-2.542000	0.00485	-0.297000	0.09499	AGT		0.532	KRTAP26-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128218.1		NM_203405		54	314	0	0	0	0.01441	0	54	314		
HUNK	30811	broad.mit.edu	37	21	33371331	33371331	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr21:33371331G>A	ENST00000270112.2	+	11	2339	c.1979G>A	c.(1978-1980)cGa>cAa	p.R660Q		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	660					multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						GTGAAAAGCCGAGGCCGGTTC	0.612																																						uc002yph.2		NaN																	0				stomach(1)|skin(1)	2						c.(1978-1980)CGA>CAA		hormonally upregulated Neu-associated kinase							44.0	49.0	47.0					21																	33371331		2203	4300	6503	SO:0001583	missense	30811				multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity	g.chr21:33371331G>A	AJ271722	CCDS13610.1	21q22.1	2008-06-05	2008-06-05		ENSG00000142149	ENSG00000142149			13326	protein-coding gene	gene with protein product		606532	"""hormonally upregulated Neu-associated kinase"""			10662544, 10830953	Standard	NM_014586		Approved		uc002yph.3	P57058	OTTHUMG00000085019	ENST00000270112.2:c.1979G>A	21.37:g.33371331G>A	ENSP00000270112:p.Arg660Gln						p.R660Q	NM_014586	NP_055401	P57058	HUNK_HUMAN			11	2339	+			660						Missense_Mutation	SNP	ENST00000270112.2	37	c.1979G>A	CCDS13610.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.257864	0.80246	.	.	ENSG00000142149	ENST00000270112	T	0.78003	-1.14	4.42	4.42	0.53409	.	0.000000	0.64402	D	0.000002	T	0.82015	0.4945	L	0.29908	0.895	0.46823	D	0.999217	D	0.76494	0.999	D	0.72625	0.978	D	0.84986	0.0891	10	0.87932	D	0	-6.911	17.2387	0.87007	0.0:0.0:1.0:0.0	.	660	P57058	HUNK_HUMAN	Q	660	ENSP00000270112:R660Q	ENSP00000270112:R660Q	R	+	2	0	HUNK	32293202	1.000000	0.71417	0.984000	0.44739	0.621000	0.37620	6.175000	0.71949	2.286000	0.76751	0.591000	0.81541	CGA		0.612	HUNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192782.1		NM_014586		16	97	0	0	0	0.024245	0	16	97		
AGPAT3	56894	broad.mit.edu	37	21	45389127	45389127	+	Silent	SNP	G	G	A	rs115875072	byFrequency	TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr21:45389127G>A	ENST00000398063.2	+	4	969	c.477G>A	c.(475-477)ctG>ctA	p.L159L	AGPAT3_ENST00000398058.1_Silent_p.L159L|AGPAT3_ENST00000291572.8_Silent_p.L159L|AGPAT3_ENST00000327505.2_Silent_p.L159L|AGPAT3_ENST00000546158.1_Silent_p.L159L|AGPAT3_ENST00000479117.1_3'UTR|AGPAT3_ENST00000398061.1_Silent_p.L159L	NM_001037553.1	NP_001032642.1	Q9NRZ7	PLCC_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 3	159					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		TCGAAGGGCTGAGGCGCCTGT	0.632													G|||	7	0.00139776	0.0053	0.0	5008	,	,		20240	0.0		0.0	False		,,,				2504	0.0				Pancreas(60;623 1650 5574 52796)	uc002zdv.2		NaN																	0					0						c.(475-477)CTG>CTA		1-acylglycerol-3-phosphate O-acyltransferase 3		G	,	8,4398	14.3+/-33.2	0,8,2195	141.0	126.0	131.0		477,477	2.7	0.7	21	dbSNP_132	131	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	AGPAT3	NM_001037553.1,NM_020132.4	,	0,8,6495	AA,AG,GG		0.0,0.1816,0.0615	,	159/377,159/377	45389127	8,12998	2203	4300	6503	SO:0001819	synonymous_variant	56894				phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	g.chr21:45389127G>A	AF156774	CCDS13703.1	21q22.3	2013-02-05			ENSG00000160216	ENSG00000160216	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	326	protein-coding gene	gene with protein product		614794					Standard	XM_005261159		Approved	LPAAT-gamma	uc002zdw.3	Q9NRZ7	OTTHUMG00000086892	ENST00000398063.2:c.477G>A	21.37:g.45389127G>A						AGPAT3_uc002zdw.2_Silent_p.L159L|AGPAT3_uc002zdx.2_Silent_p.L246L|AGPAT3_uc002zdy.2_Silent_p.L97L	p.L159L	NM_020132	NP_064517	Q9NRZ7	PLCC_HUMAN		STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)	5	699	+			159			Lumenal (Potential).		D3DSL2|Q3ZCU2|Q6UWP6|Q6ZUC6|Q8N3Q7|Q9NRZ6	Silent	SNP	ENST00000398063.2	37	c.477G>A	CCDS13703.1																																																																																				0.632	AGPAT3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195722.1		NM_020132		29	86	0	0	0	0.008361	0	29	86		
ARVCF	421	broad.mit.edu	37	22	19960805	19960805	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr22:19960805G>A	ENST00000263207.3	-	14	2566	c.2275C>T	c.(2275-2277)Cgc>Tgc	p.R759C	ARVCF_ENST00000401994.1_Missense_Mutation_p.R696C|ARVCF_ENST00000406259.1_Missense_Mutation_p.R753C|ARVCF_ENST00000406522.1_Missense_Mutation_p.R690C|ARVCF_ENST00000344269.3_Missense_Mutation_p.R696C	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	759					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					TGTGCATTGCGCACATTCCGC	0.637																																						uc002zqz.2		NaN																	0				liver(1)	1						c.(2275-2277)CGC>TGC		armadillo repeat protein							24.0	22.0	23.0					22																	19960805		2200	4295	6495	SO:0001583	missense	421				cell adhesion|multicellular organismal development		protein binding	g.chr22:19960805G>A		CCDS13771.1	22q11.21	2013-02-14	2010-04-28		ENSG00000099889	ENSG00000099889		"""Armadillo repeat containing"""	728	protein-coding gene	gene with protein product		602269				9126485, 15456900	Standard	NM_001670		Approved		uc002zqz.3	O00192	OTTHUMG00000030426	ENST00000263207.3:c.2275C>T	22.37:g.19960805G>A	ENSP00000263207:p.Arg759Cys					ARVCF_uc002zqy.2_Missense_Mutation_p.R275C	p.R759C	NM_001670	NP_001661	O00192	ARVC_HUMAN			14	2546	-	Colorectal(54;0.0993)		759			ARM 9.		B7WNV2	Missense_Mutation	SNP	ENST00000263207.3	37	c.2275C>T	CCDS13771.1	.	.	.	.	.	.	.	.	.	.	G	18.38	3.611500	0.66558	.	.	ENSG00000099889	ENST00000263207;ENST00000344269;ENST00000401994;ENST00000406522;ENST00000406259	T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74	4.34	4.34	0.51931	Armadillo-like helical (1);Armadillo-type fold (1);	0.058651	0.64402	D	0.000002	T	0.49712	0.1573	L	0.38175	1.15	0.58432	D	0.999998	D;D	0.69078	0.972;0.997	P;P	0.53360	0.453;0.724	T	0.44283	-0.9338	9	.	.	.	-11.4127	16.1584	0.81681	0.0:0.0:1.0:0.0	.	759;275	O00192;E7EV58	ARVC_HUMAN;.	C	759;696;696;690;753	ENSP00000263207:R759C;ENSP00000342042:R696C;ENSP00000384341:R696C;ENSP00000384732:R690C;ENSP00000385444:R753C	.	R	-	1	0	ARVCF	18340805	1.000000	0.71417	0.989000	0.46669	0.119000	0.20118	9.085000	0.94083	2.416000	0.81992	0.561000	0.74099	CGC		0.637	ARVCF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075314.5		NM_001670		5	20	0	0	0	0.014758	0	5	20		
MYO18B	84700	broad.mit.edu	37	22	26193971	26193971	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr22:26193971A>G	ENST00000407587.2	+	12	2597	c.2428A>G	c.(2428-2430)Atg>Gtg	p.M810V	MYO18B_ENST00000335473.7_Missense_Mutation_p.M810V|MYO18B_ENST00000536101.1_Missense_Mutation_p.M810V			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	810	Myosin motor.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CCAGGGTGCCATGGAGATGCT	0.617																																						uc003abz.1		NaN																	0				ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						c.(2428-2430)ATG>GTG		myosin XVIIIB																																				SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26193971A>G	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.2428A>G	22.37:g.26193971A>G	ENSP00000386096:p.Met810Val					MYO18B_uc003aca.1_Missense_Mutation_p.M691V|MYO18B_uc010guy.1_Missense_Mutation_p.M691V|MYO18B_uc010guz.1_Missense_Mutation_p.M691V|MYO18B_uc011aka.1_Intron|MYO18B_uc011akb.1_Missense_Mutation_p.M323V	p.M810V	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN			12	2678	+			810			Myosin head-like.		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.2428A>G		.	.	.	.	.	.	.	.	.	.	A	11.41	1.631420	0.28978	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	T;T;T	0.74315	-0.83;-0.83;-0.83	5.43	4.38	0.52667	Myosin head, motor domain (2);	0.042542	0.85682	D	0.000000	D	0.82898	0.5137	M	0.93062	3.375	0.37003	D	0.895346	B;P;B;P	0.39717	0.353;0.684;0.433;0.634	B;P;B;B	0.45753	0.214;0.492;0.164;0.36	D	0.86538	0.1826	10	0.87932	D	0	.	10.7342	0.46115	0.8399:0.1601:0.0:0.0	.	323;810;810;810	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	V	810	ENSP00000441229:M810V;ENSP00000334563:M810V;ENSP00000386096:M810V	ENSP00000334563:M810V	M	+	1	0	MYO18B	24523971	1.000000	0.71417	1.000000	0.80357	0.026000	0.11368	5.401000	0.66326	0.876000	0.35872	0.533000	0.62120	ATG		0.617	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1		NM_032608		6	128	0	0	0	0.021553	0	6	128		
TMPRSS6	164656	broad.mit.edu	37	22	37465272	37465272	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr22:37465272C>G	ENST00000346753.3	-	16	2097	c.1981G>C	c.(1981-1983)Gaa>Caa	p.E661Q	TMPRSS6_ENST00000381792.2_Missense_Mutation_p.E652Q|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.E652Q|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.E652Q	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	661	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						CTGTCCTCTTCGTGGTACGGG	0.692																																						uc003aqs.1		NaN																	0				breast(4)|ovary(1)|skin(1)	6						c.(1981-1983)GAA>CAA		transmembrane protease, serine 6							42.0	41.0	42.0					22																	37465272		2201	4298	6499	SO:0001583	missense	164656				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity	g.chr22:37465272C>G	AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"""Serine peptidases / Transmembrane"""	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.1981G>C	22.37:g.37465272C>G	ENSP00000334962:p.Glu661Gln					TMPRSS6_uc003aqt.1_Missense_Mutation_p.E652Q	p.E661Q	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN			16	2095	-			661			Peptidase S1.|Extracellular (Potential).		B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Missense_Mutation	SNP	ENST00000346753.3	37	c.1981G>C	CCDS13941.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.035371	0.75617	.	.	ENSG00000187045	ENST00000381792;ENST00000346753;ENST00000406725;ENST00000406856	D;D;D;D	0.92805	-3.11;-3.11;-3.11;-3.11	4.83	4.83	0.62350	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.132665	0.49305	D	0.000146	D	0.91918	0.7441	N	0.12527	0.23	0.47547	D	0.999456	D;D	0.89917	0.998;1.0	D;D	0.74023	0.911;0.982	D	0.93897	0.7185	10	0.62326	D	0.03	.	17.9247	0.88979	0.0:1.0:0.0:0.0	.	652;661	Q8IU80-5;Q8IU80	.;TMPS6_HUMAN	Q	652;661;652;652	ENSP00000371211:E652Q;ENSP00000334962:E661Q;ENSP00000385453:E652Q;ENSP00000384964:E652Q	ENSP00000334962:E661Q	E	-	1	0	TMPRSS6	35795218	1.000000	0.71417	0.996000	0.52242	0.571000	0.35966	4.795000	0.62489	2.215000	0.71742	0.561000	0.74099	GAA		0.692	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318822.1		NM_153609		4	21	0	0	0	0.014758	0	4	21		
PICK1	9463	broad.mit.edu	37	22	38470962	38470962	+	Silent	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr22:38470962C>G	ENST00000404072.3	+	13	1418	c.1071C>G	c.(1069-1071)gtC>gtG	p.V357V	RP5-1039K5.13_ENST00000445483.1_RNA|PICK1_ENST00000356976.3_Silent_p.V357V	NM_001039583.1|NM_001039584.1	NP_001034672.1|NP_001034673.1	Q9NRD5	PICK1_HUMAN	protein interacting with PRKCA 1	357	AH. {ECO:0000255|PROSITE- ProRule:PRU00294}.				ATP catabolic process (GO:0006200)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|dendritic spine maintenance (GO:0097062)|dendritic spine organization (GO:0097061)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|glial cell development (GO:0021782)|long term synaptic depression (GO:0060292)|monoamine transport (GO:0015844)|negative regulation of Arp2/3 complex-mediated actin nucleation (GO:0034316)|neuronal ion channel clustering (GO:0045161)|positive regulation of receptor internalization (GO:0002092)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|protein targeting (GO:0006605)|receptor clustering (GO:0043113)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endocytic vesicle membrane (GO:0030666)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	actin filament binding (GO:0051015)|Arp2/3 complex binding (GO:0071933)|ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein kinase C binding (GO:0005080)|receptor binding (GO:0005102)			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	Melanoma(58;0.045)					ATGCCGACGTCTTCCCCATCG	0.607																																						uc003auq.2		NaN																	0					0						c.(1069-1071)GTC>GTG		protein interacting with C kinase 1							107.0	74.0	85.0					22																	38470962		2203	4300	6503	SO:0001819	synonymous_variant	9463				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission	cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane	ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding	g.chr22:38470962C>G	AL049654	CCDS13965.1	22q13.1	2006-02-14	2006-02-14	2006-02-14	ENSG00000100151	ENSG00000100151			9394	protein-coding gene	gene with protein product		605926	"""protein kinase C, alpha binding protein"", ""protein interacting with PRKCA"""	PRKCABP		10340301, 10591208	Standard	XM_006724377		Approved	dJ1039K5, MGC15204	uc003aus.3	Q9NRD5	OTTHUMG00000151159	ENST00000404072.3:c.1071C>G	22.37:g.38470962C>G						PICK1_uc003aur.2_Silent_p.V357V|PICK1_uc003aus.2_Silent_p.V357V|PICK1_uc003aut.2_Silent_p.V357V	p.V357V	NM_012407	NP_036539	Q9NRD5	PICK1_HUMAN			13	1461	+	Melanoma(58;0.045)		357			AH.		B3KS52|O95906	Silent	SNP	ENST00000404072.3	37	c.1071C>G	CCDS13965.1																																																																																				0.607	PICK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321569.2		NM_012407		16	59	0	0	0	0.024245	0	16	59		
CACNA1I	8911	broad.mit.edu	37	22	40030684	40030684	+	Missense_Mutation	SNP	C	C	A	rs61417992		TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr22:40030684C>A	ENST00000402142.3	+	5	695	c.695C>A	c.(694-696)gCg>gAg	p.A232E	CACNA1I_ENST00000401624.1_Missense_Mutation_p.A232E|CACNA1I_ENST00000400164.3_Missense_Mutation_p.A232E|CACNA1I_ENST00000336649.4_Missense_Mutation_p.A232E|CACNA1I_ENST00000404898.1_Missense_Mutation_p.A232E|CACNA1I_ENST00000407673.1_Missense_Mutation_p.A232E	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	232					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	CAGCTCTGGGCGGGCCTGCTG	0.562																																						uc003ayc.2		NaN																	0				breast(1)|central_nervous_system(1)	2						c.(694-696)GCG>GAG		calcium channel, voltage-dependent, T type,	Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)																																			SO:0001583	missense	8911				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	g.chr22:40030684C>A	AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.695C>A	22.37:g.40030684C>A	ENSP00000385019:p.Ala232Glu					CACNA1I_uc003ayd.2_Missense_Mutation_p.A232E|CACNA1I_uc003aye.2_Missense_Mutation_p.A147E|CACNA1I_uc003ayf.2_Missense_Mutation_p.A147E	p.A232E	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN			5	695	+	Melanoma(58;0.0749)		232			I.|Helical; Name=S5 of repeat I; (Potential).		B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	ENST00000402142.3	37	c.695C>A	CCDS46710.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.224904	0.79576	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.97352	-4.35;-4.35;-4.35;-4.35;-4.35;-4.35	5.52	5.52	0.82312	Ion transport (1);	0.315897	0.32231	N	0.006385	D	0.97986	0.9337	L	0.60845	1.875	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.99;0.992;0.99;0.999	D	0.97784	1.0234	10	0.39692	T	0.17	.	19.4255	0.94740	0.0:1.0:0.0:0.0	.	232;232;232;232	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	E	232	ENSP00000385019:A232E;ENSP00000384093:A232E;ENSP00000383887:A232E;ENSP00000385680:A232E;ENSP00000337829:A232E;ENSP00000383028:A232E	ENSP00000337829:A232E	A	+	2	0	CACNA1I	38360630	1.000000	0.71417	0.956000	0.39512	0.657000	0.38888	7.487000	0.81328	2.588000	0.87417	0.655000	0.94253	GCG		0.562	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1		NM_001003406		21	134	1	0	3.62473e-10	0.012319	3.80417e-10	21	134		
ZNF660	285349	broad.mit.edu	37	3	44635868	44635868	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr3:44635868G>C	ENST00000322734.2	+	3	516	c.183G>C	c.(181-183)caG>caC	p.Q61H	RP11-944L7.4_ENST00000457331.1_RNA	NM_173658.2	NP_775929.2	Q6AZW8	ZN660_HUMAN	zinc finger protein 660	61					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(2)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		CCTTTAGTCAGAGTGCAAACC	0.438																																						uc003cnl.1		NaN																	0					0						c.(181-183)CAG>CAC		zinc finger protein 660							101.0	98.0	99.0					3																	44635868		2203	4300	6503	SO:0001583	missense	285349				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:44635868G>C	AK094189	CCDS2716.1	3p21.32	2013-01-08			ENSG00000144792	ENSG00000144792		"""Zinc fingers, C2H2-type"""	26720	protein-coding gene	gene with protein product							Standard	NM_173658		Approved	FLJ36870	uc003cnl.1	Q6AZW8	OTTHUMG00000133097	ENST00000322734.2:c.183G>C	3.37:g.44635868G>C	ENSP00000324605:p.Gln61His						p.Q61H	NM_173658	NP_775929	Q6AZW8	ZN660_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)	3	516	+			61			C2H2-type 1.		Q7Z331|Q8N9M8	Missense_Mutation	SNP	ENST00000322734.2	37	c.183G>C	CCDS2716.1	.	.	.	.	.	.	.	.	.	.	G	9.159	1.018210	0.19355	.	.	ENSG00000144792	ENST00000322734	T	0.07327	3.2	4.46	2.67	0.31697	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10337	0.0253	L	0.27944	0.81	0.45108	D	0.998129	D	0.62365	0.991	P	0.55577	0.779	T	0.23119	-1.0197	8	.	.	.	.	7.8193	0.29278	0.2657:0.0:0.7343:0.0	.	61	Q6AZW8	ZN660_HUMAN	H	61	ENSP00000324605:Q61H	.	Q	+	3	2	ZNF660	44610872	0.000000	0.05858	1.000000	0.80357	0.989000	0.77384	-1.436000	0.02421	0.631000	0.30412	-0.126000	0.14955	CAG		0.438	ZNF660-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256756.4		NM_173658		14	42	0	0	0	0.016723	0	14	42		
ZNF660	285349	broad.mit.edu	37	3	44635933	44635933	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr3:44635933G>C	ENST00000322734.2	+	3	581	c.248G>C	c.(247-249)tGt>tCt	p.C83S	RP11-944L7.4_ENST00000457331.1_RNA	NM_173658.2	NP_775929.2	Q6AZW8	ZN660_HUMAN	zinc finger protein 660	83					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(2)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		TGTAAGGAGTGTGGAAAAGCT	0.443																																						uc003cnl.1		NaN																	0					0						c.(247-249)TGT>TCT		zinc finger protein 660							81.0	84.0	83.0					3																	44635933		2203	4300	6503	SO:0001583	missense	285349				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:44635933G>C	AK094189	CCDS2716.1	3p21.32	2013-01-08			ENSG00000144792	ENSG00000144792		"""Zinc fingers, C2H2-type"""	26720	protein-coding gene	gene with protein product							Standard	NM_173658		Approved	FLJ36870	uc003cnl.1	Q6AZW8	OTTHUMG00000133097	ENST00000322734.2:c.248G>C	3.37:g.44635933G>C	ENSP00000324605:p.Cys83Ser						p.C83S	NM_173658	NP_775929	Q6AZW8	ZN660_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)	3	581	+			83			C2H2-type 2.		Q7Z331|Q8N9M8	Missense_Mutation	SNP	ENST00000322734.2	37	c.248G>C	CCDS2716.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.409137	0.83340	.	.	ENSG00000144792	ENST00000322734	D	0.85861	-2.04	4.35	4.35	0.52113	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.95127	0.8421	H	0.97491	4.015	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96852	0.9626	8	.	.	.	.	16.1482	0.81586	0.0:0.0:1.0:0.0	.	83	Q6AZW8	ZN660_HUMAN	S	83	ENSP00000324605:C83S	.	C	+	2	0	ZNF660	44610937	1.000000	0.71417	0.985000	0.45067	0.993000	0.82548	7.620000	0.83070	2.410000	0.81850	0.655000	0.94253	TGT		0.443	ZNF660-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256756.4		NM_173658		15	44	0	0	0	0.00499	0	15	44		
PRICKLE2	166336	broad.mit.edu	37	3	64132828	64132828	+	Silent	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr3:64132828G>A	ENST00000295902.6	-	7	1923	c.1338C>T	c.(1336-1338)ttC>ttT	p.F446F	PRICKLE2_ENST00000564377.1_Silent_p.F502F	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	446					establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		TGGGGTTGCTGAAGTGCTTGC	0.582																																						uc003dmf.2		NaN																	0				ovary(4)|skin(1)	5						c.(1336-1338)TTC>TTT		prickle-like 2							85.0	89.0	88.0					3																	64132828		2203	4300	6503	SO:0001819	synonymous_variant	166336					cytoplasm|nuclear membrane	zinc ion binding	g.chr3:64132828G>A	AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"""prickle-like 2 (Drosophila)"""			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.1338C>T	3.37:g.64132828G>A							p.F446F	NM_198859	NP_942559	Q7Z3G6	PRIC2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)	7	1924	-		Lung NSC(201;0.136)	446					Q0VF44	Silent	SNP	ENST00000295902.6	37	c.1338C>T	CCDS2902.1																																																																																				0.582	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352219.1		NM_198859		30	79	0	0	0	0.008361	0	30	79		
ABI3BP	25890	broad.mit.edu	37	3	100566463	100566463	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr3:100566463G>A	ENST00000284322.5	-	17	1614	c.1505C>T	c.(1504-1506)cCt>cTt	p.P502L	ABI3BP_ENST00000495063.1_Missense_Mutation_p.P551L|ABI3BP_ENST00000471714.1_Missense_Mutation_p.P551L|ABI3BP_ENST00000383691.4_5'Flank	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	502	Pro-rich.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						TGTCCATGTAGGTTCAGGGCT	0.373																																						uc003dun.2		NaN																	0				ovary(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	4						c.(1504-1506)CCT>CTT		ABI gene family, member 3 (NESH) binding protein							297.0	284.0	288.0					3																	100566463		1844	4091	5935	SO:0001583	missense	25890					extracellular space		g.chr3:100566463G>A	AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"""Fibronectin type III domain containing"""	17265	protein-coding gene	gene with protein product	"""target of Nesh-SH3"""	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.1505C>T	3.37:g.100566463G>A	ENSP00000284322:p.Pro502Leu					ABI3BP_uc003duo.2_Missense_Mutation_p.P544L|ABI3BP_uc011bhd.1_5'Flank|ABI3BP_uc003dum.2_5'Flank	p.P502L	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN			17	1590	-			502			Pro-rich.		B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Missense_Mutation	SNP	ENST00000284322.5	37	c.1505C>T	CCDS46880.1	.	.	.	.	.	.	.	.	.	.	G	10.72	1.428818	0.25726	.	.	ENSG00000154175	ENST00000471714;ENST00000284322;ENST00000495063	T;T;T	0.59364	0.27;0.27;0.27	4.18	2.36	0.29203	.	1.045980	0.07515	N	0.909526	T	0.34483	0.0899	N	0.08118	0	0.80722	D	1	B;B	0.13594	0.008;0.001	B;B	0.12156	0.007;0.001	T	0.30534	-0.9975	10	0.31617	T	0.26	4.872	4.9847	0.14183	0.3323:0.0:0.6677:0.0	.	551;502	Q5JPC9;Q7Z7G0	.;TARSH_HUMAN	L	551;502;551	ENSP00000420524:P551L;ENSP00000284322:P502L;ENSP00000433993:P551L	ENSP00000284322:P502L	P	-	2	0	ABI3BP	102049153	0.681000	0.27614	0.985000	0.45067	0.995000	0.86356	0.525000	0.22956	1.081000	0.41110	0.591000	0.81541	CCT		0.373	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353260.1				86	113	0	0	0	0.01441	0	86	113		
SENP7	57337	broad.mit.edu	37	3	101060534	101060534	+	Silent	SNP	T	T	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr3:101060534T>C	ENST00000394095.2	-	15	2249	c.2196A>G	c.(2194-2196)ccA>ccG	p.P732P	SENP7_ENST00000348610.3_Silent_p.P699P|SENP7_ENST00000314261.7_Silent_p.P666P|SENP7_ENST00000394094.2_Silent_p.P667P|SENP7_ENST00000394091.1_Silent_p.P568P|SENP7_ENST00000358203.3_Silent_p.P568P	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	732						intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						ATTCTTCATCTGGATTAGATG	0.433																																						uc003dut.2		NaN																	0				ovary(3)|lung(2)	5						c.(2194-2196)CCA>CCG		sentrin/SUMO-specific protease 7 isoform 1							129.0	112.0	117.0					3																	101060534		2203	4300	6503	SO:0001819	synonymous_variant	57337				proteolysis	nucleus	cysteine-type peptidase activity	g.chr3:101060534T>C		CCDS2941.2, CCDS43121.1, CCDS63704.1, CCDS63705.1, CCDS63706.1	3q12	2008-02-05	2005-08-17		ENSG00000138468	ENSG00000138468			30402	protein-coding gene	gene with protein product		612846	"""SUMO1/sentrin specific protease 7"""			11214970, 11230166	Standard	NM_001282802		Approved		uc003dut.3	Q9BQF6	OTTHUMG00000149927	ENST00000394095.2:c.2196A>G	3.37:g.101060534T>C						SENP7_uc003duu.2_Silent_p.P667P|SENP7_uc003duv.2_Silent_p.P699P|SENP7_uc003duw.2_Silent_p.P666P|SENP7_uc003dux.2_Silent_p.P568P	p.P732P	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN			15	2307	-			732					A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Silent	SNP	ENST00000394095.2	37	c.2196A>G	CCDS2941.2																																																																																				0.433	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313957.2		NM_020654		28	38	0	0	0	0.027356	0	28	38		
GOLIM4	27333	broad.mit.edu	37	3	167750586	167750586	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr3:167750586C>T	ENST00000470487.1	-	9	1587	c.898G>A	c.(898-900)Gaa>Aaa	p.E300K	GOLIM4_ENST00000309027.4_Missense_Mutation_p.E272K	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	300					transport (GO:0006810)	cis-Golgi network (GO:0005801)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TTTGTGTCTTCTGCTCTTCCA	0.483																																						uc003ffe.2		NaN																	0				breast(4)|skin(1)	5						c.(898-900)GAA>AAA		golgi integral membrane protein 4							119.0	121.0	120.0					3																	167750586		2203	4300	6503	SO:0001583	missense	27333				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus		g.chr3:167750586C>T	U55853	CCDS3204.1	3q26	2007-07-30	2007-07-30	2007-07-30	ENSG00000173905	ENSG00000173905			15448	protein-coding gene	gene with protein product		606805	"""golgi phosphoprotein 4"""	GOLPH4		9201717, 15004235	Standard	NM_014498		Approved	GPP130, GIMPC, P138	uc003ffe.2	O00461	OTTHUMG00000158554	ENST00000470487.1:c.898G>A	3.37:g.167750586C>T	ENSP00000417354:p.Glu300Lys					GOLIM4_uc011bpe.1_Missense_Mutation_p.E300K|GOLIM4_uc011bpf.1_Missense_Mutation_p.E272K|GOLIM4_uc011bpg.1_Missense_Mutation_p.E272K	p.E300K	NM_014498	NP_055313	O00461	GOLI4_HUMAN			9	1242	-			300			Lumenal (Potential).			Missense_Mutation	SNP	ENST00000470487.1	37	c.898G>A	CCDS3204.1	.	.	.	.	.	.	.	.	.	.	C	12.62	1.994048	0.35226	.	.	ENSG00000173905	ENST00000470487;ENST00000309027	.	.	.	4.83	4.83	0.62350	.	0.350246	0.29113	N	0.013103	T	0.52629	0.1746	L	0.50333	1.59	0.33399	D	0.577109	P;P	0.44044	0.825;0.825	P;P	0.44811	0.461;0.461	T	0.63042	-0.6725	9	0.27082	T	0.32	-11.3011	16.7427	0.85464	0.0:1.0:0.0:0.0	.	272;300	F8W785;O00461	.;GOLI4_HUMAN	K	300;272	.	ENSP00000309893:E272K	E	-	1	0	GOLIM4	169233280	0.946000	0.32159	0.736000	0.30914	0.105000	0.19272	4.588000	0.60999	2.223000	0.72356	0.549000	0.68633	GAA		0.483	GOLIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351278.2				57	78	0	0	0	0.01441	0	57	78		
PIK3CA	5290	broad.mit.edu	37	3	178936095	178936095	+	Missense_Mutation	SNP	A	A	G	rs397517201		TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr3:178936095A>G	ENST00000263967.3	+	10	1794	c.1637A>G	c.(1636-1638)cAg>cGg	p.Q546R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	546	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		Q -> E (in BC; unknown pathological significance). {ECO:0000269|PubMed:15520168}.|Q -> K (in OC; unknown pathological significance). {ECO:0000269|PubMed:15520168}.|Q -> P (found in an anaplastic astrocytoma sample; unknown pathological significance). {ECO:0000269|PubMed:15289301}.|Q -> R (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.Q546R(30)|p.Q546P(18)|p.Q546L(5)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	ATCACTGAGCAGGAGAAAGAT	0.363		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		53	Substitution - Missense(53)	p.Q546K(54)|p.Q546R(17)|p.Q546P(10)|p.Q546E(9)|p.Q546L(6)|p.Q546H(4)	endometrium(18)|breast(17)|large_intestine(10)|central_nervous_system(3)|prostate(2)|upper_aerodigestive_tract(1)|stomach(1)|ovary(1)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(1636-1638)CAG>CGG		phosphoinositide-3-kinase, catalytic, alpha							61.0	61.0	61.0					3																	178936095		1813	4072	5885	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936095A>G		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1637A>G	3.37:g.178936095A>G	ENSP00000263967:p.Gln546Arg	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.Q546R	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		10	1794	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		546		Q -> K (in cancer).|Q -> P (in cancer).|Q -> E (in cancer).|Q -> R (in cancer).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1637A>G	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.332178	0.81801	.	.	ENSG00000121879	ENST00000263967	T	0.63417	-0.04	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.75657	0.3879	M	0.64404	1.975	0.80722	D	1	D	0.63046	0.992	D	0.65323	0.934	T	0.76782	-0.2832	10	0.52906	T	0.07	-14.2064	16.1026	0.81194	1.0:0.0:0.0:0.0	.	546	P42336	PK3CA_HUMAN	R	546	ENSP00000263967:Q546R	ENSP00000263967:Q546R	Q	+	2	0	PIK3CA	180418789	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	8.962000	0.93254	2.198000	0.70561	0.383000	0.25322	CAG		0.363	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2				27	32	0	0	0	0.00632	0	27	32		
RFC4	5984	broad.mit.edu	37	3	186512453	186512453	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr3:186512453C>T	ENST00000392481.2	-	5	685	c.404G>A	c.(403-405)cGc>cAc	p.R135H	RFC4_ENST00000433496.1_Missense_Mutation_p.R135H|RFC4_ENST00000296273.2_Missense_Mutation_p.R135H	NM_181573.2	NP_853551.1	P35249	RFC4_HUMAN	replication factor C (activator 1) 4, 37kDa	135					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)		TTACTCTGAGCGACTTCCTGA	0.383																																						uc003fqz.2		NaN																	0				breast(2)|upper_aerodigestive_tract(1)|ovary(1)|large_intestine(1)	5						c.(403-405)CGC>CAC		replication factor C 4							145.0	139.0	141.0					3																	186512453		2203	4300	6503	SO:0001583	missense	5984				cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding	g.chr3:186512453C>T		CCDS3283.1	3q27	2010-04-21	2002-08-29		ENSG00000163918	ENSG00000163918		"""ATPases / AAA-type"""	9972	protein-coding gene	gene with protein product	"""A1 37 kDa subunit"", ""activator 1 37 kDa subunit"", ""RFC 37 kDa subunit"""	102577	"""replication factor C (activator 1) 4 (37kD)"""			7774928	Standard	NM_181573		Approved	A1, RFC37	uc003fqz.3	P35249	OTTHUMG00000156515	ENST00000392481.2:c.404G>A	3.37:g.186512453C>T	ENSP00000376272:p.Arg135His					RFC4_uc011bsc.1_Missense_Mutation_p.R135H|RFC4_uc011bsd.1_Missense_Mutation_p.R135H	p.R135H	NM_002916	NP_002907	P35249	RFC4_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)	5	627	-	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		135					B4DM41|D3DNV2|Q6FHX7	Missense_Mutation	SNP	ENST00000392481.2	37	c.404G>A	CCDS3283.1	.	.	.	.	.	.	.	.	.	.	C	19.97	3.924597	0.73213	.	.	ENSG00000163918	ENST00000433496;ENST00000392481;ENST00000296273;ENST00000418288;ENST00000447345	D;D;D;D;D	0.93076	-3.16;-3.16;-3.16;-3.16;-3.16	6.06	5.18	0.71444	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.047618	0.85682	D	0.000000	D	0.88908	0.6565	N	0.19112	0.55	0.80722	D	1	P;B	0.44090	0.826;0.438	P;B	0.45538	0.484;0.299	D	0.87916	0.2700	10	0.40728	T	0.16	.	12.381	0.55307	0.0:0.9201:0.0:0.0799	.	135;135	B4DM41;P35249	.;RFC4_HUMAN	H	135	ENSP00000399769:R135H;ENSP00000376272:R135H;ENSP00000296273:R135H;ENSP00000411300:R135H;ENSP00000413065:R135H	ENSP00000296273:R135H	R	-	2	0	RFC4	187995147	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.007000	0.70731	2.871000	0.98454	0.655000	0.94253	CGC		0.383	RFC4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344471.1		NM_002916		13	56	0	0	0	0.016723	0	13	56		
AFAP1	60312	broad.mit.edu	37	4	7770734	7770734	+	Splice_Site	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr4:7770734G>A	ENST00000360265.4	-	15	2237	c.2003C>T	c.(2002-2004)tCt>tTt	p.S668F	AFAP1_ENST00000420658.1_Splice_Site_p.S752F|AFAP1_ENST00000358461.2_Splice_Site_p.S668F|AFAP1_ENST00000382543.3_Splice_Site_p.S752F|AFAP1-AS1_ENST00000608442.1_RNA|AFAP1_ENST00000513842.1_5'UTR			Q8N556	AFAP1_HUMAN	actin filament associated protein 1	668						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						GAACACTGGAGACTTAACGGA	0.547																																						uc003gkg.1		NaN																	0					0						c.(2002-2004)TCT>TTT		actin filament associated protein 1							71.0	85.0	81.0					4																	7770734		2203	4300	6503	SO:0001630	splice_region_variant	60312					actin cytoskeleton|cytoplasm|focal adhesion	actin binding	g.chr4:7770734G>A	AB209676	CCDS3397.1, CCDS47010.1	4p16	2014-02-12	2007-02-07		ENSG00000196526	ENSG00000196526		"""Pleckstrin homology (PH) domain containing"""	24017	protein-coding gene	gene with protein product		608252				14755689, 11641786, 11607843	Standard	NM_198595		Approved	AFAP-110, AFAP	uc011bwk.1	Q8N556	OTTHUMG00000125515	ENST00000360265.4:c.2002-1C>T	4.37:g.7770734G>A						AFAP1_uc011bwk.1_Missense_Mutation_p.S752F|LOC84740_uc003gkd.3_Intron	p.S668F	NM_198595	NP_940997	Q8N556	AFAP1_HUMAN			16	2276	-			668					A8K442|B4DMU2|E9PDT7|Q59EY5|Q9HBY1	Missense_Mutation	SNP	ENST00000360265.4	37	c.2003C>T	CCDS3397.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.938267	0.73557	.	.	ENSG00000196526	ENST00000360265;ENST00000420658;ENST00000358461;ENST00000382543	T;T;T;T	0.16743	2.34;2.32;2.34;2.32	4.48	4.48	0.54585	.	0.138830	0.50627	D	0.000116	T	0.28267	0.0698	N	0.22421	0.69	0.80722	D	1	D;D	0.71674	0.996;0.998	P;D	0.67548	0.853;0.952	T	0.13602	-1.0503	10	0.72032	D	0.01	-14.272	17.1626	0.86807	0.0:0.0:1.0:0.0	.	752;668	E9PDT7;Q8N556	.;AFAP1_HUMAN	F	668;752;668;752	ENSP00000353402:S668F;ENSP00000410689:S752F;ENSP00000351245:S668F;ENSP00000371983:S752F	ENSP00000351245:S668F	S	-	2	0	AFAP1	7821634	1.000000	0.71417	0.949000	0.38748	0.530000	0.34684	8.640000	0.91028	2.030000	0.59900	0.561000	0.74099	TCT		0.547	AFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246842.2		NM_021638	Missense_Mutation	32	175	0	0	0	0.013726	0	32	175		
SEL1L3	23231	broad.mit.edu	37	4	25836912	25836912	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr4:25836912G>C	ENST00000399878.3	-	3	889	c.767C>G	c.(766-768)tCc>tGc	p.S256C	SEL1L3_ENST00000264868.5_Missense_Mutation_p.S221C|SEL1L3_ENST00000502949.1_Missense_Mutation_p.S103C|SEL1L3_ENST00000513364.1_5'UTR	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	256						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						TTCTCCACTGGAGGCATAAGG	0.488																																						uc003gru.3		NaN																	0					0						c.(766-768)TCC>TGC		sel-1 suppressor of lin-12-like 3							94.0	94.0	94.0					4																	25836912		1926	4123	6049	SO:0001583	missense	23231					integral to membrane	binding	g.chr4:25836912G>C	BC009945	CCDS47037.1, CCDS75113.1	4p15.2	2009-09-24			ENSG00000091490	ENSG00000091490			29108	protein-coding gene	gene with protein product	"""KIAA0746 protein"""					9872452	Standard	XM_005248143		Approved	KIAA0746	uc003gru.4	Q68CR1	OTTHUMG00000160331	ENST00000399878.3:c.767C>G	4.37:g.25836912G>C	ENSP00000382767:p.Ser256Cys						p.S256C	NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN			3	919	-			256					A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Missense_Mutation	SNP	ENST00000399878.3	37	c.767C>G	CCDS47037.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.318823	0.81469	.	.	ENSG00000091490	ENST00000399878;ENST00000264868;ENST00000502949	T;T;T	0.20598	2.06;2.06;2.06	5.78	5.78	0.91487	.	0.328596	0.36374	N	0.002629	T	0.46658	0.1404	M	0.68952	2.095	0.42244	D	0.991947	D	0.89917	1.0	D	0.85130	0.997	T	0.35450	-0.9788	10	0.62326	D	0.03	-25.3587	16.9292	0.86186	0.0:0.0:1.0:0.0	.	256	Q68CR1	SE1L3_HUMAN	C	256;221;103	ENSP00000382767:S256C;ENSP00000264868:S221C;ENSP00000425438:S103C	ENSP00000264868:S221C	S	-	2	0	SEL1L3	25446010	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	5.576000	0.67437	2.749000	0.94314	0.655000	0.94253	TCC		0.488	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360261.1		NM_015187		26	100	0	0	0	0.021523	0	26	100		
COX7B2	170712	broad.mit.edu	37	4	46737107	46737107	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr4:46737107G>C	ENST00000396533.1	-	4	353	c.103C>G	c.(103-105)Cat>Gat	p.H35D	COX7B2_ENST00000355591.3_Missense_Mutation_p.H35D|COX7B2_ENST00000543208.1_Missense_Mutation_p.H34D|COX7B2_ENST00000302930.5_Missense_Mutation_p.H35D			Q8TF08	CX7B2_HUMAN	cytochrome c oxidase subunit VIIb2	35						integral component of membrane (GO:0016021)|mitochondrial respiratory chain (GO:0005746)	cytochrome-c oxidase activity (GO:0004129)			large_intestine(1)|lung(4)	5						TATTTATCATGAAAATCTGGT	0.423																																						uc003gxf.2		NaN																	0					0						c.(103-105)CAT>GAT		cytochrome c oxidase subunit VIIb2 precursor							157.0	138.0	144.0					4																	46737107		2203	4300	6503	SO:0001583	missense	170712					integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity	g.chr4:46737107G>C	AF125109	CCDS3472.2	4p12	2011-07-04			ENSG00000170516	ENSG00000170516		"""Mitochondrial respiratory chain complex / Complex IV"""	24381	protein-coding gene	gene with protein product		609811				15623157	Standard	NM_130902		Approved		uc003gxf.3	Q8TF08	OTTHUMG00000099423	ENST00000396533.1:c.103C>G	4.37:g.46737107G>C	ENSP00000379784:p.His35Asp					COX7B2_uc010ige.2_RNA	p.H35D	NM_130902	NP_570972	Q8TF08	CX7B2_HUMAN			3	283	-			35			Helical; (By similarity).		Q32Q40	Missense_Mutation	SNP	ENST00000396533.1	37	c.103C>G	CCDS3472.2	.	.	.	.	.	.	.	.	.	.	G	14.69	2.611651	0.46631	.	.	ENSG00000170516	ENST00000355591;ENST00000396533;ENST00000302930;ENST00000543208	T;T;T;T	0.59906	0.23;0.23;0.23;0.23	4.22	4.22	0.49857	Cytochrome C oxidase, subunit VIIB, domain (2);	0.000000	0.85682	D	0.000000	T	0.72070	0.3415	.	.	.	0.35494	D	0.799255	D	0.63046	0.992	D	0.64776	0.929	T	0.80448	-0.1378	9	0.87932	D	0	-0.1243	12.3835	0.55320	0.0:0.0:1.0:0.0	.	35	Q8TF08	CX7B2_HUMAN	D	35;35;35;34	ENSP00000347799:H35D;ENSP00000379784:H35D;ENSP00000305964:H35D;ENSP00000437439:H34D	ENSP00000305964:H35D	H	-	1	0	COX7B2	46431864	1.000000	0.71417	1.000000	0.80357	0.302000	0.27658	3.110000	0.50352	2.649000	0.89929	0.585000	0.79938	CAT		0.423	COX7B2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313899.1		NM_130902		8	76	0	0	0	0.004482	0	8	76		
LIN54	132660	broad.mit.edu	37	4	83905979	83905979	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr4:83905979C>T	ENST00000340417.3	-	2	396	c.19G>A	c.(19-21)Gag>Aag	p.E7K	LIN54_ENST00000395282.2_Missense_Mutation_p.E7K|LIN54_ENST00000506560.1_Missense_Mutation_p.E7K|LIN54_ENST00000505397.1_Missense_Mutation_p.E7K|LIN54_ENST00000446851.2_Missense_Mutation_p.E7K|LIN54_ENST00000510557.1_Missense_Mutation_p.E7K|LIN54_ENST00000442461.2_Missense_Mutation_p.E7K|LIN54_ENST00000395283.2_Missense_Mutation_p.E7K	NM_194282.2	NP_919258.2	Q6MZP7	LIN54_HUMAN	lin-54 DREAM MuvB core complex component	7					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14		Hepatocellular(203;0.114)				CTATTCACCTCAGCTGGCACC	0.393																																						uc003hnx.3		NaN																	0					0						c.(19-21)GAG>AAG		lin-54 homolog isoform a							84.0	80.0	81.0					4																	83905979		2203	4300	6503	SO:0001583	missense	132660				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr4:83905979C>T	BX537919	CCDS3599.1, CCDS47089.1, CCDS75157.1	4q21.22	2014-07-17	2014-07-17		ENSG00000189308	ENSG00000189308			25397	protein-coding gene	gene with protein product	"""CXC domain containing 1"""	613367	"""lin-54 homolog (C. elegans)"""			21498570	Standard	XM_005262749		Approved	MIP120, DKFZp686L1814, JC8.6, CXCDC1	uc003hnx.3	Q6MZP7	OTTHUMG00000130287	ENST00000340417.3:c.19G>A	4.37:g.83905979C>T	ENSP00000341947:p.Glu7Lys					LIN54_uc003hnz.3_Missense_Mutation_p.E7K|LIN54_uc003hny.3_5'UTR|LIN54_uc010ijt.2_Missense_Mutation_p.E7K|LIN54_uc010iju.2_5'UTR|LIN54_uc010ijv.2_Missense_Mutation_p.E7K	p.E7K	NM_194282	NP_919258	Q6MZP7	LIN54_HUMAN			2	397	-		Hepatocellular(203;0.114)	7					Q32M68|Q32M69|Q6N071|Q76B60	Missense_Mutation	SNP	ENST00000340417.3	37	c.19G>A	CCDS3599.1	.	.	.	.	.	.	.	.	.	.	C	18.85	3.711702	0.68730	.	.	ENSG00000189308	ENST00000340417;ENST00000395283;ENST00000395282;ENST00000442461;ENST00000446851;ENST00000510557;ENST00000506560;ENST00000505397	.	.	.	5.19	4.35	0.52113	.	0.052687	0.85682	D	0.000000	T	0.35740	0.0942	L	0.27053	0.805	0.58432	D	0.999997	B;B;P	0.37781	0.003;0.131;0.608	B;B;B	0.29942	0.002;0.018;0.109	T	0.12656	-1.0539	9	0.30078	T	0.28	-16.6149	13.7194	0.62717	0.0:0.9249:0.0:0.0751	.	7;100;7	Q6MZP7-2;Q7Z3G2;Q6MZP7	.;.;LIN54_HUMAN	K	7	.	ENSP00000341947:E7K	E	-	1	0	LIN54	84125003	1.000000	0.71417	0.991000	0.47740	0.631000	0.37964	6.749000	0.74883	1.181000	0.42912	-0.140000	0.14226	GAG		0.393	LIN54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252626.2		NM_194282		42	104	0	0	0	0.010771	0	42	104		
FHDC1	85462	broad.mit.edu	37	4	153864366	153864366	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr4:153864366G>A	ENST00000511601.1	+	2	345	c.157G>A	c.(157-159)Gag>Aag	p.E53K	FHDC1_ENST00000260008.3_Missense_Mutation_p.E53K			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	53									ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					TTCAAGGGAAGAGTGTCCTTC	0.607																																						uc003inf.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.(157-159)GAG>AAG		FH2 domain containing 1							97.0	69.0	79.0					4																	153864366		2203	4300	6503	SO:0001583	missense	85462				actin cytoskeleton organization		actin binding	g.chr4:153864366G>A	AB051514	CCDS34081.1	4q31.3	2014-02-12	2007-11-29		ENSG00000137460	ENSG00000137460			29363	protein-coding gene	gene with protein product						15138637	Standard	NM_033393		Approved	KIAA1727	uc003inf.2	Q9C0D6	OTTHUMG00000161452	ENST00000511601.1:c.157G>A	4.37:g.153864366G>A	ENSP00000427567:p.Glu53Lys						p.E53K	NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN			1	232	+	all_hematologic(180;0.093)		53						Missense_Mutation	SNP	ENST00000511601.1	37	c.157G>A	CCDS34081.1	.	.	.	.	.	.	.	.	.	.	G	5.037	0.192583	0.09599	.	.	ENSG00000137460	ENST00000511601;ENST00000260008	T;T	0.29655	1.56;1.56	4.68	4.68	0.58851	.	2.148380	0.01989	N	0.045409	T	0.21674	0.0522	N	0.08118	0	0.09310	N	1	B	0.19073	0.033	B	0.14023	0.01	T	0.13045	-1.0524	10	0.25106	T	0.35	.	12.4373	0.55606	0.0:0.169:0.831:0.0	.	53	Q9C0D6	FHDC1_HUMAN	K	53	ENSP00000427567:E53K;ENSP00000260008:E53K	ENSP00000260008:E53K	E	+	1	0	FHDC1	154083816	0.733000	0.28132	0.012000	0.15200	0.010000	0.07245	2.726000	0.47302	2.165000	0.68154	0.462000	0.41574	GAG		0.607	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364981.2		NM_033393		6	18	0	0	0	0.00308	0	6	18		
FAT1	2195	broad.mit.edu	37	4	187540391	187540391	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr4:187540391G>C	ENST00000441802.2	-	10	7558	c.7349C>G	c.(7348-7350)tCa>tGa	p.S2450*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2450	Cadherin 22. {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)	p.S2450*(2)|p.S2453*(2)		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						GTGCAGGTTTGAGAGGGTGAT	0.433										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2		NaN																	4	Substitution - Nonsense(4)		lung(4)	ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(7348-7350)TCA>TGA		FAT tumor suppressor 1 precursor							160.0	166.0	164.0					4																	187540391		2055	4199	6254	SO:0001587	stop_gained	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.chr4:187540391G>C	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.7349C>G	4.37:g.187540391G>C	ENSP00000406229:p.Ser2450*	HNSCC(5;0.00058)					p.S2450*	NM_005245	NP_005236	Q14517	FAT1_HUMAN			10	7537	-			2450			Extracellular (Potential).|Cadherin 22.			Nonsense_Mutation	SNP	ENST00000441802.2	37	c.7349C>G	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	47	13.224743	0.99728	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	.	19.3787	0.94523	0.0:0.0:1.0:0.0	.	.	.	.	X	2450;2452	.	ENSP00000260147:S2452X	S	-	2	0	FAT1	187777385	1.000000	0.71417	0.983000	0.44433	0.038000	0.13279	9.601000	0.98297	2.890000	0.99128	0.650000	0.86243	TCA		0.433	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3		NM_005245		25	136	0	0	0	0.01892	0	25	136		
ICE1	23379	broad.mit.edu	37	5	5464640	5464640	+	Silent	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr5:5464640C>G	ENST00000296564.7	+	13	5415	c.5193C>G	c.(5191-5193)ctC>ctG	p.L1731L		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		1731	Pro-rich.				positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						CTGGCCGACTCCCACCCTGTG	0.597																																						uc003jdm.3		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(5191-5193)CTC>CTG		hypothetical protein LOC23379							39.0	41.0	40.0					5																	5464640		2073	4209	6282	SO:0001819	synonymous_variant	23379							g.chr5:5464640C>G																												ENST00000296564.7:c.5193C>G	5.37:g.5464640C>G							p.L1731L	NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN			13	5415	+			1731			Pro-rich.		Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Silent	SNP	ENST00000296564.7	37	c.5193C>G	CCDS47187.1																																																																																				0.597	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1				7	47	0	0	0	0.001984	0	7	47		
WDR70	55100	broad.mit.edu	37	5	37379600	37379600	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr5:37379600C>T	ENST00000265107.4	+	2	191	c.35C>T	c.(34-36)tCa>tTa	p.S12L	WDR70_ENST00000504564.1_Missense_Mutation_p.S12L	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	12							enzyme binding (GO:0019899)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GTGACAGGCTCAGACGCGTCG	0.662																																						uc003jkv.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(34-36)TCA>TTA		WD repeat domain 70							33.0	39.0	37.0					5																	37379600		2203	4299	6502	SO:0001583	missense	55100							g.chr5:37379600C>T	BC009648	CCDS34147.1	5p13.2	2013-01-09			ENSG00000082068	ENSG00000082068		"""WD repeat domain containing"""	25495	protein-coding gene	gene with protein product						12477932	Standard	NM_018034		Approved	FLJ10233	uc003jkv.3	Q9NW82	OTTHUMG00000162263	ENST00000265107.4:c.35C>T	5.37:g.37379600C>T	ENSP00000265107:p.Ser12Leu					WDR70_uc010iva.1_Missense_Mutation_p.S12L	p.S12L	NM_018034	NP_060504	Q9NW82	WDR70_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		2	93	+	all_lung(31;0.000285)		12					Q9H053	Missense_Mutation	SNP	ENST00000265107.4	37	c.35C>T	CCDS34147.1	.	.	.	.	.	.	.	.	.	.	C	13.28	2.190076	0.38707	.	.	ENSG00000082068	ENST00000265107;ENST00000504564	T;D	0.85955	-0.21;-2.05	4.07	3.18	0.36537	.	1.222740	0.06534	U	0.742042	T	0.71484	0.3345	N	0.08118	0	0.09310	N	1	B;B	0.14012	0.009;0.0	B;B	0.08055	0.003;0.001	T	0.57682	-0.7769	10	0.32370	T	0.25	-13.165	8.866	0.35286	0.0:0.8184:0.0:0.1816	.	12;12	D6RIW8;Q9NW82	.;WDR70_HUMAN	L	12	ENSP00000265107:S12L;ENSP00000425841:S12L	ENSP00000265107:S12L	S	+	2	0	WDR70	37415357	0.015000	0.18098	0.082000	0.20525	0.031000	0.12232	1.777000	0.38604	2.273000	0.75805	0.557000	0.71058	TCA		0.662	WDR70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368294.1		NM_018034		23	93	0	0	0	0.016522	0	23	93		
CCDC125	202243	broad.mit.edu	37	5	68603838	68603838	+	Silent	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr5:68603838G>A	ENST00000396496.2	-	5	578	c.471C>T	c.(469-471)gcC>gcT	p.A157A	CCDC125_ENST00000460090.1_Intron|CCDC125_ENST00000383374.2_Silent_p.A156A|CCDC125_ENST00000511257.1_Silent_p.A32A|CCDC125_ENST00000396499.1_Silent_p.A157A			Q86Z20	CC125_HUMAN	coiled-coil domain containing 125	157						cytoplasm (GO:0005737)				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|urinary_tract(1)	19		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)		TATGACTTGTGGCTTTGCCCA	0.333																																						uc003jvv.1		NaN																	0					0						c.(469-471)GCC>GCT		coiled-coil domain containing 125							100.0	90.0	93.0					5																	68603838		2202	4300	6502	SO:0001819	synonymous_variant	202243					cytoplasm		g.chr5:68603838G>A	AB024691	CCDS4000.1, CCDS75255.1	5q13.2	2008-02-05			ENSG00000183323	ENSG00000183323			28924	protein-coding gene	gene with protein product		613781					Standard	XM_005248461		Approved	KENAE	uc003jvv.1	Q86Z20	OTTHUMG00000131259	ENST00000396496.2:c.471C>T	5.37:g.68603838G>A						CCDC125_uc003jvx.1_Silent_p.A156A|CCDC125_uc003jvy.1_Intron|CCDC125_uc003jvw.2_Silent_p.A32A|CCDC125_uc003jvz.1_3'UTR	p.A157A	NM_176816	NP_789786	Q86Z20	CC125_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)	4	514	-		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)	157			Potential.		Q86Z19	Silent	SNP	ENST00000396496.2	37	c.471C>T	CCDS4000.1																																																																																				0.333	CCDC125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254027.4		NM_176816		7	47	0	0	0	0.00308	0	7	47		
CCDC125	202243	broad.mit.edu	37	5	68616398	68616398	+	De_novo_Start_InFrame	SNP	A	A	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr5:68616398A>C	ENST00000396496.2	-	0	77				CCDC125_ENST00000460090.1_5'UTR|CCDC125_ENST00000383374.2_De_novo_Start_InFrame|CCDC125_ENST00000511257.1_De_novo_Start_OutOfFrame|CCDC125_ENST00000396499.1_De_novo_Start_InFrame			Q86Z20	CC125_HUMAN	coiled-coil domain containing 125							cytoplasm (GO:0005737)				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|urinary_tract(1)	19		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)		CATAAGAAAAAATGGGCTGTC	0.413																																						uc003jvv.1		NaN																	0					0						c.(-32--28)ATTTT>ATGTT		coiled-coil domain containing 125							47.0	45.0	46.0					5																	68616398		2202	4300	6502			202243					cytoplasm		g.chr5:68616398A>C	AB024691	CCDS4000.1, CCDS75255.1	5q13.2	2008-02-05			ENSG00000183323	ENSG00000183323			28924	protein-coding gene	gene with protein product		613781					Standard	XM_005248461		Approved	KENAE	uc003jvv.1	Q86Z20	OTTHUMG00000131259		5.37:g.68616398A>C						CCDC125_uc003jvx.1_Translation_Start_Site|CCDC125_uc003jvy.1_RNA|CCDC125_uc003jvw.2_Translation_Start_Site|CCDC125_uc003jvz.1_Translation_Start_Site		NM_176816	NP_789786	Q86Z20	CC125_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)	1	13	-		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)						Q86Z19	Translation_Start_Site	SNP	ENST00000396496.2	37	c.-30T>G	CCDS4000.1																																																																																				0.413	CCDC125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254027.4		NM_176816		11	25	0	0	0	0.008291	0	11	25		
FAM169A	26049	broad.mit.edu	37	5	74077445	74077445	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr5:74077445G>C	ENST00000389156.4	-	13	1943	c.1853C>G	c.(1852-1854)tCt>tGt	p.S618C	FAM169A_ENST00000510496.1_Missense_Mutation_p.S558C|FAM169A_ENST00000380515.3_3'UTR|RNU6-1330P_ENST00000362775.1_RNA	NM_015566.2	NP_056381.1	Q9Y6X4	F169A_HUMAN	family with sequence similarity 169, member A	618						membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	27						TTGCTCGGAAGATGCTTCAGA	0.468																																						uc003kdm.2		NaN																	0					0						c.(1852-1854)TCT>TGT		hypothetical protein LOC26049							157.0	149.0	151.0					5																	74077445		1938	4143	6081	SO:0001583	missense	26049							g.chr5:74077445G>C		CCDS43330.1	5q13.3	2008-08-08			ENSG00000198780	ENSG00000198780			29138	protein-coding gene	gene with protein product		615769				10048485	Standard	NM_015566		Approved	KIAA0888	uc003kdm.4	Q9Y6X4	OTTHUMG00000162930	ENST00000389156.4:c.1853C>G	5.37:g.74077445G>C	ENSP00000373808:p.Ser618Cys					FAM169A_uc010izm.2_Missense_Mutation_p.S558C|FAM169A_uc003kdl.2_Missense_Mutation_p.S436C	p.S618C	NM_015566	NP_056381	Q9Y6X4	F169A_HUMAN			13	1896	-			618					A8K1T9|Q6MZT0|Q9H989	Missense_Mutation	SNP	ENST00000389156.4	37	c.1853C>G	CCDS43330.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.157146	0.78114	.	.	ENSG00000198780	ENST00000389156;ENST00000510496	T	0.56611	0.45	6.04	6.04	0.98038	.	0.000000	0.64402	D	0.000004	T	0.65428	0.2690	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.66204	-0.5982	10	0.87932	D	0	-14.4981	18.7754	0.91910	0.0:0.0:1.0:0.0	.	558;618	D6RB01;Q9Y6X4	.;F169A_HUMAN	C	618;558	ENSP00000373808:S618C	ENSP00000373808:S618C	S	-	2	0	FAM169A	74113201	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.731000	0.62022	2.873000	0.98535	0.563000	0.77884	TCT		0.468	FAM169A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371092.2				21	134	0	0	0	0.010504	0	21	134		
GIN1	54826	broad.mit.edu	37	5	102432327	102432327	+	Silent	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr5:102432327C>T	ENST00000399004.2	-	7	1306	c.1212G>A	c.(1210-1212)ctG>ctA	p.L404L	GIN1_ENST00000508629.1_Intron	NM_017676.2	NP_060146.2	Q9NXP7	GIN1_HUMAN	gypsy retrotransposon integrase 1	404					DNA integration (GO:0015074)		nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283)		Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794)		TGTTGTCTCTCAGGACAGCAC	0.413																																						uc003koa.1		NaN																	0				ovary(1)|skin(1)	2						c.(1210-1212)CTG>CTA		zinc finger, H2C2 domain containing							229.0	215.0	219.0					5																	102432327		1875	4113	5988	SO:0001819	synonymous_variant	54826				DNA integration		DNA binding	g.chr5:102432327C>T	BC015325	CCDS43349.1	5q21.1	2008-02-11	2007-06-13	2007-06-13		ENSG00000145723			25959	protein-coding gene	gene with protein product	"""gypsy integrase 1"", ""Ty3/Gypsy integrase 1"""		"""zinc finger, H2C2 domain containing"""	ZH2C2		11470852	Standard	NM_017676		Approved	FLJ20125, GIN-1, TGIN1	uc003koa.1	Q9NXP7		ENST00000399004.2:c.1212G>A	5.37:g.102432327C>T						GIN1_uc003kob.1_Silent_p.L257L|GIN1_uc003koc.1_Intron	p.L404L	NM_017676	NP_060146	Q9NXP7	GIN1_HUMAN		Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794)	7	1294	-		all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283)	404					B2RXF7|B4DIV4|Q6AI03|Q96BR2	Silent	SNP	ENST00000399004.2	37	c.1212G>A	CCDS43349.1																																																																																				0.413	GIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370478.3		NM_017676		47	179	0	0	0	0.011902	0	47	179		
ISOC1	51015	broad.mit.edu	37	5	128430720	128430720	+	Silent	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr5:128430720C>T	ENST00000173527.5	+	1	277	c.261C>T	c.(259-261)ttC>ttT	p.F87F	MIR4633_ENST00000584064.1_RNA	NM_016048.2	NP_057132.2	Q96CN7	ISOC1_HUMAN	isochorismatase domain containing 1	87						extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)	catalytic activity (GO:0003824)			kidney(2)|lung(7)	9		all_cancers(142;0.0813)|Prostate(80;0.0865)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.138)|OV - Ovarian serous cystadenocarcinoma(64;0.164)		CCAAGGGCTTCGCGGTGAGCG	0.667																																						uc003kva.2		NaN																	0					0						c.(259-261)TTC>TTT		isochorismatase domain containing 1							25.0	30.0	29.0					5																	128430720		2085	4207	6292	SO:0001819	synonymous_variant	51015					peroxisome	catalytic activity	g.chr5:128430720C>T	AF151869	CCDS43357.1	5q22.1-q33.3	2010-03-19			ENSG00000066583	ENSG00000066583			24254	protein-coding gene	gene with protein product						10810093, 18566572	Standard	NM_016048		Approved	CGI-111	uc003kva.3	Q96CN7	OTTHUMG00000163144	ENST00000173527.5:c.261C>T	5.37:g.128430720C>T							p.F87F	NM_016048	NP_057132	Q96CN7	ISOC1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.138)|OV - Ovarian serous cystadenocarcinoma(64;0.164)	1	279	+		all_cancers(142;0.0813)|Prostate(80;0.0865)	87					Q7Z770	Silent	SNP	ENST00000173527.5	37	c.261C>T	CCDS43357.1																																																																																				0.667	ISOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371826.1		NM_016048		4	23	0	0	0	0.009096	0	4	23		
ANKHD1	54882	broad.mit.edu	37	5	139838425	139838425	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr5:139838425G>A	ENST00000360839.2	+	8	1612	c.1458G>A	c.(1456-1458)atG>atA	p.M486I	ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.M486I|ANKHD1_ENST00000297183.6_Missense_Mutation_p.M486I|ANKHD1_ENST00000394722.3_Missense_Mutation_p.M475I|ANKHD1_ENST00000394723.3_Missense_Mutation_p.M486I	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	486						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGAAGAAATGGTGGCACTAC	0.398																																						uc003lfs.1		NaN																	0				ovary(6)	6						c.(1456-1458)ATG>ATA		ANKHD1-EIF4EBP3 protein							101.0	97.0	98.0					5																	139838425		2203	4300	6503	SO:0001583	missense	404734					cytoplasm|nucleus	RNA binding	g.chr5:139838425G>A	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.1458G>A	5.37:g.139838425G>A	ENSP00000354085:p.Met486Ile					ANKHD1_uc003lfq.1_Missense_Mutation_p.M486I|ANKHD1_uc003lfr.2_Missense_Mutation_p.M486I|ANKHD1_uc003lft.1_5'Flank|ANKHD1_uc003lfu.1_5'Flank|ANKHD1_uc003lfp.2_Missense_Mutation_p.M475I|ANKHD1_uc003lfo.2_Missense_Mutation_p.M486I|ANKHD1_uc010jfk.2_Missense_Mutation_p.M486I	p.M486I	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		8	1582	+			486					A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	ENST00000360839.2	37	c.1458G>A	CCDS4225.1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.675560	0.67928	.	.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996	ENST00000360839;ENST00000422011;ENST00000297183;ENST00000253810;ENST00000310356;ENST00000421134;ENST00000394723;ENST00000394722;ENST00000532219	T;T;T;T;T;T	0.60920	0.15;0.15;0.15;0.15;0.15;0.15	5.82	5.82	0.92795	Ankyrin repeat-containing domain (5);	0.042833	0.85682	N	0.000000	T	0.61451	0.2348	N	0.11284	0.12	0.80722	D	1	P;D;D;B;P	0.54964	0.732;0.969;0.969;0.372;0.76	P;D;D;B;B	0.70227	0.561;0.968;0.968;0.171;0.237	T	0.65125	-0.6244	10	0.41790	T	0.15	.	20.091	0.97817	0.0:0.0:1.0:0.0	.	486;486;486;475;486	Q8IWZ3-5;Q8IWZ2;Q8IWZ3;Q8IWZ3-3;Q8IWZ3-2	.;.;ANKH1_HUMAN;.;.	I	486;500;486;486;1;486;486;475;486	ENSP00000354085:M486I;ENSP00000297183:M486I;ENSP00000394489:M486I;ENSP00000378212:M486I;ENSP00000378211:M475I;ENSP00000432016:M486I	ENSP00000432016:M486I	M	+	3	0	ANKHD1-EIF4EBP3;ANKHD1	139818609	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	9.750000	0.98875	2.755000	0.94549	0.591000	0.81541	ATG		0.398	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1		NM_017747		11	79	0	0	0	0.008291	0	11	79		
PCDHA11	56138	broad.mit.edu	37	5	140250913	140250913	+	Missense_Mutation	SNP	G	G	A	rs374687707		TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr5:140250913G>A	ENST00000398640.2	+	1	2225	c.2225G>A	c.(2224-2226)cGc>cAc	p.R742H	PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	742	6 X 4 AA repeats of P-X-X-P.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGTGCTCCCGCGCGGTGGGG	0.677																																						uc003lia.2		NaN																	0				breast(1)	1						c.(2224-2226)CGC>CAC		protocadherin alpha 11 isoform 1 precursor							29.0	31.0	31.0					5																	140250913		2203	4300	6503	SO:0001583	missense	56138				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140250913G>A	AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.2225G>A	5.37:g.140250913G>A	ENSP00000381636:p.Arg742His					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Missense_Mutation_p.R742H	p.R742H	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	3083	+			742			Cytoplasmic (Potential).|6 X 4 AA repeats of P-X-X-P.		B2RN58|O75279	Missense_Mutation	SNP	ENST00000398640.2	37	c.2225G>A	CCDS47284.1	.	.	.	.	.	.	.	.	.	.	G	7.643	0.681315	0.14907	.	.	ENSG00000249158	ENST00000398640	T	0.11604	2.76	4.6	2.37	0.29283	.	.	.	.	.	T	0.05640	0.0148	N	0.11064	0.09	0.22571	N	0.998978	B;B	0.27732	0.187;0.002	B;B	0.30029	0.11;0.004	T	0.44574	-0.9319	9	0.19590	T	0.45	.	7.384	0.26872	0.1685:0.1512:0.6803:0.0	.	742;742	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	H	742	ENSP00000381636:R742H	ENSP00000381636:R742H	R	+	2	0	PCDHA11	140231097	1.000000	0.71417	0.990000	0.47175	0.145000	0.21501	2.796000	0.47869	0.894000	0.36317	0.655000	0.94253	CGC		0.677	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2		NM_018902		15	56	0	0	0	0.020292	0	15	56		
CREBRF	153222	broad.mit.edu	37	5	172517948	172517948	+	Missense_Mutation	SNP	C	C	T	rs576146005	byFrequency	TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr5:172517948C>T	ENST00000296953.2	+	4	1085	c.766C>T	c.(766-768)Cac>Tac	p.H256Y	CREBRF_ENST00000520420.1_Missense_Mutation_p.H256Y|CREBRF_ENST00000522692.1_Missense_Mutation_p.H256Y|CREBRF_ENST00000540014.1_Missense_Mutation_p.H256Y	NM_153607.2	NP_705835.2	Q8IUR6	CRERF_HUMAN	CREB3 regulatory factor	256					negative regulation of endoplasmic reticulum unfolded protein response (GO:1900102)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of intracellular transport (GO:0032388)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein transport (GO:0051222)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)										GAGCCAGATTCACACAGATGC	0.468													C|||	3	0.000599042	0.0	0.0	5008	,	,		21682	0.0		0.0	False		,,,				2504	0.0031					uc003mch.2		NaN																	0					0						c.(766-768)CAC>TAC		luman-recruiting factor							70.0	71.0	71.0					5																	172517948		2203	4300	6503	SO:0001583	missense	153222						protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:172517948C>T	AY139008	CCDS34293.1, CCDS54948.1	5q35.2	2012-03-06	2012-03-06	2012-03-06	ENSG00000164463	ENSG00000164463			24050	protein-coding gene	gene with protein product	"""luman/CREB3 recruitment factor"""		"""chromosome 5 open reading frame 41"""	C5orf41		18391022	Standard	NM_153607		Approved	LRF	uc003mch.3	Q8IUR6	OTTHUMG00000163322	ENST00000296953.2:c.766C>T	5.37:g.172517948C>T	ENSP00000296953:p.His256Tyr					C5orf41_uc003mcg.2_Missense_Mutation_p.H256Y|C5orf41_uc003mcf.2_Missense_Mutation_p.H256Y|C5orf41_uc011dfd.1_Missense_Mutation_p.H256Y	p.H256Y	NM_153607	NP_705835	Q8IUR6	CE041_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		4	1070	+	Renal(175;0.000159)|Lung NSC(126;0.00223)|all_lung(126;0.00391)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	256					B3DFH2|B3KW49|D3DQM2|F5GXN3|Q5HYG4|Q5HYK0|Q86YR3|Q8IZG1	Missense_Mutation	SNP	ENST00000296953.2	37	c.766C>T	CCDS34293.1	.	.	.	.	.	.	.	.	.	.	C	9.710	1.156742	0.21454	.	.	ENSG00000164463	ENST00000522692;ENST00000296953;ENST00000540014;ENST00000520420;ENST00000538538;ENST00000393776	T;T	0.46063	0.88;0.88	5.43	5.43	0.79202	.	0.370909	0.31636	N	0.007313	T	0.25195	0.0612	L	0.27053	0.805	0.09310	N	1	B;B	0.19817	0.008;0.039	B;B	0.17098	0.01;0.017	T	0.24048	-1.0171	10	0.02654	T	1	.	10.7026	0.45937	0.1471:0.7109:0.142:0.0	.	256;256	Q8IUR6;Q8IUR6-2	CE041_HUMAN;.	Y	256	ENSP00000296953:H256Y;ENSP00000440075:H256Y	ENSP00000296953:H256Y	H	+	1	0	C5orf41	172450554	0.110000	0.22057	0.028000	0.17463	0.924000	0.55760	2.976000	0.49289	2.549000	0.85964	0.563000	0.77884	CAC		0.468	CREBRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372667.1		NM_153607		14	56	0	0	0	0.020292	0	14	56		
NUP153	9972	broad.mit.edu	37	6	17675190	17675190	+	Silent	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr6:17675190G>A	ENST00000262077.2	-	5	797	c.798C>T	c.(796-798)taC>taT	p.Y266Y	NUP153_ENST00000537253.1_Silent_p.Y266Y	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	266					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			CTGCCCCACCGTATGTTGTTT	0.373																																						uc003ncd.1		NaN																	0				lung(4)|ovary(2)|breast(2)|skin(1)	9						c.(796-798)TAC>TAT		nucleoporin 153kDa							128.0	120.0	123.0					6																	17675190		2203	4300	6503	SO:0001819	synonymous_variant	9972				carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding	g.chr6:17675190G>A	Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"""nucleoporin 153kD"""			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.798C>T	6.37:g.17675190G>A						NUP153_uc011dje.1_Silent_p.Y266Y|NUP153_uc010jpl.1_Silent_p.Y266Y	p.Y266Y	NM_005124	NP_005115	P49790	NU153_HUMAN	all cancers(50;0.0981)|Epithelial(50;0.112)		5	998	-	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	266					B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Silent	SNP	ENST00000262077.2	37	c.798C>T	CCDS4541.1																																																																																				0.373	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039953.1				17	60	0	0	0	0.00499	0	17	60		
GPLD1	2822	broad.mit.edu	37	6	24429286	24429286	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr6:24429286G>C	ENST00000230036.1	-	25	2607	c.2497C>G	c.(2497-2499)Cac>Gac	p.H833D		NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	833					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to calcium ion (GO:0071277)|cellular response to cholesterol (GO:0071397)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|cellular response to pH (GO:0071467)|cellular response to triglyceride (GO:0071401)|chondrocyte differentiation (GO:0002062)|complement receptor mediated signaling pathway (GO:0002430)|GPI anchor release (GO:0006507)|hematopoietic stem cell migration (GO:0035701)|hematopoietic stem cell migration to bone marrow (GO:0097241)|insulin receptor signaling pathway (GO:0008286)|negative regulation of cell proliferation (GO:0008285)|negative regulation of triglyceride catabolic process (GO:0010897)|ossification (GO:0001503)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of secretion (GO:0051047)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cellular response to insulin stimulus (GO:1900076)|response to glucose (GO:0009749)|transepithelial transport (GO:0070633)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|proteinaceous extracellular matrix (GO:0005578)	glycosylphosphatidylinositol phospholipase D activity (GO:0004621)|phospholipase D activity (GO:0004630)|sodium channel regulator activity (GO:0017080)			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						CTATAGACGTGAAGTGCCCCG	0.488																																						uc003ned.1		NaN																	0				ovary(2)|kidney(1)	3						c.(2497-2499)CAC>GAC		glycosylphosphatidylinositol specific							98.0	87.0	91.0					6																	24429286		2203	4300	6503	SO:0001583	missense	2822					extracellular region	glycosylphosphatidylinositol phospholipase D activity	g.chr6:24429286G>C	L11701	CCDS4553.1	6p22.1	2008-02-05			ENSG00000112293	ENSG00000112293			4459	protein-coding gene	gene with protein product		602515				11072085	Standard	NM_001503		Approved		uc003ned.2	P80108	OTTHUMG00000016104	ENST00000230036.1:c.2497C>G	6.37:g.24429286G>C	ENSP00000230036:p.His833Asp						p.H833D	NM_001503	NP_001494	P80108	PHLD_HUMAN			25	2608	-			833			FG-GAP 7.		Q15127|Q15128|Q2M2F2|Q5T3Y0|Q7Z6T8|Q8TCV0|Q8WW82|Q96ID6|Q9H167|Q9H4M1|Q9UJC9	Missense_Mutation	SNP	ENST00000230036.1	37	c.2497C>G	CCDS4553.1	.	.	.	.	.	.	.	.	.	.	G	12.77	2.038929	0.35989	.	.	ENSG00000112293	ENST00000230036	T	0.66460	-0.21	5.29	5.29	0.74685	.	0.151272	0.45361	D	0.000368	T	0.53351	0.1791	M	0.72118	2.19	0.80722	D	1	P	0.49961	0.93	B	0.39299	0.296	T	0.63554	-0.6611	10	0.54805	T	0.06	-27.6958	11.8674	0.52501	0.0833:0.0:0.9167:0.0	.	833	P80108	PHLD_HUMAN	D	833	ENSP00000230036:H833D	ENSP00000230036:H833D	H	-	1	0	GPLD1	24537265	1.000000	0.71417	0.994000	0.49952	0.407000	0.30961	3.592000	0.53993	2.744000	0.94065	0.655000	0.94253	CAC		0.488	GPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043315.1		NM_001503		8	48	0	0	0	0.00308	0	8	48		
MDC1	9656	broad.mit.edu	37	6	30675515	30675515	+	Silent	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr6:30675515C>T	ENST00000376406.3	-	8	3488	c.2841G>A	c.(2839-2841)caG>caA	p.Q947Q	MDC1_ENST00000376405.2_Intron|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	947				Missing (in Ref. 2; CAH18685). {ECO:0000305}.	DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						GCTCCCCTCTCTGTGTATCTC	0.592								Other conserved DNA damage response genes																														uc003nrg.3		NaN																	0				breast(2)|ovary(1)|kidney(1)	4						c.(2839-2841)CAG>CAA	Other_conserved_DNA_damage_response_genes	mediator of DNA-damage checkpoint 1							90.0	99.0	96.0					6																	30675515		1508	2708	4216	SO:0001819	synonymous_variant	9656				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	g.chr6:30675515C>T	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.2841G>A	6.37:g.30675515C>T						MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Intron	p.Q947Q	NM_014641	NP_055456	Q14676	MDC1_HUMAN			8	3281	-			947	Missing (in Ref. 2; CAH18685).				A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Silent	SNP	ENST00000376406.3	37	c.2841G>A	CCDS34384.1																																																																																				0.592	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1		NM_014641		24	98	0	0	0	0.014323	0	24	98		
COL11A2	1302	broad.mit.edu	37	6	33142356	33142356	+	Splice_Site	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr6:33142356C>T	ENST00000374708.4	-	29	2378	c.2120G>A	c.(2119-2121)gGc>gAc	p.G707D	COL11A2_ENST00000357486.1_Splice_Site_p.G772D|COL11A2_ENST00000341947.2_Splice_Site_p.G793D|COL11A2_ENST00000374712.1_Splice_Site_p.G712D|COL11A2_ENST00000374713.1_Splice_Site_p.G746D|COL11A2_ENST00000395197.1_Splice_Site_p.G733D|COL11A2_ENST00000361917.1_Splice_Site_p.G686D|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374714.1_Splice_Site_p.G767D	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	793	Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						ACCCAGCTTGCCCTGTGGAGG	0.617																																					Melanoma(1;90 116 3946 5341 17093)	uc003ocx.1		NaN																	0				ovary(3)|skin(2)	5						c.(2377-2379)GGC>GAC		collagen, type XI, alpha 2 isoform 1							139.0	72.0	96.0					6																	33142356		1511	2709	4220	SO:0001630	splice_region_variant	1302				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	g.chr6:33142356C>T	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"""Collagens"""	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.2119-1G>A	6.37:g.33142356C>T						COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Missense_Mutation_p.G707D|COL11A2_uc003ocz.1_Missense_Mutation_p.G686D	p.G793D	NM_080680	NP_542411	P13942	COBA2_HUMAN			31	2606	-			793			Triple-helical region.		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	ENST00000374708.4	37	c.2378G>A	CCDS43452.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.603058	0.87157	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917	D;D;D;D;D;D;D;D	0.99176	-5.52;-5.52;-5.52;-5.52;-5.52;-5.52;-5.52;-5.52	4.5	4.5	0.54988	.	0.000000	0.85682	D	0.000000	D	0.99438	0.9801	M	0.93594	3.435	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.998;0.99	D	0.98468	1.0599	10	0.87932	D	0	.	14.7405	0.69451	0.0:1.0:0.0:0.0	.	686;707;793	P13942-8;P13942-6;P13942	.;.;COBA2_HUMAN	D	707;793;772;767;746;733;712;686	ENSP00000363840:G707D;ENSP00000339915:G793D;ENSP00000350079:G772D;ENSP00000363846:G767D;ENSP00000363845:G746D;ENSP00000378623:G733D;ENSP00000363844:G712D;ENSP00000355123:G686D	ENSP00000339915:G793D	G	-	2	0	COL11A2	33250334	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.958000	0.76025	2.336000	0.79503	0.448000	0.29417	GGC		0.617	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2			Missense_Mutation	3	37	0	0	0	0.009096	0	3	37		
DNAH8	1769	broad.mit.edu	37	6	38854693	38854693	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr6:38854693C>T	ENST00000359357.3	+	55	7989	c.7735C>T	c.(7735-7737)Cga>Tga	p.R2579*	DNAH8_ENST00000441566.1_Nonsense_Mutation_p.R2543*|DNAH8_ENST00000449981.2_Nonsense_Mutation_p.R2796*			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	2579	AAA 3. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TGGAGGTGGTCGAAATGATAT	0.378																																						uc003ooe.1		NaN																	0				skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.(7735-7737)CGA>TGA		dynein, axonemal, heavy polypeptide 8							147.0	136.0	139.0					6																	38854693		2203	4300	6503	SO:0001587	stop_gained	1769							g.chr6:38854693C>T	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.7735C>T	6.37:g.38854693C>T	ENSP00000352312:p.Arg2579*						p.R2579*	NM_001371	NP_001362					55	8335	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Nonsense_Mutation	SNP	ENST00000359357.3	37	c.7735C>T		.	.	.	.	.	.	.	.	.	.	C	50	17.037757	0.99878	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	.	.	.	5.33	3.39	0.38822	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.7482	0.57293	0.4246:0.5754:0.0:0.0	.	.	.	.	X	2784;2784;2579;2543	.	ENSP00000333363:R2784X	R	+	1	2	DNAH8	38962671	0.912000	0.30974	1.000000	0.80357	0.995000	0.86356	1.256000	0.32921	1.211000	0.43351	0.561000	0.74099	CGA		0.378	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1		NM_001206927		20	72	0	0	0	0.007413	0	20	72		
PKHD1	5314	broad.mit.edu	37	6	51524597	51524597	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr6:51524597T>C	ENST00000371117.3	-	61	10602	c.10327A>G	c.(10327-10329)Agt>Ggt	p.S3443G		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3443					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)					GCATTTACACTGCTAAAGACA	0.413																																						uc003pah.1		NaN																	0				lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44						c.(10327-10329)AGT>GGT		fibrocystin isoform 1							112.0	105.0	107.0					6																	51524597		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.chr6:51524597T>C	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.10327A>G	6.37:g.51524597T>C	ENSP00000360158:p.Ser3443Gly						p.S3443G	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			61	10603	-	Lung NSC(77;0.0605)		3443			Extracellular (Potential).		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.10327A>G	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	T	3.331	-0.136601	0.06711	.	.	ENSG00000170927	ENST00000371117	D	0.82433	-1.61	5.72	1.9	0.25705	.	0.467850	0.23014	N	0.052937	T	0.37376	0.1001	N	0.17082	0.46	0.09310	N	1	B	0.15141	0.012	B	0.11329	0.006	T	0.40757	-0.9546	10	0.02654	T	1	.	5.5955	0.17325	0.0:0.2287:0.1352:0.636	.	3443	P08F94	PKHD1_HUMAN	G	3443	ENSP00000360158:S3443G	ENSP00000360158:S3443G	S	-	1	0	PKHD1	51632556	0.000000	0.05858	0.689000	0.30133	0.668000	0.39293	-0.125000	0.10579	0.084000	0.17077	-0.256000	0.11100	AGT		0.413	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1		NM_138694		27	101	0	0	0	0.021523	0	27	101		
MANEA	79694	broad.mit.edu	37	6	96053848	96053848	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr6:96053848G>A	ENST00000358812.4	+	5	1090	c.956G>A	c.(955-957)gGa>gAa	p.G319E	MANEA_ENST00000474553.1_3'UTR	NM_024641.3	NP_078917.2	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	319	Catalytic. {ECO:0000305}.				cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)			breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		GGTTTTGATGGAATTTACACA	0.338																																						uc003poo.1		NaN																	0				ovary(2)|breast(1)	3						c.(955-957)GGA>GAA		mannosidase, endo-alpha							73.0	73.0	73.0					6																	96053848		2203	4300	6503	SO:0001583	missense	79694				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity	g.chr6:96053848G>A	AK022900	CCDS5032.1	6q16.2	2008-02-05			ENSG00000172469	ENSG00000172469			21072	protein-coding gene	gene with protein product		612327					Standard	NM_024641		Approved	FLJ12838, mandaselin	uc003poo.2	Q5SRI9	OTTHUMG00000016296	ENST00000358812.4:c.956G>A	6.37:g.96053848G>A	ENSP00000351669:p.Gly319Glu						p.G319E	NM_024641	NP_078917	Q5SRI9	MANEA_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.148)	5	1096	+		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)	319			Catalytic (Probable).|Lumenal (Potential).		A6H8M6|Q5SRJ0|Q6MZV0|Q70JE9|Q7Z3V7|Q8WWX5|Q9H9D2	Missense_Mutation	SNP	ENST00000358812.4	37	c.956G>A	CCDS5032.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.852058	0.91355	.	.	ENSG00000172469	ENST00000358812	D	0.91686	-2.89	6.17	6.17	0.99709	.	0.100999	0.64402	D	0.000001	D	0.96889	0.8984	M	0.90542	3.125	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96305	0.9224	10	0.59425	D	0.04	-18.5039	19.8676	0.96824	0.0:0.0:1.0:0.0	.	319	Q5SRI9	MANEA_HUMAN	E	319	ENSP00000351669:G319E	ENSP00000351669:G319E	G	+	2	0	MANEA	96160569	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.357000	0.97099	2.941000	0.99782	0.655000	0.94253	GGA		0.338	MANEA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043644.1		NM_024641		10	40	0	0	0	0.008291	0	10	40		
NCOA7	135112	broad.mit.edu	37	6	126210736	126210736	+	Silent	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr6:126210736C>T	ENST00000368357.3	+	10	1888	c.1536C>T	c.(1534-1536)aaC>aaT	p.N512N	NCOA7_ENST00000392477.2_Silent_p.N512N|NCOA7_ENST00000229634.9_Silent_p.N397N	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	512					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		ACACACTGAACATACATGAAG	0.388																																						uc010kes.2		NaN																	0				lung(2)|ovary(1)	3						c.(1534-1536)AAC>AAT		nuclear receptor coactivator 7 isoform 1							44.0	46.0	45.0					6																	126210736		2202	4300	6502	SO:0001819	synonymous_variant	135112				cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr6:126210736C>T	AJ420542	CCDS5132.1, CCDS56448.1	6q22.33	2013-03-14			ENSG00000111912	ENSG00000111912			21081	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 4"""	609752				11971969	Standard	NM_001199619		Approved	ERAP140, dJ187J11.3, TLDC4	uc003qai.3	Q8NI08	OTTHUMG00000015513	ENST00000368357.3:c.1536C>T	6.37:g.126210736C>T						NCOA7_uc003qae.3_Silent_p.N512N|NCOA7_uc003qah.2_Silent_p.N501N|NCOA7_uc003qai.2_Silent_p.N512N|NCOA7_uc010ket.2_Silent_p.N397N	p.N512N	NM_181782	NP_861447	Q8NI08	NCOA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)	11	1985	+			512	LNIHEDL->ANAHEDA: No action on the E2- induced ESR1 binding.				B2RNS2|B7Z2C4|B9EH71|G8JL91|Q3LID6|Q4G0V1|Q5TF95|Q6IPQ4|Q6NE83|Q86T89|Q8N1W4	Silent	SNP	ENST00000368357.3	37	c.1536C>T	CCDS5132.1																																																																																				0.388	NCOA7-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042083.4		XM_059748		14	63	0	0	0	0.020292	0	14	63		
CNKSR3	154043	broad.mit.edu	37	6	154732170	154732170	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr6:154732170G>C	ENST00000607772.1	-	11	1721	c.1177C>G	c.(1177-1179)Cgg>Ggg	p.R393G	CNKSR3_ENST00000479339.1_Missense_Mutation_p.R313G|CNKSR3_ENST00000433165.2_Missense_Mutation_p.R218G	NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	393	DUF1170.				negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)	cytoplasm (GO:0005737)|membrane (GO:0016020)				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		CTTCGTCTCCGGCTTTCCTGG	0.483																																						uc003qpy.2		NaN																	0				ovary(2)|breast(1)|skin(1)	4						c.(1177-1179)CGG>GGG		CNKSR family member 3							144.0	140.0	141.0					6																	154732170		2203	4300	6503	SO:0001583	missense	154043				negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane		g.chr6:154732170G>C	AK055911	CCDS5246.1	6q25.2	2013-01-10	2005-04-11	2005-04-11	ENSG00000153721	ENSG00000153721		"""Sterile alpha motif (SAM) domain containing"""	23034	protein-coding gene	gene with protein product			"""membrane associated guanylate kinase interacting protein-like 1"""	MAGI1			Standard	NM_173515		Approved	FLJ31349		Q6P9H4	OTTHUMG00000015873	ENST00000607772.1:c.1177C>G	6.37:g.154732170G>C	ENSP00000475915:p.Arg393Gly						p.R393G	NM_173515	NP_775786	Q6P9H4	CNKR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)	11	1682	-		Ovarian(120;0.196)	393			DUF1170.		Q5SGD5|Q96N65	Missense_Mutation	SNP	ENST00000607772.1	37	c.1177C>G	CCDS5246.1	.	.	.	.	.	.	.	.	.	.	G	14.59	2.579693	0.46006	.	.	ENSG00000153721	ENST00000367209;ENST00000367213;ENST00000433165;ENST00000479339;ENST00000424998	T;T;T	0.48836	1.39;0.8;0.8	5.45	4.56	0.56223	Connector enhancer of kinase suppressor of ras 2 (1);	0.298544	0.31134	N	0.008196	T	0.23688	0.0573	L	0.42245	1.32	0.24656	N	0.993492	P	0.40578	0.722	B	0.40477	0.33	T	0.08764	-1.0706	10	0.22706	T	0.39	.	13.8568	0.63531	0.0:0.0:0.6982:0.3018	.	393	Q6P9H4	CNKR3_HUMAN	G	168;393;218;313;155	ENSP00000356182:R393G;ENSP00000414185:R218G;ENSP00000418975:R313G	ENSP00000356178:R168G	R	-	1	2	CNKSR3	154773862	1.000000	0.71417	0.977000	0.42913	0.827000	0.46813	2.603000	0.46266	1.219000	0.43474	0.655000	0.94253	CGG		0.483	CNKSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042792.2		NM_173515		14	150	0	0	0	0.016723	0	14	150		
SEMA3D	223117	broad.mit.edu	37	7	84651768	84651768	+	Silent	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr7:84651768C>T	ENST00000284136.6	-	11	1396	c.1353G>A	c.(1351-1353)caG>caA	p.Q451Q	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	451	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						CCACCACTATCTGTGTCAGTC	0.403																																					Ovarian(63;442 1191 17318 29975 31528)	uc003uic.2		NaN																	0				ovary(3)|large_intestine(2)	5						c.(1351-1353)CAG>CAA		semaphorin 3D precursor							276.0	244.0	255.0					7																	84651768		2203	4300	6503	SO:0001819	synonymous_variant	223117				cell differentiation|nervous system development	extracellular region|membrane	receptor activity	g.chr7:84651768C>T	BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"""Semaphorins"", ""Immunoglobulin superfamily / V-set domain containing"""	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.1353G>A	7.37:g.84651768C>T						SEMA3D_uc010led.2_Silent_p.Q451Q|SEMA3D_uc003uib.2_Silent_p.Q90Q	p.Q451Q	NM_152754	NP_689967	O95025	SEM3D_HUMAN			11	1393	-			451			Sema.		A6NK46|Q6UW77|Q8NCQ1	Silent	SNP	ENST00000284136.6	37	c.1353G>A	CCDS34676.1																																																																																				0.403	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2		NM_152754		34	160	0	0	0	0.019004	0	34	160		
MEPCE	56257	broad.mit.edu	37	7	100028509	100028509	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr7:100028509C>A	ENST00000310512.2	+	1	1256	c.868C>A	c.(868-870)Ctc>Atc	p.L290I	MEPCE_ENST00000414441.1_5'UTR|ZCWPW1_ENST00000398027.2_5'Flank|ZCWPW1_ENST00000360951.4_5'Flank|ZCWPW1_ENST00000324725.6_5'Flank	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	290					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|RNA methylation (GO:0001510)|snRNA metabolic process (GO:0016073)|snRNA modification (GO:0040031)		poly(A) RNA binding (GO:0044822)|RNA methyltransferase activity (GO:0008173)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CACAGCCCCTCTCACCCCCTT	0.667																																						uc003uuw.2		NaN																	0				upper_aerodigestive_tract(1)	1						c.(868-870)CTC>ATC		bin3, bicoid-interacting 3							63.0	66.0	65.0					7																	100028509		2203	4299	6502	SO:0001583	missense	56257						methyltransferase activity	g.chr7:100028509C>A	AF264752	CCDS5693.1, CCDS55136.1	7q22.1	2008-02-04	2007-07-26	2007-07-26	ENSG00000146834	ENSG00000146834			20247	protein-coding gene	gene with protein product		611478	"""bin3, bicoid-interacting 3, homolog (Drosophila)"""	BCDIN3		12358911, 17643375	Standard	NM_019606		Approved	FLJ20257, MePCE	uc003uuw.3	Q7L2J0	OTTHUMG00000155255	ENST00000310512.2:c.868C>A	7.37:g.100028509C>A	ENSP00000308546:p.Leu290Ile					ZCWPW1_uc003uut.2_5'Flank|ZCWPW1_uc011kjr.1_5'Flank|ZCWPW1_uc003uuu.1_5'Flank|ZCWPW1_uc011kjt.1_5'Flank|ZCWPW1_uc011kju.1_5'Flank|MEPCE_uc003uuv.2_5'UTR	p.L290I	NM_019606	NP_062552	Q7L2J0	MEPCE_HUMAN			1	981	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		290					B3KP86|D6W5V7|Q9NPD4	Missense_Mutation	SNP	ENST00000310512.2	37	c.868C>A	CCDS5693.1	.	.	.	.	.	.	.	.	.	.	C	10.68	1.418120	0.25552	.	.	ENSG00000146834	ENST00000310512	.	.	.	4.73	2.76	0.32466	.	0.883001	0.09854	N	0.747238	T	0.25457	0.0619	N	0.19112	0.55	0.24529	N	0.994125	B	0.22003	0.063	B	0.19946	0.027	T	0.17228	-1.0376	9	0.33141	T	0.24	-12.3229	4.8478	0.13523	0.2271:0.663:0.0:0.11	.	290	Q7L2J0	MEPCE_HUMAN	I	290	.	ENSP00000308546:L290I	L	+	1	0	MEPCE	99866445	0.348000	0.24861	0.992000	0.48379	0.561000	0.35649	1.351000	0.34022	1.223000	0.43536	0.462000	0.41574	CTC		0.667	MEPCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339135.1				36	102	1	0	4.34311e-12	0.015359	4.60369e-12	36	102		
DOCK4	9732	broad.mit.edu	37	7	111580178	111580178	+	Silent	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr7:111580178G>A	ENST00000437633.1	-	11	1220	c.964C>T	c.(964-966)Ctg>Ttg	p.L322L	DOCK4_ENST00000476846.1_5'UTR|DOCK4_ENST00000428084.1_Silent_p.L322L	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	322					cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TATACTTTCAGAATGAGGTCA	0.493																																						uc003vfx.2		NaN																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4						c.(964-966)CTG>TTG		dedicator of cytokinesis 4							128.0	131.0	130.0					7																	111580178		1964	4164	6128	SO:0001819	synonymous_variant	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111580178G>A		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.964C>T	7.37:g.111580178G>A						DOCK4_uc003vfy.2_Silent_p.L322L|DOCK4_uc003vga.1_5'UTR|DOCK4_uc010ljt.1_Silent_p.L322L	p.L322L	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN			11	1233	-		Acute lymphoblastic leukemia(1;0.0441)	322					O14584|O94824|Q8NB45	Silent	SNP	ENST00000437633.1	37	c.964C>T	CCDS47688.1																																																																																				0.493	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4		NM_014705		12	67	0	0	0	0.013537	0	12	67		
CREB3L2	64764	broad.mit.edu	37	7	137590506	137590506	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr7:137590506G>A	ENST00000330387.6	-	6	1208	c.857C>T	c.(856-858)cCc>cTc	p.P286L	CREB3L2_ENST00000456390.1_Missense_Mutation_p.P286L	NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like 2	286					cartilage development (GO:0051216)|chondrocyte differentiation (GO:0002062)|ER to Golgi vesicle-mediated transport (GO:0006888)|positive regulation of transcription, DNA-templated (GO:0045893)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	cAMP response element binding (GO:0035497)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)		FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						TTTTGACAGGGGCAATTTGGT	0.522			T	FUS	fibromyxoid sarcoma																																	uc003vtw.2		NaN		Dom	yes		7	7q34	64764	T	cAMP responsive element binding protein 3-like 2			M	FUS		fibromyxoid sarcoma	FUS/CREB3L2(158)	0				soft_tissue(158)|upper_aerodigestive_tract(1)|ovary(1)	160						c.(856-858)CCC>CTC		cAMP responsive element binding protein 3-like							162.0	167.0	165.0					7																	137590506		2203	4300	6503	SO:0001583	missense	64764				chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:137590506G>A	AJ549092	CCDS34760.1, CCDS59083.1	7q34	2013-01-10			ENSG00000182158	ENSG00000182158		"""basic leucine zipper proteins"""	23720	protein-coding gene	gene with protein product		608834					Standard	NM_194071		Approved	BBF2H7, TCAG_1951439	uc003vtw.3	Q70SY1	OTTHUMG00000155744	ENST00000330387.6:c.857C>T	7.37:g.137590506G>A	ENSP00000329140:p.Pro286Leu					CREB3L2_uc003vtx.1_Missense_Mutation_p.P286L|CREB3L2_uc003vtv.2_Missense_Mutation_p.P223L	p.P286L	NM_194071	NP_919047	Q70SY1	CR3L2_HUMAN			6	1252	-			286			Cytoplasmic (Potential).		Q6P454|Q6ZMR6	Missense_Mutation	SNP	ENST00000330387.6	37	c.857C>T	CCDS34760.1	.	.	.	.	.	.	.	.	.	.	G	35	5.431454	0.96150	.	.	ENSG00000182158	ENST00000330387;ENST00000456390	D;D	0.85171	-1.95;-1.95	5.65	5.65	0.86999	Eukaryotic transcription factor, Skn-1-like, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.94155	0.8125	M	0.89904	3.07	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94669	0.7855	10	0.72032	D	0.01	0.1831	19.7272	0.96168	0.0:0.0:1.0:0.0	.	286;286	Q70SY1-2;Q70SY1	.;CR3L2_HUMAN	L	286	ENSP00000329140:P286L;ENSP00000403550:P286L	ENSP00000329140:P286L	P	-	2	0	CREB3L2	137241046	1.000000	0.71417	0.997000	0.53966	0.977000	0.68977	9.684000	0.98659	2.646000	0.89796	0.655000	0.94253	CCC		0.522	CREB3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341462.1		NM_194071		34	161	0	0	0	0.015359	0	34	161		
VIPR2	7434	broad.mit.edu	37	7	158935195	158935195	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr7:158935195G>A	ENST00000262178.2	-	2	279	c.94C>T	c.(94-96)Cag>Tag	p.Q32*	VIPR2_ENST00000421760.2_Nonsense_Mutation_p.Q32*|VIPR2_ENST00000402066.1_Nonsense_Mutation_p.Q173*	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	32					activation of adenylate cyclase activity (GO:0007190)|cell-cell signaling (GO:0007267)|negative regulation of smooth muscle cell proliferation (GO:0048662)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|vasoactive intestinal polypeptide receptor activity (GO:0004999)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		TCTTCCTCCTGTATTTCCAGA	0.398																																					Pancreas(154;1876 1931 2329 17914 20079)	uc003woh.2		NaN																	0				lung(1)|central_nervous_system(1)	2						c.(94-96)CAG>TAG		vasoactive intestinal peptide receptor 2							203.0	192.0	196.0					7																	158935195		2203	4298	6501	SO:0001587	stop_gained	7434				cell-cell signaling	integral to plasma membrane		g.chr7:158935195G>A	CA449700, X95097	CCDS5950.1	7q36.3	2012-08-10			ENSG00000106018	ENSG00000106018		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	12695	protein-coding gene	gene with protein product	"""VIP and PACAP receptor 2"""	601970				7811244	Standard	NM_003382		Approved	VPAC2, VPAC2R	uc003woh.3	P41587	OTTHUMG00000151446	ENST00000262178.2:c.94C>T	7.37:g.158935195G>A	ENSP00000262178:p.Gln32*					VIPR2_uc010lqx.2_RNA|VIPR2_uc010lqy.2_RNA	p.Q32*	NM_003382	NP_003373	P41587	VIPR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)	2	280	-	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	32			Extracellular (Potential).		Q13053|Q15870|Q53Y09|Q6ZN22|Q9UCW0	Nonsense_Mutation	SNP	ENST00000262178.2	37	c.94C>T	CCDS5950.1	.	.	.	.	.	.	.	.	.	.	G	38	7.040947	0.98021	.	.	ENSG00000106018	ENST00000262178;ENST00000402066;ENST00000421760	.	.	.	5.09	5.09	0.68999	.	0.136724	0.31809	N	0.007026	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3407	0.66624	0.0:0.0:1.0:0.0	.	.	.	.	X	32;173;32	.	.	Q	-	1	0	VIPR2	158627956	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	4.261000	0.58841	2.527000	0.85204	0.591000	0.81541	CAG		0.398	VIPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322675.1		NM_003382		23	99	0	0	0	0.021523	0	23	99		
MTUS1	57509	broad.mit.edu	37	8	17611479	17611479	+	Missense_Mutation	SNP	T	T	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr8:17611479T>G	ENST00000262102.6	-	2	2062	c.1838A>C	c.(1837-1839)gAa>gCa	p.E613A	MTUS1_ENST00000519263.1_Missense_Mutation_p.E613A|MTUS1_ENST00000381869.3_Missense_Mutation_p.E613A|MTUS1_ENST00000381862.3_Missense_Mutation_p.E613A	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	613					cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		GTCAACATCTTCCTGATTCGA	0.428																																						uc003wxv.2		NaN																	0				ovary(1)|skin(1)	2						c.(1837-1839)GAA>GCA		mitochondrial tumor suppressor 1 isoform 1							177.0	163.0	167.0					8																	17611479		1907	4120	6027	SO:0001583	missense	57509					Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle		g.chr8:17611479T>G	AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"""AT2 receptor-interacting protein"", ""AT2R binding protein"", ""mitochondrial tumor suppressor gene 1"""	609589	"""mitochondrial tumor suppressor 1"""			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.1838A>C	8.37:g.17611479T>G	ENSP00000262102:p.Glu613Ala					MTUS1_uc010lsy.2_RNA|MTUS1_uc003wxw.2_Missense_Mutation_p.E613A|MTUS1_uc010lsz.2_Missense_Mutation_p.E613A	p.E613A	NM_001001924	NP_001001924	Q9ULD2	MTUS1_HUMAN		Colorectal(111;0.0778)	2	2312	-			613					A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Missense_Mutation	SNP	ENST00000262102.6	37	c.1838A>C	CCDS43717.1	.	.	.	.	.	.	.	.	.	.	T	18.23	3.576890	0.65878	.	.	ENSG00000129422	ENST00000381869;ENST00000262102;ENST00000519263;ENST00000381862	T;T;T;T	0.36699	2.88;1.24;2.88;1.91	4.96	3.82	0.43975	.	0.610727	0.15529	N	0.257584	T	0.41351	0.1155	L	0.32530	0.975	0.32859	D	0.507756	D;D;D	0.63046	0.992;0.971;0.971	P;P;P	0.56865	0.808;0.536;0.536	T	0.52388	-0.8582	10	0.62326	D	0.03	-14.8728	11.0022	0.47614	0.0:0.0783:0.0:0.9217	.	613;613;613	Q9ULD2-5;Q9ULD2-2;Q9ULD2	.;.;MTUS1_HUMAN	A	613	ENSP00000371293:E613A;ENSP00000262102:E613A;ENSP00000430167:E613A;ENSP00000371286:E613A	ENSP00000262102:E613A	E	-	2	0	MTUS1	17655759	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.671000	0.46842	2.216000	0.71823	0.533000	0.62120	GAA		0.428	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1		XM_372031		33	125	0	0	0	0.015359	0	33	125		
PREX2	80243	broad.mit.edu	37	8	68956794	68956794	+	Silent	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr8:68956794G>C	ENST00000288368.4	+	8	1189	c.912G>C	c.(910-912)gtG>gtC	p.V304V	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	304	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						ACACGGAGGTGATGGAAGTGG	0.413																																						uc003xxv.1		NaN																	0				skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						c.(910-912)GTG>GTC		DEP domain containing 2 isoform a							159.0	148.0	152.0					8																	68956794		2203	4300	6503	SO:0001819	synonymous_variant	80243				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:68956794G>C	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.912G>C	8.37:g.68956794G>C						PREX2_uc003xxu.1_Silent_p.V304V|PREX2_uc011lez.1_Silent_p.V239V	p.V304V	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN			8	939	+			304			PH.		B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Silent	SNP	ENST00000288368.4	37	c.912G>C	CCDS6201.1																																																																																				0.413	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1		NM_025170		13	120	0	0	0	0.024245	0	13	120		
ZC2HC1A	51101	broad.mit.edu	37	8	79609675	79609675	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr8:79609675C>G	ENST00000263849.4	+	6	640	c.538C>G	c.(538-540)Cct>Gct	p.P180A	ZC2HC1A_ENST00000521176.1_3'UTR	NM_016010.2	NP_057094.2	Q96GY0	ZC21A_HUMAN	zinc finger, C2HC-type containing 1A	180							metal ion binding (GO:0046872)										GTCAAATTCTCCTGGAACTGC	0.368																																						uc003ybd.2		NaN																	0				ovary(1)	1						c.(538-540)CCT>GCT		hypothetical protein LOC51101							69.0	69.0	69.0					8																	79609675		2203	4300	6503	SO:0001583	missense	51101							g.chr8:79609675C>G		CCDS6223.1	8q21.11	2013-01-10	2012-02-03	2012-02-03	ENSG00000104427	ENSG00000104427		"""Zinc fingers, C2HC-type containing"""	24277	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 70"", ""family with sequence similarity 164, member A"""	C8orf70, FAM164A		10810093	Standard	NM_016010		Approved	CGI-62	uc003ybd.3	Q96GY0	OTTHUMG00000164619	ENST00000263849.4:c.538C>G	8.37:g.79609675C>G	ENSP00000263849:p.Pro180Ala						p.P180A	NM_016010	NP_057094	Q96GY0	F164A_HUMAN			6	640	+			180					Q9Y372	Missense_Mutation	SNP	ENST00000263849.4	37	c.538C>G	CCDS6223.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.38|13.38	2.218612|2.218612	0.39201|0.39201	.|.	.|.	ENSG00000104427|ENSG00000104427	ENST00000263849|ENST00000519307	T|.	0.44881|.	0.91|.	5.48|5.48	5.48|5.48	0.80851|0.80851	.|.	0.271187|.	0.42964|.	D|.	0.000638|.	T|T	0.65302|0.65302	0.2678|0.2678	M|M	0.63428|0.63428	1.95|1.95	0.80722|0.80722	D|D	1|1	B|.	0.10296|.	0.003|.	B|.	0.08055|.	0.003|.	T|T	0.63274|0.63274	-0.6674|-0.6674	9|5	.|.	.|.	.|.	-17.9739|-17.9739	11.6794|11.6794	0.51448|0.51448	0.129:0.7309:0.1401:0.0|0.129:0.7309:0.1401:0.0	.|.	180|.	Q96GY0|.	F164A_HUMAN|.	A|C	180|12	ENSP00000263849:P180A|.	.|.	P|S	+|+	1|2	0|0	FAM164A|FAM164A	79772230|79772230	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	2.184000|2.184000	0.42575|0.42575	2.733000|2.733000	0.93635|0.93635	0.655000|0.655000	0.94253|0.94253	CCT|TCC		0.368	ZC2HC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379423.2		NM_016010		9	55	0	0	0	0.006214	0	9	55		
CNBD1	168975	broad.mit.edu	37	8	88218312	88218312	+	Silent	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr8:88218312C>T	ENST00000518476.1	+	5	574	c.523C>T	c.(523-525)Ctg>Ttg	p.L175L	CNBD1_ENST00000522427.1_3'UTR	NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	175										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						TGATAAGCATCTGAAAACACT	0.398																																						uc003ydy.2		NaN																	0				ovary(3)	3						c.(523-525)CTG>TTG		cyclic nucleotide binding domain containing 1							73.0	69.0	70.0					8																	88218312		1853	4090	5943	SO:0001819	synonymous_variant	168975							g.chr8:88218312C>T	AK093121	CCDS55259.1	8q21.3	2005-08-09				ENSG00000176571			26663	protein-coding gene	gene with protein product							Standard	NM_173538		Approved	FLJ35802	uc003ydy.2	Q8NA66		ENST00000518476.1:c.523C>T	8.37:g.88218312C>T							p.L175L	NM_173538	NP_775809	Q8NA66	CNBD1_HUMAN			5	571	+			175						Silent	SNP	ENST00000518476.1	37	c.523C>T	CCDS55259.1																																																																																				0.398	CNBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375113.2		NM_173538		5	30	0	0	0	0.014758	0	5	30		
ATAD2	29028	broad.mit.edu	37	8	124383508	124383508	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr8:124383508C>G	ENST00000287394.5	-	5	714	c.607G>C	c.(607-609)Gaa>Caa	p.E203Q	ATAD2_ENST00000534257.1_5'Flank|ATAD2_ENST00000521903.1_5'UTR	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	203					ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			CCCAAGTCTTCAAGTTCTCTC	0.308																																						uc003yqh.3		NaN																	0				ovary(2)	2						c.(607-609)GAA>CAA		ATPase family, AAA domain containing 2							86.0	85.0	86.0					8																	124383508		2203	4299	6502	SO:0001583	missense	29028				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	g.chr8:124383508C>G	BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"""ATPases / AAA-type"""	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.607G>C	8.37:g.124383508C>G	ENSP00000287394:p.Glu203Gln					ATAD2_uc011lii.1_5'UTR|ATAD2_uc003yqi.3_RNA|ATAD2_uc003yqj.2_Missense_Mutation_p.E203Q	p.E203Q	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		5	715	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		203					Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Missense_Mutation	SNP	ENST00000287394.5	37	c.607G>C	CCDS6343.1	.	.	.	.	.	.	.	.	.	.	C	16.62	3.173676	0.57584	.	.	ENSG00000156802	ENST00000287394	T	0.34275	1.37	5.06	5.06	0.68205	.	1.270430	0.04922	N	0.455242	T	0.54532	0.1864	M	0.68952	2.095	0.80722	D	1	P;D	0.55605	0.859;0.972	P;P	0.49887	0.447;0.625	T	0.50101	-0.8867	10	0.48119	T	0.1	-10.0279	18.0327	0.89290	0.0:1.0:0.0:0.0	.	33;203	Q6PL18-2;Q6PL18	.;ATAD2_HUMAN	Q	203	ENSP00000287394:E203Q	ENSP00000287394:E203Q	E	-	1	0	ATAD2	124452689	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.155000	0.50700	2.351000	0.79841	0.555000	0.69702	GAA		0.308	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2		NM_014109		8	28	0	0	0	0.004482	0	8	28		
SCRIB	23513	broad.mit.edu	37	8	144886946	144886946	+	Missense_Mutation	SNP	A	A	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr8:144886946A>T	ENST00000320476.3	-	21	2807	c.2801T>A	c.(2800-2802)cTg>cAg	p.L934Q	SCRIB_ENST00000356994.2_Missense_Mutation_p.L934Q|SCRIB_ENST00000377533.3_Missense_Mutation_p.L853Q	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	934	Interaction with ARHGEF7.|PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			AGCGGTCAGCAGGGAGACGGC	0.662																																					Pancreas(51;966 1133 10533 14576 29674)	uc003yzp.1		NaN																	0				urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1)	5						c.(2800-2802)CTG>CAG		scribble isoform b							28.0	27.0	27.0					8																	144886946		2201	4300	6501	SO:0001583	missense	23513				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding	g.chr8:144886946A>T	AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"""scribbled homolog (Drosophila)"""			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.2801T>A	8.37:g.144886946A>T	ENSP00000322938:p.Leu934Gln					SCRIB_uc003yzn.1_5'Flank|SCRIB_uc003yzo.1_Missense_Mutation_p.L934Q	p.L934Q	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		21	2808	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		934			PDZ 2.|Interaction with ARHGEF7.		Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Missense_Mutation	SNP	ENST00000320476.3	37	c.2801T>A	CCDS6411.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.537176	0.85812	.	.	ENSG00000180900	ENST00000356994;ENST00000320476;ENST00000377533;ENST00000377539	T;T;T	0.48201	0.82;0.82;0.82	4.09	4.09	0.47781	PDZ/DHR/GLGF (4);	.	.	.	.	T	0.68339	0.2990	M	0.81179	2.53	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.73600	-0.3931	9	0.87932	D	0	.	12.3946	0.55378	1.0:0.0:0.0:0.0	.	934;934	Q14160;Q14160-3	SCRIB_HUMAN;.	Q	934;934;853;303	ENSP00000349486:L934Q;ENSP00000322938:L934Q;ENSP00000366756:L853Q	ENSP00000322938:L934Q	L	-	2	0	SCRIB	144958934	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	5.655000	0.67981	1.701000	0.51217	0.368000	0.22195	CTG		0.662	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1		NM_015356		4	22	0	0	0	0.014758	0	4	22		
DOCK8	81704	broad.mit.edu	37	9	336580	336580	+	Splice_Site	SNP	A	A	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr9:336580A>T	ENST00000453981.1	+	12	1397		c.e12-1		DOCK8_ENST00000469391.1_Splice_Site|DOCK8_ENST00000432829.2_Splice_Site			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8						blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TTTTTCTTAAAGGGAGAAGCT	0.423																																						uc003zgf.2		NaN																	0				ovary(3)|central_nervous_system(3)	6						c.e12-2		dedicator of cytokinesis 8							85.0	82.0	83.0					9																	336580		2203	4300	6503	SO:0001630	splice_region_variant	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:336580A>T	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.1286-1A>T	9.37:g.336580A>T						DOCK8_uc011lls.1_Splice_Site_p.G429_splice|DOCK8_uc010mgu.2_Splice_Site|DOCK8_uc010mgv.2_Splice_Site_p.G361_splice|DOCK8_uc003zgg.2_Splice_Site_p.G361_splice|DOCK8_uc003zgh.2_Splice_Site	p.G429_splice	NM_203447	NP_982272	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	12	1398	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)						A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Splice_Site	SNP	ENST00000453981.1	37	c.1286_splice	CCDS6440.2	.	.	.	.	.	.	.	.	.	.	A	18.87	3.714808	0.68730	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391	.	.	.	5.23	5.23	0.72850	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.6943	0.62567	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DOCK8	326580	1.000000	0.71417	0.957000	0.39632	0.856000	0.48823	6.391000	0.73208	1.981000	0.57761	0.533000	0.62120	.		0.423	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5		XM_036307	Intron	13	51	0	0	0	0.013537	0	13	51		
RFX3	5991	broad.mit.edu	37	9	3330299	3330299	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr9:3330299C>T	ENST00000382004.3	-	5	745	c.434G>A	c.(433-435)gGt>gAt	p.G145D	RFX3_ENST00000302303.1_Missense_Mutation_p.G145D|RFX3_ENST00000358730.2_Missense_Mutation_p.G145D	NM_001282116.1|NM_134428.1	NP_001269045.1|NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	145					cell maturation (GO:0048469)|cilium assembly (GO:0042384)|cilium-dependent cell motility (GO:0060285)|endocrine pancreas development (GO:0031018)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell maturation (GO:0072560)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		CACTGAGTGACCAGAATTCTC	0.458																																						uc003zhr.2		NaN																	0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(433-435)GGT>GAT		regulatory factor X3 isoform b							113.0	92.0	99.0					9																	3330299		2203	4300	6503	SO:0001583	missense	5991				cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding	g.chr9:3330299C>T	AI811824	CCDS6449.1, CCDS6450.1, CCDS75809.1	9p24.2	2008-02-05			ENSG00000080298	ENSG00000080298			9984	protein-coding gene	gene with protein product		601337				8289803	Standard	XM_005251534		Approved		uc003zhr.3	P48380	OTTHUMG00000019456	ENST00000382004.3:c.434G>A	9.37:g.3330299C>T	ENSP00000371434:p.Gly145Asp					RFX3_uc010mhd.2_Missense_Mutation_p.G145D|RFX3_uc003zhs.1_Missense_Mutation_p.G145D|RFX3_uc003zht.1_Missense_Mutation_p.G145D|RFX3_uc010mhe.1_Missense_Mutation_p.G145D	p.G145D	NM_134428	NP_602304	P48380	RFX3_HUMAN		GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)	5	746	-			145					A8K0H5|D3DRH8|D3DRH9|Q5JTL7|Q5JTL8|Q6NW13|Q8WTU4|Q95HL5|Q95HL6	Missense_Mutation	SNP	ENST00000382004.3	37	c.434G>A	CCDS6449.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.085707	0.76642	.	.	ENSG00000080298	ENST00000382004;ENST00000381992;ENST00000358730;ENST00000302303;ENST00000457373;ENST00000451859;ENST00000442560;ENST00000420720;ENST00000381985	T;T;T;T;T;T;T	0.64803	0.27;0.25;0.25;-0.12;1.49;1.38;1.36	5.37	5.37	0.77165	.	0.331689	0.34879	N	0.003610	T	0.52092	0.1713	N	0.19112	0.55	0.41095	D	0.985629	P;B;B;P	0.37330	0.59;0.383;0.03;0.57	B;B;B;B	0.40134	0.258;0.32;0.021;0.09	T	0.47995	-0.9073	10	0.21540	T	0.41	-10.9596	19.0861	0.93203	0.0:1.0:0.0:0.0	.	145;145;145;145	B1ANP5;P48380-3;P48380-2;P48380	.;.;.;RFX3_HUMAN	D	145;145;145;145;145;145;106;106;145	ENSP00000371434:G145D;ENSP00000351574:G145D;ENSP00000303847:G145D;ENSP00000405664:G145D;ENSP00000411756:G145D;ENSP00000410988:G106D;ENSP00000416189:G106D	ENSP00000303847:G145D	G	-	2	0	RFX3	3320299	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.268000	0.43338	2.673000	0.90976	0.467000	0.42956	GGT		0.458	RFX3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051545.1		NM_002919		7	63	0	0	0	0.00308	0	7	63		
TBC1D2	55357	broad.mit.edu	37	9	100991351	100991351	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr9:100991351C>G	ENST00000375064.1	-	5	899	c.861G>C	c.(859-861)caG>caC	p.Q287H	TBC1D2_ENST00000493589.2_5'UTR|TBC1D2_ENST00000375066.5_Missense_Mutation_p.Q287H|TBC1D2_ENST00000342112.5_Missense_Mutation_p.Q69H	NM_001267571.1	NP_001254500.1	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	287					positive regulation of Rab GTPase activity (GO:0032851)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)	cadherin binding (GO:0045296)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		AGGTGTTGTTCTGGCGCTTGG	0.532																																						uc011lvb.1		NaN																	0				ovary(3)	3						c.(859-861)CAG>CAC		TBC1 domain family, member 2							156.0	129.0	138.0					9																	100991351		2203	4300	6503	SO:0001583	missense	55357					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity	g.chr9:100991351C>G	AY026527	CCDS35080.1, CCDS59137.1, CCDS75865.1	9q22.32	2011-11-30			ENSG00000095383	ENSG00000095383			18026	protein-coding gene	gene with protein product	"""prostate antigen recognized and identified by SEREX"""	609871					Standard	NM_018421		Approved	PARIS1, TBC1D2A, Armus	uc011lvb.2	Q9BYX2	OTTHUMG00000020343	ENST00000375064.1:c.861G>C	9.37:g.100991351C>G	ENSP00000364205:p.Gln287His					TBC1D2_uc004ayq.2_Missense_Mutation_p.Q287H|TBC1D2_uc004ayr.2_Missense_Mutation_p.Q69H|TBC1D2_uc004ayo.3_Missense_Mutation_p.Q287H	p.Q287H	NM_018421	NP_060891	Q9BYX2	TBD2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)	5	1041	-		Myeloproliferative disorder(762;0.0255)	287					B3KWD1|B4DQ05|B9A6J7|Q59EU0|Q5TBQ5|Q6IPC7|Q7L1K8|Q8WYT1|Q9H6A2|Q9NSH4	Missense_Mutation	SNP	ENST00000375064.1	37	c.861G>C		.	.	.	.	.	.	.	.	.	.	C	10.08	1.252983	0.22965	.	.	ENSG00000095383	ENST00000375064;ENST00000375066;ENST00000342112	T;T;T	0.14144	2.53;3.1;2.53	4.96	1.97	0.26223	.	0.467302	0.22706	N	0.056638	T	0.07324	0.0185	L	0.33485	1.01	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.08055	0.001;0.003	T	0.28650	-1.0037	10	0.09843	T	0.71	.	2.942	0.05834	0.1852:0.535:0.1794:0.1004	.	287;287	Q9BYX2;Q9BYX2-2	TBD2A_HUMAN;.	H	287;287;69	ENSP00000364205:Q287H;ENSP00000364207:Q287H;ENSP00000341567:Q69H	ENSP00000341567:Q69H	Q	-	3	2	TBC1D2	100031172	1.000000	0.71417	0.999000	0.59377	0.965000	0.64279	1.120000	0.31271	0.229000	0.21039	0.655000	0.94253	CAG		0.532	TBC1D2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000053366.1		NM_018421		14	89	0	0	0	0.016723	0	14	89		
GOLGA1	2800	broad.mit.edu	37	9	127642825	127642825	+	Missense_Mutation	SNP	C	C	T	rs146171341	byFrequency	TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr9:127642825C>T	ENST00000373555.4	-	23	2621	c.2288G>A	c.(2287-2289)cGg>cAg	p.R763Q		NM_002077.3	NP_002068	Q92805	GOGA1_HUMAN	golgin A1	763					protein targeting to Golgi (GO:0000042)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						CCATGGTATCCGAGGGTTTGA	0.502													C|||	2	0.000399361	0.0015	0.0	5008	,	,		19421	0.0		0.0	False		,,,				2504	0.0					uc004bpc.2		NaN																	0				ovary(1)	1						c.(2287-2289)CGG>CAG		golgin 97		C	GLN/ARG	4,4402	8.1+/-20.4	0,4,2199	133.0	128.0	129.0		2288	5.3	1.0	9	dbSNP_134	129	1,8599	1.2+/-3.3	0,1,4299	yes	missense	GOLGA1	NM_002077.3	43	0,5,6498	TT,TC,CC		0.0116,0.0908,0.0384	probably-damaging	763/768	127642825	5,13001	2203	4300	6503	SO:0001583	missense	2800					Golgi cisterna membrane		g.chr9:127642825C>T	U51587	CCDS6860.1	9q34.11	2010-02-12	2010-02-12		ENSG00000136935	ENSG00000136935			4424	protein-coding gene	gene with protein product		602502	"""golgi autoantigen, golgin subfamily a, 1"""			9324025	Standard	NM_002077		Approved	golgin-97, MGC33154	uc004bpc.3	Q92805	OTTHUMG00000020665	ENST00000373555.4:c.2288G>A	9.37:g.127642825C>T	ENSP00000362656:p.Arg763Gln					GOLGA1_uc010mws.2_RNA	p.R763Q	NM_002077	NP_002068	Q92805	GOGA1_HUMAN			23	2630	-			763					Q5T164|Q8IYZ9	Missense_Mutation	SNP	ENST00000373555.4	37	c.2288G>A	CCDS6860.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	26.8	4.775561	0.90195	9.08E-4	1.16E-4	ENSG00000136935	ENST00000373555	T	0.24723	1.84	6.17	5.27	0.74061	.	0.000000	0.42420	D	0.000718	T	0.22551	0.0544	N	0.14661	0.345	0.36184	D	0.849592	D	0.64830	0.994	P	0.47102	0.537	T	0.28299	-1.0048	10	0.72032	D	0.01	-21.5363	16.0322	0.80585	0.1352:0.8648:0.0:0.0	.	763	Q92805	GOGA1_HUMAN	Q	763	ENSP00000362656:R763Q	ENSP00000362656:R763Q	R	-	2	0	GOLGA1	126682646	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.355000	0.52262	1.602000	0.50124	0.655000	0.94253	CGG		0.502	GOLGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054049.1		NM_002077		23	169	0	0	0	0.01892	0	23	169		
NUP188	23511	broad.mit.edu	37	9	131760889	131760889	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr9:131760889C>T	ENST00000372577.2	+	32	3523	c.3502C>T	c.(3502-3504)Cgg>Tgg	p.R1168W		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1168					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						TATCCTCCTCCGGCAGTGGAA	0.567																																						uc004bws.1		NaN																	0				ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1)	7						c.(3502-3504)CGG>TGG		nucleoporin 188kDa							108.0	87.0	94.0					9																	131760889		2203	4300	6503	SO:0001583	missense	23511				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr9:131760889C>T	D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"""KIAA0169"""	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.3502C>T	9.37:g.131760889C>T	ENSP00000361658:p.Arg1168Trp					NUP188_uc004bwu.2_Missense_Mutation_p.R511W	p.R1168W	NM_015354	NP_056169	Q5SRE5	NU188_HUMAN			32	3524	+			1168					Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Missense_Mutation	SNP	ENST00000372577.2	37	c.3502C>T	CCDS35156.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.424454	0.83667	.	.	ENSG00000095319	ENST00000356693;ENST00000372577	T	0.33438	1.41	5.37	5.37	0.77165	.	0.102840	0.64402	D	0.000004	T	0.39462	0.1079	L	0.60455	1.87	0.42662	D	0.99348	D;D	0.65815	0.995;0.978	P;P	0.50570	0.639;0.644	T	0.31420	-0.9944	10	0.72032	D	0.01	-4.1087	11.906	0.52713	0.2767:0.7233:0.0:0.0	.	501;1168	E9PET9;Q5SRE5	.;NU188_HUMAN	W	1057;1168	ENSP00000361658:R1168W	ENSP00000349125:R1057W	R	+	1	2	NUP188	130800710	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	3.861000	0.56002	2.534000	0.85438	0.555000	0.69702	CGG		0.567	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2				14	90	0	0	0	0.028581	0	14	90		
EDF1	8721	broad.mit.edu	37	9	139754396	139754396	+	IGR	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr9:139754396C>G	ENST00000224073.1	-	0	640				MAMDC4_ENST00000485732.1_3'UTR|MAMDC4_ENST00000445819.1_Silent_p.L1163L|MAMDC4_ENST00000317446.2_Silent_p.L1084L	NM_003792.2	NP_003783.1	O60869	EDF1_HUMAN	endothelial differentiation-related factor 1						endothelial cell differentiation (GO:0045446)|multicellular organismal development (GO:0007275)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of lipid metabolic process (GO:0019216)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			lung(1)	1	all_cancers(76;0.0841)|all_epithelial(76;0.217)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		TCCTATTGCTCATGCTCCTGG	0.647																																						uc004cjs.2		NaN																	0				breast(4)|upper_aerodigestive_tract(2)|central_nervous_system(1)	7						c.(3250-3252)CTC>CTG		apical early endosomal glycoprotein precursor							66.0	64.0	65.0					9																	139754396		2199	4300	6499	SO:0001628	intergenic_variant	158056				protein transport	integral to membrane		g.chr9:139754396C>G	AJ005259	CCDS7011.1, CCDS7012.1, CCDS65193.1	9q34.3	2009-11-06			ENSG00000107223	ENSG00000107223			3164	protein-coding gene	gene with protein product	"""multiprotein bridging factor-1"""	605107				9813014, 15112053	Standard	NM_003792		Approved	EDF-1	uc004cjt.1	O60869	OTTHUMG00000020948		9.37:g.139754396C>G						MAMDC4_uc011mej.1_Silent_p.L421L	p.L1084L	NM_206920	NP_996803	Q6UXC1	AEGP_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)	26	3302	+	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)	1163			Helical; (Potential).		Q5T5T2|Q9UIM1	Silent	SNP	ENST00000224073.1	37	c.3252C>G	CCDS7011.1	.	.	.	.	.	.	.	.	.	.	.	10.65	1.411021	0.25465	.	.	ENSG00000177943	ENST00000413647	.	.	.	4.38	-1.54	0.08584	.	.	.	.	.	T	0.23410	0.0566	.	.	.	0.19300	N	0.999976	.	.	.	.	.	.	T	0.30446	-0.9978	4	.	.	.	-18.5777	5.0923	0.14715	0.0:0.3916:0.3032:0.3052	.	.	.	.	D	1149	.	.	H	+	1	0	MAMDC4	138874217	0.000000	0.05858	0.029000	0.17559	0.638000	0.38207	-0.893000	0.04127	0.038000	0.15604	0.561000	0.74099	CAT		0.647	EDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055143.1				16	32	0	0	0	0.006122	0	16	32		
TLR7	51284	broad.mit.edu	37	X	12906301	12906301	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chrX:12906301G>C	ENST00000380659.3	+	3	2813	c.2674G>C	c.(2674-2676)Gat>Cat	p.D892H		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	892	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Hydroxychloroquine(DB01611)|Imiquimod(DB00724)	CTGTTGCTATGATGCTTTTAT	0.433																																						uc004cvc.2		NaN																	0				ovary(2)|lung(2)|breast(1)	5						c.(2674-2676)GAT>CAT		toll-like receptor 7 precursor	Imiquimod(DB00724)						153.0	144.0	147.0					X																	12906301		2203	4300	6503	SO:0001583	missense	51284				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity	g.chrX:12906301G>C	AF240467	CCDS14151.1	Xp22.3	2008-02-05			ENSG00000196664	ENSG00000196664			15631	protein-coding gene	gene with protein product		300365				11022119	Standard	NM_016562		Approved		uc004cvc.3	Q9NYK1	OTTHUMG00000021137	ENST00000380659.3:c.2674G>C	X.37:g.12906301G>C	ENSP00000370034:p.Asp892His						p.D892H	NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN			3	2813	+			892			TIR.|Cytoplasmic (Potential).		D1CS69|Q9NR98	Missense_Mutation	SNP	ENST00000380659.3	37	c.2674G>C	CCDS14151.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.711924	0.68730	.	.	ENSG00000196664	ENST00000380659	T	0.04551	3.6	5.75	5.75	0.90469	Toll/interleukin-1 receptor homology (TIR) domain (2);	0.000000	0.85682	D	0.000000	T	0.23846	0.0577	M	0.75777	2.31	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.00248	-1.1880	10	0.87932	D	0	.	18.935	0.92582	0.0:0.0:1.0:0.0	.	892	Q9NYK1	TLR7_HUMAN	H	892	ENSP00000370034:D892H	ENSP00000370034:D892H	D	+	1	0	TLR7	12816222	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.808000	0.99193	2.419000	0.82065	0.600000	0.82982	GAT		0.433	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055769.1		NM_016562		29	187	0	0	0	0.00632	0	29	187		
GLRA2	2742	broad.mit.edu	37	X	14550396	14550396	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chrX:14550396G>C	ENST00000218075.4	+	2	634	c.104G>C	c.(103-105)gGa>gCa	p.G35A	GLRA2_ENST00000355020.4_Missense_Mutation_p.G35A|GLRA2_ENST00000443437.2_5'UTR	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	35					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)|synapse assembly (GO:0007416)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)|Lindane(DB00431)	TCCAGGTCTGGAAAACAACCT	0.413																																						uc010nep.2		NaN																	0				ovary(1)|lung(1)	2						c.(103-105)GGA>GCA		glycine receptor, alpha 2 isoform A	Ethanol(DB00898)|Glycine(DB00145)						141.0	125.0	130.0					X																	14550396		2203	4300	6503	SO:0001583	missense	2742				neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	g.chrX:14550396G>C		CCDS14160.1, CCDS48085.1, CCDS55371.1	Xp22.2	2012-02-07			ENSG00000101958	ENSG00000101958		"""Ligand-gated ion channels / Glycine receptors"""	4327	protein-coding gene	gene with protein product		305990		GLR			Standard	NM_002063		Approved		uc010nep.3	P23416	OTTHUMG00000021166	ENST00000218075.4:c.104G>C	X.37:g.14550396G>C	ENSP00000218075:p.Gly35Ala					GLRA2_uc010neq.2_Missense_Mutation_p.G35A|GLRA2_uc004cwe.3_Missense_Mutation_p.G35A|GLRA2_uc011mio.1_5'UTR|GLRA2_uc011mip.1_Missense_Mutation_p.G13A	p.G35A	NM_001118885	NP_001112357	P23416	GLRA2_HUMAN			3	436	+	Hepatocellular(33;0.128)		35			Extracellular (Probable).		A8K0J6|B2R6I8|B7Z4F5|J3KQ59|Q53YX7|Q6ICQ0|Q99862	Missense_Mutation	SNP	ENST00000218075.4	37	c.104G>C	CCDS14160.1	.	.	.	.	.	.	.	.	.	.	G	5.801	0.332079	0.10956	.	.	ENSG00000101958	ENST00000218075;ENST00000355020;ENST00000415367	T;T;T	0.78126	-1.15;-1.15;0.56	4.87	4.87	0.63330	.	0.140827	0.47852	D	0.000205	T	0.50820	0.1638	N	0.08118	0	0.80722	D	1	B;P;B	0.37122	0.059;0.583;0.0	B;B;B	0.21360	0.034;0.031;0.001	T	0.62267	-0.6890	10	0.02654	T	1	.	16.3031	0.82832	0.0:0.0:1.0:0.0	.	19;35;35	B7Z4E9;P23416;P23416-2	.;GLRA2_HUMAN;.	A	35;35;19	ENSP00000218075:G35A;ENSP00000347123:G35A;ENSP00000391606:G19A	ENSP00000218075:G35A	G	+	2	0	GLRA2	14460317	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.746000	0.62133	2.134000	0.65973	0.594000	0.82650	GGA		0.413	GLRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055829.1				21	78	0	0	0	0.010504	0	21	78		
PHEX	5251	broad.mit.edu	37	X	22094533	22094533	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chrX:22094533G>C	ENST00000379374.4	+	4	942	c.377G>C	c.(376-378)aGg>aCg	p.R126T	PHEX_ENST00000535894.1_Missense_Mutation_p.R29T|PHEX_ENST00000537599.1_Missense_Mutation_p.R126T	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	126					bone mineralization (GO:0030282)|cell-cell signaling (GO:0007267)|cellular protein modification process (GO:0006464)|organophosphate metabolic process (GO:0019637)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						ATCAGTAGAAGGCGGGACACC	0.383																																						uc004dah.2		NaN																	0				ovary(2)|lung(1)	3						c.(376-378)AGG>ACG		phosphate-regulating neutral endopeptidase							94.0	85.0	88.0					X																	22094533		2203	4300	6503	SO:0001583	missense	5251				biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding	g.chrX:22094533G>C	U82970	CCDS14204.1	Xp22.2-p22.1	2008-07-31	2008-07-31		ENSG00000102174	ENSG00000102174			8918	protein-coding gene	gene with protein product		300550	"""phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets)"""	HYP, HPDR		7550339, 9070861	Standard	NM_000444		Approved	PEX, HPDR1, HYP1, XLH	uc004dah.3	P78562	OTTHUMG00000021241	ENST00000379374.4:c.377G>C	X.37:g.22094533G>C	ENSP00000368682:p.Arg126Thr					PHEX_uc011mjr.1_Missense_Mutation_p.R126T|PHEX_uc011mjs.1_Missense_Mutation_p.R29T	p.R126T	NM_000444	NP_000435	P78562	PHEX_HUMAN			4	580	+			126			Extracellular (Potential).		O00678|Q13646|Q2M325|Q93032|Q99827	Missense_Mutation	SNP	ENST00000379374.4	37	c.377G>C	CCDS14204.1	.	.	.	.	.	.	.	.	.	.	G	6.933	0.541837	0.13250	.	.	ENSG00000102174	ENST00000379374;ENST00000537599;ENST00000535894	T;T;T	0.73047	-0.71;-0.71;-0.71	5.35	5.35	0.76521	Peptidase M13 (1);	0.174679	0.64402	D	0.000008	T	0.49012	0.1532	N	0.04203	-0.255	0.80722	D	1	B;B	0.20671	0.038;0.047	B;B	0.17433	0.011;0.018	T	0.49716	-0.8910	10	0.09338	T	0.73	.	18.4626	0.90745	0.0:0.0:1.0:0.0	.	126;126	F5GXU4;P78562	.;PHEX_HUMAN	T	126;126;29	ENSP00000368682:R126T;ENSP00000440362:R126T;ENSP00000439418:R29T	ENSP00000368682:R126T	R	+	2	0	PHEX	22004454	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	3.782000	0.55401	2.388000	0.81334	0.523000	0.50628	AGG		0.383	PHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056035.1		NM_000444		5	35	0	0	0	0.021553	0	5	35		
DGKK	139189	broad.mit.edu	37	X	50117981	50117981	+	RNA	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chrX:50117981C>T	ENST00000376025.2	-	0	3548							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					AGCTTTTCATCCAGGAAAGCT	0.473																																						uc010njr.1		NaN																	0				ovary(1)|kidney(1)	2						c.(3490-3492)GAT>AAT		diacylglycerol kinase kappa							64.0	60.0	61.0					X																	50117981		1893	4106	5999			139189				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chrX:50117981C>T	AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50117981C>T							p.D1164N	NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN			26	3550	-	Ovarian(276;0.236)		1164					B2RP91	Missense_Mutation	SNP	ENST00000376025.2	37	c.3490G>A																																																																																					0.473	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1		NM_001013742		5	26	0	0	0	0.014758	0	5	26		
FGD1	2245	broad.mit.edu	37	X	54496484	54496484	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chrX:54496484G>A	ENST00000375135.3	-	4	1799	c.1066C>T	c.(1066-1068)Cca>Tca	p.P356S		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	356					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						AGGGGCACTGGGATTTCTCTG	0.597																																						uc004dtg.2		NaN																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(1066-1068)CCA>TCA		faciogenital dysplasia protein							47.0	44.0	45.0					X																	54496484		2203	4300	6503	SO:0001583	missense	2245				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chrX:54496484G>A	U11690	CCDS14359.1	Xp11.21	2013-01-10	2008-08-01		ENSG00000102302	ENSG00000102302		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	3663	protein-coding gene	gene with protein product		300546	"""faciogenital dysplasia (Aarskog-Scott syndrome)"""	FGDY			Standard	NM_004463		Approved	ZFYVE3	uc004dtg.3	P98174	OTTHUMG00000021627	ENST00000375135.3:c.1066C>T	X.37:g.54496484G>A	ENSP00000364277:p.Pro356Ser					FGD1_uc011moi.1_Missense_Mutation_p.P114S	p.P356S	NM_004463	NP_004454	P98174	FGD1_HUMAN			4	1800	-			356					Q5H999|Q8N4D9	Missense_Mutation	SNP	ENST00000375135.3	37	c.1066C>T	CCDS14359.1	.	.	.	.	.	.	.	.	.	.	G	14.56	2.571792	0.45798	.	.	ENSG00000102302	ENST00000375135	T	0.80480	-1.38	5.88	1.9	0.25705	Dbl homology (DH) domain (2);	0.248460	0.28989	N	0.013481	T	0.65165	0.2665	L	0.29908	0.895	0.30132	N	0.804758	B;B	0.06786	0.0;0.001	B;B	0.06405	0.001;0.002	T	0.54536	-0.8279	10	0.31617	T	0.26	-13.3661	5.9125	0.19037	0.1703:0.2908:0.5388:0.0	.	114;356	B4DS99;P98174	.;FGD1_HUMAN	S	356	ENSP00000364277:P356S	ENSP00000364277:P356S	P	-	1	0	FGD1	54513209	1.000000	0.71417	0.997000	0.53966	0.841000	0.47740	0.458000	0.21892	0.233000	0.21120	0.529000	0.55759	CCA		0.597	FGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056801.1		NM_004463		9	33	0	0	0	0.004482	0	9	33		
TRPC5	7224	broad.mit.edu	37	X	111019559	111019559	+	Silent	SNP	T	T	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chrX:111019559T>C	ENST00000262839.2	-	11	3822	c.2904A>G	c.(2902-2904)caA>caG	p.Q968Q		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	968					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GAGTTGTAACTTGTTCTTCCT	0.423																																						uc004epl.1		NaN																	0				urinary_tract(1)	1						c.(2902-2904)CAA>CAG		transient receptor potential cation channel,							84.0	71.0	76.0					X																	111019559		2203	4300	6503	SO:0001819	synonymous_variant	7224				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chrX:111019559T>C	AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12337	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 159"""	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.2904A>G	X.37:g.111019559T>C							p.Q968Q	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN			11	3823	-			968			Cytoplasmic (Potential).		B2RP53|O75233|Q5JXY8|Q9Y514	Silent	SNP	ENST00000262839.2	37	c.2904A>G	CCDS14561.1																																																																																				0.423	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057945.1		NM_012471		5	62	0	0	0	0.014758	0	5	62		
DOCK11	139818	broad.mit.edu	37	X	117814457	117814457	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chrX:117814457G>A	ENST00000276202.7	+	49	5536	c.5473G>A	c.(5473-5475)Gag>Aag	p.E1825K	DOCK11_ENST00000276204.6_Missense_Mutation_p.E1825K	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1825	DHR-2.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						AAATGCCAAAGAGCTTGATCC	0.289																																						uc004eqp.2		NaN																	0				ovary(3)	3						c.(5473-5475)GAG>AAG		dedicator of cytokinesis 11							51.0	52.0	52.0					X																	117814457		2203	4300	6503	SO:0001583	missense	139818				blood coagulation	cytosol	GTP binding	g.chrX:117814457G>A	AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.5473G>A	X.37:g.117814457G>A	ENSP00000276202:p.Glu1825Lys					DOCK11_uc004eqq.2_Missense_Mutation_p.E1604K	p.E1825K	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN			49	5536	+			1825			DHR-2.		A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	ENST00000276202.7	37	c.5473G>A	CCDS35373.1	.	.	.	.	.	.	.	.	.	.	G	17.47	3.397902	0.62177	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.15718	2.4;2.4	5.55	5.55	0.83447	.	0.257235	0.43110	N	0.000606	T	0.10294	0.0252	N	0.11673	0.155	0.51012	D	0.9999	B;B	0.18741	0.03;0.03	B;B	0.26094	0.066;0.066	T	0.07986	-1.0744	10	0.05721	T	0.95	-10.0551	17.4448	0.87575	0.0:0.0:1.0:0.0	.	1825;1825	A6NIW2;Q5JSL3	.;DOC11_HUMAN	K	1825	ENSP00000276204:E1825K;ENSP00000276202:E1825K	ENSP00000276202:E1825K	E	+	1	0	DOCK11	117698485	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.259000	0.65485	2.334000	0.79466	0.600000	0.82982	GAG		0.289	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1		NM_144658		13	66	0	0	0	0.016723	0	13	66		
CDR1	1038	broad.mit.edu	37	X	139866027	139866027	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chrX:139866027G>C	ENST00000370532.2	-	1	696	c.505C>G	c.(505-507)Cgt>Ggt	p.R169G		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	169	6 X 6 AA approximate repeats.							p.R169C(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				GAAAATCCACGTCTTCCCAAC	0.423																																						uc004fbg.1		NaN																	1	Substitution - Missense(1)		prostate(1)		0						c.(505-507)CGT>GGT		cerebellar degeneration-related protein 1,							145.0	149.0	148.0					X																	139866027		2203	4300	6503	SO:0001583	missense	1038							g.chrX:139866027G>C		CCDS14670.1	Xq27.1	2013-06-13	2002-08-29		ENSG00000184258	ENSG00000184258			1798	protein-coding gene	gene with protein product	"""Cerebellar degeneration-related protein-1 (34kD)"""	302650	"""cerebellar degeneration-related protein (34kD)"""	CDR		2326268	Standard	NM_004065		Approved	CDR62A, CDR34	uc004fbg.1	P51861	OTTHUMG00000137398	ENST00000370532.2:c.505C>G	X.37:g.139866027G>C	ENSP00000359563:p.Arg169Gly					uc004fbf.1_RNA	p.R169G	NM_004065	NP_004056	P51861	CDR1_HUMAN			1	697	-	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)	169			5.|6 X 6 AA approximate repeats.		Q5JXH6	Missense_Mutation	SNP	ENST00000370532.2	37	c.505C>G	CCDS14670.1	.	.	.	.	.	.	.	.	.	.	G	14.20	2.463480	0.43736	.	.	ENSG00000184258	ENST00000370532	.	.	.	4.07	1.25	0.21368	.	.	.	.	.	T	0.14184	0.0343	N	0.08118	0	0.09310	N	1	P	0.47253	0.892	B	0.41174	0.349	T	0.11966	-1.0566	7	.	.	.	.	6.8292	0.23900	0.3522:0.0:0.6478:0.0	.	169	P51861	CDR1_HUMAN	G	169	.	.	R	-	1	0	CDR1	139693693	0.003000	0.15002	0.069000	0.20011	0.236000	0.25371	-0.134000	0.10436	0.303000	0.22785	0.292000	0.19580	CGT		0.423	CDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058583.1		NM_004065		63	266	0	0	0	0.01441	0	63	266		
MAGEA8	4107	broad.mit.edu	37	X	149013352	149013352	+	Silent	SNP	T	T	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chrX:149013352T>C	ENST00000542674.1	+	3	827	c.306T>C	c.(304-306)gcT>gcC	p.A102A	MAGEA8_ENST00000535454.1_Silent_p.A102A|MAGEA8_ENST00000286482.1_Silent_p.A102A	NM_001166401.1	NP_001159873.1	P43361	MAGA8_HUMAN	melanoma antigen family A, 8	102										NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					CGGACCCAGCTCACCTGGAGT	0.557																																						uc004fdw.1		NaN																	0					0						c.(304-306)GCT>GCC		melanoma antigen family A, 8							84.0	84.0	84.0					X																	149013352		2203	4298	6501	SO:0001819	synonymous_variant	4107							g.chrX:149013352T>C		CCDS14692.1	Xq28	2009-03-13			ENSG00000156009	ENSG00000156009			6806	protein-coding gene	gene with protein product	"""MAGE-8 antigen"", ""cancer/testis antigen family 1, member 8"""	300341		MAGE8		8575766	Standard	NM_005364		Approved	MGC2182, CT1.8	uc004fdw.2	P43361	OTTHUMG00000022635	ENST00000542674.1:c.306T>C	X.37:g.149013352T>C							p.A102A	NM_005364	NP_005355	P43361	MAGA8_HUMAN			3	521	+	Acute lymphoblastic leukemia(192;6.56e-05)		102					Q9BUN9	Silent	SNP	ENST00000542674.1	37	c.306T>C	CCDS14692.1																																																																																				0.557	MAGEA8-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058728.1		NM_005364		30	145	0	0	0	0.007291	0	30	145		
KLF5	688	broad.mit.edu	37	13	73636680	73636683	+	Frame_Shift_Del	DEL	CAAG	CAAG	-			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08			CAAG	-	CAAG	CAAG		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr13:73636680_73636683delCAAG	ENST00000377687.4	+	2	1479_1482	c.943_946delCAAG	c.(943-948)caagcafs	p.QA315fs	KLF5_ENST00000539231.1_Frame_Shift_Del_p.QA224fs|KLF5_ENST00000477333.1_3'UTR	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)	315					angiogenesis (GO:0001525)|cellular response to organic cyclic compound (GO:0071407)|cellular response to peptide (GO:1901653)|intestinal epithelial cell development (GO:0060576)|microvillus assembly (GO:0030033)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of microvillus assembly (GO:0032534)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		TCCAGATAGACAAGCAGAGATGCT	0.495																																						uc001vje.2		NaN																	0				large_intestine(1)|ovary(1)|pancreas(1)	3						c.(943-948)CAAGCAfs		Kruppel-like factor 5																																				SO:0001589	frameshift_variant	688				transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr13:73636680_73636683delCAAG	D14520	CCDS9448.1, CCDS66562.1	13q21.3	2013-01-08			ENSG00000102554	ENSG00000102554		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6349	protein-coding gene	gene with protein product		602903		BTEB2		8479902, 9973612	Standard	NM_001730		Approved	IKLF, CKLF	uc001vje.3	Q13887	OTTHUMG00000017074	ENST00000377687.4:c.943_946delCAAG	13.37:g.73636680_73636683delCAAG	ENSP00000366915:p.Gln315fs					KLF5_uc001vjd.2_Frame_Shift_Del_p.Q224fs	p.Q315fs	NM_001730	NP_001721	Q13887	KLF5_HUMAN		GBM - Glioblastoma multiforme(99;0.0011)	2	1267_1270	+		Prostate(6;0.00187)|Breast(118;0.0735)	315_316					L0R3U5|L0R4T9|Q9UHP8	Frame_Shift_Del	DEL	ENST00000377687.4	37	c.943_946delCAAG	CCDS9448.1																																																																																				0.495	KLF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045263.1				19	142	NaN	NaN	NaN	NaN	NaN	19	142	---	---
OR4M1	441670	broad.mit.edu	37	14	20248931	20248931	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr14:20248931delG	ENST00000315957.4	+	1	531	c.450delG	c.(448-450)atgfs	p.M150fs		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	150						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCTCCTGGATGGGGGGCTTCA	0.502																																						uc010tku.1		NaN																	0					0						c.(448-450)ATGfs		olfactory receptor, family 4, subfamily M,							246.0	258.0	254.0					14																	20248931		2203	4300	6503	SO:0001589	frameshift_variant	441670				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20248931delG		CCDS32021.1	14q11.2	2013-09-23			ENSG00000176299	ENSG00000176299		"""GPCR / Class A : Olfactory receptors"""	14735	protein-coding gene	gene with protein product							Standard	NM_001005500		Approved		uc010tku.2	Q8NGD0	OTTHUMG00000170599	ENST00000315957.4:c.450delG	14.37:g.20248931delG	ENSP00000319654:p.Met150fs						p.M150fs	NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	450	+	all_cancers(95;0.00108)		150			Helical; Name=4; (Potential).		B9EH18|Q6IFA3	Frame_Shift_Del	DEL	ENST00000315957.4	37	c.450delG	CCDS32021.1																																																																																				0.502	OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409770.1				7	582	NaN	NaN	NaN	NaN	NaN	7	582	---	---
ZFP36L1	677	broad.mit.edu	37	14	69256630	69256631	+	Frame_Shift_Ins	INS	-	-	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08			-	G	-	-		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr14:69256630_69256631insG	ENST00000439696.2	-	2	937_938	c.636_637insC	c.(634-639)gccaccfs	p.T213fs	ZFP36L1_ENST00000336440.3_Frame_Shift_Ins_p.T213fs|ZFP36L1_ENST00000555997.1_3'UTR	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	213					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|T cell differentiation in thymus (GO:0033077)|vasculogenesis (GO:0001570)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		gcagcggcggtggcagcggcAC	0.693											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001xkh.1		NaN																	0				ovary(1)	1						c.(634-639)GCCACCfs		butyrate response factor 1																																				SO:0001589	frameshift_variant	677				regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:69256630_69256631insG	X79066	CCDS9791.1	14q22-q24	2012-11-27	2012-11-27	2001-11-23		ENSG00000185650		"""RING-type (C3HC4) zinc fingers"""	1107	protein-coding gene	gene with protein product		601064	"""zinc finger protein, C3H type, 36-like 1"", ""zinc finger protein 36, C3H type-like 1"""	BRF1		8024689	Standard	NM_004926		Approved	RNF162B, Berg36, ERF1, TIS11B, cMG1	uc021rve.1	Q07352		ENST00000439696.2:c.637dupC	14.37:g.69256632_69256632dupG	ENSP00000388402:p.Thr213fs		OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1113	ZFP36L1_uc001xki.1_Frame_Shift_Ins_p.A212fs	p.A212fs	NM_004926	NP_004917	Q07352	TISB_HUMAN		all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)	2	766_767	-			212_213					Q13851	Frame_Shift_Ins	INS	ENST00000439696.2	37	c.636_637insC	CCDS9791.1																																																																																				0.693	ZFP36L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413227.1				30	140	NaN	NaN	NaN	NaN	NaN	30	140	---	---
FBN1	2200	broad.mit.edu	37	15	48826273	48826286	+	Splice_Site	DEL	TTACCTTCACATTT	TTACCTTCACATTT	-			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr15:48826273_48826286delTTACCTTCACATTT	ENST00000316623.5	-	8	1308_1318	c.853_863delAAATGTGAAGGTAA	c.(853-864)aaatgtgaaggt>t	p.KCEG285fs		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	285	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		ATAAGATTTCTTACCTTCACATTTTTGTGACACT	0.435																																						uc001zwx.1		NaN																	0				ovary(2)|large_intestine(1)	3						c.e8+1		fibrillin 1 precursor																																				SO:0001630	splice_region_variant	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48826273_48826286delTTACCTTCACATTT	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.862+1AAATGTGAAGGTAA>-	15.37:g.48826273_48826286delTTACCTTCACATTT							p.D288_splice	NM_000138	NP_000129	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	8	1190	-		all_lung(180;0.00279)						B2RUU0|D2JYH6|Q15972|Q75N87	Splice_Site	DEL	ENST00000316623.5	37	c.862_splice	CCDS32232.1																																																																																				0.435	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			Frame_Shift_Del	11	586	NaN	NaN	NaN	NaN	NaN	11	586	---	---
HCFC1R1	54985	broad.mit.edu	37	16	3073515	3073517	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr16:3073515_3073517delCTC	ENST00000248089.3	-	2	414_416	c.110_112delGAG	c.(109-114)ggagct>gct	p.G37del	HCFC1R1_ENST00000574980.1_In_Frame_Del_p.G37del|HCFC1R1_ENST00000396916.1_In_Frame_Del_p.G37del|THOC6_ENST00000253952.9_5'Flank|HCFC1R1_ENST00000354679.3_Intron|THOC6_ENST00000326266.8_5'Flank|HCFC1R1_ENST00000574151.1_Intron|THOC6_ENST00000574549.1_5'Flank|HCFC1R1_ENST00000572355.1_5'UTR|THOC6_ENST00000575576.1_5'Flank	NM_017885.2	NP_060355.1	Q9NWW0	HPIP_HUMAN	host cell factor C1 regulator 1 (XPO1 dependent)	37						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|large_intestine(1)|upper_aerodigestive_tract(1)	3						ATGGGCACAGCTCCTCGGAGAGG	0.626																																						uc002csx.1		NaN																	0					0						c.(109-114)GGAGCT>GCT		host cell factor C1 regulator 1 (XPO1 dependant)																																				SO:0001651	inframe_deletion	54985					cytoplasm|nucleus		g.chr16:3073515_3073517delCTC	AK000575	CCDS10490.1, CCDS32375.1, CCDS73815.1	16p13.3	2008-02-05	2005-12-01			ENSG00000103145			21198	protein-coding gene	gene with protein product			"""host cell factor C1 regulator 1 (XPO1 dependant)"""			12235138	Standard	NM_001002018		Approved	HPIP, FLJ20568	uc002csy.1	Q9NWW0		ENST00000248089.3:c.110_112delGAG	16.37:g.3073518_3073520delCTC	ENSP00000248089:p.Gly37del					HCFC1R1_uc002csy.1_In_Frame_Del_p.G37del|HCFC1R1_uc002csz.1_Intron|THOC6_uc002ctb.2_5'Flank|THOC6_uc002ctd.2_5'Flank|THOC6_uc002ctc.2_5'Flank|THOC6_uc002cta.2_5'Flank	p.G37del	NM_001002018	NP_001002018	Q9NWW0	HPIP_HUMAN			3	243_245	-			37					D3DUA7|Q68EN7	In_Frame_Del	DEL	ENST00000248089.3	37	c.110_112delGAG	CCDS10490.1																																																																																				0.626	HCFC1R1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000436969.1		NM_017885		9	43	NaN	NaN	NaN	NaN	NaN	9	43	---	---
PCDHGB4	8641	broad.mit.edu	37	5	140767492	140767497	+	In_Frame_Del	DEL	TGCCAG	TGCCAG	-	rs145222727|rs370380135	byFrequency	TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr5:140767492_140767497delTGCCAG	ENST00000519479.1	+	1	41_46	c.41_46delTGCCAG	c.(40-48)ctgccagtg>ctg	p.PV15del	PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	15					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P15_V16delPV(1)		endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGAGAGGCTGCCAGTGCTCTTTCT	0.617											OREG0016859	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		166	0.033147	0.0045	0.0476	5008	,	,		16199	0.0		0.0944	False		,,,				2504	0.0327					uc003lkc.1		NaN																	1	Deletion - In frame(1)		prostate(1)		0						c.(40-48)CTGCCAGTG>CTG		protocadherin gamma subfamily B, 4 isoform 1			,,,,,,,,,,,	50,3074		6,38,1518					,,,,,,,,,,,	3.7	0.9		dbSNP_134	6	518,6570		64,390,3090	no	coding,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,coding	PCDHGB4,PCDHGB3,PCDHGB2,PCDHGB1,PCDHGA7,PCDHGA6,PCDHGA5,PCDHGA4,PCDHGA3,PCDHGA2,PCDHGA1	NM_032098.1,NM_018924.2,NM_018923.2,NM_018922.2,NM_018920.2,NM_018919.2,NM_018918.2,NM_018917.2,NM_018916.3,NM_018915.2,NM_018912.2,NM_003736.2	,,,,,,,,,,,	70,428,4608	A1A1,A1R,RR		7.3081,1.6005,5.5621	,,,,,,,,,,,	,,,,,,,,,,,		568,9644				SO:0001651	inframe_deletion	8641				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140767492_140767497delTGCCAG	AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"""Cadherins / Protocadherins : Clustered"""	8711	other	protocadherin	"""fibroblast cadherin FIB2"", ""cadherin 20"""	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.41_46delTGCCAG	5.37:g.140767492_140767497delTGCCAG	ENSP00000428288:p.Pro15_Val16del		OREG0016859	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1658	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc011dav.1_In_Frame_Del_p.PV15del	p.PV15del	NM_003736	NP_003727	Q9UN71	PCDGG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	41_46	+			15_16					O15099|Q2M267|Q9UN64	In_Frame_Del	DEL	ENST00000519479.1	37	c.41_46delTGCCAG	CCDS54928.1																																																																																				0.617	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374745.1		NM_003736		5	3	NaN	NaN	NaN	NaN	NaN	5	3	---	---
