#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
EPHA8	2046	broad.mit.edu	37	1	22902985	22902985	+	Silent	SNP	C	C	T	rs142515766		TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr1:22902985C>T	ENST00000166244.3	+	3	507	c.435C>T	c.(433-435)atC>atT	p.I145I	EPHA8_ENST00000374644.4_Silent_p.I145I|EPHA8_ENST00000538803.1_Silent_p.I145I	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	145	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TCCTCAAAATCGACACCATTG	0.612													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18079	0.0		0.0	False		,,,				2504	0.0					uc001bfx.1																			0				breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.(433-435)atC>atT		Homo sapiens EPH receptor A8 (EPHA8), transcript variant 1, mRNA.		C	,	3,4403	6.2+/-15.9	0,3,2200	90.0	78.0	82.0		435,435	-0.6	1.0	1	dbSNP_134	82	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	EPHA8	NM_001006943.1,NM_020526.3	,	0,4,6499	TT,TC,CC		0.0116,0.0681,0.0308	,	145/496,145/1006	22902985	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	2046					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr1:22902985C>T	BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3391	protein-coding gene	gene with protein product		176945	"""EphA8"""	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.435C>T	1.37:g.22902985C>T						EPHA8_uc001bfw.3_Silent_p.I145I	p.I145I	NM_020526	NP_065387	P29322	EPHA8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	2	560	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	145					Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Silent	SNP	ENST00000166244.3	37	c.435C>T	CCDS225.1																																																																																				0.612	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526	
FAM129A	116496	broad.mit.edu	37	1	184764446	184764446	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr1:184764446C>T	ENST00000367511.3	-	14	2645	c.2452G>A	c.(2452-2454)Gag>Aag	p.E818K	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	818	Glu-rich.				negative regulation of protein phosphorylation (GO:0001933)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						GTGCAGGCCTCTCCTGGGAGC	0.647																																						uc001gra.3																			0				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						c.(2452-2454)Gag>Aag		Homo sapiens family with sequence similarity 129, member A (FAM129A), transcript variant 2, mRNA.							53.0	53.0	53.0					1																	184764446		2203	4300	6503	SO:0001583	missense	116496				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane		g.chr1:184764446C>T	AF288391	CCDS1364.1	1q25	2008-10-08	2006-11-23	2006-11-23	ENSG00000135842	ENSG00000135842			16784	protein-coding gene	gene with protein product	"""cell growth inhibiting protein 39"""		"""chromosome 1 open reading frame 24"""	C1orf24		15085203, 16444351	Standard	NM_052966		Approved	NIBAN, GIG39	uc001gra.4	Q9BZQ8	OTTHUMG00000035388	ENST00000367511.3:c.2452G>A	1.37:g.184764446C>T	ENSP00000356481:p.Glu818Lys					FAM129A_uc001grb.1_Intron	p.E818K	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN			13	2646	-			818			Glu-rich.		Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Missense_Mutation	SNP	ENST00000367511.3	37	c.2452G>A	CCDS1364.1	.	.	.	.	.	.	.	.	.	.	C	8.934	0.964167	0.18583	.	.	ENSG00000135842	ENST00000367511	T	0.10573	2.86	5.25	-6.81	0.01704	.	2.875170	0.00644	N	0.000531	T	0.05044	0.0135	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.37911	-0.9685	10	0.06494	T	0.89	1.3889	7.4335	0.27141	0.0:0.4598:0.2536:0.2866	.	818	Q9BZQ8	NIBAN_HUMAN	K	818	ENSP00000356481:E818K	ENSP00000356481:E818K	E	-	1	0	FAM129A	183031069	0.000000	0.05858	0.000000	0.03702	0.136000	0.21042	-0.695000	0.05109	-1.194000	0.02684	0.462000	0.41574	GAG		0.647	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085786.1		
CACNA1S	779	broad.mit.edu	37	1	201052298	201052298	+	Missense_Mutation	SNP	C	C	T	rs146696298		TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr1:201052298C>T	ENST00000362061.3	-	10	1611	c.1385G>A	c.(1384-1386)cGt>cAt	p.R462H	CACNA1S_ENST00000367338.3_Missense_Mutation_p.R462H	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	462					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	ACCTTGCAAACGGGTCAGCCA	0.557																																						uc001gvv.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102						c.(1384-1386)cGt>cAt		Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	Magnesium Sulfate(DB00653)|Verapamil(DB00661)	C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	78.0	66.0	70.0		1385	-0.9	0.1	1	dbSNP_134	70	0,8600		0,0,4300	no	missense	CACNA1S	NM_000069.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	462/1874	201052298	1,13005	2203	4300	6503	SO:0001583	missense	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201052298C>T	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.1385G>A	1.37:g.201052298C>T	ENSP00000355192:p.Arg462His						p.R462H	NM_000069	NP_000060	Q13698	CAC1S_HUMAN			9	1612	-			462					A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	c.1385G>A	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.756982	0.00657	2.27E-4	0.0	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.97480	-4.4;-4.4	4.53	-0.908	0.10517	.	1.038830	0.07484	N	0.904426	D	0.89736	0.6801	N	0.05534	-0.03	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.81165	-0.1057	10	0.17832	T	0.49	.	6.0446	0.19752	0.122:0.3748:0.0:0.5032	.	462	Q13698	CAC1S_HUMAN	H	462	ENSP00000355192:R462H;ENSP00000356307:R462H	ENSP00000355192:R462H	R	-	2	0	CACNA1S	199318921	0.000000	0.05858	0.073000	0.20177	0.029000	0.11900	0.171000	0.16685	-0.065000	0.13021	-1.246000	0.01523	CGT		0.557	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069	
KLHL12	59349	broad.mit.edu	37	1	202862387	202862387	+	Frame_Shift_Del	DEL	C	C	-			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr1:202862387delC	ENST00000367261.3	-	11	1778	c.1560delG	c.(1558-1560)gggfs	p.G520fs	KLHL12_ENST00000435533.3_Frame_Shift_Del_p.G558fs|KLHL12_ENST00000367259.1_Intron	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	kelch-like family member 12	520	Interaction with DVL3.				COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|protein monoubiquitination (GO:0006513)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|ER to Golgi transport vesicle (GO:0030134)|Golgi membrane (GO:0000139)				NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			CATAGAGTCTCCCCCGAAGCA	0.468																																						uc001gyo.1																			0				NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14						c.(1558-1560)gggfs		Homo sapiens kelch-like 12 (Drosophila) (KLHL12), mRNA.							140.0	134.0	136.0					1																	202862387		2203	4300	6503	SO:0001589	frameshift_variant	59349				Wnt receptor signaling pathway		protein binding	g.chr1:202862387delC	AF190900	CCDS1429.1	1q32.1	2013-01-30	2013-01-30		ENSG00000117153	ENSG00000117153		"""Kelch-like"", ""BTB/POZ domain containing"""	19360	protein-coding gene	gene with protein product		614522	"""kelch-like 12 (Drosophila)"""			12477932	Standard	NM_021633		Approved	C3IP1	uc001gyo.1	Q53G59	OTTHUMG00000041385	ENST00000367261.3:c.1560delG	1.37:g.202862387delC	ENSP00000356230:p.Gly520fs					KLHL12_uc001gym.1_Intron|KLHL12_uc001gyn.1_Intron|KLHL12_uc010pqc.1_Frame_Shift_Del_p.G558fs|KLHL12_uc009xah.1_Frame_Shift_Del_p.G419fs	p.G520fs	NM_021633	NP_067646	Q53G59	KLH12_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		10	1760	-			520			Interaction with DVL3.		A6NEN8|B7Z7B8|Q9HBX5	Frame_Shift_Del	DEL	ENST00000367261.3	37	c.1560delG	CCDS1429.1																																																																																				0.468	KLHL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099151.1	NM_021633	
PPME1	51400	broad.mit.edu	37	11	73914828	73914828	+	Missense_Mutation	SNP	A	A	T			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr11:73914828A>T	ENST00000328257.8	+	2	480	c.157A>T	c.(157-159)Atg>Ttg	p.M53L	PPME1_ENST00000542710.1_3'UTR|PPME1_ENST00000398427.4_Missense_Mutation_p.M53L			Q9Y570	PPME1_HUMAN	protein phosphatase methylesterase 1	53					negative regulation of catalytic activity (GO:0043086)|protein demethylation (GO:0006482)|regulation of catalytic activity (GO:0050790)		protein C-terminal methylesterase activity (GO:0051722)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|protein phosphatase inhibitor activity (GO:0004864)|protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(1)|large_intestine(2)|lung(2)	5	Breast(11;3.29e-05)					TTTTGAGTCCATGGAAGATGT	0.373																																						uc001ouw.3																			0				endometrium(1)|large_intestine(2)|lung(2)	5						c.(157-159)Atg>Ttg		Homo sapiens protein phosphatase methylesterase 1 (PPME1), mRNA.							151.0	143.0	146.0					11																	73914828		1810	4077	5887	SO:0001583	missense	51400				protein demethylation		carboxylesterase activity|protein C-terminal methylesterase activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity	g.chr11:73914828A>T		CCDS44678.1, CCDS60891.1	11q13.4	2014-03-14			ENSG00000214517	ENSG00000214517	3.1.1.89		30178	protein-coding gene	gene with protein product		611117				10318862	Standard	NM_016147		Approved	PME-1	uc009yty.4	Q9Y570	OTTHUMG00000168115	ENST00000328257.8:c.157A>T	11.37:g.73914828A>T	ENSP00000329867:p.Met53Leu					PPME1_uc009yty.3_5'Flank	p.M53L	NM_016147	NP_057231	Q9Y570	PPME1_HUMAN			1	256	+	Breast(11;3.29e-05)		53					B3KMU6|B5MEE7|J3QT22|Q8WYG8|Q9NVT5|Q9UI18	Missense_Mutation	SNP	ENST00000328257.8	37	c.157A>T	CCDS44678.1	.	.	.	.	.	.	.	.	.	.	A	11.49	1.653791	0.29425	.	.	ENSG00000214517	ENST00000328257;ENST00000398427;ENST00000544401	T	0.01304	5.03	5.89	4.76	0.60689	.	0.117666	0.85682	D	0.000000	T	0.02156	0.0067	L	0.54323	1.7	0.80722	D	1	B	0.16396	0.017	B	0.17098	0.017	T	0.52801	-0.8527	10	0.31617	T	0.26	-24.895	10.9582	0.47370	0.9258:0.0:0.0741:0.0	.	53	Q9Y570	PPME1_HUMAN	L	53	ENSP00000438632:M53L	ENSP00000329867:M53L	M	+	1	0	PPME1	73592476	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.523000	0.73787	1.048000	0.40298	0.533000	0.62120	ATG		0.373	PPME1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398254.1	NM_016147	
CLECL1	160365	broad.mit.edu	37	12	9885637	9885637	+	Frame_Shift_Del	DEL	A	A	-			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr12:9885637delA	ENST00000327839.3	-	1	258	c.224delT	c.(223-225)ttgfs	p.L75fs		NM_172004.3	NP_742001.1	Q8IZS7	CLCL1_HUMAN	C-type lectin-like 1	75						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(1)|kidney(1)|large_intestine(4)|lung(3)	9						TGCACAGATCAAAAAGAGAGA	0.423																																						uc001qwi.3																			0				breast(1)|kidney(1)|large_intestine(4)|lung(3)	9						c.(223-225)ttgfs		Homo sapiens C-type lectin-like 1 (CLECL1), transcript variant 3, mRNA.							88.0	88.0	88.0					12																	9885637		2203	4300	6503	SO:0001589	frameshift_variant	160365					integral to membrane|plasma membrane	sugar binding	g.chr12:9885637delA	AF518873	CCDS8603.1, CCDS73441.1	12p13.31	2007-06-21				ENSG00000184293			24462	protein-coding gene	gene with protein product	"""dendritic cell associated lectin 1"""	607467				12421943	Standard	NM_172004		Approved	DCAL1	uc001qwi.3	Q8IZS7		ENST00000327839.3:c.224delT	12.37:g.9885637delA	ENSP00000331766:p.Leu75fs					CLECL1_uc001qwj.3_Frame_Shift_Del_p.L75fs	p.L75fs	NM_001253750	NP_001240679	Q8IZS7	CLCL1_HUMAN			0	259	-			75						Frame_Shift_Del	DEL	ENST00000327839.3	37	c.224delT	CCDS8603.1																																																																																				0.423	CLECL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399815.1	NM_172004	
C12orf40	283461	broad.mit.edu	37	12	40040162	40040162	+	Missense_Mutation	SNP	G	G	C			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr12:40040162G>C	ENST00000324616.5	+	4	388	c.234G>C	c.(232-234)atG>atC	p.M78I	C12orf40_ENST00000398716.1_Start_Codon_SNP_p.M1I|C12orf40_ENST00000405531.3_Missense_Mutation_p.M78I	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	78										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						ATGTGAACATGAATAGAGACA	0.279																																						uc001rmc.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						c.(232-234)atG>atC		Homo sapiens chromosome 12 open reading frame 40 (C12orf40), mRNA.							97.0	88.0	91.0					12																	40040162		1800	4074	5874	SO:0001583	missense	283461							g.chr12:40040162G>C	AK097445	CCDS41770.1	12q12	2008-08-04			ENSG00000180116	ENSG00000180116			26846	protein-coding gene	gene with protein product						12477932	Standard	XM_005268806		Approved	FLJ40126	uc001rmc.3	Q86WS4	OTTHUMG00000133567	ENST00000324616.5:c.234G>C	12.37:g.40040162G>C	ENSP00000317671:p.Met78Ile					C12orf40_uc009zjv.1_Non-coding_Transcript	p.M78I	NM_001031748	NP_001026918	Q86WS4	CL040_HUMAN			3	401	+			78					B7WNU1|Q8IXY6|Q8N818|V9HW02	Missense_Mutation	SNP	ENST00000324616.5	37	c.234G>C	CCDS41770.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.380180	0.42207	.	.	ENSG00000180116	ENST00000405531;ENST00000398716;ENST00000324616	T;T	0.40476	1.03;1.04	5.35	3.5	0.40072	.	0.000000	0.56097	D	0.000024	T	0.27866	0.0686	L	0.29908	0.895	0.24866	N	0.992319	B	0.30851	0.297	B	0.26202	0.067	T	0.20773	-1.0265	10	0.54805	T	0.06	.	8.7168	0.34416	0.1854:0.0:0.8146:0.0	.	78	Q86WS4	CL040_HUMAN	I	78;1;78	ENSP00000383897:M78I;ENSP00000317671:M78I	ENSP00000317671:M78I	M	+	3	0	C12orf40	38326429	1.000000	0.71417	1.000000	0.80357	0.431000	0.31685	3.526000	0.53509	1.401000	0.46761	-0.142000	0.14014	ATG		0.279	C12orf40-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257664.2	NM_173599	
DHRS2	10202	broad.mit.edu	37	14	24108199	24108199	+	Silent	SNP	G	G	A	rs372558157		TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr14:24108199G>A	ENST00000250383.6	+	2	602	c.126G>A	c.(124-126)acG>acA	p.T42T	DHRS2_ENST00000344777.7_Silent_p.T42T|DHRS2_ENST00000553896.1_3'UTR	NM_005794.3	NP_005785.1	Q13268	DHRS2_HUMAN	dehydrogenase/reductase (SDR family) member 2	42					C21-steroid hormone metabolic process (GO:0008207)|cellular response to oxidative stress (GO:0034599)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|response to toxic substance (GO:0009636)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	carbonyl reductase (NADPH) activity (GO:0004090)			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00659)		CCGTGGTCACGGGGTCCACCA	0.597																																						uc001wkt.4																			0				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(124-126)acG>acA		Homo sapiens dehydrogenase/reductase (SDR family) member 2 (DHRS2), transcript variant 1, mRNA.		G	,	0,4406		0,0,2203	72.0	75.0	74.0		126,126	-10.8	0.0	14		74	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous	DHRS2	NM_005794.3,NM_182908.4	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	42/281,42/301	24108199	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10202				C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity	g.chr14:24108199G>A		CCDS9604.1, CCDS41927.1	14q11.2	2011-09-14			ENSG00000100867	ENSG00000100867		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	18349	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 25C, member 1"""	615194				7556196, 11944995, 16685466, 19027726	Standard	NM_182908		Approved	HEP27, SDR25C1	uc001wkt.4	Q13268	OTTHUMG00000028771	ENST00000250383.6:c.126G>A	14.37:g.24108199G>A						DHRS2_uc010aku.1_Silent_p.T42T|DHRS2_uc001wku.4_Silent_p.T42T|DHRS2_uc010akv.3_Non-coding_Transcript	p.T42T	NM_182908	NP_878912	Q13268	DHRS2_HUMAN		GBM - Glioblastoma multiforme(265;0.00659)	1	573	+			20					D3DS54|Q53GS4|Q7Z789|Q9H2R2	Silent	SNP	ENST00000250383.6	37	c.126G>A	CCDS9604.1																																																																																				0.597	DHRS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000071842.2	NM_182908	
TICRR	90381	broad.mit.edu	37	15	90168464	90168464	+	Silent	SNP	C	C	T			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr15:90168464C>T	ENST00000268138.7	+	20	5028	c.4923C>T	c.(4921-4923)acC>acT	p.T1641T	TICRR_ENST00000560985.1_Silent_p.T1640T|KIF7_ENST00000558928.1_Intron			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	1641					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)										GGGGGCAAACCTACATCTGCC	0.612																																						uc002boe.3																			0				NS(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(21)|ovary(6)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	59						c.(4921-4923)acC>acT		Homo sapiens chromosome 15 open reading frame 42 (C15orf42), mRNA.							43.0	45.0	45.0					15																	90168464		2200	4299	6499	SO:0001819	synonymous_variant	90381				cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding	g.chr15:90168464C>T	AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"""TOPBP1-interacting replication-stimulating protein"", ""SLD3 homolog (S. cerevisiae)"""	613298	"""chromosome 15 open reading frame 42"""	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.4923C>T	15.37:g.90168464C>T						C15orf42_uc021sug.1_Silent_p.T1640T	p.T1641T	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.128)		19	4923	+	Lung NSC(78;0.0237)|all_lung(78;0.0478)		1641					B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Silent	SNP	ENST00000268138.7	37	c.4923C>T	CCDS10352.2																																																																																				0.612	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000312856.1	NM_152259	
MSLN	10232	broad.mit.edu	37	16	816982	816982	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr16:816982G>A	ENST00000382862.3	+	14	1590	c.1495G>A	c.(1495-1497)Gaa>Aaa	p.E499K	MSLN_ENST00000545450.2_Missense_Mutation_p.E491K|MSLN_ENST00000563941.1_Missense_Mutation_p.E491K|MSLN_ENST00000566549.1_Missense_Mutation_p.E491K	NM_013404.4	NP_037536.2	Q13421	MSLN_HUMAN	mesothelin	499					cell adhesion (GO:0007155)|pancreas development (GO:0031016)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				GAACGGGTCCGAATACTTCGT	0.632																																						uc002cjw.2																			0				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20						c.(1495-1497)Gaa>Aaa		Homo sapiens mesothelin (MSLN), transcript variant 2, mRNA.							72.0	74.0	74.0					16																	816982		2190	4292	6482	SO:0001583	missense	10232				cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane		g.chr16:816982G>A	U40434	CCDS32356.1, CCDS45370.1	16p13.3	2008-04-16			ENSG00000102854	ENSG00000102854			7371	protein-coding gene	gene with protein product		601051				7665620, 8552591	Standard	NM_005823		Approved	CAK1, MPF	uc002cjw.2	Q13421	OTTHUMG00000047992	ENST00000382862.3:c.1495G>A	16.37:g.816982G>A	ENSP00000372313:p.Glu499Lys					MSLN_uc002cju.1_Missense_Mutation_p.E491K|MSLN_uc002cjt.1_Missense_Mutation_p.E491K|MSLN_uc010brd.1_Missense_Mutation_p.E490K|MSLN_uc002cjy.1_Missense_Mutation_p.E156K	p.E499K	NM_013404	NP_037536	Q13421	MSLN_HUMAN			13	1606	+		Hepatocellular(780;0.00335)	499					D3DU65|Q14859|Q4VQD5|Q96GR6|Q96KJ5|Q9BR17|Q9BTR2|Q9UCB2|Q9UK57	Missense_Mutation	SNP	ENST00000382862.3	37	c.1495G>A	CCDS32356.1	.	.	.	.	.	.	.	.	.	.	g	10.85	1.466923	0.26335	.	.	ENSG00000102854	ENST00000446427;ENST00000445361;ENST00000545450;ENST00000382862	T;T	0.17528	2.27;2.27	4.61	0.113	0.14631	.	0.753644	0.11944	N	0.514396	T	0.12178	0.0296	M	0.63843	1.955	0.09310	N	1	P;P;P;P	0.44478	0.803;0.836;0.803;0.803	B;B;B;B	0.29716	0.064;0.106;0.064;0.064	T	0.19418	-1.0306	10	0.49607	T	0.09	-4.9906	5.0831	0.14666	0.2448:0.1578:0.5974:0.0	.	490;499;491;491	Q13421-4;Q13421;Q13421-2;Q13421-3	.;MSLN_HUMAN;.;.	K	499;491;491;499	ENSP00000442965:E491K;ENSP00000372313:E499K	ENSP00000372313:E499K	E	+	1	0	MSLN	756983	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.464000	0.21988	0.202000	0.20498	-0.246000	0.11932	GAA		0.632	MSLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109253.2		
PPL	5493	broad.mit.edu	37	16	4945705	4945705	+	Missense_Mutation	SNP	C	C	T	rs142355114		TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr16:4945705C>T	ENST00000345988.2	-	10	1074	c.985G>A	c.(985-987)Gtg>Atg	p.V329M	PPL_ENST00000590782.2_Missense_Mutation_p.V327M	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	329					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						GCGTCCTTCACGTCTTCGTGA	0.577																																						uc002cyd.1																			0				breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						c.(985-987)Gtg>Atg		Homo sapiens periplakin (PPL), mRNA.		C	MET/VAL	1,4393	2.1+/-5.4	0,1,2196	106.0	88.0	94.0		985	-7.2	0.0	16	dbSNP_134	94	0,8600		0,0,4300	no	missense	PPL	NM_002705.4	21	0,1,6496	TT,TC,CC		0.0,0.0228,0.0077	benign	329/1757	4945705	1,12993	2197	4300	6497	SO:0001583	missense	5493				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr16:4945705C>T	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.985G>A	16.37:g.4945705C>T	ENSP00000340510:p.Val329Met						p.V329M	NM_002705	NP_002696	O60437	PEPL_HUMAN			9	1075	-			329					O60314|O60454|Q14C98	Missense_Mutation	SNP	ENST00000345988.2	37	c.985G>A	CCDS10526.1	.	.	.	.	.	.	.	.	.	.	C	4.899	0.167034	0.09339	2.28E-4	0.0	ENSG00000118898	ENST00000345988	D	0.92805	-3.11	4.12	-7.15	0.01521	.	0.297310	0.31721	N	0.007177	T	0.81024	0.4737	L	0.39898	1.24	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.64867	-0.6306	10	0.35671	T	0.21	.	2.335	0.04245	0.2058:0.2119:0.1014:0.4809	.	329	O60437	PEPL_HUMAN	M	329	ENSP00000340510:V329M	ENSP00000340510:V329M	V	-	1	0	PPL	4885706	0.000000	0.05858	0.009000	0.14445	0.154000	0.21943	-0.182000	0.09726	-1.749000	0.01330	-0.448000	0.05591	GTG		0.577	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705	
SRCAP	10847	broad.mit.edu	37	16	30721206	30721206	+	Silent	SNP	G	G	A			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr16:30721206G>A	ENST00000262518.4	+	8	1276	c.891G>A	c.(889-891)gaG>gaA	p.E297E	SNORA30_ENST00000384028.1_RNA|SRCAP_ENST00000395059.2_Silent_p.E297E|SRCAP_ENST00000344771.4_Silent_p.E297E	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	297	Glu-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			ATGAGGAAGAGGATGATGAGG	0.522																																						uc002dze.1																			0				NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136						c.(889-891)gaG>gaA		Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.							93.0	72.0	79.0					16																	30721206		2197	4300	6497	SO:0001819	synonymous_variant	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30721206G>A	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.891G>A	16.37:g.30721206G>A						SRCAP_uc021tgn.1_Silent_p.E297E|SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Silent_p.E154E|SNORA30_uc002dzh.1_5'Flank	p.E297E	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		7	1276	+			297			Glu-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Silent	SNP	ENST00000262518.4	37	c.891G>A	CCDS10689.2																																																																																				0.522	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662	
ZNF99	7652	broad.mit.edu	37	19	22941588	22941588	+	Missense_Mutation	SNP	C	C	T	rs200740712	byFrequency	TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr19:22941588C>T	ENST00000596209.1	-	4	1213	c.1123G>A	c.(1123-1125)Ggc>Agc	p.G375S	ZNF99_ENST00000397104.3_Missense_Mutation_p.G284S	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	375					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AAAGCTTTGCCGCATTCTTCA	0.368													C|||	3	0.000599042	0.0015	0.0	5008	,	,		19704	0.0		0.001	False		,,,				2504	0.0					uc021urt.1																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124						c.(1123-1125)Ggc>Agc		Homo sapiens zinc finger protein 99 (ZNF99), mRNA.		C	SER/GLY	7,4057		0,7,2025	90.0	95.0	94.0		850	1.3	0.0	19		94	4,8398		0,4,4197	no	missense	ZNF99	NM_001080409.2	56	0,11,6222	TT,TC,CC		0.0476,0.1722,0.0882	probably-damaging	284/912	22941588	11,12455	2032	4201	6233	SO:0001583	missense	7652							g.chr19:22941588C>T	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.1123G>A	19.37:g.22941588C>T	ENSP00000472969:p.Gly375Ser						p.G375S	NM_001080409	NP_001073878					3	1278	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.1123G>A	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	N	14.73	2.623956	0.46840	0.001722	4.76E-4	ENSG00000213973	ENST00000397104	T	0.20463	2.07	1.28	1.28	0.21552	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.29524	0.0736	L	0.31294	0.92	0.29481	N	0.85635	D	0.89917	1.0	D	0.77557	0.99	T	0.11767	-1.0574	9	0.87932	D	0	.	7.5823	0.27972	0.0:1.0:0.0:0.0	.	284	A8MXY4	ZNF99_HUMAN	S	284	ENSP00000380293:G284S	ENSP00000380293:G284S	G	-	1	0	ZNF99	22733428	0.005000	0.15991	0.032000	0.17829	0.027000	0.11550	0.952000	0.29149	0.675000	0.31264	0.395000	0.25975	GGC		0.368	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124	
MAP4K1	11184	broad.mit.edu	37	19	39104548	39104548	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr19:39104548G>A	ENST00000591517.1	-	8	533	c.505C>T	c.(505-507)Cgc>Tgc	p.R169C	MAP4K1_ENST00000589002.1_5'UTR|MAP4K1_ENST00000586296.1_Missense_Mutation_p.R169C|MAP4K1_ENST00000423454.2_De_novo_Start_InFrame|MAP4K1_ENST00000589130.1_Missense_Mutation_p.R165C|MAP4K1_ENST00000396857.2_Missense_Mutation_p.R169C	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	169	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|cell proliferation (GO:0008283)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)	membrane (GO:0016020)	ATP binding (GO:0005524)|MAP kinase kinase kinase kinase activity (GO:0008349)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			AAAGAGAGGCGTCTGGCCAGT	0.627																																						uc002oix.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44						c.(505-507)Cgc>Tgc		Homo sapiens mitogen-activated protein kinase kinase kinase kinase 1 (MAP4K1), transcript variant 2, mRNA.							36.0	43.0	40.0					19																	39104548		2009	4176	6185	SO:0001583	missense	11184				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity	g.chr19:39104548G>A	U66464	CCDS42564.1, CCDS59385.1	19q13.1-q13.4	2011-06-09				ENSG00000104814	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6863	protein-coding gene	gene with protein product	"""hematopoietic progenitor kinase 1"""	601983				8824585	Standard	NM_001042600		Approved	HPK1	uc002oix.1	Q92918		ENST00000591517.1:c.505C>T	19.37:g.39104548G>A	ENSP00000465039:p.Arg169Cys					MAP4K1_uc002oiy.1_Missense_Mutation_p.R169C|MAP4K1_uc010xug.2_5'UTR	p.R169C	NM_007181	NP_009112	Q92918	M4K1_HUMAN	Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)		7	613	-	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		169			Protein kinase.			Missense_Mutation	SNP	ENST00000591517.1	37	c.505C>T	CCDS59385.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.315842	0.60524	.	.	ENSG00000104814	ENST00000396857;ENST00000221409	T	0.65178	-0.14	4.6	3.52	0.40303	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	0.64402	D	0.000003	T	0.76205	0.3955	M	0.75777	2.31	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.911	T	0.77469	-0.2576	10	0.87932	D	0	.	10.5799	0.45248	0.0:0.0:0.5194:0.4806	.	169;169	Q92918-2;Q92918	.;M4K1_HUMAN	C	169	ENSP00000380066:R169C	ENSP00000221409:R169C	R	-	1	0	MAP4K1	43796388	0.914000	0.31030	0.998000	0.56505	0.860000	0.49131	1.375000	0.34295	0.870000	0.35726	0.558000	0.71614	CGC		0.627	MAP4K1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000453390.1	NM_001042600	
ACTN4	81	broad.mit.edu	37	19	39219650	39219650	+	Silent	SNP	C	C	T			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr19:39219650C>T	ENST00000252699.2	+	20	2509	c.2433C>T	c.(2431-2433)ttC>ttT	p.F811F	ACTN4_ENST00000424234.2_Silent_p.F421F|ACTN4_ENST00000390009.3_Silent_p.F592F|ACTN4_ENST00000497637.1_3'UTR	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	811	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.|Mediates interaction with MICALL2. {ECO:0000250}.				actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cellular component movement (GO:0051272)|positive regulation of pinocytosis (GO:0048549)|positive regulation of sodium:proton antiporter activity (GO:0032417)|protein localization to tight junction (GO:1902396)|protein transport (GO:0015031)|regulation of apoptotic process (GO:0042981)|response to hypoxia (GO:0001666)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|protein complex (GO:0043234)|pseudopodium (GO:0031143)|ribonucleoprotein complex (GO:0030529)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|nucleoside binding (GO:0001882)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			AGGCCGAGTTCAACCGCATCA	0.632																																					Colon(168;199 1940 10254 46213 46384)	uc002oja.2																			0				NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30						c.(2431-2433)ttC>ttT		Homo sapiens actinin, alpha 4 (ACTN4), mRNA.							109.0	85.0	93.0					19																	39219650		2203	4300	6503	SO:0001819	synonymous_variant	81				platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity	g.chr19:39219650C>T	D89980	CCDS12518.1	19q13	2013-01-10			ENSG00000130402	ENSG00000130402		"""EF-hand domain containing"""	166	protein-coding gene	gene with protein product		604638	"""focal segmental glomerulosclerosis 1"""	FSGS1		9461087, 10700177	Standard	NM_004924		Approved		uc002oja.2	O43707	OTTHUMG00000137382	ENST00000252699.2:c.2433C>T	19.37:g.39219650C>T						ACTN4_uc021uug.1_Silent_p.F592F	p.F811F	NM_004924	NP_004915	O43707	ACTN4_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		19	2552	+	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		811			EF-hand 2.		A4K467|D6PXK4|O76048	Silent	SNP	ENST00000252699.2	37	c.2433C>T	CCDS12518.1																																																																																				0.632	ACTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268091.1		
NCCRP1	342897	broad.mit.edu	37	19	39691346	39691346	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr19:39691346C>T	ENST00000339852.4	+	6	800	c.778C>T	c.(778-780)Cgg>Tgg	p.R260W		NM_001001414.1	NP_001001414.1	Q6ZVX7	FBX50_HUMAN	non-specific cytotoxic cell receptor protein 1 homolog (zebrafish)	260	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.				positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	10						TGGTGGGCTGCGGCGGACACG	0.622																																					Melanoma(107;1207 1556 14956 29427 52130)	uc002okq.1																			0		p.R260R(1)		kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	10						c.(778-780)Cgg>Tgg		Homo sapiens non-specific cytotoxic cell receptor protein 1 homolog (zebrafish) (NCCRP1), mRNA.							183.0	174.0	177.0					19																	39691346		2203	4300	6503	SO:0001583	missense	342897				protein catabolic process			g.chr19:39691346C>T	AK123941, BC067874	CCDS12529.1	19q13.2	2013-07-31	2008-11-19		ENSG00000188505	ENSG00000188505			33739	protein-coding gene	gene with protein product		615901					Standard	NM_001001414		Approved	LOC342897, NCCRP-1, FBXO50	uc002okq.1	Q6ZVX7		ENST00000339852.4:c.778C>T	19.37:g.39691346C>T	ENSP00000342137:p.Arg260Trp						p.R260W	NM_001001414	NP_001001414	Q6ZVX7	NCRP1_HUMAN			5	797	+			260			FBA.		Q6NVV5	Missense_Mutation	SNP	ENST00000339852.4	37	c.778C>T	CCDS12529.1	.	.	.	.	.	.	.	.	.	.	C	14.74	2.625842	0.46840	.	.	ENSG00000188505	ENST00000339852	T	0.28666	1.6	4.96	3.92	0.45320	Galactose-binding domain-like (1);F-box associated (FBA) domain (2);	0.857164	0.10567	N	0.659550	T	0.28962	0.0719	L	0.44542	1.39	0.35539	D	0.802927	B	0.18461	0.028	B	0.17722	0.019	T	0.21280	-1.0250	10	0.56958	D	0.05	-17.9043	11.0185	0.47705	0.0:0.9076:0.0:0.0924	.	260	Q6ZVX7	NCRP1_HUMAN	W	260	ENSP00000342137:R260W	ENSP00000342137:R260W	R	+	1	2	NCCRP1	44383186	0.960000	0.32886	0.905000	0.35620	0.077000	0.17291	2.206000	0.42779	1.094000	0.41399	0.484000	0.47621	CGG		0.622	NCCRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463829.1	NM_001001414	
FCGBP	8857	broad.mit.edu	37	19	40396029	40396029	+	Silent	SNP	C	C	T	rs587716286		TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr19:40396029C>T	ENST00000221347.6	-	15	7375	c.7368G>A	c.(7366-7368)tcG>tcA	p.S2456S		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2456	VWFD 6. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGGGATCTCCCGACGCCTGGC	0.682													C|||	1	0.000199681	0.0008	0.0	5008	,	,		22097	0.0		0.0	False		,,,				2504	0.0					uc002omp.4																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(7366-7368)tcG>tcA		Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.							91.0	64.0	73.0					19																	40396029		2178	3880	6058	SO:0001819	synonymous_variant	8857					extracellular region	protein binding	g.chr19:40396029C>T	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.7368G>A	19.37:g.40396029C>T							p.S2456S	NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		14	7376	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		2456			VWFD 6.		O95784	Silent	SNP	ENST00000221347.6	37	c.7368G>A	CCDS12546.1																																																																																				0.682	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890	
ZNF526	116115	broad.mit.edu	37	19	42730234	42730234	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr19:42730234C>T	ENST00000301215.3	+	3	1904	c.1679C>T	c.(1678-1680)cCc>cTc	p.P560L		NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN	zinc finger protein 526	560					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				GCCCGCGCCCCCCGCCTCCCC	0.652																																						uc002osz.1																			0				autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22						c.(1678-1680)cCc>cTc		Homo sapiens zinc finger protein 526 (ZNF526), mRNA.							37.0	39.0	38.0					19																	42730234		2203	4300	6503	SO:0001583	missense	116115				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:42730234C>T	AB075831	CCDS12598.1	19q13.31	2013-01-08				ENSG00000167625		"""Zinc fingers, C2H2-type"""	29415	protein-coding gene	gene with protein product		614387				11853319	Standard	NM_133444		Approved	KIAA1951, MGC4267	uc002osz.1	Q8TF50		ENST00000301215.3:c.1679C>T	19.37:g.42730234C>T	ENSP00000301215:p.Pro560Leu					ZNF526_uc021uvc.1_Missense_Mutation_p.P560L	p.P560L	NM_133444	NP_597701	Q8TF50	ZN526_HUMAN			2	1835	+		Prostate(69;0.0704)	560					B3KV29|Q69YI2|Q96E24	Missense_Mutation	SNP	ENST00000301215.3	37	c.1679C>T	CCDS12598.1	.	.	.	.	.	.	.	.	.	.	C	15.79	2.938529	0.52972	.	.	ENSG00000167625	ENST00000437878;ENST00000301215	T	0.10860	2.83	4.76	1.28	0.21552	.	0.543451	0.17367	N	0.176812	T	0.03959	0.0111	N	0.08118	0	0.36928	D	0.891755	B	0.18863	0.031	B	0.16289	0.015	T	0.39961	-0.9588	10	0.07030	T	0.85	-19.2193	6.4306	0.21794	0.4703:0.445:0.0:0.0847	.	560	Q8TF50	ZN526_HUMAN	L	416;560	ENSP00000301215:P560L	ENSP00000301215:P560L	P	+	2	0	ZNF526	47422074	0.987000	0.35691	0.799000	0.32177	0.921000	0.55340	1.203000	0.32284	0.283000	0.22279	0.561000	0.74099	CCC		0.652	ZNF526-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463681.2	XM_057401	
CCDC85A	114800	broad.mit.edu	37	2	56599613	56599613	+	Splice_Site	SNP	G	G	A			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr2:56599613G>A	ENST00000407595.2	+	4	1954	c.1452G>A	c.(1450-1452)ccG>ccA	p.P484P	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	484										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CTACTCTCCCGGTGAGTGAAG	0.517																																						uc002rzn.3																			0				breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38						c.e4+1		Homo sapiens coiled-coil domain containing 85A (CCDC85A), mRNA.							34.0	38.0	36.0					2																	56599613		2000	4174	6174	SO:0001630	splice_region_variant	114800							g.chr2:56599613G>A	AB067499	CCDS46290.1	2p16.1	2006-03-29			ENSG00000055813	ENSG00000055813			29400	protein-coding gene	gene with protein product						11572484	Standard	NM_001080433		Approved	KIAA1912	uc002rzn.3	Q96PX6	OTTHUMG00000152033	ENST00000407595.2:c.1452+1G>A	2.37:g.56599613G>A						CCDC85A_uc021vhw.1_Intron	p.P484_splice	NM_001080433	NP_001073902	Q96PX6	CC85A_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		4	1954	+			484						Silent	SNP	ENST00000407595.2	37	c.1452_splice	CCDS46290.1																																																																																				0.517	CCDC85A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324993.1		Silent
BCL11A	53335	broad.mit.edu	37	2	60688423	60688423	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr2:60688423C>T	ENST00000335712.6	-	4	1851	c.1624G>A	c.(1624-1626)Gcc>Acc	p.A542T	BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000538214.1_Missense_Mutation_p.A508T|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000356842.4_Missense_Mutation_p.A542T|BCL11A_ENST00000537768.1_Missense_Mutation_p.A211T|BCL11A_ENST00000358510.4_Missense_Mutation_p.A508T	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	542					B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TCGGGCAGGGCGCGGCTCTCG	0.701			T	IGH@	B-CLL																																	uc002sae.1				Dom	yes		2	2p13	53335	T	B-cell CLL/lymphoma 11A			L	IGH@		B-CLL		0				NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59						c.(1624-1626)Gcc>Acc		Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA.							17.0	17.0	17.0					2																	60688423		2192	4280	6472	SO:0001583	missense	53335				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	g.chr2:60688423C>T	AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"""Zinc fingers, C2H2-type"""	13221	protein-coding gene	gene with protein product		606557	"""ecotropic viral integration site 9"""	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.1624G>A	2.37:g.60688423C>T	ENSP00000338774:p.Ala542Thr					BCL11A_uc002sab.3_Missense_Mutation_p.A542T|BCL11A_uc002sac.3_Intron|BCL11A_uc010ypi.2_Missense_Mutation_p.A211T|BCL11A_uc010ypj.2_Missense_Mutation_p.A508T|BCL11A_uc002sad.1_Missense_Mutation_p.A390T|BCL11A_uc002saf.1_Missense_Mutation_p.A508T	p.A542T	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		3	1852	-			542					D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Missense_Mutation	SNP	ENST00000335712.6	37	c.1624G>A	CCDS1862.1	.	.	.	.	.	.	.	.	.	.	C	2.212	-0.380501	0.05000	.	.	ENSG00000119866	ENST00000356842;ENST00000378117;ENST00000538214;ENST00000537768;ENST00000335712;ENST00000358510	T;T;T;T;T	0.08282	3.11;3.4;3.28;3.4;3.34	5.46	-0.305	0.12784	.	5.843420	0.00659	N	0.000591	T	0.04815	0.0130	N	0.14661	0.345	0.30836	N	0.736239	B;B;B;B;B	0.33549	0.362;0.003;0.0;0.057;0.417	B;B;B;B;B	0.27170	0.077;0.002;0.001;0.008;0.054	T	0.25779	-1.0122	10	0.34782	T	0.22	2.2061	3.1564	0.06505	0.2503:0.326:0.3348:0.0888	.	508;211;508;542;542	F5H2Y4;B4DT16;Q9H165-6;Q9H165;D9YZV9	.;.;.;BC11A_HUMAN;.	T	542;567;508;211;542;508	ENSP00000349300:A542T;ENSP00000438303:A508T;ENSP00000443712:A211T;ENSP00000338774:A542T;ENSP00000351307:A508T	ENSP00000338774:A542T	A	-	1	0	BCL11A	60541927	0.977000	0.34250	0.785000	0.31869	0.090000	0.18270	2.468000	0.45102	0.014000	0.14944	-0.142000	0.14014	GCC		0.701	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	NM_022893	
SGPP2	130367	broad.mit.edu	37	2	223423423	223423423	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr2:223423423C>T	ENST00000321276.7	+	5	1092	c.1006C>T	c.(1006-1008)Ctc>Ttc	p.L336F		NM_152386.2	NP_689599.2	Q8IWX5	SGPP2_HUMAN	sphingosine-1-phosphate phosphatase 2	336					dephosphorylation (GO:0016311)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	sphingosine-1-phosphate phosphatase activity (GO:0042392)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	18		Renal(207;0.0376)		Epithelial(121;2.08e-09)|all cancers(144;9.25e-07)|LUSC - Lung squamous cell carcinoma(224;0.011)|Lung(261;0.0143)		TGTGTTGATCCTCTTGGTTCG	0.478																																						uc010zlo.2																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	18						c.(1006-1008)Ctc>Ttc		Homo sapiens sphingosine-1-phosphate phosphatase 2 (SGPP2), mRNA.							126.0	117.0	120.0					2																	223423423		2203	4300	6503	SO:0001583	missense	130367				sphingosine metabolic process	endoplasmic reticulum membrane|integral to membrane	dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity	g.chr2:223423423C>T	AF542512	CCDS2453.1	2q36.3	2010-05-26	2010-05-26		ENSG00000163082	ENSG00000163082			19953	protein-coding gene	gene with protein product		612827				12411432	Standard	NM_152386		Approved	SPP2, FLJ39004	uc010zlo.2	Q8IWX5	OTTHUMG00000133156	ENST00000321276.7:c.1006C>T	2.37:g.223423423C>T	ENSP00000315137:p.Leu336Phe					SGPP2_uc010zlp.2_Missense_Mutation_p.L208F	p.L336F	NM_152386	NP_689599	Q8IWX5	SGPP2_HUMAN		Epithelial(121;2.08e-09)|all cancers(144;9.25e-07)|LUSC - Lung squamous cell carcinoma(224;0.011)|Lung(261;0.0143)	4	1006	+		Renal(207;0.0376)	336					A3KPB4|Q8N8Q6	Missense_Mutation	SNP	ENST00000321276.7	37	c.1006C>T	CCDS2453.1	.	.	.	.	.	.	.	.	.	.	C	13.15	2.151424	0.38021	.	.	ENSG00000163082	ENST00000321276	.	.	.	5.4	3.27	0.37495	.	0.241765	0.35407	N	0.003234	T	0.43743	0.1261	L	0.34521	1.04	0.46654	D	0.999146	B	0.19331	0.035	B	0.15484	0.013	T	0.29027	-1.0025	9	0.21014	T	0.42	-23.0354	12.9184	0.58218	0.0:0.8458:0.0:0.1542	.	336	Q8IWX5	SGPP2_HUMAN	F	336	.	ENSP00000315137:L336F	L	+	1	0	SGPP2	223131667	0.777000	0.28628	0.999000	0.59377	0.996000	0.88848	0.137000	0.15995	1.290000	0.44636	0.655000	0.94253	CTC		0.478	SGPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256856.2		
NCOA6	23054	broad.mit.edu	37	20	33364240	33364240	+	Missense_Mutation	SNP	G	G	T			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr20:33364240G>T	ENST00000374796.2	-	5	2817	c.247C>A	c.(247-249)Cta>Ata	p.L83I	NCOA6_ENST00000359003.2_Missense_Mutation_p.L83I			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	83	CREBBP-binding region.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						TGTACTTTTAGCTTGCTGGAC	0.438																																						uc002xav.3																			0				NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(247-249)Cta>Ata		Homo sapiens nuclear receptor coactivator 6 (NCOA6), transcript variant 1, mRNA.							79.0	76.0	77.0					20																	33364240		2203	4300	6503	SO:0001583	missense	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33364240G>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.247C>A	20.37:g.33364240G>T	ENSP00000363929:p.Leu83Ile					NCOA6_uc002xaw.3_Missense_Mutation_p.L83I|NCOA6_uc021wcd.1_Missense_Mutation_p.L83I|NCOA6_uc021wce.1_Missense_Mutation_p.L83I|NCOA6_uc021wcf.1_Missense_Mutation_p.L83I|NCOA6_uc010gew.1_Missense_Mutation_p.L83I	p.L83I	NM_014071	NP_054790	Q14686	NCOA6_HUMAN			4	2818	-			83			CREBBP-binding region.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Missense_Mutation	SNP	ENST00000374796.2	37	c.247C>A	CCDS13241.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.920816	0.92249	.	.	ENSG00000198646	ENST00000374796;ENST00000359003;ENST00000397675	T;T	0.40476	1.03;1.03	5.76	5.76	0.90799	.	0.000000	0.51477	D	0.000083	T	0.58764	0.2145	L	0.57536	1.79	0.52501	D	0.999959	D;P	0.67145	0.996;0.727	D;P	0.80764	0.994;0.67	T	0.59643	-0.7416	10	0.87932	D	0	-9.8487	11.3404	0.49529	0.1094:0.0:0.8906:0.0	.	83;83	F6M2K2;Q14686	.;NCOA6_HUMAN	I	83	ENSP00000363929:L83I;ENSP00000351894:L83I	ENSP00000351894:L83I	L	-	1	2	NCOA6	32827901	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	3.073000	0.50057	2.882000	0.98803	0.655000	0.94253	CTA		0.438	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071	
SPO11	23626	broad.mit.edu	37	20	55908298	55908298	+	Missense_Mutation	SNP	C	C	G			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr20:55908298C>G	ENST00000371263.3	+	3	409	c.300C>G	c.(298-300)atC>atG	p.I100M	SPO11_ENST00000345868.4_Missense_Mutation_p.I62M|SPO11_ENST00000371260.4_Missense_Mutation_p.I62M	NM_012444.2	NP_036576.1	Q9Y5K1	SPO11_HUMAN	SPO11 meiotic protein covalently bound to DSB	100					DNA catabolic process, endonucleolytic (GO:0000737)|female gamete generation (GO:0007292)|male meiosis I (GO:0007141)|ovarian follicle development (GO:0001541)|protein localization to chromosome (GO:0034502)|reciprocal meiotic recombination (GO:0007131)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|hydrolase activity (GO:0016787)	p.I100I(1)		autonomic_ganglia(1)|breast(3)|large_intestine(4)|lung(8)|skin(2)	18	Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09)			CCAGAAAGATCAAAAGTGATT	0.303								Editing and processing nucleases																														uc002xye.3																			1	Substitution - coding silent(1)	p.I100I(2)	large_intestine(1)	autonomic_ganglia(1)|breast(3)|large_intestine(4)|lung(8)|skin(2)	18						c.(298-300)atC>atG	Editing and processing nucleases	Homo sapiens SPO11 meiotic protein covalently bound to DSB homolog (S. cerevisiae) (SPO11), transcript variant 1, mRNA.							78.0	83.0	81.0					20																	55908298		2203	4299	6502	SO:0001583	missense	23626				female gamete generation|reciprocal meiotic recombination	chromosome|nucleus	ATP binding|DNA binding|hydrolase activity	g.chr20:55908298C>G	AF169385	CCDS13456.1, CCDS13457.1	20q13.31	2013-06-05	2013-06-05		ENSG00000054796	ENSG00000054796			11250	protein-coding gene	gene with protein product	"""cancer/testis antigen 35"", ""spermatogenesis associated 43"""	605114	"""SPO11, meiotic protein covalently bound to DSB (S. cerevisiae)-like"", ""SPO11 meiotic protein covalently bound to DSB-like (S. cerevisiae)"", ""SPO11 meiotic protein covalently bound to DSB homolog (S. cerevisiae)"""			10534401	Standard	NM_012444		Approved	CT35, SPATA43, TOPVIA	uc002xye.3	Q9Y5K1	OTTHUMG00000032817	ENST00000371263.3:c.300C>G	20.37:g.55908298C>G	ENSP00000360310:p.Ile100Met					SPO11_uc002xyf.3_Missense_Mutation_p.I62M	p.I100M	NM_012444	NP_036576	Q9Y5K1	SPO11_HUMAN	BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09)		2	393	+	Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242)		100					Q5TCI1|Q8N4V0|Q9NQM7|Q9NQM8	Missense_Mutation	SNP	ENST00000371263.3	37	c.300C>G	CCDS13456.1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.523176	0.44866	.	.	ENSG00000054796	ENST00000371263;ENST00000345868;ENST00000371260;ENST00000418127	T;T;T;T	0.18960	2.18;2.21;2.2;2.19	5.39	4.38	0.52667	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.371908	0.30930	N	0.008583	T	0.29556	0.0737	L	0.53249	1.67	0.32383	N	0.554346	P;P	0.51351	0.944;0.922	P;P	0.54629	0.757;0.653	T	0.17930	-1.0353	10	0.34782	T	0.22	-12.2568	8.5424	0.33402	0.2156:0.6477:0.1367:0.0	.	62;100	Q9Y5K1-2;Q9Y5K1	.;SPO11_HUMAN	M	100;62;62;78	ENSP00000360310:I100M;ENSP00000316034:I62M;ENSP00000360307:I62M;ENSP00000413185:I78M	ENSP00000316034:I62M	I	+	3	3	SPO11	55341705	0.792000	0.28813	1.000000	0.80357	0.715000	0.41141	0.143000	0.16115	2.702000	0.92279	0.591000	0.81541	ATC		0.303	SPO11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079836.2	NM_012444	
OSBPL2	9885	broad.mit.edu	37	20	60831247	60831247	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr20:60831247G>A	ENST00000313733.3	+	2	209	c.7G>A	c.(7-9)Gga>Aga	p.G3R	OSBPL2_ENST00000439951.2_5'UTR|OSBPL2_ENST00000358053.2_Missense_Mutation_p.G3R	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	3					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			AAGGATGAACGGAGAGGAAGA	0.483																																						uc002yck.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(7-9)Gga>Aga		Homo sapiens oxysterol binding protein-like 2 (OSBPL2), transcript variant 2, mRNA.							118.0	93.0	102.0					20																	60831247		2203	4300	6503	SO:0001583	missense	9885				lipid transport		lipid binding	g.chr20:60831247G>A	AB018315	CCDS13494.1, CCDS13495.1, CCDS63323.1	20q13.3	2008-08-01	2001-11-28		ENSG00000130703	ENSG00000130703		"""Oxysterol binding proteins"""	15761	protein-coding gene	gene with protein product		606731	"""oxysterol-binding protein-like 2"""			10588946, 11861666	Standard	NM_144498		Approved	KIAA0772, ORP-2	uc002yck.1	Q9H1P3	OTTHUMG00000032909	ENST00000313733.3:c.7G>A	20.37:g.60831247G>A	ENSP00000316649:p.Gly3Arg					OSBPL2_uc002ycl.1_Missense_Mutation_p.G3R|OSBPL2_uc011aah.1_5'UTR	p.G3R	NM_144498	NP_653081	Q9H1P3	OSBL2_HUMAN	BRCA - Breast invasive adenocarcinoma(19;1.33e-06)		1	209	+	Breast(26;7.76e-09)		3					A8K736|Q6IBT0|Q9BZB1|Q9Y4B8	Missense_Mutation	SNP	ENST00000313733.3	37	c.7G>A	CCDS13495.1	.	.	.	.	.	.	.	.	.	.	G	17.06	3.291788	0.59976	.	.	ENSG00000130703	ENST00000358053;ENST00000313733	T;T	0.44083	0.95;0.93	5.41	3.28	0.37604	.	0.316549	0.35262	N	0.003330	T	0.27419	0.0673	N	0.22421	0.69	0.80722	D	1	P;P	0.45768	0.866;0.789	P;B	0.44772	0.46;0.271	T	0.10941	-1.0608	10	0.66056	D	0.02	-18.4542	1.9496	0.03364	0.2415:0.0:0.4487:0.3099	.	3;3	Q9H1P3-2;Q9H1P3	.;OSBL2_HUMAN	R	3	ENSP00000350755:G3R;ENSP00000316649:G3R	ENSP00000316649:G3R	G	+	1	0	OSBPL2	60264642	1.000000	0.71417	0.965000	0.40720	0.917000	0.54804	2.537000	0.45702	0.544000	0.28883	0.561000	0.74099	GGA		0.483	OSBPL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080021.1	NM_014835	
PIWIL3	440822	broad.mit.edu	37	22	25150829	25150829	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr22:25150829G>A	ENST00000332271.5	-	7	1111	c.695C>T	c.(694-696)aCt>aTt	p.T232I	PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000533313.1_Missense_Mutation_p.T123I|PIWIL3_ENST00000527701.1_Missense_Mutation_p.T123I	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	232					cell differentiation (GO:0030154)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CAGCTTGAAAGTTCTGGAAAT	0.333																																						uc003abd.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(694-696)aCt>aTt		Homo sapiens piwi-like 3 (Drosophila) (PIWIL3), transcript variant 1, mRNA.							90.0	93.0	92.0					22																	25150829		2203	4300	6503	SO:0001583	missense	440822				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding	g.chr22:25150829G>A	AB079368	CCDS33623.1	22q11.23	2013-02-15	2013-02-15		ENSG00000184571	ENSG00000184571		"""Argonaute/PIWI family"""	18443	protein-coding gene	gene with protein product		610314	"""piwi-like 3 (Drosophila)"""			12906857	Standard	NM_001008496		Approved	HIWI3	uc003abd.2	Q7Z3Z3	OTTHUMG00000150788	ENST00000332271.5:c.695C>T	22.37:g.25150829G>A	ENSP00000330031:p.Thr232Ile					PIWIL3_uc011ajx.1_Missense_Mutation_p.T123I|PIWIL3_uc010gut.1_Missense_Mutation_p.T232I|PIWIL3_uc011ajy.1_Missense_Mutation_p.T123I	p.T232I	NM_001008496	NP_001008496	Q7Z3Z3	PIWL3_HUMAN			6	1112	-			232						Missense_Mutation	SNP	ENST00000332271.5	37	c.695C>T	CCDS33623.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.362695	0.00212	.	.	ENSG00000184571	ENST00000332271;ENST00000533313;ENST00000527701	T;T;T	0.08102	3.13;3.13;3.13	2.41	-1.07	0.09968	Argonaute/Dicer protein, PAZ (1);	0.577847	0.17198	N	0.183243	T	0.01061	0.0035	N	0.00068	-2.285	0.09310	N	1	B;B;B	0.09022	0.002;0.002;0.002	B;B;B	0.09377	0.002;0.004;0.002	T	0.43572	-0.9383	10	0.02654	T	1	-1.3307	5.8902	0.18909	0.4815:0.0:0.5185:0.0	.	123;232;232	E9PIP6;B4DYF7;Q7Z3Z3	.;.;PIWL3_HUMAN	I	232;123;123	ENSP00000330031:T232I;ENSP00000431843:T123I;ENSP00000435718:T123I	ENSP00000330031:T232I	T	-	2	0	PIWIL3	23480829	0.999000	0.42202	0.057000	0.19452	0.002000	0.02628	1.143000	0.31553	-0.325000	0.08577	-0.391000	0.06502	ACT		0.333	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320084.2	NM_001008496	
PKDREJ	10343	broad.mit.edu	37	22	46655574	46655574	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr22:46655574C>T	ENST00000253255.5	-	1	3645	c.3646G>A	c.(3646-3648)Ggg>Agg	p.G1216R		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1216					acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		ATCACATGCCCCCGAAGATGC	0.448																																						uc003bhh.3																			0				NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73						c.(3646-3648)Ggg>Agg		Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.							111.0	113.0	112.0					22																	46655574		2203	4300	6503	SO:0001583	missense	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46655574C>T	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.3646G>A	22.37:g.46655574C>T	ENSP00000253255:p.Gly1216Arg						p.G1216R	NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	0	3646	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	1216					B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	c.3646G>A	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	C	4.044	0.005752	0.07866	.	.	ENSG00000130943	ENST00000253255	T	0.37411	1.2	5.04	1.52	0.23074	.	1.051940	0.07427	N	0.895102	T	0.21509	0.0518	N	0.22421	0.69	0.09310	N	1	B	0.23540	0.087	B	0.16722	0.016	T	0.29212	-1.0019	10	0.15499	T	0.54	-4.0818	5.8175	0.18500	0.1301:0.3852:0.41:0.0746	.	1216	Q9NTG1	PKDRE_HUMAN	R	1216	ENSP00000253255:G1216R	ENSP00000253255:G1216R	G	-	1	0	PKDREJ	45034238	0.006000	0.16342	0.000000	0.03702	0.009000	0.06853	0.897000	0.28390	0.189000	0.20188	0.561000	0.74099	GGG		0.448	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071	
LHFPL4	375323	broad.mit.edu	37	3	9594193	9594193	+	Silent	SNP	G	G	T			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr3:9594193G>T	ENST00000287585.6	-	2	456	c.171C>A	c.(169-171)ggC>ggA	p.G57G	LHFPL4_ENST00000495730.1_5'Flank	NM_198560.2	NP_940962.1	Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 4	71						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(3)|skin(1)	10	Medulloblastoma(99;0.227)					GGCCGAAGTAGCCAGGCTTGG	0.652																																						uc003bry.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(3)|skin(1)	10						c.(169-171)ggC>ggA		Homo sapiens lipoma HMGIC fusion partner-like 4 (LHFPL4), mRNA.							45.0	51.0	49.0					3																	9594193		2203	4300	6503	SO:0001819	synonymous_variant	375323					integral to membrane		g.chr3:9594193G>T	AY278320	CCDS33691.1	3p25.3	2006-06-13			ENSG00000156959	ENSG00000156959			29568	protein-coding gene	gene with protein product		610240				15905332	Standard	NM_198560		Approved		uc003bry.3	Q7Z7J7	OTTHUMG00000155066	ENST00000287585.6:c.171C>A	3.37:g.9594193G>T							p.G57G	NM_198560	NP_940962	Q7Z7J7	LHPL4_HUMAN			1	457	-	Medulloblastoma(99;0.227)		57					A1L383|A4D0Q5	Silent	SNP	ENST00000287585.6	37	c.171C>A	CCDS33691.1																																																																																				0.652	LHFPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338298.1	NM_198560	
NPRL2	10641	broad.mit.edu	37	3	50386328	50386328	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr3:50386328G>A	ENST00000232501.3	-	5	1000	c.562C>T	c.(562-564)Cag>Tag	p.Q188*	CYB561D2_ENST00000232508.5_5'Flank|ZMYND10_ENST00000231749.3_5'Flank|CYB561D2_ENST00000418577.1_5'Flank|CYB561D2_ENST00000425346.1_5'Flank|NPRL2_ENST00000493465.1_5'Flank|XXcos-LUCA11.5_ENST00000606589.1_5'Flank|CYB561D2_ENST00000424512.1_5'Flank	NM_006545.4	NP_006536.3	Q8WTW4	NPRL2_HUMAN	nitrogen permease regulator-like 2 (S. cerevisiae)	188					negative regulation of kinase activity (GO:0033673)|protein phosphorylation (GO:0006468)		GTPase activator activity (GO:0005096)|protein kinase activity (GO:0004672)			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	11						AGGTCCCACTGTGAGTTGAAG	0.537																																						uc003daj.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	11						c.(562-564)Cag>Tag		Homo sapiens nitrogen permease regulator-like 2 (S. cerevisiae) (NPRL2), mRNA.							152.0	140.0	144.0					3																	50386328		2203	4300	6503	SO:0001587	stop_gained	10641				negative regulation of kinase activity		protein binding|protein kinase activity	g.chr3:50386328G>A	AF040708	CCDS2826.1	3p21.3	2010-03-30	2010-03-30	2010-03-30	ENSG00000114388	ENSG00000114388			24969	protein-coding gene	gene with protein product		607072	"""tumor suppressor candidate 4"""	TUSC4		11085536	Standard	NM_006545		Approved	NPR2L, NPR2	uc003daj.1	Q8WTW4	OTTHUMG00000156864	ENST00000232501.3:c.562C>T	3.37:g.50386328G>A	ENSP00000232501:p.Gln188*					CYB561D2_uc003dal.3_5'Flank|CYB561D2_uc003dam.3_5'Flank	p.Q188*	NM_006545	NP_006536	Q8WTW4	NPRL2_HUMAN			4	965	-			188					A8K831|Q6FGS2|Q9Y249|Q9Y497	Nonsense_Mutation	SNP	ENST00000232501.3	37	c.562C>T	CCDS2826.1	.	.	.	.	.	.	.	.	.	.	G	39	7.625877	0.98396	.	.	ENSG00000114388	ENST00000232501	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-12.4319	19.5689	0.95404	0.0:0.0:1.0:0.0	.	.	.	.	X	188	.	ENSP00000232501:Q188X	Q	-	1	0	NPRL2	50361332	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	9.777000	0.99008	2.626000	0.88956	0.655000	0.94253	CAG		0.537	NPRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346299.1	NM_006545	
NPRL2	10641	broad.mit.edu	37	3	50387415	50387416	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr3:50387415_50387416delTG	ENST00000232501.3	-	2	554_555	c.116_117delCA	c.(115-117)acafs	p.T39fs	CYB561D2_ENST00000232508.5_5'Flank|CYB561D2_ENST00000418577.1_5'Flank|CYB561D2_ENST00000425346.1_5'Flank|NPRL2_ENST00000493465.1_5'Flank|XXcos-LUCA11.5_ENST00000606589.1_5'Flank|CYB561D2_ENST00000424512.1_5'Flank	NM_006545.4	NP_006536.3	Q8WTW4	NPRL2_HUMAN	nitrogen permease regulator-like 2 (S. cerevisiae)	39	Interaction with PDPK1.				negative regulation of kinase activity (GO:0033673)|protein phosphorylation (GO:0006468)		GTPase activator activity (GO:0005096)|protein kinase activity (GO:0004672)			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	11						ACACTTGGACTGTGTCAAACAG	0.559																																						uc003daj.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	11						c.(115-117)acafs		Homo sapiens nitrogen permease regulator-like 2 (S. cerevisiae) (NPRL2), mRNA.																																				SO:0001589	frameshift_variant	10641				negative regulation of kinase activity		protein binding|protein kinase activity	g.chr3:50387415_50387416delTG	AF040708	CCDS2826.1	3p21.3	2010-03-30	2010-03-30	2010-03-30	ENSG00000114388	ENSG00000114388			24969	protein-coding gene	gene with protein product		607072	"""tumor suppressor candidate 4"""	TUSC4		11085536	Standard	NM_006545		Approved	NPR2L, NPR2	uc003daj.1	Q8WTW4	OTTHUMG00000156864	ENST00000232501.3:c.116_117delCA	3.37:g.50387417_50387418delTG	ENSP00000232501:p.Thr39fs					CYB561D2_uc003dal.3_5'Flank|CYB561D2_uc003dam.3_5'Flank	p.T39fs	NM_006545	NP_006536	Q8WTW4	NPRL2_HUMAN			1	519_520	-			39			Interaction with PDPK1.		A8K831|Q6FGS2|Q9Y249|Q9Y497	Frame_Shift_Del	DEL	ENST00000232501.3	37	c.116_117delCA	CCDS2826.1																																																																																				0.559	NPRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346299.1	NM_006545	
KLHL6	89857	broad.mit.edu	37	3	183226008	183226008	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr3:183226008G>A	ENST00000341319.3	-	3	783	c.748C>T	c.(748-750)Cga>Tga	p.R250*		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	250	BACK.				B cell receptor signaling pathway (GO:0050853)|germinal center formation (GO:0002467)					breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			AAGCAGAGTCGTTCTGATGGC	0.552																																						uc003flr.3																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(748-750)Cga>Tga		Homo sapiens kelch-like 6 (Drosophila) (KLHL6), mRNA.							161.0	141.0	148.0					3																	183226008		2203	4300	6503	SO:0001587	stop_gained	89857							g.chr3:183226008G>A	AF441792	CCDS3245.2	3q27.3	2013-01-30	2013-01-30		ENSG00000172578	ENSG00000172578		"""Kelch-like"", ""BTB/POZ domain containing"""	18653	protein-coding gene	gene with protein product	"""kelch-like protein KLHL6"""	614214	"""kelch-like 6 (Drosophila)"""			11214971, 12617994	Standard	NM_130446		Approved	FLJ00029	uc003flr.3	Q8WZ60	OTTHUMG00000148673	ENST00000341319.3:c.748C>T	3.37:g.183226008G>A	ENSP00000341342:p.Arg250*					KLHL6_uc003fls.1_Non-coding_Transcript|KLHL6_uc003flt.1_Nonsense_Mutation_p.R248*	p.R250*	NM_130446	NP_569713	Q8WZ60	KLHL6_HUMAN	all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)		2	806	-	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		250			BACK.		B2RB31|D3DNS8|Q8N5I1|Q8N892	Nonsense_Mutation	SNP	ENST00000341319.3	37	c.748C>T	CCDS3245.2	.	.	.	.	.	.	.	.	.	.	G	36	5.844758	0.97016	.	.	ENSG00000172578	ENST00000341319	.	.	.	5.87	3.95	0.45737	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.3164	0.74081	0.0:0.0:0.6375:0.3625	.	.	.	.	X	250	.	ENSP00000341342:R250X	R	-	1	2	KLHL6	184708702	0.946000	0.32159	0.985000	0.45067	0.958000	0.62258	1.228000	0.32588	1.582000	0.49881	0.655000	0.94253	CGA		0.552	KLHL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309024.1	NM_130446	
PDS5A	23244	broad.mit.edu	37	4	39865056	39865056	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr4:39865056C>T	ENST00000303538.8	-	24	3205	c.2666G>A	c.(2665-2667)cGa>cAa	p.R889Q		NM_001100399.1	NP_001093869.1			PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)											breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						AGCAGCTAATCGCAAGCGAGA	0.348																																						uc003guv.4																			0				breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						c.(2665-2667)cGa>cAa		Homo sapiens PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae) (PDS5A), transcript variant 1, mRNA.							69.0	66.0	67.0					4																	39865056		1860	4109	5969	SO:0001583	missense	23244				cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding	g.chr4:39865056C>T	AF294791	CCDS47045.1, CCDS54759.1	4p14	2007-06-20			ENSG00000121892	ENSG00000121892			29088	protein-coding gene	gene with protein product		613200				11076961, 15855230	Standard	NM_001100399		Approved	KIAA0648, PIG54, SCC-112	uc003guv.4	Q29RF7	OTTHUMG00000160582	ENST00000303538.8:c.2666G>A	4.37:g.39865056C>T	ENSP00000303427:p.Arg889Gln						p.R889Q	NM_001100399	NP_001093869	Q29RF7	PDS5A_HUMAN			23	3206	-			889						Missense_Mutation	SNP	ENST00000303538.8	37	c.2666G>A	CCDS47045.1	.	.	.	.	.	.	.	.	.	.	C	36	5.726650	0.96847	.	.	ENSG00000121892	ENST00000303538	T	0.70869	-0.52	5.21	5.21	0.72293	Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	D	0.85195	0.5641	M	0.79926	2.475	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85930	0.1451	9	.	.	.	-5.9805	18.7467	0.91795	0.0:1.0:0.0:0.0	.	889	Q29RF7	PDS5A_HUMAN	Q	889	ENSP00000303427:R889Q	.	R	-	2	0	PDS5A	39541451	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.432000	0.82394	0.655000	0.94253	CGA		0.348	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361287.1	NM_015200	
FRAS1	80144	broad.mit.edu	37	4	79350365	79350365	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr4:79350365G>A	ENST00000325942.6	+	36	5268	c.4828G>A	c.(4828-4830)Ggc>Agc	p.G1610S	FRAS1_ENST00000264895.6_Missense_Mutation_p.G1610S	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	1610					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CAGCCCAGGAGGCAGCACTTC	0.527																																						uc003hlb.2																			0		p.G1610G(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(4828-4830)Ggc>Agc		Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.							44.0	46.0	46.0					4																	79350365		2036	4181	6217	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79350365G>A	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.4828G>A	4.37:g.79350365G>A	ENSP00000326330:p.Gly1610Ser					FRAS1_uc003hkw.3_Missense_Mutation_p.G1610S|FRAS1_uc010ijj.2_Missense_Mutation_p.G30S	p.G1610S	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN			35	5268	+			1609					A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000325942.6	37	c.4828G>A	CCDS54772.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.65|19.65	3.866883|3.866883	0.72065|0.72065	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000325942;ENST00000264895;ENST00000545316|ENST00000510944	T;T|.	0.58652|.	0.32;0.32|.	5.61|5.61	5.61|5.61	0.85477|0.85477	.|.	0.056139|.	0.64402|.	D|.	0.000001|.	T|T	0.75561|0.75561	0.3866|0.3866	M|M	0.69185|0.69185	2.1|2.1	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.998;1.0|.	D;D|.	0.76071|.	0.924;0.987|.	T|T	0.73316|0.73316	-0.4021|-0.4021	10|5	0.66056|.	D|.	0.02|.	.|.	19.6299|19.6299	0.95698|0.95698	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1610;1610|.	E9PHH6;A2RRR8|.	.;.|.	S|K	1610;1610;30|59	ENSP00000326330:G1610S;ENSP00000264895:G1610S|.	ENSP00000264895:G1610S|.	G|R	+|+	1|2	0|0	FRAS1|FRAS1	79569389|79569389	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.119000|0.119000	0.20118|0.20118	7.305000|7.305000	0.78891|0.78891	2.639000|2.639000	0.89480|0.89480	0.655000|0.655000	0.94253|0.94253	GGC|AGG		0.527	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2		
KLHL2	11275	broad.mit.edu	37	4	166200284	166200284	+	Intron	SNP	G	G	A			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr4:166200284G>A	ENST00000226725.6	+	6	803				KLHL2_ENST00000514860.1_Intron|KLHL2_ENST00000509028.1_Intron|KLHL2_ENST00000506761.1_Intron|KLHL2_ENST00000538127.1_Intron|KLHL2_ENST00000421009.2_Intron	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN	kelch-like family member 2						protein ubiquitination (GO:0016567)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		AAAAGAGCTCGTTTTTCTTCA	0.453																																						uc003ird.3																			0				central_nervous_system(1)|large_intestine(3)	4						c.(514-516)Cga>Tga		Homo sapiens glycerol kinase (GK), transcript variant 2, mRNA.																																				SO:0001627	intron_variant	2713				glycerol-3-phosphate metabolic process|triglyceride biosynthetic process	cytosol|mitochondrial outer membrane	ATP binding|glycerol kinase activity	g.chr4:166200284G>A	AF059569	CCDS34094.1, CCDS54815.1, CCDS54816.1	4q21.2	2013-01-30	2013-01-30		ENSG00000109466	ENSG00000109466		"""Kelch-like"", ""BTB/POZ domain containing"""	6353	protein-coding gene	gene with protein product	"""mayven"""	605774	"""kelch (Drosophila)-like 2 (Mayven)"", ""kelch-like 2, Mayven (Drosophila)"""			10397770, 16035103	Standard	NM_007246		Approved	MAV	uc011cjm.2	O95198	OTTHUMG00000161294	ENST00000226725.6:c.545-15227G>A	4.37:g.166200284G>A						KLHL2_uc003irb.3_Intron|KLHL2_uc011cjm.2_Intron|KLHL2_uc003irc.3_Intron|KLHL2_uc010ira.3_Intron	p.R172*	NM_000167	NP_000158	P32189	GLPK_HUMAN			0	892	-			172					A6NCM7|B2RD18|B4DFH7|F5H6M3|Q8N484|Q8TBH5	Nonsense_Mutation	SNP	ENST00000226725.6	37	c.514C>T	CCDS34094.1																																																																																				0.453	KLHL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364439.1		
TRIML1	339976	broad.mit.edu	37	4	189068102	189068102	+	Missense_Mutation	SNP	C	C	T	rs147254109		TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr4:189068102C>T	ENST00000332517.3	+	6	1123	c.983C>T	c.(982-984)gCg>gTg	p.A328V	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	328	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.A328V(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		GACCAGTCTGCGACTGTGCTG	0.537													c|||	1	0.000199681	0.0008	0.0	5008	,	,		17404	0.0		0.0	False		,,,				2504	0.0				Melanoma(31;213 1036 16579 23968 32372)	uc003izm.1																			1	Substitution - Missense(1)	p.A328V(2)	large_intestine(1)	NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60						c.(982-984)gCg>gTg		Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA.		C	VAL/ALA	2,4404	4.2+/-10.8	0,2,2201	98.0	92.0	94.0		983	4.9	1.0	4	dbSNP_134	94	0,8600		0,0,4300	no	missense	TRIML1	NM_178556.3	64	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	328/469	189068102	2,13004	2203	4300	6503	SO:0001583	missense	339976				multicellular organismal development		ligase activity|zinc ion binding	g.chr4:189068102C>T	AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"""RING-type (C3HC4) zinc fingers"""	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.983C>T	4.37:g.189068102C>T	ENSP00000327738:p.Ala328Val					TRIML1_uc003izn.1_Missense_Mutation_p.A52V	p.A328V	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)	5	1098	+		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)	328			B30.2/SPRY.		Q96BE5	Missense_Mutation	SNP	ENST00000332517.3	37	c.983C>T	CCDS3851.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	c	12.92	2.081718	0.36758	4.54E-4	0.0	ENSG00000184108	ENST00000332517	T	0.12147	2.71	4.92	4.92	0.64577	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	0.000000	0.53938	D	0.000060	T	0.11707	0.0285	L	0.42008	1.315	0.32138	N	0.585837	P	0.48834	0.916	B	0.42422	0.387	T	0.04041	-1.0982	10	0.17369	T	0.5	-22.406	9.4112	0.38494	0.0:0.9057:0.0:0.0943	.	328	Q8N9V2	TRIML_HUMAN	V	328	ENSP00000327738:A328V	ENSP00000327738:A328V	A	+	2	0	TRIML1	189305096	0.000000	0.05858	0.970000	0.41538	0.418000	0.31294	0.050000	0.14120	2.749000	0.94314	0.550000	0.68814	GCG		0.537	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359813.1	NM_178556	
DNAH5	1767	broad.mit.edu	37	5	13762882	13762882	+	Silent	SNP	C	C	T			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr5:13762882C>T	ENST00000265104.4	-	60	10334	c.10230G>A	c.(10228-10230)acG>acA	p.T3410T	DNAH5_ENST00000504001.3_5'UTR	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3410	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCATAGCTTTCGTCCAGGAAC	0.453									Kartagener syndrome																													uc003jfd.2																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(10228-10230)acG>acA		Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.							87.0	85.0	86.0					5																	13762882		2203	4300	6503	SO:0001819	synonymous_variant	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13762882C>T	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.10230G>A	5.37:g.13762882C>T						DNAH5_uc003jfc.2_5'UTR	p.T3410T	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			59	10272	-	Lung NSC(4;0.00476)		3410			Stalk (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	c.10230G>A	CCDS3882.1																																																																																				0.453	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	
OCLN	100506658	broad.mit.edu	37	5	68805301	68805301	+	Silent	SNP	C	C	T	rs150730577	byFrequency	TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr5:68805301C>T	ENST00000355237.2	+	3	820	c.384C>T	c.(382-384)taC>taT	p.Y128Y	OCLN_ENST00000380766.2_Silent_p.Y128Y|OCLN_ENST00000542132.1_Intron|OCLN_ENST00000538151.1_Intron|OCLN_ENST00000396442.2_Silent_p.Y128Y	NM_002538.3	NP_002529.1	Q16625	OCLN_HUMAN	occludin	128	Gly/Tyr-rich.|MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				apoptotic process (GO:0006915)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|protein complex assembly (GO:0006461)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethionine metabolic process (GO:0046500)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)|structural molecule activity (GO:0005198)|thiopurine S-methyltransferase activity (GO:0008119)			endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1)	6		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		gctatggctaCGGAGGCTATA	0.488																																						uc003jwu.3																			0		p.Y128H(1)		endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1)	6						c.(382-384)taC>taT		Homo sapiens occludin (OCLN), transcript variant 1, mRNA.		C	,,	3,4403	6.2+/-15.9	0,3,2200	123.0	95.0	105.0		384,,384	-10.0	0.1	5	dbSNP_134	105	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,intron,coding-synonymous	OCLN	NM_001205254.1,NM_001205255.1,NM_002538.3	,,	0,4,6499	TT,TC,CC		0.0116,0.0681,0.0308	,,	128/523,,128/523	68805301	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	4950				cellular component disassembly involved in apoptosis|protein complex assembly	integral to membrane|tight junction	protein binding|structural molecule activity	g.chr5:68805301C>T	U49184	CCDS4006.1, CCDS54864.1	5q13.1	2014-06-13			ENSG00000197822	ENSG00000197822			8104	protein-coding gene	gene with protein product	"""tight junction protein occludin TM4 minus"", ""phosphatase 1, regulatory subunit 115"""	602876				8601611	Standard	NM_002538		Approved	PPP1R115	uc003jwu.3	Q16625	OTTHUMG00000099356	ENST00000355237.2:c.384C>T	5.37:g.68805301C>T						OCLN_uc003jwv.4_Silent_p.Y128Y|OCLN_uc021xzq.1_Intron|OCLN_uc021xzr.1_Non-coding_Transcript|OCLN_uc021xzs.1_Intron|OCLN_uc021xzt.1_Intron	p.Y128Y	NM_002538	NP_001192184	Q16625	OCLN_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)	2	820	+		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)	128			Gly/Tyr-rich.|MARVEL.		B5BU70|D2DU64|D2DU65|D2IGC0|D2IGC1|E2CYV9|Q5U1V4|Q8N6K1	Silent	SNP	ENST00000355237.2	37	c.384C>T	CCDS4006.1																																																																																				0.488	OCLN-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216794.1	NM_002538	
ADAMTS19	171019	broad.mit.edu	37	5	129015540	129015540	+	Missense_Mutation	SNP	G	G	A	rs149851287		TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr5:129015540G>A	ENST00000274487.4	+	17	2717	c.2572G>A	c.(2572-2574)Gtt>Att	p.V858I	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	858	Spacer.					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)		TGGAACTACCGTTCATTATGT	0.433													G|||	1	0.000199681	0.0	0.0	5008	,	,		17177	0.0		0.001	False		,,,				2504	0.0					uc003kvb.1																			0				NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91						c.(2572-2574)Gtt>Att		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 19 (ADAMTS19), mRNA.		G	ILE/VAL	2,4404	4.2+/-10.8	0,2,2201	98.0	98.0	98.0		2572	3.7	0.6	5	dbSNP_134	98	0,8600		0,0,4300	yes	missense	ADAMTS19	NM_133638.3	29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	858/1208	129015540	2,13004	2203	4300	6503	SO:0001583	missense	171019				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:129015540G>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.2572G>A	5.37:g.129015540G>A	ENSP00000274487:p.Val858Ile					ADAMTS19_uc010jdh.1_Non-coding_Transcript	p.V858I	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)	16	2572	+		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	858			Spacer.			Missense_Mutation	SNP	ENST00000274487.4	37	c.2572G>A	CCDS4146.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	16.40	3.111945	0.56398	4.54E-4	0.0	ENSG00000145808	ENST00000274487	T	0.52057	0.68	4.54	3.67	0.42095	ADAM-TS Spacer 1 (1);	0.173640	0.35903	N	0.002903	T	0.37019	0.0988	N	0.26130	0.795	0.47698	D	0.999491	D	0.55385	0.971	P	0.44673	0.457	T	0.13442	-1.0509	9	.	.	.	.	13.4779	0.61318	0.0769:0.0:0.9231:0.0	.	858	Q8TE59	ATS19_HUMAN	I	858	ENSP00000274487:V858I	.	V	+	1	0	ADAMTS19	129043439	1.000000	0.71417	0.647000	0.29507	0.524000	0.34500	7.027000	0.76463	1.500000	0.48636	0.650000	0.86243	GTT		0.433	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638	
GPX5	2880	broad.mit.edu	37	6	28497279	28497279	+	Missense_Mutation	SNP	G	G	A	rs60523386	byFrequency	TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr6:28497279G>A	ENST00000412168.2	+	2	228	c.139G>A	c.(139-141)Gca>Aca	p.A47T	GPX6_ENST00000483058.1_5'Flank|GPX5_ENST00000469384.1_Missense_Mutation_p.A47T|GPX5_ENST00000442674.2_3'UTR	NM_001509.2	NP_001500.1	O75715	GPX5_HUMAN	glutathione peroxidase 5 (epididymal androgen-related protein)	47					lipid metabolic process (GO:0006629)|response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)	glutathione peroxidase activity (GO:0004602)	p.A47T(2)		endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	TGAGGCCATCGCACTTAATAA	0.428													G|||	30	0.00599042	0.0182	0.0	5008	,	,		17371	0.0		0.001	False		,,,				2504	0.0051					uc003nll.2																			2	Substitution - Missense(2)	p.A47T(4)	endometrium(2)	endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(139-141)Gca>Aca		Homo sapiens glutathione peroxidase 5 (epididymal androgen-related protein) (GPX5), transcript variant 1, mRNA.	Glutathione(DB00143)	G	THR/ALA,THR/ALA	38,4368	42.3+/-75.8	0,38,2165	164.0	135.0	145.0		139,139	-0.7	0.0	6	dbSNP_129	145	0,8600		0,0,4300	yes	missense,missense	GPX5	NM_001509.2,NM_003996.3	58,58	0,38,6465	AA,AG,GG		0.0,0.8625,0.2922	benign,benign	47/222,47/101	28497279	38,12968	2203	4300	6503	SO:0001583	missense	2880				lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity	g.chr6:28497279G>A	AJ005277	CCDS4652.1, CCDS4653.1	6p22.1	2008-02-05			ENSG00000224586	ENSG00000224586	1.11.1.9		4557	protein-coding gene	gene with protein product		603435				9639555	Standard	NM_001509		Approved		uc003nll.2	O75715	OTTHUMG00000016307	ENST00000412168.2:c.139G>A	6.37:g.28497279G>A	ENSP00000392398:p.Ala47Thr					GPX5_uc003nlm.2_Missense_Mutation_p.A47T|GPX5_uc003nln.2_Non-coding_Transcript	p.A47T	NM_001509	NP_001500	O75715	GPX5_HUMAN			1	141	+			47					A1A4Y0	Missense_Mutation	SNP	ENST00000412168.2	37	c.139G>A	CCDS4652.1	8	0.003663003663003663	7	0.014227642276422764	0	0.0	0	0.0	1	0.0013192612137203166	G	0.003	-2.575670	0.00131	0.008625	0.0	ENSG00000224586	ENST00000412168;ENST00000469384	T;T	0.03580	3.88;3.88	3.65	-0.659	0.11424	Thioredoxin-like fold (2);	0.262995	0.36482	N	0.002570	T	0.00210	0.0006	N	0.00260	-1.75	0.09310	N	1	B;B	0.12630	0.006;0.001	B;B	0.11329	0.006;0.003	T	0.25916	-1.0118	10	0.02654	T	1	-25.4133	3.5103	0.07705	0.6251:0.0:0.2073:0.1677	rs60523386;rs61744383	47;47	A1A4Y0;O75715	.;GPX5_HUMAN	T	47	ENSP00000392398:A47T;ENSP00000419935:A47T	ENSP00000392398:A47T	A	+	1	0	GPX5	28605258	0.018000	0.18449	0.000000	0.03702	0.000000	0.00434	1.347000	0.33975	-0.060000	0.13132	-1.105000	0.02106	GCA		0.428	GPX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043672.2		
CARD11	84433	broad.mit.edu	37	7	2983971	2983971	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr7:2983971G>A	ENST00000396946.4	-	5	962	c.559C>T	c.(559-561)Cgg>Tgg	p.R187W	AC004906.3_ENST00000423194.1_RNA	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	187					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TAGCTGTCCCGCTCTTCCTTC	0.557			Mis		DLBCL																																	uc003smv.3				Dom	yes		7	7p22	84433	Mis	"""caspase recruitment domain family, member 11"""			L			DLBCL		0				NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150						c.(559-561)Cgg>Tgg		Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.							248.0	154.0	186.0					7																	2983971		2203	4300	6503	SO:0001583	missense	84433				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	g.chr7:2983971G>A	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.559C>T	7.37:g.2983971G>A	ENSP00000380150:p.Arg187Trp						p.R187W	NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	4	893	-		Ovarian(82;0.0115)	187					A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	ENST00000396946.4	37	c.559C>T	CCDS5336.2	.	.	.	.	.	.	.	.	.	.	G	15.02	2.710363	0.48517	.	.	ENSG00000198286	ENST00000396946	T	0.36157	1.27	4.46	2.25	0.28309	.	0.000000	0.85682	D	0.000000	T	0.19765	0.0475	N	0.20881	0.62	0.52099	D	0.999945	B	0.27971	0.196	B	0.17722	0.019	T	0.05632	-1.0873	10	0.37606	T	0.19	-27.5118	7.2254	0.26012	0.0992:0.0:0.6097:0.2911	.	187	Q9BXL7	CAR11_HUMAN	W	187	ENSP00000380150:R187W	ENSP00000380150:R187W	R	-	1	2	CARD11	2950497	1.000000	0.71417	0.994000	0.49952	0.976000	0.68499	2.135000	0.42112	1.000000	0.39049	0.561000	0.74099	CGG		0.557	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415	
HERPUD2	64224	broad.mit.edu	37	7	35712865	35712865	+	Silent	SNP	C	C	T			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr7:35712865C>T	ENST00000396081.1	-	2	975	c.171G>A	c.(169-171)gtG>gtA	p.V57V	HERPUD2_ENST00000311350.3_Silent_p.V57V	NM_022373.4	NP_071768.3	Q9BSE4	HERP2_HUMAN	HERPUD family member 2	57	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				response to unfolded protein (GO:0006986)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)				kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						TGCCCGAATACACCAATCTCT	0.373																																						uc003tes.4																			0				kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						c.(169-171)gtG>gtA		Homo sapiens HERPUD family member 2 (HERPUD2), mRNA.							113.0	109.0	110.0					7																	35712865		2203	4300	6503	SO:0001819	synonymous_variant	64224				response to unfolded protein	integral to membrane		g.chr7:35712865C>T	BC020264	CCDS5446.1	7p14.2	2006-03-20	2006-03-20		ENSG00000122557	ENSG00000122557			21915	protein-coding gene	gene with protein product	"""homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 2"""						Standard	NM_022373		Approved	FLJ22313	uc003tes.4	Q9BSE4	OTTHUMG00000128687	ENST00000396081.1:c.171G>A	7.37:g.35712865C>T						HERPUD2_uc003tet.3_Silent_p.V57V	p.V57V	NM_022373	NP_071768	Q9BSE4	HERP2_HUMAN			2	830	-			57			Ubiquitin-like.		A4D1Y8|Q9H6F9	Silent	SNP	ENST00000396081.1	37	c.171G>A	CCDS5446.1																																																																																				0.373	HERPUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250584.1	NM_022373	
OGDH	4967	broad.mit.edu	37	7	44684936	44684936	+	Frame_Shift_Del	DEL	T	T	-			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr7:44684936delT	ENST00000222673.5	+	3	275	c.233delT	c.(232-234)attfs	p.I78fs	OGDH_ENST00000444676.1_Frame_Shift_Del_p.I78fs|OGDH_ENST00000443864.2_Frame_Shift_Del_p.I78fs|OGDH_ENST00000447398.1_Frame_Shift_Del_p.I78fs|OGDH_ENST00000543843.1_Frame_Shift_Del_p.I18fs|OGDH_ENST00000449767.1_Frame_Shift_Del_p.I78fs|OGDH_ENST00000439616.2_Intron	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	78					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)	p.R81fs*19(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	TCATGGGACATTTTTTTTCGC	0.577																																						uc003tln.3																			1	Deletion - Frameshift(1)	p.R81fs*19(1)	breast(1)	breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36						c.(232-234)attfs		Homo sapiens oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) (OGDH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	NADH(DB00157)						127.0	121.0	123.0					7																	44684936		2203	4300	6503	SO:0001589	frameshift_variant	4967				glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr7:44684936delT	D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.233delT	7.37:g.44684936delT	ENSP00000222673:p.Ile78fs					OGDH_uc003tlm.3_Frame_Shift_Del_p.I78fs|OGDH_uc011kbx.2_Frame_Shift_Del_p.I78fs|OGDH_uc011kby.2_Intron|OGDH_uc003tlp.3_Frame_Shift_Del_p.I78fs|OGDH_uc011kbz.2_5'UTR|OGDH_uc003tlo.1_5'UTR	p.I78fs	NM_002541	NP_002532	Q02218	ODO1_HUMAN			2	392	+			78					B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Frame_Shift_Del	DEL	ENST00000222673.5	37	c.233delT	CCDS34627.1																																																																																				0.577	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1		
STRIP2	57464	broad.mit.edu	37	7	129104580	129104580	+	Splice_Site	SNP	G	G	A			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr7:129104580G>A	ENST00000249344.2	+	16	1816		c.e16+1		STRIP2_ENST00000435494.2_Splice_Site	NM_020704.2	NP_065755.1	Q9ULQ0	STRP2_HUMAN	striatin interacting protein 2						cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)											TATCTACCAGGTGAGCAGCTA	0.468																																						uc011koy.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.e16+1		Homo sapiens family with sequence similarity 40, member B (FAM40B), transcript variant 1, mRNA.							123.0	119.0	120.0					7																	129104580		2203	4300	6503	SO:0001630	splice_region_variant	57464							g.chr7:129104580G>A	AB032996	CCDS34752.1, CCDS47709.1	7q32.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000128578	ENSG00000128578			22209	protein-coding gene	gene with protein product	"""FAR11 factor arrest 11 homolog B (yeast)"""		"""family with sequence similarity 40, member B"""	FAM40B		22782902, 22298706, 18782753	Standard	NM_020704		Approved	KIAA1170, FAR11B	uc011koy.2	Q9ULQ0	OTTHUMG00000157695	ENST00000249344.2:c.1776+1G>A	7.37:g.129104580G>A						FAM40B_uc003vow.3_Splice_Site_p.Q592_splice|FAM40B_uc011koz.2_Splice_Site_p.Q84_splice	p.Q592_splice	NM_020704	NP_065755	Q9ULQ0	FA40B_HUMAN			16	1816	+			592					Q8WUZ4	Splice_Site	SNP	ENST00000249344.2	37	c.1776_splice	CCDS34752.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.083909	0.76642	.	.	ENSG00000128578	ENST00000249344;ENST00000435494	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0999	0.89503	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FAM40B	128891816	1.000000	0.71417	1.000000	0.80357	0.672000	0.39443	9.869000	0.99810	2.615000	0.88500	0.650000	0.86243	.		0.468	STRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349418.1	NM_001134336	Intron
CREB3L2	64764	broad.mit.edu	37	7	137686380	137686380	+	Silent	SNP	G	G	A			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr7:137686380G>A	ENST00000330387.6	-	1	423	c.72C>T	c.(70-72)ccC>ccT	p.P24P	CREB3L2_ENST00000452463.1_Silent_p.P24P|CREB3L2_ENST00000468127.1_5'UTR|CREB3L2_ENST00000456390.1_Silent_p.P24P	NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like 2	24					cartilage development (GO:0051216)|chondrocyte differentiation (GO:0002062)|ER to Golgi vesicle-mediated transport (GO:0006888)|positive regulation of transcription, DNA-templated (GO:0045893)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	cAMP response element binding (GO:0035497)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)		FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						CGCCGTCCCCGGGCTCTGACA	0.706			T	FUS	fibromyxoid sarcoma																																	uc003vtw.3				Dom	yes		7	7q34	64764	T	cAMP responsive element binding protein 3-like 2			M	FUS		fibromyxoid sarcoma	FUS/CREB3L2(158)	0				breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						c.(70-72)ccC>ccT		Homo sapiens cAMP responsive element binding protein 3-like 2 (CREB3L2), transcript variant 1, mRNA.							33.0	34.0	34.0					7																	137686380		2203	4299	6502	SO:0001819	synonymous_variant	64764				chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:137686380G>A	AJ549092	CCDS34760.1, CCDS59083.1	7q34	2013-01-10			ENSG00000182158	ENSG00000182158		"""basic leucine zipper proteins"""	23720	protein-coding gene	gene with protein product		608834					Standard	NM_194071		Approved	BBF2H7, TCAG_1951439	uc003vtw.3	Q70SY1	OTTHUMG00000155744	ENST00000330387.6:c.72C>T	7.37:g.137686380G>A						CREB3L2_uc003vtx.2_Silent_p.P24P|CREB3L2_uc003vty.4_Silent_p.P24P|AKR1D1_uc011kqd.1_5'Flank|AKR1D1_uc011kqb.1_5'Flank|AKR1D1_uc011kqc.1_5'Flank	p.P24P	NM_194071	NP_919047	Q70SY1	CR3L2_HUMAN			0	468	-			24					Q6P454|Q6ZMR6	Silent	SNP	ENST00000330387.6	37	c.72C>T	CCDS34760.1																																																																																				0.706	CREB3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341462.1	NM_194071	
PRSS3P2	154754	broad.mit.edu	37	7	142479940	142479940	+	RNA	SNP	C	C	T	rs58649169	byFrequency	TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr7:142479940C>T	ENST00000603901.1	+	0	72					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										ATGACAAGATCGTTGGGGGCT	0.557													c|||	4427	0.883986	0.7814	0.9452	5008	,	,		10861	0.8641		0.9642	False		,,,				2504	0.9172					uc011ksq.2																			0											c.(70-72)atC>atT		Homo sapiens protease, serine, 3 pseudogene (TRY6), non-coding RNA.							103.0	70.0	80.0					7																	142479940		692	1590	2282			154754							g.chr7:142479940C>T			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142479940C>T						TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|BV6S4-BJ2S2_uc003wan.1_Intron|PRSS3P2_uc011ksr.1_Non-coding_Transcript	p.I24I							1	155	+									Silent	SNP	ENST00000603901.1	37	c.72C>T																																																																																					0.557	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296	
TAS2R60	338398	broad.mit.edu	37	7	143140562	143140562	+	Missense_Mutation	SNP	T	T	C			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr7:143140562T>C	ENST00000332690.1	+	1	17	c.17T>C	c.(16-18)aTg>aCg	p.M6T	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	6					sensory perception of bitter taste (GO:0050913)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					GGAGACCACATGGTTCTAGGA	0.468																																						uc011ktg.2																			0				breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31						c.(16-18)aTg>aCg		Homo sapiens taste receptor, type 2, member 60 (TAS2R60), mRNA.							182.0	172.0	176.0					7																	143140562		2203	4300	6503	SO:0001583	missense	338398				sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity	g.chr7:143140562T>C	AY114094	CCDS5885.1	7q35	2014-07-10			ENSG00000185899	ENSG00000185899		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	20639	protein-coding gene	gene with protein product		613968				12584440	Standard	NM_177437		Approved	T2R60	uc011ktg.2	P59551	OTTHUMG00000154891	ENST00000332690.1:c.17T>C	7.37:g.143140562T>C	ENSP00000327724:p.Met6Thr					LOC285965_uc003wda.3_Intron	p.M6T	NM_177437	NP_803186	P59551	T2R60_HUMAN			0	17	+	Melanoma(164;0.172)		6					A4D2G8|Q645W8|Q7RTR7	Missense_Mutation	SNP	ENST00000332690.1	37	c.17T>C	CCDS5885.1	.	.	.	.	.	.	.	.	.	.	T	3.364	-0.129801	0.06753	.	.	ENSG00000185899	ENST00000332690	T	0.36520	1.25	5.53	-4.85	0.03142	.	1.306110	0.05758	N	0.604461	T	0.14270	0.0345	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.18429	-1.0337	10	0.19590	T	0.45	.	3.3311	0.07084	0.1371:0.4565:0.1403:0.2662	.	6	P59551	T2R60_HUMAN	T	6	ENSP00000327724:M6T	ENSP00000327724:M6T	M	+	2	0	TAS2R60	142850684	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.762000	0.04745	-0.595000	0.05828	-0.256000	0.11100	ATG		0.468	TAS2R60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337541.1		
SSPO	23145	broad.mit.edu	37	7	149509076	149509076	+	RNA	SNP	C	C	T	rs139588484	byFrequency	TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr7:149509076C>T	ENST00000378016.2	+	0	9622							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCATCGGCACCGGTTCTGTGC	0.687													C|||	3	0.000599042	0.0	0.0014	5008	,	,		14959	0.0		0.002	False		,,,				2504	0.0					uc010lpk.3																			0											c.(9613-9615)Cgg>Tgg		Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.							29.0	33.0	32.0					7																	149509076		1996	4157	6153			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149509076C>T	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149509076C>T							p.R3205W	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		67	9613	+	Melanoma(164;0.165)|Ovarian(565;0.177)		3208			TSP type-1 11.		Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37	c.9613C>T																																																																																					0.687	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript			
DOCK5	80005	broad.mit.edu	37	8	25181427	25181427	+	Missense_Mutation	SNP	C	C	A			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr8:25181427C>A	ENST00000276440.7	+	17	1723	c.1679C>A	c.(1678-1680)aCc>aAc	p.T560N		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	560	DHR-1.				positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		CCGGATGGCACCACTCTGCAG	0.488																																					Pancreas(145;34 1887 3271 10937 30165)	uc003xeg.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(1678-1680)aCc>aAc		Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.							92.0	77.0	82.0					8																	25181427		2203	4300	6503	SO:0001583	missense	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25181427C>A		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.1679C>A	8.37:g.25181427C>A	ENSP00000276440:p.Thr560Asn					DOCK5_uc010luf.1_Non-coding_Transcript|DOCK5_uc003xeh.1_Missense_Mutation_p.T274N|DOCK5_uc003xei.3_Missense_Mutation_p.T130N|DOCK5_uc003xej.3_5'Flank	p.T560N	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	16	1816	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	560			DHR-1.		B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	ENST00000276440.7	37	c.1679C>A	CCDS6047.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.145113|5.145113	0.94603|0.94603	.|.	.|.	ENSG00000147459|ENSG00000147459	ENST00000444569|ENST00000276440	.|T	.|0.15256	.|2.44	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.54159|0.54159	0.1841|0.1841	M|M	0.92459|0.92459	3.31|3.31	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.76494	.|0.999;0.986;0.999	.|D;D;D	.|0.75020	.|0.985;0.98;0.985	T|T	0.64433|0.64433	-0.6409|-0.6409	5|10	.|0.72032	.|D	.|0.01	.|.	19.8379|19.8379	0.96666|0.96666	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|550;335;560	.|D3DSS6;Q68DL4;Q9H7D0	.|.;.;DOCK5_HUMAN	Q|N	331|560	.|ENSP00000276440:T560N	.|ENSP00000276440:T560N	H|T	+|+	3|2	2|0	DOCK5|DOCK5	25237344|25237344	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	7.776000|7.776000	0.85560|0.85560	2.765000|2.765000	0.95021|0.95021	0.655000|0.655000	0.94253|0.94253	CAC|ACC		0.488	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940	
TEX15	56154	broad.mit.edu	37	8	30700338	30700338	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr8:30700338C>T	ENST00000256246.2	-	1	6270	c.6196G>A	c.(6196-6198)Gtc>Atc	p.V2066I		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2066					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GAGACCATGACGATTTCAATA	0.338																																						uc003xil.3																			0				NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138						c.(6196-6198)Gtc>Atc		Homo sapiens testis expressed 15 (TEX15), mRNA.							43.0	44.0	44.0					8																	30700338		2203	4298	6501	SO:0001583	missense	56154							g.chr8:30700338C>T	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.6196G>A	8.37:g.30700338C>T	ENSP00000256246:p.Val2066Ile						p.V2066I	NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	0	6196	-			2066						Missense_Mutation	SNP	ENST00000256246.2	37	c.6196G>A	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	C	7.264	0.605693	0.14002	.	.	ENSG00000133863	ENST00000256246	T	0.13307	2.6	5.33	3.46	0.39613	.	0.550750	0.16208	N	0.224613	T	0.15912	0.0383	L	0.59436	1.845	0.09310	N	0.999997	P	0.50066	0.931	B	0.42062	0.374	T	0.08452	-1.0721	10	0.87932	D	0	.	10.1728	0.42920	0.1437:0.5782:0.2781:0.0	.	2066	Q9BXT5	TEX15_HUMAN	I	2066	ENSP00000256246:V2066I	ENSP00000256246:V2066I	V	-	1	0	TEX15	30819880	0.002000	0.14202	0.503000	0.27626	0.455000	0.32408	0.087000	0.14958	0.685000	0.31468	0.585000	0.79938	GTC		0.338	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1		
PCMTD1	115294	broad.mit.edu	37	8	52733200	52733200	+	Missense_Mutation	SNP	T	T	A			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr8:52733200T>A	ENST00000360540.5	-	7	1191	c.785A>T	c.(784-786)gAg>gTg	p.E262V	PCMTD1_ENST00000522514.1_Missense_Mutation_p.E262V|PCMTD1_ENST00000544451.1_Missense_Mutation_p.E186V|PCMTD1_ENST00000519559.1_5'UTR	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	262						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				GGCCTGCATCTCATCATTTAT	0.408																																						uc003xqx.4																			0		p.E262E(1)		NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37						c.(784-786)gAg>gTg		Homo sapiens protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 (PCMTD1), mRNA.							92.0	97.0	95.0					8																	52733200		2203	4298	6501	SO:0001583	missense	115294					cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	g.chr8:52733200T>A		CCDS6148.1, CCDS69480.1	8q11.23	2010-08-05			ENSG00000168300	ENSG00000168300			30483	protein-coding gene	gene with protein product							Standard	XM_005251146		Approved	FLJ10883	uc003xqx.4	Q96MG8	OTTHUMG00000164246	ENST00000360540.5:c.785A>T	8.37:g.52733200T>A	ENSP00000353739:p.Glu262Val					PCMTD1_uc011ldm.2_Missense_Mutation_p.E132V|PCMTD1_uc011ldn.2_Missense_Mutation_p.E74V|PCMTD1_uc010lya.3_Missense_Mutation_p.E186V	p.E262V	NM_052937	NP_443169	Q96MG8	PCMD1_HUMAN			5	1126	-		Lung NSC(129;0.0795)|all_lung(136;0.144)	262					Q96FK9	Missense_Mutation	SNP	ENST00000360540.5	37	c.785A>T	CCDS6148.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.313125	0.81358	.	.	ENSG00000168300	ENST00000360540;ENST00000544451;ENST00000522514	T;T;T	0.48522	0.81;0.81;0.81	5.77	5.77	0.91146	.	0.156649	0.56097	D	0.000025	T	0.61677	0.2366	L	0.46614	1.455	0.80722	D	1	D;D;B	0.76494	0.966;0.999;0.047	P;D;B	0.68943	0.543;0.961;0.023	T	0.60586	-0.7234	10	0.44086	T	0.13	-22.3297	16.0858	0.81049	0.0:0.0:0.0:1.0	.	132;186;262	B4E2B4;F5H1M8;Q96MG8	.;.;PCMD1_HUMAN	V	262;186;262	ENSP00000353739:E262V;ENSP00000444026:E186V;ENSP00000428099:E262V	ENSP00000353739:E262V	E	-	2	0	PCMTD1	52895753	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.244000	0.78228	2.198000	0.70561	0.533000	0.62120	GAG		0.408	PCMTD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377909.2	NM_052937	
TCEA1	6917	broad.mit.edu	37	8	54897020	54897020	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr8:54897020C>T	ENST00000521604.2	-	7	984	c.581G>A	c.(580-582)aGg>aAg	p.R194K	TCEA1_ENST00000396401.3_Missense_Mutation_p.R173K|TCEA1_ENST00000522635.1_Intron|TCEA1_ENST00000521086.2_5'UTR	NM_006756.2	NP_006747.1	P23193	TCEA1_HUMAN	transcription elongation factor A (SII), 1	194	TFIIS central. {ECO:0000255|PROSITE- ProRule:PRU00651}.				DNA repair (GO:0006281)|erythrocyte differentiation (GO:0030218)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|regulation of DNA-templated transcription, elongation (GO:0032784)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;9.1e-07)|Epithelial(17;9.44e-05)|all cancers(17;0.000699)			ATTTGATATCCTACTTCGTAC	0.333			T	PLAG1	salivary adenoma																																	uc003xru.3				Dom	yes		8	8q11.2	6917	T	"""transcription elongation factor A (SII), 1"""			E	PLAG1		salivary adenoma		0				breast(1)|large_intestine(1)|lung(1)|skin(1)	4						c.(580-582)aGg>aAg		Homo sapiens transcription elongation factor A (SII), 1 (TCEA1), transcript variant 1, mRNA.							79.0	66.0	70.0					8																	54897020		1801	4059	5860	SO:0001583	missense	6917				positive regulation of viral transcription|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	nucleoplasm	DNA binding|translation elongation factor activity|zinc ion binding	g.chr8:54897020C>T	X62585	CCDS47857.1, CCDS47858.1	8q11.2	2011-01-25			ENSG00000187735	ENSG00000187735		"""General transcription factors"""	11612	protein-coding gene	gene with protein product		601425		TCEA, GTF2S		8812434, 8112616	Standard	NM_006756		Approved	SII, TF2S, TFIIS	uc003xru.3	P23193	OTTHUMG00000164262	ENST00000521604.2:c.581G>A	8.37:g.54897020C>T	ENSP00000428426:p.Arg194Lys					TCEA1_uc003xrv.3_Missense_Mutation_p.R173K|TCEA1_uc011ldw.2_Intron|TCEA1_uc010lyg.3_Non-coding_Transcript	p.R194K	NM_006756	NP_006747	P23193	TCEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;9.1e-07)|Epithelial(17;9.44e-05)|all cancers(17;0.000699)		6	904	-		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)	194			TFIIS central.		A6NF25|A8K339|Q15563|Q6FG87	Missense_Mutation	SNP	ENST00000521604.2	37	c.581G>A	CCDS47858.1	.	.	.	.	.	.	.	.	.	.	C	35	5.470826	0.96274	.	.	ENSG00000187735	ENST00000396401;ENST00000521604	T;T	0.42131	0.98;0.98	5.15	5.15	0.70609	Transcription elongation factor S-IIM (1);Transcription elongation factor S-II, central domain (4);	0.000000	0.85682	D	0.000000	T	0.62998	0.2474	M	0.66378	2.025	0.80722	D	1	D;P	0.62365	0.991;0.95	D;P	0.63703	0.917;0.859	T	0.66360	-0.5943	10	0.87932	D	0	-26.8695	18.9917	0.92794	0.0:1.0:0.0:0.0	.	173;194	P23193-2;P23193	.;TCEA1_HUMAN	K	173;194	ENSP00000395483:R173K;ENSP00000428426:R194K	ENSP00000395483:R173K	R	-	2	0	TCEA1	55059573	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.776000	0.85560	2.572000	0.86782	0.491000	0.48974	AGG		0.333	TCEA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377975.2	NM_006756	
OPLAH	26873	broad.mit.edu	37	8	145108275	145108275	+	Missense_Mutation	SNP	G	G	A	rs560233274		TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr8:145108275G>A	ENST00000426825.1	-	20	2789	c.2708C>T	c.(2707-2709)gCg>gTg	p.A903V	OPLAH_ENST00000534424.1_5'UTR|CTD-3065J16.6_ENST00000528912.1_RNA|CTD-3065J16.6_ENST00000561181.1_RNA	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	903					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	5-oxoprolinase (ATP-hydrolyzing) activity (GO:0017168)|ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTTGCCTGGCGCCCGCAGGGC	0.642													G|||	1	0.000199681	0.0	0.0	5008	,	,		17628	0.0		0.001	False		,,,				2504	0.0					uc003zar.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20						c.(2707-2709)gCg>gTg		Homo sapiens 5-oxoprolinase (ATP-hydrolysing) (OPLAH), mRNA.	L-Glutamic Acid(DB00142)						47.0	56.0	53.0					8																	145108275		2091	4211	6302	SO:0001583	missense	26873						5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding	g.chr8:145108275G>A	AF024672, AB122018	CCDS75802.1	8q24.3	2010-11-23			ENSG00000178814	ENSG00000178814	3.5.2.9		8149	protein-coding gene	gene with protein product		614243				14993790	Standard	NM_017570		Approved	OPLA, 5-Opase	uc003zar.3	O14841		ENST00000426825.1:c.2708C>T	8.37:g.145108275G>A	ENSP00000475943:p.Ala903Val					OPLAH_uc003zas.1_Silent_p.G177G	p.A903V	NM_017570	NP_060040	O14841	OPLA_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		19	2790	-	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		903					A5PKY8|Q75W65|Q9Y4Q0	Missense_Mutation	SNP	ENST00000426825.1	37	c.2708C>T		.	.	.	.	.	.	.	.	.	.	G	13.35	2.210938	0.39102	.	.	ENSG00000178814	ENST00000426825	.	.	.	4.56	4.56	0.56223	.	0.000000	0.85682	D	0.000000	T	0.67627	0.2913	.	.	.	0.48762	D	0.999704	D	0.61697	0.99	P	0.54590	0.756	T	0.76937	-0.2774	7	0.54805	T	0.06	.	14.8067	0.69962	0.0:0.0:1.0:0.0	.	903	O14841	OPLA_HUMAN	V	903	.	ENSP00000412071:A903V	A	-	2	0	OPLAH	145180263	1.000000	0.71417	0.942000	0.38095	0.680000	0.39746	4.869000	0.63028	2.069000	0.61940	0.448000	0.29417	GCG		0.642	OPLAH-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017570	
TLE4	7091	broad.mit.edu	37	9	82333807	82333807	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr9:82333807C>T	ENST00000376552.2	+	15	2529	c.1511C>T	c.(1510-1512)aCg>aTg	p.T504M	TLE4_ENST00000376534.4_Missense_Mutation_p.T141M|TLE4_ENST00000265284.6_Missense_Mutation_p.T479M|TLE4_ENST00000376544.3_Missense_Mutation_p.T435M|TLE4_ENST00000376537.4_Missense_Mutation_p.T536M|TLE4_ENST00000376520.4_Missense_Mutation_p.T536M	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4	504					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CACGTGTACACGGGTGGGAAG	0.602																																						uc004ald.3																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						c.(1585-1587)aCg>aTg		Homo sapiens transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila) (TLE4), mRNA.							125.0	120.0	121.0					9																	82333807		2203	4300	6503	SO:0001583	missense	7091							g.chr9:82333807C>T	M99439	CCDS43837.1, CCDS65069.1, CCDS65070.1, CCDS75851.1	9q21.32	2014-03-07	2014-03-07		ENSG00000106829	ENSG00000106829		"""WD repeat domain containing"""	11840	protein-coding gene	gene with protein product		605132	"""transducin-like enhancer of split 4, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005252167		Approved	E(spI), ESG, GRG4	uc004alc.3	Q04727	OTTHUMG00000020072	ENST00000376552.2:c.1511C>T	9.37:g.82333807C>T	ENSP00000365735:p.Thr504Met					TLE4_uc004alc.3_Missense_Mutation_p.T504M|TLE4_uc010mpr.3_Missense_Mutation_p.T383M|TLE4_uc004ale.3_Missense_Mutation_p.T141M|TLE4_uc011lsq.2_Missense_Mutation_p.T472M|TLE4_uc010mps.3_Missense_Mutation_p.T428M|TLE4_uc004alf.3_Missense_Mutation_p.T443M	p.T529M	NM_007005	NP_008936	O60756	BCE1_HUMAN			15	2435	+			0					F8W6T6|Q3ZCS1|Q5T1Y2|Q6PCB3|Q9BZ07|Q9BZ08|Q9BZ09|Q9NSL3|Q9ULF9	Missense_Mutation	SNP	ENST00000376552.2	37	c.1586C>T	CCDS43837.1	.	.	.	.	.	.	.	.	.	.	C	33	5.225324	0.95173	.	.	ENSG00000106829	ENST00000376552;ENST00000376544;ENST00000376520;ENST00000376537;ENST00000376534;ENST00000265284	T;T;T;T;T;T	0.14022	2.54;2.54;2.54;2.54;2.54;2.54	6.07	6.07	0.98685	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.48352	0.1495	M	0.88842	2.985	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.996;0.999;1.0	T	0.52026	-0.8630	10	0.87932	D	0	-14.2292	20.6439	0.99570	0.0:1.0:0.0:0.0	.	479;435;536;504	F8W6T6;Q04727-2;Q04727-3;Q04727	.;.;.;TLE4_HUMAN	M	504;435;536;536;141;479	ENSP00000365735:T504M;ENSP00000365727:T435M;ENSP00000365703:T536M;ENSP00000365720:T536M;ENSP00000365717:T141M;ENSP00000265284:T479M	ENSP00000265284:T479M	T	+	2	0	TLE4	81523627	1.000000	0.71417	0.995000	0.50966	0.777000	0.43975	7.818000	0.86416	2.884000	0.98904	0.655000	0.94253	ACG		0.602	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052792.4	XM_212237	
CIZ1	25792	broad.mit.edu	37	9	130952718	130952718	+	Missense_Mutation	SNP	A	A	G			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr9:130952718A>G	ENST00000393608.1	-	3	378	c.176T>C	c.(175-177)cTc>cCc	p.L59P	CIZ1_ENST00000372938.5_Missense_Mutation_p.L59P|CIZ1_ENST00000476727.2_Intron|CIZ1_ENST00000325721.8_Missense_Mutation_p.L59P|CIZ1_ENST00000541172.1_Intron|CIZ1_ENST00000372948.3_Missense_Mutation_p.L59P|CIZ1_ENST00000538431.1_Missense_Mutation_p.L59P|CIZ1_ENST00000357558.5_Missense_Mutation_p.L59P|CIZ1_ENST00000277465.4_Missense_Mutation_p.L59P|CIZ1_ENST00000372954.1_Missense_Mutation_p.L59P	NM_012127.2	NP_036259.2	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	59					maintenance of protein location in nucleus (GO:0051457)|positive regulation of DNA-dependent DNA replication initiation (GO:0032298)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						CTGCGGGGGGAGCCCCCTGTG	0.582																																						uc011mas.2																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						c.(265-267)cTc>cCc		Homo sapiens CDKN1A interacting zinc finger protein 1 (CIZ1), transcript variant 1, mRNA.							25.0	24.0	25.0					9																	130952718		2203	4300	6503	SO:0001583	missense	25792					nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr9:130952718A>G	AB030835	CCDS6894.1, CCDS48033.1, CCDS48034.1, CCDS75910.1	9q34.1	2012-10-05			ENSG00000148337	ENSG00000148337			16744	protein-coding gene	gene with protein product		611420				10529385	Standard	NM_001131015		Approved	LSFR1, ZNF356	uc011mas.2	Q9ULV3	OTTHUMG00000020735	ENST00000393608.1:c.176T>C	9.37:g.130952718A>G	ENSP00000377232:p.Leu59Pro					CIZ1_uc004btr.3_Missense_Mutation_p.L59P|CIZ1_uc004bts.3_Missense_Mutation_p.L59P|CIZ1_uc011maq.2_Missense_Mutation_p.L59P|CIZ1_uc004btu.3_Missense_Mutation_p.L59P|CIZ1_uc004btt.3_Missense_Mutation_p.L59P|CIZ1_uc011mar.2_Intron|CIZ1_uc004btw.3_Missense_Mutation_p.L59P|CIZ1_uc004btv.3_Missense_Mutation_p.L59P|CIZ1_uc004btx.2_Missense_Mutation_p.L59P	p.L89P	NM_012127	NP_036259	Q9ULV3	CIZ1_HUMAN			2	431	-			59					A8K9J8|B4E131|B7ZAS8|Q5SYW3|Q5SYW5|Q8WU72|Q9H868|Q9NYM8|Q9UHK4|Q9Y3F9|Q9Y3G0	Missense_Mutation	SNP	ENST00000393608.1	37	c.266T>C	CCDS6894.1	.	.	.	.	.	.	.	.	.	.	A	13.65	2.300687	0.40694	.	.	ENSG00000148337	ENST00000372954;ENST00000393608;ENST00000538431;ENST00000357558;ENST00000325721;ENST00000537314;ENST00000277465;ENST00000372941;ENST00000372948;ENST00000372938;ENST00000415526;ENST00000324544;ENST00000420484	T;T;T;T;T;T;T;T;T;T;T	0.80214	-1.35;-1.35;-1.35;-1.35;-1.35;-1.35;-1.35;-1.35;-1.35;-1.35;-1.35	4.31	4.31	0.51392	.	0.401761	0.18500	N	0.139371	D	0.82893	0.5136	L	0.29908	0.895	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	0.995;1.0;1.0;1.0;1.0;0.999;0.997;1.0	D;D;D;D;D;D;D;D	0.91635	0.986;0.999;0.976;0.999;0.999;0.998;0.943;0.999	D	0.83844	0.0259	10	0.87932	D	0	-23.1311	10.9807	0.47492	1.0:0.0:0.0:0.0	.	59;59;59;59;59;59;59;59	B7Z3U7;B4E0A3;F5H2X7;Q9ULV3-4;Q9ULV3-3;Q9ULV3;Q9ULV3-2;Q5SYW2	.;.;.;.;.;CIZ1_HUMAN;.;.	P	59;59;59;59;59;26;59;59;59;59;10;59;59	ENSP00000362045:L59P;ENSP00000377232:L59P;ENSP00000439244:L59P;ENSP00000350169:L59P;ENSP00000320374:L59P;ENSP00000277465:L59P;ENSP00000362039:L59P;ENSP00000362029:L59P;ENSP00000398011:L10P;ENSP00000321780:L59P;ENSP00000407265:L59P	ENSP00000277465:L59P	L	-	2	0	CIZ1	129992539	1.000000	0.71417	0.992000	0.48379	0.052000	0.14988	4.437000	0.59955	1.823000	0.53134	0.533000	0.62120	CTC		0.582	CIZ1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054399.1	NM_012127	
ABL1	25	broad.mit.edu	37	9	133750310	133750310	+	Missense_Mutation	SNP	G	G	T			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr9:133750310G>T	ENST00000318560.5	+	7	1522	c.1141G>T	c.(1141-1143)Gat>Tat	p.D381Y		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	381	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)	p.?(1)		breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	GAAGGTAGCTGATTTTGGCCT	0.537			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""																																	uc004bzw.3				Dom	yes		9	9q34.1	25	"""T, Mis"""	v-abl Abelson murine leukemia viral oncogene homolog 1			L	"""BCR, ETV6, NUP214"""		"""CML, ALL, T-ALL"""		1	Unknown(1)	p.?(1)	haematopoietic_and_lymphoid_tissue(1)	breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195						c.(1141-1143)Gat>Tat		Homo sapiens c-abl oncogene 1, non-receptor tyrosine kinase (ABL1), transcript variant a, mRNA.	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)						167.0	145.0	153.0					9																	133750310		2203	4300	6503	SO:0001583	missense	25				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	g.chr9:133750310G>T	M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"""SH2 domain containing"""	76	protein-coding gene	gene with protein product		189980	"""v-abl Abelson murine leukemia viral oncogene homolog 1"", ""c-abl oncogene 1, receptor tyrosine kinase"", ""c-abl oncogene 1, non-receptor tyrosine kinase"""	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.1141G>T	9.37:g.133750310G>T	ENSP00000323315:p.Asp381Tyr					ABL1_uc004bzv.3_Missense_Mutation_p.D400Y	p.D381Y	NM_005157	NP_005148	P00519	ABL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	6	1144	+		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)	381			Protein kinase.		A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Missense_Mutation	SNP	ENST00000318560.5	37	c.1141G>T	CCDS35166.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.902055	0.92035	.	.	ENSG00000097007	ENST00000444970;ENST00000372348;ENST00000318560	D;D	0.88354	-2.37;-2.37	5.23	5.23	0.72850	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.97498	0.9181	H	0.99859	4.855	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99727	1.1011	10	0.87932	D	0	.	17.802	0.88590	0.0:0.0:1.0:0.0	.	381;418	P00519;Q59FK4	ABL1_HUMAN;.	Y	196;400;381	ENSP00000361423:D400Y;ENSP00000323315:D381Y	ENSP00000323315:D381Y	D	+	1	0	ABL1	132740131	1.000000	0.71417	0.995000	0.50966	0.972000	0.66771	9.858000	0.99539	2.450000	0.82876	0.655000	0.94253	GAT		0.537	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1	NM_007313	
LHX3	8022	broad.mit.edu	37	9	139091685	139091685	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr9:139091685G>A	ENST00000371748.5	-	3	389	c.293C>T	c.(292-294)cCg>cTg	p.P98L	LHX3_ENST00000371746.3_Missense_Mutation_p.P103L	NM_178138.4	NP_835258.1	Q9UBR4	LHX3_HUMAN	LIM homeobox 3	98	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				inner ear development (GO:0048839)|lung development (GO:0030324)|medial motor column neuron differentiation (GO:0021526)|motor neuron axon guidance (GO:0008045)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|pituitary gland development (GO:0021983)|placenta development (GO:0001890)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spinal cord association neuron differentiation (GO:0021527)|spinal cord motor neuron cell fate specification (GO:0021520)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		CTGCGTGGGCGGGATGCCCAG	0.716																																						uc004cgz.3																			0		p.I102V(1)		large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8						c.(307-309)cCg>cTg		Homo sapiens LIM homeobox 3 (LHX3), transcript variant 2, mRNA.							15.0	13.0	13.0					9																	139091685		2194	4288	6482	SO:0001583	missense	8022				inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:139091685G>A	AF096169	CCDS6994.1, CCDS6995.1	9q34.3	2011-06-20			ENSG00000107187	ENSG00000107187		"""Homeoboxes / LIM class"""	6595	protein-coding gene	gene with protein product		600577				10598593, 10717474	Standard	NM_178138		Approved		uc004cgz.3	Q9UBR4	OTTHUMG00000020924	ENST00000371748.5:c.293C>T	9.37:g.139091685G>A	ENSP00000360813:p.Pro98Leu					LHX3_uc022bpm.1_Silent_p.P119P|LHX3_uc004cha.3_Missense_Mutation_p.P98L	p.P103L	NM_014564	NP_055379	Q9UBR4	LHX3_HUMAN		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)	2	427	-		Myeloproliferative disorder(178;0.0511)	98			LIM zinc-binding 2.		Q5TB39|Q5TB40|Q9NZB5|Q9P0I8|Q9P0I9	Missense_Mutation	SNP	ENST00000371748.5	37	c.308C>T	CCDS6994.1	.	.	.	.	.	.	.	.	.	.	G	32	5.108438	0.94292	.	.	ENSG00000107187	ENST00000371748;ENST00000371746;ENST00000325195	D;D	0.86694	-2.16;-2.16	4.19	4.19	0.49359	Zinc finger, LIM-type (5);	0.000000	0.85682	D	0.000000	D	0.87951	0.6307	N	0.20574	0.59	0.80722	D	1	D;P	0.89917	1.0;0.757	D;B	0.83275	0.996;0.255	D	0.87876	0.2674	10	0.37606	T	0.19	.	15.6812	0.77371	0.0:0.0:1.0:0.0	.	98;103	Q9UBR4;F1T0D9	LHX3_HUMAN;.	L	98;103;101	ENSP00000360813:P98L;ENSP00000360811:P103L	ENSP00000319224:P101L	P	-	2	0	LHX3	138231506	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.216000	0.95154	2.172000	0.68678	0.561000	0.74099	CCG		0.716	LHX3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055048.3		
P2RY8	286530	broad.mit.edu	37	X	1584486	1584486	+	Silent	SNP	G	G	A			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chrX:1584486G>A	ENST00000381297.4	-	2	1176	c.966C>T	c.(964-966)cgC>cgT	p.R322R	P2RY8_ENST00000460672.1_5'Flank	NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	322						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AGAGGCTCTCGCGGCGCGTGT	0.672			T	CRLF2	"""B-ALL, Downs associated ALL"""																																	uc022brv.1				Dom	yes		"""X,Y"""	Xp22.3; Yp11.3	286530	T	"""purinergic receptor P2Y, G-protein coupled, 8"""			L	CRLF2		"""B-ALL, Downs associated ALL"""		0				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23						c.(964-966)cgC>cgT		Homo sapiens purinergic receptor P2Y, G-protein coupled, 8 (P2RY8), mRNA.							48.0	56.0	53.0					X																	1584486		2203	4295	6498	SO:0001819	synonymous_variant	286530					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:1584486G>A	AA804531	CCDS14115.1	Xp22.33 and Yp11.3	2012-08-08			ENSG00000182162	ENSG00000182162		"""Pseudoautosomal regions / PAR1"", ""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	15524	protein-coding gene	gene with protein product		300525				11004484	Standard	NM_178129		Approved	P2Y8	uc004cpz.2	Q86VZ1	OTTHUMG00000021060	ENST00000381297.4:c.966C>T	X.37:g.1584486G>A						CRLF2_uc022brt.1_Intron|P2RY8_uc004cpz.2_Silent_p.R322R	p.R322R	NM_178129	NP_835230	Q86VZ1	P2RY8_HUMAN			0	966	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	322						Silent	SNP	ENST00000381297.4	37	c.966C>T	CCDS14115.1																																																																																				0.672	P2RY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055602.1	NM_178129	
FAM47A	158724	broad.mit.edu	37	X	34149408	34149408	+	Missense_Mutation	SNP	G	G	T			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chrX:34149408G>T	ENST00000346193.3	-	1	1039	c.988C>A	c.(988-990)Ccg>Acg	p.P330T		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	330										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						CCAGTCTCCGGAGGCTCCGGG	0.637																																						uc004ddg.3																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						c.(988-990)Ccg>Acg		Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.							18.0	21.0	20.0					X																	34149408		2181	4283	6464	SO:0001583	missense	158724							g.chrX:34149408G>T	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.988C>A	X.37:g.34149408G>T	ENSP00000345029:p.Pro330Thr						p.P330T	NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN			0	1040	-			330					A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	c.988C>A	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	g	10.61	1.397730	0.25205	.	.	ENSG00000185448	ENST00000346193	T	0.22539	1.95	0.226	0.226	0.15353	.	.	.	.	.	T	0.38878	0.1057	M	0.67397	2.05	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.11817	-1.0572	8	0.52906	T	0.07	.	.	.	.	.	330	Q5JRC9	FA47A_HUMAN	T	330	ENSP00000345029:P330T	ENSP00000345029:P330T	P	-	1	0	FAM47A	34059329	0.400000	0.25295	0.007000	0.13788	0.007000	0.05969	-0.099000	0.11007	0.283000	0.22279	0.287000	0.19450	CCG		0.637	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408	
L1CAM	3897	broad.mit.edu	37	X	153130626	153130626	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chrX:153130626G>A	ENST00000370060.1	-	22	2978	c.2789C>T	c.(2788-2790)tCg>tTg	p.S930L	L1CAM_ENST00000370057.3_Missense_Mutation_p.S930L|L1CAM_ENST00000543994.1_Missense_Mutation_p.S932L|L1CAM_ENST00000361699.4_Missense_Mutation_p.S930L|L1CAM_ENST00000538883.1_Missense_Mutation_p.S932L|L1CAM_ENST00000361981.3_Missense_Mutation_p.S925L|L1CAM_ENST00000370055.1_Missense_Mutation_p.S925L	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	930	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCTGGTGTTCGACTGGCACTC	0.701																																						uc004fjb.3																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(2788-2790)tCg>tTg		Homo sapiens L1 cell adhesion molecule (L1CAM), transcript variant 1, mRNA.							27.0	25.0	26.0					X																	153130626		2197	4289	6486	SO:0001583	missense	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153130626G>A	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.2789C>T	X.37:g.153130626G>A	ENSP00000359077:p.Ser930Leu					L1CAM_uc004fjc.3_Missense_Mutation_p.S930L|L1CAM_uc010nuo.3_Missense_Mutation_p.S925L	p.S930L	NM_000425	NP_000416	P32004	L1CAM_HUMAN			20	2897	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		930			Fibronectin type-III 4.		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	ENST00000370060.1	37	c.2789C>T	CCDS14733.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.780740	0.90195	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699	T;T;T;T;T;T;T	0.59502	0.26;0.26;0.26;0.26;0.26;0.26;0.26	5.17	5.17	0.71159	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.50627	D	0.000114	T	0.73760	0.3628	M	0.76170	2.325	0.80722	D	1	D;D;D	0.89917	0.999;0.996;1.0	D;P;D	0.70487	0.948;0.73;0.969	T	0.73043	-0.4107	10	0.32370	T	0.25	.	15.0765	0.72080	0.0:0.0:1.0:0.0	.	925;930;930	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	L	930;932;930;932;925;925;930	ENSP00000359077:S930L;ENSP00000438430:S932L;ENSP00000359074:S930L;ENSP00000439645:S932L;ENSP00000354712:S925L;ENSP00000359072:S925L;ENSP00000355380:S930L	ENSP00000355380:S930L	S	-	2	0	L1CAM	152783820	1.000000	0.71417	0.913000	0.36048	0.978000	0.69477	5.889000	0.69766	2.147000	0.66899	0.529000	0.55759	TCG		0.701	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003	
