#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_BAM_File	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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	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_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
ABL1	25	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	133760875	133760875	+	Silent	SNP	C	C	T			TCGA-BP-4998-01A-01D-1462-08	TCGA-BP-4998-11A-01D-1462-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	e646f930-967b-43a3-bd70-184e5c38efe5	10e99e0b-b3d0-4fbe-ab04-a579616e45a9	g.chr9:133760875C>T	ENST00000318560.5	+	11	3579	c.3198C>T	c.(3196-3198)ttC>ttT	p.F1066F		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	1066	F-actin-binding.				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.F1066F(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)	TCTACACGTTCTGCGTGAGCT	0.552			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""																																			Dom	yes		9	9q34.1	25	v-abl Abelson murine leukemia viral oncogene homolog 1		L	1	Substitution - coding silent(1)	kidney(1)											80.0	82.0	82.0					9																	133760875		2203	4300	6503	SO:0001819	synonymous_variant	25			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.3198C>T	9.37:g.133760875C>T			A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Silent	SNP	ENST00000318560.5	37	CCDS35166.1																																																																																				0.552	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1		NM_007313	
ALAS1	211	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52236547	52236547	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4998-01A-01D-1462-08	TCGA-BP-4998-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e646f930-967b-43a3-bd70-184e5c38efe5	10e99e0b-b3d0-4fbe-ab04-a579616e45a9	g.chr3:52236547T>C	ENST00000394965.2	+	4	584	c.224T>C	c.(223-225)gTc>gCc	p.V75A	ALAS1_ENST00000310271.2_Missense_Mutation_p.V75A|ALAS1_ENST00000469224.1_Missense_Mutation_p.V75A|ALAS1_ENST00000484952.1_Missense_Mutation_p.V75A	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN	aminolevulinate, delta-, synthase 1	75					cellular lipid metabolic process (GO:0044255)|heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	5-aminolevulinate synthase activity (GO:0003870)|pyridoxal phosphate binding (GO:0030170)	p.V75A(1)		endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)	AAGGCCAAGGTCCAACAGACT	0.493																																																	1	Substitution - Missense(1)	kidney(1)											70.0	72.0	71.0					3																	52236547		2203	4300	6503	SO:0001583	missense	211			X56351	CCDS2847.1	3p21	2004-11-18			ENSG00000023330	ENSG00000023330	2.3.1.37		396	protein-coding gene	gene with protein product		125290		ALAS3, ALAS			Standard	NM_000688		Approved		uc003dcz.2	P13196	OTTHUMG00000158108	ENST00000394965.2:c.224T>C	3.37:g.52236547T>C	ENSP00000378416:p.Val75Ala			Missense_Mutation	SNP	ENST00000394965.2	37	CCDS2847.1	.	.	.	.	.	.	.	.	.	.	T	8.607	0.888150	0.17540	.	.	ENSG00000023330	ENST00000469224;ENST00000394965;ENST00000441729;ENST00000310271;ENST00000484952	D;D;D;D	0.97480	-4.4;-4.4;-4.4;-4.4	5.09	-1.79	0.07932	.	0.861284	0.10187	N	0.705160	D	0.90397	0.6994	N	0.22421	0.69	0.23331	N	0.997896	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.80291	-0.1444	10	0.10377	T	0.69	-3.7532	5.2087	0.15304	0.0:0.3225:0.2739:0.4036	.	92;75	B4DVA0;P13196	.;HEM1_HUMAN	A	75	ENSP00000417719:V75A;ENSP00000378416:V75A;ENSP00000309259:V75A;ENSP00000418779:V75A	ENSP00000309259:V75A	V	+	2	0	ALAS1	52211587	0.388000	0.25197	0.050000	0.19076	0.987000	0.75469	0.129000	0.15830	-0.313000	0.08728	0.533000	0.62120	GTC		0.493	ALAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350207.1			
ANO9	338440	broad.mit.edu;ucsc.edu	37	11	430378	430378	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4998-01A-01D-1462-08	TCGA-BP-4998-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e646f930-967b-43a3-bd70-184e5c38efe5	10e99e0b-b3d0-4fbe-ab04-a579616e45a9	g.chr11:430378G>T	ENST00000332826.6	-	8	649	c.565C>A	c.(565-567)Ctg>Atg	p.L189M		NM_001012302.2	NP_001012302	A1A5B4	ANO9_HUMAN	anoctamin 9	189					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|negative regulation of intracellular calcium activated chloride channel activity (GO:1902939)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)	p.L189M(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						ACGAAGTACAGGGCCACCTTT	0.632																																																	1	Substitution - Missense(1)	kidney(1)											22.0	25.0	24.0					11																	430378		2192	4291	6483	SO:0001583	missense	338440			U33271	CCDS31326.1	11p15.5	2014-04-09	2008-08-28	2008-08-28	ENSG00000185101	ENSG00000185101		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	20679	protein-coding gene	gene with protein product			"""tumor protein p53 inducible protein 5"", ""transmembrane protein 16J"""	TP53I5, TMEM16J		9305847, 24692353	Standard	NM_001012302		Approved	PIG5	uc001lpi.2	A1A5B4	OTTHUMG00000165446	ENST00000332826.6:c.565C>A	11.37:g.430378G>T	ENSP00000332788:p.Leu189Met		B3KUC4|B4E134|Q8TEN4	Missense_Mutation	SNP	ENST00000332826.6	37	CCDS31326.1	.	.	.	.	.	.	.	.	.	.	G	14.25	2.480414	0.44044	.	.	ENSG00000185101	ENST00000332826	T	0.67171	-0.25	4.21	3.29	0.37713	.	0.105490	0.36854	N	0.002363	T	0.76300	0.3968	M	0.64404	1.975	0.34141	D	0.666381	D	0.76494	0.999	D	0.72338	0.977	T	0.81470	-0.0918	10	0.46703	T	0.11	.	11.7486	0.51835	0.1468:0.0:0.8532:0.0	.	189	A1A5B4	ANO9_HUMAN	M	189	ENSP00000332788:L189M	ENSP00000332788:L189M	L	-	1	2	ANO9	420378	0.921000	0.31238	0.975000	0.42487	0.452000	0.32318	1.395000	0.34520	2.379000	0.81126	0.479000	0.44913	CTG		0.632	ANO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384116.1		NM_001012302	
BRCA1	672	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	41197795	41197795	+	Missense_Mutation	SNP	G	G	A	rs80357582|rs587782778		TCGA-BP-4998-01A-01D-1462-08	TCGA-BP-4998-11A-01D-1462-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	e646f930-967b-43a3-bd70-184e5c38efe5	10e99e0b-b3d0-4fbe-ab04-a579616e45a9	g.chr17:41197795G>A	ENST00000357654.3	-	23	5610	c.5492C>T	c.(5491-5493)cCt>cTt	p.P1831L	BRCA1_ENST00000346315.3_Missense_Mutation_p.P1592L|BRCA1_ENST00000491747.2_Missense_Mutation_p.P727L|BRCA1_ENST00000591534.1_Missense_Mutation_p.P322L|BRCA1_ENST00000351666.3_Missense_Mutation_p.P648L|BRCA1_ENST00000352993.3_Missense_Mutation_p.P689L|BRCA1_ENST00000591849.1_Missense_Mutation_p.P64L|BRCA1_ENST00000309486.4_Missense_Mutation_p.P1535L|BRCA1_ENST00000354071.3_Missense_Mutation_p.P1566L|BRCA1_ENST00000468300.1_3'UTR|BRCA1_ENST00000471181.2_Missense_Mutation_p.P1852L|BRCA1_ENST00000586385.1_Missense_Mutation_p.P141L|BRCA1_ENST00000493795.1_Missense_Mutation_p.P1784L	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1831	BRCT 2. {ECO:0000255|PROSITE- ProRule:PRU00033}.				androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P1831L(1)		NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GGTCACCACAGGTGCCTCACA	0.532			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																													yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	familial breast/ovarian cancer gene 1		E	1	Substitution - Missense(1)	kidney(1)	GRCh37	CD992736	BRCA1	D	rs80357582						100.0	84.0	89.0					17																	41197795		2203	4300	6503	SO:0001583	missense	672	Familial Cancer Database		U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1100	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 1"", ""protein phosphatase 1, regulatory subunit 53"""	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.5492C>T	17.37:g.41197795G>A	ENSP00000350283:p.Pro1831Leu		O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Missense_Mutation	SNP	ENST00000357654.3	37	CCDS11453.1	.	.	.	.	.	.	.	.	.	.	G	9.738	1.164166	0.21538	.	.	ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000354071;ENST00000352993;ENST00000346315;ENST00000351666;ENST00000309486;ENST00000393691;ENST00000471181;ENST00000493795;ENST00000491747	D;D;D;D;D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54;-1.54;-1.54;-1.54;-1.54	5.32	4.33	0.51752	BRCT (4);	0.255410	0.28225	N	0.016122	T	0.81898	0.4920	L	0.27053	0.805	0.30792	N	0.740831	P;B;D;D;D;D	0.71674	0.945;0.003;0.994;0.998;0.998;0.997	P;B;P;D;D;D	0.70227	0.6;0.002;0.902;0.968;0.968;0.946	T	0.81180	-0.1050	10	0.66056	D	0.02	.	11.5356	0.50634	0.0:0.1884:0.8116:0.0	.	680;141;726;1853;1831;1831	B4DES0;C6YB45;E7ETR2;E9PFC7;P38398;P38398-2	.;.;.;.;BRCA1_HUMAN;.	L	1831;1852;1566;689;1592;648;1535;680;1853;1784;726	ENSP00000350283:P1831L;ENSP00000326002:P1566L;ENSP00000312236:P689L;ENSP00000246907:P1592L;ENSP00000338007:P648L;ENSP00000310938:P1535L;ENSP00000377294:P680L;ENSP00000418775:P1784L	ENSP00000310938:P1535L	P	-	2	0	BRCA1	38451321	0.021000	0.18746	0.461000	0.27105	0.960000	0.62799	1.164000	0.31810	1.438000	0.47492	0.563000	0.77884	CCT		0.532	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2		NM_007294	
CEP131	22994	broad.mit.edu;ucsc.edu	37	17	79180636	79180636	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4998-01A-01D-1462-08	TCGA-BP-4998-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e646f930-967b-43a3-bd70-184e5c38efe5	10e99e0b-b3d0-4fbe-ab04-a579616e45a9	g.chr17:79180636A>T	ENST00000269392.4	-	5	670	c.423T>A	c.(421-423)aaT>aaA	p.N141K	AZI1_ENST00000450824.2_Missense_Mutation_p.N141K|AZI1_ENST00000570482.2_5'Flank|AZI1_ENST00000575907.1_Missense_Mutation_p.N141K|AZI1_ENST00000374782.3_Missense_Mutation_p.N141K	NM_014984.2	NP_055799.2	Q9UPN4	CP131_HUMAN		141					cell differentiation (GO:0030154)|G2/M transition of mitotic cell cycle (GO:0000086)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular protein transport (GO:0090316)|regulation of centrosome duplication (GO:0010824)|spermatogenesis (GO:0007283)	BBSome (GO:0034464)|cell projection (GO:0042995)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)	p.N141K(2)		breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			AACTCCGGGCATTGGATGGCA	0.637																																																	2	Substitution - Missense(2)	kidney(2)											62.0	72.0	68.0					17																	79180636		2203	4300	6503	SO:0001583	missense	22994																														ENST00000269392.4:c.423T>A	17.37:g.79180636A>T	ENSP00000269392:p.Asn141Lys		A6NHI8|B2RN11|Q96F50	Missense_Mutation	SNP	ENST00000269392.4	37		.	.	.	.	.	.	.	.	.	.	a	17.92	3.506408	0.64410	.	.	ENSG00000141577	ENST00000450824;ENST00000374782;ENST00000269392	T;T;T	0.13901	2.55;2.55;2.55	4.52	-8.54	0.00912	.	0.797754	0.10715	N	0.642464	T	0.05914	0.0154	N	0.22421	0.69	0.09310	N	1	B;B;B;B	0.25169	0.0;0.0;0.0;0.119	B;B;B;B	0.21917	0.001;0.001;0.001;0.037	T	0.28554	-1.0040	10	0.40728	T	0.16	-6.3254	4.4472	0.11604	0.5073:0.0965:0.2988:0.0974	.	141;141;141;141	B2RN10;Q9UPN4;Q9UPN4-3;Q9UPN4-2	.;AZI1_HUMAN;.;.	K	141	ENSP00000393583:N141K;ENSP00000363914:N141K;ENSP00000269392:N141K	ENSP00000269392:N141K	N	-	3	2	AZI1	76795231	0.000000	0.05858	0.000000	0.03702	0.692000	0.40212	-0.596000	0.05720	-1.379000	0.02118	0.316000	0.21350	AAT		0.637	AZI1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000256070.1			
C3	718	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	6681963	6681963	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4998-01A-01D-1462-08	TCGA-BP-4998-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e646f930-967b-43a3-bd70-184e5c38efe5	10e99e0b-b3d0-4fbe-ab04-a579616e45a9	g.chr19:6681963A>G	ENST00000245907.6	-	35	4431	c.4339T>C	c.(4339-4341)Tac>Cac	p.Y1447H	C3_ENST00000599668.1_5'Flank	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1447	Properdin-binding.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)	p.Y1447H(1)		breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	TTGTCCAGGTAGATGATGAGG	0.527																																																	1	Substitution - Missense(1)	kidney(1)											179.0	164.0	169.0					19																	6681963		2203	4300	6503	SO:0001583	missense	718			J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.4339T>C	19.37:g.6681963A>G	ENSP00000245907:p.Tyr1447His		A7E236	Missense_Mutation	SNP	ENST00000245907.6	37	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.391608	0.83011	.	.	ENSG00000125730	ENST00000245907	T	0.56275	0.47	5.71	5.71	0.89125	Alpha-macroglobulin, receptor-binding (3);	0.238434	0.44285	D	0.000468	T	0.78207	0.4247	M	0.91561	3.22	0.54753	D	0.999982	D	0.89917	1.0	D	0.97110	1.0	T	0.83200	-0.0079	10	0.66056	D	0.02	.	14.9604	0.71153	1.0:0.0:0.0:0.0	.	1447	P01024	CO3_HUMAN	H	1447	ENSP00000245907:Y1447H	ENSP00000245907:Y1447H	Y	-	1	0	C3	6632963	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.767000	0.68850	2.176000	0.68965	0.478000	0.44815	TAC		0.527	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2		NM_000064	
C6orf62	81688	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	24714642	24714642	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4998-01A-01D-1462-08	TCGA-BP-4998-11A-01D-1462-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	e646f930-967b-43a3-bd70-184e5c38efe5	10e99e0b-b3d0-4fbe-ab04-a579616e45a9	g.chr6:24714642C>T	ENST00000378119.4	-	3	2500	c.333G>A	c.(331-333)atG>atA	p.M111I	C6orf62_ENST00000378102.3_Missense_Mutation_p.M82I|C6orf62_ENST00000540769.1_Missense_Mutation_p.M53I	NM_030939.4	NP_112201.1	Q9GZU0	CF062_HUMAN	chromosome 6 open reading frame 62	111						intracellular (GO:0005622)		p.M111I(1)		endometrium(2)|kidney(3)|large_intestine(2)|lung(3)	10						GAATGAAATCCATCTCCTGAG	0.348																																																	1	Substitution - Missense(1)	kidney(1)											70.0	72.0	71.0					6																	24714642		2203	4300	6503	SO:0001583	missense	81688			AL136632	CCDS4559.1	6p22.1	2011-12-13			ENSG00000112308	ENSG00000112308			20998	protein-coding gene	gene with protein product	"""HBV X-transactivated protein 12"""					11230166	Standard	NM_030939		Approved	FLJ12619, DKFZP564G182, XTP12	uc003nel.3	Q9GZU0	OTTHUMG00000014361	ENST00000378119.4:c.333G>A	6.37:g.24714642C>T	ENSP00000367359:p.Met111Ile		Q3LIB6|Q5JVZ2|Q5JVZ3|Q6IA63|Q9H1Z2	Missense_Mutation	SNP	ENST00000378119.4	37	CCDS4559.1	.	.	.	.	.	.	.	.	.	.	C	17.49	3.402264	0.62288	.	.	ENSG00000112308	ENST00000378119;ENST00000540769;ENST00000378102	T;T;T	0.28255	1.62;1.62;1.62	5.78	4.86	0.63082	.	0.033597	0.85682	D	0.000000	T	0.11239	0.0274	N	0.14661	0.345	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.03068	-1.1076	10	0.41790	T	0.15	-12.8086	16.6587	0.85235	0.0:0.8705:0.1295:0.0	.	111	Q9GZU0	CF062_HUMAN	I	111;53;82	ENSP00000367359:M111I;ENSP00000446225:M53I;ENSP00000367342:M82I	ENSP00000367342:M82I	M	-	3	0	C6orf62	24822621	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.968000	0.70413	2.894000	0.99253	0.591000	0.81541	ATG		0.348	C6orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040017.1		NM_030939	
CASC1	55259	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	25264775	25264775	+	Silent	SNP	A	A	T			TCGA-BP-4998-01A-01D-1462-08	TCGA-BP-4998-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e646f930-967b-43a3-bd70-184e5c38efe5	10e99e0b-b3d0-4fbe-ab04-a579616e45a9	g.chr12:25264775A>T	ENST00000320267.9	-	13	1773	c.1692T>A	c.(1690-1692)gcT>gcA	p.A564A	CASC1_ENST00000557684.1_5'Flank|CASC1_ENST00000395990.2_Silent_p.A524A|CASC1_ENST00000537577.1_Silent_p.A452A|CASC1_ENST00000395987.3_Silent_p.A570A|CASC1_ENST00000545133.1_Silent_p.A505A|CASC1_ENST00000354189.5_Silent_p.A628A	NM_001082973.1	NP_001076442	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	564								p.A628A(1)|p.A570A(1)		breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			CTTCTTTCAAAGCAATAATGA	0.328																																																	2	Substitution - coding silent(2)	kidney(2)											86.0	86.0	86.0					12																	25264775		2203	4296	6499	SO:0001819	synonymous_variant	55259			AK093102	CCDS31759.2, CCDS41762.1, CCDS41763.1, CCDS55810.1, CCDS55811.1	12p12.1	2012-04-17			ENSG00000118307	ENSG00000118307		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 54"""					14583591	Standard	NM_018272		Approved	LAS1, FLJ10921, PPP1R54	uc001rgk.3	Q6TDU7	OTTHUMG00000150195	ENST00000320267.9:c.1692T>A	12.37:g.25264775A>T			B4DNP2|F5H6T6|Q17RL2|Q4G171|Q5U5K5|Q9NV50	Silent	SNP	ENST00000320267.9	37	CCDS41762.1	.	.	.	.	.	.	.	.	.	.	A	2.342	-0.350847	0.05173	.	.	ENSG00000118307	ENST00000556006	.	.	.	5.09	-1.51	0.08664	.	.	.	.	.	T	0.39200	0.1069	.	.	.	0.58432	D	0.999993	.	.	.	.	.	.	T	0.27706	-1.0066	4	.	.	.	-15.2884	1.0466	0.01571	0.4619:0.1498:0.2439:0.1443	.	.	.	.	I	401	.	.	F	-	1	0	CASC1	25156042	0.834000	0.29399	0.456000	0.27044	0.225000	0.24961	0.704000	0.25661	-0.186000	0.10533	0.528000	0.53228	TTT		0.328	CASC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316761.1		NM_018272	
CENPJ	55835	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	25466970	25466970	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4998-01A-01D-1462-08	TCGA-BP-4998-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e646f930-967b-43a3-bd70-184e5c38efe5	10e99e0b-b3d0-4fbe-ab04-a579616e45a9	g.chr13:25466970A>T	ENST00000381884.4	-	10	3212	c.3027T>A	c.(3025-3027)gaT>gaA	p.D1009E	CENPJ_ENST00000545981.1_Missense_Mutation_p.D1009E	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	1009					cell division (GO:0051301)|centriole replication (GO:0007099)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin small complex (GO:0008275)|microtubule (GO:0005874)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|tubulin binding (GO:0015631)	p.D1009E(1)		endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		TTCTTTTCAAATCTTCCCGTA	0.343																																																	1	Substitution - Missense(1)	kidney(1)											155.0	151.0	152.0					13																	25466970		2203	4300	6503	SO:0001583	missense	55835			AF139625	CCDS9310.1	13q12.12	2013-11-05			ENSG00000151849	ENSG00000151849			17272	protein-coding gene	gene with protein product	"""centrosomal P4.1-associated protein"""	609279	"""microcephaly, primary autosomal recessive 6"""	MCPH6		11003675, 22699936	Standard	NM_018451		Approved	CPAP, BM032, LAP, LIP1, Sas-4, SASS4, SCKL4	uc001upt.5	Q9HC77	OTTHUMG00000016595	ENST00000381884.4:c.3027T>A	13.37:g.25466970A>T	ENSP00000371308:p.Asp1009Glu		Q2KHM6|Q5JPD5|Q5T6R5|Q96KS5|Q9C067	Missense_Mutation	SNP	ENST00000381884.4	37	CCDS9310.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.881|9.881	1.201581|1.201581	0.22121|0.22121	.|.	.|.	ENSG00000151849|ENSG00000151849	ENST00000381884;ENST00000545981;ENST00000445729|ENST00000418179	T;T|.	0.30182|.	1.54;2.16|.	5.22|5.22	-2.21|-2.21	0.06973|0.06973	.|.	0.150048|.	0.64402|.	N|.	0.000013|.	T|T	0.20251|0.20251	0.0487|0.0487	N|N	0.25380|0.25380	0.74|0.74	0.25848|0.25848	N|N	0.983976|0.983976	B;B|.	0.17852|.	0.024;0.005|.	B;B|.	0.16722|.	0.016;0.008|.	T|T	0.28138|0.28138	-1.0053|-1.0053	10|5	0.02654|.	T|.	1|.	.|.	2.7311|2.7311	0.05227|0.05227	0.342:0.1328:0.3957:0.1296|0.342:0.1328:0.3957:0.1296	.|.	90;1009|.	Q5T6R6;Q9HC77|.	.;CENPJ_HUMAN|.	E|I	1009|91	ENSP00000371308:D1009E;ENSP00000441090:D1009E|.	ENSP00000371308:D1009E|.	D|F	-|-	3|1	2|0	CENPJ|CENPJ	24364970|24364970	0.152000|0.152000	0.22762|0.22762	0.963000|0.963000	0.40424|0.40424	0.984000|0.984000	0.73092|0.73092	0.494000|0.494000	0.22467|0.22467	-0.154000|-0.154000	0.11118|0.11118	0.454000|0.454000	0.30748|0.30748	GAT|TTT		0.343	CENPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044209.1		NM_018451	
COL6A2	1292	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	47542435	47542435	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4998-01A-01D-1462-08	TCGA-BP-4998-11A-01D-1462-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	e646f930-967b-43a3-bd70-184e5c38efe5	10e99e0b-b3d0-4fbe-ab04-a579616e45a9	g.chr21:47542435G>A	ENST00000300527.4	+	20	1702	c.1598G>A	c.(1597-1599)cGc>cAc	p.R533H	COL6A2_ENST00000397763.1_Missense_Mutation_p.R533H|COL6A2_ENST00000310645.5_Missense_Mutation_p.R533H|COL6A2_ENST00000357838.4_Missense_Mutation_p.R533H|COL6A2_ENST00000409416.1_Missense_Mutation_p.R533H	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	533	Triple-helical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)		p.R533H(3)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CCCGGCCCACGCGGCCCCGAG	0.632																																																	3	Substitution - Missense(3)	kidney(3)											47.0	52.0	51.0					21																	47542435		2203	4299	6502	SO:0001583	missense	1292			M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"""Collagens"""	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.1598G>A	21.37:g.47542435G>A	ENSP00000300527:p.Arg533His		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Missense_Mutation	SNP	ENST00000300527.4	37	CCDS13728.1	.	.	.	.	.	.	.	.	.	.	G	6.214	0.407706	0.11754	.	.	ENSG00000142173	ENST00000300527;ENST00000357838;ENST00000310645;ENST00000409416;ENST00000397763;ENST00000413758	D;D;D;D;D;D	0.94280	-3.39;-3.39;-3.39;-3.39;-3.39;-3.2	4.33	-5.84	0.02318	.	1.813920	0.03590	N	0.231715	D	0.91683	0.7371	M	0.68317	2.08	0.09310	N	1	P;P;B	0.48407	0.91;0.726;0.423	B;B;B	0.42593	0.392;0.131;0.131	D	0.86561	0.1841	10	0.54805	T	0.06	0.1811	11.5228	0.50562	0.1615:0.6056:0.2329:0.0	.	533;533;533	P12110;P12110-2;P12110-3	CO6A2_HUMAN;.;.	H	533;533;533;533;533;74	ENSP00000300527:R533H;ENSP00000350497:R533H;ENSP00000312529:R533H;ENSP00000387115:R533H;ENSP00000380870:R533H;ENSP00000395751:R74H	ENSP00000300527:R533H	R	+	2	0	COL6A2	46366863	0.000000	0.05858	0.000000	0.03702	0.093000	0.18481	-1.061000	0.03472	-0.966000	0.03587	-0.339000	0.08088	CGC		0.632	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1			
CTRC	11330	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	15771156	15771156	+	Silent	SNP	C	C	T	rs554399153		TCGA-BP-4998-01A-01D-1462-08	TCGA-BP-4998-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e646f930-967b-43a3-bd70-184e5c38efe5	10e99e0b-b3d0-4fbe-ab04-a579616e45a9	g.chr1:15771156C>T	ENST00000375949.4	+	6	575	c.549C>T	c.(547-549)caC>caT	p.H183H	CTRC_ENST00000483406.1_Intron|CTRC_ENST00000375943.2_Intron	NM_007272.2	NP_009203.2	Q99895	CTRC_HUMAN	chymotrypsin C (caldecrin)	183	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)		peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)	p.H183H(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)	13		Breast(348;0.000207)|all_lung(284;0.00021)|Colorectal(325;0.000257)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)|Hepatocellular(190;0.0634)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGGTGGATCACGCCACGTGCT	0.632													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19440	0.0		0.0	False		,,,				2504	0.0																1	Substitution - coding silent(1)	kidney(1)											73.0	67.0	69.0					1																	15771156		2203	4300	6503	SO:0001819	synonymous_variant	11330			BC015118	CCDS156.1	1p36.21	2009-02-18			ENSG00000162438	ENSG00000162438	3.4.21.2		2523	protein-coding gene	gene with protein product	"""elastase 4"""	601405				8635596	Standard	NM_007272		Approved	CLCR, ELA4	uc001awi.1	Q99895	OTTHUMG00000002255	ENST00000375949.4:c.549C>T	1.37:g.15771156C>T			A8K082|O00765|Q9NUH5	Silent	SNP	ENST00000375949.4	37	CCDS156.1																																																																																				0.632	CTRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006435.1		NM_007272	
SHC4	399694	broad.mit.edu	37	15	49170496	49170496	+	Intron	SNP	C	C	A			TCGA-BP-4998-01A-01D-1462-08	TCGA-BP-4998-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e646f930-967b-43a3-bd70-184e5c38efe5	10e99e0b-b3d0-4fbe-ab04-a579616e45a9	g.chr15:49170496C>A	ENST00000332408.4	-	4	1269				EID1_ENST00000558295.1_Intron|SHC4_ENST00000537958.1_5'Flank|SHC4_ENST00000396535.3_5'Flank|EID1_ENST00000530028.2_Silent_p.S41S|EID1_ENST00000560490.1_Intron	NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN	SHC (Src homology 2 domain containing) family, member 4						apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of cell proliferation (GO:0008284)|regulation of gene expression (GO:0010468)|stem cell differentiation (GO:0048863)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)		p.S41S(1)		breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		GGGAGCTATCCCTGCGTCCCT	0.662																																																	1	Substitution - coding silent(1)	kidney(1)											50.0	54.0	53.0					15																	49170496		2035	4173	6208	SO:0001627	intron_variant	23741			AY358250	CCDS10130.1	15q21.1-q21.2	2013-02-14			ENSG00000185634	ENSG00000185634		"""SH2 domain containing"""	16743	protein-coding gene	gene with protein product	"""rai-like protein"""						Standard	NM_203349		Approved	RaLP	uc001zxb.1	Q6S5L8	OTTHUMG00000131513	ENST00000332408.4:c.840+5948G>T	15.37:g.49170496C>A			Q6UXQ3|Q8IYW3	Silent	SNP	ENST00000332408.4	37	CCDS10130.1																																																																																				0.662	SHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254371.1		NM_203349	
HEXDC	284004	broad.mit.edu	37	17	80400154	80400154	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4998-01A-01D-1462-08	TCGA-BP-4998-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e646f930-967b-43a3-bd70-184e5c38efe5	10e99e0b-b3d0-4fbe-ab04-a579616e45a9	g.chr17:80400154A>C	ENST00000327949.9	+	12	1366	c.1355A>C	c.(1354-1356)cAc>cCc	p.H452P	HEXDC_ENST00000337014.6_Missense_Mutation_p.T482P|HEXDC_ENST00000577944.1_Silent_p.A454A			Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing	452					carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	beta-N-acetylhexosaminidase activity (GO:0004563)	p.T482P(4)		breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			GAAAACGTGCACCCCAGCCTG	0.677																																																	4	Substitution - Missense(4)	lung(2)|kidney(2)											19.0	23.0	22.0					17																	80400154		2027	4180	6207	SO:0001583	missense	284004			AK074405	CCDS42402.1	17q25.3	2011-12-19			ENSG00000169660	ENSG00000169660			26307	protein-coding gene	gene with protein product						12477932	Standard	NM_173620		Approved	FLJ23825	uc002kev.4	Q8WVB3		ENST00000327949.9:c.1355A>C	17.37:g.80400154A>C	ENSP00000332634:p.His452Pro		B7UUP6|Q8IYN4|Q8TE81	Missense_Mutation	SNP	ENST00000327949.9	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.539|9.539	1.112830|1.112830	0.20795|0.20795	.|.	.|.	ENSG00000169660|ENSG00000169660	ENST00000327949|ENST00000337014	T|T	0.30182|0.38077	1.54|1.16	5.25|5.25	-6.61|-6.61	0.01818|0.01818	.|.	.|36.350000	.|0.00166	.|N	.|0.000000	T|T	0.29355|0.29355	0.0731|0.0731	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	P|D	0.47604|0.53151	0.898|0.958	B|P	0.41271|0.47981	0.352|0.563	T|T	0.44862|0.44862	-0.9300|-0.9300	8|8	0.36615|.	T|.	0.2|.	-1.361|-1.361	1.0988|1.0988	0.01679|0.01679	0.252:0.1099:0.3008:0.3374|0.252:0.1099:0.3008:0.3374	.|.	452|482	Q8WVB3|Q8WVB3-2	HEXDC_HUMAN|.	P|P	452|482	ENSP00000332634:H452P|ENSP00000337854:T482P	ENSP00000332634:H452P|.	H|T	+|+	2|1	0|0	HEXDC|HEXDC	77993443|77993443	0.001000|0.001000	0.12720|0.12720	0.039000|0.039000	0.18376|0.18376	0.795000|0.795000	0.44927|0.44927	0.116000|0.116000	0.15561|0.15561	-1.797000|-1.797000	0.01252|0.01252	-0.496000|-0.496000	0.04628|0.04628	CAC|ACC		0.677	HEXDC-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000443513.1		NM_173620	
KIAA0754	643314	broad.mit.edu	37	1	39879328	39879328	+	Missense_Mutation	SNP	G	G	A	rs200402688		TCGA-BP-4998-01A-01D-1462-08	TCGA-BP-4998-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e646f930-967b-43a3-bd70-184e5c38efe5	10e99e0b-b3d0-4fbe-ab04-a579616e45a9	g.chr1:39879328G>A	ENST00000530275.1	+	1	3178	c.2983G>A	c.(2983-2985)Gcc>Acc	p.A995T	MACF1_ENST00000317713.7_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000372915.3_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	995	Ala-rich.									central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGAGGAGCCCGCCTCCCCAGC	0.711																																																	0													6.0	9.0	8.0					1																	39879328		1762	3989	5751	SO:0001583	missense	643314					1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.2983G>A	1.37:g.39879328G>A	ENSP00000431179:p.Ala995Thr		E9PMC2|Q6ZSB2	Missense_Mutation	SNP	ENST00000530275.1	37		.	.	.	.	.	.	.	.	.	.	g	8.525	0.869593	0.17322	.	.	ENSG00000255103	ENST00000530275	T	0.24723	1.84	4.35	2.3	0.28687	.	.	.	.	.	T	0.11281	0.0275	N	0.14661	0.345	0.09310	N	1	P	0.37441	0.595	B	0.33392	0.163	T	0.20140	-1.0284	9	0.13108	T	0.6	.	6.1256	0.20177	0.3518:0.0:0.6482:0.0	.	995	O94854	K0754_HUMAN	T	995	ENSP00000431179:A995T	ENSP00000431179:A995T	A	+	1	0	RP4-562N20.1	39651915	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-0.889000	0.04144	0.509000	0.28195	0.498000	0.49722	GCC		0.711	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392100.1		NM_015038	
IRF2BP2	359948	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	234743247	234743247	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4998-01A-01D-1462-08	TCGA-BP-4998-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e646f930-967b-43a3-bd70-184e5c38efe5	10e99e0b-b3d0-4fbe-ab04-a579616e45a9	g.chr1:234743247C>A	ENST00000366609.3	-	2	1430	c.1400G>T	c.(1399-1401)aGa>aTa	p.R467I	RP4-781K5.2_ENST00000436039.1_RNA|IRF2BP2_ENST00000366610.3_Missense_Mutation_p.R451I|IRF2BP2_ENST00000491430.1_5'UTR	NM_182972.2	NP_892017.2	Q7Z5L9	I2BP2_HUMAN	interferon regulatory factor 2 binding protein 2	467					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.R467I(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)			GCCCAGCCTTCTTTGGTTCAT	0.612																																																	1	Substitution - Missense(1)	kidney(1)											108.0	116.0	113.0					1																	234743247		2203	4300	6503	SO:0001583	missense	359948			AY278023	CCDS1602.1, CCDS41475.1	1q42.3	2008-02-05			ENSG00000168264	ENSG00000168264			21729	protein-coding gene	gene with protein product		615332				12799427	Standard	NM_182972		Approved	IRF-2BP2	uc001hwg.3	Q7Z5L9	OTTHUMG00000037981	ENST00000366609.3:c.1400G>T	1.37:g.234743247C>A	ENSP00000355568:p.Arg467Ile		B1AM35|B1AM36|Q6P083|Q7Z5L8|Q8N351|Q8WUH8	Missense_Mutation	SNP	ENST00000366609.3	37	CCDS1602.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.799014	0.90538	.	.	ENSG00000168264	ENST00000366610;ENST00000366609	T;T	0.35421	1.31;1.32	5.64	5.64	0.86602	.	0.048540	0.85682	D	0.000000	T	0.53433	0.1796	L	0.40543	1.245	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.71656	0.942;0.974	T	0.50651	-0.8803	10	0.54805	T	0.06	-7.1961	19.6878	0.95987	0.0:1.0:0.0:0.0	.	467;451	Q7Z5L9;Q7Z5L9-2	I2BP2_HUMAN;.	I	451;467	ENSP00000355569:R451I;ENSP00000355568:R467I	ENSP00000355568:R467I	R	-	2	0	IRF2BP2	232809870	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.852000	0.75430	2.670000	0.90874	0.655000	0.94253	AGA		0.612	IRF2BP2-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000092705.1		NM_182972	
KNG1	3827	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	186459690	186459690	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4998-01A-01D-1462-08	TCGA-BP-4998-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e646f930-967b-43a3-bd70-184e5c38efe5	10e99e0b-b3d0-4fbe-ab04-a579616e45a9	g.chr3:186459690G>A	ENST00000265023.4	+	10	1717	c.1505G>A	c.(1504-1506)gGc>gAc	p.G502D	RP11-573D15.8_ENST00000354642.2_RNA|KNG1_ENST00000287611.2_Intron|RP11-573D15.8_ENST00000609726.1_RNA|RP11-573D15.8_ENST00000596632.1_RNA|RP11-573D15.8_ENST00000609652.1_RNA|RP11-573D15.8_ENST00000599314.1_RNA|RP11-573D15.8_ENST00000596329.1_RNA|KNG1_ENST00000447445.1_Intron	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	502	His-rich.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|inflammatory response (GO:0006954)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|smooth muscle contraction (GO:0006939)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)	p.G502D(1)		endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)		CATGGTCATGGCCACGGAAAA	0.423																																																	1	Substitution - Missense(1)	kidney(1)											54.0	51.0	52.0					3																	186459690		1974	4148	6122	SO:0001583	missense	3827				CCDS3281.1, CCDS43183.1, CCDS54695.1	3q27.3	2014-05-15	2004-05-21	2004-05-26	ENSG00000113889	ENSG00000113889		"""Endogenous ligands"""	6383	protein-coding gene	gene with protein product	"""alpha-2-thiol proteinase inhibitor"", ""bradykinin"""	612358	"""kininogen"""	KNG, BDK		1733668	Standard	NM_000893		Approved	BK	uc011bsa.2	P01042	OTTHUMG00000150348	ENST00000265023.4:c.1505G>A	3.37:g.186459690G>A	ENSP00000265023:p.Gly502Asp		A8K474|B2RCR2|C9JEX1|P01043|Q53EQ0|Q6PAU9|Q7M4P1	Missense_Mutation	SNP	ENST00000265023.4	37	CCDS43183.1	.	.	.	.	.	.	.	.	.	.	G	11.69	1.714753	0.30413	.	.	ENSG00000113889	ENST00000265023	T	0.50277	0.75	5.33	2.54	0.30619	.	0.454556	0.18855	N	0.129299	T	0.39384	0.1076	M	0.68952	2.095	0.80722	D	1	B	0.32829	0.386	B	0.25884	0.064	T	0.12268	-1.0554	9	.	.	.	-1.6955	7.8129	0.29241	0.2652:0.0:0.7348:0.0	.	502	P01042	KNG1_HUMAN	D	502	ENSP00000265023:G502D	.	G	+	2	0	KNG1	187942384	1.000000	0.71417	0.091000	0.20842	0.100000	0.18952	3.506000	0.53364	0.329000	0.23460	0.655000	0.94253	GGC		0.423	KNG1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317738.1		NM_001102416	
H3F3AP5	347376	broad.mit.edu	37	X	50648692	50648692	+	IGR	SNP	C	C	T			TCGA-BP-4998-01A-01D-1462-08	TCGA-BP-4998-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e646f930-967b-43a3-bd70-184e5c38efe5	10e99e0b-b3d0-4fbe-ab04-a579616e45a9	g.chrX:50648692C>T								SHROOM4 (91390 upstream) : BMP15 (5091 downstream)														p.F213F(1)									ATCTGCGCTTCCAGAGGGCAG	0.483																																																	1	Substitution - coding silent(1)	kidney(1)																																								SO:0001628	intergenic_variant	0																															X.37:g.50648692C>T				Silent	SNP		37																																																																																				0	0.483									
LRP11	84918	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	150174138	150174138	+	Splice_Site	SNP	C	C	A			TCGA-BP-4998-01A-01D-1462-08	TCGA-BP-4998-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e646f930-967b-43a3-bd70-184e5c38efe5	10e99e0b-b3d0-4fbe-ab04-a579616e45a9	g.chr6:150174138C>A	ENST00000239367.2	-	2	777		c.e2+1		LRP11_ENST00000367368.2_Splice_Site|LRP11_ENST00000546019.1_Splice_Site|RP11-350J20.12_ENST00000472053.2_RNA	NM_032832.5	NP_116221.3	Q86VZ4	LRP11_HUMAN	low density lipoprotein receptor-related protein 11							integral component of membrane (GO:0016021)		p.?(1)		cervix(1)|kidney(5)|large_intestine(1)|lung(1)	8		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225)		ACATGCGTTACCTTCATGTCC	0.522																																																	1	Unknown(1)	kidney(1)											88.0	80.0	83.0					6																	150174138		2203	4300	6503	SO:0001630	splice_region_variant	84918			AK027641	CCDS5220.1	6q24.3	2013-02-27			ENSG00000120256	ENSG00000120256		"""Low density lipoprotein receptors"""	16936	protein-coding gene	gene with protein product							Standard	NM_032832		Approved	bA350J20.3, MANSC3	uc003qng.2	Q86VZ4	OTTHUMG00000015801	ENST00000239367.2:c.771+1G>T	6.37:g.150174138C>A			Q5VYC0|Q96SN6	Splice_Site	SNP	ENST00000239367.2	37	CCDS5220.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.187334	0.78789	.	.	ENSG00000120256	ENST00000239367;ENST00000546019;ENST00000367368	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2004	0.82067	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LRP11	150215831	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	6.968000	0.76086	2.562000	0.86427	0.591000	0.81541	.		0.522	LRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042664.1		NM_032832	Intron
NBEAL2	23218	broad.mit.edu	37	3	47043759	47043759	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4998-01A-01D-1462-08	TCGA-BP-4998-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e646f930-967b-43a3-bd70-184e5c38efe5	10e99e0b-b3d0-4fbe-ab04-a579616e45a9	g.chr3:47043759G>A	ENST00000450053.3	+	31	5311	c.5132G>A	c.(5131-5133)cGc>cAc	p.R1711H	NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Missense_Mutation_p.R1527H	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1711					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)		p.R1088H(1)|p.R1711H(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CCCGAATGGCGCCACTTCATC	0.627																																																	2	Substitution - Missense(2)	kidney(2)											34.0	33.0	33.0					3																	47043759		1973	4159	6132	SO:0001583	missense	23218			AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"""WD repeat domain containing"""	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.5132G>A	3.37:g.47043759G>A	ENSP00000415034:p.Arg1711His		O60288|Q6P994|Q6UX91|Q8NAC9	Missense_Mutation	SNP	ENST00000450053.3	37	CCDS46817.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.4|20.4	3.983673|3.983673	0.74474|0.74474	.|.	.|.	ENSG00000160796|ENSG00000160796	ENST00000416683|ENST00000292309;ENST00000450053	.|T;T	.|0.58210	.|0.37;0.35	4.32|4.32	4.32|4.32	0.51571|0.51571	.|.	.|0.139864	.|0.47093	.|D	.|0.000258	T|T	0.66479|0.66479	0.2793|0.2793	M|M	0.63843|0.63843	1.955|1.955	0.80722|0.80722	D|D	1|1	.|D;D	.|0.69078	.|0.997;0.997	.|P;P	.|0.61722	.|0.847;0.893	T|T	0.69738|0.69738	-0.5064|-0.5064	5|10	.|0.54805	.|T	.|0.06	.|.	15.6046|15.6046	0.76652|0.76652	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1527;1711	.|Q6ZNJ1-2;Q6ZNJ1	.|.;NBEL2_HUMAN	T|H	999|1527;1711	.|ENSP00000292309:R1527H;ENSP00000415034:R1711H	.|ENSP00000292309:R1527H	A|R	+|+	1|2	0|0	NBEAL2|NBEAL2	47018763|47018763	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	4.172000|4.172000	0.58243|0.58243	2.257000|2.257000	0.74773|0.74773	0.555000|0.555000	0.69702|0.69702	GCC|CGC		0.627	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3		XM_291064	
NKAIN3	286183	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	63492147	63492147	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4998-01A-01D-1462-08	TCGA-BP-4998-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e646f930-967b-43a3-bd70-184e5c38efe5	10e99e0b-b3d0-4fbe-ab04-a579616e45a9	g.chr8:63492147C>G	ENST00000523211.1	+	2	236	c.104C>G	c.(103-105)gCg>gGg	p.A35G	NKAIN3_ENST00000519049.1_3'UTR|NKAIN3_ENST00000328472.5_Missense_Mutation_p.A35G	NM_173688.2	NP_775959.1	Q8N8D7	NKAI3_HUMAN	Na+/K+ transporting ATPase interacting 3	35						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A35G(1)		kidney(3)|large_intestine(2)|lung(8)	13	Breast(64;0.127)	Lung NSC(129;0.187)				TTCCAGTGGGCGCCTATTCTT	0.383																																																	1	Substitution - Missense(1)	kidney(1)											174.0	169.0	170.0					8																	63492147		1839	4089	5928	SO:0001583	missense	286183			AK096949	CCDS55239.1	8q12.3	2014-08-12	2007-10-04	2007-10-04	ENSG00000185942	ENSG00000185942		"""Na+/K+ transporting ATPase interacting"""	26829	protein-coding gene	gene with protein product		612872	"""family with sequence similarity 77, member D"""	FAM77D		17606467	Standard	NM_173688		Approved	FLJ39630	uc010lyq.1	Q8N8D7	OTTHUMG00000164361	ENST00000523211.1:c.104C>G	8.37:g.63492147C>G	ENSP00000429073:p.Ala35Gly			Missense_Mutation	SNP	ENST00000523211.1	37	CCDS55239.1	.	.	.	.	.	.	.	.	.	.	C	13.38	2.219086	0.39201	.	.	ENSG00000185942	ENST00000545532;ENST00000523211;ENST00000524201;ENST00000328472	T;T;T	0.19669	2.13;2.13;2.13	6.01	4.21	0.49690	.	0.000000	0.64402	D	0.000001	T	0.27832	0.0685	M	0.77313	2.365	0.58432	D	0.999994	P	0.36392	0.551	B	0.36922	0.236	T	0.04650	-1.0936	10	0.56958	D	0.05	-23.7165	11.3653	0.49668	0.0:0.8055:0.1266:0.0679	.	35	Q8N8D7	NKAI3_HUMAN	G	35	ENSP00000429073:A35G;ENSP00000429393:A35G;ENSP00000333627:A35G	ENSP00000333627:A35G	A	+	2	0	NKAIN3	63654701	1.000000	0.71417	0.737000	0.30932	0.014000	0.08584	7.805000	0.86005	0.870000	0.35726	-0.181000	0.13052	GCG		0.383	NKAIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378447.2		NM_173688	
NPHP1	4867	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	110919218	110919218	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4998-01A-01D-1462-08	TCGA-BP-4998-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e646f930-967b-43a3-bd70-184e5c38efe5	10e99e0b-b3d0-4fbe-ab04-a579616e45a9	g.chr2:110919218C>T	ENST00000393272.3	-	10	1178	c.1081G>A	c.(1081-1083)Gcc>Acc	p.A361T	NPHP1_ENST00000417665.1_Missense_Mutation_p.A305T|NPHP1_ENST00000316534.4_Missense_Mutation_p.A362T|NPHP1_ENST00000445609.2_Missense_Mutation_p.A306T|NPHP1_ENST00000355301.4_Missense_Mutation_p.A243T	NM_000272.3|NM_207181.2	NP_000263.2|NP_997064.2	O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	361					actin cytoskeleton organization (GO:0030036)|cell projection organization (GO:0030030)|cellular protein localization (GO:0034613)|excretion (GO:0007588)|photoreceptor cell outer segment organization (GO:0035845)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|spermatid differentiation (GO:0048515)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)	p.A362T(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						TCTCTGAAGGCCAGTTGTGAA	0.358																																																	1	Substitution - Missense(1)	kidney(1)											91.0	88.0	89.0					2																	110919218		2203	4300	6503	SO:0001583	missense	4867			AF023674	CCDS2086.1, CCDS46384.1, CCDS46385.1, CCDS46386.1	2q13	2014-01-28			ENSG00000144061	ENSG00000144061			7905	protein-coding gene	gene with protein product	"""nephrocystin-1"""	607100		NPH1			Standard	NM_000272		Approved	JBTS4, SLSN1	uc002tfm.4	O15259	OTTHUMG00000131195	ENST00000393272.3:c.1081G>A	2.37:g.110919218C>T	ENSP00000376953:p.Ala361Thr		O14837	Missense_Mutation	SNP	ENST00000393272.3	37	CCDS46385.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.028498	0.54790	.	.	ENSG00000144061	ENST00000316534;ENST00000445609;ENST00000393272;ENST00000355301;ENST00000417665	T;T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99;-0.99	5.32	3.5	0.40072	.	0.116998	0.64402	D	0.000018	T	0.80121	0.4565	L	0.59436	1.845	0.80722	D	1	D;D;D;D;D;D	0.69078	0.966;0.994;0.98;0.997;0.98;0.996	P;P;P;P;P;D	0.64776	0.577;0.874;0.758;0.874;0.758;0.929	T	0.78831	-0.2049	10	0.66056	D	0.02	-4.9014	8.4764	0.33016	0.153:0.765:0.0:0.082	.	305;305;243;361;306;362	B4DQY0;C9JNM7;O15259-3;O15259;O15259-2;O15259-4	.;.;.;NPHP1_HUMAN;.;.	T	362;306;361;243;305	ENSP00000313169:A362T;ENSP00000389879:A306T;ENSP00000376953:A361T;ENSP00000347452:A243T;ENSP00000402176:A305T	ENSP00000313169:A362T	A	-	1	0	NPHP1	110276507	1.000000	0.71417	1.000000	0.80357	0.327000	0.28475	3.605000	0.54088	0.609000	0.30018	-0.319000	0.08680	GCC		0.358	NPHP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253919.3		NM_000272	
OSBP	5007	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	59361486	59361486	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4998-01A-01D-1462-08	TCGA-BP-4998-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e646f930-967b-43a3-bd70-184e5c38efe5	10e99e0b-b3d0-4fbe-ab04-a579616e45a9	g.chr11:59361486T>G	ENST00000263847.1	-	8	2033	c.1554A>C	c.(1552-1554)gaA>gaC	p.E518D	MIR3162_ENST00000581818.1_RNA	NM_002556.2	NP_002547.1	P22059	OSBP1_HUMAN	oxysterol binding protein	518					lipid transport (GO:0006869)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	oxysterol binding (GO:0008142)	p.E518D(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		CCTTTACCTGTTCACAGAGGG	0.463																																																	1	Substitution - Missense(1)	kidney(1)											47.0	47.0	47.0					11																	59361486		2201	4295	6496	SO:0001583	missense	5007			AF185696	CCDS7974.1	11q12-q13	2013-01-10			ENSG00000110048	ENSG00000110048		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	8503	protein-coding gene	gene with protein product		167040					Standard	NM_002556		Approved	OSBP1	uc001noc.1	P22059	OTTHUMG00000167422	ENST00000263847.1:c.1554A>C	11.37:g.59361486T>G	ENSP00000263847:p.Glu518Asp		Q6P524	Missense_Mutation	SNP	ENST00000263847.1	37	CCDS7974.1	.	.	.	.	.	.	.	.	.	.	t	21.2	4.117427	0.77323	.	.	ENSG00000110048	ENST00000263847;ENST00000378235	D	0.96427	-4.01	5.91	1.84	0.25277	Oxysterol-binding protein, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.98413	0.9472	H	0.96333	3.805	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97934	1.0322	10	0.87932	D	0	-27.1622	10.0943	0.42466	0.0:0.7052:0.0:0.2948	.	518	P22059	OSBP1_HUMAN	D	518;118	ENSP00000263847:E518D	ENSP00000263847:E518D	E	-	3	2	OSBP	59118062	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	0.811000	0.27198	0.368000	0.24481	-1.158000	0.01797	GAA		0.463	OSBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394555.1			
PARP12	64761	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	139724549	139724549	+	Silent	SNP	G	G	C			TCGA-BP-4998-01A-01D-1462-08	TCGA-BP-4998-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e646f930-967b-43a3-bd70-184e5c38efe5	10e99e0b-b3d0-4fbe-ab04-a579616e45a9	g.chr7:139724549G>C	ENST00000263549.3	-	12	2790	c.1917C>G	c.(1915-1917)gcC>gcG	p.A639A		NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	639	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.					nucleus (GO:0005634)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)	p.A639A(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					AGCCCTCCTTGGCCGGCGGAC	0.582																																																	1	Substitution - coding silent(1)	kidney(1)											114.0	97.0	103.0					7																	139724549		2203	4300	6503	SO:0001819	synonymous_variant	64761			AL136766	CCDS5857.1	7q34	2014-01-28	2005-06-02	2005-06-02	ENSG00000059378	ENSG00000059378		"""Zinc fingers, CCCH-type domain containing"", ""Poly (ADP-ribose) polymerases"""	21919	protein-coding gene	gene with protein product		612481	"""zinc finger CCCH-type domain containing 1"""	ZC3HDC1		11230166, 12851707	Standard	NM_022750		Approved	FLJ22693, PARP-12, ZC3H1	uc003vvl.1	Q9H0J9	OTTHUMG00000157315	ENST00000263549.3:c.1917C>G	7.37:g.139724549G>C			Q9H610|Q9NP36|Q9NTI3	Silent	SNP	ENST00000263549.3	37	CCDS5857.1																																																																																				0.582	PARP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348413.1		NM_022750	
C6orf201	404220	broad.mit.edu;hgsc.bcm.edu	37	6	4125471	4125471	+	Intron	SNP	G	G	T			TCGA-BP-4998-01A-01D-1462-08	TCGA-BP-4998-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e646f930-967b-43a3-bd70-184e5c38efe5	10e99e0b-b3d0-4fbe-ab04-a579616e45a9	g.chr6:4125471G>T	ENST00000380175.4	+	4	1147				ECI2_ENST00000465828.1_Intron|ECI2_ENST00000380118.3_Intron|ECI2_ENST00000361538.2_Intron|C6orf201_ENST00000430835.2_3'UTR|C6orf201_ENST00000333388.5_Intron|ECI2_ENST00000413766.2_Intron|ECI2_ENST00000380125.2_Intron	NM_001085401.2	NP_001078870.1	Q7Z4U5	CF201_HUMAN	chromosome 6 open reading frame 201											central_nervous_system(1)|endometrium(3)|lung(2)	6	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				TTGCTTTCTAGGAGCTGACTT	0.522																																																	0													99.0	93.0	95.0					6																	4125471		2203	4300	6503	SO:0001627	intron_variant	0			BC047663	CCDS43419.1	6p25.2	2012-02-21			ENSG00000185689	ENSG00000185689			21620	protein-coding gene	gene with protein product							Standard	NM_001085401		Approved	dJ1013A10.5	uc003mwa.4	Q7Z4U5	OTTHUMG00000014160	ENST00000380175.4:c.382+3191G>T	6.37:g.4125471G>T			A6NLI6|Q6NXN5	RNA	SNP	ENST00000380175.4	37	CCDS43419.1																																																																																				0.522	C6orf201-001	KNOWN	NMD_exception|basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000314019.2		NM_001085401	
PGPEP1	54858	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	18466813	18466813	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4998-01A-01D-1462-08	TCGA-BP-4998-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e646f930-967b-43a3-bd70-184e5c38efe5	10e99e0b-b3d0-4fbe-ab04-a579616e45a9	g.chr19:18466813A>G	ENST00000269919.6	+	3	291	c.196A>G	c.(196-198)Agt>Ggt	p.S66G	PGPEP1_ENST00000595066.1_Missense_Mutation_p.S66G|PGPEP1_ENST00000252813.5_5'UTR|PGPEP1_ENST00000597431.2_Missense_Mutation_p.S66G|PGPEP1_ENST00000604499.2_Missense_Mutation_p.S66G	NM_017712.2	NP_060182.1	Q9NXJ5	PGPI_HUMAN	pyroglutamyl-peptidase I	66						cytosol (GO:0005829)	cysteine-type peptidase activity (GO:0008234)|pyroglutamyl-peptidase activity (GO:0016920)	p.S66G(1)									GGAGAAGCACAGTCCACAGGT	0.567																																																	1	Substitution - Missense(1)	kidney(1)											116.0	91.0	99.0					19																	18466813		2203	4300	6503	SO:0001583	missense	54858			AJ278828	CCDS12375.1, CCDS74314.1	19p13.11	2012-07-25				ENSG00000130517	3.4.19.3		13568	protein-coding gene	gene with protein product	"""pyroglutamyl aminopeptidase"""	610694					Standard	XM_006722783		Approved	PGP-I, Pcp, PGP, PGPI	uc002nis.1	Q9NXJ5		ENST00000269919.6:c.196A>G	19.37:g.18466813A>G	ENSP00000269919:p.Ser66Gly		A8K1Q3|Q8IVT1	Missense_Mutation	SNP	ENST00000269919.6	37	CCDS12375.1	.	.	.	.	.	.	.	.	.	.	A	12.99	2.102921	0.37145	.	.	ENSG00000130517	ENST00000269919	T	0.43294	0.95	5.36	5.36	0.76844	.	0.252011	0.47455	D	0.000232	T	0.27629	0.0679	N	0.12182	0.205	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.05517	-1.0880	10	0.48119	T	0.1	-35.7158	14.1527	0.65398	1.0:0.0:0.0:0.0	.	66	Q9NXJ5	PGPI_HUMAN	G	66	ENSP00000269919:S66G	ENSP00000269919:S66G	S	+	1	0	PGPEP1	18327813	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	2.671000	0.46842	2.037000	0.60232	0.402000	0.26972	AGT		0.567	PGPEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466327.3		NM_017712	
PHF3	23469	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	64416765	64416765	+	Splice_Site	SNP	A	A	G			TCGA-BP-4998-01A-01D-1462-08	TCGA-BP-4998-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e646f930-967b-43a3-bd70-184e5c38efe5	10e99e0b-b3d0-4fbe-ab04-a579616e45a9	g.chr6:64416765A>G	ENST00000262043.3	+	13	4050	c.3710A>G	c.(3709-3711)gAg>gGg	p.E1237G	PHF3_ENST00000393387.1_Splice_Site_p.E1237G			Q92576	PHF3_HUMAN	PHD finger protein 3	1237					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.E1237G(1)		breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			TACCTGACAGAGGTACTGTGA	0.373																																					GBM(135;136 1820 29512 34071 46235)												1	Substitution - Missense(1)	kidney(1)											111.0	106.0	108.0					6																	64416765		2203	4300	6503	SO:0001630	splice_region_variant	23469			AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.3711+1A>G	6.37:g.64416765A>G			A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	ENST00000262043.3	37	CCDS4966.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.46|19.46	3.830846|3.830846	0.71258|0.71258	.|.	.|.	ENSG00000118482|ENSG00000118482	ENST00000506783;ENST00000515594;ENST00000262043;ENST00000393387|ENST00000505138	T;T;T;T|.	0.50277|.	1.93;0.75;2.02;2.02|.	5.79|5.79	5.79|5.79	0.91817|0.91817	Spen paralogue and orthologue SPOC, C-terminal (1);|.	0.000000|.	0.40144|.	N|.	0.001168|.	T|T	0.62901|0.62901	0.2466|0.2466	L|L	0.58669|0.58669	1.825|1.825	0.80722|0.80722	D|D	1|1	D|.	0.67145|.	0.996|.	D|.	0.81914|.	0.995|.	T|T	0.62695|0.62695	-0.6800|-0.6800	10|5	0.72032|.	D|.	0.01|.	-18.1909|-18.1909	16.1304|16.1304	0.81428|0.81428	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1237|.	Q92576|.	PHF3_HUMAN|.	G|G	1051;506;1237;1237|26	ENSP00000424694:E1051G;ENSP00000425338:E506G;ENSP00000262043:E1237G;ENSP00000377048:E1237G|.	ENSP00000262043:E1237G|.	E|R	+|+	2|1	0|2	PHF3|PHF3	64474724|64474724	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.962000|0.962000	0.63368|0.63368	7.370000|7.370000	0.79589|0.79589	2.202000|2.202000	0.70862|0.70862	0.482000|0.482000	0.46254|0.46254	GAG|AGG		0.373	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			Missense_Mutation
PHF8	23133	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	54048718	54048718	+	Silent	SNP	T	T	C			TCGA-BP-4998-01A-01D-1462-08	TCGA-BP-4998-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e646f930-967b-43a3-bd70-184e5c38efe5	10e99e0b-b3d0-4fbe-ab04-a579616e45a9	g.chrX:54048718T>C	ENST00000357988.5	-	4	733	c.375A>G	c.(373-375)agA>agG	p.R125R	PHF8_ENST00000338154.6_Silent_p.R89R|PHF8_ENST00000338946.6_Silent_p.R89R|PHF8_ENST00000322659.8_Silent_p.R89R	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	125					brain development (GO:0007420)|G1/S transition of mitotic cell cycle (GO:0000082)|histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of chromatin silencing at rDNA (GO:0061188)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)	p.R89R(2)		endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						TCCGGAGCTCTCTGACGAACG	0.537																																																	2	Substitution - coding silent(2)	kidney(2)											133.0	113.0	120.0					X																	54048718		2203	4300	6503	SO:0001819	synonymous_variant	23133			AB029034	CCDS14355.1, CCDS55418.1, CCDS55419.1, CCDS55420.1	Xp11.22	2013-01-28			ENSG00000172943	ENSG00000172943		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	20672	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1F"""	300560				10470851, 20023638, 20644565	Standard	NM_015107		Approved	ZNF422, KIAA1111, JHDM1F	uc004dsu.3	Q9UPP1	OTTHUMG00000021622	ENST00000357988.5:c.375A>G	X.37:g.54048718T>C			B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	Silent	SNP	ENST00000357988.5	37	CCDS55420.1																																																																																				0.537	PHF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056784.2		NM_015107	
PODXL	5420	broad.mit.edu	37	7	131241030	131241035	+	In_Frame_Del	DEL	GGCGAC	GGCGAC	-	rs11277659|rs547816245|rs532078953	byFrequency	TCGA-BP-4998-01A-01D-1462-08	TCGA-BP-4998-11A-01D-1462-08	GGCGAC	GGCGAC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e646f930-967b-43a3-bd70-184e5c38efe5	10e99e0b-b3d0-4fbe-ab04-a579616e45a9	g.chr7:131241030_131241035delGGCGAC	ENST00000378555.3	-	1	331_336	c.84_89delGTCGCC	c.(82-90)ccgtcgccc>ccc	p.28_30PSP>P	PODXL_ENST00000541194.1_In_Frame_Del_p.28_30PSP>P|PODXL_ENST00000322985.9_In_Frame_Del_p.28_30PSP>P|PODXL_ENST00000537928.1_In_Frame_Del_p.28_30PSP>P|PODXL_ENST00000465001.1_Intron			O00592	PODXL_HUMAN	podocalyxin-like	28					cell adhesion (GO:0007155)|cell migration (GO:0016477)|epithelial tube formation (GO:0072175)|glomerular visceral epithelial cell development (GO:0072015)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-cell adhesion (GO:0022408)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|regulation of microvillus assembly (GO:0032534)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|slit diaphragm (GO:0036057)		p.P30_S31delPS(2)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					ATTCTGGGAGggcgacggcgacggcg	0.748																																																	2	Deletion - In frame(2)	prostate(2)																																								SO:0001651	inframe_deletion	5420				CCDS34755.1, CCDS47714.1	7q32-q33	2008-07-18			ENSG00000128567	ENSG00000128567			9171	protein-coding gene	gene with protein product		602632					Standard	NM_001018111		Approved	PCLP, Gp200, PC	uc003vqx.4	O00592	OTTHUMG00000154918	ENST00000378555.3:c.84_89delGTCGCC	7.37:g.131241036_131241041delGGCGAC	ENSP00000367817:p.Pro30_Ser31del		A6NHX8|Q52LZ7|Q53ER6	In_Frame_Del	DEL	ENST00000378555.3	37	CCDS34755.1																																																																																				0.748	PODXL-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337627.2		NM_001018111	
POM121L9P	29774	broad.mit.edu	37	22	24659734	24659734	+	RNA	SNP	T	T	C			TCGA-BP-4998-01A-01D-1462-08	TCGA-BP-4998-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e646f930-967b-43a3-bd70-184e5c38efe5	10e99e0b-b3d0-4fbe-ab04-a579616e45a9	g.chr22:24659734T>C	ENST00000414583.2	+	0	3259					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		CTCTCTCCTGTGGGAGGGGGG	0.632																																																	0																																												29774			AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24659734T>C				RNA	SNP	ENST00000414583.2	37																																																																																					0.632	POM121L9P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319991.1		NM_014549	
PPP1R3A	5506	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	113559039	113559039	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BP-4998-01A-01D-1462-08	TCGA-BP-4998-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e646f930-967b-43a3-bd70-184e5c38efe5	10e99e0b-b3d0-4fbe-ab04-a579616e45a9	g.chr7:113559039C>A	ENST00000284601.3	-	1	81	c.13G>T	c.(13-15)Gaa>Taa	p.E5*		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	5					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)		p.E5*(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CTAGGTACTTCAGAAGGCTCC	0.363																																																	1	Substitution - Nonsense(1)	kidney(1)											34.0	35.0	35.0					7																	113559039		2016	4202	6218	SO:0001587	stop_gained	5506			AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.13G>T	7.37:g.113559039C>A	ENSP00000284601:p.Glu5*		A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Nonsense_Mutation	SNP	ENST00000284601.3	37	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	C	38	6.664742	0.97747	.	.	ENSG00000154415	ENST00000284601	.	.	.	6.17	5.29	0.74685	.	0.111362	0.64402	D	0.000014	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.327	0.74172	0.0:0.9337:0.0:0.0663	.	.	.	.	X	5	.	ENSP00000284601:E5X	E	-	1	0	PPP1R3A	113346275	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.137000	0.58010	1.620000	0.50308	0.655000	0.94253	GAA		0.363	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1		NM_002711	
REM1	28954	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	30064360	30064360	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4998-01A-01D-1462-08	TCGA-BP-4998-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e646f930-967b-43a3-bd70-184e5c38efe5	10e99e0b-b3d0-4fbe-ab04-a579616e45a9	g.chr20:30064360T>G	ENST00000201979.2	+	2	405	c.112T>G	c.(112-114)Tcc>Gcc	p.S38A	DEFB124_ENST00000481595.1_Intron	NM_014012.4	NP_054731.2	O75628	REM1_HUMAN	RAS (RAD and GEM)-like GTP-binding 1	38					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)	p.S38A(1)		kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			CACAGTGCCTTCCACTCAATC	0.647																																																	1	Substitution - Missense(1)	kidney(1)											83.0	88.0	86.0					20																	30064360		2203	4300	6503	SO:0001583	missense	28954			AF152863	CCDS13181.1	20q11.21	2014-05-09	2004-04-14	2004-04-16	ENSG00000088320	ENSG00000088320			15922	protein-coding gene	gene with protein product	"""GTPase GES"""	610388	"""RAS (RAD and GEM)-like GTP-binding"""	REM		10831614, 14623965	Standard	NM_014012		Approved	GES	uc002wwa.3	O75628	OTTHUMG00000032168	ENST00000201979.2:c.112T>G	20.37:g.30064360T>G	ENSP00000201979:p.Ser38Ala		E1P5L1|Q5TZR7|Q5TZR8|Q9NP57	Missense_Mutation	SNP	ENST00000201979.2	37	CCDS13181.1	.	.	.	.	.	.	.	.	.	.	T	1.304	-0.603971	0.03717	.	.	ENSG00000088320	ENST00000201979	T	0.64991	-0.13	4.53	-1.29	0.09288	.	0.701573	0.12775	N	0.440167	T	0.34366	0.0895	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.20672	-1.0268	10	0.07325	T	0.83	.	3.4533	0.07506	0.1806:0.3671:0.0:0.4523	.	38	O75628	REM1_HUMAN	A	38	ENSP00000201979:S38A	ENSP00000201979:S38A	S	+	1	0	REM1	29528021	0.000000	0.05858	0.000000	0.03702	0.623000	0.37688	-0.294000	0.08309	-0.112000	0.11979	0.460000	0.39030	TCC		0.647	REM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078508.2		NM_014012	
RPLP0	6175	broad.mit.edu;hgsc.bcm.edu	37	12	120636946	120636946	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4998-01A-01D-1462-08	TCGA-BP-4998-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e646f930-967b-43a3-bd70-184e5c38efe5	10e99e0b-b3d0-4fbe-ab04-a579616e45a9	g.chr12:120636946A>C	ENST00000551150.1	-	3	608	c.293T>G	c.(292-294)aTc>aGc	p.I98S	PXN-AS1_ENST00000542314.1_RNA|RPLP0_ENST00000228306.4_Missense_Mutation_p.I98S|PXN-AS1_ENST00000535200.1_RNA|PXN-AS1_ENST00000542265.1_RNA|RPLP0_ENST00000552292.1_5'Flank|RPLP0_ENST00000546989.1_Missense_Mutation_p.I98S|PXN-AS1_ENST00000538804.1_RNA|PXN-AS1_ENST00000539446.1_RNA|RPLP0_ENST00000392514.4_Missense_Mutation_p.I98S|RPLP0_ENST00000313104.5_Missense_Mutation_p.I98S|RPLP0_ENST00000550296.1_5'UTR			P05388	RLA0_HUMAN	ribosomal protein, large, P0	98					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosome biogenesis (GO:0042254)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.I98S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CATGTCCCTGATCTCAGTGAG	0.473																																																	1	Substitution - Missense(1)	kidney(1)											98.0	95.0	96.0					12																	120636946		2203	4300	6503	SO:0001583	missense	6175			AB007187	CCDS9193.1	12q24.2	2011-07-29			ENSG00000089157	ENSG00000089157		"""L ribosomal proteins"""	10371	protein-coding gene	gene with protein product	"""acidic ribosomal phosphoprotein P0"""	180510				9582194	Standard	NM_053275		Approved	PRLP0, P0, L10E, RPP0, LP0	uc001txq.3	P05388	OTTHUMG00000169317	ENST00000551150.1:c.293T>G	12.37:g.120636946A>C	ENSP00000449328:p.Ile98Ser		Q3B7A4|Q9BVK4	Missense_Mutation	SNP	ENST00000551150.1	37	CCDS9193.1	.	.	.	.	.	.	.	.	.	.	A	28.5	4.926632	0.92319	.	.	ENSG00000089157	ENST00000392514;ENST00000551150;ENST00000313104;ENST00000546989;ENST00000228306;ENST00000546990;ENST00000547211;ENST00000550856;ENST00000547191;ENST00000550423;ENST00000551914	T;T;T;T;T;T;T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8	5.34	5.34	0.76211	.	0.159245	0.44285	U	0.000476	T	0.72708	0.3494	M	0.89095	3.005	0.48571	D	0.999672	D;D	0.69078	0.997;0.994	D;D	0.68483	0.957;0.958	T	0.79329	-0.1848	10	0.87932	D	0	.	15.3337	0.74234	1.0:0.0:0.0:0.0	.	98;98	Q3B7A4;P05388	.;RLA0_HUMAN	S	98;98;98;98;98;98;78;98;84;84;98	ENSP00000376299:I98S;ENSP00000449328:I98S;ENSP00000366471:I98S;ENSP00000449205:I98S;ENSP00000339027:I98S;ENSP00000447311:I98S;ENSP00000449854:I78S;ENSP00000448046:I98S;ENSP00000450121:I84S;ENSP00000449765:I84S;ENSP00000448223:I98S	ENSP00000339027:I98S	I	-	2	0	RPLP0	119121329	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.249000	0.95470	2.030000	0.59900	0.533000	0.62120	ATC		0.473	RPLP0-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403448.3		NM_053275	
RREB1	6239	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	7230362	7230362	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4998-01A-01D-1462-08	TCGA-BP-4998-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e646f930-967b-43a3-bd70-184e5c38efe5	10e99e0b-b3d0-4fbe-ab04-a579616e45a9	g.chr6:7230362A>T	ENST00000349384.6	+	10	2344	c.2030A>T	c.(2029-2031)gAc>gTc	p.D677V	RREB1_ENST00000379938.2_Missense_Mutation_p.D677V|RREB1_ENST00000379933.3_Missense_Mutation_p.D677V|RREB1_ENST00000334984.6_Missense_Mutation_p.D677V	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	677					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D677V(2)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				AACATCTGCGACTACATCGCC	0.637																																																	2	Substitution - Missense(2)	kidney(2)											53.0	49.0	50.0					6																	7230362		2203	4300	6503	SO:0001583	missense	6239			U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.2030A>T	6.37:g.7230362A>T	ENSP00000305560:p.Asp677Val		A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	ENST00000349384.6	37	CCDS34336.1	.	.	.	.	.	.	.	.	.	.	A	17.74	3.464308	0.63513	.	.	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984;ENST00000483150	T;T;T;T;T	0.16597	2.33;2.33;2.33;2.33;2.33	5.27	5.27	0.74061	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000004	T	0.29914	0.0748	L	0.58969	1.84	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.988	T	0.03981	-1.0987	10	0.87932	D	0	-65.0206	15.3726	0.74577	1.0:0.0:0.0:0.0	.	677;677;677	Q92766-3;Q92766;Q92766-2	.;RREB1_HUMAN;.	V	677	ENSP00000369265:D677V;ENSP00000369270:D677V;ENSP00000305560:D677V;ENSP00000335574:D677V;ENSP00000419511:D677V	ENSP00000335574:D677V	D	+	2	0	RREB1	7175361	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.572000	0.67411	2.209000	0.71365	0.533000	0.62120	GAC		0.637	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			
SLC12A6	9990	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	34544539	34544539	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4998-01A-01D-1462-08	TCGA-BP-4998-11A-01D-1462-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	e646f930-967b-43a3-bd70-184e5c38efe5	10e99e0b-b3d0-4fbe-ab04-a579616e45a9	g.chr15:34544539C>T	ENST00000354181.3	-	10	1657	c.1165G>A	c.(1165-1167)Gtt>Att	p.V389I	SLC12A6_ENST00000397707.2_Missense_Mutation_p.V374I|SLC12A6_ENST00000558589.1_Missense_Mutation_p.V380I|SLC12A6_ENST00000451844.2_Missense_Mutation_p.V201I|SLC12A6_ENST00000560164.1_Missense_Mutation_p.V201I|SLC12A6_ENST00000458406.2_Missense_Mutation_p.V330I|SLC12A6_ENST00000560611.1_Missense_Mutation_p.V389I|RP11-1084A12.2_ENST00000559867.1_RNA|SLC12A6_ENST00000558667.1_Missense_Mutation_p.V389I|SLC12A6_ENST00000397702.2_Missense_Mutation_p.V330I|SLC12A6_ENST00000290209.5_Missense_Mutation_p.V338I			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	389					angiogenesis (GO:0001525)|cellular hypotonic response (GO:0071476)|cellular hypotonic salinity response (GO:0071477)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|rubidium ion transport (GO:0035826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium ion transmembrane transporter activity (GO:0015079)|potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)|rubidium ion transmembrane transporter activity (GO:0035827)	p.V338I(1)|p.V380I(1)		central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	TTAGAGCAAACGTCAATGTGT	0.393																																																	2	Substitution - Missense(2)	kidney(2)											151.0	138.0	143.0					15																	34544539		2201	4298	6499	SO:0001583	missense	9990			AF108831	CCDS10036.1, CCDS42010.1, CCDS42011.1, CCDS42012.1, CCDS58352.1	15q13	2014-09-17	2013-07-18		ENSG00000140199	ENSG00000140199		"""Solute carriers"""	10914	protein-coding gene	gene with protein product		604878	"""agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)"""	KCC3, ACCPN		10187864, 10347194	Standard	NM_133647		Approved		uc001zhw.3	Q9UHW9	OTTHUMG00000129441	ENST00000354181.3:c.1165G>A	15.37:g.34544539C>T	ENSP00000346112:p.Val389Ile		A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Missense_Mutation	SNP	ENST00000354181.3	37	CCDS58352.1	.	.	.	.	.	.	.	.	.	.	C	6.288	0.421233	0.11928	.	.	ENSG00000140199	ENST00000290209;ENST00000397707;ENST00000354181;ENST00000397702;ENST00000458406;ENST00000451844	T;T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01;-0.01	5.36	-4.89	0.03103	.	1.295740	0.05093	N	0.485635	T	0.47248	0.1435	L	0.27053	0.805	0.09310	N	1	B;B;B;B	0.10296	0.002;0.001;0.003;0.001	B;B;B;B	0.13407	0.009;0.002;0.001;0.001	T	0.41197	-0.9522	10	0.12430	T	0.62	.	15.134	0.72549	0.0:0.647:0.0:0.353	.	374;389;338;201	Q9UHW9-3;Q9UHW9;A0AV76;B3KXX3	.;S12A6_HUMAN;.;.	I	338;374;380;330;330;201	ENSP00000290209:V338I;ENSP00000380819:V374I;ENSP00000380814:V330I;ENSP00000387725:V330I;ENSP00000390199:V201I	ENSP00000290209:V338I	V	-	1	0	SLC12A6	32331831	0.000000	0.05858	0.003000	0.11579	0.960000	0.62799	-1.566000	0.02148	-1.214000	0.02614	-0.982000	0.02568	GTT		0.393	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000417991.1		NM_005135	
SNX17	9784	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	27598749	27598749	+	Missense_Mutation	SNP	C	C	T	rs377585045		TCGA-BP-4998-01A-01D-1462-08	TCGA-BP-4998-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e646f930-967b-43a3-bd70-184e5c38efe5	10e99e0b-b3d0-4fbe-ab04-a579616e45a9	g.chr2:27598749C>T	ENST00000233575.2	+	11	1237	c.1015C>T	c.(1015-1017)Cgg>Tgg	p.R339W	SNX17_ENST00000542478.1_Missense_Mutation_p.R125W|SNX17_ENST00000543024.1_Missense_Mutation_p.R125W|ZNF513_ENST00000491924.1_5'Flank|SNX17_ENST00000537606.1_Missense_Mutation_p.R314W	NM_001267059.1|NM_001267061.1|NM_014748.3	NP_001253988.1|NP_001253990.1|NP_055563.1	Q15036	SNX17_HUMAN	sorting nexin 17	339	FERM-like.|PTB-like F3 module.				cholesterol catabolic process (GO:0006707)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|receptor-mediated endocytosis (GO:0006898)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)	low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol binding (GO:0035091)|protein C-terminus binding (GO:0008022)|receptor binding (GO:0005102)	p.R339W(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGCCCAGGCCGGGGCCGGGG	0.607																																																	1	Substitution - Missense(1)	kidney(1)						C	TRP/ARG	3,4403	6.2+/-15.9	0,3,2200	46.0	49.0	48.0		1015	5.9	1.0	2		48	0,8600		0,0,4300	no	missense	SNX17	NM_014748.2	101	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	possibly-damaging	339/471	27598749	3,13003	2203	4300	6503	SO:0001583	missense	9784			D31764	CCDS1750.1, CCDS58704.1	2p23-p22	2008-05-21			ENSG00000115234	ENSG00000115234		"""Sorting nexins"""	14979	protein-coding gene	gene with protein product		605963				12169628, 15769472	Standard	NM_014748		Approved	KIAA0064	uc002rkg.2	Q15036	OTTHUMG00000097781	ENST00000233575.2:c.1015C>T	2.37:g.27598749C>T	ENSP00000233575:p.Arg339Trp		B4DQM7|Q53HN7|Q6IAS3	Missense_Mutation	SNP	ENST00000233575.2	37	CCDS1750.1	.	.	.	.	.	.	.	.	.	.	C	13.95	2.391040	0.42410	6.81E-4	0.0	ENSG00000115234	ENST00000233575;ENST00000543024;ENST00000537606;ENST00000542478	T;T;T;T	0.32753	1.85;1.46;1.44;1.46	5.9	5.9	0.94986	.	0.474898	0.24238	N	0.040286	T	0.27798	0.0684	N	0.14661	0.345	0.37211	D	0.904818	P;P;D;P	0.63880	0.915;0.915;0.993;0.95	B;B;P;P	0.49226	0.329;0.425;0.539;0.603	T	0.17137	-1.0379	10	0.59425	D	0.04	-6.6117	15.258	0.73599	0.0:0.8592:0.1408:0.0	.	314;327;319;339	B4DQM7;B4DTB8;B4DQ37;Q15036	.;.;.;SNX17_HUMAN	W	339;125;314;125	ENSP00000233575:R339W;ENSP00000441779:R125W;ENSP00000439208:R314W;ENSP00000442567:R125W	ENSP00000233575:R339W	R	+	1	2	SNX17	27452253	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	3.857000	0.55972	2.786000	0.95864	0.561000	0.74099	CGG		0.607	SNX17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215024.1		NM_014748	
SLC4A10	57282	broad.mit.edu;hgsc.bcm.edu	37	2	162730485	162730485	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4998-01A-01D-1462-08	TCGA-BP-4998-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e646f930-967b-43a3-bd70-184e5c38efe5	10e99e0b-b3d0-4fbe-ab04-a579616e45a9	g.chr2:162730485A>C	ENST00000446997.1	+	8	1011	c.918A>C	c.(916-918)gaA>gaC	p.E306D	SLC4A10_ENST00000375514.5_Intron|SLC4A10_ENST00000421911.1_Missense_Mutation_p.E306D|SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000415876.2_Intron|SLC4A10_ENST00000535165.1_Missense_Mutation_p.E306D|SLC4A10_ENST00000272716.5_Intron	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	306					bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)	p.E306D(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	AAAGGCATGAAAAAGGACCTC	0.478																																																	1	Substitution - Missense(1)	kidney(1)											33.0	29.0	30.0					2																	162730485		876	1991	2867	SO:0001583	missense	57282				CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"""Solute carriers"""	13811	protein-coding gene	gene with protein product		605556	"""solute carrier family 4, sodium bicarbonate transporter-like, member 10"""			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.918A>C	2.37:g.162730485A>C	ENSP00000393066:p.Glu306Asp		B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Missense_Mutation	SNP	ENST00000446997.1	37	CCDS54411.1	.	.	.	.	.	.	.	.	.	.	A	10.38	1.334291	0.24253	.	.	ENSG00000144290	ENST00000535165;ENST00000446997;ENST00000421911;ENST00000415711	T;T;T	0.79454	-1.27;-1.27;-1.27	5.79	2.05	0.26809	Bicarbonate transporter, cytoplasmic (1);Phosphotransferase/anion transporter (1);	0.469748	0.21521	N	0.073215	T	0.55970	0.1954	N	0.14661	0.345	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.10450	0.005;0.001	T	0.29640	-1.0005	10	0.23891	T	0.37	.	5.5782	0.17235	0.6949:0.1498:0.1553:0.0	.	306;306	E7EW28;Q6U841	.;S4A10_HUMAN	D	306;306;306;305	ENSP00000437527:E306D;ENSP00000393066:E306D;ENSP00000404486:E306D	ENSP00000387716:E305D	E	+	3	2	SLC4A10	162438731	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.200000	0.32247	0.105000	0.17753	0.482000	0.46254	GAA		0.478	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333090.1		NM_022058	
SNX5	27131	broad.mit.edu;ucsc.edu	37	20	17930825	17930825	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4998-01A-01D-1462-08	TCGA-BP-4998-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e646f930-967b-43a3-bd70-184e5c38efe5	10e99e0b-b3d0-4fbe-ab04-a579616e45a9	g.chr20:17930825C>T	ENST00000377768.3	-	9	1054	c.742G>A	c.(742-744)Gca>Aca	p.A248T	SNX5_ENST00000483485.1_5'UTR|SNX5_ENST00000377759.4_Missense_Mutation_p.A248T	NM_152227.1	NP_689413.1	Q9Y5X3	SNX5_HUMAN	sorting nexin 5	248	BAR.				intracellular protein transport (GO:0006886)|pinocytosis (GO:0006907)	cytoplasmic vesicle (GO:0031410)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|extrinsic component of endosome membrane (GO:0031313)|macropinocytic cup (GO:0070685)	phosphatidylinositol binding (GO:0035091)	p.A248T(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	11						AAGCAGGCTGCGGTGTGGATA	0.448																																																	1	Substitution - Missense(1)	kidney(1)											98.0	89.0	92.0					20																	17930825		2203	4300	6503	SO:0001583	missense	27131			AF121855	CCDS13130.1	20p11	2008-05-22			ENSG00000089006	ENSG00000089006		"""Sorting nexins"""	14969	protein-coding gene	gene with protein product		605937				10600472, 17148574	Standard	NM_152227		Approved		uc002wqc.3	Q9Y5X3	OTTHUMG00000031953	ENST00000377768.3:c.742G>A	20.37:g.17930825C>T	ENSP00000366998:p.Ala248Thr		B7ZKN3|D3DW26|Q52LC4|Q7KZN0|Q9BWP0	Missense_Mutation	SNP	ENST00000377768.3	37	CCDS13130.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.527004	0.64860	.	.	ENSG00000089006	ENST00000377768;ENST00000377759;ENST00000431277;ENST00000419004	T;T;T;T	0.39406	1.08;1.08;1.08;1.87	5.74	4.69	0.59074	Vps5 C-terminal (1);	0.047598	0.85682	D	0.000000	T	0.36690	0.0976	L	0.46157	1.445	0.49687	D	0.999812	B;B	0.13145	0.007;0.002	B;B	0.16289	0.015;0.009	T	0.24261	-1.0165	10	0.72032	D	0.01	-2.3823	11.728	0.51720	0.3659:0.6341:0.0:0.0	.	269;248	B7Z476;Q9Y5X3	.;SNX5_HUMAN	T	248;248;211;213	ENSP00000366998:A248T;ENSP00000366988:A248T;ENSP00000404448:A211T;ENSP00000406731:A213T	ENSP00000366988:A248T	A	-	1	0	SNX5	17878825	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.340000	0.59328	2.873000	0.98535	0.561000	0.74099	GCA		0.448	SNX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078137.4			
SRRM2	23524	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	2817282	2817282	+	Silent	SNP	A	A	T	rs111703345		TCGA-BP-4998-01A-01D-1462-08	TCGA-BP-4998-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e646f930-967b-43a3-bd70-184e5c38efe5	10e99e0b-b3d0-4fbe-ab04-a579616e45a9	g.chr16:2817282A>T	ENST00000301740.8	+	11	7302	c.6753A>T	c.(6751-6753)ccA>ccT	p.P2251P	AC092117.2_ENST00000581119.1_RNA	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2251	Ala-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)	p.P2251P(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CTGCCATTCCAACAGCAGTGA	0.622																																																	1	Substitution - coding silent(1)	kidney(1)											63.0	66.0	65.0					16																	2817282		2198	4300	6498	SO:0001819	synonymous_variant	23524			AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.6753A>T	16.37:g.2817282A>T			A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Silent	SNP	ENST00000301740.8	37	CCDS32373.1																																																																																				0.622	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			
TDRD6	221400	broad.mit.edu;ucsc.edu	37	6	46657418	46657418	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4998-01A-01D-1462-08	TCGA-BP-4998-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e646f930-967b-43a3-bd70-184e5c38efe5	10e99e0b-b3d0-4fbe-ab04-a579616e45a9	g.chr6:46657418G>T	ENST00000316081.6	+	1	1553	c.1553G>T	c.(1552-1554)aGg>aTg	p.R518M	RP11-446F17.3_ENST00000422284.2_RNA|TDRD6_ENST00000544460.1_Missense_Mutation_p.R518M|RP11-446F17.3_ENST00000434329.2_RNA|RP11-446F17.3_ENST00000571590.1_RNA	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	518					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)		p.R518M(1)		NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			AAGCTGATGAGGAGAATGTGT	0.418																																																	1	Substitution - Missense(1)	kidney(1)											128.0	122.0	124.0					6																	46657418		2203	4300	6503	SO:0001583	missense	221400			AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.1553G>T	6.37:g.46657418G>T	ENSP00000346065:p.Arg518Met		B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	ENST00000316081.6	37	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	G	11.63	1.697019	0.30142	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.10763	2.84;2.84	5.88	1.97	0.26223	Maternal tudor protein (1);	0.758186	0.13349	N	0.394549	T	0.09862	0.0242	L	0.45581	1.43	0.09310	N	1	D;D	0.58970	0.98;0.984	P;P	0.62649	0.804;0.905	T	0.14282	-1.0478	10	0.48119	T	0.1	-11.4376	8.7561	0.34645	0.5691:0.0:0.4309:0.0	.	518;518	F5H5M3;O60522	.;TDRD6_HUMAN	M	518	ENSP00000443299:R518M;ENSP00000346065:R518M	ENSP00000346065:R518M	R	+	2	0	TDRD6	46765377	0.113000	0.22115	0.011000	0.14972	0.799000	0.45148	0.711000	0.25764	0.066000	0.16515	0.655000	0.94253	AGG		0.418	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1		XM_166443	
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179598118	179598118	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BP-4998-01A-01D-1462-08	TCGA-BP-4998-11A-01D-1462-08	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	e646f930-967b-43a3-bd70-184e5c38efe5	10e99e0b-b3d0-4fbe-ab04-a579616e45a9	g.chr2:179598118A>T	ENST00000591111.1	-	52	15175	c.14951T>A	c.(14950-14952)tTg>tAg	p.L4984*	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.L5301*|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.L4057*|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	12363	Ig-like 30.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.L4057*(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTGGCGACCAAGGGTCTCCC	0.478																																																	1	Substitution - Nonsense(1)	kidney(1)											122.0	120.0	121.0					2																	179598118		1866	4117	5983	SO:0001587	stop_gained	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.14951T>A	2.37:g.179598118A>T	ENSP00000465570:p.Leu4984*		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	A	55	23.886511	0.99957	.	.	ENSG00000155657	ENST00000342992	.	.	.	5.86	5.86	0.93980	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.254	0.82501	1.0:0.0:0.0:0.0	.	.	.	.	X	4057	.	ENSP00000343764:L4057X	L	-	2	0	TTN	179306363	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.335000	0.96500	2.232000	0.73038	0.533000	0.62120	TTG		0.478	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378	
LOC100288069	100288069	broad.mit.edu	37	1	700532	700532	+	lincRNA	DEL	T	T	-			TCGA-BP-4998-01A-01D-1462-08	TCGA-BP-4998-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e646f930-967b-43a3-bd70-184e5c38efe5	10e99e0b-b3d0-4fbe-ab04-a579616e45a9	g.chr1:700532delT	ENST00000428504.1	-	0	1021				RP11-206L10.5_ENST00000417659.1_lincRNA	NR_033908.1																						aaaaaaaaaaTTCCTTTGGGA	0.453																																																	0																																												0																															1.37:g.700532delT				RNA	DEL	ENST00000428504.1	37																																																																																					0.453	RP11-206L10.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000006889.1			
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10188315	10188315	+	Missense_Mutation	SNP	T	T	C	rs193922611		TCGA-BP-4998-01A-01D-1462-08	TCGA-BP-4998-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e646f930-967b-43a3-bd70-184e5c38efe5	10e99e0b-b3d0-4fbe-ab04-a579616e45a9	g.chr3:10188315T>C	ENST00000256474.2	+	2	1298	c.458T>C	c.(457-459)cTg>cCg	p.L153P	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Intron	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	153	Involved in binding to CCT complex.				cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.L153P(5)|p.?(2)|p.L153fs*4(1)|p.?fs(1)|p.P154fs*2(1)|p.G144fs*19(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		AATATCACACTGCCAGGTACT	0.403		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																														yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"""E, M, O"""	11	Substitution - Missense(5)|Deletion - Frameshift(2)|Insertion - Frameshift(2)|Unknown(2)	kidney(11)											182.0	172.0	175.0					3																	10188315		2203	4300	6503	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.458T>C	3.37:g.10188315T>C	ENSP00000256474:p.Leu153Pro		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	T	20.0	3.930995	0.73327	.	.	ENSG00000134086	ENST00000256474;ENST00000450183	D	0.99848	-7.14	4.79	4.79	0.61399	von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);von Hippel-Lindau disease tumor suppressor, alpha domain (1);	0.000000	0.64402	D	0.000001	D	0.99715	0.9890	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97136	0.9821	10	0.72032	D	0.01	0.5194	12.5822	0.56397	0.0:0.0:0.0:1.0	.	153	P40337	VHL_HUMAN	P	153;71	ENSP00000256474:L153P	ENSP00000256474:L153P	L	+	2	0	VHL	10163315	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	5.968000	0.70413	1.928000	0.55862	0.460000	0.39030	CTG		0.403	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	
WNT10A	80326	hgsc.bcm.edu	37	2	219746998	219746998	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4998-01A-01D-1462-08	TCGA-BP-4998-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e646f930-967b-43a3-bd70-184e5c38efe5	10e99e0b-b3d0-4fbe-ab04-a579616e45a9	g.chr2:219746998C>T	ENST00000258411.3	+	2	862	c.229C>T	c.(229-231)Cgt>Tgt	p.R77C		NM_025216.2	NP_079492.2	Q9GZT5	WN10A_HUMAN	wingless-type MMTV integration site family, member 10A	77					cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|epidermis morphogenesis (GO:0048730)|hair follicle development (GO:0001942)|hair follicle morphogenesis (GO:0031069)|neural crest cell differentiation (GO:0014033)|neuron differentiation (GO:0030182)|odontogenesis (GO:0042476)|positive regulation of gene expression (GO:0010628)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|sebaceous gland development (GO:0048733)|skin development (GO:0043588)|tongue development (GO:0043586)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)	p.R77C(1)		breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2)	12		Renal(207;0.0474)		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGTGTGTGTGCGTCACCCTGA	0.612																																																	1	Substitution - Missense(1)	lung(1)											94.0	87.0	90.0					2																	219746998		2203	4300	6503	SO:0001583	missense	80326			AB059569	CCDS2426.1	2q35	2008-05-23			ENSG00000135925	ENSG00000135925		"""Wingless-type MMTV integration sites"""	13829	protein-coding gene	gene with protein product		606268				11350055, 17847007	Standard	NM_025216		Approved		uc002vjd.1	Q9GZT5	OTTHUMG00000133085	ENST00000258411.3:c.229C>T	2.37:g.219746998C>T	ENSP00000258411:p.Arg77Cys		Q53S44|Q96TA7|Q9H7S8	Missense_Mutation	SNP	ENST00000258411.3	37	CCDS2426.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.3|20.3	3.973432|3.973432	0.74246|0.74246	.|.	.|.	ENSG00000135925|ENSG00000135925	ENST00000458582|ENST00000258411	.|T	.|0.77098	.|-1.07	4.82|4.82	4.82|4.82	0.62117|0.62117	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.90645|0.90645	0.7066|0.7066	M|M	0.92412|0.92412	3.305|3.305	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.77557	.|0.99	D|D	0.93041|0.93041	0.6457|0.6457	5|10	.|0.72032	.|D	.|0.01	.|.	16.8977|16.8977	0.86105|0.86105	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|77	.|Q9GZT5	.|WN10A_HUMAN	V|C	39|77	.|ENSP00000258411:R77C	.|ENSP00000258411:R77C	A|R	+|+	2|1	0|0	WNT10A|WNT10A	219455242|219455242	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.968000|0.968000	0.65278|0.65278	3.423000|3.423000	0.52756|0.52756	2.230000|2.230000	0.72887|0.72887	0.462000|0.462000	0.41574|0.41574	GCG|CGT		0.612	WNT10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256730.2		NM_025216	
