#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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
AHDC1	27245	broad.mit.edu	37	1	27874814	27874814	+	Silent	SNP	C	C	T	rs376593773		TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr1:27874814C>T	ENST00000247087.5	-	5	4409	c.3813G>A	c.(3811-3813)ccG>ccA	p.P1271P	AHDC1_ENST00000374011.2_Silent_p.P1271P			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1271							DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GTCCACCTCGCGGCTGCCGGG	0.677																																						ENST00000374011.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42						c.(3811-3813)ccG>ccA		AT hook, DNA binding motif, containing 1		C		1,4403		0,1,2201	40.0	51.0	48.0		3813	-9.8	0.8	1		48	1,8591		0,1,4295	no	coding-synonymous	AHDC1	NM_001029882.2		0,2,6496	TT,TC,CC		0.0116,0.0227,0.0154		1271/1604	27874814	2,12994	2202	4296	6498	SO:0001819	synonymous_variant	27245						DNA binding	g.chr1:27874814C>T	AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.3813G>A	1.37:g.27874814C>T						AHDC1_ENST00000247087.5_Silent_p.P1271P	p.P1271P	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)	6	4781	-		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1271					Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Silent	SNP	ENST00000247087.5	37	c.3813G>A	CCDS30652.1																																																																																				0.677	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009523.3			29	105	29	105	---	---	---	---
CELSR2	1952	broad.mit.edu	37	1	109803759	109803759	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr1:109803759A>G	ENST00000271332.3	+	3	4115	c.4054A>G	c.(4054-4056)Aag>Gag	p.K1352E		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1352	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GGGCGGTTTCAAGTGCGATTG	0.627																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82						c.(4054-4056)Aag>Gag		cadherin, EGF LAG seven-pass G-type receptor 2							100.0	96.0	98.0					1																	109803759		2203	4300	6503	SO:0001583	missense	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109803759A>G	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.4054A>G	1.37:g.109803759A>G	ENSP00000271332:p.Lys1352Glu						p.K1352E	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	3	4115	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	1352			EGF-like 3; calcium-binding.		Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.4054A>G	CCDS796.1	.	.	.	.	.	.	.	.	.	.	A	16.78	3.217153	0.58560	.	.	ENSG00000143126	ENST00000271332	D	0.87491	-2.26	4.77	4.77	0.60923	Concanavalin A-like lectin/glucanase (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.68778	0.3038	L	0.31664	0.95	0.45477	D	0.99844	P	0.47302	0.893	B	0.39590	0.304	T	0.70099	-0.4965	9	0.24483	T	0.36	.	11.4327	0.50050	0.8384:0.1616:0.0:0.0	.	1352	Q9HCU4	CELR2_HUMAN	E	1352	ENSP00000271332:K1352E	ENSP00000271332:K1352E	K	+	1	0	CELSR2	109605282	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	2.856000	0.48341	2.007000	0.58848	0.459000	0.35465	AAG		0.627	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		34	130	34	130	---	---	---	---
CSDE1	7812	broad.mit.edu	37	1	115262240	115262240	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr1:115262240G>A	ENST00000358528.4	-	18	2602	c.2176C>T	c.(2176-2178)Cgc>Tgc	p.R726C	CSDE1_ENST00000530886.1_Missense_Mutation_p.R596C|NRAS_ENST00000369535.4_5'Flank|CSDE1_ENST00000339438.6_Missense_Mutation_p.R695C|CSDE1_ENST00000261443.5_Missense_Mutation_p.R695C|CSDE1_ENST00000534699.1_Missense_Mutation_p.R726C|CSDE1_ENST00000483407.1_5'Flank|CSDE1_ENST00000438362.2_Missense_Mutation_p.R772C|CSDE1_ENST00000369530.1_Missense_Mutation_p.R741C	NM_001007553.2	NP_001007554.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	726	CSD 9.				male gonad development (GO:0008584)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|regulation of transcription, DNA-templated (GO:0006355)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTGCCAGTGCGCTGATTAAGA	0.453																																						ENST00000438362.2																			0				NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51						c.(2314-2316)Cgc>Tgc		cold shock domain containing E1, RNA-binding							146.0	146.0	146.0					1																	115262240		2203	4300	6503	SO:0001583	missense	7812				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding	g.chr1:115262240G>A		CCDS30811.1, CCDS30812.1, CCDS44197.1, CCDS55626.1	1p13.2	2011-11-02			ENSG00000009307	ENSG00000009307			29905	protein-coding gene	gene with protein product	"""upstream of NRAS"""	191510				2204029, 10048485	Standard	NM_007158		Approved	D1S155E, UNR	uc001efi.3	O75534	OTTHUMG00000012060	ENST00000358528.4:c.2176C>T	1.37:g.115262240G>A	ENSP00000351329:p.Arg726Cys					CSDE1_ENST00000339438.6_Missense_Mutation_p.R695C|CSDE1_ENST00000534699.1_Missense_Mutation_p.R726C|CSDE1_ENST00000530886.1_Missense_Mutation_p.R596C|CSDE1_ENST00000369530.1_Missense_Mutation_p.R741C|CSDE1_ENST00000261443.5_Missense_Mutation_p.R695C|CSDE1_ENST00000358528.4_Missense_Mutation_p.R726C	p.R772C	NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	18	2692	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	726					A8K281|E9PGZ0|G5E9Q2|O94961|Q5TF04|Q5TF05|Q68DF1|Q68DI9|Q9Y2S4	Missense_Mutation	SNP	ENST00000358528.4	37	c.2314C>T	CCDS30812.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.933538	0.73442	.	.	ENSG00000009307	ENST00000339438;ENST00000438362;ENST00000358528;ENST00000261443;ENST00000530886;ENST00000369530;ENST00000534699	.	.	.	6.17	5.26	0.73747	Cold shock protein (1);Nucleic acid-binding, OB-fold-like (1);Cold-shock protein, DNA-binding (1);Nucleic acid-binding, OB-fold (1);	0.092767	0.85682	D	0.000000	T	0.62319	0.2418	M	0.87328	2.875	0.80722	D	1	B;B;B	0.18863	0.031;0.003;0.003	B;B;B	0.12837	0.008;0.005;0.003	T	0.68150	-0.5485	9	0.87932	D	0	-1.1453	15.7894	0.78343	0.065:0.0:0.935:0.0	.	741;726;772	E9PGZ0;O75534;G5E9Q2	.;CSDE1_HUMAN;.	C	695;772;726;695;596;741;726	.	ENSP00000261443:R695C	R	-	1	0	CSDE1	115063763	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.405000	0.97313	1.626000	0.50381	0.655000	0.94253	CGC		0.453	CSDE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033397.1	NM_007158		7	101	7	101	---	---	---	---
KIAA1614	57710	broad.mit.edu	37	1	180885314	180885314	+	Silent	SNP	A	A	G			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr1:180885314A>G	ENST00000367588.4	+	2	130	c.75A>G	c.(73-75)acA>acG	p.T25T		NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	25										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						GGAGTGGAACAGCCAGCCCCG	0.617																																						ENST00000367588.4																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						c.(73-75)acA>acG		KIAA1614							23.0	27.0	26.0					1																	180885314		1914	4118	6032	SO:0001819	synonymous_variant	57710							g.chr1:180885314A>G	AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.75A>G	1.37:g.180885314A>G							p.T25T	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN			2	130	+			25					Q5VZ45|Q9HCF8	Silent	SNP	ENST00000367588.4	37	c.75A>G	CCDS41442.1																																																																																				0.617	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085151.1	XM_046531		11	52	11	52	---	---	---	---
TRIP12	9320	broad.mit.edu	37	2	230724288	230724288	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr2:230724288C>A	ENST00000283943.5	-	3	279	c.101G>T	c.(100-102)aGc>aTc	p.S34I	TRIP12_ENST00000543084.1_Missense_Mutation_p.S76I|TRIP12_ENST00000409677.1_Missense_Mutation_p.S76I|TRIP12_ENST00000389044.4_Missense_Mutation_p.S76I|TRIP12_ENST00000389045.3_Intron	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	34					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		TGAACTGCAGCTTCTAAGAGG	0.373																																						ENST00000283943.5																			0				breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(100-102)aGc>aTc		thyroid hormone receptor interactor 12							109.0	117.0	114.0					2																	230724288		2203	4300	6503	SO:0001583	missense	9320				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	g.chr2:230724288C>A	L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.101G>T	2.37:g.230724288C>A	ENSP00000283943:p.Ser34Ile					TRIP12_ENST00000409677.1_Missense_Mutation_p.S76I|TRIP12_ENST00000389044.4_Missense_Mutation_p.S76I|TRIP12_ENST00000543084.1_Missense_Mutation_p.S76I|TRIP12_ENST00000389045.3_Intron	p.S34I	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	3	279	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	34					D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation	SNP	ENST00000283943.5	37	c.101G>T	CCDS33391.1	.	.	.	.	.	.	.	.	.	.	C	18.55	3.648060	0.67358	.	.	ENSG00000153827	ENST00000283943;ENST00000389044;ENST00000543084;ENST00000409677;ENST00000435716;ENST00000428959;ENST00000430954;ENST00000343290	T;T	0.52295	0.67;0.73	5.76	5.76	0.90799	.	0.330864	0.26377	U	0.024727	T	0.36799	0.0980	N	0.14661	0.345	0.30788	N	0.741214	B;B;B	0.32693	0.38;0.145;0.145	B;B;B	0.31812	0.136;0.085;0.046	T	0.45160	-0.9280	10	0.66056	D	0.02	.	19.9561	0.97218	0.0:1.0:0.0:0.0	.	34;76;34	D4HL82;Q14CA3;Q14669	.;.;TRIPC_HUMAN	I	34;76;76;76;34;34;76;34	ENSP00000283943:S34I;ENSP00000373696:S76I	ENSP00000283943:S34I	S	-	2	0	TRIP12	230432532	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.479000	0.60236	2.725000	0.93324	0.591000	0.81541	AGC		0.373	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238		4	118	4	118	---	---	---	---
BCL6	604	broad.mit.edu	37	3	187447232	187447232	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr3:187447232C>T	ENST00000406870.2	-	5	1327	c.961G>A	c.(961-963)Gca>Aca	p.A321T	RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000450123.2_Missense_Mutation_p.A321T|RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000232014.4_Missense_Mutation_p.A321T	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	321					actin cytoskeleton organization (GO:0030036)|B cell differentiation (GO:0030183)|cell morphogenesis (GO:0000902)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte development (GO:0048821)|germinal center formation (GO:0002467)|inflammatory response (GO:0006954)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cellular component movement (GO:0051272)|protein import into nucleus, translocation (GO:0000060)|regulation of germinal center formation (GO:0002634)|regulation of immune response (GO:0050776)|regulation of inflammatory response (GO:0050727)|regulation of memory T cell differentiation (GO:0043380)|regulation of Rho GTPase activity (GO:0032319)|Rho protein signal transduction (GO:0007266)|spermatogenesis (GO:0007283)|type 2 immune response (GO:0042092)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		TTCAGGGGTGCATTGGGGGGC	0.572			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""																																	ENST00000406870.2				Dom	yes		3	3q27	604	"""T, Mis"""	B-cell CLL/lymphoma 6			L	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""		"""NHL, CLL"""		0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40						c.(961-963)Gca>Aca		B-cell CLL/lymphoma 6							86.0	101.0	96.0					3																	187447232		2203	4300	6503	SO:0001583	missense	604				negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:187447232C>T		CCDS3289.1, CCDS46975.1	3q27	2013-01-09	2008-08-01		ENSG00000113916	ENSG00000113916		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	1001	protein-coding gene	gene with protein product		109565	"""zinc finger protein 51"""	ZNF51			Standard	NM_001130845		Approved	ZBTB27, LAZ3, BCL5, BCL6A	uc003frq.2	P41182	OTTHUMG00000156441	ENST00000406870.2:c.961G>A	3.37:g.187447232C>T	ENSP00000384371:p.Ala321Thr					RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000450123.2_Missense_Mutation_p.A321T|BCL6_ENST00000232014.4_Missense_Mutation_p.A321T|RP11-211G3.3_ENST00000437407.1_Intron	p.A321T	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)	5	1327	-	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		321					A7E241|B8PSA7|D3DNV5	Missense_Mutation	SNP	ENST00000406870.2	37	c.961G>A	CCDS3289.1	.	.	.	.	.	.	.	.	.	.	C	8.337	0.827834	0.16749	.	.	ENSG00000113916	ENST00000406870;ENST00000232014;ENST00000450123	T;T;T	0.07567	3.18;3.18;3.19	5.48	5.48	0.80851	.	0.097709	0.64402	D	0.000001	T	0.03871	0.0109	N	0.08118	0	0.33969	D	0.646595	B;B	0.13145	0.005;0.007	B;B	0.12156	0.003;0.007	T	0.38001	-0.9681	10	0.15066	T	0.55	.	7.0909	0.25283	0.1732:0.7373:0.0:0.0895	.	321;321	B8PSA7;P41182	.;BCL6_HUMAN	T	321	ENSP00000384371:A321T;ENSP00000232014:A321T;ENSP00000413122:A321T	ENSP00000232014:A321T	A	-	1	0	BCL6	188929926	1.000000	0.71417	0.992000	0.48379	0.980000	0.70556	2.804000	0.47931	2.747000	0.94245	0.462000	0.41574	GCA		0.572	BCL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344202.1	NM_138931		8	131	8	131	---	---	---	---
TMEM192	201931	broad.mit.edu	37	4	166009709	166009709	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr4:166009709G>A	ENST00000306480.6	-	4	630	c.485C>T	c.(484-486)cCa>cTa	p.P162L	TMEM192_ENST00000506087.1_Missense_Mutation_p.P158L	NM_001100389.1	NP_001093859.1	Q8IY95	TM192_HUMAN	transmembrane protein 192	162						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)	protein homodimerization activity (GO:0042803)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0926)		GCCAGGCTCTGGGAAGGAGTG	0.453																																						ENST00000306480.6																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7						c.(484-486)cCa>cTa		transmembrane protein 192							96.0	98.0	97.0					4																	166009709		2017	4192	6209	SO:0001583	missense	201931					Golgi apparatus|integral to membrane|late endosome|lysosomal membrane|nucleus		g.chr4:166009709G>A	BC036301	CCDS43279.1	4q32.3	2008-04-22			ENSG00000170088	ENSG00000170088			26775	protein-coding gene	gene with protein product						12477932	Standard	NM_001100389		Approved	FLJ38482	uc003iqz.4	Q8IY95	OTTHUMG00000161254	ENST00000306480.6:c.485C>T	4.37:g.166009709G>A	ENSP00000305069:p.Pro162Leu					TMEM192_ENST00000506087.1_Missense_Mutation_p.P158L	p.P162L	NM_001100389.1	NP_001093859.1	Q8IY95	TM192_HUMAN		GBM - Glioblastoma multiforme(119;0.0926)	4	630	-	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)						Q7Z3A1|Q8N928	Missense_Mutation	SNP	ENST00000306480.6	37	c.485C>T	CCDS43279.1	.	.	.	.	.	.	.	.	.	.	G	17.22	3.333377	0.60853	.	.	ENSG00000170088	ENST00000306480;ENST00000506087;ENST00000505095	.	.	.	5.43	5.43	0.79202	.	0.118367	0.64402	D	0.000019	T	0.77405	0.4125	M	0.73598	2.24	0.50813	D	0.999894	D	0.67145	0.996	P	0.62089	0.898	T	0.76958	-0.2766	9	0.44086	T	0.13	-38.6905	18.1655	0.89724	0.0:0.0:1.0:0.0	.	162	Q8IY95	TM192_HUMAN	L	162;158;21	.	ENSP00000305069:P162L	P	-	2	0	TMEM192	166229159	1.000000	0.71417	0.926000	0.36857	0.008000	0.06430	5.627000	0.67784	2.708000	0.92522	0.655000	0.94253	CCA		0.453	TMEM192-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364310.3	NM_152681		4	27	4	27	---	---	---	---
ADAMTS19	171019	broad.mit.edu	37	5	129037257	129037257	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr5:129037257C>A	ENST00000274487.4	+	20	3258	c.3113C>A	c.(3112-3114)aCc>aAc	p.T1038N	CTC-575N7.1_ENST00000503616.1_RNA|ADAMTS19_ENST00000509467.1_3'UTR	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	1038						proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GACTGCATGACCGTGTGGGAG	0.567																																						ENST00000274487.4																			0				NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91						c.(3112-3114)aCc>aAc		ADAM metallopeptidase with thrombospondin type 1 motif, 19							75.0	69.0	71.0					5																	129037257		2203	4300	6503	SO:0001583	missense	171019				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:129037257C>A	AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.3113C>A	5.37:g.129037257C>A	ENSP00000274487:p.Thr1038Asn					ADAMTS19_ENST00000509467.1_3'UTR|CTC-575N7.1_ENST00000503616.1_RNA	p.T1038N	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)	20	3258	+		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	1038						Missense_Mutation	SNP	ENST00000274487.4	37	c.3113C>A	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.046707	0.75846	.	.	ENSG00000145808	ENST00000274487	T	0.18338	2.22	4.0	4.0	0.46444	.	0.000000	0.64402	D	0.000006	T	0.18551	0.0445	L	0.38175	1.15	0.58432	D	0.999996	P	0.44627	0.839	P	0.44394	0.448	T	0.02925	-1.1093	9	.	.	.	.	17.4141	0.87495	0.0:1.0:0.0:0.0	.	1038	Q8TE59	ATS19_HUMAN	N	1038	ENSP00000274487:T1038N	.	T	+	2	0	ADAMTS19	129065156	1.000000	0.71417	0.955000	0.39395	0.996000	0.88848	5.891000	0.69782	2.526000	0.85167	0.650000	0.86243	ACC		0.567	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		14	85	14	85	---	---	---	---
SLC22A4	6583	broad.mit.edu	37	5	131630515	131630515	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr5:131630515T>A	ENST00000200652.3	+	1	380	c.206T>A	c.(205-207)cTg>cAg	p.L69Q	P4HA2_ENST00000471826.1_Intron	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	solute carrier family 22 (organic cation/zwitterion transporter), member 4	69					body fluid secretion (GO:0007589)|carnitine metabolic process (GO:0009437)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cation transmembrane transport (GO:0098655)|organic cation transport (GO:0015695)|quaternary ammonium group transport (GO:0015697)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|triglyceride metabolic process (GO:0006641)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|cation:cation antiporter activity (GO:0015491)|nucleotide binding (GO:0000166)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|secondary active organic cation transmembrane transporter activity (GO:0008513)|symporter activity (GO:0015293)			endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Amiloride(DB00594)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Desipramine(DB01151)|Guanidine(DB00536)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|L-Lysine(DB00123)|Levofloxacin(DB01137)|Mepyramine(DB06691)|Nicotine(DB00184)|Ofloxacin(DB01165)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Spermine(DB00127)|Testosterone(DB00624)|Tiotropium(DB01409)|Verapamil(DB00661)	AGTGTCCCGCTGCGGCTGCGG	0.726																																						ENST00000200652.3																			0				endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16						c.(205-207)cTg>cAg		solute carrier family 22 (organic cation/zwitterion transporter), member 4	L-Carnitine(DB00583)						16.0	21.0	19.0					5																	131630515		2198	4286	6484	SO:0001583	missense	6583				body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity	g.chr5:131630515T>A	AB007448	CCDS4153.1	5q23.3	2013-07-18	2013-07-18		ENSG00000197208	ENSG00000197208		"""Solute carriers"""	10968	protein-coding gene	gene with protein product		604190	"""solute carrier family 22 (organic cation/ergothioneine transporter), member 4"""			9426230, 15795384	Standard	NM_003059		Approved	OCTN1, MGC34546	uc003kwq.3	Q9H015	OTTHUMG00000059648	ENST00000200652.3:c.206T>A	5.37:g.131630515T>A	ENSP00000200652:p.Leu69Gln					P4HA2_ENST00000471826.1_Intron	p.L69Q	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		1	380	+		all_cancers(142;0.0752)|Breast(839;0.198)	69					O14546	Missense_Mutation	SNP	ENST00000200652.3	37	c.206T>A	CCDS4153.1	.	.	.	.	.	.	.	.	.	.	T	13.45	2.240128	0.39598	.	.	ENSG00000197208	ENST00000200652	T	0.75938	-0.98	4.54	3.33	0.38152	Major facilitator superfamily domain, general substrate transporter (1);	0.770532	0.11770	N	0.531169	T	0.70692	0.3253	M	0.69463	2.115	0.22762	N	0.998766	B	0.22683	0.073	B	0.22601	0.04	T	0.57768	-0.7754	10	0.27785	T	0.31	.	10.1861	0.42998	0.0:0.0:0.1672:0.8328	.	69	Q9H015	S22A4_HUMAN	Q	69	ENSP00000200652:L69Q	ENSP00000200652:L69Q	L	+	2	0	SLC22A4	131658414	0.006000	0.16342	0.812000	0.32479	0.976000	0.68499	0.009000	0.13219	0.831000	0.34780	0.459000	0.35465	CTG		0.726	SLC22A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132661.1	NM_003059		8	15	8	15	---	---	---	---
PCDHA6	56142	broad.mit.edu	37	5	140208013	140208013	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr5:140208013C>A	ENST00000529310.1	+	1	451	c.337C>A	c.(337-339)Ccg>Acg	p.P113T	PCDHA6_ENST00000527624.1_Missense_Mutation_p.P113T|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	113	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGGACAGGCCGCTGCAGGT	0.562																																						ENST00000529310.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						c.(337-339)Ccg>Acg									112.0	123.0	120.0					5																	140208013		2203	4298	6501	SO:0001583	missense	56142							g.chr5:140208013C>A	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.337C>A	5.37:g.140208013C>A	ENSP00000433378:p.Pro113Thr					PCDHA6_ENST00000527624.1_Missense_Mutation_p.P113T|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron	p.P113T	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	451	+								O75283|Q9NRT8	Missense_Mutation	SNP	ENST00000529310.1	37	c.337C>A	CCDS47281.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.028464	0.75390	.	.	ENSG00000081842	ENST00000529310;ENST00000527624	T;T	0.56103	0.58;0.48	3.87	3.87	0.44632	Cadherin (3);Cadherin-like (1);	0.000000	0.36591	U	0.002518	T	0.78923	0.4360	M	0.93939	3.475	0.43793	D	0.996339	D;D;D	0.89917	1.0;1.0;0.993	D;D;D	0.80764	0.994;0.993;0.955	D	0.85512	0.1198	10	0.62326	D	0.03	.	16.3488	0.83191	0.0:1.0:0.0:0.0	.	113;113;113	Q9UN73-3;Q9UN73;Q9UN73-2	.;PCDA6_HUMAN;.	T	113	ENSP00000433378:P113T;ENSP00000434113:P113T	ENSP00000434113:P113T	P	+	1	0	PCDHA6	140188197	0.998000	0.40836	0.998000	0.56505	0.967000	0.64934	4.743000	0.62110	2.139000	0.66308	0.313000	0.20887	CCG		0.562	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		22	218	22	218	---	---	---	---
TRIM31	11074	broad.mit.edu	37	6	30071498	30071498	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr6:30071498A>C	ENST00000376734.3	-	9	1218	c.1093T>G	c.(1093-1095)Tcg>Gcg	p.S365A	TRIM31_ENST00000485864.1_5'Flank|TRIM31_ENST00000540829.1_Missense_Mutation_p.S365A|TRIM31-AS1_ENST00000440874.1_RNA	NM_007028.3	NP_008959.3	Q9BZY9	TRI31_HUMAN	tripartite motif containing 31	365					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral release from host cell (GO:1902186)	mitochondrion (GO:0005739)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2)	15						CCAGCAGACGAGGCCCGAAAC	0.527																																						ENST00000376734.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2)	15						c.(1093-1095)Tcg>Gcg		tripartite motif containing 31							128.0	137.0	134.0					6																	30071498		1510	2709	4219	SO:0001583	missense	11074					mitochondrion	ligase activity|zinc ion binding	g.chr6:30071498A>C	AF230386	CCDS34374.1	6p21.3	2013-01-09	2011-01-25		ENSG00000204616	ENSG00000204616		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16289	protein-coding gene	gene with protein product		609316	"""tripartite motif-containing 31"""			11331580	Standard	XM_006714977		Approved	RNF, HCGI, C6orf13, HCG1	uc003npg.1	Q9BZY9	OTTHUMG00000031064	ENST00000376734.3:c.1093T>G	6.37:g.30071498A>C	ENSP00000365924:p.Ser365Ala					TRIM31_ENST00000540829.1_Missense_Mutation_p.S365A	p.S365A	NM_007028.3	NP_008959.3	Q9BZY9	TRI31_HUMAN			9	1218	-			365					A6NLX6|A9R9Q4|Q53H52|Q5RI37|Q5SRJ7|Q5SRJ8|Q5SS28|Q96AK4|Q96AP8|Q99579|Q9BZY8	Missense_Mutation	SNP	ENST00000376734.3	37	c.1093T>G	CCDS34374.1	.	.	.	.	.	.	.	.	.	.	A	6.172	0.399963	0.11696	.	.	ENSG00000204616	ENST00000376734;ENST00000376728;ENST00000540829	T;T	0.66815	-0.23;-0.23	2.25	-2.05	0.07321	.	.	.	.	.	T	0.16854	0.0405	N	0.08118	0	0.09310	N	1	B	0.32409	0.37	B	0.35607	0.206	T	0.22138	-1.0225	9	0.18276	T	0.48	.	2.1743	0.03858	0.4426:0.0:0.317:0.2403	.	365	Q9BZY9	TRI31_HUMAN	A	365	ENSP00000365924:S365A;ENSP00000444311:S365A	ENSP00000365918:S365A	S	-	1	0	TRIM31	30179477	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	0.148000	0.16224	-0.480000	0.06803	0.472000	0.43445	TCG		0.527	TRIM31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076081.2			14	139	14	139	---	---	---	---
MAP3K5	4217	broad.mit.edu	37	6	136990479	136990479	+	Silent	SNP	C	C	A			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr6:136990479C>A	ENST00000359015.4	-	8	1668	c.1308G>T	c.(1306-1308)gcG>gcT	p.A436A		NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	436					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		GGAGGAGGACCGCATAATTAA	0.378																																						ENST00000359015.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58						c.(1306-1308)gcG>gcT		mitogen-activated protein kinase kinase kinase 5							146.0	153.0	151.0					6																	136990479		2203	4300	6503	SO:0001819	synonymous_variant	4217				activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding	g.chr6:136990479C>A	U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6857	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 1"""	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.1308G>T	6.37:g.136990479C>A							p.A436A	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN		GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)	8	1668	-	Colorectal(23;0.24)		436					A6NIA0|B4DGB2|Q5THN3|Q99461	Silent	SNP	ENST00000359015.4	37	c.1308G>T	CCDS5179.1																																																																																				0.378	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042383.1			28	109	28	109	---	---	---	---
TBX20	57057	broad.mit.edu	37	7	35242247	35242247	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr7:35242247G>A	ENST00000408931.3	-	8	1665	c.1139C>T	c.(1138-1140)cCt>cTt	p.P380L		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	380					aortic valve morphogenesis (GO:0003180)|atrial septum morphogenesis (GO:0060413)|blood circulation (GO:0008015)|cardiac chamber formation (GO:0003207)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|dorsal/ventral pattern formation (GO:0009953)|embryonic heart tube elongation (GO:0036306)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cushion formation (GO:0003272)|endocardial cushion morphogenesis (GO:0003203)|endoderm formation (GO:0001706)|foramen ovale closure (GO:0035922)|heart looping (GO:0001947)|lateral mesoderm formation (GO:0048370)|muscle contraction (GO:0006936)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|outflow tract septum morphogenesis (GO:0003148)|patterning of blood vessels (GO:0001569)|pericardium morphogenesis (GO:0003344)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary valve formation (GO:0003193)|pulmonary vein morphogenesis (GO:0060577)|tricuspid valve development (GO:0003175)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						GATGGGGTGAGGAATGGGTGT	0.562																																						ENST00000408931.3																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						c.(1138-1140)cCt>cTt		T-box 20							79.0	80.0	80.0					7																	35242247		1990	4164	6154	SO:0001583	missense	57057					nucleus	DNA binding	g.chr7:35242247G>A	AJ237589	CCDS43568.1	7p14.3	2014-09-17			ENSG00000164532	ENSG00000164532		"""T-boxes"""	11598	protein-coding gene	gene with protein product		606061				10936053	Standard	NM_001077653		Approved		uc011kas.2	Q9UMR3	OTTHUMG00000099411	ENST00000408931.3:c.1139C>T	7.37:g.35242247G>A	ENSP00000386170:p.Pro380Leu						p.P380L	NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN			8	1665	-			380					A4D1Y6|Q000T4|Q0IJ70|Q0VAS1|Q9Y2N5	Missense_Mutation	SNP	ENST00000408931.3	37	c.1139C>T	CCDS43568.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.775571	0.90195	.	.	ENSG00000164532	ENST00000408931	D	0.88046	-2.33	5.46	5.46	0.80206	.	0.055617	0.64402	D	0.000001	T	0.81650	0.4867	L	0.27053	0.805	0.80722	D	1	B	0.27823	0.19	B	0.26310	0.068	T	0.77403	-0.2601	10	0.34782	T	0.22	.	19.3	0.94140	0.0:0.0:1.0:0.0	.	380	Q9UMR3	TBX20_HUMAN	L	380	ENSP00000386170:P380L	ENSP00000386170:P380L	P	-	2	0	TBX20	35208772	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.434000	0.97515	2.548000	0.85928	0.609000	0.83330	CCT		0.562	TBX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216870.2	NM_020417		7	66	7	66	---	---	---	---
PRSS58	136541	broad.mit.edu	37	7	141952337	141952337	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr7:141952337A>T	ENST00000552471.1	-	4	850	c.531T>A	c.(529-531)aaT>aaA	p.N177K	PRSS58_ENST00000547058.2_Missense_Mutation_p.N177K			Q8IYP2	PRS58_HUMAN	protease, serine, 58	177	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						CACACAGCATATTTTCCGTGA	0.448																																						ENST00000552471.1																			0				kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						c.(529-531)aaT>aaA		protease, serine, 58							179.0	162.0	168.0					7																	141952337		2203	4300	6503	SO:0001583	missense	136541				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr7:141952337A>T		CCDS5871.1	7q34	2012-10-03			ENSG00000258223	ENSG00000258223	3.4.21.4	"""Serine peptidases / Serine peptidases"""	39125	protein-coding gene	gene with protein product	"""trypsin X3"""						Standard	NM_001001317		Approved	TRYX3	uc003vxc.4	Q8IYP2	OTTHUMG00000158565	ENST00000552471.1:c.531T>A	7.37:g.141952337A>T	ENSP00000446916:p.Asn177Lys					PRSS58_ENST00000547058.2_Missense_Mutation_p.N177K	p.N177K			Q8IYP2	PRS58_HUMAN			4	850	-			177			Peptidase S1.		B3KVJ6|D3DXD2	Missense_Mutation	SNP	ENST00000552471.1	37	c.531T>A	CCDS5871.1	.	.	.	.	.	.	.	.	.	.	A	17.42	3.384552	0.61845	.	.	ENSG00000258223	ENST00000547058;ENST00000552471	D;D	0.82167	-1.58;-1.58	4.35	-8.0	0.01126	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.81659	0.4869	L	0.55481	1.735	0.20307	N	0.999911	D	0.60575	0.988	P	0.56088	0.791	T	0.77563	-0.2541	9	0.59425	D	0.04	.	7.4421	0.27190	0.6054:0.2321:0.1625:0.0	.	177	Q8IYP2	PRS58_HUMAN	K	177	ENSP00000447588:N177K;ENSP00000446916:N177K	ENSP00000307206:N177K	N	-	3	2	PRSS58	141598815	0.005000	0.15991	0.000000	0.03702	0.120000	0.20174	-0.172000	0.09868	-1.768000	0.01298	-0.408000	0.06270	AAT		0.448	PRSS58-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351328.2	NM_001001317		7	148	7	148	---	---	---	---
DHTKD1	55526	broad.mit.edu	37	10	12148384	12148384	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr10:12148384T>G	ENST00000263035.4	+	11	2098	c.2036T>G	c.(2035-2037)tTc>tGc	p.F679C		NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	679					cell death (GO:0008219)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hematopoietic progenitor cell differentiation (GO:0002244)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			TTTGACACATTCATCTCTGGA	0.537																																						ENST00000263035.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44						c.(2035-2037)tTc>tGc		dehydrogenase E1 and transketolase domain containing 1							206.0	184.0	192.0					10																	12148384		2203	4300	6503	SO:0001583	missense	55526				glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:12148384T>G	BC002477	CCDS7087.1	10p14	2003-11-24			ENSG00000181192	ENSG00000181192			23537	protein-coding gene	gene with protein product		614984				10997877	Standard	NM_018706		Approved	KIAA1630, MGC3090, DKFZP762M115	uc001ild.5	Q96HY7	OTTHUMG00000017677	ENST00000263035.4:c.2036T>G	10.37:g.12148384T>G	ENSP00000263035:p.Phe679Cys						p.F679C	NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	BRCA - Breast invasive adenocarcinoma(52;0.188)		11	2098	+		Renal(717;0.228)	679					Q68CU5|Q9BUM8|Q9HCE2	Missense_Mutation	SNP	ENST00000263035.4	37	c.2036T>G	CCDS7087.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.494511	0.85069	.	.	ENSG00000181192	ENST00000263035	D	0.92397	-3.03	6.01	6.01	0.97437	Transketolase-like, pyrimidine-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.96956	0.9006	H	0.96048	3.76	0.80722	D	1	P	0.37731	0.607	P	0.53224	0.721	D	0.97535	1.0082	10	0.87932	D	0	-14.2657	15.1499	0.72689	0.0:0.0:0.0:1.0	.	679	Q96HY7	DHTK1_HUMAN	C	679	ENSP00000263035:F679C	ENSP00000263035:F679C	F	+	2	0	DHTKD1	12188390	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.236000	0.78154	2.315000	0.78130	0.519000	0.50382	TTC		0.537	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046777.1	NM_018706		13	196	13	196	---	---	---	---
SH3PXD2A	9644	broad.mit.edu	37	10	105361687	105361687	+	Silent	SNP	C	C	A	rs146300680		TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr10:105361687C>A	ENST00000369774.4	-	15	3564	c.3288G>T	c.(3286-3288)gtG>gtT	p.V1096V	SH3PXD2A_ENST00000538130.1_Silent_p.V931V|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000540321.1_Silent_p.V963V|SH3PXD2A_ENST00000355946.2_Silent_p.V1068V|SH3PXD2A_ENST00000315994.6_5'UTR			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	1096	SH3 5. {ECO:0000255|PROSITE- ProRule:PRU00192}.				superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		CCTCCATGGACACCCCCTCCT	0.537																																						ENST00000369774.4																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38						c.(3286-3288)gtG>gtT		SH3 and PX domains 2A							112.0	117.0	115.0					10																	105361687		2203	4300	6503	SO:0001819	synonymous_variant	9644				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding	g.chr10:105361687C>A	AB007878	CCDS31278.1	10q25.1	2006-02-13	2006-02-13	2006-02-13	ENSG00000107957	ENSG00000107957			23664	protein-coding gene	gene with protein product	"""five SH3 domains"""		"""SH3 multiple domains 1"""	SH3MD1		9687503	Standard	XM_005270297		Approved	FISH, KIAA0418	uc001kxj.1	Q5TCZ1	OTTHUMG00000018997	ENST00000369774.4:c.3288G>T	10.37:g.105361687C>A						SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000538130.1_Silent_p.V931V|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000355946.2_Silent_p.V1068V|SH3PXD2A_ENST00000540321.1_Silent_p.V963V	p.V1096V			Q5TCZ1	SPD2A_HUMAN		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)	15	3564	-		Colorectal(252;0.0815)|Breast(234;0.131)	1096			SH3 5.		D3DR98|O43302|Q5TCZ2|Q5TDQ8	Silent	SNP	ENST00000369774.4	37	c.3288G>T		.	.	.	.	.	.	.	.	.	.	C	3.174	-0.169338	0.06461	.	.	ENSG00000107957	ENST00000420222	T	0.29655	1.56	5.39	3.55	0.40652	.	0.116207	0.64402	D	0.000015	T	0.32704	0.0838	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.12451	-1.0547	7	0.52906	T	0.07	-18.6284	2.9755	0.05936	0.1242:0.5384:0.1763:0.1611	.	.	.	.	F	1023	ENSP00000395781:V1023F	ENSP00000395781:V1023F	V	-	1	0	SH3PXD2A	105351677	0.393000	0.25237	1.000000	0.80357	0.921000	0.55340	-0.347000	0.07750	0.660000	0.30964	-0.258000	0.10820	GTC		0.537	SH3PXD2A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050178.1	NM_014631		22	105	22	105	---	---	---	---
FAT3	120114	broad.mit.edu	37	11	92086069	92086069	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr11:92086069C>T	ENST00000298047.6	+	1	808	c.791C>T	c.(790-792)cCa>cTa	p.P264L	FAT3_ENST00000525166.1_Missense_Mutation_p.P114L|FAT3_ENST00000409404.2_Missense_Mutation_p.P264L|FAT3_ENST00000541502.1_Missense_Mutation_p.P264L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	264	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.|Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GAACATGCCCCAACAATCCAT	0.443										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(790-792)cCa>cTa		FAT atypical cadherin 3							176.0	169.0	171.0					11																	92086069		2026	4186	6212	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92086069C>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.791C>T	11.37:g.92086069C>T	ENSP00000298047:p.Pro264Leu	TCGA Ovarian(4;0.039)				FAT3_ENST00000525166.1_Missense_Mutation_p.P114L|FAT3_ENST00000409404.2_Missense_Mutation_p.P264L|FAT3_ENST00000541502.1_Missense_Mutation_p.P264L	p.P264L			Q8TDW7	FAT3_HUMAN			1	808	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	264			Cadherin 2.|Cadherin 3.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.791C>T		.	.	.	.	.	.	.	.	.	.	C	17.35	3.366856	0.61513	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	D;D;D;D	0.88124	-2.34;-2.34;-2.34;-2.34	5.09	5.09	0.68999	.	.	.	.	.	D	0.96380	0.8819	H	0.98295	4.195	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97996	1.0357	9	0.72032	D	0.01	.	17.8503	0.88744	0.0:1.0:0.0:0.0	.	264	Q8TDW7-3	.	L	264;264;264;114	ENSP00000298047:P264L;ENSP00000387040:P264L;ENSP00000443786:P264L;ENSP00000432586:P114L	ENSP00000298047:P264L	P	+	2	0	FAT3	91725717	1.000000	0.71417	0.257000	0.24404	0.584000	0.36387	7.752000	0.85141	2.509000	0.84616	0.557000	0.71058	CCA		0.443	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		18	109	18	109	---	---	---	---
FREM2	341640	broad.mit.edu	37	13	39265996	39265996	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr13:39265996C>A	ENST00000280481.7	+	1	4731	c.4515C>A	c.(4513-4515)gaC>gaA	p.D1505E		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1505					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TGAAAATGGACAGTTTTGAGT	0.468																																						ENST00000280481.7																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(4513-4515)gaC>gaA		FRAS1 related extracellular matrix protein 2							118.0	109.0	112.0					13																	39265996		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39265996C>A	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.4515C>A	13.37:g.39265996C>A	ENSP00000280481:p.Asp1505Glu						p.D1505E	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	1	4731	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	1505					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.4515C>A	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	C	16.92	3.255388	0.59321	.	.	ENSG00000150893	ENST00000280481	T	0.50001	0.76	6.07	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.76154	0.3948	H	0.96489	3.83	0.58432	D	0.999999	D	0.65815	0.995	D	0.64410	0.925	T	0.82468	-0.0442	10	0.62326	D	0.03	.	13.9506	0.64113	0.0:0.8775:0.0:0.1225	.	1505	Q5SZK8	FREM2_HUMAN	E	1505	ENSP00000280481:D1505E	ENSP00000280481:D1505E	D	+	3	2	FREM2	38163996	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.688000	0.37690	2.890000	0.99128	0.650000	0.86243	GAC		0.468	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		4	111	4	111	---	---	---	---
EIF5	1983	broad.mit.edu	37	14	103807368	103807368	+	Silent	SNP	C	C	T			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr14:103807368C>T	ENST00000216554.3	+	12	1951	c.1275C>T	c.(1273-1275)gaC>gaT	p.D425D	EIF5_ENST00000558506.1_Silent_p.D425D|EIF5_ENST00000392715.2_Silent_p.D425D	NM_001969.4	NP_001960.2	P55010	IF5_HUMAN	eukaryotic translation initiation factor 5	425	Asp-rich (acidic).				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.D425fs*>5(1)		breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1)	18		Melanoma(154;0.155)	Epithelial(46;0.182)			AGGATGACGACATCGATATTG	0.398																																						ENST00000216554.3																			1	Deletion - Frameshift(1)	p.D425fs*>5(1)	pancreas(1)	breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1)	18						c.(1273-1275)gaC>gaT		eukaryotic translation initiation factor 5							153.0	125.0	135.0					14																	103807368		2203	4300	6503	SO:0001819	synonymous_variant	1983				regulation of translational initiation|RNA metabolic process	cytosol	GTP binding|GTPase activity|translation initiation factor activity	g.chr14:103807368C>T	U49436	CCDS9980.1	14q32.32	2006-05-11				ENSG00000100664			3299	protein-coding gene	gene with protein product		601710				8663286	Standard	NM_001969		Approved		uc001ymq.4	P55010		ENST00000216554.3:c.1275C>T	14.37:g.103807368C>T						EIF5_ENST00000558506.1_Silent_p.D425D|EIF5_ENST00000392715.2_Silent_p.D425D	p.D425D	NM_001969.4	NP_001960.2	P55010	IF5_HUMAN	Epithelial(46;0.182)		12	1951	+		Melanoma(154;0.155)	425			Asp-rich (acidic).		Q53XB3|Q9H5N2|Q9UG48	Silent	SNP	ENST00000216554.3	37	c.1275C>T	CCDS9980.1																																																																																				0.398	EIF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415329.2	NM_001969		6	80	6	80	---	---	---	---
WDR90	197335	broad.mit.edu	37	16	703785	703785	+	Silent	SNP	G	G	A			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr16:703785G>A	ENST00000293879.4	+	13	1419	c.1419G>A	c.(1417-1419)aaG>aaA	p.K473K	LA16c-349E10.1_ENST00000573609.1_RNA|WDR90_ENST00000549091.1_Silent_p.K473K			Q96KV7	WDR90_HUMAN	WD repeat domain 90	473										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GGGTTGGCAAGGACCACCACG	0.642																																						ENST00000549091.1																			0				endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37						c.(1417-1419)aaG>aaA		WD repeat domain 90							38.0	45.0	43.0					16																	703785		1980	4156	6136	SO:0001819	synonymous_variant	197335							g.chr16:703785G>A	AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"""WD repeat domain containing"""	26960	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 17"", ""chromosome 16 open reading frame 15"", ""chromosome 16 open reading frame 16"", ""chromosome 16 open reading frame 19"", ""chromosome 16 open reading frame 18"""	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.1419G>A	16.37:g.703785G>A						WDR90_ENST00000293879.4_Silent_p.K473K	p.K473K	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN			13	1511	+		Hepatocellular(780;0.0218)	473					Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Silent	SNP	ENST00000293879.4	37	c.1419G>A	CCDS42092.1																																																																																				0.642	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	NM_145294		3	77	3	77	---	---	---	---
SEPHS2	22928	broad.mit.edu	37	16	30456579	30456579	+	Missense_Mutation	SNP	T	T	A	rs376948016		TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr16:30456579T>A	ENST00000478753.2	-	1	923	c.470A>T	c.(469-471)aAc>aTc	p.N157I	SEPHS2_ENST00000542752.1_Missense_Mutation_p.N100I|SEPHS2_ENST00000500504.2_Missense_Mutation_p.N157I			Q99611	SPS2_HUMAN	selenophosphate synthetase 2	157					selenocysteine biosynthetic process (GO:0016260)		ATP binding (GO:0005524)|selenide, water dikinase activity (GO:0004756)			breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						ACTCAGCACGTTGGCACAAGC	0.542																																					Esophageal Squamous(81;1142 1261 11202 24614 35697)	ENST00000478753.2																			0				breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						c.(469-471)aAc>aTc		selenophosphate synthetase 2							95.0	92.0	93.0					16																	30456579		2098	4226	6324	SO:0001583	missense	22928				selenocysteine biosynthetic process		ATP binding|selenide, water dikinase activity	g.chr16:30456579T>A	BC002381		16p11.2	2013-02-15			ENSG00000179918	ENSG00000179918			19686	protein-coding gene	gene with protein product		606218				10608886	Standard	NM_012248		Approved	SPS2, SPS2b	uc021tgl.1	Q99611	OTTHUMG00000176988	ENST00000478753.2:c.470A>T	16.37:g.30456579T>A	ENSP00000418669:p.Asn157Ile					SEPHS2_ENST00000542752.1_Missense_Mutation_p.N100I|SEPHS2_ENST00000500504.2_Missense_Mutation_p.N157I	p.N157I			Q99611	SPS2_HUMAN			1	923	-			157					Q9BUQ2	Missense_Mutation	SNP	ENST00000478753.2	37	c.470A>T		.	.	.	.	.	.	.	.	.	.	T	17.46	3.395331	0.62066	.	.	ENSG00000179918	ENST00000478753;ENST00000542752;ENST00000418751;ENST00000500504	T;T;T	0.30448	1.53;1.53;1.53	5.64	3.34	0.38264	PurM, N-terminal-like (1);AIR synthase-related protein (1);	0.092033	0.64402	N	0.000001	T	0.59865	0.2225	M	0.91663	3.23	0.80722	D	1	D;D	0.76494	0.97;0.999	D;D	0.79784	0.946;0.993	T	0.63681	-0.6582	10	0.87932	D	0	-10.8222	9.7018	0.40192	0.2767:0.0:0.0:0.7233	.	157;100	Q99611;F5H8F9	SPS2_HUMAN;.	I	157;100;108;157	ENSP00000418669:N157I;ENSP00000443601:N100I;ENSP00000426234:N157I	ENSP00000390233:N108I	N	-	2	0	SEPHS2	30364080	1.000000	0.71417	0.998000	0.56505	0.901000	0.52897	7.909000	0.87444	0.471000	0.27319	-0.333000	0.08304	AAC		0.542	SEPHS2-001	KNOWN	basic|seleno	protein_coding	protein_coding	OTTHUMT00000109640.11	NM_012248		16	92	16	92	---	---	---	---
CTC1	80169	broad.mit.edu	37	17	8138502	8138502	+	Silent	SNP	A	A	C			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr17:8138502A>C	ENST00000315684.8	-	8	1315	c.1308T>G	c.(1306-1308)cgT>cgG	p.R436R	CTC1_ENST00000581671.1_5'Flank	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	436					bone marrow development (GO:0048539)|cellular response to DNA damage stimulus (GO:0006974)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organism growth (GO:0035264)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|replicative senescence (GO:0090399)|spleen development (GO:0048536)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)|thymus development (GO:0048538)	nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						CAGGCTTCTGACGAGAGAAGC	0.622																																						ENST00000315684.8																			0				NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						c.(1306-1308)cgT>cgG		CTS telomere maintenance complex component 1							70.0	78.0	75.0					17																	8138502		2047	4184	6231	SO:0001819	synonymous_variant	80169				positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding	g.chr17:8138502A>C	AL831955	CCDS42259.1	17p13.1	2011-02-21	2011-02-21	2011-02-21	ENSG00000178971	ENSG00000178971			26169	protein-coding gene	gene with protein product	"""conserved telomere maintenance component 1"", ""alpha accessory factor 132"", ""conserved telomere capping protein 1"""	613129	"""tmp494178"", ""chromosome 17 open reading frame 68"""	C17orf68		19854130, 19854131	Standard	NM_025099		Approved	FLJ22170, AAF132	uc002gkq.4	Q2NKJ3		ENST00000315684.8:c.1308T>G	17.37:g.8138502A>C							p.R436R	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN			8	1315	-			436					B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	Silent	SNP	ENST00000315684.8	37	c.1308T>G	CCDS42259.1																																																																																				0.622	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442012.1	NM_025099		14	91	14	91	---	---	---	---
CTC1	80169	broad.mit.edu	37	17	8138518	8138518	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr17:8138518A>C	ENST00000315684.8	-	8	1299	c.1292T>G	c.(1291-1293)cTt>cGt	p.L431R	CTC1_ENST00000581671.1_5'Flank	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	431					bone marrow development (GO:0048539)|cellular response to DNA damage stimulus (GO:0006974)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organism growth (GO:0035264)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|replicative senescence (GO:0090399)|spleen development (GO:0048536)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)|thymus development (GO:0048538)	nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						GAAGCTTTGAAGCAGAACGGC	0.617																																						ENST00000315684.8																			0				NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						c.(1291-1293)cTt>cGt		CTS telomere maintenance complex component 1							68.0	77.0	74.0					17																	8138518		2060	4193	6253	SO:0001583	missense	80169				positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding	g.chr17:8138518A>C	AL831955	CCDS42259.1	17p13.1	2011-02-21	2011-02-21	2011-02-21	ENSG00000178971	ENSG00000178971			26169	protein-coding gene	gene with protein product	"""conserved telomere maintenance component 1"", ""alpha accessory factor 132"", ""conserved telomere capping protein 1"""	613129	"""tmp494178"", ""chromosome 17 open reading frame 68"""	C17orf68		19854130, 19854131	Standard	NM_025099		Approved	FLJ22170, AAF132	uc002gkq.4	Q2NKJ3		ENST00000315684.8:c.1292T>G	17.37:g.8138518A>C	ENSP00000313759:p.Leu431Arg						p.L431R	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN			8	1299	-			431					B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	Missense_Mutation	SNP	ENST00000315684.8	37	c.1292T>G	CCDS42259.1	.	.	.	.	.	.	.	.	.	.	a	9.164	1.019478	0.19355	.	.	ENSG00000178971	ENST00000315684;ENST00000449476	D;D	0.86097	-2.07;-2.07	5.04	5.04	0.67666	.	0.361669	0.24869	N	0.034954	D	0.88043	0.6331	M	0.63428	1.95	0.09310	N	0.999997	D	0.55385	0.971	P	0.55577	0.779	T	0.82043	-0.0653	10	0.87932	D	0	-3.8521	11.0997	0.48166	1.0:0.0:0.0:0.0	.	431	Q2NKJ3	CTC1_HUMAN	R	431;396	ENSP00000313759:L431R;ENSP00000396018:L396R	ENSP00000313759:L431R	L	-	2	0	CTC1	8079243	0.275000	0.24201	0.037000	0.18230	0.061000	0.15899	3.396000	0.52565	2.124000	0.65301	0.487000	0.48397	CTT		0.617	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442012.1	NM_025099		18	93	18	93	---	---	---	---
MAP2K4	6416	broad.mit.edu	37	17	12032526	12032526	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr17:12032526T>A	ENST00000353533.5	+	9	1025	c.962T>A	c.(961-963)gTg>gAg	p.V321E	MAP2K4_ENST00000415385.3_Missense_Mutation_p.V332E	NM_003010.2	NP_003001.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	321	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron apoptotic process (GO:0043525)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|nucleus (GO:0005634)|perikaryon (GO:0043204)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.0?(10)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		ACACAAGTCGTGAAAGGAGAT	0.413			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""																																	ENST00000415385.3				Rec	yes		17	17p11.2	6416	"""D, Mis, N"""	mitogen-activated protein kinase kinase 4			E			"""pancreatic, breast, colorectal"""		11	Whole gene deletion(10)|Unknown(1)	p.0?(10)|p.?(1)	ovary(4)|breast(4)|biliary_tract(1)|lung(1)|pancreas(1)	NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						c.(994-996)gTg>gAg		mitogen-activated protein kinase kinase 4							96.0	88.0	91.0					17																	12032526		2203	4300	6503	SO:0001583	missense	6416				cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:12032526T>A	L36870	CCDS11162.1, CCDS62095.1	17p12	2012-03-23			ENSG00000065559	ENSG00000065559	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6844	protein-coding gene	gene with protein product		601335		SERK1		7716521	Standard	NM_003010		Approved	MEK4, JNKK1, PRKMK4, MKK4	uc002gnj.3	P45985		ENST00000353533.5:c.962T>A	17.37:g.12032526T>A	ENSP00000262445:p.Val321Glu					MAP2K4_ENST00000353533.5_Missense_Mutation_p.V321E	p.V332E	NM_001281435.1	NP_001268364.1	P45985	MP2K4_HUMAN		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)	10	1048	+		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)	321			Protein kinase.		B2R7N7|B3KYB2|D3DTS5|Q5U0B8|Q6FHX4|Q6P9H2|Q6PIE6	Missense_Mutation	SNP	ENST00000353533.5	37	c.995T>A	CCDS11162.1	.	.	.	.	.	.	.	.	.	.	T	27.3	4.820585	0.90873	.	.	ENSG00000065559	ENST00000353533;ENST00000415385;ENST00000538465;ENST00000536413	T;T	0.65364	-0.15;-0.15	5.1	5.1	0.69264	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.73753	0.3627	L	0.49256	1.55	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.80764	0.954;0.993;0.994	T	0.76487	-0.2941	10	0.87932	D	0	.	14.2917	0.66284	0.0:0.0:0.0:1.0	.	193;332;321	B7ZA62;P45985-2;P45985	.;.;MP2K4_HUMAN	E	321;332;298;193	ENSP00000262445:V321E;ENSP00000410402:V332E	ENSP00000262445:V321E	V	+	2	0	MAP2K4	11973251	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.813000	0.86123	2.263000	0.75096	0.533000	0.62120	GTG		0.413	MAP2K4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441226.1			14	62	14	62	---	---	---	---
GAST	2520	broad.mit.edu	37	17	39871695	39871695	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr17:39871695C>T	ENST00000329402.3	+	2	74	c.7C>T	c.(7-9)Cga>Tga	p.R3*	RNA5SP442_ENST00000365050.1_RNA|JUP_ENST00000540235.1_Intron	NM_000805.4	NP_000796.1	P01350	GAST_HUMAN	gastrin	3			R -> P (in dbSNP:rs34309618).		G-protein coupled receptor signaling pathway (GO:0007186)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7		Breast(137;0.000307)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			CGAGATGCAGCGACTGTGTGT	0.592																																						ENST00000329402.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						c.(7-9)Cga>Tga		gastrin							283.0	279.0	280.0					17																	39871695		2203	4300	6503	SO:0001587	stop_gained	2520					extracellular region	hormone activity	g.chr17:39871695C>T		CCDS11404.1	17q21.2	2013-02-26	2005-06-14	2005-06-14	ENSG00000184502	ENSG00000184502		"""Endogenous ligands"""	4164	protein-coding gene	gene with protein product	"""preprogastrin"""	137250		GAS			Standard	NM_000805		Approved		uc002hxl.3	P01350	OTTHUMG00000133496	ENST00000329402.3:c.7C>T	17.37:g.39871695C>T	ENSP00000331358:p.Arg3*					JUP_ENST00000540235.1_Intron	p.R3*	NM_000805.4	NP_000796.1	P01350	GAST_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.0677)		2	74	+		Breast(137;0.000307)	3		R -> P (in dbSNP:rs34309618).			P78463|P78464	Nonsense_Mutation	SNP	ENST00000329402.3	37	c.7C>T	CCDS11404.1	.	.	.	.	.	.	.	.	.	.	C	15.95	2.984941	0.53934	.	.	ENSG00000184502	ENST00000329402	.	.	.	4.41	2.22	0.28083	.	0.933817	0.08817	N	0.889406	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.9714	9.2442	0.37515	0.389:0.611:0.0:0.0	.	.	.	.	X	3	.	ENSP00000331358:R3X	R	+	1	2	GAST	37125221	0.001000	0.12720	0.005000	0.12908	0.161000	0.22273	0.676000	0.25247	1.025000	0.39708	0.655000	0.94253	CGA		0.592	GAST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257409.1			42	342	42	342	---	---	---	---
TXNL1	9352	broad.mit.edu	37	18	54278306	54278306	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr18:54278306C>T	ENST00000217515.6	-	7	962	c.758G>A	c.(757-759)gGt>gAt	p.G253D	TXNL1_ENST00000590954.1_Missense_Mutation_p.G253D|TXNL1_ENST00000540155.1_Missense_Mutation_p.G130D	NM_004786.2	NP_004777.1	O43396	TXNL1_HUMAN	thioredoxin-like 1	253	PITH. {ECO:0000255|PROSITE- ProRule:PRU00864}.				cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	disulfide oxidoreductase activity (GO:0015036)|protein disulfide oxidoreductase activity (GO:0015035)			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(59;0.193)|Colorectal(16;0.211)		TTCCTCTTCACCTTGATTCGA	0.294																																						ENST00000217515.6																			0				endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						c.(757-759)gGt>gAt		thioredoxin-like 1							88.0	85.0	86.0					18																	54278306		2203	4297	6500	SO:0001583	missense	9352				cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport	cytoplasm	electron carrier activity|protein disulfide oxidoreductase activity	g.chr18:54278306C>T	AF003938	CCDS11961.1	18q21.31	2011-01-17	2004-05-06	2004-05-07	ENSG00000091164	ENSG00000091164			12436	protein-coding gene	gene with protein product	"""thioredoxin-like, 32kD"""	603049	"""thioredoxin-like, 32kDa"""	TXNL		9473519, 9668102	Standard	NM_004786		Approved	Txl, TRP32	uc002lgg.3	O43396	OTTHUMG00000132722	ENST00000217515.6:c.758G>A	18.37:g.54278306C>T	ENSP00000217515:p.Gly253Asp					TXNL1_ENST00000540155.1_Missense_Mutation_p.G130D|TXNL1_ENST00000590954.1_Missense_Mutation_p.G253D	p.G253D	NM_004786.2	NP_004777.1	O43396	TXNL1_HUMAN		READ - Rectum adenocarcinoma(59;0.193)|Colorectal(16;0.211)	7	962	-			253			PITH.			Missense_Mutation	SNP	ENST00000217515.6	37	c.758G>A	CCDS11961.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.945721	0.73672	.	.	ENSG00000091164	ENST00000217515;ENST00000540155	T	0.24538	1.85	5.78	5.78	0.91487	Proteasome-interacting thioredoxin-like domain, C-terminal (2);Galactose-binding domain-like (1);	0.045533	0.85682	D	0.000000	T	0.42223	0.1193	M	0.83012	2.62	0.80722	D	1	B;B	0.14805	0.01;0.011	B;B	0.31547	0.132;0.091	T	0.31110	-0.9955	10	0.44086	T	0.13	.	19.6075	0.95586	0.0:1.0:0.0:0.0	.	253;253	B2R960;O43396	.;TXNL1_HUMAN	D	253;130	ENSP00000217515:G253D	ENSP00000217515:G253D	G	-	2	0	TXNL1	52429304	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.151000	0.77411	2.749000	0.94314	0.655000	0.94253	GGT		0.294	TXNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256064.2			9	41	9	41	---	---	---	---
CYP2B6	1555	broad.mit.edu	37	19	41512860	41512860	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr19:41512860A>G	ENST00000324071.4	+	4	542	c.535A>G	c.(535-537)Atc>Gtc	p.I179V	CYP2B6_ENST00000598834.1_3'UTR|CYP2B6_ENST00000593831.1_Intron|CYP2B6_ENST00000330446.5_Intron	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	179					cellular ketone metabolic process (GO:0042180)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Antipyrine(DB01435)|Artemether(DB06697)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Brompheniramine(DB00835)|Bupropion(DB01156)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Citalopram(DB00215)|Clobazam(DB00349)|Clofibrate(DB00636)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Doxorubicin(DB00997)|Efavirenz(DB00625)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erythromycin(DB00199)|Estrone(DB00655)|Ethanol(DB00898)|Ethylmorphine(DB01466)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosphenytoin(DB01320)|Halothane(DB01159)|Ifosfamide(DB01181)|Imipramine(DB00458)|Irinotecan(DB00762)|Isoflurane(DB00753)|Itraconazole(DB01167)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lidocaine(DB00281)|Loperamide(DB00836)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Malathion(DB00772)|Memantine(DB01043)|Methadone(DB00333)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyltestosterone(DB06710)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitric Oxide(DB00435)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Paroxetine(DB00715)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Prasugrel(DB06209)|Primidone(DB00794)|Promethazine(DB01069)|Propofol(DB00818)|Quinidine(DB00908)|Raloxifene(DB00481)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Ropivacaine(DB00296)|Roxithromycin(DB00778)|Selegiline(DB01037)|Sertraline(DB01104)|Sevoflurane(DB01236)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Temazepam(DB00231)|Testosterone(DB00624)|Thiotepa(DB04572)|Ticlopidine(DB00208)|Tramadol(DB00193)|Tretinoin(DB00755)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)	CGCCAACATCATCTGCTCCAT	0.498																																						ENST00000324071.4																			0				NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(535-537)Atc>Gtc		cytochrome P450, family 2, subfamily B, polypeptide 6	Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)						110.0	95.0	100.0					19																	41512860		2203	4300	6503	SO:0001583	missense	1555				cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41512860A>G	AF182277	CCDS12570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000197408	ENSG00000197408		"""Cytochrome P450s"""	2615	protein-coding gene	gene with protein product		123930	"""cytochrome P450, subfamily IIB (phenobarbital-inducible), polypeptide 6"", ""cytochrome P450, family 2, subfamily B"", ""cytochrome P450, subfamily IIB (phenobarbital-inducible)"""	CYP2B		7668294, 15128046	Standard	NM_000767		Approved	CPB6, CYPIIB6	uc002opr.1	P20813	OTTHUMG00000182714	ENST00000324071.4:c.535A>G	19.37:g.41512860A>G	ENSP00000324648:p.Ile179Val					CYP2B6_ENST00000598834.1_3'UTR|CYP2B6_ENST00000330446.5_Intron|CYP2B6_ENST00000593831.1_Intron	p.I179V	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.00322)		4	542	+			179					B4DWP3|Q2V565|Q9UK46	Missense_Mutation	SNP	ENST00000324071.4	37	c.535A>G	CCDS12570.1	.	.	.	.	.	.	.	.	.	.	.	13.94	2.386107	0.42308	.	.	ENSG00000197408	ENST00000324071	T	0.73047	-0.71	4.48	4.48	0.54585	.	0.000000	0.85682	D	0.000000	T	0.72914	0.3520	M	0.82923	2.615	0.80722	D	1	B	0.28801	0.223	B	0.31547	0.132	T	0.75997	-0.3120	10	0.72032	D	0.01	.	11.8072	0.52163	1.0:0.0:0.0:0.0	.	179	P20813	CP2B6_HUMAN	V	179	ENSP00000324648:I179V	ENSP00000324648:I179V	I	+	1	0	CYP2B6	46204700	1.000000	0.71417	1.000000	0.80357	0.481000	0.33189	6.725000	0.74752	1.901000	0.55032	0.348000	0.21847	ATC		0.498	CYP2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463260.1	NM_000767		3	42	3	42	---	---	---	---
PRKCG	5582	broad.mit.edu	37	19	54395835	54395835	+	Silent	SNP	C	C	T			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr19:54395835C>T	ENST00000263431.3	+	7	1041	c.759C>T	c.(757-759)aaC>aaT	p.N253N	PRKCG_ENST00000542049.1_Silent_p.N140N|PRKCG_ENST00000536044.1_Silent_p.N253N|PRKCG_ENST00000540413.1_Silent_p.N253N	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	253	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cell death (GO:0008219)|chemosensory behavior (GO:0007635)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein ubiquitination (GO:0031397)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of mismatch repair (GO:0032425)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to morphine (GO:0043278)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic membrane (GO:0097060)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)	Tamoxifen(DB00675)	CCTCCCGCAACGACTTCATGG	0.672																																						ENST00000263431.3																			0				large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10						c.(757-759)aaC>aaT		protein kinase C, gamma							57.0	45.0	49.0					19																	54395835		2203	4300	6503	SO:0001819	synonymous_variant	5582				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding	g.chr19:54395835C>T	M13977	CCDS12867.1	19q13.4	2014-09-17			ENSG00000126583	ENSG00000126583	2.7.11.1		9402	protein-coding gene	gene with protein product	"""PKC-gamma"""	176980		PKCG, SCA14		8432525, 3755548	Standard	NM_002739		Approved	PKCC, MGC57564	uc002qcq.1	P05129	OTTHUMG00000064846	ENST00000263431.3:c.759C>T	19.37:g.54395835C>T						PRKCG_ENST00000540413.1_Silent_p.N253N|PRKCG_ENST00000542049.1_Silent_p.N140N|PRKCG_ENST00000536044.1_Silent_p.N253N	p.N253N	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN		GBM - Glioblastoma multiforme(134;0.0521)	7	1041	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		253			C2.		B7Z8Q0	Silent	SNP	ENST00000263431.3	37	c.759C>T	CCDS12867.1																																																																																				0.672	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139233.3	NM_002739		8	37	8	37	---	---	---	---
SNAI1	6615	broad.mit.edu	37	20	48600754	48600754	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr20:48600754G>T	ENST00000244050.2	+	2	537	c.476G>T	c.(475-477)tGc>tTc	p.C159F		NM_005985.3	NP_005976.2	O95863	SNAI1_HUMAN	snail family zinc finger 1	159	Required for nuclear localization and interaction with KPNB1, NOTCH1 and PARP1.				cartilage morphogenesis (GO:0060536)|cell migration (GO:0016477)|epithelial to mesenchymal transition (GO:0001837)|hair follicle morphogenesis (GO:0031069)|left/right pattern formation (GO:0060972)|mesoderm formation (GO:0001707)|negative regulation of cell differentiation involved in embryonic placenta development (GO:0060806)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|Notch signaling involved in heart development (GO:0061314)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of tight junction assembly (GO:2000810)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	kinase binding (GO:0019900)|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)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)	17			BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			TGCAAATACTGCAACAAGGAA	0.602																																						ENST00000244050.2																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)	17						c.(475-477)tGc>tTc		snail family zinc finger 1							40.0	41.0	41.0					20																	48600754		2203	4300	6503	SO:0001583	missense	6615				epithelial to mesenchymal transition|mesoderm formation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	kinase binding|zinc ion binding	g.chr20:48600754G>T	AF125377	CCDS13423.1	20q13.2	2013-05-23	2013-05-23		ENSG00000124216	ENSG00000124216		"""Snail homologs"", ""Zinc fingers, C2H2-type"""	11128	protein-coding gene	gene with protein product		604238	"""snail 1 (drosophila homolog), zinc finger protein"", ""snail homolog 1 (Drosophila)"""			10585766	Standard	NM_005985		Approved	SNA, SLUGH2, SNAH, SNAIL1, SNAIL	uc002xuz.3	O95863	OTTHUMG00000033048	ENST00000244050.2:c.476G>T	20.37:g.48600754G>T	ENSP00000244050:p.Cys159Phe						p.C159F	NM_005985.3	NP_005976.2	O95863	SNAI1_HUMAN	BRCA - Breast invasive adenocarcinoma(9;4.03e-06)		2	537	+			159					B2R842|Q9P113|Q9UBP7|Q9UHH7	Missense_Mutation	SNP	ENST00000244050.2	37	c.476G>T	CCDS13423.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.718233	0.89205	.	.	ENSG00000124216	ENST00000244050	D	0.99974	-10.2	4.58	4.58	0.56647	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.99975	0.9992	M	0.88979	2.995	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95682	0.8733	10	0.87932	D	0	-34.5017	17.7592	0.88460	0.0:0.0:1.0:0.0	.	159	O95863	SNAI1_HUMAN	F	159	ENSP00000244050:C159F	ENSP00000244050:C159F	C	+	2	0	SNAI1	48034161	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.420000	0.97426	2.256000	0.74724	0.557000	0.71058	TGC		0.602	SNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080350.1			3	34	3	34	---	---	---	---
TCF20	6942	broad.mit.edu	37	22	42609619	42609619	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr22:42609619G>T	ENST00000359486.3	-	1	1829	c.1693C>A	c.(1693-1695)Cag>Aag	p.Q565K	TCF20_ENST00000335626.4_Missense_Mutation_p.Q565K	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	565					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GGTTCATTCTGAGCACCTTGT	0.582																																						ENST00000359486.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						c.(1693-1695)Cag>Aag		transcription factor 20 (AR1)							61.0	57.0	58.0					22																	42609619		2203	4300	6503	SO:0001583	missense	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42609619G>T	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.1693C>A	22.37:g.42609619G>T	ENSP00000352463:p.Gln565Lys					TCF20_ENST00000335626.4_Missense_Mutation_p.Q565K	p.Q565K	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN			1	1829	-			565					A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	ENST00000359486.3	37	c.1693C>A	CCDS14033.1	.	.	.	.	.	.	.	.	.	.	G	15.44	2.833943	0.50951	.	.	ENSG00000100207	ENST00000359486;ENST00000335626	T;T	0.61274	0.12;0.12	6.17	6.17	0.99709	.	0.172756	0.41500	D	0.000875	T	0.57359	0.2048	N	0.19112	0.55	0.80722	D	1	D;D	0.58268	0.982;0.969	D;D	0.70227	0.968;0.93	T	0.49153	-0.8969	10	0.06494	T	0.89	-12.6915	13.9957	0.64397	0.0685:0.0:0.9315:0.0	.	565;565	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	K	565	ENSP00000352463:Q565K;ENSP00000335561:Q565K	ENSP00000335561:Q565K	Q	-	1	0	TCF20	40939563	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	5.765000	0.68834	2.941000	0.99782	0.655000	0.94253	CAG		0.582	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		4	66	4	66	---	---	---	---
ATM	472	broad.mit.edu	37	11	108121643	108121643	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr11:108121643delG	ENST00000452508.2	+	11	1640	c.1451delG	c.(1450-1452)tggfs	p.W484fs	ATM_ENST00000278616.4_Frame_Shift_Del_p.W484fs			Q13315	ATM_HUMAN	ATM serine/threonine kinase	484					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	TTAAAACTCTGGAATAAAATT	0.373			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"""D, Mis, N, F, S"""	ataxia telangiectasia mutated			"""L, O"""		"""leukemia, lymphoma, medulloblastoma, glioma"""	T-PLL		0				NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(1450-1452)tggfs	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated							89.0	96.0	93.0					11																	108121643		2201	4298	6499	SO:0001589	frameshift_variant	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108121643delG	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.1451delG	11.37:g.108121643delG	ENSP00000388058:p.Trp484fs	TSP Lung(14;0.12)				ATM_ENST00000452508.2_Frame_Shift_Del_p.W484fs	p.W484fs	NM_000051.3	NP_000042	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	10	1836	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	484					B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Frame_Shift_Del	DEL	ENST00000452508.2	37	c.1451delG	CCDS31669.1																																																																																				0.373	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		15	54	15	54	---	---	---	---
