#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
PPP1R9A	55607	broad.mit.edu	37	7	94915636	94915636	+	Splice_Site	SNP	A	A	G			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr7:94915636A>G	ENST00000433881.1	+	13	3408	c.2876A>G	c.(2875-2877)gAg>gGg	p.E959G	PPP1R9A_ENST00000424654.1_Splice_Site_p.E1183G|PPP1R9A_ENST00000433360.1_Splice_Site_p.E1243G|PPP1R9A_ENST00000456331.2_Splice_Site_p.E1183G|PPP1R9A_ENST00000289495.5_Splice_Site_p.E1165G|PPP1R9A_ENST00000340694.4_Splice_Site_p.E959G			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	959	Interacts with TGN38. {ECO:0000250}.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			TCATCAGATGAGGTAATTCCA	0.463										HNSCC(28;0.073)																												ENST00000289495.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71						c.e16+1		protein phosphatase 1, regulatory subunit 9A							78.0	66.0	70.0					7																	94915636		2203	4300	6503	SO:0001630	splice_region_variant	55607					cell junction|synapse|synaptosome	actin binding	g.chr7:94915636A>G	AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Sterile alpha motif (SAM) domain containing"""	14946	protein-coding gene	gene with protein product		602468	"""protein phosphatase 1, regulatory (inhibitor) subunit 9A"""			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.2877+1A>G	7.37:g.94915636A>G		HNSCC(28;0.073)				PPP1R9A_ENST00000456331.2_Splice_Site_p.E1183_splice|PPP1R9A_ENST00000424654.1_Splice_Site_p.E1183_splice|PPP1R9A_ENST00000340694.4_Splice_Site_p.E959_splice|PPP1R9A_ENST00000433360.1_Splice_Site_p.E1243_splice|PPP1R9A_ENST00000433881.1_Splice_Site_p.E959_splice	p.E1165_splice	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		16	3710	+	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		959					A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Splice_Site	SNP	ENST00000433881.1	37	c.3495_splice	CCDS34683.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.030954	0.75504	.	.	ENSG00000158528	ENST00000433360;ENST00000340694;ENST00000424654;ENST00000433881;ENST00000289495;ENST00000456331	T;T;T;T;T;T	0.19669	2.16;2.27;2.24;2.27;2.13;2.24	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.40398	0.1115	L	0.46157	1.445	0.40458	D	0.980219	P;D;D;D;D;D	0.89917	0.611;0.983;0.999;1.0;1.0;1.0	B;P;D;D;D;D	0.85130	0.205;0.854;0.973;0.997;0.996;0.996	T	0.26573	-1.0099	10	0.66056	D	0.02	.	15.3775	0.74621	1.0:0.0:0.0:0.0	.	959;1165;1243;1183;1183;959	B7ZLX4;F8W7J9;E9PDX1;D6W5R0;E9PCK6;Q9ULJ8	.;.;.;.;.;NEB1_HUMAN	G	1243;959;1183;959;1165;1183	ENSP00000405514:E1243G;ENSP00000344524:E959G;ENSP00000411342:E1183G;ENSP00000398870:E959G;ENSP00000289495:E1165G;ENSP00000402893:E1183G	ENSP00000289495:E1165G	E	+	2	0	PPP1R9A	94753572	1.000000	0.71417	1.000000	0.80357	0.483000	0.33249	8.086000	0.89520	2.280000	0.76307	0.533000	0.62120	GAG		0.463	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340662.1	NM_001166160	Missense_Mutation	10	46	0	0	0	1	0	10	46				
PKD2L2	27039	broad.mit.edu	37	5	137271550	137271550	+	Missense_Mutation	SNP	T	T	A	rs576577324		TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr5:137271550T>A	ENST00000508883.1	+	13	1762	c.1736T>A	c.(1735-1737)aTg>aAg	p.M579K	PKD2L2_ENST00000508638.1_Missense_Mutation_p.M478K|PKD2L2_ENST00000350250.4_Missense_Mutation_p.M545K|PKD2L2_ENST00000290431.5_Missense_Mutation_p.M579K|PKD2L2_ENST00000502810.1_Missense_Mutation_p.M557K			Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	579					calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)	integral component of membrane (GO:0016021)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TATTATTCTATGGAAATTCAA	0.388																																						ENST00000508638.1																			0				breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28						c.(1432-1434)aTg>aAg		polycystic kidney disease 2-like 2							89.0	87.0	87.0					5																	137271550		1827	4087	5914	SO:0001583	missense	27039					integral to membrane	calcium ion binding|ion channel activity	g.chr5:137271550T>A	AF118125	CCDS43367.1, CCDS58971.1, CCDS58972.1	5q31	2011-12-16			ENSG00000078795	ENSG00000078795		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9012	protein-coding gene	gene with protein product		604669				10602361	Standard	NM_014386		Approved	TRPP5	uc003lbw.1	Q9NZM6	OTTHUMG00000163306	ENST00000508883.1:c.1736T>A	5.37:g.137271550T>A	ENSP00000424725:p.Met579Lys					PKD2L2_ENST00000290431.5_Missense_Mutation_p.M579K|PKD2L2_ENST00000508883.1_Missense_Mutation_p.M579K|PKD2L2_ENST00000502810.1_Missense_Mutation_p.M557K|PKD2L2_ENST00000350250.4_Missense_Mutation_p.M545K	p.M478K	NM_001258449.1	NP_001245378.1	Q9NZM6	PK2L2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		11	1488	+			579					A6NK98|B4DXD2|E9PC91|E9PDG4|Q86YB4|Q9UNJ0	Missense_Mutation	SNP	ENST00000508883.1	37	c.1433T>A		.	.	.	.	.	.	.	.	.	.	T	0.014	-1.596365	0.00857	.	.	ENSG00000078795	ENST00000350250;ENST00000508638;ENST00000502810;ENST00000508883;ENST00000290431	T;T;T;T;T	0.70164	-0.13;0.47;-0.46;-0.05;-0.09	5.63	1.76	0.24704	.	1.441360	0.03965	N	0.290649	T	0.46698	0.1406	N	0.08118	0	0.09310	N	1	B;B;B	0.10296	0.0;0.003;0.002	B;B;B	0.11329	0.001;0.002;0.006	T	0.32134	-0.9918	10	0.37606	T	0.19	-0.0411	5.5753	0.17220	0.2779:0.5733:0.0:0.1488	.	579;478;579	Q9NZM6;E9PC91;Q9NZM6-5	PK2L2_HUMAN;.;.	K	545;478;557;579;579	ENSP00000344177:M545K;ENSP00000423382:M478K;ENSP00000425513:M557K;ENSP00000424725:M579K;ENSP00000290431:M579K	ENSP00000290431:M579K	M	+	2	0	PKD2L2	137299449	0.405000	0.25336	0.012000	0.15200	0.009000	0.06853	0.941000	0.29005	0.110000	0.17919	-0.799000	0.03217	ATG		0.388	PKD2L2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000372521.1	NM_014386		13	77	0	0	0	1	0	13	77				
QARS	5859	broad.mit.edu	37	3	49138814	49138814	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr3:49138814T>C	ENST00000306125.6	-	10	1187	c.850A>G	c.(850-852)Atc>Gtc	p.I284V	QARS_ENST00000414533.1_Missense_Mutation_p.I273V|QARS_ENST00000470225.1_5'UTR|QARS_ENST00000420147.2_Missense_Mutation_p.H273R			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	284					brain development (GO:0007420)|gene expression (GO:0010467)|glutaminyl-tRNA aminoacylation (GO:0006425)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|glutamine-tRNA ligase activity (GO:0004819)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	TTGAAATTGATGGCTTTGGCA	0.478																																						ENST00000306125.6																			0				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19						c.(850-852)Atc>Gtc		glutaminyl-tRNA synthetase	L-Glutamine(DB00130)						140.0	125.0	130.0					3																	49138814		2203	4300	6503	SO:0001583	missense	5859				glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding	g.chr3:49138814T>C	X76013	CCDS2788.1, CCDS63633.1	3p21.31	2011-07-01			ENSG00000172053	ENSG00000172053	6.1.1.18	"""Aminoacyl tRNA synthetases / Class I"""	9751	protein-coding gene	gene with protein product	"""glutamine tRNA ligase"""	603727				8078941, 10393422	Standard	NM_005051		Approved		uc003cvx.4	P47897	OTTHUMG00000156774	ENST00000306125.6:c.850A>G	3.37:g.49138814T>C	ENSP00000307567:p.Ile284Val					QARS_ENST00000470225.1_5'UTR|QARS_ENST00000414533.1_Missense_Mutation_p.I273V|QARS_ENST00000420147.2_Missense_Mutation_p.H273R	p.I284V			P47897	SYQ_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	10	1187	-			284					B4DWJ2	Missense_Mutation	SNP	ENST00000306125.6	37	c.850A>G	CCDS2788.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.0|21.0	4.084635|4.084635	0.76642|0.76642	.|.	.|.	ENSG00000172053|ENSG00000172053	ENST00000420147|ENST00000306125;ENST00000414533	.|T;T	.|0.22743	.|1.94;1.94	5.73|5.73	5.73|5.73	0.89815|0.89815	.|Glutamyl/glutaminyl-tRNA synthetase, class Ib, catalytic domain (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.56140|0.56140	0.1965|0.1965	M|M	0.91090|0.91090	3.175|3.175	0.37114|0.37114	D|D	0.900474|0.900474	B|D;D	0.27559|0.71674	0.181|0.998;0.998	B|D;D	0.26864|0.87578	0.074|0.998;0.998	T|T	0.71632|0.71632	-0.4534|-0.4534	8|10	0.87932|0.87932	D|D	0|0	-24.5027|-24.5027	15.6774|15.6774	0.77338|0.77338	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	273|273;284	B7Z840|B4DWJ2;P47897	.|.;SYQ_HUMAN	R|V	273|284;273	.|ENSP00000307567:I284V;ENSP00000390015:I273V	ENSP00000399119:H273R|ENSP00000307567:I284V	H|I	-|-	2|1	0|0	QARS|QARS	49113818|49113818	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.485000|7.485000	0.81204|0.81204	2.186000|2.186000	0.69663|0.69663	0.533000|0.533000	0.62120|0.62120	CAT|ATC		0.478	QARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345689.2	NM_005051		17	34	0	0	0	1	0	17	34				
CHD4	1108	broad.mit.edu	37	12	6687075	6687075	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr12:6687075T>C	ENST00000357008.2	-	37	5400	c.5237A>G	c.(5236-5238)tAt>tGt	p.Y1746C	CHD4_ENST00000309577.6_Missense_Mutation_p.Y1774C|RP5-940J5.6_ENST00000501075.2_RNA|CHD4_ENST00000544040.1_Missense_Mutation_p.Y1739C|CHD4_ENST00000544484.1_Missense_Mutation_p.Y1771C	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1746	Required for interaction with PCNT.				ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						CCACCGGGCATAGCCATGGCT	0.438																																					Colon(32;586 792 4568 16848 45314)	ENST00000309577.6																			0				central_nervous_system(2)	2						c.(5320-5322)tAt>tGt		chromodomain helicase DNA binding protein 4							86.0	88.0	88.0					12																	6687075		2203	4300	6503	SO:0001583	missense	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6687075T>C	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.5237A>G	12.37:g.6687075T>C	ENSP00000349508:p.Tyr1746Cys					CHD4_ENST00000357008.2_Missense_Mutation_p.Y1746C|CHD4_ENST00000544040.1_Missense_Mutation_p.Y1739C|CHD4_ENST00000544484.1_Missense_Mutation_p.Y1771C	p.Y1774C			Q14839	CHD4_HUMAN			36	5484	-			1746			Required for interaction with PCNT.		Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	c.5321A>G	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.404870	0.83230	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.96940	-4.18;-4.09;-4.17;-4.11	5.38	5.38	0.77491	CHD, C-terminal 2 (1);	0.000000	0.85682	D	0.000000	D	0.98166	0.9394	M	0.85299	2.745	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.998;0.997	D	0.99282	1.0896	10	0.87932	D	0	-4.6317	15.6903	0.77446	0.0:0.0:0.0:1.0	.	1774;1746;1739	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	C	1771;1739;1774;1746;1720	ENSP00000440392:Y1771C;ENSP00000440542:Y1739C;ENSP00000312419:Y1774C;ENSP00000349508:Y1746C	ENSP00000312419:Y1774C	Y	-	2	0	CHD4	6557336	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.997000	0.88414	2.163000	0.67991	0.460000	0.39030	TAT		0.438	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		22	78	0	0	0	1	0	22	78				
CYFIP1	23191	broad.mit.edu	37	15	22999449	22999449	+	Silent	SNP	C	C	G			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr15:22999449C>G	ENST00000313077.7	+	29	3446	c.3321C>G	c.(3319-3321)ccC>ccG	p.P1107P	CYFIP1_ENST00000560848.1_Silent_p.P1107P|CYFIP1_ENST00000435939.2_Silent_p.P676P	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		TGGATGACCCCATCTGGCGCG	0.582																																						ENST00000313077.7																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						c.(3319-3321)ccC>ccG		cytoplasmic FMR1 interacting protein 1							60.0	60.0	60.0					15																	22999449		2203	4300	6503	SO:0001819	synonymous_variant	23191				axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding	g.chr15:22999449C>G	D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"""selective hybridizing clone"", ""cytoplasmic FMRP interacting protein 1"""	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.3321C>G	15.37:g.22999449C>G						CYFIP1_ENST00000435939.2_Silent_p.P676P|CYFIP1_ENST00000560848.1_Silent_p.P1107P	p.P1107P	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)	29	3446	+		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	1107						Silent	SNP	ENST00000313077.7	37	c.3321C>G	CCDS10009.1																																																																																				0.582	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251136.2	NM_014608		13	41	0	0	0	1	0	13	41				
MYLK	4638	broad.mit.edu	37	3	123383035	123383035	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr3:123383035C>T	ENST00000475616.1	-	20	3901	c.3902G>A	c.(3901-3903)cGc>cAc	p.R1301H	MYLK_ENST00000346322.5_Missense_Mutation_p.R1232H|MYLK_ENST00000354792.5_Missense_Mutation_p.R101H|MYLK_ENST00000360772.3_Missense_Mutation_p.R1301H|MYLK_ENST00000359169.1_Missense_Mutation_p.R1301H|MYLK_ENST00000510775.1_5'Flank|MYLK_ENST00000360304.3_Missense_Mutation_p.R1301H			Q15746	MYLK_HUMAN	myosin light chain kinase	1301	Actin-binding (calcium/calmodulin- insensitive). {ECO:0000250}.|Ig-like C2-type 8.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GTGCTCCTGGCGCGCGGCCAG	0.627																																						ENST00000360772.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.(3901-3903)cGc>cAc		myosin light chain kinase							137.0	131.0	133.0					3																	123383035		2203	4300	6503	SO:0001583	missense	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123383035C>T	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.3902G>A	3.37:g.123383035C>T	ENSP00000418335:p.Arg1301His					MYLK_ENST00000354792.5_Missense_Mutation_p.R101H|MYLK_ENST00000359169.1_Missense_Mutation_p.R1301H|MYLK_ENST00000475616.1_Missense_Mutation_p.R1301H|MYLK_ENST00000346322.5_Missense_Mutation_p.R1232H|MYLK_ENST00000360304.3_Missense_Mutation_p.R1301H	p.R1301H			Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	24	4280	-		Lung NSC(201;0.0496)	1301			Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Ig-like C2-type 8.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	37	c.3902G>A	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.074320	0.76415	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000354792;ENST00000475616;ENST00000508240	T;T;T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28	4.65	4.65	0.58169	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.70448	0.3225	L	0.40543	1.245	0.32450	N	0.545598	D;D;D;D;D	0.71674	0.993;0.996;0.977;0.998;0.995	P;P;P;P;P	0.61070	0.813;0.822;0.696;0.825;0.883	T	0.74959	-0.3486	9	0.51188	T	0.08	.	10.7204	0.46036	0.0:0.9059:0.0:0.0941	.	1301;1232;1301;1232;1301	Q15746-6;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;MYLK_HUMAN	H	1301;1301;1301;1232;101;1301;101	ENSP00000354004:R1301H;ENSP00000353452:R1301H;ENSP00000352088:R1301H;ENSP00000320622:R1232H;ENSP00000346846:R101H;ENSP00000418335:R1301H;ENSP00000422984:R101H	ENSP00000320622:R1232H	R	-	2	0	MYLK	124865725	0.995000	0.38212	0.878000	0.34440	0.896000	0.52359	2.419000	0.44671	2.148000	0.66965	0.655000	0.94253	CGC		0.627	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		63	151	0	0	0	1	0	63	151				
KCNS3	3790	broad.mit.edu	37	2	18113195	18113195	+	Missense_Mutation	SNP	C	C	T	rs556337820		TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr2:18113195C>T	ENST00000403915.1	+	3	1371	c.920C>T	c.(919-921)tCg>tTg	p.S307L	KCNS3_ENST00000304101.4_Missense_Mutation_p.S307L|KCNS3_ENST00000465292.1_Intron	NM_001282428.1	NP_001269357.1	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	307					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel regulator activity (GO:0015459)			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GCCCGGCACTCGGTAGGACTT	0.502													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21868	0.0		0.0	False		,,,				2504	0.0					ENST00000403915.1																			0				endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(919-921)tCg>tTg		potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3							107.0	109.0	108.0					2																	18113195		2203	4300	6503	SO:0001583	missense	3790				energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity	g.chr2:18113195C>T	AF043472	CCDS1692.1	2p24	2011-07-05			ENSG00000170745	ENSG00000170745		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6302	protein-coding gene	gene with protein product		603888				10484328, 16382104	Standard	NM_002252		Approved	Kv9.3	uc002rcw.3	Q9BQ31	OTTHUMG00000044150	ENST00000403915.1:c.920C>T	2.37:g.18113195C>T	ENSP00000385968:p.Ser307Leu					KCNS3_ENST00000465292.1_Intron|KCNS3_ENST00000304101.4_Missense_Mutation_p.S307L	p.S307L			Q9BQ31	KCNS3_HUMAN			3	1371	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		307					D6W520|O43651|Q4ZFY1|Q96B56	Missense_Mutation	SNP	ENST00000403915.1	37	c.920C>T	CCDS1692.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.628041	0.87560	.	.	ENSG00000170745	ENST00000403915;ENST00000304101	D;D	0.98493	-4.96;-4.96	5.86	5.86	0.93980	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98852	0.9612	M	0.72624	2.21	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.99694	1.1002	10	0.59425	D	0.04	.	20.1865	0.98220	0.0:1.0:0.0:0.0	.	307	Q9BQ31	KCNS3_HUMAN	L	307	ENSP00000385968:S307L;ENSP00000305824:S307L	ENSP00000305824:S307L	S	+	2	0	KCNS3	17976676	1.000000	0.71417	0.966000	0.40874	0.966000	0.64601	7.818000	0.86416	2.775000	0.95449	0.655000	0.94253	TCG		0.502	KCNS3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323808.1	NM_002252		28	83	0	0	0	1	0	28	83				
SLC25A3	5250	broad.mit.edu	37	12	98995265	98995265	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr12:98995265A>T	ENST00000228318.3	+	8	1168	c.1048A>T	c.(1048-1050)Atg>Ttg	p.M350L	SLC25A3_ENST00000401722.3_Missense_Mutation_p.M349L|SNORA53_ENST00000391141.1_RNA|SLC25A3_ENST00000188376.5_Missense_Mutation_p.M349L|SLC25A3_ENST00000549338.1_Missense_Mutation_p.M349L|SLC25A3_ENST00000551917.1_Missense_Mutation_p.M350L|SLC25A3_ENST00000548847.1_Missense_Mutation_p.M312L|SLC25A3_ENST00000552981.1_Missense_Mutation_p.M349L	NM_005888.3	NP_005879.1	Q00325	MPCP_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3	350					generation of precursor metabolites and energy (GO:0006091)|phosphate ion transmembrane transport (GO:0035435)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	phosphate ion carrier activity (GO:0015320)|protein complex binding (GO:0032403)|symporter activity (GO:0015293)			breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1)	16		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)		TCCACCCGAGATGCCAGAGTC	0.463																																						ENST00000188376.5																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1)	16						c.(1045-1047)Atg>Ttg		solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3							104.0	99.0	101.0					12																	98995265		2203	4300	6503	SO:0001583	missense	5250				generation of precursor metabolites and energy	integral to plasma membrane|mitochondrial inner membrane	phosphate carrier activity|symporter activity	g.chr12:98995265A>T		CCDS9065.1, CCDS9066.1	12q23.1	2013-05-22			ENSG00000075415	ENSG00000075415		"""Solute carriers"""	10989	protein-coding gene	gene with protein product		600370		PHC		8168843	Standard	NM_213611		Approved		uc001tfo.3	Q00325	OTTHUMG00000170212	ENST00000228318.3:c.1048A>T	12.37:g.98995265A>T	ENSP00000228318:p.Met350Leu					SLC25A3_ENST00000549338.1_Missense_Mutation_p.M349L|SLC25A3_ENST00000548847.1_Missense_Mutation_p.M312L|SLC25A3_ENST00000401722.3_Missense_Mutation_p.M349L|SLC25A3_ENST00000228318.3_Missense_Mutation_p.M350L|SLC25A3_ENST00000552981.1_Missense_Mutation_p.M349L|SLC25A3_ENST00000551917.1_Missense_Mutation_p.M350L	p.M349L	NM_002635.3|NM_213611.2	NP_002626.1|NP_998776.1	Q00325	MPCP_HUMAN		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)	7	1399	+		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)	350					B3KS34|Q7Z7N7|Q96A03	Missense_Mutation	SNP	ENST00000228318.3	37	c.1045A>T	CCDS9066.1	.	.	.	.	.	.	.	.	.	.	A	27.2	4.805349	0.90623	.	.	ENSG00000075415	ENST00000401722;ENST00000188376;ENST00000228318;ENST00000551917;ENST00000552981;ENST00000549338;ENST00000548847	T;T;T;T;T;T;T	0.23552	1.9;1.9;1.9;1.9;1.9;1.9;1.9	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.51312	0.1667	M	0.82193	2.58	0.80722	D	1	P;B;P;P	0.38863	0.65;0.167;0.518;0.65	P;B;P;P	0.54140	0.743;0.354;0.558;0.743	T	0.53662	-0.8407	10	0.56958	D	0.05	-18.1867	15.8636	0.79043	1.0:0.0:0.0:0.0	.	312;349;350;349	F8VVM2;B2RE88;Q00325;Q00325-2	.;.;MPCP_HUMAN;.	L	349;349;350;350;349;349;312	ENSP00000383898:M349L;ENSP00000188376:M349L;ENSP00000228318:M350L;ENSP00000447310:M350L;ENSP00000448708:M349L;ENSP00000447740:M349L;ENSP00000449166:M312L	ENSP00000188376:M349L	M	+	1	0	SLC25A3	97519396	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.676000	0.91199	2.205000	0.71048	0.533000	0.62120	ATG		0.463	SLC25A3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407989.1	NM_005888		11	40	0	0	0	1	0	11	40				
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418																																						ENST00000430580.2																			0											c.e6+1		neuroblastoma breakpoint family, member 1																																				SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16918653C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.34+1G>A	1.37:g.16918653C>T								NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	6	853	-								Q8N4E8|Q9C0H0	Splice_Site	SNP	ENST00000430580.2	37																																																																																						0.418	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Intron	3	41	0	0	0	1	0	3	41				
ZKSCAN5	23660	broad.mit.edu	37	7	99117515	99117515	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr7:99117515C>T	ENST00000394170.2	+	4	870	c.619C>T	c.(619-621)Ctc>Ttc	p.L207F	ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.L207F|ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.L207F	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	207					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					AGCTTCACTTCTCTCAACTGG	0.527																																						ENST00000394170.2																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21						c.(619-621)Ctc>Ttc		zinc finger with KRAB and SCAN domains 5							91.0	82.0	85.0					7																	99117515		2203	4300	6503	SO:0001583	missense	23660				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99117515C>T	AF170025	CCDS5667.1	7q22	2013-01-09	2007-02-20	2007-02-20	ENSG00000196652	ENSG00000196652		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12867	protein-coding gene	gene with protein product		611272	"""zinc finger protein homologous to Zfp95 in mouse"", ""zinc finger protein 95 homolog (mouse)"""	ZFP95		10585779	Standard	NM_014569		Approved	ZNF914, ZSCAN37	uc003uqv.3	Q9Y2L8	OTTHUMG00000156749	ENST00000394170.2:c.619C>T	7.37:g.99117515C>T	ENSP00000377725:p.Leu207Phe					ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.L207F|ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.L207F	p.L207F	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN			4	870	+	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		207					A4D280|D6W5S9	Missense_Mutation	SNP	ENST00000394170.2	37	c.619C>T	CCDS5667.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.224204	0.58668	.	.	ENSG00000196652	ENST00000537357;ENST00000326775;ENST00000451158;ENST00000394170	T;T;T	0.20200	2.09;2.09;2.09	4.65	4.65	0.58169	.	0.159592	0.29868	N	0.010993	T	0.10852	0.0265	N	0.08118	0	0.32004	N	0.602997	B	0.33528	0.416	B	0.32533	0.147	T	0.11397	-1.0589	10	0.21540	T	0.41	.	13.2453	0.60020	0.0:1.0:0.0:0.0	.	207	Q9Y2L8	ZKSC5_HUMAN	F	207	ENSP00000322872:L207F;ENSP00000392104:L207F;ENSP00000377725:L207F	ENSP00000322872:L207F	L	+	1	0	ZKSCAN5	98955451	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.733000	0.38156	2.595000	0.87683	0.563000	0.77884	CTC		0.527	ZKSCAN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345597.1	NM_014569		11	48	0	0	0	1	0	11	48				
BCR	613	broad.mit.edu	37	22	23596158	23596158	+	Silent	SNP	C	C	T			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr22:23596158C>T	ENST00000305877.8	+	2	2203	c.1452C>T	c.(1450-1452)tcC>tcT	p.S484S	BCR_ENST00000359540.3_Silent_p.S484S	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	484					actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of phagocytosis (GO:0050766)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35					Bosutinib(DB06616)|Ponatinib(DB08901)	CCCTGGAGTCCACTAAAGCGG	0.647			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""																																	ENST00000305877.8				Dom	yes		22	22q11.21	613	T	breakpoint cluster region			L	"""ABL1,  FGFR1, JAK2 """		"""CML, ALL, AML"""	BCR/JAK2(6)	0				central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						c.(1450-1452)tcC>tcT		breakpoint cluster region							25.0	19.0	21.0					22																	23596158		2195	4297	6492	SO:0001819	synonymous_variant	613				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr22:23596158C>T		CCDS13806.1, CCDS13807.1	22q11	2013-01-10			ENSG00000186716	ENSG00000186716		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	1014	protein-coding gene	gene with protein product		151410		D22S11, BCR1		1657398, 18070886	Standard	NM_004327		Approved	D22S662, CML, PHL, ALL	uc002zww.3	P11274	OTTHUMG00000150655	ENST00000305877.8:c.1452C>T	22.37:g.23596158C>T						BCR_ENST00000359540.3_Silent_p.S484S	p.S484S	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN			2	2203	+			484					P78501|Q12842|Q4LE80|Q6NZI3	Silent	SNP	ENST00000305877.8	37	c.1452C>T	CCDS13806.1	.	.	.	.	.	.	.	.	.	.	C	8.380	0.837282	0.16891	.	.	ENSG00000186716	ENST00000334149	.	.	.	4.97	-2.31	0.06765	.	.	.	.	.	T	0.28499	0.0705	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.20605	-1.0270	5	0.12430	T	0.62	.	0.7392	0.00970	0.2448:0.3393:0.1197:0.2962	.	.	.	.	L	149	.	ENSP00000335450:P149L	P	+	2	0	BCR	21926158	0.952000	0.32445	0.549000	0.28204	0.574000	0.36063	0.121000	0.15667	-0.149000	0.11215	-0.282000	0.10007	CCA		0.647	BCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075819.1	NM_004327		5	23	0	0	0	1	0	5	23				
NOSIP	51070	broad.mit.edu	37	19	50060443	50060443	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr19:50060443G>A	ENST00000596358.1	-	5	380	c.322C>T	c.(322-324)Cag>Tag	p.Q108*	NOSIP_ENST00000339093.3_Nonsense_Mutation_p.Q108*|NOSIP_ENST00000391853.3_Nonsense_Mutation_p.Q108*	NM_001270960.1	NP_001257889.1	Q9Y314	NOSIP_HUMAN	nitric oxide synthase interacting protein	108					negative regulation of catalytic activity (GO:0043086)|negative regulation of nitric-oxide synthase activity (GO:0051001)|nitric oxide metabolic process (GO:0046209)|regulation of nitric-oxide synthase activity (GO:0050999)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|skin(2)|urinary_tract(1)	11		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00321)|GBM - Glioblastoma multiforme(134;0.0133)		ACATGGTCCTGCGAGGCCGCC	0.682																																						ENST00000391853.3																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|skin(2)|urinary_tract(1)	11						c.(322-324)Cag>Tag		nitric oxide synthase interacting protein							24.0	25.0	25.0					19																	50060443		2203	4300	6503	SO:0001587	stop_gained	51070				negative regulation of nitric-oxide synthase activity|nitric oxide metabolic process	cytosol|nucleus	protein binding	g.chr19:50060443G>A	AF132959	CCDS12772.1	19q13.3	2008-02-05				ENSG00000142546			17946	protein-coding gene	gene with protein product						11149895, 10810093	Standard	NM_015953		Approved	CGI-25	uc002pol.4	Q9Y314		ENST00000596358.1:c.322C>T	19.37:g.50060443G>A	ENSP00000470034:p.Gln108*					NOSIP_ENST00000596358.1_Nonsense_Mutation_p.Q108*|NOSIP_ENST00000339093.3_Nonsense_Mutation_p.Q108*	p.Q108*	NM_015953.3	NP_057037.1	Q9Y314	NOSIP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00321)|GBM - Glioblastoma multiforme(134;0.0133)	6	473	-		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)	108					Q96FD2	Nonsense_Mutation	SNP	ENST00000596358.1	37	c.322C>T	CCDS12772.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.165670	0.78339	.	.	ENSG00000142546	ENST00000339093;ENST00000391853	.	.	.	5.15	2.91	0.33838	.	0.386687	0.27214	N	0.020382	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	-32.2216	7.9334	0.29916	0.0:0.158:0.5163:0.3258	.	.	.	.	X	108	.	ENSP00000343497:Q108X	Q	-	1	0	NOSIP	54752255	0.887000	0.30362	0.516000	0.27786	0.517000	0.34286	1.364000	0.34171	0.501000	0.28013	0.462000	0.41574	CAG		0.682	NOSIP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465423.1			9	10	0	0	0	1	0	9	10				
C2orf57	165100	broad.mit.edu	37	2	232458648	232458648	+	Missense_Mutation	SNP	G	G	A	rs140125501	byFrequency	TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr2:232458648G>A	ENST00000313965.2	+	1	1074	c.986G>A	c.(985-987)cGc>cAc	p.R329H		NM_152614.2	NP_689827.2	Q53QW1	CB057_HUMAN	chromosome 2 open reading frame 57	329										endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	19		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)		CCCAGCTTGCGCTCGGTCCCC	0.667													G|||	4	0.000798722	0.0008	0.0014	5008	,	,		17696	0.0		0.0	False		,,,				2504	0.002					ENST00000313965.2																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	19						c.(985-987)cGc>cAc		chromosome 2 open reading frame 57		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	46.0	48.0	47.0		986	0.4	0.3	2	dbSNP_134	47	0,8600		0,0,4300	yes	missense	C2orf57	NM_152614.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	329/396	232458648	1,13005	2203	4300	6503	SO:0001583	missense	165100							g.chr2:232458648G>A	BC034405	CCDS2487.1	2q37.1	2008-02-05			ENSG00000177673	ENSG00000177673			28563	protein-coding gene	gene with protein product						12477932	Standard	NM_152614		Approved	MGC35154	uc002vrz.3	Q53QW1	OTTHUMG00000133226	ENST00000313965.2:c.986G>A	2.37:g.232458648G>A	ENSP00000315557:p.Arg329His						p.R329H	NM_152614.2	NP_689827.2	Q53QW1	CB057_HUMAN		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)	1	1074	+		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)	329					Q8N4F2	Missense_Mutation	SNP	ENST00000313965.2	37	c.986G>A	CCDS2487.1	3	0.0013736263736263737	2	0.0040650406504065045	1	0.0027624309392265192	0	0.0	0	0.0	G	6.286	0.420936	0.11928	2.27E-4	0.0	ENSG00000177673	ENST00000313965	T	0.24723	1.84	5.15	0.372	0.16173	.	0.000000	0.34507	N	0.003919	T	0.13329	0.0323	N	0.19112	0.55	0.23366	N	0.997825	B	0.28850	0.225	B	0.25614	0.062	T	0.16188	-1.0411	10	0.39692	T	0.17	-6.4431	8.1292	0.31016	0.3922:0.0:0.6078:0.0	.	329	Q53QW1	CB057_HUMAN	H	329	ENSP00000315557:R329H	ENSP00000315557:R329H	R	+	2	0	C2orf57	232166892	0.049000	0.20398	0.303000	0.25071	0.032000	0.12392	-0.090000	0.11163	-0.109000	0.12044	-0.252000	0.11476	CGC		0.667	C2orf57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256962.1	NM_152614		19	86	0	0	0	1	0	19	86				
GOSR2	9570	broad.mit.edu	37	17	45009511	45009511	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr17:45009511G>C	ENST00000393456.2	+	4	339	c.282G>C	c.(280-282)agG>agC	p.R94S	GOSR2_ENST00000575949.1_Missense_Mutation_p.R94S|GOSR2_ENST00000576910.2_Missense_Mutation_p.R94S|GOSR2_ENST00000415811.2_Missense_Mutation_p.R94S|GOSR2_ENST00000225567.4_Missense_Mutation_p.R94S|RP11-156P1.2_ENST00000571841.1_Missense_Mutation_p.R94S|GOSR2_ENST00000439730.2_Missense_Mutation_p.R94S	NM_004287.3	NP_004278.2	O14653	GOSR2_HUMAN	golgi SNAP receptor complex member 2	94					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane fusion (GO:0061025)|protein transport (GO:0015031)	Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transporter activity (GO:0005215)			kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|skin(1)	7			BRCA - Breast invasive adenocarcinoma(9;0.102)			GCCATGCAAGGGAGCAGCAGG	0.552																																						ENST00000415811.2																			0				kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|skin(1)	7						c.(280-282)agG>agC		golgi SNAP receptor complex member 2							130.0	122.0	125.0					17																	45009511		2203	4300	6503	SO:0001583	missense	9570				cellular membrane fusion|ER to Golgi vesicle-mediated transport|protein transport	Golgi membrane|integral to membrane	transporter activity	g.chr17:45009511G>C	AF007548	CCDS11507.1, CCDS42355.1, CCDS45719.1	17q21	2006-02-10				ENSG00000108433			4431	protein-coding gene	gene with protein product		604027				9349823, 10198168	Standard	XM_005257843		Approved	GS27, Bos1	uc002ikz.3	O14653		ENST00000393456.2:c.282G>C	17.37:g.45009511G>C	ENSP00000377101:p.Arg94Ser					GOSR2_ENST00000575949.1_Missense_Mutation_p.R94S|GOSR2_ENST00000393456.2_Missense_Mutation_p.R94S|GOSR2_ENST00000225567.4_Missense_Mutation_p.R94S|RP11-156P1.2_ENST00000571841.1_Missense_Mutation_p.R94S|GOSR2_ENST00000439730.2_Missense_Mutation_p.R94S|GOSR2_ENST00000576910.2_Missense_Mutation_p.R94S	p.R94S	NM_001012511.1	NP_001012529.1	O14653	GOSR2_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.102)		4	337	+			94					D3DXJ5|D3DXJ6|Q8N4B8|Q96DA5|Q9BZZ4	Missense_Mutation	SNP	ENST00000393456.2	37	c.282G>C	CCDS42355.1	.	.	.	.	.	.	.	.	.	.	G	17.62	3.434122	0.62955	.	.	ENSG00000108433	ENST00000225567;ENST00000393456;ENST00000415811;ENST00000439730	T;T;T;T	0.44083	0.93;0.93;0.93;1.94	5.38	2.32	0.28847	.	0.247429	0.46145	D	0.000307	T	0.53546	0.1803	M	0.79693	2.465	0.53688	D	0.999975	P;B;P;D	0.59357	0.862;0.148;0.853;0.985	B;B;P;P	0.56700	0.367;0.147;0.474;0.804	T	0.52548	-0.8561	10	0.66056	D	0.02	-8.5667	5.2799	0.15670	0.2159:0.0:0.6401:0.144	.	94;94;94;94	E7EQ34;O14653;O14653-2;Q8N4B8	.;GOSR2_HUMAN;.;.	S	94	ENSP00000225567:R94S;ENSP00000377101:R94S;ENSP00000394559:R94S;ENSP00000390577:R94S	ENSP00000225567:R94S	R	+	3	2	GOSR2	42364510	1.000000	0.71417	0.668000	0.29813	0.857000	0.48899	1.949000	0.40313	0.394000	0.25230	-0.136000	0.14681	AGG		0.552	GOSR2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440438.1			28	122	0	0	0	1	0	28	122				
OR4P4	81300	broad.mit.edu	37	11	55406592	55406592	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr11:55406592G>T	ENST00000314612.2	+	1	759	c.759G>T	c.(757-759)ttG>ttT	p.L253F		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	253						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						CACCTGCATTGTTCATTTACA	0.418																																						ENST00000314612.2																			0				autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						c.(757-759)ttG>ttT		olfactory receptor, family 4, subfamily P, member 4							216.0	160.0	179.0					11																	55406592		2182	4036	6218	SO:0001583	missense	81300				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55406592G>T	AB065775	CCDS31504.1	11q11	2012-08-09			ENSG00000181927	ENSG00000181927		"""GPCR / Class A : Olfactory receptors"""	15180	protein-coding gene	gene with protein product				OR4P3P			Standard	NM_001004124		Approved		uc010rij.2	Q8NGL7	OTTHUMG00000165300	ENST00000314612.2:c.759G>T	11.37:g.55406592G>T	ENSP00000324831:p.Leu253Phe						p.L253F	NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN			1	759	+			253						Missense_Mutation	SNP	ENST00000314612.2	37	c.759G>T	CCDS31504.1	.	.	.	.	.	.	.	.	.	.	G	3.579	-0.086006	0.07097	.	.	ENSG00000181927	ENST00000314612	T	0.41758	0.99	5.51	-11.0	0.00169	GPCR, rhodopsin-like superfamily (1);	0.977054	0.08273	N	0.971094	T	0.21841	0.0526	N	0.15975	0.35	0.09310	N	1	B	0.15141	0.012	B	0.30782	0.12	T	0.50189	-0.8857	10	0.72032	D	0.01	-4.184	6.7247	0.23350	0.1946:0.4345:0.2945:0.0764	.	253	Q8NGL7	OR4P4_HUMAN	F	253	ENSP00000324831:L253F	ENSP00000324831:L253F	L	+	3	2	OR4P4	55163168	0.000000	0.05858	0.001000	0.08648	0.056000	0.15407	-7.984000	0.00026	-3.303000	0.00192	-2.162000	0.00326	TTG		0.418	OR4P4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383356.1	NM_001004124		34	62	1	0	6.2361e-21	1	6.83002e-21	34	62				
C12orf40	283461	broad.mit.edu	37	12	40041631	40041631	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr12:40041631A>G	ENST00000324616.5	+	6	576	c.422A>G	c.(421-423)cAg>cGg	p.Q141R	C12orf40_ENST00000398716.1_Missense_Mutation_p.Q64R|C12orf40_ENST00000405531.3_Missense_Mutation_p.Q141R	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	141										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						CTTCACCCTCAGTTCAGCAAA	0.333																																						ENST00000324616.5																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						c.(421-423)cAg>cGg		chromosome 12 open reading frame 40							88.0	84.0	85.0					12																	40041631		1853	4092	5945	SO:0001583	missense	283461							g.chr12:40041631A>G	AK097445	CCDS41770.1	12q12	2008-08-04			ENSG00000180116	ENSG00000180116			26846	protein-coding gene	gene with protein product						12477932	Standard	XM_005268806		Approved	FLJ40126	uc001rmc.3	Q86WS4	OTTHUMG00000133567	ENST00000324616.5:c.422A>G	12.37:g.40041631A>G	ENSP00000317671:p.Gln141Arg					C12orf40_ENST00000398716.1_Missense_Mutation_p.Q64R|C12orf40_ENST00000405531.3_Missense_Mutation_p.Q141R	p.Q141R	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN			6	576	+			141					B7WNU1|Q8IXY6|Q8N818|V9HW02	Missense_Mutation	SNP	ENST00000324616.5	37	c.422A>G	CCDS41770.1	.	.	.	.	.	.	.	.	.	.	A	11.36	1.615051	0.28712	.	.	ENSG00000180116	ENST00000405531;ENST00000398716;ENST00000324616	T;T	0.46063	0.88;0.88	3.61	3.61	0.41365	.	0.412532	0.17900	N	0.158221	T	0.32734	0.0839	N	0.19112	0.55	0.19945	N	0.999942	P	0.46784	0.884	P	0.47206	0.541	T	0.09292	-1.0681	10	0.54805	T	0.06	.	8.8867	0.35406	1.0:0.0:0.0:0.0	.	141	Q86WS4	CL040_HUMAN	R	141;64;141	ENSP00000383897:Q141R;ENSP00000317671:Q141R	ENSP00000317671:Q141R	Q	+	2	0	C12orf40	38327898	0.004000	0.15560	0.581000	0.28614	0.017000	0.09413	0.046000	0.14035	1.866000	0.54105	0.455000	0.32223	CAG		0.333	C12orf40-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257664.2	NM_173599		7	22	0	0	0	1	0	7	22				
ITGA10	8515	broad.mit.edu	37	1	145533500	145533500	+	Silent	SNP	C	C	T			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr1:145533500C>T	ENST00000369304.3	+	12	1558	c.1383C>T	c.(1381-1383)atC>atT	p.I461I	ITGA10_ENST00000538811.1_Silent_p.I330I|ITGA10_ENST00000539363.1_Silent_p.I318I	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	461					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GAAAAGTCATCGCCTTCCAGC	0.562																																						ENST00000369304.3																			0				NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(1381-1383)atC>atT		integrin, alpha 10							66.0	70.0	69.0					1																	145533500		2203	4300	6503	SO:0001819	synonymous_variant	8515				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	g.chr1:145533500C>T	AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"""Integrins"""	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.1383C>T	1.37:g.145533500C>T						ITGA10_ENST00000538811.1_Silent_p.I330I|ITGA10_ENST00000539363.1_Silent_p.I318I	p.I461I	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN			12	1558	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		461					B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Silent	SNP	ENST00000369304.3	37	c.1383C>T	CCDS918.1																																																																																				0.562	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038537.2	NM_003637		23	39	0	0	0	1	0	23	39				
THSD7A	221981	broad.mit.edu	37	7	11630167	11630167	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr7:11630167C>T	ENST00000423059.4	-	4	1624	c.1373G>A	c.(1372-1374)gGc>gAc	p.G458D		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	458	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GGTCTGGATGCCCCCTCCACA	0.547										HNSCC(18;0.044)																												ENST00000423059.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113						c.(1372-1374)gGc>gAc		thrombospondin, type I, domain containing 7A							61.0	67.0	65.0					7																	11630167		1964	4152	6116	SO:0001583	missense	221981					integral to membrane		g.chr7:11630167C>T		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.1373G>A	7.37:g.11630167C>T	ENSP00000406482:p.Gly458Asp	HNSCC(18;0.044)					p.G458D	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	4	1624	-			458			TSP type-1 4.			Missense_Mutation	SNP	ENST00000423059.4	37	c.1373G>A	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	C	34	5.378314	0.95945	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.71817	-0.6	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.89054	0.6606	M	0.93507	3.425	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.91027	0.4861	10	0.87932	D	0	.	20.0545	0.97645	0.0:1.0:0.0:0.0	.	458	Q9UPZ6	THS7A_HUMAN	D	458	ENSP00000406482:G458D	ENSP00000262042:G458D	G	-	2	0	THSD7A	11596692	1.000000	0.71417	0.595000	0.28798	0.904000	0.53231	7.818000	0.86416	2.748000	0.94277	0.655000	0.94253	GGC		0.547	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		15	36	0	0	0	1	0	15	36				
CARD10	29775	broad.mit.edu	37	22	37892523	37892523	+	Silent	SNP	G	G	A			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr22:37892523G>A	ENST00000403299.1	-	14	2208	c.1992C>T	c.(1990-1992)gcC>gcT	p.A664A	CARD10_ENST00000251973.5_Silent_p.A664A|CARD10_ENST00000406271.3_Silent_p.A378A			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	664					activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein complex assembly (GO:0006461)|regulation of apoptotic process (GO:0042981)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)	receptor signaling complex scaffold activity (GO:0030159)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					GCTGGGCCTCGGCTTCCAGGC	0.612																																						ENST00000403299.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17						c.(1990-1992)gcC>gcT		caspase recruitment domain family, member 10							65.0	56.0	59.0					22																	37892523		2203	4300	6503	SO:0001819	synonymous_variant	29775				activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity	g.chr22:37892523G>A	AF086324	CCDS13948.1	22q13.1	2008-05-22			ENSG00000100065	ENSG00000100065			16422	protein-coding gene	gene with protein product		607209				11259443, 11356195	Standard	NM_014550		Approved	CARMA3, BIMP1	uc003asu.1	Q9BWT7	OTTHUMG00000150592	ENST00000403299.1:c.1992C>T	22.37:g.37892523G>A						CARD10_ENST00000406271.3_Silent_p.A378A|CARD10_ENST00000251973.5_Silent_p.A664A	p.A664A			Q9BWT7	CAR10_HUMAN			14	2208	-	Melanoma(58;0.0574)		664					Q14CQ8|Q5TFG6|Q8NC81|Q9UGR5|Q9UGR6|Q9Y3H0	Silent	SNP	ENST00000403299.1	37	c.1992C>T	CCDS13948.1																																																																																				0.612	CARD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318997.1	NM_014550		15	39	0	0	0	1	0	15	39				
ZNF277	11179	broad.mit.edu	37	7	111927000	111927000	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr7:111927000C>G	ENST00000361822.3	+	2	293	c.164C>G	c.(163-165)tCt>tGt	p.S55C	RN7SKP187_ENST00000365536.1_RNA|ZNF277_ENST00000450657.1_Missense_Mutation_p.S55C|ZNF277_ENST00000421043.1_Missense_Mutation_p.S55C	NM_021994.2	NP_068834.2	Q9NRM2	ZN277_HUMAN	zinc finger protein 277	55					cellular response to hydrogen peroxide (GO:0070301)|regulation of cellular senescence (GO:2000772)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						TTAGAAGGTTCTCCATCTGTG	0.408																																						ENST00000421043.1																			0				breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						c.(163-165)tCt>tGt		zinc finger protein 277							92.0	86.0	88.0					7																	111927000		2203	4300	6503	SO:0001583	missense	11179					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:111927000C>G	AF209198	CCDS5755.2	7q31.1	2012-10-05	2007-10-23	2007-10-23	ENSG00000198839	ENSG00000198839			13070	protein-coding gene	gene with protein product		605465	"""zinc finger protein (C2H2 type) 277"", ""zinc finger protein 277 pseudogene"""	ZNF277P		10860669, 16213364, 16395595	Standard	NM_021994		Approved	NRIF4	uc003vge.2	Q9NRM2	OTTHUMG00000150209	ENST00000361822.3:c.164C>G	7.37:g.111927000C>G	ENSP00000354501:p.Ser55Cys					ZNF277_ENST00000361822.3_Missense_Mutation_p.S55C|ZNF277_ENST00000450657.1_Missense_Mutation_p.S55C	p.S55C			Q9NRM2	ZN277_HUMAN			2	184	+			55					Q75MZ2|Q75MZ3|Q8WY14	Missense_Mutation	SNP	ENST00000361822.3	37	c.164C>G	CCDS5755.2	.	.	.	.	.	.	.	.	.	.	C	17.61	3.432380	0.62844	.	.	ENSG00000198839	ENST00000361822;ENST00000421043;ENST00000425229;ENST00000450657	T;T	0.33865	1.4;1.39	5.63	4.75	0.60458	.	0.521877	0.21488	N	0.073724	T	0.26593	0.0650	N	0.24115	0.695	0.44500	D	0.997445	B;B	0.15473	0.004;0.013	B;B	0.17098	0.004;0.017	T	0.05937	-1.0855	10	0.72032	D	0.01	-6.4091	11.2969	0.49284	0.1379:0.7162:0.146:0.0	.	55;55	Q9NRM2;G5E9M4	ZN277_HUMAN;.	C	55	ENSP00000354501:S55C;ENSP00000402292:S55C	ENSP00000354501:S55C	S	+	2	0	ZNF277	111714236	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.230000	0.42999	1.375000	0.46248	0.650000	0.86243	TCT		0.408	ZNF277-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316843.2	NM_021994		15	46	0	0	0	1	0	15	46				
ZNF816	125893	broad.mit.edu	37	19	53454620	53454620	+	Silent	SNP	A	A	T			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr19:53454620A>T	ENST00000357666.4	-	5	708	c.408T>A	c.(406-408)acT>acA	p.T136T	ZNF816_ENST00000391786.2_3'UTR|ZNF816_ENST00000434371.2_Intron|ZNF321P_ENST00000391777.3_Intron|ZNF816_ENST00000444460.2_Silent_p.T136T	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	136					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						CTGTACTACCAGTCAACTTTT	0.408																																						ENST00000357666.4																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						c.(406-408)acT>acA		zinc finger protein 816							170.0	175.0	173.0					19																	53454620		2203	4300	6503	SO:0001819	synonymous_variant	125893				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53454620A>T	BC063805	CCDS33096.1	19q13.41	2013-01-08	2010-07-23	2010-07-23		ENSG00000180257		"""Zinc fingers, C2H2-type"", ""-"""	26995	protein-coding gene	gene with protein product			"""zinc finger protein 816A"""	ZNF816A			Standard	NM_001031665		Approved		uc002qam.2	Q0VGE8		ENST00000357666.4:c.408T>A	19.37:g.53454620A>T						ZNF816_ENST00000444460.2_Silent_p.T136T|ZNF321P_ENST00000391777.3_Intron|ZNF816_ENST00000434371.2_Intron|ZNF816_ENST00000391786.2_3'UTR	p.T136T	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN			5	708	-			136					A8K7H5|Q3KR39|Q659B3	Silent	SNP	ENST00000357666.4	37	c.408T>A	CCDS33096.1																																																																																				0.408	ZNF816-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396132.1	NM_001031665		51	129	0	0	0	1	0	51	129				
GCNT3	9245	broad.mit.edu	37	15	59910754	59910754	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr15:59910754T>C	ENST00000396065.1	+	3	765	c.317T>C	c.(316-318)cTc>cCc	p.L106P	GCNT3_ENST00000560585.1_Missense_Mutation_p.L106P	NM_004751.2	NP_004742.1	O95395	GCNT3_HUMAN	glucosaminyl (N-acetyl) transferase 3, mucin type	106					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|immunoglobulin production in mucosal tissue (GO:0002426)|intestinal absorption (GO:0050892)|kidney morphogenesis (GO:0060993)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|tissue morphogenesis (GO:0048729)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylgalactosaminyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0047225)|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TACCTCTCCCTCACCAGAGAC	0.502																																						ENST00000396065.1																			0				central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(316-318)cTc>cCc		glucosaminyl (N-acetyl) transferase 3, mucin type							74.0	79.0	78.0					15																	59910754		2190	4290	6480	SO:0001583	missense	9245				protein O-linked glycosylation	Golgi membrane|integral to membrane|membrane fraction	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	g.chr15:59910754T>C	AF102542	CCDS10172.1	15q22	2013-02-25			ENSG00000140297	ENSG00000140297	2.4.1.102, 2.4.1.150	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4205	protein-coding gene	gene with protein product		606836				9915862, 9988682	Standard	NM_004751		Approved	C2GnT-M, C2/4GnT, C2GnT2	uc002age.3	O95395	OTTHUMG00000132726	ENST00000396065.1:c.317T>C	15.37:g.59910754T>C	ENSP00000379377:p.Leu106Pro					GCNT3_ENST00000560585.1_Missense_Mutation_p.L106P	p.L106P	NM_004751.2	NP_004742.1	O95395	GCNT3_HUMAN			3	765	+			106						Missense_Mutation	SNP	ENST00000396065.1	37	c.317T>C	CCDS10172.1	.	.	.	.	.	.	.	.	.	.	T	6.491	0.458784	0.12342	.	.	ENSG00000140297	ENST00000396065	T	0.45668	0.89	6.16	3.81	0.43845	.	0.622519	0.18332	N	0.144445	T	0.30198	0.0757	L	0.29908	0.895	0.44241	D	0.997081	B	0.33448	0.412	B	0.32289	0.143	T	0.06516	-1.0822	10	0.62326	D	0.03	.	9.1813	0.37143	0.0:0.0637:0.1246:0.8117	.	106	O95395	GCNT3_HUMAN	P	106	ENSP00000379377:L106P	ENSP00000379377:L106P	L	+	2	0	GCNT3	57698046	1.000000	0.71417	0.310000	0.25168	0.015000	0.08874	4.789000	0.62446	0.531000	0.28639	-0.297000	0.09499	CTC		0.502	GCNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256068.1	NM_004751		23	45	0	0	0	1	0	23	45				
KIAA1161	57462	broad.mit.edu	37	9	34372233	34372233	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr9:34372233T>C	ENST00000297625.7	-	2	832	c.607A>G	c.(607-609)Atc>Gtc	p.I203V		NM_020702.3	NP_065753.2	Q6NSJ0	K1161_HUMAN	KIAA1161	237					carbohydrate metabolic process (GO:0005975)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of protein kinase B signaling (GO:0051897)|skeletal muscle fiber development (GO:0048741)	integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		TTGACTTTGATGGCGGCCGCG	0.657																																						ENST00000297625.7																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12						c.(607-609)Atc>Gtc		KIAA1161							12.0	16.0	14.0					9																	34372233		2036	4153	6189	SO:0001583	missense	57462				carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr9:34372233T>C	AB032987		9p11.2	2009-11-06			ENSG00000164976	ENSG00000164976			19918	protein-coding gene	gene with protein product						10574461	Standard	XM_006716808		Approved	NET37	uc003zue.4	Q6NSJ0	OTTHUMG00000019816	ENST00000297625.7:c.607A>G	9.37:g.34372233T>C	ENSP00000297625:p.Ile203Val						p.I203V	NM_020702.3	NP_065753.2	Q6NSJ0	K1161_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)	2	832	-			237					Q5T587|Q5T588|Q9ULQ9	Missense_Mutation	SNP	ENST00000297625.7	37	c.607A>G		.	.	.	.	.	.	.	.	.	.	T	16.12	3.032103	0.54790	.	.	ENSG00000164976	ENST00000297625;ENST00000379142	T;T	0.70164	-0.46;-0.46	5.87	5.87	0.94306	.	0.048538	0.85682	D	0.000000	T	0.55529	0.1926	L	0.52206	1.635	0.49915	D	0.999839	P	0.49559	0.925	B	0.38683	0.279	T	0.59273	-0.7485	10	0.06236	T	0.91	-8.3503	15.0928	0.72207	0.0:0.0:0.0:1.0	.	237	Q6NSJ0	K1161_HUMAN	V	203;105	ENSP00000297625:I203V;ENSP00000368437:I105V	ENSP00000297625:I203V	I	-	1	0	KIAA1161	34362233	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.957000	0.87870	2.244000	0.73946	0.533000	0.62120	ATC		0.657	KIAA1161-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000052158.1	XM_351807		5	20	0	0	0	1	0	5	20				
DMBX1	127343	broad.mit.edu	37	1	46976214	46976214	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr1:46976214C>T	ENST00000360032.3	+	2	235	c.221C>T	c.(220-222)aCg>aTg	p.T74M	DMBX1_ENST00000371956.4_Missense_Mutation_p.T79M	NM_172225.1	NP_757379.1			diencephalon/mesencephalon homeobox 1											endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					ACAGCGTTCACGGCTCAGCAG	0.577																																						ENST00000371956.4																			0				endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(235-237)aCg>aTg		diencephalon/mesencephalon homeobox 1							74.0	66.0	69.0					1																	46976214		2203	4300	6503	SO:0001583	missense	127343				brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:46976214C>T	AB037699	CCDS536.1	1p34.1	2011-06-20	2004-03-29	2004-03-30	ENSG00000197587	ENSG00000197587		"""Homeoboxes / PRD class"""	19026	protein-coding gene	gene with protein product		607410	"""orthodenticle homolog 3 (Drosophila)"""	OTX3			Standard	NM_147192		Approved	PAXB	uc001cpx.3	Q8NFW5	OTTHUMG00000007982	ENST00000360032.3:c.221C>T	1.37:g.46976214C>T	ENSP00000353132:p.Thr74Met					DMBX1_ENST00000360032.3_Missense_Mutation_p.T74M	p.T79M	NM_147192.2	NP_671725.1	Q8NFW5	DMBX1_HUMAN			2	251	+	Acute lymphoblastic leukemia(166;0.155)		79			Interacts with OXT2 and is required for repressor activity (By similarity).			Missense_Mutation	SNP	ENST00000360032.3	37	c.236C>T	CCDS536.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.303512	0.81136	.	.	ENSG00000197587	ENST00000371956;ENST00000360032	D;D	0.97016	-4.21;-4.21	4.81	4.81	0.61882	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.094216	0.64402	D	0.000001	D	0.99193	0.9720	H	0.99922	4.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.979	D	0.98395	1.0565	10	0.87932	D	0	.	17.2476	0.87032	0.0:1.0:0.0:0.0	.	79;74	Q8NFW5;Q8NFW5-2	DMBX1_HUMAN;.	M	79;74	ENSP00000361024:T79M;ENSP00000353132:T74M	ENSP00000353132:T74M	T	+	2	0	DMBX1	46748801	1.000000	0.71417	0.906000	0.35671	0.709000	0.40893	6.059000	0.71133	2.403000	0.81681	0.491000	0.48974	ACG		0.577	DMBX1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021895.1			10	41	0	0	0	1	0	10	41				
DHX16	8449	broad.mit.edu	37	6	30622519	30622519	+	Silent	SNP	G	G	A	rs572330004		TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr6:30622519G>A	ENST00000376442.3	-	19	3156	c.2961C>T	c.(2959-2961)caC>caT	p.H987H	DHX16_ENST00000376437.5_Silent_p.H506H	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	987					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			kidney(2)|ovary(2)	4						AGACAAGTTCGTGGTAGAGCA	0.537																																						ENST00000376442.3																			0				kidney(2)|ovary(2)	4						c.(2959-2961)caC>caT		DEAH (Asp-Glu-Ala-His) box polypeptide 16							139.0	115.0	123.0					6																	30622519		1511	2709	4220	SO:0001819	synonymous_variant	8449				mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity	g.chr6:30622519G>A	AB001601	CCDS4685.1	6p21.3	2010-02-17	2003-06-13	2003-06-20	ENSG00000204560	ENSG00000204560		"""DEAH-boxes"""	2739	protein-coding gene	gene with protein product		603405	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 16"""	DDX16		9547260	Standard	NM_003587		Approved	DBP2, Prp2, PRPF2	uc003nqz.3	O60231	OTTHUMG00000031060	ENST00000376442.3:c.2961C>T	6.37:g.30622519G>A						DHX16_ENST00000376437.5_Silent_p.H506H	p.H987H	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN			19	3156	-			987					O60322|Q5JP45|Q969X7|Q96QC1	Silent	SNP	ENST00000376442.3	37	c.2961C>T	CCDS4685.1																																																																																				0.537	DHX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076076.2	NM_003587		40	56	0	0	0	1	0	40	56				
MYCBP2	23077	broad.mit.edu	37	13	77847776	77847776	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr13:77847776A>G	ENST00000544440.2	-	5	679	c.662T>C	c.(661-663)aTc>aCc	p.I221T	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.I221T|MYCBP2_ENST00000407578.2_Missense_Mutation_p.I259T					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TCGAACGGTGATTTCCAAAAG	0.388																																						ENST00000407578.2																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(775-777)aTc>aCc		MYC binding protein 2, E3 ubiquitin protein ligase							82.0	78.0	79.0					13																	77847776		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77847776A>G	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.662T>C	13.37:g.77847776A>G	ENSP00000444596:p.Ile221Thr					MYCBP2_ENST00000357337.6_Missense_Mutation_p.I221T|MYCBP2_ENST00000544440.2_Missense_Mutation_p.I221T|MYCBP2_ENST00000360084.5_5'UTR	p.I259T	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	5	1042	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	221						Missense_Mutation	SNP	ENST00000544440.2	37	c.776T>C		.	.	.	.	.	.	.	.	.	.	A	13.75	2.328908	0.41197	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.28069	1.63;1.63;1.63	5.52	5.52	0.82312	.	0.060068	0.64402	D	0.000003	T	0.20577	0.0495	N	0.12182	0.205	0.42364	D	0.992422	B	0.02656	0.0	B	0.04013	0.001	T	0.03443	-1.1036	10	0.46703	T	0.11	.	15.6201	0.76799	1.0:0.0:0.0:0.0	.	221	O75592	MYCB2_HUMAN	T	221;259;221	ENSP00000349892:I221T;ENSP00000384288:I259T;ENSP00000444596:I221T	ENSP00000349892:I221T	I	-	2	0	MYCBP2	76745777	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.845000	0.69437	2.084000	0.62774	0.477000	0.44152	ATC		0.388	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		19	53	0	0	0	1	0	19	53				
ATIC	471	broad.mit.edu	37	2	216177193	216177193	+	Intron	SNP	T	T	G			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr2:216177193T>G	ENST00000236959.9	+	2	345				ATIC_ENST00000540518.1_Intron|ATIC_ENST00000435675.1_De_novo_Start_OutOfFrame	NM_004044.6	NP_004035.2	P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase						'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|dihydrofolate metabolic process (GO:0046452)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|organ regeneration (GO:0031100)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	IMP cyclohydrolase activity (GO:0003937)|phosphoribosylaminoimidazolecarboxamide formyltransferase activity (GO:0004643)|protein homodimerization activity (GO:0042803)		ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Methotrexate(DB00563)|Pemetrexed(DB00642)|Tetrahydrofolic acid(DB00116)	GTGCTGCGAATCATGAGAAAA	0.507			T	ALK	ALCL																																	ENST00000435675.1				Dom	yes		2	2q35	471	T	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase			L	ALK		ALCL	ATIC/ALK(24)	0				large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8								5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	Tetrahydrofolic acid(DB00116)						116.0	112.0	114.0					2																	216177193		2203	4300	6503	SO:0001627	intron_variant	471				IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity	g.chr2:216177193T>G		CCDS2398.1	2q35	2010-04-27			ENSG00000138363	ENSG00000138363	2.1.2.3, 3.5.4.10		794	protein-coding gene	gene with protein product	"""phosphoribosylaminoimidazolecarboxamide formyltransferase/IMP cyclohydrolase"""	601731				8567683, 9378707	Standard	NM_004044		Approved	PURH, AICARFT, IMPCHASE	uc002vex.4	P31939	OTTHUMG00000133023	ENST00000236959.9:c.20-28T>G	2.37:g.216177193T>G						ATIC_ENST00000236959.9_Intron|ATIC_ENST00000540518.1_Intron				P31939	PUR9_HUMAN		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	0	380	+		Renal(323;0.229)						A8K202|E9PBU3|Q13856|Q53S28	Translation_Start_Site	SNP	ENST00000236959.9	37		CCDS2398.1																																																																																				0.507	ATIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256610.1	NM_004044		22	73	0	0	0	1	0	22	73				
MYO1E	4643	broad.mit.edu	37	15	59500990	59500990	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr15:59500990C>T	ENST00000288235.4	-	14	1819	c.1420G>A	c.(1420-1422)Ggt>Agt	p.G474S		NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	474	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		GCCCCCTCACCCACCGCATGC	0.537																																						ENST00000288235.4																			0				breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33						c.(1420-1422)Ggt>Agt		myosin IE							152.0	126.0	135.0					15																	59500990		2191	4290	6481	SO:0001583	missense	4643				actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity	g.chr15:59500990C>T	U14391	CCDS32254.1	15q21-q22	2011-09-27				ENSG00000157483		"""Myosins / Myosin superfamily : Class I"""	7599	protein-coding gene	gene with protein product	"""myosin-IC"""	601479				8884266	Standard	NM_004998		Approved	MYO1C, HuncM-IC, MGC104638	uc002aga.4	Q12965		ENST00000288235.4:c.1420G>A	15.37:g.59500990C>T	ENSP00000288235:p.Gly474Ser						p.G474S	NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN		all cancers(107;0.207)	14	1819	-			474			Myosin head-like.		Q14778	Missense_Mutation	SNP	ENST00000288235.4	37	c.1420G>A	CCDS32254.1	.	.	.	.	.	.	.	.	.	.	C	16.15	3.040941	0.55003	.	.	ENSG00000157483	ENST00000288235	D	0.86164	-2.08	5.37	5.37	0.77165	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	T	0.78451	0.4285	N	0.17631	0.505	0.80722	D	1	B	0.19331	0.035	B	0.24006	0.05	T	0.72584	-0.4249	10	0.02654	T	1	.	19.4857	0.95027	0.0:1.0:0.0:0.0	.	474	Q12965	MYO1E_HUMAN	S	474	ENSP00000288235:G474S	ENSP00000288235:G474S	G	-	1	0	MYO1E	57288282	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.750000	0.85110	2.677000	0.91161	0.561000	0.74099	GGT		0.537	MYO1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416024.1	NM_004998		23	62	0	0	0	1	0	23	62				
DSG1	1828	broad.mit.edu	37	18	28914135	28914135	+	Silent	SNP	A	A	G			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr18:28914135A>G	ENST00000257192.4	+	8	1187	c.975A>G	c.(973-975)agA>agG	p.R325R		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	325	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TGAATGAAAGAACAAATGTGG	0.264																																						ENST00000257192.4																			0				NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76						c.(973-975)agA>agG		desmoglein 1							57.0	67.0	63.0					18																	28914135		2200	4290	6490	SO:0001819	synonymous_variant	1828				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding	g.chr18:28914135A>G	X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"""Cadherins / Major cadherins"""	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.975A>G	18.37:g.28914135A>G							p.R325R	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00559)		8	1187	+			325			Cadherin 3.		B7Z845	Silent	SNP	ENST00000257192.4	37	c.975A>G	CCDS11896.1																																																																																				0.264	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1	NM_001942		19	26	0	0	0	1	0	19	26				
TVP23C	201158	broad.mit.edu	37	17	15441469	15441469	+	Intron	SNP	C	C	T	rs568909748	byFrequency	TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr17:15441469C>T	ENST00000225576.3	-	5	558				TVP23C_ENST00000584811.1_Splice_Site|TVP23C_ENST00000428082.2_Splice_Site|TVP23C_ENST00000438826.3_Splice_Site|TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000583206.1_5'Flank|TVP23C_ENST00000519970.1_Intron	NM_145301.2	NP_660344.2	Q96ET8	TV23C_HUMAN	trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)							integral component of membrane (GO:0016021)											TCCAGTGTTCCGCAAAAGACA	0.393													c|||	3	0.000599042	0.0015	0.0	5008	,	,		17476	0.001		0.0	False		,,,				2504	0.0					ENST00000584811.1																			0											c.e7-2		trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)																																				SO:0001627	intron_variant	201158							g.chr17:15441469C>T	BC011952	CCDS11170.1, CCDS45617.1	17p12	2012-11-29	2012-11-29	2012-11-29	ENSG00000175106	ENSG00000175106			30453	protein-coding gene	gene with protein product			"""family with sequence similarity 18, member B2"""	FAM18B2			Standard	NM_001135036		Approved	MGC8763	uc002goq.2	Q96ET8	OTTHUMG00000171461	ENST00000225576.3:c.462+7629G>A	17.37:g.15441469C>T						TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000438826.3_Splice_Site|TVP23C_ENST00000428082.2_Splice_Site|TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000225576.3_Intron								7	1815	-								Q3LIC7	Splice_Site	SNP	ENST00000225576.3	37		CCDS11170.1	.	.	.	.	.	.	.	.	.	.	c	13.58	2.280351	0.40294	.	.	ENSG00000175106	ENST00000438826	.	.	.	4.5	4.5	0.54988	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.0583	0.25111	0.0:0.1033:0.0:0.8967	.	.	.	.	.	-1	.	.	.	-	.	.	FAM18B2	15382194	1.000000	0.71417	0.996000	0.52242	0.698000	0.40448	1.919000	0.40015	0.852000	0.35287	-0.352000	0.07741	.		0.393	TVP23C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130705.2	NM_145301		5	83	0	0	0	1	0	5	83				
FBXO21	23014	broad.mit.edu	37	12	117583968	117583968	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr12:117583968T>C	ENST00000330622.5	-	12	1810	c.1811A>G	c.(1810-1812)tAt>tGt	p.Y604C	FBXO21_ENST00000427718.2_Missense_Mutation_p.Y597C			O94952	FBX21_HUMAN	F-box protein 21	604					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	ubiquitin ligase complex (GO:0000151)	DNA binding (GO:0003677)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		ATCTTCTGGATACCGGATCTC	0.453																																					GBM(168;452 2038 13535 17701 43680)	ENST00000427718.2																			0				breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29						c.(1789-1791)tAt>tGt		F-box protein 21							159.0	148.0	152.0					12																	117583968		2203	4300	6503	SO:0001583	missense	23014				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr12:117583968T>C	AB020682	CCDS9184.1, CCDS44989.1	12q24.23	2004-06-15	2004-06-15					"""F-boxes /  ""other"""""	13592	protein-coding gene	gene with protein product		609095	"""F-box only protein 21"""			10048485, 10531035	Standard	NM_033624		Approved	FBX21, KIAA0875	uc001twk.3	O94952	OTTHUMG00000169495	ENST00000330622.5:c.1811A>G	12.37:g.117583968T>C	ENSP00000328187:p.Tyr604Cys					FBXO21_ENST00000330622.5_Missense_Mutation_p.Y604C	p.Y597C	NM_015002.2|NM_033624.2	NP_055817.1|NP_296373.1	O94952	FBX21_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0291)	12	1864	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		604					B3KMF0|Q5BJG0|Q9H087	Missense_Mutation	SNP	ENST00000330622.5	37	c.1790A>G	CCDS9184.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.220293	0.79464	.	.	ENSG00000135108	ENST00000427718;ENST00000257563;ENST00000535590;ENST00000330622	T;T	0.73152	-0.66;-0.72	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.75436	0.3849	N	0.24115	0.695	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	0.999;0.994;1.0	T	0.79448	-0.1799	10	0.87932	D	0	-19.1181	15.4178	0.74983	0.0:0.0:0.0:1.0	.	453;604;597	Q8IUQ5;O94952;O94952-1	.;FBX21_HUMAN;.	C	597;513;453;604	ENSP00000414468:Y597C;ENSP00000328187:Y604C	ENSP00000257563:Y513C	Y	-	2	0	FBXO21	116068351	1.000000	0.71417	0.934000	0.37439	0.997000	0.91878	5.777000	0.68931	2.040000	0.60383	0.459000	0.35465	TAT		0.453	FBXO21-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404409.1	NM_033624		13	51	0	0	0	1	0	13	51				
WHAMMP3	339005	broad.mit.edu	37	15	23205094	23205094	+	RNA	SNP	G	G	A			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr15:23205094G>A	ENST00000400153.2	-	0	760					NR_003521.1		Q1A5X7	WHAL1_HUMAN	WAS protein homolog associated with actin, golgi membranes and microtubules pseudogene 3																		AGTACTGGAAGAACGTGGTTG	0.373																																						ENST00000400153.2																			0																																																			339005							g.chr15:23205094G>A	BC048987		15q11.2	2014-03-20	2011-06-24	2011-06-24	ENSG00000187667	ENSG00000276141			27892	pseudogene	pseudogene			"""WAS protein homology region 2 domain containing 1-like 1"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 1"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 1 (pseudogene)"""	WHDC1L1, WHAMML1		18226259	Standard	NR_003521		Approved		uc001yvg.3	Q1A5X7	OTTHUMG00000171921		15.37:g.23205094G>A								NR_003521.1						0	760	-								Q1A5X8|Q52M16|Q52M18	RNA	SNP	ENST00000400153.2	37																																																																																						0.373	WHAMMP3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415907.1	NR_003521		3	15	0	0	0	1	0	3	15				
SACS	26278	broad.mit.edu	37	13	23929166	23929166	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr13:23929166C>T	ENST00000382292.3	-	7	1858	c.1585G>A	c.(1585-1587)Gat>Aat	p.D529N	SACS_ENST00000382298.3_Missense_Mutation_p.D529N|SACS_ENST00000476776.1_5'Flank|SACS_ENST00000402364.1_5'UTR			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	529					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TAGATAACATCAACTGACAAG	0.453																																						ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(1585-1587)Gat>Aat		spastic ataxia of Charlevoix-Saguenay (sacsin)							80.0	86.0	84.0					13																	23929166		2203	4300	6503	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23929166C>T	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.1585G>A	13.37:g.23929166C>T	ENSP00000371729:p.Asp529Asn					SACS_ENST00000402364.1_5'UTR|SACS_ENST00000382292.3_Missense_Mutation_p.D529N	p.D529N	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	8	2173	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	529					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.1585G>A	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	12.81	2.050544	0.36181	.	.	ENSG00000151835	ENST00000382292;ENST00000382298;ENST00000423156	T;T;T	0.18657	2.2;2.2;2.2	5.62	5.62	0.85841	.	0.595004	0.18728	N	0.132837	T	0.29620	0.0739	L	0.52573	1.65	0.09310	N	1	B;B;B	0.33345	0.404;0.409;0.001	B;B;B	0.40982	0.268;0.345;0.004	T	0.14392	-1.0474	10	0.24483	T	0.36	.	20.024	0.97514	0.0:1.0:0.0:0.0	.	428;316;529	B2REB1;E9PAL4;Q9NZJ4	.;.;SACS_HUMAN	N	529;529;153	ENSP00000371729:D529N;ENSP00000371735:D529N;ENSP00000390925:D153N	ENSP00000371729:D529N	D	-	1	0	SACS	22827166	0.124000	0.22315	0.008000	0.14137	0.827000	0.46813	3.194000	0.51005	2.813000	0.96785	0.561000	0.74099	GAT		0.453	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		30	56	0	0	0	1	0	30	56				
KIAA1257	57501	broad.mit.edu	37	3	128706656	128706656	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr3:128706656T>C	ENST00000265068.5	-	4	637	c.470A>G	c.(469-471)cAc>cGc	p.H157R	KIAA1257_ENST00000511438.1_Missense_Mutation_p.H157R|KIAA1257_ENST00000515659.1_Missense_Mutation_p.H45R|KIAA1257_ENST00000510149.1_5'UTR	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN	KIAA1257	157										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						GTCACCTTCGTGCCACGGCTT	0.468																																						ENST00000265068.5																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						c.(469-471)cAc>cGc		KIAA1257							36.0	35.0	35.0					3																	128706656		1942	4139	6081	SO:0001583	missense	57501							g.chr3:128706656T>C	AB033083	CCDS46905.1	3q21.3	2011-11-07			ENSG00000114656	ENSG00000114656			29231	protein-coding gene	gene with protein product						10574462	Standard	NM_020741		Approved		uc003elj.4	Q9ULG3	OTTHUMG00000159946	ENST00000265068.5:c.470A>G	3.37:g.128706656T>C	ENSP00000265068:p.His157Arg					KIAA1257_ENST00000511438.1_Missense_Mutation_p.H157R|KIAA1257_ENST00000510149.1_5'UTR|KIAA1257_ENST00000515659.1_Missense_Mutation_p.H45R	p.H157R	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN			4	637	-			157					Q8IXY7|Q8N5T4	Missense_Mutation	SNP	ENST00000265068.5	37	c.470A>G	CCDS46905.1	.	.	.	.	.	.	.	.	.	.	T	4.314	0.057533	0.08339	.	.	ENSG00000114656	ENST00000511438;ENST00000265068;ENST00000515659	.	.	.	5.32	-9.31	0.00646	.	2.853860	0.01059	N	0.004619	T	0.13329	0.0323	N	0.12182	0.205	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.21690	-1.0238	9	0.11182	T	0.66	6.3422	0.5812	0.00712	0.3656:0.1104:0.2145:0.3095	.	157;157	Q9ULG3;D6RH05	K1257_HUMAN;.	R	157;157;45	.	ENSP00000265068:H157R	H	-	2	0	KIAA1257	130189346	0.000000	0.05858	0.000000	0.03702	0.723000	0.41478	-1.485000	0.02314	-1.730000	0.01362	-1.286000	0.01371	CAC		0.468	KIAA1257-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000358430.1	NM_020741		5	11	0	0	0	1	0	5	11				
NGFR	4804	broad.mit.edu	37	17	47579544	47579544	+	Silent	SNP	C	C	A	rs145359531	byFrequency	TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr17:47579544C>A	ENST00000172229.3	+	2	311	c.186C>A	c.(184-186)acC>acA	p.T62T	NGFR_ENST00000504201.1_De_novo_Start_InFrame	NM_002507.3	NP_002498.1	P08138	TNR16_HUMAN	nerve growth factor receptor	62					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|detection of temperature stimulus (GO:0016048)|glucose homeostasis (GO:0042593)|hair follicle morphogenesis (GO:0031069)|intracellular protein transport (GO:0006886)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell cycle (GO:0045786)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of hair follicle development (GO:0051799)|nerve development (GO:0021675)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of axonogenesis (GO:0050772)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of odontogenesis of dentin-containing tooth (GO:0042488)|regulation of axonogenesis (GO:0050770)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of glucose import in response to insulin stimulus (GO:2001273)	cell surface (GO:0009986)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|neuronal postsynaptic density (GO:0097481)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	death receptor activity (GO:0005035)|Rab GTPase binding (GO:0017137)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					CCAACCAGACCGTGTGTGAGC	0.652																																						ENST00000504201.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17								nerve growth factor receptor							65.0	57.0	60.0					17																	47579544		2203	4300	6503	SO:0001819	synonymous_variant	4804				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis	cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm		g.chr17:47579544C>A	M14764	CCDS11549.1	17q21-q22	2013-05-22	2010-04-28		ENSG00000064300	ENSG00000064300		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	7809	protein-coding gene	gene with protein product	"""low affinity nerve growth factor receptor"", ""TNFR superfamily, member 16"""	162010	"""nerve growth factor receptor (TNFR superfamily, member 16)"""			3022937, 3006050	Standard	NM_002507		Approved	TNFRSF16, CD271, p75NTR	uc002ioz.4	P08138	OTTHUMG00000161495	ENST00000172229.3:c.186C>A	17.37:g.47579544C>A						NGFR_ENST00000172229.3_Silent_p.T62T				P08138	TNR16_HUMAN			0	379	+	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)							B2R961|B4E096	Translation_Start_Site	SNP	ENST00000172229.3	37		CCDS11549.1																																																																																				0.652	NGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365150.1			22	57	1	0	1.50039e-11	1	1.61257e-11	22	57				
EIF4G1	1981	broad.mit.edu	37	3	184039336	184039336	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr3:184039336G>A	ENST00000346169.2	+	10	1235	c.964G>A	c.(964-966)Gaa>Aaa	p.E322K	EIF4G1_ENST00000392537.2_Missense_Mutation_p.E235K|EIF4G1_ENST00000411531.1_Missense_Mutation_p.E282K|EIF4G1_ENST00000319274.6_Missense_Mutation_p.E322K|EIF4G1_ENST00000441154.1_Missense_Mutation_p.E158K|EIF4G1_ENST00000427845.1_Missense_Mutation_p.E235K|EIF4G1_ENST00000342981.4_Missense_Mutation_p.E322K|EIF4G1_ENST00000350481.5_Missense_Mutation_p.E158K|EIF4G1_ENST00000352767.3_Missense_Mutation_p.E329K|EIF4G1_ENST00000434061.2_Missense_Mutation_p.E126K|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000424196.1_Missense_Mutation_p.E329K|EIF4G1_ENST00000382330.3_Missense_Mutation_p.E329K|EIF4G1_ENST00000435046.2_Missense_Mutation_p.E126K|EIF4G1_ENST00000414031.1_Missense_Mutation_p.E282K	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	322					cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCCTCTCGCCGAACCCATACT	0.507																																						ENST00000342981.4																			0				central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75						c.(964-966)Gaa>Aaa		eukaryotic translation initiation factor 4 gamma, 1							74.0	72.0	73.0					3																	184039336		2203	4300	6503	SO:0001583	missense	1981				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr3:184039336G>A	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.964G>A	3.37:g.184039336G>A	ENSP00000316879:p.Glu322Lys					EIF4G1_ENST00000319274.6_Missense_Mutation_p.E322K|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000392537.2_Missense_Mutation_p.E235K|EIF4G1_ENST00000346169.2_Missense_Mutation_p.E322K|EIF4G1_ENST00000352767.3_Missense_Mutation_p.E329K|EIF4G1_ENST00000411531.1_Missense_Mutation_p.E282K|EIF4G1_ENST00000427845.1_Missense_Mutation_p.E235K|EIF4G1_ENST00000435046.2_Missense_Mutation_p.E126K|EIF4G1_ENST00000434061.2_Missense_Mutation_p.E126K|EIF4G1_ENST00000382330.3_Missense_Mutation_p.E329K|EIF4G1_ENST00000414031.1_Missense_Mutation_p.E282K|EIF4G1_ENST00000350481.5_Missense_Mutation_p.E158K|EIF4G1_ENST00000424196.1_Missense_Mutation_p.E329K|EIF4G1_ENST00000441154.1_Missense_Mutation_p.E158K	p.E322K	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		9	1378	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		322					D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	ENST00000346169.2	37	c.964G>A	CCDS3259.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.191336	0.78902	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000444134;ENST00000450424;ENST00000421110;ENST00000382330;ENST00000426123;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000444861;ENST00000441154;ENST00000428387;ENST00000434061;ENST00000427607;ENST00000457456;ENST00000435046	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.49139	3.91;3.91;3.83;0.88;2.84;2.84;3.91;3.0;3.73;3.91;3.84;3.9;3.91;3.91;3.9;2.4;3.74;0.79;3.75;0.88;1.38;3.76	5.2	5.2	0.72013	.	0.272902	0.34268	N	0.004115	T	0.48484	0.1502	N	0.19112	0.55	0.40396	D	0.979597	D;P;D;P	0.63046	0.992;0.628;0.992;0.897	D;B;D;B	0.65443	0.935;0.077;0.935;0.212	T	0.22487	-1.0215	10	0.07813	T	0.8	-14.9665	15.9531	0.79859	0.0:0.0:1.0:0.0	.	329;322;322;329	E9PFM1;D3DNT2;Q04637;B2RU10	.;.;IF4G1_HUMAN;.	K	322;282;235;126;322;329;329;263;158;329;235;322;322;329;282;158;158;126;126;126;126;126	ENSP00000316879:E322K;ENSP00000391935:E282K;ENSP00000376320:E235K;ENSP00000407244:E126K;ENSP00000391412:E322K;ENSP00000413159:E329K;ENSP00000371767:E329K;ENSP00000403269:E263K;ENSP00000317600:E158K;ENSP00000338020:E329K;ENSP00000407682:E235K;ENSP00000343450:E322K;ENSP00000323737:E322K;ENSP00000416255:E329K;ENSP00000395974:E282K;ENSP00000398145:E158K;ENSP00000399858:E158K;ENSP00000411707:E126K;ENSP00000411826:E126K;ENSP00000409545:E126K;ENSP00000399969:E126K;ENSP00000404754:E126K	ENSP00000323737:E322K	E	+	1	0	EIF4G1	185522030	1.000000	0.71417	0.994000	0.49952	0.994000	0.84299	4.846000	0.62860	2.861000	0.98227	0.655000	0.94253	GAA		0.507	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		24	46	0	0	0	1	0	24	46				
SPATA31D5P	347127	broad.mit.edu	37	9	84532324	84532324	+	RNA	SNP	A	A	C			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr9:84532324A>C	ENST00000527857.1	+	0	2346					NR_026851.1				SPATA31 subfamily D, member 5, pseudogene																		TCCATGGAGAATGTGGGGAAT	0.473																																						ENST00000527857.1																			0																																																			347127							g.chr9:84532324A>C			9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000240632	ENSG00000240632			38602	pseudogene	pseudogene			"""family with sequence similarity 75, member D5"", ""family with sequence similarity 75, member D5, pseudogene"""	FAM75D5			Standard	NR_026851		Approved	FLJ43950, FAM75D5P	uc011lst.2		OTTHUMG00000020087		9.37:g.84532324A>C								NR_026851.1						0	2346	+									RNA	SNP	ENST00000527857.1	37																																																																																						0.473	SPATA31D5P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000052810.2	NR_026851		16	40	0	0	0	1	0	16	40				
RHBDD2	57414	broad.mit.edu	37	7	75517488	75517488	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr7:75517488G>T	ENST00000006777.6	+	4	1051	c.916G>T	c.(916-918)Gtg>Ttg	p.V306L	RHBDD2_ENST00000428119.1_Missense_Mutation_p.V165L|RHBDD2_ENST00000468304.1_3'UTR|RHBDD2_ENST00000318622.4_Missense_Mutation_p.V165L	NM_001040456.1	NP_001035546.1	Q6NTF9	RHBD2_HUMAN	rhomboid domain containing 2	306						Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|lung(4)|prostate(1)	6						CCTGTGCTATGTGCAGAACCA	0.667																																						ENST00000318622.4																			0				kidney(1)|lung(4)|prostate(1)	6						c.(493-495)Gtg>Ttg		rhomboid domain containing 2							90.0	104.0	100.0					7																	75517488		2127	4245	6372	SO:0001583	missense	57414					integral to membrane	serine-type endopeptidase activity	g.chr7:75517488G>T	AF226732	CCDS43602.1, CCDS43603.1	7q11	2008-09-04	2006-02-22	2006-02-22	ENSG00000005486	ENSG00000005486			23082	protein-coding gene	gene with protein product		615203	"""rhomboid, veinlet-like 7 (Drosophila)"""	RHBDL7		12838346	Standard	XM_005250511		Approved	NPD007	uc003udw.1	Q6NTF9	OTTHUMG00000156435	ENST00000006777.6:c.916G>T	7.37:g.75517488G>T	ENSP00000006777:p.Val306Leu					RHBDD2_ENST00000006777.6_Missense_Mutation_p.V306L|RHBDD2_ENST00000468304.1_3'UTR|RHBDD2_ENST00000428119.1_Missense_Mutation_p.V165L	p.V165L	NM_001040457.1	NP_001035547.1	Q6NTF9	RHBD2_HUMAN			5	1122	+			306					Q7L534|Q9H5W6|Q9HBK7|Q9UDT2	Missense_Mutation	SNP	ENST00000006777.6	37	c.493G>T	CCDS43602.1	.	.	.	.	.	.	.	.	.	.	G	17.69	3.452092	0.63290	.	.	ENSG00000005486	ENST00000006777;ENST00000413229;ENST00000318622;ENST00000428119	T	0.38240	1.15	5.1	5.1	0.69264	.	0.260739	0.28555	N	0.014936	T	0.24967	0.0606	N	0.19112	0.55	0.32596	N	0.526533	P	0.42735	0.788	B	0.36464	0.225	T	0.33675	-0.9859	10	0.49607	T	0.09	-13.526	15.8289	0.78736	0.0:0.0:1.0:0.0	.	306	Q6NTF9	RHBD2_HUMAN	L	306;350;165;165	ENSP00000006777:V306L	ENSP00000006777:V306L	V	+	1	0	RHBDD2	75355424	0.004000	0.15560	0.998000	0.56505	0.243000	0.25628	0.727000	0.25999	2.660000	0.90430	0.655000	0.94253	GTG		0.667	RHBDD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344176.1	NM_020684		56	188	1	0	1.61742e-36	1	1.82356e-36	56	188				
KIAA0408	9729	broad.mit.edu	37	6	127767859	127767859	+	Silent	SNP	A	A	G			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr6:127767859A>G	ENST00000483725.3	-	5	1941	c.1605T>C	c.(1603-1605)aaT>aaC	p.N535N	SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	535										endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		CGTGGAGCATATTTCGATAAC	0.483																																						ENST00000483725.3																			0				endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28						c.(1603-1605)aaT>aaC		KIAA0408							135.0	126.0	129.0					6																	127767859		2203	4300	6503	SO:0001819	synonymous_variant	9729						protein binding	g.chr6:127767859A>G	AB007868	CCDS34531.1	6q22.33	2012-11-29			ENSG00000189367	ENSG00000189367			21636	protein-coding gene	gene with protein product							Standard	NM_014702		Approved		uc011ebs.2	Q6ZU52	OTTHUMG00000166439	ENST00000483725.3:c.1605T>C	6.37:g.127767859A>G						SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR	p.N535N	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN		GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)	5	1941	-			535					B3KRE5|E1P573|O43158|Q5TF20|Q7L2M2	Silent	SNP	ENST00000483725.3	37	c.1605T>C	CCDS34531.1																																																																																				0.483	KIAA0408-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042145.3	NM_014702		19	19	0	0	0	1	0	19	19				
ARHGAP30	257106	broad.mit.edu	37	1	161017688	161017688	+	Silent	SNP	G	G	A			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr1:161017688G>A	ENST00000368013.3	-	12	3443	c.3123C>T	c.(3121-3123)gcC>gcT	p.A1041A	USF1_ENST00000368020.1_5'Flank|USF1_ENST00000368021.3_5'Flank|ARHGAP30_ENST00000368016.3_Silent_p.A830A|USF1_ENST00000435396.1_5'Flank|ARHGAP30_ENST00000368015.1_Silent_p.A864A	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	1041					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			GAGGAGAATGGGCAGAGATCA	0.592																																						ENST00000368013.3																			0				breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(3121-3123)gcC>gcT		Rho GTPase activating protein 30							85.0	80.0	82.0					1																	161017688		2203	4300	6503	SO:0001819	synonymous_variant	257106				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr1:161017688G>A	AL832852	CCDS1215.1, CCDS30918.1, CCDS72958.1	1q23.3	2011-06-29			ENSG00000186517	ENSG00000186517		"""Rho GTPase activating proteins"""	27414	protein-coding gene	gene with protein product		614264					Standard	NM_001287602		Approved	FLJ00267	uc001fxl.3	Q7Z6I6	OTTHUMG00000031477	ENST00000368013.3:c.3123C>T	1.37:g.161017688G>A						ARHGAP30_ENST00000368016.3_Silent_p.A830A|ARHGAP30_ENST00000368015.1_Silent_p.A864A	p.A1041A	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00122)		12	3443	-	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		1041					Q5SY52|Q5SY53|Q5SY54|Q6ZML6|Q7Z3J8|Q86XI7	Silent	SNP	ENST00000368013.3	37	c.3123C>T	CCDS30918.1																																																																																				0.592	ARHGAP30-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077090.2	NM_181720		17	64	0	0	0	1	0	17	64				
CEP135	9662	broad.mit.edu	37	4	56820470	56820470	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr4:56820470G>T	ENST00000257287.4	+	4	517	c.393G>T	c.(391-393)ttG>ttT	p.L131F	CEP135_ENST00000422247.2_Missense_Mutation_p.L131F	NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	131					centriole replication (GO:0007099)|centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)	protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					TCAAACTGTTGGAGAAAGAGA	0.343																																						ENST00000257287.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50						c.(391-393)ttG>ttT		centrosomal protein 135kDa							69.0	68.0	68.0					4																	56820470		2203	4299	6502	SO:0001583	missense	9662				centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding	g.chr4:56820470G>T	AB014535	CCDS33986.1	4q12	2014-02-20	2005-12-02	2005-12-02	ENSG00000174799	ENSG00000174799			29086	protein-coding gene	gene with protein product		611423	"""KIAA0635"", ""centrosomal protein 4"""	KIAA0635, CEP4		9734811, 14654843	Standard	NM_025009		Approved	FLJ13621	uc003hbi.4	Q66GS9	OTTHUMG00000160748	ENST00000257287.4:c.393G>T	4.37:g.56820470G>T	ENSP00000257287:p.Leu131Phe					CEP135_ENST00000422247.2_Missense_Mutation_p.L131F	p.L131F	NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN			4	517	+	Glioma(25;0.08)|all_neural(26;0.101)		131					B2RMY0|O75130|Q58F25|Q9H8H7	Missense_Mutation	SNP	ENST00000257287.4	37	c.393G>T	CCDS33986.1	.	.	.	.	.	.	.	.	.	.	G	18.90	3.722509	0.68959	.	.	ENSG00000174799	ENST00000422247;ENST00000257287	T	0.58506	0.33	5.54	1.84	0.25277	.	0.161451	0.40385	N	0.001107	T	0.67126	0.2860	M	0.80183	2.485	0.43187	D	0.995015	D;P	0.61697	0.99;0.953	P;P	0.56700	0.804;0.597	T	0.66666	-0.5866	10	0.72032	D	0.01	.	7.2343	0.26062	0.1969:0.0:0.684:0.1192	.	131;131	Q66GS9;Q66GS9-2	CP135_HUMAN;.	F	131	ENSP00000257287:L131F	ENSP00000257287:L131F	L	+	3	2	CEP135	56515227	1.000000	0.71417	0.912000	0.35992	0.984000	0.73092	0.652000	0.24888	0.303000	0.22785	0.591000	0.81541	TTG		0.343	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362092.2	NM_025009		3	38	1	0	1	1	1	3	38				
HELQ	113510	broad.mit.edu	37	4	84362496	84362496	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr4:84362496C>T	ENST00000295488.3	-	7	1786	c.1624G>A	c.(1624-1626)Gag>Aag	p.E542K	HELQ_ENST00000510985.1_Missense_Mutation_p.E475K	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	542					double-strand break repair via homologous recombination (GO:0000724)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						ATGCCATTCTCAGCTTTGCTG	0.313								Other identified genes with known or suspected DNA repair function																														ENST00000295488.3																			0				breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						c.(1624-1626)Gag>Aag	Other identified genes with known or suspected DNA repair function	helicase, POLQ-like							72.0	70.0	71.0					4																	84362496		2202	4299	6501	SO:0001583	missense	113510						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr4:84362496C>T	AF436845	CCDS3603.1, CCDS75158.1	4q21.23	2009-02-26			ENSG00000163312	ENSG00000163312			18536	protein-coding gene	gene with protein product		606769				11751861	Standard	XM_005262711		Approved	Hel308	uc003hom.3	Q8TDG4	OTTHUMG00000130423	ENST00000295488.3:c.1624G>A	4.37:g.84362496C>T	ENSP00000295488:p.Glu542Lys					HELQ_ENST00000510985.1_Missense_Mutation_p.E475K	p.E542K	NM_133636.2	NP_598375.2	Q8TDG4	HELQ_HUMAN			7	1786	-			542					Q05DF9|Q502W9|Q659B8|Q6ZQX4|Q6ZTS4|Q96EX7	Missense_Mutation	SNP	ENST00000295488.3	37	c.1624G>A	CCDS3603.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.161972	0.78226	.	.	ENSG00000163312	ENST00000295488;ENST00000510985	T;T	0.64260	0.25;-0.09	5.59	5.59	0.84812	.	0.316378	0.37669	N	0.001997	T	0.61837	0.2379	M	0.70903	2.155	0.52099	D	0.999944	P;B	0.44429	0.835;0.126	B;B	0.40901	0.343;0.086	T	0.59974	-0.7353	10	0.15066	T	0.55	-8.5952	16.9109	0.86139	0.0:0.8723:0.1277:0.0	.	475;542	E3W980;Q8TDG4	.;HELQ_HUMAN	K	542;475	ENSP00000295488:E542K;ENSP00000424539:E475K	ENSP00000295488:E542K	E	-	1	0	HELQ	84581520	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	5.374000	0.66167	2.783000	0.95769	0.655000	0.94253	GAG		0.313	HELQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252810.1	NM_133636		4	21	0	0	0	1	0	4	21				
ZBTB20	26137	broad.mit.edu	37	3	114069466	114069466	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr3:114069466G>C	ENST00000474710.1	-	4	1637	c.1459C>G	c.(1459-1461)Ctg>Gtg	p.L487V	ZBTB20_ENST00000464560.1_Missense_Mutation_p.L414V|ZBTB20_ENST00000471418.1_Missense_Mutation_p.L414V|ZBTB20_ENST00000357258.3_Missense_Mutation_p.L414V|ZBTB20-AS1_ENST00000467304.1_RNA|ZBTB20-AS1_ENST00000475939.1_RNA|ZBTB20_ENST00000481632.1_Missense_Mutation_p.L414V|ZBTB20_ENST00000462705.1_Missense_Mutation_p.L414V|ZBTB20_ENST00000393785.2_Missense_Mutation_p.L414V|ZBTB20-AS1_ENST00000496219.1_RNA	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	487						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GGCATCCTCAGGTTGCTGGTG	0.592																																					NSCLC(69;748 1344 9802 11203 30933)	ENST00000462705.1																			0				breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48						c.(1240-1242)Ctg>Gtg		zinc finger and BTB domain containing 20							126.0	75.0	92.0					3																	114069466		2203	4300	6503	SO:0001583	missense	26137				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:114069466G>C	AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13503	protein-coding gene	gene with protein product		606025	"""zinc finger protein 288"""	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.1459C>G	3.37:g.114069466G>C	ENSP00000419153:p.Leu487Val					ZBTB20_ENST00000481632.1_Missense_Mutation_p.L414V|ZBTB20_ENST00000471418.1_Missense_Mutation_p.L414V|ZBTB20_ENST00000474710.1_Missense_Mutation_p.L487V|ZBTB20_ENST00000464560.1_Missense_Mutation_p.L414V|ZBTB20_ENST00000357258.3_Missense_Mutation_p.L414V|ZBTB20_ENST00000393785.2_Missense_Mutation_p.L414V	p.L414V	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN		LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)	11	2061	-			487					Q63HP6|Q8N6R5|Q9Y410	Missense_Mutation	SNP	ENST00000474710.1	37	c.1240C>G	CCDS54626.1	.	.	.	.	.	.	.	.	.	.	G	13.86	2.362712	0.41902	.	.	ENSG00000181722	ENST00000462705;ENST00000393785;ENST00000481632;ENST00000471418;ENST00000474710;ENST00000357258;ENST00000464560	T;T;T;T;T;T;T	0.10477	2.9;2.9;2.9;2.9;2.87;2.9;2.9	5.57	2.57	0.30868	.	0.000000	0.64402	D	0.000002	T	0.08179	0.0204	N	0.24115	0.695	0.58432	D	0.999992	B	0.18968	0.032	B	0.20184	0.028	T	0.18053	-1.0349	10	0.87932	D	0	.	10.7251	0.46064	0.0807:0.0:0.7871:0.1323	.	487	Q9HC78	ZBT20_HUMAN	V	414;414;414;414;487;414;414	ENSP00000420324:L414V;ENSP00000377375:L414V;ENSP00000418092:L414V;ENSP00000419902:L414V;ENSP00000419153:L487V;ENSP00000349803:L414V;ENSP00000417307:L414V	ENSP00000349803:L414V	L	-	1	2	ZBTB20	115552156	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.404000	0.66344	0.190000	0.20209	0.557000	0.71058	CTG		0.592	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642		23	65	0	0	0	1	0	23	65				
RINT1	60561	broad.mit.edu	37	7	105195584	105195584	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr7:105195584G>C	ENST00000257700.2	+	11	1812	c.1581G>C	c.(1579-1581)gaG>gaC	p.E527D		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	527	RINT1/TIP20. {ECO:0000255|PROSITE- ProRule:PRU00717}.				G2 DNA damage checkpoint (GO:0031572)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TGAAAGAAGAGACTAGAGCTT	0.403																																						ENST00000257700.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1579-1581)gaG>gaC		RAD50 interactor 1							171.0	167.0	168.0					7																	105195584		2203	4300	6503	SO:0001583	missense	60561				cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding	g.chr7:105195584G>C	AF317622	CCDS34726.1	7q22.2	2007-05-03			ENSG00000135249	ENSG00000135249			21876	protein-coding gene	gene with protein product		610089				11096100, 15029241	Standard	NM_021930		Approved	FLJ11785, RINT-1	uc003vda.1	Q6NUQ1	OTTHUMG00000157400	ENST00000257700.2:c.1581G>C	7.37:g.105195584G>C	ENSP00000257700:p.Glu527Asp						p.E527D	NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN			11	1812	+			527			RINT1/TIP20.		Q75MG9|Q75MH0|Q96IW8|Q9H229|Q9HAD9	Missense_Mutation	SNP	ENST00000257700.2	37	c.1581G>C	CCDS34726.1	.	.	.	.	.	.	.	.	.	.	G	14.82	2.648439	0.47258	.	.	ENSG00000135249	ENST00000257700	T	0.31247	1.5	5.87	3.11	0.35812	.	0.045945	0.85682	D	0.000000	T	0.36441	0.0967	M	0.62723	1.935	0.51482	D	0.999928	B	0.34349	0.45	P	0.45406	0.479	T	0.07121	-1.0789	10	0.14656	T	0.56	-21.1104	10.5079	0.44845	0.2646:0.0:0.7354:0.0	.	527	Q6NUQ1	RINT1_HUMAN	D	527	ENSP00000257700:E527D	ENSP00000257700:E527D	E	+	3	2	RINT1	104982820	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.266000	0.58871	0.821000	0.34540	0.650000	0.86243	GAG		0.403	RINT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348686.1	NM_021930		29	96	0	0	0	1	0	29	96				
NCCRP1	342897	broad.mit.edu	37	19	39691350	39691350	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr19:39691350G>A	ENST00000339852.4	+	6	804	c.782G>A	c.(781-783)cGg>cAg	p.R261Q		NM_001001414.1	NP_001001414.1	Q6ZVX7	FBX50_HUMAN	non-specific cytotoxic cell receptor protein 1 homolog (zebrafish)	261	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.				positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	10						GGGCTGCGGCGGACACGGGTG	0.632																																					Melanoma(107;1207 1556 14956 29427 52130)	ENST00000339852.4																			0				kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	10						c.(781-783)cGg>cAg		non-specific cytotoxic cell receptor protein 1 homolog (zebrafish)							178.0	170.0	172.0					19																	39691350		2203	4300	6503	SO:0001583	missense	342897				protein catabolic process			g.chr19:39691350G>A	AK123941, BC067874	CCDS12529.1	19q13.2	2013-07-31	2008-11-19		ENSG00000188505	ENSG00000188505			33739	protein-coding gene	gene with protein product		615901					Standard	NM_001001414		Approved	LOC342897, NCCRP-1, FBXO50	uc002okq.1	Q6ZVX7		ENST00000339852.4:c.782G>A	19.37:g.39691350G>A	ENSP00000342137:p.Arg261Gln						p.R261Q	NM_001001414.1	NP_001001414.1	Q6ZVX7	NCRP1_HUMAN			6	804	+			261			FBA.		Q6NVV5	Missense_Mutation	SNP	ENST00000339852.4	37	c.782G>A	CCDS12529.1	.	.	.	.	.	.	.	.	.	.	G	14.29	2.490394	0.44249	.	.	ENSG00000188505	ENST00000339852	T	0.29655	1.56	4.96	3.91	0.45181	Galactose-binding domain-like (1);F-box associated (FBA) domain (2);	0.486350	0.21241	N	0.077801	T	0.23965	0.0580	L	0.45581	1.43	0.35047	D	0.760259	P	0.48294	0.908	B	0.36335	0.222	T	0.37842	-0.9688	10	0.45353	T	0.12	-24.0817	11.4656	0.50237	0.0899:0.0:0.9101:0.0	.	261	Q6ZVX7	NCRP1_HUMAN	Q	261	ENSP00000342137:R261Q	ENSP00000342137:R261Q	R	+	2	0	NCCRP1	44383190	0.997000	0.39634	0.940000	0.37924	0.053000	0.15095	3.904000	0.56325	1.091000	0.41335	0.484000	0.47621	CGG		0.632	NCCRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463829.1	NM_001001414		49	246	0	0	0	1	0	49	246				
MB21D2	151963	broad.mit.edu	37	3	192517140	192517140	+	Missense_Mutation	SNP	T	T	C	rs376782955		TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr3:192517140T>C	ENST00000392452.2	-	2	831	c.511A>G	c.(511-513)Atc>Gtc	p.I171V		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	171							protein complex binding (GO:0032403)			endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						GCACCATTGATGTGATCTACA	0.478																																						ENST00000392452.2																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						c.(511-513)Atc>Gtc		Mab-21 domain containing 2							90.0	91.0	90.0					3																	192517140		2203	4300	6503	SO:0001583	missense	151963							g.chr3:192517140T>C	AK056276	CCDS3302.2	3q28-q29	2011-02-23	2011-02-23	2011-02-23	ENSG00000180611	ENSG00000180611			30438	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 59"""	C3orf59		12477932	Standard	NM_178496		Approved		uc011bsp.2	Q8IYB1	OTTHUMG00000155768	ENST00000392452.2:c.511A>G	3.37:g.192517140T>C	ENSP00000376246:p.Ile171Val						p.I171V	NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN			2	831	-			171					Q86VD8	Missense_Mutation	SNP	ENST00000392452.2	37	c.511A>G	CCDS3302.2	.	.	.	.	.	.	.	.	.	.	T	0.033	-1.322239	0.01320	.	.	ENSG00000180611	ENST00000392452	T	0.42513	0.97	5.63	3.17	0.36434	.	0.275088	0.39985	N	0.001213	T	0.25494	0.0620	N	0.22421	0.69	0.36525	D	0.870395	B	0.02656	0.0	B	0.04013	0.001	T	0.13019	-1.0525	10	0.29301	T	0.29	.	7.9271	0.29880	0.0:0.0718:0.1364:0.7918	.	171	Q8IYB1	M21D2_HUMAN	V	171	ENSP00000376246:I171V	ENSP00000376246:I171V	I	-	1	0	MB21D2	193999834	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.208000	0.42797	0.934000	0.37316	0.533000	0.62120	ATC		0.478	MB21D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341543.1	NM_178496		27	61	0	0	0	1	0	27	61				
SLCO3A1	28232	broad.mit.edu	37	15	92647732	92647732	+	Silent	SNP	G	G	T			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr15:92647732G>T	ENST00000318445.6	+	4	1183	c.969G>T	c.(967-969)ctG>ctT	p.L323L	SLCO3A1_ENST00000555549.1_3'UTR|SLCO3A1_ENST00000424469.2_Silent_p.L323L	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	323					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)		Alprostadil(DB00770)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Iloprost(DB01088)|Methotrexate(DB00563)	GGCACCCCCTGGAGCCAGACA	0.612																																						ENST00000318445.6																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25						c.(967-969)ctG>ctT		solute carrier organic anion transporter family, member 3A1							37.0	35.0	36.0					15																	92647732		2198	4298	6496	SO:0001819	synonymous_variant	28232				sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity	g.chr15:92647732G>T	AB031050	CCDS10371.1, CCDS45354.1	15q26	2013-05-22	2003-11-25	2003-11-26	ENSG00000176463	ENSG00000176463		"""Solute carriers"""	10952	protein-coding gene	gene with protein product		612435	"""solute carrier family 21 (organic anion transporter), member 11"""	SLC21A11			Standard	NM_001145044		Approved	OATP-D, OATP3A1	uc002bqx.2	Q9UIG8	OTTHUMG00000149846	ENST00000318445.6:c.969G>T	15.37:g.92647732G>T						SLCO3A1_ENST00000424469.2_Silent_p.L323L|SLCO3A1_ENST00000555549.1_3'UTR	p.L323L	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0841)		4	1183	+	Lung NSC(78;0.0158)|all_lung(78;0.0255)		323					A8K4A7|B3KPY5|B3KUR7|C6G486|Q9BW73|Q9GZV2	Silent	SNP	ENST00000318445.6	37	c.969G>T	CCDS10371.1																																																																																				0.612	SLCO3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313529.1	NM_013272		18	43	1	0	1.87028e-06	1	1.93768e-06	18	43				
RAP1GAP	5909	broad.mit.edu	37	1	21943975	21943975	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr1:21943975G>A	ENST00000374765.4	-	7	315	c.115C>T	c.(115-117)Cga>Tga	p.R39*	RAP1GAP_ENST00000290101.4_Nonsense_Mutation_p.R103*|RAP1GAP_ENST00000374763.2_Nonsense_Mutation_p.R39*|RAP1GAP_ENST00000374757.3_5'UTR|RAP1GAP_ENST00000374761.2_Nonsense_Mutation_p.R70*|RAP1GAP_ENST00000542643.2_Nonsense_Mutation_p.R39*	NM_002885.2	NP_002876.2	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	39					GTP catabolic process (GO:0006184)|positive regulation of Rap GTPase activity (GO:0032854)|regulation of Ras GTPase activity (GO:0032318)|signal transduction (GO:0007165)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|protein homodimerization activity (GO:0042803)|Rap GTPase activator activity (GO:0046582)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		GGTCCTTCTCGCCCCAAGACC	0.627																																						ENST00000542643.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17						c.(115-117)Cga>Tga		RAP1 GTPase activating protein							72.0	63.0	66.0					1																	21943975		2199	4299	6498	SO:0001587	stop_gained	5909				regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding	g.chr1:21943975G>A	BC054490	CCDS218.1, CCDS53276.1, CCDS53277.1	1p36.1-p35	2009-09-14	2006-04-12	2006-04-12	ENSG00000076864	ENSG00000076864			9858	protein-coding gene	gene with protein product		600278	"""RAP1, GTPase activating protein 1"""	RAP1GA1		1904317	Standard	NM_001145657		Approved	KIAA0474, RAP1GAP1, RAP1GAPII	uc001bew.3	P47736	OTTHUMG00000007513	ENST00000374765.4:c.115C>T	1.37:g.21943975G>A	ENSP00000363897:p.Arg39*					RAP1GAP_ENST00000374763.2_Nonsense_Mutation_p.R39*|RAP1GAP_ENST00000374765.4_Nonsense_Mutation_p.R39*|RAP1GAP_ENST00000374757.3_5'UTR|RAP1GAP_ENST00000290101.4_Nonsense_Mutation_p.R103*|RAP1GAP_ENST00000374761.2_Nonsense_Mutation_p.R70*	p.R39*	NM_001145657.1	NP_001139129.1	P47736	RPGP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)	8	417	-		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	39					J3QSS6|O75062|Q5T3S9|Q5T3T4|Q7Z5S8|Q9UQ51	Nonsense_Mutation	SNP	ENST00000374765.4	37	c.115C>T	CCDS218.1	.	.	.	.	.	.	.	.	.	.	G	38	6.734507	0.97801	.	.	ENSG00000076864	ENST00000290101;ENST00000374761;ENST00000542643;ENST00000374765;ENST00000374763;ENST00000374758;ENST00000359708;ENST00000374757;ENST00000317967	.	.	.	4.65	4.65	0.58169	.	0.254945	0.30800	N	0.008844	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	-41.5336	10.6361	0.45565	0.0:0.0:0.8081:0.1919	.	.	.	.	X	103;70;39;39;70;39;103;181;39	.	ENSP00000290101:R103X	R	-	1	2	RAP1GAP	21816562	0.782000	0.28689	1.000000	0.80357	0.973000	0.67179	0.981000	0.29526	2.297000	0.77311	0.561000	0.74099	CGA		0.627	RAP1GAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000019759.2	NM_002885		7	11	0	0	0	1	0	7	11				
TRIM3	10612	broad.mit.edu	37	11	6478168	6478168	+	Nonsense_Mutation	SNP	G	G	T	rs146874288		TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr11:6478168G>T	ENST00000525074.1	-	6	1182	c.788C>A	c.(787-789)tCg>tAg	p.S263*	TRIM3_ENST00000345851.3_Nonsense_Mutation_p.S263*|TRIM3_ENST00000529058.1_5'UTR|TRIM3_ENST00000359518.3_Nonsense_Mutation_p.S263*|TRIM3_ENST00000536344.1_Nonsense_Mutation_p.S144*|TRIM3_ENST00000537602.1_Intron	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	263					nervous system development (GO:0007399)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)	protein C-terminus binding (GO:0008022)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCCGGGGCCGAGCCCAGGCG	0.642																																					Melanoma(6;5 510 1540 25169 29084)	ENST00000525074.1																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27						c.(787-789)tCg>tAg		tripartite motif containing 3							49.0	50.0	50.0					11																	6478168		2201	4296	6497	SO:0001587	stop_gained	10612				nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding	g.chr11:6478168G>T	AF045239	CCDS7764.1, CCDS58115.1	11p15.5	2013-01-09	2011-01-25	2001-11-23	ENSG00000110171	ENSG00000110171		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10064	protein-coding gene	gene with protein product	"""ring finger protein 22"", ""brain expressed ring finger"", ""tripartite motif protein TRIM3"""	605493	"""tripartite motif-containing 3"""	RNF22		10391919	Standard	NM_006458		Approved	HAC1, BERP, RNF97	uc009yfd.3	O75382	OTTHUMG00000133405	ENST00000525074.1:c.788C>A	11.37:g.6478168G>T	ENSP00000433102:p.Ser263*					TRIM3_ENST00000529058.1_5'UTR|TRIM3_ENST00000345851.3_Nonsense_Mutation_p.S263*|TRIM3_ENST00000536344.1_Nonsense_Mutation_p.S144*|TRIM3_ENST00000537602.1_Intron|TRIM3_ENST00000359518.3_Nonsense_Mutation_p.S263*	p.S263*	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)	6	1182	-		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	263					B7Z5E6|F5H2Q8|Q4V9L4|Q9C038|Q9C039	Nonsense_Mutation	SNP	ENST00000525074.1	37	c.788C>A	CCDS7764.1	.	.	.	.	.	.	.	.	.	.	G	36	5.915715	0.97099	.	.	ENSG00000110171	ENST00000530899;ENST00000525074;ENST00000545029;ENST00000345851;ENST00000336043;ENST00000359518;ENST00000536344	.	.	.	5.27	4.35	0.52113	.	0.305516	0.36519	N	0.002547	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.9257	14.039	0.64663	0.0:0.0:0.8477:0.1523	.	.	.	.	X	263;263;263;263;252;263;144	.	ENSP00000337094:S252X	S	-	2	0	TRIM3	6434744	1.000000	0.71417	0.981000	0.43875	0.995000	0.86356	5.311000	0.65786	1.210000	0.43336	0.563000	0.77884	TCG		0.642	TRIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384224.2	NM_006458		23	58	1	0	1.22574e-08	1	1.28145e-08	23	58				
PDS5A	23244	broad.mit.edu	37	4	39878721	39878721	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr4:39878721G>T	ENST00000303538.8	-	19	2584	c.2045C>A	c.(2044-2046)tCc>tAc	p.S682Y		NM_001100399.1	NP_001093869.1			PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)											breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						CTGTAACAAGGACTCATATGT	0.398																																						ENST00000303538.8																			0				breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						c.(2044-2046)tCc>tAc		PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)							162.0	145.0	150.0					4																	39878721		1873	4111	5984	SO:0001583	missense	23244				cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding	g.chr4:39878721G>T	AF294791	CCDS47045.1, CCDS54759.1	4p14	2007-06-20			ENSG00000121892	ENSG00000121892			29088	protein-coding gene	gene with protein product		613200				11076961, 15855230	Standard	NM_001100399		Approved	KIAA0648, PIG54, SCC-112	uc003guv.4	Q29RF7	OTTHUMG00000160582	ENST00000303538.8:c.2045C>A	4.37:g.39878721G>T	ENSP00000303427:p.Ser682Tyr						p.S682Y	NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN			19	2584	-			682						Missense_Mutation	SNP	ENST00000303538.8	37	c.2045C>A	CCDS47045.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.961689	0.92791	.	.	ENSG00000121892	ENST00000303538	T	0.65549	-0.16	5.04	5.04	0.67666	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.74129	0.3676	L	0.46157	1.445	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.72243	-0.4350	9	.	.	.	-5.57	18.7568	0.91836	0.0:0.0:1.0:0.0	.	682	Q29RF7	PDS5A_HUMAN	Y	682	ENSP00000303427:S682Y	.	S	-	2	0	PDS5A	39555116	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.811000	0.99226	2.501000	0.84356	0.591000	0.81541	TCC		0.398	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361287.1	NM_015200		27	117	1	0	2.24059e-21	1	2.50163e-21	27	117				
RNF123	63891	broad.mit.edu	37	3	49736208	49736208	+	Silent	SNP	C	C	T			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr3:49736208C>T	ENST00000327697.6	+	9	735	c.591C>T	c.(589-591)atC>atT	p.I197I	RNF123_ENST00000432042.1_Silent_p.I51I	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	197	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		CGGGGGACATCGTGAGCTGCC	0.612																																						ENST00000327697.6																			0				NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(589-591)atC>atT		ring finger protein 123							79.0	67.0	71.0					3																	49736208		2203	4300	6503	SO:0001819	synonymous_variant	63891					cytoplasm	ligase activity|protein binding|zinc ion binding	g.chr3:49736208C>T	AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"""RING-type (C3HC4) zinc fingers"""	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891	ENST00000327697.6:c.591C>T	3.37:g.49736208C>T						RNF123_ENST00000432042.1_Silent_p.I51I	p.I197I	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)	9	735	+			197			B30.2/SPRY.		A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Silent	SNP	ENST00000327697.6	37	c.591C>T	CCDS33758.1																																																																																				0.612	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	NM_022064		15	27	0	0	0	1	0	15	27				
SHROOM3	57619	broad.mit.edu	37	4	77662469	77662469	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr4:77662469G>A	ENST00000296043.6	+	5	4096	c.3143G>A	c.(3142-3144)cGt>cAt	p.R1048H		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1048					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			AATGGGATGCGTTTCCCGGAG	0.667																																						ENST00000296043.6																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60						c.(3142-3144)cGt>cAt		shroom family member 3							19.0	20.0	20.0					4																	77662469		2202	4299	6501	SO:0001583	missense	57619				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	g.chr4:77662469G>A	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.3143G>A	4.37:g.77662469G>A	ENSP00000296043:p.Arg1048His						p.R1048H	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		5	4096	+			1048					Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	ENST00000296043.6	37	c.3143G>A	CCDS3579.2	.	.	.	.	.	.	.	.	.	.	G	4.182	0.032372	0.08101	.	.	ENSG00000138771	ENST00000296043	T	0.45668	0.89	4.63	-0.629	0.11533	Apx/shroom, ASD1 (1);	1.531070	0.04347	N	0.355071	T	0.23926	0.0579	N	0.14661	0.345	0.09310	N	1	B;B;B	0.15141	0.012;0.005;0.012	B;B;B	0.08055	0.003;0.002;0.002	T	0.11372	-1.0590	10	0.23891	T	0.37	0.0055	4.5924	0.12313	0.3927:0.155:0.4523:0.0	.	872;1048;826	B4E244;Q8TF72;B3KY47	.;SHRM3_HUMAN;.	H	1048	ENSP00000296043:R1048H	ENSP00000296043:R1048H	R	+	2	0	SHROOM3	77881493	0.009000	0.17119	0.000000	0.03702	0.016000	0.09150	0.935000	0.28924	-0.597000	0.05813	0.563000	0.77884	CGT		0.667	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		5	28	0	0	0	1	0	5	28				
SIN3A	25942	broad.mit.edu	37	15	75702549	75702549	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr15:75702549C>T	ENST00000394947.3	-	7	1401	c.1087G>A	c.(1087-1089)Gct>Act	p.A363T	SIN3A_ENST00000360439.4_Missense_Mutation_p.A363T|SIN3A_ENST00000394949.4_Missense_Mutation_p.A363T	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						AAGAGACGAGCAACCTGGGCA	0.428																																						ENST00000394947.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						c.(1087-1089)Gct>Act		SIN3 transcription regulator family member A							104.0	103.0	103.0					15																	75702549		2197	4294	6491	SO:0001583	missense	25942				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding	g.chr15:75702549C>T	AK027559	CCDS10279.1	15q22.33	2013-08-21	2013-08-21		ENSG00000169375	ENSG00000169375			19353	protein-coding gene	gene with protein product		607776	"""SIN3 homolog A, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog A (yeast)"""			10773092, 7601471	Standard	NM_001145357		Approved	KIAA0700, DKFZP434K2235	uc002bai.3	Q96ST3	OTTHUMG00000142834	ENST00000394947.3:c.1087G>A	15.37:g.75702549C>T	ENSP00000378402:p.Ala363Thr					SIN3A_ENST00000360439.4_Missense_Mutation_p.A363T|SIN3A_ENST00000394949.4_Missense_Mutation_p.A363T	p.A363T	NM_001145358.1	NP_001138830.1	Q96ST3	SIN3A_HUMAN			7	1401	-			363			Interaction with REST (By similarity).|PAH 2.			Missense_Mutation	SNP	ENST00000394947.3	37	c.1087G>A	CCDS10279.1	.	.	.	.	.	.	.	.	.	.	C	36	5.643307	0.96704	.	.	ENSG00000169375	ENST00000394947;ENST00000394949;ENST00000360439	T;T;T	0.40476	1.03;1.03;1.03	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.60287	0.2257	L	0.58583	1.82	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.50491	-0.8822	10	0.18710	T	0.47	-15.628	18.6509	0.91430	0.0:1.0:0.0:0.0	.	363	Q96ST3	SIN3A_HUMAN	T	363	ENSP00000378402:A363T;ENSP00000378403:A363T;ENSP00000353622:A363T	ENSP00000353622:A363T	A	-	1	0	SIN3A	73489602	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.767000	0.85331	2.716000	0.92895	0.655000	0.94253	GCT		0.428	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286469.1	NM_015477		7	96	0	0	0	1	0	7	96				
HLA-E	3133	broad.mit.edu	37	6	30457340	30457340	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr6:30457340C>T	ENST00000376630.4	+	1	97	c.32C>T	c.(31-33)tCg>tTg	p.S11L		NM_005516.5	NP_005507.3	P13747	HLAE_HUMAN	major histocompatibility complex, class I, E	11					antigen processing and presentation of endogenous peptide antigen via MHC class Ib (GO:0002476)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of natural killer cell mediated immunity (GO:0002717)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protection from natural killer cell mediated cytotoxicity (GO:0042270)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	MHC class I protein binding (GO:0042288)|peptide antigen binding (GO:0042605)			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(2)|lung(1)|ovary(3)|skin(1)|urinary_tract(1)	18						TTACTCCTCTCGGAGGCCCTG	0.637																																						ENST00000376630.4																			0				breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(2)|lung(1)|ovary(3)|skin(1)|urinary_tract(1)	18						c.(31-33)tCg>tTg		major histocompatibility complex, class I, E							70.0	75.0	73.0					6																	30457340		2203	4300	6503	SO:0001583	missense	3133				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:30457340C>T	M20022	CCDS34379.1	6p21.3	2013-01-11			ENSG00000204592	ENSG00000204592		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4962	protein-coding gene	gene with protein product		143010				3131426	Standard	NM_005516		Approved		uc003nqg.3	P13747	OTTHUMG00000031155	ENST00000376630.4:c.32C>T	6.37:g.30457340C>T	ENSP00000365817:p.Ser11Leu						p.S11L	NM_005516.5	NP_005507.3	P13747	HLAE_HUMAN			1	97	+			11					Q30169|Q9BT83|Q9GIY7|Q9GIY8	Missense_Mutation	SNP	ENST00000376630.4	37	c.32C>T	CCDS34379.1	.	.	.	.	.	.	.	.	.	.	c	11.32	1.602779	0.28534	.	.	ENSG00000204592	ENST00000376630	T	0.00642	6.02	1.45	-0.991	0.10235	.	1.857350	0.04405	U	0.364992	T	0.00178	0.0005	N	0.11131	0.1	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.41431	-0.9509	10	0.72032	D	0.01	.	4.5026	0.11872	0.0:0.5822:0.0:0.4178	.	11	Q6DU44	.	L	11	ENSP00000365817:S11L	ENSP00000365817:S11L	S	+	2	0	HLA-E	30565319	0.000000	0.05858	0.001000	0.08648	0.014000	0.08584	-0.853000	0.04303	-0.251000	0.09542	0.297000	0.19635	TCG		0.637	HLA-E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076282.2	NM_005516		61	57	0	0	0	1	0	61	57				
PAPD5	64282	broad.mit.edu	37	16	50258846	50258846	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr16:50258846A>G	ENST00000561678.1	+	8	1252	c.1178A>G	c.(1177-1179)tAt>tGt	p.Y393C	PAPD5_ENST00000436909.3_Missense_Mutation_p.Y503C|PAPD5_ENST00000573002.1_3'UTR|PAPD5_ENST00000357464.3_Missense_Mutation_p.Y424C			Q8NDF8	PAPD5_HUMAN	PAP associated domain containing 5	424					histone mRNA catabolic process (GO:0071044)|mitotic nuclear division (GO:0007067)|mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|polynucleotide adenylyltransferase activity (GO:0004652)			endometrium(1)|kidney(1)|lung(2)	4		all_cancers(37;0.0452)		BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231)		GTTGCCACATATAGAGATTGG	0.378																																						ENST00000357464.3																			0				endometrium(1)|kidney(1)|lung(2)	4						c.(1270-1272)tAt>tGt		PAP associated domain containing 5							179.0	170.0	173.0					16																	50258846		1863	4107	5970	SO:0001583	missense	64282				cell division|DNA replication|histone mRNA catabolic process|mitosis	cytoplasm|nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding	g.chr16:50258846A>G	AF089897	CCDS54006.1	16q12.1	2010-11-18				ENSG00000121274			30758	protein-coding gene	gene with protein product	"""TUTase3"""	605540				10066793	Standard	NM_001040284		Approved	TRF4-2	uc010vgo.2	Q8NDF8		ENST00000561678.1:c.1178A>G	16.37:g.50258846A>G	ENSP00000455837:p.Tyr393Cys					PAPD5_ENST00000436909.3_Missense_Mutation_p.Y503C|PAPD5_ENST00000573002.1_3'UTR|PAPD5_ENST00000561678.1_Missense_Mutation_p.Y393C	p.Y424C			Q8NDF8	PAPD5_HUMAN		BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231)	10	1271	+		all_cancers(37;0.0452)	424					B4DV38|Q9NW67|Q9Y6C0	Missense_Mutation	SNP	ENST00000561678.1	37	c.1271A>G		.	.	.	.	.	.	.	.	.	.	A	15.11	2.735996	0.49045	.	.	ENSG00000121274	ENST00000436909;ENST00000357464	T;T	0.58060	0.36;0.41	6.07	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.69468	0.3114	M	0.68317	2.08	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.993;0.999	T	0.72010	-0.4419	10	0.87932	D	0	.	12.4043	0.55430	0.9344:0.0:0.0656:0.0	.	503;424	B4DV38;Q8NDF8	.;PAPD5_HUMAN	C	503;424	ENSP00000396995:Y503C;ENSP00000350054:Y424C	ENSP00000350054:Y424C	Y	+	2	0	PAPD5	48816347	1.000000	0.71417	0.079000	0.20413	0.446000	0.32137	5.941000	0.70195	1.108000	0.41662	0.477000	0.44152	TAT		0.378	PAPD5-002	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000423150.1	NM_022447		40	114	0	0	0	1	0	40	114				
AMD1	262	broad.mit.edu	37	6	111214770	111214770	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr6:111214770A>G	ENST00000368885.3	+	9	1292	c.956A>G	c.(955-957)aAt>aGt	p.N319S	AMD1_ENST00000368876.1_Missense_Mutation_p.N250S|AMD1_ENST00000368882.3_Missense_Mutation_p.N171S|AMD1_ENST00000368877.5_Missense_Mutation_p.N290S|AMD1_ENST00000451850.2_Missense_Mutation_p.N199S	NM_001634.4	NP_001625.2	P17707	DCAM_HUMAN	adenosylmethionine decarboxylase 1	319					cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|S-adenosylmethioninamine biosynthetic process (GO:0006557)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)|spermine biosynthetic process (GO:0006597)	cytosol (GO:0005829)	adenosylmethionine decarboxylase activity (GO:0004014)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	8		all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143)	S-Adenosylmethionine(DB00118)	AATGATTACAATTTTGTTTTT	0.393																																						ENST00000368885.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	8						c.(955-957)aAt>aGt		adenosylmethionine decarboxylase 1	S-Adenosylmethionine(DB00118)						85.0	77.0	80.0					6																	111214770		2203	4300	6503	SO:0001583	missense	262				spermidine biosynthetic process|spermine biosynthetic process	cytosol	adenosylmethionine decarboxylase activity	g.chr6:111214770A>G	M88006	CCDS5086.1, CCDS75504.1, CCDS75505.1	6q21	2014-05-13			ENSG00000123505	ENSG00000123505	4.1.1.50		457	protein-coding gene	gene with protein product		180980	"""S-adenosylmethionine decarboxylase 1"""				Standard	NM_001634		Approved	SAMDC	uc003puk.1	P17707	OTTHUMG00000015369	ENST00000368885.3:c.956A>G	6.37:g.111214770A>G	ENSP00000357880:p.Asn319Ser					AMD1_ENST00000368877.5_Missense_Mutation_p.N290S|AMD1_ENST00000451850.2_Missense_Mutation_p.N199S|AMD1_ENST00000368882.3_Missense_Mutation_p.N171S|AMD1_ENST00000368876.1_Missense_Mutation_p.N250S	p.N319S	NM_001634.4	NP_001625.2	P17707	DCAM_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143)	9	1292	+		all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209)	319					E1P5F7|Q5VXN4|Q5VXN6|Q9BWK4	Missense_Mutation	SNP	ENST00000368885.3	37	c.956A>G	CCDS5086.1	.	.	.	.	.	.	.	.	.	.	A	15.24	2.774377	0.49786	.	.	ENSG00000123505	ENST00000368885;ENST00000368882;ENST00000451850;ENST00000368877;ENST00000368876	.	.	.	5.88	5.88	0.94601	S-adenosylmethionine decarboxylase, core (2);	0.042413	0.85682	D	0.000000	T	0.23330	0.0564	N	0.21373	0.66	0.80722	D	1	B;B;B	0.28178	0.074;0.156;0.202	B;B;B	0.23716	0.048;0.013;0.031	T	0.17048	-1.0382	9	0.06494	T	0.89	.	16.2762	0.82644	1.0:0.0:0.0:0.0	.	199;290;319	B4DZ60;A6NNH3;P17707	.;.;DCAM_HUMAN	S	319;171;199;290;250	.	ENSP00000357870:N250S	N	+	2	0	AMD1	111321463	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.802000	0.91910	2.243000	0.73865	0.482000	0.46254	AAT		0.393	AMD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041816.1			19	62	0	0	0	1	0	19	62				
BRICD5	283870	broad.mit.edu	37	16	2259554	2259554	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr16:2259554C>A	ENST00000562360.1	-	5	591	c.592G>T	c.(592-594)Ggt>Tgt	p.G198C	BRICD5_ENST00000328540.3_Splice_Site_p.G198W|RP11-304L19.8_ENST00000561544.1_lincRNA			Q6PL45	BRID5_HUMAN	BRICHOS domain containing 5	198						integral component of membrane (GO:0016021)											CCTGACTCACCCTCTGCTCGC	0.701																																						ENST00000562360.1																			0											c.(592-594)Ggt>Tgt		BRICHOS domain containing 5							48.0	60.0	56.0					16																	2259554		2198	4297	6495	SO:0001583	missense	283870							g.chr16:2259554C>A	BC039154	CCDS10463.1	16p13.3	2012-10-10	2012-10-10	2012-10-10	ENSG00000182685	ENSG00000182685		"""BRICHOS domain containing"""	28309	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 79"""	C16orf79		12477932	Standard	NM_182563		Approved	MGC21830	uc002cpi.2	Q6PL45	OTTHUMG00000128831	ENST00000562360.1:c.592G>T	16.37:g.2259554C>A	ENSP00000455052:p.Gly198Cys					BRICD5_ENST00000328540.3_Splice_Site_p.G198_splice	p.G198C							5	591	-								C9J7K2|Q8IXU9	Missense_Mutation	SNP	ENST00000562360.1	37	c.592G>T	CCDS10463.1	.	.	.	.	.	.	.	.	.	.	c	15.26	2.782024	0.49891	.	.	ENSG00000182685	ENST00000328540	T	0.43688	0.94	5.95	4.01	0.46588	.	0.059137	0.64402	D	0.000003	T	0.63295	0.2499	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.64487	-0.6396	8	.	.	.	-9.4505	12.1994	0.54315	0.0:0.8598:0.0:0.1402	.	198	Q6PL45-2	.	W	198	ENSP00000332389:G198W	.	G	-	1	0	C16orf79	2199555	0.964000	0.33143	0.810000	0.32431	0.055000	0.15305	2.226000	0.42963	0.862000	0.35528	-0.119000	0.15052	GGG		0.701	BRICD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000435091.1	NM_182563		35	135	1	0	4.62619e-21	1	5.1155e-21	35	135				
LTBP1	4052	broad.mit.edu	37	2	33586550	33586550	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr2:33586550C>T	ENST00000404816.2	+	28	4591	c.4238C>T	c.(4237-4239)tCa>tTa	p.S1413L	LTBP1_ENST00000390003.4_Missense_Mutation_p.S1088L|LTBP1_ENST00000404525.1_Missense_Mutation_p.S1034L|LTBP1_ENST00000402934.1_Missense_Mutation_p.S1032L|LTBP1_ENST00000418533.2_Missense_Mutation_p.S1045L|LTBP1_ENST00000354476.3_Missense_Mutation_p.S1414L|LTBP1_ENST00000407925.1_Missense_Mutation_p.S1087L|LTBP1_ENST00000272273.5_Missense_Mutation_p.S311L			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1413					extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GCTGGAGAATCATCTTCTGAA	0.373																																						ENST00000404816.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108						c.(4237-4239)tCa>tTa		latent transforming growth factor beta binding protein 1							106.0	105.0	105.0					2																	33586550		2203	4300	6503	SO:0001583	missense	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33586550C>T		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.4238C>T	2.37:g.33586550C>T	ENSP00000386043:p.Ser1413Leu					LTBP1_ENST00000390003.4_Missense_Mutation_p.S1088L|LTBP1_ENST00000418533.2_Missense_Mutation_p.S1045L|LTBP1_ENST00000354476.3_Missense_Mutation_p.S1414L|LTBP1_ENST00000272273.5_Missense_Mutation_p.S311L|LTBP1_ENST00000402934.1_Missense_Mutation_p.S1032L|LTBP1_ENST00000404525.1_Missense_Mutation_p.S1034L|LTBP1_ENST00000407925.1_Missense_Mutation_p.S1087L	p.S1413L			Q14766	LTBP1_HUMAN			28	4591	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	1413					A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	ENST00000404816.2	37	c.4238C>T	CCDS33177.2	.	.	.	.	.	.	.	.	.	.	c	14.39	2.519984	0.44866	.	.	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925;ENST00000272273;ENST00000422669	T;T;T;T;T;T;T;D;D	0.84370	-1.41;-1.4;-1.35;-1.29;-1.33;-1.31;-1.31;-1.84;-1.52	5.35	5.35	0.76521	.	.	.	.	.	D	0.87951	0.6307	M	0.78223	2.4	0.44454	D	0.997383	B;B;P;B;B;B;B	0.36753	0.0;0.038;0.568;0.008;0.001;0.261;0.063	B;B;B;B;B;B;B	0.40009	0.004;0.021;0.168;0.012;0.009;0.316;0.046	D	0.88952	0.3387	9	0.72032	D	0.01	.	19.4305	0.94762	0.0:1.0:0.0:0.0	.	311;1413;1045;1034;1087;1088;1414	E7EUU6;Q14766;E7EV71;Q14766-3;Q14766-2;Q14766-5;Q14766-4	.;LTBP1_HUMAN;.;.;.;.;.	L	1413;1414;1088;1045;1032;1034;1087;311;249	ENSP00000386043:S1413L;ENSP00000346467:S1414L;ENSP00000374653:S1088L;ENSP00000393057:S1045L;ENSP00000384373:S1032L;ENSP00000385359:S1034L;ENSP00000384091:S1087L;ENSP00000272273:S311L;ENSP00000395211:S249L	ENSP00000272273:S311L	S	+	2	0	LTBP1	33440054	0.178000	0.23122	0.988000	0.46212	0.053000	0.15095	2.998000	0.49465	2.646000	0.89796	0.655000	0.94253	TCA		0.373	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		5	61	0	0	0	1	0	5	61				
EIF2AK3	9451	broad.mit.edu	37	2	88890056	88890056	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr2:88890056T>C	ENST00000303236.3	-	6	1371	c.1070A>G	c.(1069-1071)gAt>gGt	p.D357G	EIF2AK3_ENST00000419748.1_Missense_Mutation_p.D206G	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	357					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|bone mineralization (GO:0030282)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|chondrocyte development (GO:0002063)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum organization (GO:0007029)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|fat cell differentiation (GO:0045444)|insulin secretion (GO:0030073)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of myelination (GO:0031642)|negative regulation of translation (GO:0017148)|negative regulation of translational initiation in response to stress (GO:0032057)|ossification (GO:0001503)|positive regulation of protein binding (GO:0032092)|positive regulation of signal transduction (GO:0009967)|protein autophosphorylation (GO:0046777)|protein homooligomerization (GO:0051260)|protein phosphorylation (GO:0006468)|regulation of fatty acid metabolic process (GO:0019217)|response to endoplasmic reticulum stress (GO:0034976)|skeletal system development (GO:0001501)|SREBP signaling pathway (GO:0032933)|translation (GO:0006412)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)			ovary(3)	3						ACTTGTATCATCAAAAAGACT	0.358																																					GBM(138;671 1851 16235 39058 45249)	ENST00000303236.3																			0				ovary(3)	3						c.(1069-1071)gAt>gGt		eukaryotic translation initiation factor 2-alpha kinase 3							85.0	88.0	87.0					2																	88890056		2203	4300	6503	SO:0001583	missense	9451				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding	g.chr2:88890056T>C	AF110146	CCDS33241.1	2p12	2008-05-21			ENSG00000172071	ENSG00000172071			3255	protein-coding gene	gene with protein product		604032				10026192, 10575235	Standard	NM_004836		Approved	PEK, PERK	uc002stc.4	Q9NZJ5	OTTHUMG00000155046	ENST00000303236.3:c.1070A>G	2.37:g.88890056T>C	ENSP00000307235:p.Asp357Gly					EIF2AK3_ENST00000419748.1_Missense_Mutation_p.D206G	p.D357G	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN			6	1371	-			357					A0AVH1|A0AVH2|B2RCU9|O95846|Q53QY0|Q53SB1	Missense_Mutation	SNP	ENST00000303236.3	37	c.1070A>G	CCDS33241.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.563528	0.86335	.	.	ENSG00000172071	ENST00000419748;ENST00000303236;ENST00000535951;ENST00000415570	T;T;T	0.76448	-0.89;-0.88;-1.02	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	D	0.83866	0.5347	M	0.69358	2.11	0.58432	D	0.999996	D	0.64830	0.994	P	0.55260	0.772	D	0.84243	0.0473	10	0.46703	T	0.11	-30.6924	16.4718	0.84113	0.0:0.0:0.0:1.0	.	357	Q9NZJ5	E2AK3_HUMAN	G	206;357;206;236	ENSP00000408325:D206G;ENSP00000307235:D357G;ENSP00000412076:D236G	ENSP00000307235:D357G	D	-	2	0	EIF2AK3	88671171	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.463000	0.80869	2.289000	0.77006	0.528000	0.53228	GAT		0.358	EIF2AK3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000338233.2	NM_004836		7	39	0	0	0	1	0	7	39				
GPR45	11250	broad.mit.edu	37	2	105858933	105858933	+	Silent	SNP	G	G	A	rs376637446		TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr2:105858933G>A	ENST00000258456.1	+	1	734	c.618G>A	c.(616-618)gcG>gcA	p.A206A		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	206						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						TGTTCTTCGCGCCCTTTGGCG	0.677																																						ENST00000258456.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						c.(616-618)gcG>gcA		G protein-coupled receptor 45							44.0	42.0	42.0					2																	105858933		2203	4300	6503	SO:0001819	synonymous_variant	11250					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr2:105858933G>A	AF118266	CCDS2066.1	2q11.1-q12	2012-08-21			ENSG00000135973	ENSG00000135973		"""GPCR / Class A : Orphans"""	4503	protein-coding gene	gene with protein product		604838				10036181	Standard	NM_007227		Approved	PSP24, PSP24A	uc002tco.1	Q9Y5Y3	OTTHUMG00000130805	ENST00000258456.1:c.618G>A	2.37:g.105858933G>A							p.A206A	NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN			1	734	+			206					Q6NWS4|Q6NXU6	Silent	SNP	ENST00000258456.1	37	c.618G>A	CCDS2066.1																																																																																				0.677	GPR45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253348.1	NM_007227		12	20	0	0	0	1	0	12	20				
SP110	3431	broad.mit.edu	37	2	231042314	231042314	+	Silent	SNP	G	G	A			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr2:231042314G>A	ENST00000358662.4	-	14	1608	c.1530C>T	c.(1528-1530)aaC>aaT	p.N510N	SP110_ENST00000258382.5_Silent_p.N510N|SP110_ENST00000540870.1_Silent_p.N516N|SP110_ENST00000338556.3_Silent_p.N212N|SP110_ENST00000392048.3_Silent_p.N508N|SP110_ENST00000258381.6_Silent_p.N510N	NM_004509.3	NP_004500	Q9HB58	SP110_HUMAN	SP110 nuclear body protein	510	SAND. {ECO:0000255|PROSITE- ProRule:PRU00185}.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		AGTTCTTTGCGTTCCTTCCTT	0.423																																						ENST00000258381.6																			0				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1528-1530)aaC>aaT		SP110 nuclear body protein							332.0	311.0	318.0					2																	231042314		2203	4300	6503	SO:0001819	synonymous_variant	3431				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding	g.chr2:231042314G>A	L22343	CCDS2474.1, CCDS2475.1, CCDS2476.1, CCDS54435.1	2q37.1	2014-09-17	2001-12-19	2001-12-20	ENSG00000135899	ENSG00000135899			5401	protein-coding gene	gene with protein product		604457	"""interferon-induced protein 41, 30kD"""	IFI41, IFI75		7693701, 10388521	Standard	NM_080424		Approved		uc002vqg.3	Q9HB58	OTTHUMG00000133204	ENST00000358662.4:c.1530C>T	2.37:g.231042314G>A						SP110_ENST00000358662.4_Silent_p.N510N|SP110_ENST00000540870.1_Silent_p.N516N|SP110_ENST00000338556.3_Silent_p.N212N|SP110_ENST00000392048.3_Silent_p.N508N|SP110_ENST00000258382.5_Silent_p.N510N	p.N510N	NM_080424.2	NP_536349.2	Q9HB58	SP110_HUMAN		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)	14	1607	-		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)	510			SAND.		B4DVI4|F5H1M1|Q14976|Q14977|Q53TG2|Q8WUZ6|Q9HCT8	Silent	SNP	ENST00000358662.4	37	c.1530C>T	CCDS2474.1																																																																																				0.423	SP110-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000332414.1	NM_080424		65	217	0	0	0	1	0	65	217				
CRHR1	1394	broad.mit.edu	37	17	43906597	43906597	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr17:43906597A>C	ENST00000398285.3	+	5	344	c.344A>C	c.(343-345)cAc>cCc	p.H115P	CRHR1_ENST00000314537.5_Missense_Mutation_p.H115P|CRHR1_ENST00000352855.5_Missense_Mutation_p.H75P|CRHR1_ENST00000577353.1_Missense_Mutation_p.H115P|CRHR1_ENST00000293493.7_5'UTR|CRHR1_ENST00000339069.5_Missense_Mutation_p.H14P	NM_001145146.1	NP_001138618.1	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	115					activation of adenylate cyclase activity (GO:0007190)|adrenal gland development (GO:0030325)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|behavioral response to pain (GO:0048266)|cellular response to corticotropin-releasing hormone stimulus (GO:0071376)|corticotropin secretion (GO:0051458)|epithelial cell differentiation (GO:0030855)|fear response (GO:0042596)|female pregnancy (GO:0007565)|general adaptation syndrome, behavioral process (GO:0051867)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neuron death (GO:1901215)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neuropeptide signaling pathway (GO:0007218)|parturition (GO:0007567)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mast cell degranulation (GO:0043306)|regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010578)|regulation of corticosterone secretion (GO:2000852)|response to hypoxia (GO:0001666)|response to immobilization stress (GO:0035902)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|vesicle (GO:0031982)	corticotrophin-releasing factor receptor activity (GO:0015056)|corticotropin-releasing hormone binding (GO:0051424)|corticotropin-releasing hormone receptor activity (GO:0043404)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		AGCAAGGTGCACTACCATGTC	0.577																																					Ovarian(110;57 1568 10207 38216 49865)	ENST00000314537.5																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24						c.(343-345)cAc>cCc		corticotropin releasing hormone receptor 1							80.0	87.0	85.0					17																	43906597		2112	4213	6325	SO:0001583	missense	1394				female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding	g.chr17:43906597A>C	L23332	CCDS42350.1, CCDS45712.1, CCDS45713.1, CCDS45714.1	17q12-q22	2012-08-14			ENSG00000120088	ENSG00000120088		"""GPCR / Class B : Corticotropin-releasing factor receptors"""	2357	protein-coding gene	gene with protein product	"""corticotropin-releasing factor receptor"""	122561		CRHR		7590738	Standard	NM_004382		Approved	CRF-R, CRF1	uc010dap.3	P34998		ENST00000398285.3:c.344A>C	17.37:g.43906597A>C	ENSP00000381333:p.His115Pro					CRHR1_ENST00000577353.1_Missense_Mutation_p.H115P|CRHR1_ENST00000293493.7_5'UTR|CRHR1_ENST00000339069.5_Missense_Mutation_p.H14P|CRHR1_ENST00000398285.3_Missense_Mutation_p.H115P|CRHR1_ENST00000352855.5_Missense_Mutation_p.H75P	p.H115P	NM_001145147.1|NM_001145148.1|NM_004382.4	NP_001138619.1|NP_001138620.1|NP_004373.2	P34998	CRFR1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.161)	5	569	+	Colorectal(2;0.0416)		115					B4DIE9|Q13008|Q4QRJ1|Q9UK64	Missense_Mutation	SNP	ENST00000398285.3	37	c.344A>C	CCDS45712.1	.	.	.	.	.	.	.	.	.	.	A	14.25	2.480424	0.44044	.	.	ENSG00000120088	ENST00000339069;ENST00000398285;ENST00000314537;ENST00000347197;ENST00000352855	T;T;T;T;T	0.69685	0.98;0.99;1.23;-0.42;1.23	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.75525	0.3861	L	0.48362	1.52	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.997;0.979;0.999;0.998;0.997;0.997	T	0.74269	-0.3720	10	0.36615	T	0.2	.	13.4481	0.61153	1.0:0.0:0.0:0.0	.	115;115;14;14;75;115	P34998-4;P34998;B3TIK8;B4DMR5;P34998-3;P34998-2	.;CRFR1_HUMAN;.;.;.;.	P	14;115;115;115;75	ENSP00000340522:H14P;ENSP00000381333:H115P;ENSP00000326060:H115P;ENSP00000239167:H115P;ENSP00000344068:H75P	ENSP00000326060:H115P	H	+	2	0	CRHR1	41262378	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.339000	0.96797	2.072000	0.62099	0.459000	0.35465	CAC		0.577	CRHR1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000441241.3			5	20	0	0	0	1	0	5	20				
CCBL1	883	broad.mit.edu	37	9	131600355	131600355	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr9:131600355C>T	ENST00000302586.3	-	5	575	c.413G>A	c.(412-414)cGt>cAt	p.R138H	CCBL1_ENST00000320665.6_Missense_Mutation_p.R88H|CCBL1_ENST00000436267.2_Missense_Mutation_p.R232H|CCBL1_ENST00000483599.1_5'UTR	NM_001122671.1|NM_004059.4	NP_001116143.1|NP_004050.3	Q16773	KAT1_HUMAN	cysteine conjugate-beta lyase, cytoplasmic	138					cellular amino acid biosynthetic process (GO:0008652)|cellular modified amino acid metabolic process (GO:0006575)|cellular nitrogen compound metabolic process (GO:0034641)|kynurenine metabolic process (GO:0070189)|L-kynurenine catabolic process (GO:0097053)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-S-conjugate beta-lyase activity (GO:0047804)|glutamine-phenylpyruvate transaminase activity (GO:0047316)|kynurenine-oxoglutarate transaminase activity (GO:0016212)|L-glutamine:pyruvate aminotransferase activity (GO:0047945)|L-phenylalanine-oxaloacetate transaminase activity (GO:0036141)|L-phenylalanine:pyruvate aminotransferase activity (GO:0047312)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)	18					L-Glutamine(DB00130)	AAACACAGGACGACCCCCTGC	0.542																																						ENST00000436267.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)	18						c.(694-696)cGt>cAt		cysteine conjugate-beta lyase, cytoplasmic	L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114)						191.0	203.0	199.0					9																	131600355		2172	4266	6438	SO:0001583	missense	883				kynurenine metabolic process|L-phenylalanine catabolic process|tryptophan catabolic process	cytosol|nucleus	1-aminocyclopropane-1-carboxylate synthase activity|cysteine-S-conjugate beta-lyase activity|glutamine-phenylpyruvate transaminase activity|kynurenine-oxoglutarate transaminase activity|L-glutamine:pyruvate aminotransferase activity|L-phenylalanine:pyruvate aminotransferase activity|protein homodimerization activity|pyridoxal phosphate binding	g.chr9:131600355C>T	Y17448	CCDS43884.1, CCDS48038.1, CCDS75915.1	9q34.11	2008-03-11	2008-03-11		ENSG00000171097	ENSG00000171097	2.6.1.64		1564	protein-coding gene	gene with protein product	"""glutamine transaminase K"", ""kyneurenine aminotransferase"""	600547	"""cysteine conjugate-beta lyase; cytoplasmic (glutamine transaminase K, kyneurenine aminotransferase)"""			7883047	Standard	NM_001122671		Approved	KATI, GTK	uc004bwh.3	Q16773	OTTHUMG00000020767	ENST00000302586.3:c.413G>A	9.37:g.131600355C>T	ENSP00000302227:p.Arg138His					CCBL1_ENST00000302586.3_Missense_Mutation_p.R138H|CCBL1_ENST00000483599.1_5'UTR|CCBL1_ENST00000320665.6_Missense_Mutation_p.R88H	p.R232H			Q16773	KAT1_HUMAN			7	844	-			138					Q5T275|Q8N191	Missense_Mutation	SNP	ENST00000302586.3	37	c.695G>A	CCDS43884.1	.	.	.	.	.	.	.	.	.	.	c	10.48	1.360996	0.24684	.	.	ENSG00000171097	ENST00000302586;ENST00000320665;ENST00000436267;ENST00000451800;ENST00000416084	D;D;D;D;D	0.90620	-2.7;-2.7;-2.7;-2.7;-2.7	5.13	2.21	0.28008	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.869671	0.10113	N	0.714442	T	0.81870	0.4914	L	0.28115	0.83	0.09310	N	1	B;B;B;B;B	0.13145	0.006;0.002;0.007;0.002;0.001	B;B;B;B;B	0.08055	0.003;0.001;0.002;0.001;0.001	T	0.67745	-0.5591	10	0.35671	T	0.21	-28.4772	4.1098	0.10053	0.0:0.4644:0.1666:0.369	.	232;138;88;138;138	B7Z4W5;A8K563;Q16773-2;Q16773;Q5T278	.;.;.;KAT1_HUMAN;.	H	138;88;232;138;138	ENSP00000302227:R138H;ENSP00000317342:R88H;ENSP00000399415:R232H;ENSP00000390377:R138H;ENSP00000412402:R138H	ENSP00000302227:R138H	R	-	2	0	CCBL1	130640176	0.000000	0.05858	0.737000	0.30932	0.679000	0.39708	0.153000	0.16323	0.522000	0.28464	-0.119000	0.15052	CGT		0.542	CCBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054521.2			57	173	0	0	0	1	0	57	173				
SNHG14	104472715	broad.mit.edu	37	15	25436634	25436634	+	RNA	SNP	C	C	T			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr15:25436634C>T	ENST00000424208.1	+	0	1092				SNHG14_ENST00000363358.1_RNA|SNHG14_ENST00000414175.1_RNA|SNHG14_ENST00000456576.1_RNA|SNORD115-11_ENST00000363616.1_RNA|SNORD115-12_ENST00000362583.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		AATAGGATTACGCTGAGGCCC	0.512																																						ENST00000424208.1																			0																				405.0	423.0	418.0					15																	25436634		876	1991	2867			104472715							g.chr15:25436634C>T			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25436634C>T						SNHG14_ENST00000414175.1_RNA|SNORD115-12_ENST00000362583.1_RNA		NR_003305.1						0	1092	+									RNA	SNP	ENST00000424208.1	37																																																																																						0.512	SNHG14-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126729.2			8	445	0	0	0	1	0	8	445				
SERPINA10	51156	broad.mit.edu	37	14	94750313	94750313	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr14:94750313T>C	ENST00000393096.1	-	5	1789	c.1324A>G	c.(1324-1326)Act>Gct	p.T442A	SERPINA10_ENST00000554173.1_Missense_Mutation_p.T442A|SERPINA10_ENST00000261994.4_Missense_Mutation_p.T442A|SERPINA10_ENST00000554723.1_Missense_Mutation_p.T482A	NM_016186.2	NP_057270.1	Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	442					blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		TATAGGAGAGTCGGATTCACC	0.473																																						ENST00000554723.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33						c.(1444-1446)Act>Gct		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10							93.0	89.0	90.0					14																	94750313		2203	4300	6503	SO:0001583	missense	51156				regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr14:94750313T>C	AF181467	CCDS9923.1	14q32.13	2014-02-18	2005-08-18		ENSG00000140093	ENSG00000140093		"""Serine (or cysteine) peptidase inhibitors"""	15996	protein-coding gene	gene with protein product		605271	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10"""			10460162, 9689066, 24172014	Standard	NM_016186		Approved	PZI, ZPI	uc001yct.3	Q9UK55	OTTHUMG00000171345	ENST00000393096.1:c.1324A>G	14.37:g.94750313T>C	ENSP00000376809:p.Thr442Ala					SERPINA10_ENST00000554173.1_Missense_Mutation_p.T442A|SERPINA10_ENST00000393096.1_Missense_Mutation_p.T442A|SERPINA10_ENST00000261994.4_Missense_Mutation_p.T442A	p.T482A			Q9UK55	ZPI_HUMAN		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	5	1862	-		all_cancers(154;0.105)	442					A5Z2A5|Q6UWX9|Q86U20	Missense_Mutation	SNP	ENST00000393096.1	37	c.1444A>G	CCDS9923.1	.	.	.	.	.	.	.	.	.	.	T	12.91	2.080499	0.36662	.	.	ENSG00000140093	ENST00000554723;ENST00000393096;ENST00000261994;ENST00000554173	D;D;D;D	0.85702	-2.02;-2.0;-2.0;-2.0	5.14	-0.42	0.12336	.	0.323197	0.25261	N	0.031949	T	0.73345	0.3575	L	0.49571	1.57	0.09310	N	0.99999	P	0.44090	0.826	B	0.33392	0.163	T	0.67019	-0.5776	10	0.87932	D	0	.	5.8788	0.18844	0.1376:0.222:0.0:0.6404	.	442	Q9UK55	ZPI_HUMAN	A	482;442;442;442	ENSP00000450896:T482A;ENSP00000376809:T442A;ENSP00000261994:T442A;ENSP00000450971:T442A	ENSP00000261994:T442A	T	-	1	0	SERPINA10	93820066	0.412000	0.25392	0.000000	0.03702	0.007000	0.05969	0.685000	0.25378	0.014000	0.14944	0.455000	0.32223	ACT		0.473	SERPINA10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413061.1	NM_016186		4	45	0	0	0	1	0	4	45				
ZGRF1	55345	broad.mit.edu	37	4	113524756	113524756	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr4:113524756T>C	ENST00000505019.1	-	10	3025	c.2900A>G	c.(2899-2901)gAt>gGt	p.D967G	C4orf21_ENST00000309071.5_Missense_Mutation_p.D967G	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		967						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		CTCAGTGCTATCTGGAAACTG	0.408																																						ENST00000505019.1																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(2899-2901)gAt>gGt		chromosome 4 open reading frame 21							201.0	162.0	176.0					4																	113524756		2203	4300	6503	SO:0001583	missense	55345							g.chr4:113524756T>C																												ENST00000505019.1:c.2900A>G	4.37:g.113524756T>C	ENSP00000424737:p.Asp967Gly					C4orf21_ENST00000309071.5_Missense_Mutation_p.D967G	p.D967G	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000676)	10	3025	-		Ovarian(17;0.156)	967					B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Missense_Mutation	SNP	ENST00000505019.1	37	c.2900A>G		.	.	.	.	.	.	.	.	.	.	T	9.742	1.165057	0.21538	.	.	ENSG00000138658	ENST00000505019;ENST00000309071	D;T	0.85339	-1.97;1.4	5.38	-1.32	0.09201	.	0.760646	0.11729	N	0.535151	T	0.77831	0.4189	L	0.53249	1.67	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.002;0.003	T	0.65685	-0.6108	10	0.87932	D	0	0.0336	4.294	0.10892	0.1472:0.3321:0.0:0.5206	.	967;967	Q86YA3;G5EA02	CD021_HUMAN;.	G	967	ENSP00000424737:D967G;ENSP00000309095:D967G	ENSP00000309095:D967G	D	-	2	0	C4orf21	113744205	0.001000	0.12720	0.000000	0.03702	0.075000	0.17131	-0.005000	0.12855	-0.459000	0.07013	0.454000	0.30748	GAT		0.408	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1			19	46	0	0	0	1	0	19	46				
GGT1	2678	broad.mit.edu	37	22	25016930	25016930	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr22:25016930C>A	ENST00000400382.1	+	9	1381	c.626C>A	c.(625-627)aCc>aAc	p.T209N	GGT1_ENST00000248923.4_Missense_Mutation_p.T209N|GGT1_ENST00000406383.2_Missense_Mutation_p.T209N|GGT1_ENST00000400383.1_Missense_Mutation_p.T209N|GGT1_ENST00000466310.1_Intron|GGT1_ENST00000400380.1_Missense_Mutation_p.T209N			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	209					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|cysteine biosynthetic process (GO:0019344)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione catabolic process (GO:0006751)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|regulation of immune system process (GO:0002682)|regulation of inflammatory response (GO:0050727)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|xenobiotic metabolic process (GO:0006805)|zymogen activation (GO:0031638)	anchored component of external side of plasma membrane (GO:0031362)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	GAGAGACTGACCCTGCCGCAG	0.632																																						ENST00000400382.1																			0				breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40						c.(625-627)aCc>aAc		gamma-glutamyltransferase 1	Glutathione(DB00143)						23.0	25.0	24.0					22																	25016930		2023	4173	6196	SO:0001583	missense	2678				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding	g.chr22:25016930C>A	M24903	CCDS42992.1	22q11.23	2008-08-15			ENSG00000100031	ENSG00000100031	2.3.2.2	"""CD molecules"", ""Gamma-glutamyltransferases"""	4250	protein-coding gene	gene with protein product		612346		GGT		8104871, 18357469	Standard	NM_001288833		Approved	D22S672, D22S732, CD224	uc003aan.1	P19440	OTTHUMG00000030859	ENST00000400382.1:c.626C>A	22.37:g.25016930C>A	ENSP00000383232:p.Thr209Asn					GGT1_ENST00000406383.2_Missense_Mutation_p.T209N|GGT1_ENST00000466310.1_Intron|GGT1_ENST00000248923.4_Missense_Mutation_p.T209N|GGT1_ENST00000400380.1_Missense_Mutation_p.T209N|GGT1_ENST00000400383.1_Missense_Mutation_p.T209N	p.T209N			P19440	GGT1_HUMAN			9	1381	+			209					Q08247|Q14404|Q8TBS1|Q9UMK1	Missense_Mutation	SNP	ENST00000400382.1	37	c.626C>A	CCDS42992.1	.	.	.	.	.	.	.	.	.	.	.	12.76	2.034805	0.35893	.	.	ENSG00000100031	ENST00000248923;ENST00000412658;ENST00000400382;ENST00000400383;ENST00000400380;ENST00000406383	T;T;T;T;T;T	0.06849	3.25;3.25;3.25;3.25;3.25;3.25	3.94	-2.66	0.06077	.	0.290535	0.30269	U	0.010002	T	0.06416	0.0165	M	0.67700	2.07	0.22880	N	0.998619	B	0.27594	0.182	B	0.23018	0.043	T	0.25950	-1.0117	10	0.42905	T	0.14	-51.0558	0.3944	0.00415	0.292:0.2409:0.1231:0.344	.	209	P19440	GGT1_HUMAN	N	209	ENSP00000248923:T209N;ENSP00000393537:T209N;ENSP00000383232:T209N;ENSP00000383233:T209N;ENSP00000383231:T209N;ENSP00000385975:T209N	ENSP00000248923:T209N	T	+	2	0	GGT1	23346930	0.001000	0.12720	0.422000	0.26621	0.451000	0.32288	-0.124000	0.10595	-0.032000	0.13758	0.555000	0.69702	ACC		0.632	GGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250797.1	NM_013430		9	17	1	0	5.16669e-11	1	5.50156e-11	9	17				
H1FX	8971	broad.mit.edu	37	3	129034308	129034308	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr3:129034308C>G	ENST00000333762.4	-	1	812	c.438G>C	c.(436-438)aaG>aaC	p.K146N	H1FX-AS1_ENST00000537780.1_RNA|H1FX-AS1_ENST00000433902.2_RNA|H1FX-AS1_ENST00000511998.1_RNA|H1FX-AS1_ENST00000383461.2_RNA|H1FX-AS1_ENST00000502789.2_RNA	NM_006026.3	NP_006017.1	Q92522	H1X_HUMAN	H1 histone family, member X	146					nucleosome assembly (GO:0006334)	nucleolus (GO:0005730)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			kidney(1)|ovary(1)|urinary_tract(2)	4						ccggggcTGCCTTCTTCGCTT	0.761																																						ENST00000333762.4																			0				kidney(1)|ovary(1)|urinary_tract(2)	4						c.(436-438)aaG>aaC		H1 histone family, member X							3.0	4.0	4.0					3																	129034308		1439	3074	4513	SO:0001583	missense	8971				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr3:129034308C>G	D64142	CCDS3057.1	3q21.3	2011-08-16			ENSG00000184897	ENSG00000184897		"""Histones / Replication-independent"""	4722	protein-coding gene	gene with protein product		602785				8964515, 9439656	Standard	NM_006026		Approved	MGC15959, MGC8350, H1X	uc003elx.3	Q92522	OTTHUMG00000159450	ENST00000333762.4:c.438G>C	3.37:g.129034308C>G	ENSP00000329662:p.Lys146Asn					H1FX-AS1_ENST00000511998.1_RNA	p.K146N	NM_006026.3	NP_006017.1	Q92522	H1X_HUMAN			1	812	-			146						Missense_Mutation	SNP	ENST00000333762.4	37	c.438G>C	CCDS3057.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.343781	0.41498	.	.	ENSG00000184897	ENST00000333762	T	0.09163	3.01	4.17	3.3	0.37823	.	0.452161	0.20460	U	0.091916	T	0.06781	0.0173	N	0.14661	0.345	0.30454	N	0.774992	B	0.23058	0.079	B	0.21546	0.035	T	0.11155	-1.0599	10	0.45353	T	0.12	.	9.6251	0.39746	0.0:0.8932:0.0:0.1068	.	146	Q92522	H1X_HUMAN	N	146	ENSP00000329662:K146N	ENSP00000329662:K146N	K	-	3	2	H1FX	130516998	1.000000	0.71417	0.796000	0.32109	0.064000	0.16182	1.266000	0.33039	0.731000	0.32448	0.313000	0.20887	AAG		0.761	H1FX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355455.2	NM_006026		3	5	0	0	0	1	0	3	5				
IL21R	50615	broad.mit.edu	37	16	27455956	27455956	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr16:27455956C>T	ENST00000337929.3	+	6	1074	c.601C>T	c.(601-603)Cgg>Tgg	p.R201W	IL21R_ENST00000395754.4_Missense_Mutation_p.R201W|IL21R_ENST00000564089.1_Missense_Mutation_p.R201W|IL21R_ENST00000395755.1_Missense_Mutation_p.R201W|IL21R_ENST00000564583.1_3'UTR	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	201	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.		R -> L (in IL21RID; loss of function mutation; the mutation results in defective trafficking of the protein, with misfolding, impaired processing and abnormal subcellular distribution rather than proper expression at the plasma membrane). {ECO:0000269|PubMed:23440042}.		interleukin-21-mediated signaling pathway (GO:0038114)|natural killer cell activation (GO:0030101)	integral component of membrane (GO:0016021)	interleukin-21 receptor activity (GO:0001532)	p.R201W(1)		breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						GCTGCAGGTGCGGGCAGGGCC	0.597			T	BCL6	NHL																																	ENST00000337929.3				Dom	yes		16	16p11	50615	T	interleukin 21 receptor			L	BCL6		NHL		1	Substitution - Missense(1)	p.R201W(1)	prostate(1)	breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						c.(601-603)Cgg>Tgg		interleukin 21 receptor							84.0	80.0	82.0					16																	27455956		2197	4300	6497	SO:0001583	missense	50615				natural killer cell activation	integral to membrane	interleukin-21 receptor activity	g.chr16:27455956C>T	AF254067	CCDS10630.1	16p11	2014-09-17			ENSG00000103522	ENSG00000103522		"""Interleukins and interleukin receptors"", ""CD molecules"""	6006	protein-coding gene	gene with protein product		605383				11081504	Standard	NM_181078		Approved	CD360	uc002dos.2	Q9HBE5	OTTHUMG00000131675	ENST00000337929.3:c.601C>T	16.37:g.27455956C>T	ENSP00000338010:p.Arg201Trp					IL21R_ENST00000395755.1_Missense_Mutation_p.R201W|IL21R_ENST00000395754.4_Missense_Mutation_p.R201W|IL21R_ENST00000564089.1_Missense_Mutation_p.R201W|IL21R_ENST00000564583.1_3'UTR	p.R201W	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN			6	1074	+			201			Fibronectin type-III.		A8K9E8|D3DWF7|Q96HZ1|Q9HB91	Missense_Mutation	SNP	ENST00000337929.3	37	c.601C>T	CCDS10630.1	.	.	.	.	.	.	.	.	.	.	C	19.92	3.917048	0.73098	.	.	ENSG00000103522	ENST00000337929;ENST00000395755;ENST00000395754	D;D;D	0.97575	-4.44;-4.44;-4.44	4.3	4.3	0.51218	Short hematopoietin receptor, family 1, conserved site (1);Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.067143	0.64402	D	0.000015	D	0.98134	0.9384	M	0.81497	2.545	0.49915	D	0.999836	D	0.89917	1.0	D	0.97110	1.0	D	0.98773	1.0729	10	0.87932	D	0	-32.3698	12.2813	0.54765	0.0:1.0:0.0:0.0	.	201	Q9HBE5	IL21R_HUMAN	W	201	ENSP00000338010:R201W;ENSP00000379104:R201W;ENSP00000379103:R201W	ENSP00000338010:R201W	R	+	1	2	IL21R	27363457	1.000000	0.71417	1.000000	0.80357	0.785000	0.44390	1.974000	0.40559	1.936000	0.56123	0.561000	0.74099	CGG		0.597	IL21R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254578.2	NM_181078		28	73	0	0	0	1	0	28	73				
PPFIA2	8499	broad.mit.edu	37	12	82147831	82147831	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr12:82147831G>A	ENST00000549396.1	-	3	330	c.170C>T	c.(169-171)tCa>tTa	p.S57L	PPFIA2_ENST00000333447.7_Missense_Mutation_p.S57L|PPFIA2_ENST00000549325.1_Missense_Mutation_p.S57L|PPFIA2_ENST00000552948.1_Missense_Mutation_p.S57L|PPFIA2_ENST00000550584.2_Missense_Mutation_p.S57L|PPFIA2_ENST00000548586.1_Missense_Mutation_p.S57L	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	57					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						CTGGGCAAGTGAGAGGCTTTC	0.517																																						ENST00000550584.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						c.(169-171)tCa>tTa		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2							64.0	67.0	66.0					12																	82147831		1943	4149	6092	SO:0001583	missense	8499							g.chr12:82147831G>A	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.170C>T	12.37:g.82147831G>A	ENSP00000450337:p.Ser57Leu					PPFIA2_ENST00000549325.1_Missense_Mutation_p.S57L|PPFIA2_ENST00000552948.1_Missense_Mutation_p.S57L|PPFIA2_ENST00000333447.7_Missense_Mutation_p.S57L|PPFIA2_ENST00000548586.1_Missense_Mutation_p.S57L|PPFIA2_ENST00000549396.1_Missense_Mutation_p.S57L	p.S57L	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN			2	465	-			316					B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	ENST00000549396.1	37	c.170C>T	CCDS55857.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.978767	0.53720	.	.	ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000552948;ENST00000551442;ENST00000547623	T;T;T;T;T;T;T	0.41758	1.31;1.31;1.31;1.31;1.31;0.99;0.99	5.95	5.06	0.68205	.	0.399070	0.23026	N	0.052795	T	0.26991	0.0661	N	0.14661	0.345	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.06127	-1.0844	10	0.59425	D	0.04	.	10.5637	0.45161	0.0694:0.133:0.7976:0.0	.	57	O75334	LIPA2_HUMAN	L	57;57;68;57;57;57;57;57	ENSP00000450337:S57L;ENSP00000450298:S57L;ENSP00000327416:S57L;ENSP00000449338:S57L;ENSP00000447868:S57L;ENSP00000449469:S57L;ENSP00000447918:S57L	ENSP00000327416:S57L	S	-	2	0	PPFIA2	80671962	1.000000	0.71417	0.891000	0.34965	0.957000	0.61999	4.344000	0.59354	1.513000	0.48852	0.650000	0.86243	TCA		0.517	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			7	25	0	0	0	1	0	7	25				
RHCE	6006	broad.mit.edu	37	1	25729191	25729191	+	Missense_Mutation	SNP	C	C	A	rs369664408		TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr1:25729191C>A	ENST00000294413.7	-	3	440	c.382G>T	c.(382-384)Ggt>Tgt	p.G128C	RHCE_ENST00000455194.1_Missense_Mutation_p.G128C|RHCE_ENST00000425135.1_Missense_Mutation_p.G128C|RHCE_ENST00000495048.1_5'UTR|RHCE_ENST00000340849.4_Missense_Mutation_p.G128C|RHCE_ENST00000413854.1_Missense_Mutation_p.G128C|RHCE_ENST00000349438.4_Missense_Mutation_p.G128C|RHCE_ENST00000243186.6_Missense_Mutation_p.G128C|RHCE_ENST00000346452.4_Missense_Mutation_p.G128C|RHCE_ENST00000374352.2_Missense_Mutation_p.G112C|RHCE_ENST00000349320.3_Missense_Mutation_p.G112C	NM_020485.4	NP_065231	P18577	RHCE_HUMAN	Rh blood group, CcEe antigens	128			G -> D (in dbSNP:rs1053347). {ECO:0000269|PubMed:11724987}.			integral component of plasma membrane (GO:0005887)	ammonium transmembrane transporter activity (GO:0008519)			endometrium(8)|large_intestine(6)|lung(3)	17		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)		AAGACAGCACCCGCTGAGATC	0.552																																						ENST00000349320.3																			0				endometrium(8)|large_intestine(6)|lung(3)	17						c.(334-336)Ggt>Tgt		Rh blood group, CcEe antigens							225.0	176.0	193.0					1																	25729191		2203	4300	6503	SO:0001583	missense	6006					integral to plasma membrane		g.chr1:25729191C>A	BC075081	CCDS30634.1, CCDS30635.1, CCDS30636.1, CCDS30637.1	1p36.11	2014-09-17	2006-02-23		ENSG00000188672	ENSG00000188672		"""CD molecules"", ""Blood group antigens"""	10008	protein-coding gene	gene with protein product		111700	"""Rhesus blood group, CcEe antigens"""	RH		8220426	Standard	NM_138618		Approved	CD240CE	uc001bkf.3	P18577	OTTHUMG00000007650	ENST00000294413.7:c.382G>T	1.37:g.25729191C>A	ENSP00000294413:p.Gly128Cys					RHCE_ENST00000294413.7_Missense_Mutation_p.G128C|RHCE_ENST00000243186.6_Missense_Mutation_p.G128C|RHCE_ENST00000495048.1_5'UTR|RHCE_ENST00000340849.4_Missense_Mutation_p.G128C|RHCE_ENST00000374352.2_Missense_Mutation_p.G112C|RHCE_ENST00000455194.1_Missense_Mutation_p.G128C|RHCE_ENST00000425135.1_Missense_Mutation_p.G128C|RHCE_ENST00000413854.1_Missense_Mutation_p.G128C|RHCE_ENST00000346452.4_Missense_Mutation_p.G128C|RHCE_ENST00000349438.4_Missense_Mutation_p.G128C	p.G112C			P18577	RHCE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)	5	722	-		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	128					A7DW68|B7UDF3|B7UDF4|B7UDF5|B7UDF6|B7UDF7|B7UDF8|B7UDF9|B7UDG0|B7UDG1|B7UDG2|B7UDG3|Q02163|Q02164|Q02165|Q16160|Q2MJW0|Q2VC86|Q3LTM6|Q6AZX5|Q6J2U3|Q7RU06|Q8IZT2|Q8IZT3|Q8IZT4|Q8IZT5|Q9UD13|Q9UD14|Q9UD15|Q9UD16|Q9UD73|Q9UD74|Q9UEC2|Q9UEC3|Q9UPN0	Missense_Mutation	SNP	ENST00000294413.7	37	c.334G>T	CCDS30635.1	.	.	.	.	.	.	.	.	.	.	C	7.924	0.739236	0.15642	.	.	ENSG00000188672	ENST00000413854;ENST00000539650;ENST00000455194;ENST00000374352;ENST00000243186;ENST00000425135;ENST00000340849;ENST00000349320;ENST00000346452;ENST00000294413;ENST00000447203;ENST00000349438	T;T;T;T;T;T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13	4.56	2.65	0.31530	Ammonium transporter AmtB-like (3);	0.236860	0.42682	D	0.000671	T	0.81351	0.4804	M	0.92784	3.345	0.22066	N	0.999388	P;D;D;D;P	0.89917	0.831;1.0;1.0;0.998;0.952	P;D;D;D;D	0.85130	0.686;0.992;0.997;0.997;0.925	T	0.73304	-0.4025	10	0.87932	D	0	-0.7053	10.0897	0.42439	0.0:0.8171:0.0:0.1829	.	112;128;128;128;128	Q5VSJ9;E7EQ47;Q5VSJ7;Q5VSJ8;P18577	.;.;.;.;RHCE_HUMAN	C	128;128;128;112;128;128;128;112;128;128;128;128	ENSP00000415417:G128C;ENSP00000416275:G128C;ENSP00000363472:G112C;ENSP00000243186:G128C;ENSP00000392809:G128C;ENSP00000345084:G128C;ENSP00000311185:G112C;ENSP00000344485:G128C;ENSP00000294413:G128C;ENSP00000334570:G128C	ENSP00000243186:G128C	G	-	1	0	RHCE	25601778	0.029000	0.19370	0.000000	0.03702	0.000000	0.00434	2.048000	0.41278	0.177000	0.19895	-1.626000	0.00786	GGT		0.552	RHCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020312.2	NM_020485		21	75	1	0	1.10923e-09	1	1.17029e-09	21	75				
SLC52A1	55065	broad.mit.edu	37	17	4936394	4936394	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr17:4936394C>T	ENST00000424747.1	-	5	1917	c.1205G>A	c.(1204-1206)gGt>gAt	p.G402D	SLC52A1_ENST00000254853.5_Missense_Mutation_p.G402D|SLC52A1_ENST00000512825.2_3'UTR	NM_001104577.1	NP_001098047.1	Q9NWF4	S52A1_HUMAN	solute carrier family 52 (riboflavin transporter), member 1	402					riboflavin transport (GO:0032218)	integral component of plasma membrane (GO:0005887)	riboflavin transporter activity (GO:0032217)|virus receptor activity (GO:0001618)										CCGACCCCCACCATGCAGCAG	0.622																																						ENST00000424747.1																			0											c.(1204-1206)gGt>gAt		solute carrier family 52 (riboflavin transporter), member 1							78.0	69.0	72.0					17																	4936394		2203	4300	6503	SO:0001583	missense	55065					integral to plasma membrane	receptor activity|riboflavin transporter activity	g.chr17:4936394C>T	AY070775	CCDS11066.1	17p13.3	2013-07-17	2013-07-17	2012-02-29	ENSG00000132517	ENSG00000132517		"""Solute carriers"""	30225	protein-coding gene	gene with protein product	"""riboflavin transporter 1"""	607883	"""G protein-coupled receptor 172B"""	GPR172B		12740431, 18632736	Standard	NM_001104577		Approved	FLJ10060, GPCR42, PAR2, hRFT1, RFVT1	uc002gao.4	Q9NWF4	OTTHUMG00000099448	ENST00000424747.1:c.1205G>A	17.37:g.4936394C>T	ENSP00000399979:p.Gly402Asp					SLC52A1_ENST00000254853.5_Missense_Mutation_p.G402D|SLC52A1_ENST00000512825.2_3'UTR	p.G402D	NM_001104577.1	NP_001098047.1	Q9NWF4	RFT_HUMAN			5	1917	-			402					B5MEV1|B5MEV2|Q6P9E0|Q86UT0	Missense_Mutation	SNP	ENST00000424747.1	37	c.1205G>A	CCDS11066.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.728116	0.00694	.	.	ENSG00000132517	ENST00000254853;ENST00000424747	T;T	0.73363	-0.74;-0.74	0.913	-0.221	0.13126	.	0.419143	0.25475	N	0.030415	T	0.42449	0.1203	N	0.11818	0.18	0.24548	N	0.994032	B	0.32573	0.376	B	0.26770	0.073	T	0.47947	-0.9077	10	0.02654	T	1	.	5.7937	0.18375	0.3131:0.6868:0.0:0.0	.	402	Q9NWF4	RFT_HUMAN	D	402	ENSP00000254853:G402D;ENSP00000399979:G402D	ENSP00000254853:G402D	G	-	2	0	GPR172B	4877118	0.346000	0.24844	0.132000	0.22025	0.018000	0.09664	1.430000	0.34914	-0.061000	0.13110	-0.182000	0.12963	GGT		0.622	SLC52A1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216913.1	NM_017986		51	40	0	0	0	1	0	51	40				
TRPC4	7223	broad.mit.edu	37	13	38211127	38211127	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr13:38211127A>T	ENST00000379705.3	-	11	3704	c.2847T>A	c.(2845-2847)caT>caA	p.H949Q	TRPC4_ENST00000379673.2_Missense_Mutation_p.H800Q|TRPC4_ENST00000358477.2_Missense_Mutation_p.H865Q|TRPC4_ENST00000338947.5_Missense_Mutation_p.H776Q|TRPC4_ENST00000379679.1_Missense_Mutation_p.H776Q|TRPC4_ENST00000447043.1_Missense_Mutation_p.H808Q|TRPC4_ENST00000355779.2_Missense_Mutation_p.H808Q|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000379681.3_Missense_Mutation_p.H954Q			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	949	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		CTTCTTTTGCATGTTTCTCCT	0.463																																						ENST00000379705.3																			0				NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83						c.(2845-2847)caT>caA		transient receptor potential cation channel, subfamily C, member 4							169.0	147.0	154.0					13																	38211127		2203	4300	6503	SO:0001583	missense	7223				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	g.chr13:38211127A>T	U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.2847T>A	13.37:g.38211127A>T	ENSP00000369027:p.His949Gln					TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000358477.2_Missense_Mutation_p.H865Q|TRPC4_ENST00000379679.1_Missense_Mutation_p.H776Q|TRPC4_ENST00000355779.2_Missense_Mutation_p.H808Q|TRPC4_ENST00000338947.5_Missense_Mutation_p.H776Q|TRPC4_ENST00000379673.2_Missense_Mutation_p.H800Q|TRPC4_ENST00000447043.1_Missense_Mutation_p.H808Q|TRPC4_ENST00000379681.3_Missense_Mutation_p.H954Q	p.H949Q			Q9UBN4	TRPC4_HUMAN		all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)	11	3704	-			949			Binds to ITPR1, ITPR2 and ITPR3.		B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Missense_Mutation	SNP	ENST00000379705.3	37	c.2847T>A	CCDS9365.1	.	.	.	.	.	.	.	.	.	.	A	5.781	0.328412	0.10956	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000355779;ENST00000358477;ENST00000379673;ENST00000447043	T;T;T;T;T;T;T;T	0.70282	-0.09;-0.09;0.12;0.12;0.22;-0.2;-0.47;0.22	5.72	-5.11	0.02901	.	0.855989	0.10398	N	0.679552	T	0.54663	0.1872	N	0.08118	0	0.09310	N	1	B;B;P;B;B;B	0.47253	0.073;0.016;0.892;0.09;0.213;0.028	B;B;P;B;B;B	0.52554	0.027;0.009;0.702;0.017;0.086;0.019	T	0.54410	-0.8298	10	0.29301	T	0.29	-11.6054	9.6953	0.40154	0.6376:0.1429:0.2195:0.0	.	808;800;954;776;865;949	Q9UBN4-3;Q9UBN4-4;Q9UBN4-5;Q9UBN4-6;Q9UBN4-2;Q9UBN4	.;.;.;.;.;TRPC4_HUMAN	Q	949;954;776;776;808;865;800;808	ENSP00000369027:H949Q;ENSP00000369003:H954Q;ENSP00000342580:H776Q;ENSP00000369001:H776Q;ENSP00000348025:H808Q;ENSP00000351264:H865Q;ENSP00000368995:H800Q;ENSP00000414316:H808Q	ENSP00000342580:H776Q	H	-	3	2	TRPC4	37109127	0.000000	0.05858	0.000000	0.03702	0.056000	0.15407	-2.036000	0.01421	-0.629000	0.05575	-0.256000	0.11100	CAT		0.463	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306		18	48	0	0	0	1	0	18	48				
C1QTNF2	114898	broad.mit.edu	37	5	159776736	159776736	+	Silent	SNP	G	G	A			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr5:159776736G>A	ENST00000393975.3	-	3	435	c.432C>T	c.(430-432)gcC>gcT	p.A144A		NM_031908.4	NP_114114.2	Q9BXJ5	C1QT2_HUMAN	C1q and tumor necrosis factor related protein 2	99					activation of MAPK activity (GO:0000187)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|protein heterotrimerization (GO:0070208)|protein homooligomerization (GO:0051260)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)				breast(2)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	13	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAATGGCCCCGGCTTTGCCCT	0.657																																						ENST00000393975.3																			0				breast(2)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	13						c.(430-432)gcC>gcT		C1q and tumor necrosis factor related protein 2							25.0	29.0	28.0					5																	159776736		2196	4296	6492	SO:0001819	synonymous_variant	114898					collagen		g.chr5:159776736G>A	AF329836	CCDS4351.2	5q33.3	2008-05-15			ENSG00000145861	ENSG00000145861			14325	protein-coding gene	gene with protein product							Standard	XM_005265815		Approved	CTRP2	uc003lyd.3	Q9BXJ5	OTTHUMG00000130323	ENST00000393975.3:c.432C>T	5.37:g.159776736G>A							p.A144A	NM_031908.4	NP_114114.2	Q9BXJ5	C1QT2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		3	435	-	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	99						Silent	SNP	ENST00000393975.3	37	c.432C>T	CCDS4351.2																																																																																				0.657	C1QTNF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252672.2			19	57	0	0	0	1	0	19	57				
RMDN2	151393	broad.mit.edu	37	2	38218436	38218436	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr2:38218436A>G	ENST00000406384.1	+	7	1135	c.941A>G	c.(940-942)tAt>tGt	p.Y314C	RMDN2_ENST00000234195.3_Missense_Mutation_p.Y492C|RMDN2-AS1_ENST00000414365.2_RNA|RMDN2_ENST00000417700.2_Missense_Mutation_p.Y169C|RMDN2_ENST00000407257.1_Missense_Mutation_p.Y492C|RMDN2_ENST00000354545.2_Missense_Mutation_p.Y314C	NM_001170792.1	NP_001164263.1	Q96LZ7	RMD2_HUMAN	regulator of microtubule dynamics 2	314						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)											AGATACTGCTATACTGTAAGT	0.299																																						ENST00000407257.1																			0											c.(1474-1476)tAt>tGt		regulator of microtubule dynamics 2							72.0	74.0	73.0					2																	38218436		2203	4300	6503	SO:0001583	missense	151393							g.chr2:38218436A>G	AK057516	CCDS1792.1, CCDS54351.1, CCDS54352.1	2p22.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000115841	ENSG00000115841			26567	protein-coding gene	gene with protein product		611872	"""family with sequence similarity 82, member A1"""	FAM82A, FAM82A1		12477932	Standard	XM_005264161		Approved	FLJ32954, RMD2	uc002rqn.2	Q96LZ7	OTTHUMG00000128487	ENST00000406384.1:c.941A>G	2.37:g.38218436A>G	ENSP00000386004:p.Tyr314Cys					RMDN2_ENST00000234195.3_Missense_Mutation_p.Y492C|RMDN2_ENST00000354545.2_Missense_Mutation_p.Y314C|RMDN2_ENST00000417700.2_Missense_Mutation_p.Y169C|RMDN2-AS1_ENST00000414365.2_RNA|RMDN2_ENST00000406384.1_Missense_Mutation_p.Y314C	p.Y492C							7	1622	+								A9UMZ7|A9UN00|Q4ZG33|Q6UXN4|Q8N657|Q8N9A2|Q8NCV6|Q8NHM0	Missense_Mutation	SNP	ENST00000406384.1	37	c.1475A>G	CCDS54351.1	.	.	.	.	.	.	.	.	.	.	A	18.32	3.597621	0.66332	.	.	ENSG00000115841	ENST00000354545;ENST00000406384;ENST00000407257;ENST00000417700;ENST00000234195;ENST00000442857	T;T;T;T;T;T	0.56103	0.48;0.48;0.48;0.48;0.48;0.48	5.63	5.63	0.86233	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.76414	0.3984	M	0.88704	2.975	0.54753	D	0.999989	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.83275	0.996;0.991;0.991;0.994	T	0.81141	-0.1068	10	0.72032	D	0.01	.	14.0801	0.64914	1.0:0.0:0.0:0.0	.	492;169;314;169	Q96LZ7-2;Q96LZ7-4;Q96LZ7;Q96LZ7-3	.;.;RMD2_HUMAN;.	C	314;314;492;169;492;169	ENSP00000346549:Y314C;ENSP00000386004:Y314C;ENSP00000385049:Y492C;ENSP00000392977:Y169C;ENSP00000234195:Y492C;ENSP00000416367:Y169C	ENSP00000234195:Y492C	Y	+	2	0	FAM82A1	38071940	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	5.926000	0.70070	2.271000	0.75665	0.533000	0.62120	TAT		0.299	RMDN2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325577.1	NM_144713		18	37	0	0	0	1	0	18	37				
NGEF	25791	broad.mit.edu	37	2	233839353	233839353	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr2:233839353C>T	ENST00000264051.3	-	2	526	c.248G>A	c.(247-249)cGg>cAg	p.R83Q		NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	83	Regulatory region; modulates activity toward RHOA, RAC1 and CDC42. {ECO:0000250}.				apoptotic signaling pathway (GO:0097190)|ephrin receptor signaling pathway (GO:0048013)|negative regulation of dendritic spine morphogenesis (GO:0061002)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		GCTGGCGTTCCGTTCGGGGTT	0.502																																						ENST00000264051.3																			0				central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35						c.(247-249)cGg>cAg		neuronal guanine nucleotide exchange factor							241.0	233.0	236.0					2																	233839353		2203	4300	6503	SO:0001583	missense	25791				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr2:233839353C>T	AJ238899	CCDS2500.1, CCDS46544.1	2q37	2012-07-24			ENSG00000066248	ENSG00000066248		"""Rho guanine nucleotide exchange factors"""	7807	protein-coding gene	gene with protein product	"""ephexin"""	605991				10777665	Standard	NM_019850		Approved	ARHGEF27	uc002vts.2	Q8N5V2	OTTHUMG00000133272	ENST00000264051.3:c.248G>A	2.37:g.233839353C>T	ENSP00000264051:p.Arg83Gln						p.R83Q	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)	2	526	-		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	83			Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity).		B4DMB8|B9A045|E9PC42|Q53QQ4|Q53ST7|Q6GMQ5|Q9NQD6	Missense_Mutation	SNP	ENST00000264051.3	37	c.248G>A	CCDS2500.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.651|8.651	0.898354|0.898354	0.17686|0.17686	.|.	.|.	ENSG00000066248|ENSG00000066248	ENST00000414326|ENST00000264051	.|T	.|0.69806	.|-0.43	4.12|4.12	-8.25|-8.25	0.01025|0.01025	.|.	.|4.531350	.|0.00682	.|N	.|0.000696	T|T	0.42245|0.42245	0.1194|0.1194	N|N	0.12182|0.12182	0.205|0.205	0.09310|0.09310	N|N	1|1	.|B	.|0.10296	.|0.003	.|B	.|0.01281	.|0.0	T|T	0.35151|0.35151	-0.9800|-0.9800	5|10	.|0.14656	.|T	.|0.56	-1.4748|-1.4748	8.3902|8.3902	0.32524|0.32524	0.0:0.1593:0.2723:0.5684|0.0:0.1593:0.2723:0.5684	.|.	.|83	.|Q8N5V2	.|NGEF_HUMAN	R|Q	52|83	.|ENSP00000264051:R83Q	.|ENSP00000264051:R83Q	G|R	-|-	1|2	0|0	NGEF|NGEF	233547597|233547597	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-2.309000|-2.309000	0.01130|0.01130	-2.279000|-2.279000	0.00676|0.00676	-0.806000|-0.806000	0.03193|0.03193	GGA|CGG		0.502	NGEF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257051.2	XM_044799		64	166	0	0	0	1	0	64	166				
ARID2	196528	broad.mit.edu	37	12	46245858	46245858	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr12:46245858C>T	ENST00000334344.6	+	15	4124	c.3952C>T	c.(3952-3954)Cag>Tag	p.Q1318*	ARID2_ENST00000422737.1_Nonsense_Mutation_p.Q1169*|ARID2_ENST00000444670.1_Nonsense_Mutation_p.Q928*|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000457135.1_5'Flank	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1318					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)	p.Q1318*(1)		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)		TGAGACTAATCAGTGCTCACT	0.393			"""N, S, F"""		hepatocellular carcinoma																																	ENST00000334344.6				Rec	yes		12	12q12	196528	"""N, S, F"""	AT rich interactive domain 2			E			hepatocellular carcinoma		1	Substitution - Nonsense(1)	p.Q1318*(1)	large_intestine(1)	NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116						c.(3952-3954)Cag>Tag		AT rich interactive domain 2 (ARID, RFX-like)							54.0	53.0	54.0					12																	46245858		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.chr12:46245858C>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.3952C>T	12.37:g.46245858C>T	ENSP00000335044:p.Gln1318*					ARID2_ENST00000444670.1_Nonsense_Mutation_p.Q928*|ARID2_ENST00000422737.1_Nonsense_Mutation_p.Q1169*|ARID2_ENST00000479608.1_3'UTR	p.Q1318*	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	15	4124	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	1318					Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Nonsense_Mutation	SNP	ENST00000334344.6	37	c.3952C>T	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	C	43	10.250677	0.99368	.	.	ENSG00000189079	ENST00000334344;ENST00000549153;ENST00000338636;ENST00000422737;ENST00000444670	.	.	.	6.07	6.07	0.98685	.	0.312106	0.32314	N	0.006264	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-5.0E-4	13.7909	0.63140	0.0:0.9305:0.0:0.0695	.	.	.	.	X	1318;435;435;1169;928	.	ENSP00000335044:Q1318X	Q	+	1	0	ARID2	44532125	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.116000	0.41930	2.884000	0.98904	0.655000	0.94253	CAG		0.393	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		15	34	0	0	0	1	0	15	34				
TAPBP	6892	broad.mit.edu	37	6	33272960	33272960	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr6:33272960T>C	ENST00000489157.1	-	3	625	c.413A>G	c.(412-414)aAt>aGt	p.N138S	TAPBP_ENST00000426633.2_Missense_Mutation_p.N225S|TAPBP_ENST00000434618.2_Missense_Mutation_p.N225S|TAPBP_ENST00000456592.2_Missense_Mutation_p.N225S|TAPBP_ENST00000475304.1_Missense_Mutation_p.N243S			O15533	TPSN_HUMAN	TAP binding protein (tapasin)	225					amide transport (GO:0042886)|antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|peptide antigen stabilization (GO:0050823)|peptide transport (GO:0015833)|protein complex assembly (GO:0006461)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of membrane (GO:0016021)|MHC class I peptide loading complex (GO:0042824)	MHC class I protein binding (GO:0042288)|peptide antigen binding (GO:0042605)|peptide antigen-transporting ATPase activity (GO:0015433)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)|unfolded protein binding (GO:0051082)			endometrium(2)|large_intestine(5)|lung(8)|ovary(3)	18						CATCTGGCCATTCAGCCCAGG	0.627																																						ENST00000434618.2																			0				endometrium(2)|large_intestine(5)|lung(8)|ovary(3)	18						c.(673-675)aAt>aGt		TAP binding protein (tapasin)							47.0	52.0	50.0					6																	33272960		2203	4300	6503	SO:0001583	missense	6892				antigen processing and presentation of endogenous peptide antigen via MHC class I|immune response|peptide antigen stabilization|protein complex assembly|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|MHC class I peptide loading complex|microsome	MHC class I protein binding|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|unfolded protein binding	g.chr6:33272960T>C	Y13582	CCDS34426.1, CCDS34427.1, CCDS34428.1, CCDS34427.2, CCDS34428.2	6p21.3	2014-09-17			ENSG00000231925	ENSG00000231925		"""Immunoglobulin superfamily / C1-set domain containing"""	11566	protein-coding gene	gene with protein product		601962				9238042	Standard	NM_003190		Approved	TAPA	uc003odz.3	O15533	OTTHUMG00000031090	ENST00000489157.1:c.413A>G	6.37:g.33272960T>C	ENSP00000419659:p.Asn138Ser					TAPBP_ENST00000489157.1_Missense_Mutation_p.N138S|TAPBP_ENST00000475304.1_Missense_Mutation_p.N243S|TAPBP_ENST00000456592.2_Missense_Mutation_p.N225S|TAPBP_ENST00000426633.2_Missense_Mutation_p.N225S	p.N225S	NM_003190.4|NM_172209.2	NP_003181.3|NP_757346.2	O15533	TPSN_HUMAN			4	1019	-			225					A2AB91|A2ABC0|B0V003|B0V0A6|B2ZUA4|E9PGM2|O15210|O15272|Q5STJ8|Q5STK6|Q5STQ5|Q5STQ6|Q66K65|Q96KK7|Q9HAN8|Q9UEE0|Q9UEE4|Q9UIZ6|Q9Y6K2	Missense_Mutation	SNP	ENST00000489157.1	37	c.674A>G	CCDS34427.2	.	.	.	.	.	.	.	.	.	.	T	4.547	0.101638	0.08731	.	.	ENSG00000231925	ENST00000434618;ENST00000475304;ENST00000489157;ENST00000426633;ENST00000456592;ENST00000449540;ENST00000437741;ENST00000467025	T;T;T;T;T	0.29917	1.58;1.6;1.6;1.55;1.58	4.96	-9.93	0.00452	.	0.828610	0.10796	N	0.633182	T	0.03053	0.0090	N	0.12182	0.205	0.09310	N	1	B;B;B;B;B;B	0.09022	0.0;0.0;0.002;0.0;0.0;0.0	B;B;B;B;B;B	0.06405	0.0;0.0;0.002;0.0;0.0;0.0	T	0.23762	-1.0179	10	0.22706	T	0.39	-15.2212	6.2725	0.20963	0.1029:0.5212:0.2092:0.1667	.	225;138;243;225;225;225	G5E9H8;E9PGM2;A2AB90;O15533-3;G3V0I4;O15533	.;.;.;.;.;TPSN_HUMAN	S	225;243;138;225;225;225;225;168	ENSP00000395701:N225S;ENSP00000417949:N243S;ENSP00000419659:N138S;ENSP00000404833:N225S;ENSP00000387803:N225S	ENSP00000404833:N225S	N	-	2	0	TAPBP	33380938	0.000000	0.05858	0.000000	0.03702	0.422000	0.31414	-3.551000	0.00433	-2.565000	0.00471	0.448000	0.29417	AAT		0.627	TAPBP-006	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276425.2			22	70	0	0	0	1	0	22	70				
WBP2NL	164684	broad.mit.edu	37	22	42422963	42422963	+	Silent	SNP	A	A	T	rs368357715		TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr22:42422963A>T	ENST00000328823.9	+	6	739	c.708A>T	c.(706-708)ctA>ctT	p.L236L	WBP2NL_ENST00000543212.1_Silent_p.L162L	NM_152613.2	NP_689826.2	Q6ICG8	WBP2L_HUMAN	WBP2 N-terminal like	236	10 X 7 AA tandem repeat of Y-G-X-P-P-X-G.|Gly-rich.				egg activation (GO:0007343)|male pronucleus assembly (GO:0035039)|meiotic nuclear division (GO:0007126)	perinuclear theca (GO:0033011)	WW domain binding (GO:0050699)			breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						CCCCACCTCTAGGATATGGAG	0.602													a|||	1	0.000199681	0.0	0.0	5008	,	,		14099	0.0		0.001	False		,,,				2504	0.0					ENST00000328823.9																			0				breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						c.(706-708)ctA>ctT		WBP2 N-terminal like		-		0,4406		0,0,2203	145.0	162.0	156.0		708	-8.4	0.0	22		156	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	WBP2NL	NM_152613.2		0,1,6502	TT,TA,AA		0.0116,0.0,0.0077		236/310	42422963	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	164684				egg activation|male pronucleus assembly|meiosis	perinuclear theca	WW domain binding	g.chr22:42422963A>T	BC022546	CCDS14029.1	22q13.2	2007-07-18			ENSG00000183066	ENSG00000183066			28389	protein-coding gene	gene with protein product	"""postacrosomal sheath WW domain-binding protein"""	610981				17289678	Standard	NM_152613		Approved	FLJ26145, MGC26816, PAWP	uc003bbt.3	Q6ICG8	OTTHUMG00000151270	ENST00000328823.9:c.708A>T	22.37:g.42422963A>T						WBP2NL_ENST00000543212.1_Silent_p.L162L	p.L236L	NM_152613.2	NP_689826.2	Q6ICG8	WBP2L_HUMAN			6	739	+			236			10 X 7 AA tandem repeat of Y-G-X-P-P-X-G.|Gly-rich.		A3KFF7|A8MSG5|B3KXX4|Q8TBF0|Q8TBF3	Silent	SNP	ENST00000328823.9	37	c.708A>T	CCDS14029.1																																																																																				0.602	WBP2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322037.1	NM_152613		50	294	0	0	0	1	0	50	294				
ZDHHC14	79683	broad.mit.edu	37	6	158093959	158093959	+	Silent	SNP	G	G	A	rs376404349		TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr6:158093959G>A	ENST00000359775.5	+	9	2161	c.1272G>A	c.(1270-1272)gcG>gcA	p.A424A	ZDHHC14_ENST00000341375.8_3'UTR|ZDHHC14_ENST00000414563.2_Silent_p.A409A			Q8IZN3	ZDH14_HUMAN	zinc finger, DHHC-type containing 14	424					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17		Breast(66;0.00586)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)		CCACGCTCGCGGACGTGATGC	0.741																																						ENST00000359775.5																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17						c.(1270-1272)gcG>gcA		zinc finger, DHHC-type containing 14		G	,	0,4372		0,0,2186	17.0	16.0	16.0		1272,1227	-9.8	0.4	6		16	1,8543		0,1,4271	no	coding-synonymous,coding-synonymous	ZDHHC14	NM_024630.2,NM_153746.1	,	0,1,6457	AA,AG,GG		0.0117,0.0,0.0077	,	424/489,409/474	158093959	1,12915	2186	4272	6458	SO:0001819	synonymous_variant	79683					integral to membrane	acyltransferase activity|zinc ion binding	g.chr6:158093959G>A	AF542388	CCDS5252.1, CCDS47510.1	6q25.3	2008-05-02			ENSG00000175048	ENSG00000175048		"""Zinc fingers, DHHC-type"""	20341	protein-coding gene	gene with protein product							Standard	NM_024630		Approved	FLJ20984, NEW1CP	uc003qqt.3	Q8IZN3	OTTHUMG00000015896	ENST00000359775.5:c.1272G>A	6.37:g.158093959G>A						ZDHHC14_ENST00000414563.2_Silent_p.A409A|ZDHHC14_ENST00000341375.8_3'UTR	p.A424A			Q8IZN3	ZDH14_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)	9	2161	+		Breast(66;0.00586)|Ovarian(120;0.123)	424					A6NDB7|Q5JS07|Q5JS08|Q6PHS4|Q8IZN2|Q9H7F1	Silent	SNP	ENST00000359775.5	37	c.1272G>A	CCDS5252.1																																																																																				0.741	ZDHHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042841.2	NM_153746		6	5	0	0	0	1	0	6	5				
FANCM	57697	broad.mit.edu	37	14	45639847	45639847	+	Silent	SNP	A	A	G			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr14:45639847A>G	ENST00000267430.5	+	12	2143	c.2058A>G	c.(2056-2058)aaA>aaG	p.K686K	FANCM_ENST00000542564.2_Silent_p.K660K	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	686					DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AAGAATTTAAATTATGGAACA	0.294								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000267430.5																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						c.(2056-2058)aaA>aaG	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group M							50.0	57.0	54.0					14																	45639847		2200	4299	6499	SO:0001819	synonymous_variant	57697	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	g.chr14:45639847A>G	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.2058A>G	14.37:g.45639847A>G						FANCM_ENST00000542564.2_Silent_p.K660K	p.K686K	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN			12	2143	+			686					B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Silent	SNP	ENST00000267430.5	37	c.2058A>G	CCDS32070.1																																																																																				0.294	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		5	24	0	0	0	1	0	5	24				
EPAS1	2034	broad.mit.edu	37	2	46587863	46587863	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr2:46587863C>T	ENST00000263734.3	+	5	1051	c.541C>T	c.(541-543)Cgt>Tgt	p.R181C		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	181					angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			CAACAGAGGCCGTACTGTCAA	0.552																																						ENST00000263734.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(541-543)Cgt>Tgt		endothelial PAS domain protein 1							84.0	76.0	79.0					2																	46587863		2203	4300	6503	SO:0001583	missense	2034				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding	g.chr2:46587863C>T	U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"""Basic helix-loop-helix proteins"""	3374	protein-coding gene	gene with protein product	"""HIF-1 alpha-like factor"""	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.541C>T	2.37:g.46587863C>T	ENSP00000263734:p.Arg181Cys						p.R181C	NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.151)		5	1051	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	181					Q86VA2|Q99630	Missense_Mutation	SNP	ENST00000263734.3	37	c.541C>T	CCDS1825.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.143970	0.77888	.	.	ENSG00000116016	ENST00000449347;ENST00000263734	T;T	0.56444	2.07;0.46	4.7	3.74	0.42951	.	0.053285	0.64402	D	0.000001	T	0.68833	0.3044	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.71781	-0.4489	10	0.87932	D	0	.	10.3167	0.43740	0.3954:0.6046:0.0:0.0	.	181	Q99814	EPAS1_HUMAN	C	181	ENSP00000406137:R181C;ENSP00000263734:R181C	ENSP00000263734:R181C	R	+	1	0	EPAS1	46441367	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	4.687000	0.61708	2.468000	0.83385	0.555000	0.69702	CGT		0.552	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250752.2	NM_001430		23	36	0	0	0	1	0	23	36				
WBP2NL	164684	broad.mit.edu	37	22	42422962	42422962	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr22:42422962T>C	ENST00000328823.9	+	6	738	c.707T>C	c.(706-708)cTa>cCa	p.L236P	WBP2NL_ENST00000543212.1_Missense_Mutation_p.L162P	NM_152613.2	NP_689826.2	Q6ICG8	WBP2L_HUMAN	WBP2 N-terminal like	236	10 X 7 AA tandem repeat of Y-G-X-P-P-X-G.|Gly-rich.				egg activation (GO:0007343)|male pronucleus assembly (GO:0035039)|meiotic nuclear division (GO:0007126)	perinuclear theca (GO:0033011)	WW domain binding (GO:0050699)			breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						GCCCCACCTCTAGGATATGGA	0.597																																						ENST00000328823.9																			0				breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						c.(706-708)cTa>cCa		WBP2 N-terminal like							145.0	162.0	156.0					22																	42422962		2203	4300	6503	SO:0001583	missense	164684				egg activation|male pronucleus assembly|meiosis	perinuclear theca	WW domain binding	g.chr22:42422962T>C	BC022546	CCDS14029.1	22q13.2	2007-07-18			ENSG00000183066	ENSG00000183066			28389	protein-coding gene	gene with protein product	"""postacrosomal sheath WW domain-binding protein"""	610981				17289678	Standard	NM_152613		Approved	FLJ26145, MGC26816, PAWP	uc003bbt.3	Q6ICG8	OTTHUMG00000151270	ENST00000328823.9:c.707T>C	22.37:g.42422962T>C	ENSP00000332983:p.Leu236Pro					WBP2NL_ENST00000543212.1_Missense_Mutation_p.L162P	p.L236P	NM_152613.2	NP_689826.2	Q6ICG8	WBP2L_HUMAN			6	738	+			236			10 X 7 AA tandem repeat of Y-G-X-P-P-X-G.|Gly-rich.		A3KFF7|A8MSG5|B3KXX4|Q8TBF0|Q8TBF3	Missense_Mutation	SNP	ENST00000328823.9	37	c.707T>C	CCDS14029.1	.	.	.	.	.	.	.	.	.	.	t	13.86	2.364062	0.41902	.	.	ENSG00000183066	ENST00000328823;ENST00000543212	T;T	0.22336	2.28;1.96	4.24	-8.48	0.00935	WW-domain-binding protein (1);	.	.	.	.	T	0.03305	0.0096	N	0.00152	-1.975	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48422	-0.9037	9	0.23891	T	0.37	.	7.5784	0.27950	0.0:0.4027:0.2868:0.3105	.	236	Q6ICG8	WBP2L_HUMAN	P	236;162	ENSP00000332983:L236P;ENSP00000442447:L162P	ENSP00000332983:L236P	L	+	2	0	WBP2NL	40752908	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.621000	0.00878	-1.769000	0.01297	-0.854000	0.03029	CTA		0.597	WBP2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322037.1	NM_152613		23	324	0	0	0	1	0	23	324				
TOP3A	7156	broad.mit.edu	37	17	18208525	18208525	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr17:18208525C>G	ENST00000321105.5	-	5	614	c.400G>C	c.(400-402)Gaa>Caa	p.E134Q	TOP3A_ENST00000582230.1_5'Flank|TOP3A_ENST00000542570.1_Missense_Mutation_p.E39Q	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	134	Toprim. {ECO:0000255|PROSITE- ProRule:PRU00995}.				DNA topological change (GO:0006265)|meiotic nuclear division (GO:0007126)	chromosome (GO:0005694)|nucleus (GO:0005634)|PML body (GO:0016605)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						GTCTCTCGTTCCAAAGTTTTC	0.468																																						ENST00000321105.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						c.(400-402)Gaa>Caa		topoisomerase (DNA) III alpha							97.0	94.0	95.0					17																	18208525		2203	4300	6503	SO:0001583	missense	7156				DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding	g.chr17:18208525C>G	U43431	CCDS11194.1	17p12-p11.2	2014-02-18			ENSG00000177302	ENSG00000177302			11992	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 7"""	601243		TOP3		9450867	Standard	NM_004618		Approved	ZGRF7	uc002gsx.1	Q13472	OTTHUMG00000059391	ENST00000321105.5:c.400G>C	17.37:g.18208525C>G	ENSP00000321636:p.Glu134Gln					TOP3A_ENST00000542570.1_Missense_Mutation_p.E39Q	p.E134Q	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN			5	614	-			134			Toprim.		A8KA61|B4DK80|D3DXC7|Q13473	Missense_Mutation	SNP	ENST00000321105.5	37	c.400G>C	CCDS11194.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.85|14.85	2.658695|2.658695	0.47467|0.47467	.|.	.|.	ENSG00000177302|ENSG00000177302	ENST00000321105;ENST00000542570|ENST00000412083	T;T|.	0.22336|.	1.96;3.03|.	5.61|5.61	4.63|4.63	0.57726|0.57726	DNA topoisomerase, type IA, core domain (1);Toprim domain (2);|.	0.043415|.	0.85682|.	N|.	0.000000|.	T|T	0.58694|0.58694	0.2140|0.2140	L|L	0.37897|0.37897	1.145|1.145	0.80722|0.80722	D|D	1|1	B;B|.	0.27732|.	0.09;0.187|.	B;B|.	0.34180|.	0.126;0.177|.	T|T	0.55211|0.55211	-0.8176|-0.8176	10|5	0.36615|.	T|.	0.2|.	-17.4462|-17.4462	16.4811|16.4811	0.84158|0.84158	0.0:0.8687:0.1313:0.0|0.0:0.8687:0.1313:0.0	.|.	39;134|.	B4DK80;Q13472|.	.;TOP3A_HUMAN|.	Q|A	134;39|113	ENSP00000321636:E134Q;ENSP00000442336:E39Q|.	ENSP00000321636:E134Q|.	E|G	-|-	1|2	0|0	TOP3A|TOP3A	18149250|18149250	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.921000|0.921000	0.55340|0.55340	5.361000|5.361000	0.66092|0.66092	1.342000|1.342000	0.45619|0.45619	0.655000|0.655000	0.94253|0.94253	GAA|GGA		0.468	TOP3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132052.2			40	21	0	0	0	1	0	40	21				
VPS13C	54832	broad.mit.edu	37	15	62253878	62253878	+	Missense_Mutation	SNP	T	T	C	rs114138011		TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr15:62253878T>C	ENST00000261517.5	-	35	3891	c.3818A>G	c.(3817-3819)aAt>aGt	p.N1273S	VPS13C_ENST00000395898.3_Missense_Mutation_p.N1230S|VPS13C_ENST00000395896.4_Missense_Mutation_p.N1273S|VPS13C_ENST00000249837.3_Missense_Mutation_p.N1230S	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						ACTGAACTGATTATGAACTCT	0.383													T|||	1	0.000199681	0.0	0.0	5008	,	,		16260	0.0		0.001	False		,,,				2504	0.0					ENST00000261517.5																			0				NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(3817-3819)aAt>aGt		vacuolar protein sorting 13 homolog C (S. cerevisiae)							105.0	103.0	104.0					15																	62253878		2203	4300	6503	SO:0001583	missense	54832				protein localization			g.chr15:62253878T>C	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.3818A>G	15.37:g.62253878T>C	ENSP00000261517:p.Asn1273Ser					VPS13C_ENST00000395896.4_Missense_Mutation_p.N1273S|VPS13C_ENST00000395898.3_Missense_Mutation_p.N1230S|VPS13C_ENST00000249837.3_Missense_Mutation_p.N1230S	p.N1273S	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN			35	3891	-			1273						Missense_Mutation	SNP	ENST00000261517.5	37	c.3818A>G	CCDS32257.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	T	23.7	4.446379	0.84101	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.15952	2.38;2.38;2.38	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.45054	0.1323	M	0.90019	3.08	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.961;1.0	D;D;P;D	0.85130	0.997;0.96;0.786;0.994	T	0.57985	-0.7716	10	0.02654	T	1	.	16.0677	0.80897	0.0:0.0:0.0:1.0	.	1230;1273;1230;1273	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	S	1230;1273;1273;1273	ENSP00000249837:N1230S;ENSP00000261517:N1273S;ENSP00000379233:N1273S	ENSP00000249837:N1230S	N	-	2	0	VPS13C	60041170	1.000000	0.71417	0.395000	0.26283	0.953000	0.61014	7.698000	0.84413	2.185000	0.69588	0.460000	0.39030	AAT		0.383	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		24	72	0	0	0	1	0	24	72				
NBEAL1	65065	broad.mit.edu	37	2	204000972	204000972	+	Silent	SNP	A	A	G			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr2:204000972A>G	ENST00000449802.1	+	27	4632	c.4299A>G	c.(4297-4299)caA>caG	p.Q1433Q		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1433										NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TTGAAAGCCAAGAGGTAAAAT	0.328																																						ENST00000449802.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						c.(4297-4299)caA>caG		neurobeachin-like 1							54.0	51.0	52.0					2																	204000972		1843	4087	5930	SO:0001819	synonymous_variant	65065						binding	g.chr2:204000972A>G	AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"""WD repeat domain containing"""	20681	protein-coding gene	gene with protein product		609816	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"""	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.4299A>G	2.37:g.204000972A>G							p.Q1433Q	NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN			27	4632	+			1433					A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Silent	SNP	ENST00000449802.1	37	c.4299A>G	CCDS46495.1																																																																																				0.328	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4			6	29	0	0	0	1	0	6	29				
RANBP17	64901	broad.mit.edu	37	5	170725847	170725847	+	Silent	SNP	C	C	T			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr5:170725847C>T	ENST00000523189.1	+	28	3416	c.3252C>T	c.(3250-3252)ctC>ctT	p.L1084L	RANBP17_ENST00000521759.1_3'UTR	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	1084					mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CATGCAGTCTCGACATGATGA	0.507			T	TRD@	ALL																																	ENST00000523189.1				Dom	yes		5	5q34	64901	T	RAN binding protein 17			L	TRD@		ALL		0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50						c.(3250-3252)ctC>ctT		RAN binding protein 17							117.0	96.0	104.0					5																	170725847		2203	4300	6503	SO:0001819	synonymous_variant	64901				mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity	g.chr5:170725847C>T	AF222747	CCDS34287.1	5q34	2009-01-12			ENSG00000204764	ENSG00000204764			14428	protein-coding gene	gene with protein product		606141				11024021	Standard	NM_022897		Approved		uc003mba.3	Q9H2T7	OTTHUMG00000163203	ENST00000523189.1:c.3252C>T	5.37:g.170725847C>T						RANBP17_ENST00000521759.1_3'UTR	p.L1084L	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		28	3416	+	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1084					Q8IU74	Silent	SNP	ENST00000523189.1	37	c.3252C>T	CCDS34287.1																																																																																				0.507	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000372036.1	NM_022897		13	23	0	0	0	1	0	13	23				
TLN1	7094	broad.mit.edu	37	9	35704667	35704667	+	Splice_Site	SNP	T	T	A			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr9:35704667T>A	ENST00000314888.9	-	44	6232	c.5879A>T	c.(5878-5880)aAg>aTg	p.K1960M	TLN1_ENST00000464379.1_5'UTR|TLN1_ENST00000540444.1_Splice_Site_p.K1854M	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1960					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CACCGTCACCTTCTCAGAGAC	0.597																																						ENST00000314888.9																			0				NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85						c.e44+1		talin 1							122.0	95.0	104.0					9																	35704667		2203	4300	6503	SO:0001630	splice_region_variant	7094				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	g.chr9:35704667T>A	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.5880+1A>T	9.37:g.35704667T>A						TLN1_ENST00000540444.1_Splice_Site_p.K1854_splice|TLN1_ENST00000464379.1_5'UTR	p.K1960_splice	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		44	6232	-	all_epithelial(49;0.167)		1960					A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Splice_Site	SNP	ENST00000314888.9	37	c.5880_splice	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.002933	0.74932	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.49720	0.77;0.77	4.87	4.87	0.63330	Vinculin-binding site-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.70360	0.3215	M	0.83483	2.645	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.76002	-0.3118	10	0.72032	D	0.01	-18.8287	14.4768	0.67551	0.0:0.0:0.0:1.0	.	1960	Q9Y490	TLN1_HUMAN	M	1960;1854	ENSP00000316029:K1960M;ENSP00000442981:K1854M	ENSP00000316029:K1960M	K	-	2	0	TLN1	35694667	1.000000	0.71417	1.000000	0.80357	0.764000	0.43329	8.036000	0.88901	1.825000	0.53177	0.379000	0.24179	AAG		0.597	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289	Missense_Mutation	25	86	0	0	0	1	0	25	86				
DCAF10	79269	broad.mit.edu	37	9	37842132	37842132	+	Missense_Mutation	SNP	A	A	G	rs371428227		TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr9:37842132A>G	ENST00000377724.3	+	3	1065	c.700A>G	c.(700-702)Ata>Gta	p.I234V	DCAF10_ENST00000242323.7_Missense_Mutation_p.I234V|RP11-613M10.9_ENST00000540557.1_Intron	NM_024345.3	NP_077321.3	Q5QP82	DCA10_HUMAN	DDB1 and CUL4 associated factor 10	234					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	12						TGACACTACAATAGCACTATG	0.363																																						ENST00000242323.7																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	12						c.(700-702)Ata>Gta		DDB1 and CUL4 associated factor 10		A	VAL/ILE	0,4406		0,0,2203	154.0	136.0	142.0		700	4.3	1.0	9		142	1,8599	1.2+/-3.3	0,1,4299	no	missense	DCAF10	NM_024345.3	29	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	possibly-damaging	234/560	37842132	1,13005	2203	4300	6503	SO:0001583	missense	79269					CUL4 RING ubiquitin ligase complex		g.chr9:37842132A>G	BC003520	CCDS6613.2, CCDS75835.1	9p13.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000122741	ENSG00000122741		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	23686	protein-coding gene	gene with protein product			"""WD repeat domain 32"""	WDR32			Standard	NM_001286810		Approved	MGC10765, FLJ23201	uc004aao.3	Q5QP82	OTTHUMG00000019934	ENST00000377724.3:c.700A>G	9.37:g.37842132A>G	ENSP00000366953:p.Ile234Val					RP11-613M10.9_ENST00000540557.1_Intron|DCAF10_ENST00000377724.3_Missense_Mutation_p.I234V	p.I234V			Q5QP82	DCA10_HUMAN			3	774	+			234					A4VCJ5|Q32NE2|Q8N2Q5|Q96ET5|Q9BTQ5|Q9H5P6	Missense_Mutation	SNP	ENST00000377724.3	37	c.700A>G	CCDS6613.2	.	.	.	.	.	.	.	.	.	.	A	4.825	0.153372	0.09185	0.0	1.16E-4	ENSG00000122741	ENST00000377724;ENST00000242323	T;T	0.62105	0.05;0.05	5.49	4.33	0.51752	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.36608	0.0973	N	0.04132	-0.27	0.58432	D	0.999997	B;P	0.39809	0.026;0.689	B;B	0.38106	0.025;0.265	T	0.14504	-1.0470	10	0.17832	T	0.49	.	10.7745	0.46342	0.8403:0.1597:0.0:0.0	.	234;234	Q5QP82-2;Q5QP82	.;DCA10_HUMAN	V	234	ENSP00000366953:I234V;ENSP00000242323:I234V	ENSP00000242323:I234V	I	+	1	0	DCAF10	37832132	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.935000	0.92923	0.896000	0.36366	0.533000	0.62120	ATA		0.363	DCAF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052485.2	NM_024345		13	56	0	0	0	1	0	13	56				
PRDM12	59335	broad.mit.edu	37	9	133540115	133540115	+	Silent	SNP	C	C	T			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr9:133540115C>T	ENST00000253008.2	+	1	135	c.75C>T	c.(73-75)gcC>gcT	p.A25A		NM_021619.2	NP_067632.2	Q9H4Q4	PRD12_HUMAN	PR domain containing 12	25					neurogenesis (GO:0022008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)		OV - Ovarian serous cystadenocarcinoma(145;0.000344)		TGGCGCTGGCCGAGGTTATCA	0.706																																						ENST00000253008.2																			0				kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(73-75)gcC>gcT		PR domain containing 12							16.0	15.0	16.0					9																	133540115		2158	4202	6360	SO:0001819	synonymous_variant	59335				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:133540115C>T	AY004252	CCDS6934.1	9q33-q34	2013-01-08			ENSG00000130711	ENSG00000130711		"""Zinc fingers, C2H2-type"""	13997	protein-coding gene	gene with protein product	"""PR-domain containing protein 12"", ""PR-domain zinc finger protein 12"""					14523459	Standard	NM_021619		Approved		uc004bzt.1	Q9H4Q4	OTTHUMG00000020808	ENST00000253008.2:c.75C>T	9.37:g.133540115C>T							p.A25A	NM_021619.2	NP_067632.2	Q9H4Q4	PRD12_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000344)	1	135	+		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)	25					A3KFK9	Silent	SNP	ENST00000253008.2	37	c.75C>T	CCDS6934.1																																																																																				0.706	PRDM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054664.1	NM_021619		6	20	0	0	0	1	0	6	20				
MTMR8	55613	broad.mit.edu	37	X	63548721	63548721	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chrX:63548721C>A	ENST00000374852.3	-	12	1479	c.1412G>T	c.(1411-1413)aGg>aTg	p.R471M	MTMR8_ENST00000453546.1_Intron|MTMR8_ENST00000478487.1_5'Flank	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	471	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.					nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)	p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						GAGAGGGTTCCTGAAGTCTGG	0.388																																						ENST00000374852.3																			1	Whole gene deletion(1)	p.0?(1)	ovary(1)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						c.(1411-1413)aGg>aTg		myotubularin related protein 8							110.0	96.0	101.0					X																	63548721		2203	4300	6503	SO:0001583	missense	55613					nuclear envelope	protein tyrosine phosphatase activity	g.chrX:63548721C>A	AK000133	CCDS14379.1	Xq11.2-q12	2013-01-11			ENSG00000102043	ENSG00000102043		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	16825	protein-coding gene	gene with protein product						11275328	Standard	NM_017677		Approved	FLJ20126	uc004dvs.3	Q96EF0	OTTHUMG00000021707	ENST00000374852.3:c.1412G>T	X.37:g.63548721C>A	ENSP00000363985:p.Arg471Met					MTMR8_ENST00000453546.1_Intron	p.R471M	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN			12	1479	-			471			Myotubularin phosphatase.		Q5JT99|Q9NXP6	Missense_Mutation	SNP	ENST00000374852.3	37	c.1412G>T	CCDS14379.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.520|6.520	0.464112|0.464112	0.12402|0.12402	.|.	.|.	ENSG00000102043|ENSG00000102043	ENST00000442913|ENST00000374852;ENST00000247400	.|D	.|0.90197	.|-2.63	2.93|2.93	0.953|0.953	0.19590|0.19590	.|Myotubularin phosphatase domain (1);	.|0.000000	.|0.44902	.|U	.|0.000414	T|T	0.80737|0.80737	0.4680|0.4680	L|L	0.28776|0.28776	0.89|0.89	0.80722|0.80722	D|D	1|1	.|B	.|0.10296	.|0.003	.|B	.|0.14578	.|0.011	T|T	0.65113|0.65113	-0.6247|-0.6247	5|10	.|0.30854	.|T	.|0.27	.|.	4.3978|4.3978	0.11372|0.11372	0.3827:0.4972:0.0:0.1201|0.3827:0.4972:0.0:0.1201	.|.	.|471	.|Q96EF0	.|MTMR8_HUMAN	H|M	274|471;357	.|ENSP00000363985:R471M	.|ENSP00000247400:R357M	Q|R	-|-	3|2	2|0	MTMR8|MTMR8	63465446|63465446	0.929000|0.929000	0.31497|0.31497	0.999000|0.999000	0.59377|0.59377	0.994000|0.994000	0.84299|0.84299	-0.120000|-0.120000	0.10660|0.10660	-0.007000|-0.007000	0.14345|0.14345	0.506000|0.506000	0.49869|0.49869	CAG|AGG		0.388	MTMR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056949.2	NM_017677		14	9	1	0	1.52009e-12	1	1.64916e-12	14	9				
VPS13A	23230	broad.mit.edu	37	9	79852968	79852968	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr9:79852968C>A	ENST00000360280.3	+	18	1906	c.1646C>A	c.(1645-1647)tCa>tAa	p.S549*	VPS13A_ENST00000376634.4_Nonsense_Mutation_p.S549*|VPS13A_ENST00000357409.5_Nonsense_Mutation_p.S549*|VPS13A_ENST00000376636.3_Nonsense_Mutation_p.S549*	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	549					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CCAGATAATTCAGAAAAACCC	0.328																																						ENST00000360280.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(1645-1647)tCa>tAa		vacuolar protein sorting 13 homolog A (S. cerevisiae)							64.0	69.0	67.0					9																	79852968		2203	4298	6501	SO:0001587	stop_gained	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79852968C>A	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.1646C>A	9.37:g.79852968C>A	ENSP00000353422:p.Ser549*					VPS13A_ENST00000376636.3_Nonsense_Mutation_p.S549*|VPS13A_ENST00000376634.4_Nonsense_Mutation_p.S549*|VPS13A_ENST00000357409.5_Nonsense_Mutation_p.S549*	p.S549*	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN			18	1906	+			549					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Nonsense_Mutation	SNP	ENST00000360280.3	37	c.1646C>A	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	C	37	6.223377	0.97390	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	.	.	.	5.21	-4.12	0.03916	.	1.146860	0.06525	N	0.740383	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	.	6.61	0.22747	0.1111:0.4269:0.0:0.4621	.	.	.	.	X	549	.	ENSP00000349985:S549X	S	+	2	0	VPS13A	79042788	0.000000	0.05858	0.003000	0.11579	0.943000	0.58893	-0.036000	0.12185	-0.469000	0.06911	0.585000	0.79938	TCA		0.328	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		9	44	1	0	0.335167	1	0.338107	9	44				
C2orf54	79919	broad.mit.edu	37	2	241835040	241835040	+	Silent	SNP	G	G	A			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr2:241835040G>A	ENST00000388934.4	-	1	533	c.375C>T	c.(373-375)acC>acT	p.T125T		NM_001085437.1	NP_001078906	Q08AI8	CB054_HUMAN	chromosome 2 open reading frame 54	125										haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		AGGTATCCTCGGTGGTCCACC	0.617																																						ENST00000388934.4																			0				haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6						c.(373-375)acC>acT		chromosome 2 open reading frame 54							37.0	42.0	40.0					2																	241835040		2105	4218	6323	SO:0001819	synonymous_variant	79919							g.chr2:241835040G>A	AK026324, AK056601	CCDS42839.1, CCDS42840.1, CCDS63187.1	2q37.3	2011-02-23			ENSG00000172478	ENSG00000172478			26216	protein-coding gene	gene with protein product							Standard	NM_001282921		Approved	FLJ22671	uc002wae.4	Q08AI8	OTTHUMG00000151906	ENST00000388934.4:c.375C>T	2.37:g.241835040G>A							p.T125T	NM_001085437.1	NP_001078906.1	Q08AI8	CB054_HUMAN		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	1	533	-		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	125					B3KPP9|H7BXM3|Q08AI9|Q53QU5|Q9H622	Silent	SNP	ENST00000388934.4	37	c.375C>T	CCDS42839.1																																																																																				0.617	C2orf54-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324353.1	NM_024861, NM_001085437		7	27	0	0	0	1	0	7	27				
CPZ	8532	broad.mit.edu	37	4	8607830	8607830	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr4:8607830G>A	ENST00000360986.4	+	5	998	c.824G>A	c.(823-825)cGc>cAc	p.R275H	CPZ_ENST00000429646.2_5'UTR|CPZ_ENST00000315782.6_Missense_Mutation_p.R264H|CPZ_ENST00000382480.2_Missense_Mutation_p.R138H	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	275					proteolysis (GO:0006508)|Wnt signaling pathway (GO:0016055)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GGTAACCCCCGCATCCAGCGC	0.617																																						ENST00000382480.2																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(412-414)cGc>cAc		carboxypeptidase Z							133.0	97.0	109.0					4																	8607830		2203	4300	6503	SO:0001583	missense	8532				proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	g.chr4:8607830G>A	U83411	CCDS3404.1, CCDS33953.1, CCDS43212.1	4p16.1	2012-02-10			ENSG00000109625	ENSG00000109625			2333	protein-coding gene	gene with protein product	"""metallocarboxypeptidase Z"""	603105				9099699	Standard	NM_001014447		Approved		uc003glm.3	Q66K79	OTTHUMG00000090513	ENST00000360986.4:c.824G>A	4.37:g.8607830G>A	ENSP00000354255:p.Arg275His					CPZ_ENST00000429646.2_5'UTR|CPZ_ENST00000315782.6_Missense_Mutation_p.R264H|CPZ_ENST00000360986.4_Missense_Mutation_p.R275H	p.R138H	NM_001014448.2	NP_001014448.1	Q66K79	CBPZ_HUMAN			5	1213	+			275			FZ.		O00520|Q96MX2	Missense_Mutation	SNP	ENST00000360986.4	37	c.413G>A	CCDS33953.1	.	.	.	.	.	.	.	.	.	.	g	27.8	4.862942	0.91511	.	.	ENSG00000109625	ENST00000360986;ENST00000382480;ENST00000315782	T;T;T	0.11495	2.77;2.77;2.77	3.41	3.41	0.39046	Peptidase M14, carboxypeptidase A (1);	0.151856	0.43416	U	0.000572	T	0.41488	0.1161	M	0.92459	3.31	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75484	0.948;0.986	T	0.59440	-0.7454	10	0.87932	D	0	-25.2668	14.9821	0.71319	0.0:0.0:1.0:0.0	.	264;275	Q66K79-2;Q66K79	.;CBPZ_HUMAN	H	275;138;264	ENSP00000354255:R275H;ENSP00000371920:R138H;ENSP00000315074:R264H	ENSP00000315074:R264H	R	+	2	0	CPZ	8658730	1.000000	0.71417	0.961000	0.40146	0.910000	0.53928	6.594000	0.74104	1.750000	0.51863	0.461000	0.40582	CGC		0.617	CPZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207001.4	NM_003652		10	48	0	0	0	1	0	10	48				
TBC1D8B	54885	broad.mit.edu	37	X	106066678	106066678	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chrX:106066678C>T	ENST00000357242.5	+	5	983	c.809C>T	c.(808-810)cCt>cTt	p.P270L	TBC1D8B_ENST00000276175.3_Missense_Mutation_p.P270L|TBC1D8B_ENST00000310452.2_Missense_Mutation_p.P270L|TBC1D8B_ENST00000481617.2_Missense_Mutation_p.P270L	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	270							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CTTTATAATCCTCTACAGATC	0.308																																						ENST00000357242.5																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(808-810)cCt>cTt		TBC1 domain family, member 8B (with GRAM domain)							85.0	88.0	87.0					X																	106066678		2203	4300	6503	SO:0001583	missense	54885					intracellular	calcium ion binding|Rab GTPase activator activity	g.chrX:106066678C>T	AK123957	CCDS14522.1, CCDS14523.1	Xq22.3	2013-01-10			ENSG00000133138	ENSG00000133138		"""EF-hand domain containing"""	24715	protein-coding gene	gene with protein product						8889548	Standard	NM_017752		Approved	FLJ20298, RP11-321G1.1	uc004emo.3	Q0IIM8	OTTHUMG00000022152	ENST00000357242.5:c.809C>T	X.37:g.106066678C>T	ENSP00000349781:p.Pro270Leu					TBC1D8B_ENST00000276175.3_Missense_Mutation_p.P270L|TBC1D8B_ENST00000481617.2_Missense_Mutation_p.P270L|TBC1D8B_ENST00000310452.2_Missense_Mutation_p.P270L	p.P270L	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN			5	983	+			270					B9A6K5|B9A6K6|Q5JRB7|Q6ZVX5|Q9NXE3	Missense_Mutation	SNP	ENST00000357242.5	37	c.809C>T	CCDS14522.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.333392	0.81801	.	.	ENSG00000133138	ENST00000357242;ENST00000310452;ENST00000481617;ENST00000276175	T;T;T;T	0.25085	2.92;2.37;1.82;2.95	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.49064	0.1535	M	0.64170	1.965	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.998;0.978;0.997	T	0.34104	-0.9842	10	0.34782	T	0.22	-14.2024	17.1413	0.86754	0.0:1.0:0.0:0.0	.	270;270;270	Q0IIM8;B9A6K6;D6RFZ2	TBC8B_HUMAN;.;.	L	270	ENSP00000349781:P270L;ENSP00000310675:P270L;ENSP00000421375:P270L;ENSP00000276175:P270L	ENSP00000276175:P270L	P	+	2	0	TBC1D8B	105953334	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	7.487000	0.81328	2.364000	0.80123	0.538000	0.68166	CCT		0.308	TBC1D8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057807.2	NM_017752		18	19	0	0	0	1	0	18	19				
KDM5A	5927	broad.mit.edu	37	12	422318	422318	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr12:422318T>A	ENST00000399788.2	-	20	3302	c.2940A>T	c.(2938-2940)gaA>gaT	p.E980D	KDM5A_ENST00000382815.4_Missense_Mutation_p.E980D	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	980					chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						TGTTCTTGGCTTCATTCACAA	0.398			T	NUP98	AML																																	ENST00000399788.2				Dom	yes		12	12p11	5927	T	"""lysine (K)-specific demethylase 5A, JARID1A"""			L	NUP98		AML		0				NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						c.(2938-2940)gaA>gaT		lysine (K)-specific demethylase 5A							127.0	119.0	122.0					12																	422318		1905	4109	6014	SO:0001583	missense	5927				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:422318T>A		CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	9886	protein-coding gene	gene with protein product		180202	"""retinoblastoma-binding protein 2"", ""Jumonji, AT rich interactive domain 1A (RBBP2-like)"", ""jumonji, AT rich interactive domain 1A"""	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.2940A>T	12.37:g.422318T>A	ENSP00000382688:p.Glu980Asp					KDM5A_ENST00000382815.4_Missense_Mutation_p.E980D	p.E980D	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN			20	3302	-			980					A8MV76|Q4LE72|Q86XZ1	Missense_Mutation	SNP	ENST00000399788.2	37	c.2940A>T	CCDS41736.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.174432	0.78452	.	.	ENSG00000073614	ENST00000261253;ENST00000399787;ENST00000399788;ENST00000382815;ENST00000544760	T;T;T	0.50277	0.75;0.75;0.75	5.5	5.5	0.81552	Lysine-specific demethylase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.67458	0.2895	M	0.79011	2.435	0.45427	D	0.998404	D;P;D	0.76494	0.984;0.771;0.999	D;P;D	0.73380	0.951;0.74;0.98	T	0.71784	-0.4488	10	0.87932	D	0	-23.5656	11.7916	0.52073	0.0:0.0708:0.0:0.9292	.	980;980;980	F5H1F7;P29375;P29375-2	.;KDM5A_HUMAN;.	D	599;939;980;980;599	ENSP00000382688:E980D;ENSP00000372265:E980D;ENSP00000440622:E599D	ENSP00000261253:E599D	E	-	3	2	KDM5A	292579	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.014000	0.40951	2.209000	0.71365	0.460000	0.39030	GAA		0.398	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1	NM_005056		21	45	0	0	0	1	0	21	45				
MAFA	389692	broad.mit.edu	37	8	144511954	144511959	+	In_Frame_Del	DEL	TGGTGG	TGGTGG	-	rs552049497|rs141816879		TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr8:144511954_144511959delTGGTGG	ENST00000333480.2	-	1	617_622	c.618_623delCCACCA	c.(616-624)caccaccat>cat	p.206_208HHH>H	MAFA_ENST00000528185.1_5'UTR	NM_201589.3	NP_963883.2	Q8NHW3	MAFA_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog A	206	His-rich.				insulin secretion (GO:0030073)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to glucose (GO:0009749)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H208delH(3)		breast(1)|lung(1)|upper_aerodigestive_tract(2)	4	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.237)			CGCGCCGCCAtggtggtggtggtggt	0.748										HNSCC(29;0.082)																												ENST00000333480.2																			3	Deletion - In frame(3)	p.H208delH(3)	upper_aerodigestive_tract(2)|breast(1)	breast(1)|lung(1)|upper_aerodigestive_tract(2)	4						c.(616-624)cat>ca		v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog A																																				SO:0001651	inframe_deletion	389692				insulin secretion|nitric oxide mediated signal transduction|response to glucose stimulus	nucleus	protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr8:144511954_144511959delTGGTGG	AY083269	CCDS34955.1	8q24.3	2013-07-09	2013-07-09			ENSG00000182759			23145	protein-coding gene	gene with protein product		610303					Standard	NM_201589		Approved	RIPE3b1, hMafA	uc003yyc.2	Q8NHW3		ENST00000333480.2:c.618_623delCCACCA	8.37:g.144511960_144511965delTGGTGG	ENSP00000328364:p.His206_His207del	HNSCC(29;0.082)				MAFA_ENST00000528185.1_5'UTR	p.HHH206del	NM_201589.3	NP_963883.2	Q8NHW3	MAFA_HUMAN	Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.237)		1	617_622	-	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		206			His-rich.			In_Frame_Del	DEL	ENST00000333480.2	37	c.618_623delCCACCA	CCDS34955.1																																																																																				0.748	MAFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381511.2	NM_201589		3	3						3	3	---	---	---	---
SERPING1	710	broad.mit.edu	37	11	57365774	57365776	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr11:57365774_57365776delCTG	ENST00000278407.4	+	2	258_260	c.31_33delCTG	c.(31-33)ctgdel	p.L15del	SERPING1_ENST00000378323.4_In_Frame_Del_p.L15del|SERPING1_ENST00000340687.6_In_Frame_Del_p.L15del|SERPING1_ENST00000378324.2_Intron|SERPING1_ENST00000403558.1_In_Frame_Del_p.L49del	NM_000062.2	NP_000053.2	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	15					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|complement activation, classical pathway (GO:0006958)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						GCTGACCCTCCTGCTGCTGCTGC	0.714																																						ENST00000403558.1																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						c.(133-135)del		serpin peptidase inhibitor, clade G (C1 inhibitor), member 1			,	70,4042		1,68,1987					,	0.6	1.0			7	176,7928		6,164,3882	no	coding,coding	SERPING1	NM_001032295.1,NM_000062.2	,	7,232,5869	A1A1,A1R,RR		2.1718,1.7023,2.0138	,	,		246,11970				SO:0001651	inframe_deletion	710				blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity	g.chr11:57365774_57365776delCTG	X54486	CCDS7962.1	11q12.1	2014-09-17	2008-07-31		ENSG00000149131	ENSG00000149131		"""Serine (or cysteine) peptidase inhibitors"""	1228	protein-coding gene	gene with protein product	"""plasma protease C1 inhibitor"", ""angioedema, hereditary"""	606860	"""serine (or cysteine) proteinase inhibitor, clade G (C1 inhibitor), member 1, (angioedema, hereditary)"""	C1NH		2026152, 24172014	Standard	NM_000062		Approved	C1IN, C1-INH, HAE1, HAE2	uc001nkp.1	P05155	OTTHUMG00000150304	ENST00000278407.4:c.31_33delCTG	11.37:g.57365783_57365785delCTG	ENSP00000278407:p.Leu15del					SERPING1_ENST00000278407.4_In_Frame_Del_p.L15del|SERPING1_ENST00000378323.4_In_Frame_Del_p.L15del|SERPING1_ENST00000378324.2_Intron|SERPING1_ENST00000340687.6_In_Frame_Del_p.L15del	p.L49del	NM_001032295.1	NP_001027466.1	P05155	IC1_HUMAN			1	499_501	+			15					A6NMU0|A8KAI9|B2R6L5|B4E1F0|B4E1H2|Q16304|Q547W3|Q59EI5|Q7Z455|Q96FE0|Q9UC49|Q9UCF9	In_Frame_Del	DEL	ENST00000278407.4	37	c.133_135delCTG	CCDS7962.1																																																																																				0.714	SERPING1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317465.1	NM_000062		2	4						2	4	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578519	7578522	+	Frame_Shift_Del	DEL	CAGT	CAGT	-			TCGA-CV-A6JN-01A-11D-A31L-08	TCGA-CV-A6JN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3962cb55-cdba-41bf-8022-d0a64677cc28	bd82bd81-edf5-425e-8dc8-253d48307f99	g.chr17:7578519_7578522delCAGT	ENST00000269305.4	-	5	597_600	c.408_411delACTG	c.(406-411)caactgfs	p.QL136fs	TP53_ENST00000445888.2_Frame_Shift_Del_p.QL136fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.QL136fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.QL136fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Frame_Shift_Del_p.QL136fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.QL136fs	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	136	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Q -> E (in sporadic cancers; somatic mutation).|Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (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.0?(8)|p.L137L(6)|p.Q136H(5)|p.Q136Q(4)|p.A138_P142delAKTCP(4)|p.C135fs*9(3)|p.L137P(3)|p.A138fs*11(3)|p.L137Q(2)|p.L137M(2)|p.N131fs*27(2)|p.L137_W146del10(1)|p.K132_A138delKMFCQLA(1)|p.F134_T140>S(1)|p.A45_P49delAKTCP(1)|p.L137fs*12(1)|p.S127_Q136del10(1)|p.L137fs*33(1)|p.V73fs*9(1)|p.L137_A138insX(1)|p.A6_P10delAKTCP(1)|p.L137V(1)|p.C3fs*9(1)|p.C42fs*9(1)|p.C135_A138delCQLA(1)|p.Q136_K139delQLAK(1)|p.Q136fs*34(1)|p.C135_T140delCQLAKT(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)	AGGTCTTGGCCAGTTGGCAAAACA	0.564		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)	ENST00000420246.2		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"""		59	Substitution - Missense(13)|Deletion - In frame(12)|Deletion - Frameshift(10)|Substitution - coding silent(10)|Whole gene deletion(8)|Insertion - Frameshift(4)|Insertion - In frame(1)|Complex - deletion inframe(1)	p.0?(8)|p.L137L(6)|p.Q136H(5)|p.Q136Q(4)|p.A138_P142delAKTCP(4)|p.C135fs*9(3)|p.L137P(3)|p.A138fs*11(3)|p.L137Q(2)|p.L137M(2)|p.N131fs*27(2)|p.L137_W146del10(1)|p.K132_A138delKMFCQLA(1)|p.F134_T140>S(1)|p.A45_P49delAKTCP(1)|p.L137fs*12(1)|p.S127_Q136del10(1)|p.L137fs*33(1)|p.V73fs*9(1)|p.L137_A138insX(1)|p.A6_P10delAKTCP(1)|p.L137V(1)|p.C3fs*9(1)|p.C42fs*9(1)|p.C135_A138delCQLA(1)|p.Q136_K139delQLAK(1)|p.Q136fs*34(1)|p.C135_T140delCQLAKT(1)	urinary_tract(8)|ovary(6)|large_intestine(5)|haematopoietic_and_lymphoid_tissue(5)|lung(5)|oesophagus(5)|upper_aerodigestive_tract(4)|central_nervous_system(4)|breast(4)|bone(4)|stomach(2)|biliary_tract(2)|prostate(2)|soft_tissue(1)|skin(1)|liver(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	GRCh37	CM064342	TP53	M		c.(406-411)cafs	Other conserved DNA damage response genes	tumor protein p53																																				SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578519_7578522delCAGT	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.408_411delACTG	17.37:g.7578519_7578522delCAGT	ENSP00000269305:p.Gln136fs	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_ENST00000413465.2_Frame_Shift_Del_p.QL136fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.QL136fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.QL136fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.QL136fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.QL136fs	p.QL136fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	540_543	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	136		Q -> E (in sporadic cancers; somatic mutation).|Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.408_411delACTG	CCDS11118.1																																																																																				0.564	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		34	30						34	30	---	---	---	---
