#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_AAChange	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_Codon	i_COSMIC_Gene	i_COSMIC_Gene_Freq	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ChromChange	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Drug_Target	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_Exon	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_Genome_Plus_Minus_10_Bp	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_NTotCov	i_NVarCov	i_ORegAnno_bin	i_TTotCov	i_TVarCov	i_TranscriptID	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_dbSNPPopFreq	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
A2M	2	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	9258835	9258835	+	Silent	SNP	C	C	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr12:9258835C>T	ENST00000318602.7	-	10	1408	c.1101G>A	c.(1099-1101)ggG>ggA	p.G367G		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	367					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	ACTCCACCTGCCCAAAGAAGG	0.408																																					p.G367G		.											A2M,brain,glioma,-2	A2M	515	0			c.G1101A						.						134.0	126.0	128.0					12																	9258835		1880	4107	5987	SO:0001819	synonymous_variant	2	exon10			CACCTGCCCAAAG	BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.1101G>A	12.37:g.9258835C>T		82.0	0.0		107.0	12.0	NM_000014	Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Silent	SNP	ENST00000318602.7	37	CCDS44827.1																																																																																			.		0.408	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014	
ABCA4	24	broad.mit.edu;mdanderson.org	37	1	94495183	94495183	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	A	A	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr1:94495183A>T	ENST00000370225.3	-	30	4443	c.4357T>A	c.(4357-4359)Tac>Aac	p.Y1453N		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1453					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CCACAGGGGTACTCCCTCATG	0.488																																					p.Y1453N		.											.	ABCA4	162	0			c.T4357A						.						63.0	51.0	55.0					1																	94495183		2203	4300	6503	SO:0001583	missense	24	exon30			AGGGGTACTCCCT	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.4357T>A	1.37:g.94495183A>T	ENSP00000359245:p.Tyr1453Asn	56.0	0.0		30.0	5.0	NM_000350	O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	37	CCDS747.1	.	.	.	.	.	.	.	.	.	.	A	9.289	1.050010	0.19827	.	.	ENSG00000198691	ENST00000546054;ENST00000370225	D	0.94417	-3.42	5.24	4.09	0.47781	.	0.954716	0.08820	N	0.888965	D	0.90167	0.6927	L	0.54323	1.7	0.80722	D	1	P	0.46656	0.882	B	0.43575	0.424	D	0.84828	0.0800	10	0.35671	T	0.21	.	12.2833	0.54776	0.8581:0.1419:0.0:0.0	.	1453	P78363	ABCA4_HUMAN	N	245;1453	ENSP00000359245:Y1453N	ENSP00000359245:Y1453N	Y	-	1	0	ABCA4	94267771	1.000000	0.71417	1.000000	0.80357	0.238000	0.25445	4.017000	0.57167	0.988000	0.38734	0.529000	0.55759	TAC	.		0.488	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350	
ABCA9	10350	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	67031425	67031425	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr17:67031425G>A	ENST00000340001.4	-	8	1301	c.1090C>T	c.(1090-1092)Ctt>Ttt	p.L364F	ABCA9_ENST00000453985.2_Missense_Mutation_p.L364F|ABCA9_ENST00000370732.2_Missense_Mutation_p.L364F	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	364					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					GGGCTAAGAAGACACAAAGTC	0.438																																					p.L364F		.											.	ABCA9	95	0			c.C1090T						.						125.0	111.0	116.0					17																	67031425		2203	4300	6503	SO:0001583	missense	10350	exon8			TAAGAAGACACAA	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.1090C>T	17.37:g.67031425G>A	ENSP00000342216:p.Leu364Phe	286.0	1.0		315.0	38.0	NM_080283	Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	37	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	G	8.983	0.975931	0.18736	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	D;D	0.84223	-1.82;-1.82	4.24	-0.304	0.12788	.	0.757107	0.11185	N	0.590576	T	0.71350	0.3329	N	0.25992	0.78	0.28753	N	0.901332	B;B	0.14438	0.01;0.003	B;B	0.20577	0.024;0.03	T	0.58719	-0.7587	10	0.42905	T	0.14	.	1.7918	0.03053	0.1803:0.2972:0.3703:0.1521	.	364;364	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	F	364;347;364;359	ENSP00000342216:L364F;ENSP00000359767:L364F	ENSP00000342216:L364F	L	-	1	0	ABCA9	64543020	0.998000	0.40836	0.894000	0.35097	0.480000	0.33159	1.312000	0.33574	-0.083000	0.12618	0.650000	0.86243	CTT	.		0.438	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386	
ABCC8	6833	broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	17449458	17449458	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr11:17449458T>A	ENST00000389817.3	-	15	2140	c.2072A>T	c.(2071-2073)gAt>gTt	p.D691V	ABCC8_ENST00000302539.4_Missense_Mutation_p.D691V|ABCC8_ENST00000528202.1_5'Flank			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	691	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	GGGGATTCCATCTGGGGTCCA	0.562																																					p.D691V		.											.	ABCC8	91	0			c.A2072T						.						169.0	132.0	145.0					11																	17449458		2200	4293	6493	SO:0001583	missense	6833	exon15			ATTCCATCTGGGG	L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.2072A>T	11.37:g.17449458T>A	ENSP00000374467:p.Asp691Val	144.0	1.0		148.0	19.0	NM_000352	A6NMX8|E3UYX6|O75948|Q16583	Missense_Mutation	SNP	ENST00000389817.3	37	CCDS31437.1	.	.	.	.	.	.	.	.	.	.	T	15.84	2.952728	0.53293	.	.	ENSG00000006071	ENST00000389817;ENST00000302539;ENST00000379493	D;D	0.91011	-2.77;-2.77	5.3	4.1	0.47936	ABC transporter-like (1);	0.175176	0.49305	D	0.000158	D	0.87920	0.6299	M	0.66297	2.02	0.80722	D	1	B	0.30793	0.295	B	0.27887	0.084	D	0.87747	0.2589	10	0.72032	D	0.01	.	10.2483	0.43354	0.1483:0.0:0.0:0.8517	.	691	Q09428	ABCC8_HUMAN	V	691;691;695	ENSP00000374467:D691V;ENSP00000303960:D691V	ENSP00000303960:D691V	D	-	2	0	ABCC8	17406034	0.997000	0.39634	0.969000	0.41365	0.931000	0.56810	2.840000	0.48215	2.002000	0.58637	0.459000	0.35465	GAT	.		0.562	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352	
ACBD5	91452	broad.mit.edu;ucsc.edu;mdanderson.org	37	10	27486370	27486370	+	Splice_Site	SNP	T	T	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr10:27486370T>A	ENST00000375888.1	-	13	1658	c.1594A>T	c.(1594-1596)Aaa>Taa	p.K532*	ACBD5_ENST00000375905.4_Splice_Site_p.K488*|ACBD5_ENST00000375901.1_Splice_Site_p.K414*|ACBD5_ENST00000396271.3_Splice_Site_p.K523*|ACBD5_ENST00000375897.3_Splice_Site_p.K346*			Q5T8D3	ACBD5_HUMAN	acyl-CoA binding domain containing 5	532					peroxisome degradation (GO:0030242)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisome (GO:0005777)	fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289)			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						CAGTTCAGTTTTCTTTAAAAA	0.303																																					p.K523X		.											.	ACBD5	90	0			c.A1567T						.						72.0	65.0	67.0					10																	27486370		2203	4299	6502	SO:0001630	splice_region_variant	91452	exon13			TCAGTTTTCTTTA	AF505653	CCDS7154.1, CCDS44368.1, CCDS73079.1	10p12.1	2010-04-30	2010-04-30		ENSG00000107897	ENSG00000107897			23338	protein-coding gene	gene with protein product			"""acyl-Coenzyme A binding domain containing 5"""			12056414	Standard	NR_024150		Approved	DKFZp434A2417, KIAA1996	uc010qdp.2	Q5T8D3	OTTHUMG00000017854	ENST00000375888.1:c.1593-1A>T	10.37:g.27486370T>A		178.0	1.0		263.0	105.0	NM_145698	B3KQ56|D3DRW0|Q5T8D4|Q5T8E1|Q5T8E2|Q86UV1|Q8N6E3|Q9UFB5	Nonsense_Mutation	SNP	ENST00000375888.1	37		.	.	.	.	.	.	.	.	.	.	T	35	5.548475	0.96488	.	.	ENSG00000107897	ENST00000375889;ENST00000396271;ENST00000375905;ENST00000375901;ENST00000375897;ENST00000375888	.	.	.	5.86	5.86	0.93980	.	0.142939	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.6447	13.6239	0.62153	0.0:0.0:0.0:1.0	.	.	.	.	X	529;523;488;414;346;532	.	ENSP00000365049:K532X	K	-	1	0	ACBD5	27526376	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	4.193000	0.58385	2.237000	0.73441	0.528000	0.53228	AAA	.		0.303	ACBD5-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000047314.1	NM_145698	Nonsense_Mutation
ACE	1636	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	61573828	61573828	+	Silent	SNP	C	C	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr17:61573828C>T	ENST00000290866.4	+	23	3478	c.3454C>T	c.(3454-3456)Ctg>Ttg	p.L1152L	ACE_ENST00000421982.2_Intron|ACE_ENST00000577647.1_Silent_p.L578L|ACE_ENST00000413513.3_Intron|ACE_ENST00000490216.2_Silent_p.L578L|ACE_ENST00000428043.1_Intron|ACE_ENST00000290863.6_Silent_p.L578L	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	1152	Peptidase M2 2.				angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CACGGGCCCCCTGCACAAGTG	0.642																																					p.L1152L		.											.	ACE	94	0			c.C3454T						.						69.0	67.0	68.0					17																	61573828		2203	4300	6503	SO:0001819	synonymous_variant	1636	exon23			GGCCCCCTGCACA	J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"""CD molecules"""	2707	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	106180	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"""	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.3454C>T	17.37:g.61573828C>T		339.0	1.0		335.0	198.0	NM_000789	B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Silent	SNP	ENST00000290866.4	37	CCDS11637.1																																																																																			.		0.642	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337675.2		
ACTR10	55860	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	58690343	58690343	+	Missense_Mutation	SNP	G	G	A	rs372667907		TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr14:58690343G>A	ENST00000254286.4	+	9	718	c.638G>A	c.(637-639)cGt>cAt	p.R213H		NM_018477.2	NP_060947.1	Q9NZ32	ARP10_HUMAN	actin-related protein 10 homolog (S. cerevisiae)	213					microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|dynactin complex (GO:0005869)				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	13						CTTAAAGCGCGTACTTGCTTT	0.333																																					p.R213H		.											.	ACTR10	90	0			c.G638A						.	G	HIS/ARG	0,4404		0,0,2202	77.0	77.0	77.0		638	5.7	1.0	14		77	2,8598	2.2+/-6.3	0,2,4298	no	missense	ACTR10	NM_018477.2	29	0,2,6500	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	213/418	58690343	2,13002	2202	4300	6502	SO:0001583	missense	55860	exon9			AAGCGCGTACTTG	AF220190	CCDS32090.1	14q23.1	2014-08-08			ENSG00000131966	ENSG00000131966			17372	protein-coding gene	gene with protein product						12857853	Standard	NM_018477		Approved	HARP11, ACTR11, Arp11	uc001xdf.3	Q9NZ32	OTTHUMG00000171049	ENST00000254286.4:c.638G>A	14.37:g.58690343G>A	ENSP00000254286:p.Arg213His	65.0	0.0		65.0	20.0	NM_018477	Q9H9Y5|Q9NWY2	Missense_Mutation	SNP	ENST00000254286.4	37	CCDS32090.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.034221	0.75617	0.0	2.33E-4	ENSG00000131966	ENST00000543474;ENST00000254286	D	0.94650	-3.48	5.74	5.74	0.90152	.	0.105394	0.64402	D	0.000004	D	0.97219	0.9091	M	0.86864	2.845	0.80722	D	1	D;D	0.69078	0.995;0.997	P;P	0.59012	0.791;0.85	D	0.97628	1.0140	10	0.87932	D	0	-26.2586	18.9079	0.92471	0.0:0.0:1.0:0.0	.	213;213	Q53H79;Q9NZ32	.;ARP10_HUMAN	H	213	ENSP00000254286:R213H	ENSP00000254286:R213H	R	+	2	0	ACTR10	57760096	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	8.926000	0.92839	2.702000	0.92279	0.655000	0.94253	CGT	.		0.333	ACTR10-002	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411405.1		
ADAMTS18	170692	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	77398168	77398168	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr16:77398168T>C	ENST00000282849.5	-	5	1307	c.889A>G	c.(889-891)Acc>Gcc	p.T297A		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	297	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						ACCACGAGGGTTTCCACATTG	0.493																																					p.T297A		.											.	ADAMTS18	1036	0			c.A889G						.						132.0	120.0	124.0					16																	77398168		2198	4300	6498	SO:0001583	missense	170692	exon5			CGAGGGTTTCCAC	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.889A>G	16.37:g.77398168T>C	ENSP00000282849:p.Thr297Ala	222.0	0.0		218.0	51.0	NM_199355	Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	ENST00000282849.5	37	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	T	18.69	3.678734	0.68042	.	.	ENSG00000140873	ENST00000282849	T	0.62639	0.01	5.17	5.17	0.71159	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	T	0.71736	0.3375	L	0.41710	1.295	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.74624	-0.3603	10	0.72032	D	0.01	.	14.3522	0.66711	0.0:0.0:0.0:1.0	.	297	Q8TE60	ATS18_HUMAN	A	297	ENSP00000282849:T297A	ENSP00000282849:T297A	T	-	1	0	ADAMTS18	75955669	1.000000	0.71417	0.805000	0.32314	0.301000	0.27625	7.477000	0.81069	2.170000	0.68504	0.482000	0.46254	ACC	.		0.493	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1		
ADAMTS9	56999	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	64640083	64640083	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr3:64640083C>T	ENST00000498707.1	-	8	1604	c.1262G>A	c.(1261-1263)aGt>aAt	p.S421N	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.S393N|ADAMTS9_ENST00000459780.1_Missense_Mutation_p.S421N	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	421	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		ACTATCTTCACTAATAGAACA	0.398																																					p.S421N		.											.	ADAMTS9	230	0			c.G1262A						.						155.0	166.0	162.0					3																	64640083		2203	4300	6503	SO:0001583	missense	56999	exon8			TCTTCACTAATAG	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.1262G>A	3.37:g.64640083C>T	ENSP00000418735:p.Ser421Asn	192.0	0.0		176.0	31.0	NM_182920	A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	ENST00000498707.1	37	CCDS2903.1	.	.	.	.	.	.	.	.	.	.	C	12.35	1.911770	0.33721	.	.	ENSG00000163638	ENST00000295903;ENST00000498707;ENST00000459780	D;D;D	0.86164	-2.08;-2.08;-2.08	5.66	4.78	0.61160	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.105461	0.64402	D	0.000009	T	0.76227	0.3958	N	0.02960	-0.455	0.44736	D	0.997738	P;B;B;P	0.39737	0.685;0.124;0.423;0.549	P;B;B;B	0.45406	0.479;0.105;0.126;0.329	T	0.74740	-0.3563	10	0.10636	T	0.68	.	16.7235	0.85416	0.0:0.8706:0.1294:0.0	.	393;421;421;421	B7ZVX9;Q9P2N4-2;Q9P2N4-1;Q9P2N4	.;.;.;ATS9_HUMAN	N	393;421;421	ENSP00000295903:S393N;ENSP00000418735:S421N;ENSP00000419217:S421N	ENSP00000295903:S393N	S	-	2	0	ADAMTS9	64615123	1.000000	0.71417	0.962000	0.40283	0.755000	0.42902	4.906000	0.63293	1.384000	0.46424	-0.165000	0.13383	AGT	.		0.398	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1		
ADCY2	108	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	7743819	7743819	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr5:7743819T>C	ENST00000338316.4	+	15	1999	c.1910T>C	c.(1909-1911)cTc>cCc	p.L637P	ADCY2_ENST00000537121.1_Missense_Mutation_p.L457P|RP11-711G10.1_ENST00000514105.2_RNA	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	637					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GCTGCGTTTCTCTTGCTGGCC	0.483																																					p.L637P		.											.	ADCY2	97	0			c.T1910C						.						373.0	332.0	346.0					5																	7743819		2203	4300	6503	SO:0001583	missense	108	exon15			CGTTTCTCTTGCT	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.1910T>C	5.37:g.7743819T>C	ENSP00000342952:p.Leu637Pro	260.0	0.0		250.0	47.0	NM_020546	B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	T	9.737	1.163866	0.21538	.	.	ENSG00000078295	ENST00000338316;ENST00000541993;ENST00000537121	T;D	0.83419	-1.24;-1.72	5.48	5.48	0.80851	.	0.064498	0.64402	D	0.000011	D	0.86167	0.5868	M	0.71581	2.175	0.58432	D	0.999999	P;B	0.45474	0.859;0.003	P;B	0.49708	0.62;0.006	D	0.87327	0.2322	10	0.59425	D	0.04	.	13.3916	0.60827	0.0:0.0:0.0:1.0	.	457;637	B7Z2C1;Q08462	.;ADCY2_HUMAN	P	637;470;457	ENSP00000342952:L637P;ENSP00000444803:L457P	ENSP00000342952:L637P	L	+	2	0	ADCY2	7796819	0.999000	0.42202	0.298000	0.25002	0.266000	0.26442	5.187000	0.65087	2.213000	0.71641	0.454000	0.30748	CTC	.		0.483	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546	
ADORA2B	136	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	15878262	15878262	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr17:15878262A>G	ENST00000304222.2	+	2	937	c.605A>G	c.(604-606)tAc>tGc	p.Y202C	ZSWIM7_ENST00000399280.2_5'Flank	NM_000676.2	NP_000667.1	P29275	AA2BR_HUMAN	adenosine A2b receptor	202					activation of adenylate cyclase activity (GO:0007190)|activation of MAPK activity (GO:0000187)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cellular defense response (GO:0006968)|cellular response to extracellular stimulus (GO:0031668)|excretion (GO:0007588)|G-protein coupled receptor signaling pathway (GO:0007186)|JNK cascade (GO:0007254)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of chemokine production (GO:0032722)|positive regulation of chronic inflammatory response to non-antigenic stimulus (GO:0002882)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation vascular endothelial growth factor production (GO:0010575)|relaxation of vascular smooth muscle (GO:0060087)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled adenosine receptor activity (GO:0001609)			breast(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)	9				UCEC - Uterine corpus endometrioid carcinoma (92;0.0855)	Adenosine(DB00640)|Defibrotide(DB04932)|Enprofylline(DB00824)|Theophylline(DB00277)	CTGGTGATCTACATTAAGATC	0.512																																					p.Y202C		.											.	ADORA2B	228	0			c.A605G						.						115.0	103.0	107.0					17																	15878262		2203	4300	6503	SO:0001583	missense	136	exon2			TGATCTACATTAA	M97759	CCDS11173.1	17p12	2012-08-08			ENSG00000170425	ENSG00000170425		"""GPCR / Class A : Adenosine receptors"""	264	protein-coding gene	gene with protein product		600446				7558011	Standard	NM_000676		Approved		uc002gpd.1	P29275	OTTHUMG00000059140	ENST00000304222.2:c.605A>G	17.37:g.15878262A>G	ENSP00000304501:p.Tyr202Cys	189.0	1.0		165.0	102.0	NM_000676		Missense_Mutation	SNP	ENST00000304222.2	37	CCDS11173.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.106533	0.77096	.	.	ENSG00000170425	ENST00000304222	T	0.60548	0.18	5.59	5.59	0.84812	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.83385	0.5243	H	0.96518	3.835	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88748	0.3248	10	0.87932	D	0	-15.0911	14.9373	0.70967	1.0:0.0:0.0:0.0	.	202	P29275	AA2BR_HUMAN	C	202	ENSP00000304501:Y202C	ENSP00000304501:Y202C	Y	+	2	0	ADORA2B	15818987	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.339000	0.96797	2.128000	0.65567	0.460000	0.39030	TAC	.		0.512	ADORA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131032.1		
AFF3	3899	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	100194857	100194857	+	Silent	SNP	C	C	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr2:100194857C>T	ENST00000409236.2	-	16	2962	c.2850G>A	c.(2848-2850)acG>acA	p.T950T	AFF3_ENST00000356421.2_Silent_p.T975T|AFF3_ENST00000317233.4_Silent_p.T950T|AFF3_ENST00000409579.1_Silent_p.T975T			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	950					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						ACCACGGCTTCGTCTGCGGCC	0.488																																					p.T975T		.											.	AFF3	230	0			c.G2925A						.						131.0	137.0	135.0					2																	100194857		2203	4300	6503	SO:0001819	synonymous_variant	3899	exon17			CGGCTTCGTCTGC	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.2850G>A	2.37:g.100194857C>T		135.0	0.0		204.0	66.0	NM_001025108	B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Silent	SNP	ENST00000409236.2	37	CCDS42723.1																																																																																			.		0.488	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285	
AHNAK2	113146	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	105414859	105414859	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr14:105414859T>C	ENST00000333244.5	-	7	7048	c.6929A>G	c.(6928-6930)gAc>gGc	p.D2310G	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2310						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGCAGTCACGTCCTTGTCGGC	0.607																																					p.D2310G		.											.	AHNAK2	47	0			c.A6929G						.						199.0	215.0	210.0					14																	105414859		2036	4201	6237	SO:0001583	missense	113146	exon7			GTCACGTCCTTGT	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.6929A>G	14.37:g.105414859T>C	ENSP00000353114:p.Asp2310Gly	159.0	0.0		122.0	28.0	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	N	11.15	1.553352	0.27739	.	.	ENSG00000185567	ENST00000333244	T	0.01279	5.06	3.54	1.12	0.20585	.	.	.	.	.	T	0.02047	0.0064	M	0.71871	2.18	0.09310	N	1	B	0.13594	0.008	B	0.11329	0.006	T	0.45585	-0.9251	9	0.20046	T	0.44	.	6.1488	0.20301	0.0:0.2236:0.0:0.7764	.	2310	Q8IVF2	AHNK2_HUMAN	G	2310	ENSP00000353114:D2310G	ENSP00000353114:D2310G	D	-	2	0	AHNAK2	104485904	0.013000	0.17824	0.067000	0.19924	0.005000	0.04900	1.221000	0.32503	0.255000	0.21593	-0.760000	0.03462	GAC	.		0.607	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420	
AHNAK	79026	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	62290481	62290481	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr11:62290481T>C	ENST00000378024.4	-	5	11682	c.11408A>G	c.(11407-11409)aAg>aGg	p.K3803R	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3803					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTTGGGCATCTTCAGGTGCCA	0.522																																					p.K3803R		.											.	AHNAK	109	0			c.A11408G						.						255.0	262.0	260.0					11																	62290481		2202	4299	6501	SO:0001583	missense	79026	exon5			GGCATCTTCAGGT	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.11408A>G	11.37:g.62290481T>C	ENSP00000367263:p.Lys3803Arg	140.0	0.0		209.0	41.0	NM_001620	A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	-	12.17	1.856915	0.32791	.	.	ENSG00000124942	ENST00000378024	T	0.01538	4.79	4.61	3.48	0.39840	.	0.000000	0.42964	D	0.000635	T	0.06005	0.0156	H	0.95539	3.685	0.36755	D	0.882988	B	0.19073	0.033	B	0.19946	0.027	T	0.01472	-1.1346	10	0.35671	T	0.21	.	9.8977	0.41329	0.0:0.0829:0.0:0.9171	.	3803	Q09666	AHNK_HUMAN	R	3803	ENSP00000367263:K3803R	ENSP00000367263:K3803R	K	-	2	0	AHNAK	62047057	0.970000	0.33590	1.000000	0.80357	0.979000	0.70002	1.794000	0.38774	0.743000	0.32719	0.444000	0.29173	AAG	.		0.522	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060	
AIM1	202	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	106987360	106987360	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr6:106987360G>A	ENST00000369066.3	+	7	4064	c.3577G>A	c.(3577-3579)Gat>Aat	p.D1193N	AIM1_ENST00000535438.1_5'Flank	NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		GTCCTTCTGGGATACAGAAGA	0.443																																					p.D1193N		.											.	AIM1	139	0			c.G3577A						.						141.0	134.0	137.0					6																	106987360		2203	4300	6503	SO:0001583	missense	202	exon7			TTCTGGGATACAG	U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 4"", ""beta-gamma crystallin domain containing 1"""	601797	"""suppression of tumorigenicity 4 (malignant melanoma)"""	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.3577G>A	6.37:g.106987360G>A	ENSP00000358062:p.Asp1193Asn	133.0	0.0		176.0	22.0	NM_001624	Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000369066.3	37	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.357776	0.41801	.	.	ENSG00000112297	ENST00000369066	T	0.75589	-0.95	5.66	1.95	0.26073	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.521950	0.23966	N	0.042805	T	0.19485	0.0468	N	0.00707	-1.245	0.80722	D	1	B	0.09022	0.002	B	0.11329	0.006	T	0.05289	-1.0894	10	0.20519	T	0.43	.	8.5611	0.33511	0.357:0.0:0.643:0.0	.	1193	Q9Y4K1	AIM1_HUMAN	N	1193	ENSP00000358062:D1193N	ENSP00000358062:D1193N	D	+	1	0	AIM1	107094053	1.000000	0.71417	0.684000	0.30055	0.964000	0.63967	3.315000	0.51951	0.342000	0.23796	0.655000	0.94253	GAT	.		0.443	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1		
AIRE	326	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	21	45709596	45709596	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr21:45709596G>A	ENST00000291582.5	+	6	836	c.709G>A	c.(709-711)Gaa>Aaa	p.E237K	AIRE_ENST00000329347.4_5'Flank|AIRE_ENST00000355347.4_5'Flank	NM_000383.3	NP_000374.1	O43918	AIRE_HUMAN	autoimmune regulator	237	SAND. {ECO:0000255|PROSITE- ProRule:PRU00185}.				humoral immune response (GO:0006959)|immune response (GO:0006955)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|transcription regulatory region DNA binding (GO:0044212)|translation regulator activity (GO:0045182)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		CAGCAAGTTCGAAGACTCCGG	0.662									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy																												p.E237K		.											.	AIRE	91	0			c.G709A						.						46.0	53.0	50.0					21																	45709596		2203	4298	6501	SO:0001583	missense	326	exon6	Familial Cancer Database	APECED	AAGTTCGAAGACT	AB006684	CCDS13706.1	21q22.3	2014-09-17	2007-06-20		ENSG00000160224	ENSG00000160224		"""Zinc fingers, PHD-type"""	360	protein-coding gene	gene with protein product	"""autoimmune polyendocrinopathy candidiasis ectodermal dystrophy"""	607358	"""autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy)"""	APECED		9398840	Standard	NM_000383		Approved	PGA1, APS1	uc002zei.3	O43918	OTTHUMG00000086921	ENST00000291582.5:c.709G>A	21.37:g.45709596G>A	ENSP00000291582:p.Glu237Lys	159.0	1.0		132.0	27.0	NM_000383	B2RP50|O43922|O43932|O75745	Missense_Mutation	SNP	ENST00000291582.5	37	CCDS13706.1	.	.	.	.	.	.	.	.	.	.	G	14.52	2.560909	0.45590	.	.	ENSG00000160224	ENST00000291582	T	0.67865	-0.29	4.12	3.19	0.36642	SAND domain-like (2);SAND domain (3);	0.132398	0.33631	N	0.004708	T	0.77116	0.4083	M	0.67953	2.075	0.43540	D	0.995837	D	0.89917	1.0	D	0.83275	0.996	T	0.76173	-0.3056	10	0.48119	T	0.1	-42.7415	10.0972	0.42482	0.0:0.2062:0.7938:0.0	.	237	O43918	AIRE_HUMAN	K	237	ENSP00000291582:E237K	ENSP00000291582:E237K	E	+	1	0	AIRE	44534024	1.000000	0.71417	0.060000	0.19600	0.008000	0.06430	4.232000	0.58645	0.981000	0.38548	0.591000	0.81541	GAA	.		0.662	AIRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195842.2		
ALG9	79796	hgsc.bcm.edu;mdanderson.org	37	11	111740961	111740961	+	3'UTR	SNP	C	C	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr11:111740961C>T	ENST00000524880.1	-	0	1256				ALG9_ENST00000527228.1_5'UTR|ALG9_ENST00000527377.1_5'Flank|ALG9_ENST00000531154.1_5'UTR|ALG9_ENST00000398006.2_5'UTR			Q9H6U8	ALG9_HUMAN	ALG9, alpha-1,2-mannosyltransferase						cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	dol-P-Man:Man(6)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0052926)|dol-P-Man:Man(8)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0052918)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)		CTACTGGCTCCCAGTAGTTGA	0.403																																					p.W88X		.											.	ALG9	91	0			c.G264A						.						74.0	73.0	73.0					11																	111740961		1837	4102	5939	SO:0001624	3_prime_UTR_variant	79796	exon3			TGGCTCCCAGTAG		CCDS41714.1, CCDS53709.1, CCDS73379.1, CCDS73380.1	11q23	2013-02-26	2013-02-26	2004-08-26	ENSG00000086848	ENSG00000086848	2.4.1.259, 2.4.1.261	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	15672	protein-coding gene	gene with protein product	"""dolichyl-P-Man:Man(6)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase"", ""dolichyl-P-Man:Man(8)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase"", ""dol-P-Man dependent alpha-1,2-mannosyltransferase"""	606941	"""disrupted in bipolar affective disorder 1"", ""asparagine-linked glycosylation 9 homolog (yeast, alpha 1,2 mannosyltransferase)"", ""asparagine-linked glycosylation 9, alpha- 1,2-mannosyltransferase homolog (S. cerevisiae, alpha- 1,2-mannosyltransferase)"", ""asparagine-linked glycosylation 9, alpha-1,2-mannosyltransferase homolog (S. cerevisiae)"""	DIBD1		12030331, 15148656	Standard	NM_024740		Approved		uc021qql.1	Q9H6U8	OTTHUMG00000166819	ENST00000524880.1:c.*94G>A	11.37:g.111740961C>T		97.0	0.0		113.0	20.0	NM_001077690	Q6ZMD5|Q7Z4R4|Q96GS7|Q96PB9|Q9H068	Nonsense_Mutation	SNP	ENST00000524880.1	37		.	.	.	.	.	.	.	.	.	.	C	13.68	2.308016	0.40895	.	.	ENSG00000086848	ENST00000428306	.	.	.	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.7951	18.9101	0.92479	0.0:1.0:0.0:0.0	.	.	.	.	X	321	.	ENSP00000387627:W321X	W	-	3	0	ALG9	111246171	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	7.336000	0.79245	2.539000	0.85634	0.655000	0.94253	TGG	.		0.403	ALG9-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000413376.1	NM_024740	
AMER2	219287	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	13	25743926	25743926	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr13:25743926C>G	ENST00000515384.1	-	1	2499	c.1832G>C	c.(1831-1833)aGc>aCc	p.S611T	AMER2_ENST00000381853.3_Missense_Mutation_p.S492T|AMER2_ENST00000357816.2_Missense_Mutation_p.S492T			Q8N7J2	AMER2_HUMAN	APC membrane recruitment protein 2	611					ectoderm development (GO:0007398)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)										GTGCTTGATGCTAATAGGGAT	0.547																																					p.S611T		.											.	.	.	0			c.G1832C						.						196.0	169.0	178.0					13																	25743926		2203	4300	6503	SO:0001583	missense	219287	exon1			TTGATGCTAATAG	AK055049	CCDS9312.1, CCDS53859.1	13q12.13	2013-10-11	2012-12-03	2012-12-03	ENSG00000165566	ENSG00000165566		"""-"""	26360	protein-coding gene	gene with protein product		614659	"""family with sequence similarity 123A"""	FAM123A		20843316	Standard	XM_005266279		Approved	FLJ25477	uc001uqb.3	Q8N7J2	OTTHUMG00000016602	ENST00000515384.1:c.1832G>C	13.37:g.25743926C>G	ENSP00000426528:p.Ser611Thr	366.0	0.0		257.0	59.0	NM_152704	Q5RL80|Q5VX56|Q8N593|Q96NN5	Missense_Mutation	SNP	ENST00000515384.1	37	CCDS53859.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.507438	0.85282	.	.	ENSG00000165566	ENST00000357816;ENST00000381853;ENST00000515384	T;T;T	0.50813	0.81;0.81;0.73	5.97	5.97	0.96955	.	0.105202	0.64402	D	0.000001	T	0.59609	0.2206	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.994;0.997	T	0.60885	-0.7174	10	0.66056	D	0.02	-18.8671	19.4162	0.94700	0.0:1.0:0.0:0.0	.	611;492	Q8N7J2;Q8N7J2-2	F123A_HUMAN;.	T	492;492;611	ENSP00000350469:S492T;ENSP00000371277:S492T;ENSP00000426528:S611T	ENSP00000350469:S492T	S	-	2	0	FAM123A	24641926	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.080000	0.76837	2.837000	0.97791	0.655000	0.94253	AGC	.		0.547	AMER2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000370229.1	NM_152704	
ANKRA2	57763	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	72857022	72857022	+	Silent	SNP	T	T	C			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr5:72857022T>C	ENST00000296785.3	-	3	1039	c.381A>G	c.(379-381)aaA>aaG	p.K127K		NM_023039.4	NP_075526.1	Q9H9E1	ANRA2_HUMAN	ankyrin repeat, family A (RFXANK-like), 2	127						cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	low-density lipoprotein particle binding (GO:0030169)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8		Lung NSC(167;0.0378)|Ovarian(174;0.0908)		OV - Ovarian serous cystadenocarcinoma(47;3.71e-54)		TGGTTGACTGTTTTATGGGTG	0.398																																					p.K127K		.											.	ANKRA2	90	0			c.A381G						.						311.0	279.0	290.0					5																	72857022		2203	4300	6503	SO:0001819	synonymous_variant	57763	exon3			TGACTGTTTTATG	AA442702	CCDS4020.1	5q12-q13	2013-01-10			ENSG00000164331	ENSG00000164331		"""Ankyrin repeat domain containing"""	13208	protein-coding gene	gene with protein product		605787				10965114	Standard	NM_023039		Approved		uc003kcu.2	Q9H9E1	OTTHUMG00000102030	ENST00000296785.3:c.381A>G	5.37:g.72857022T>C		216.0	0.0		241.0	25.0	NM_023039		Silent	SNP	ENST00000296785.3	37	CCDS4020.1																																																																																			.		0.398	ANKRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219814.2	NM_023039	
ANKRD12	23253	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	18	9254383	9254383	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr18:9254383A>G	ENST00000262126.4	+	9	1358	c.1118A>G	c.(1117-1119)aAg>aGg	p.K373R	ANKRD12_ENST00000383440.2_Missense_Mutation_p.K350R|ANKRD12_ENST00000400020.3_Missense_Mutation_p.K350R	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	373						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						GAAATTAATAAGATGATTGAT	0.348																																					p.K373R		.											.	ANKRD12	92	0			c.A1118G						.						96.0	100.0	98.0					18																	9254383		2203	4300	6503	SO:0001583	missense	23253	exon9			TTAATAAGATGAT	AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"""Ankyrin repeat domain containing"""	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.1118A>G	18.37:g.9254383A>G	ENSP00000262126:p.Lys373Arg	105.0	0.0		95.0	10.0	NM_015208	O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Missense_Mutation	SNP	ENST00000262126.4	37	CCDS11843.1	.	.	.	.	.	.	.	.	.	.	A	12.16	1.854741	0.32791	.	.	ENSG00000101745	ENST00000383440;ENST00000546007;ENST00000262126;ENST00000359158	T;T	0.06142	3.44;3.34	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.09862	0.0242	M	0.64997	1.995	0.80722	D	1	B;B	0.25048	0.117;0.071	B;B	0.23018	0.043;0.019	T	0.10042	-1.0647	10	0.25751	T	0.34	-28.0808	15.8893	0.79279	1.0:0.0:0.0:0.0	.	350;373	Q6UB98-2;Q6UB98	.;ANR12_HUMAN	R	350;350;373;80	ENSP00000372932:K350R;ENSP00000262126:K373R	ENSP00000262126:K373R	K	+	2	0	ANKRD12	9244383	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	7.162000	0.77515	2.153000	0.67306	0.528000	0.53228	AAG	.		0.348	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254478.2	NM_015208	
ANKRD30A	91074	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	37507997	37507997	+	Silent	SNP	C	C	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr10:37507997C>T	ENST00000602533.1	+	34	3288	c.3189C>T	c.(3187-3189)gcC>gcT	p.A1063A	ANKRD30A_ENST00000361713.1_Silent_p.A1063A|ANKRD30A_ENST00000374660.1_Silent_p.A1182A			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1119					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TGGAAATAGCCACACTGAAAC	0.313																																					p.A1063A		.											.	ANKRD30A	161	0			c.C3189T						.						61.0	60.0	61.0					10																	37507997		1812	4062	5874	SO:0001819	synonymous_variant	91074	exon34			AATAGCCACACTG	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.3189C>T	10.37:g.37507997C>T		174.0	0.0		203.0	65.0	NM_052997	Q5W025	Silent	SNP	ENST00000602533.1	37																																																																																				.		0.313	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997	
AP3B1	8546	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	77409598	77409598	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr5:77409598T>C	ENST00000255194.6	-	19	2402	c.2227A>G	c.(2227-2229)Aac>Gac	p.N743D	AP3B1_ENST00000519295.1_Missense_Mutation_p.N694D	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	743	Glu/Ser-rich.				anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein targeting to lysosome (GO:0006622)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|protein phosphatase binding (GO:0019903)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		GCTTTTGAGTTCCTCTTGGCT	0.433									Hermansky-Pudlak syndrome																												p.N743D		.											.	AP3B1	90	0			c.A2227G						.						190.0	174.0	180.0					5																	77409598		2203	4300	6503	SO:0001583	missense	8546	exon19	Familial Cancer Database	HPS, HPS1-8	TTGAGTTCCTCTT	U81504	CCDS4041.1, CCDS64186.1	5q14.1	2014-09-17			ENSG00000132842	ENSG00000132842			566	protein-coding gene	gene with protein product		603401				9182526, 9151686	Standard	NM_003664		Approved	ADTB3A, HPS2	uc003kfj.4	O00203	OTTHUMG00000106919	ENST00000255194.6:c.2227A>G	5.37:g.77409598T>C	ENSP00000255194:p.Asn743Asp	84.0	0.0		66.0	16.0	NM_003664	E5RJ68|O00580|Q7Z393|Q9HD66	Missense_Mutation	SNP	ENST00000255194.6	37	CCDS4041.1	.	.	.	.	.	.	.	.	.	.	T	3.780	-0.045885	0.07452	.	.	ENSG00000132842	ENST00000255194;ENST00000519295;ENST00000535760	T;T	0.13538	2.58;2.58	5.92	4.75	0.60458	.	1.063530	0.07119	N	0.843528	T	0.10294	0.0252	N	0.22421	0.69	0.09310	N	1	B	0.19817	0.039	B	0.16722	0.016	T	0.37641	-0.9697	10	0.08381	T	0.77	-3.3181	10.549	0.45077	0.0:0.0728:0.0:0.9272	.	743	O00203	AP3B1_HUMAN	D	743;694;743	ENSP00000255194:N743D;ENSP00000430597:N694D	ENSP00000255194:N743D	N	-	1	0	AP3B1	77445354	0.017000	0.18338	0.004000	0.12327	0.755000	0.42902	2.013000	0.40942	1.066000	0.40716	0.459000	0.35465	AAC	.		0.433	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000225548.2		
ARHGAP24	83478	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	86852134	86852134	+	Intron	SNP	A	A	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr4:86852134A>T	ENST00000395184.1	+	4	857				ARHGAP24_ENST00000503995.1_Intron|ARHGAP24_ENST00000395183.2_Intron|ARHGAP24_ENST00000264343.4_Silent_p.S17S	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24						activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of ruffle assembly (GO:1900028)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|wound healing, spreading of epidermal cells (GO:0035313)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)	Rac GTPase activator activity (GO:0030675)			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		CCTTAGCCTCAACTCCTTTCA	0.438																																					p.S17S		.											.	ARHGAP24	227	0			c.A51T						.						82.0	88.0	86.0					4																	86852134		2203	4300	6503	SO:0001627	intron_variant	83478	exon1			AGCCTCAACTCCT	AK091196	CCDS3611.1, CCDS34025.1, CCDS43246.1	4q22.1	2013-01-10			ENSG00000138639	ENSG00000138639		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	25361	protein-coding gene	gene with protein product		610586				11230166, 15254788	Standard	NM_001042669		Approved	DKFZP564B1162, FLJ33877, FilGAP	uc003hpk.3	Q8N264	OTTHUMG00000130427	ENST00000395184.1:c.391+7211A>T	4.37:g.86852134A>T		159.0	0.0		96.0	21.0	NM_031305	Q4KMG1|Q6ZNV3|Q86TI5|Q86WE4|Q9H0T6	Silent	SNP	ENST00000395184.1	37	CCDS34025.1																																																																																			.		0.438	ARHGAP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252815.2	NM_031305	
ARL13A	392509	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	100240896	100240896	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chrX:100240896C>A	ENST00000450049.2	+	4	484	c.371C>A	c.(370-372)cCc>cAc	p.P124H		NM_001162491.1	NP_001155963.1	Q5H913	AR13A_HUMAN	ADP-ribosylation factor-like 13A	124					small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			endometrium(1)|ovary(1)	2						GCAGGGAAACCCATCTTAATG	0.443																																					p.P124H		.											.	ARL13A	131	0			c.C371A						.						52.0	46.0	48.0					X																	100240896		1911	4118	6029	SO:0001583	missense	392509	exon4			GGAAACCCATCTT		CCDS55463.1	Xq22.1	2014-05-09	2005-11-18	2005-11-18	ENSG00000174225	ENSG00000174225		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	31709	protein-coding gene	gene with protein product			"""ADP-ribosylation factor-like 13"""	ARL13			Standard	NM_001162491		Approved		uc011mrf.2	Q5H913	OTTHUMG00000022013	ENST00000450049.2:c.371C>A	X.37:g.100240896C>A	ENSP00000398637:p.Pro124His	65.0	0.0		53.0	12.0	NM_001162490	B2RTT6|B4DX50	Missense_Mutation	SNP	ENST00000450049.2	37	CCDS55463.1	.	.	.	.	.	.	.	.	.	.	C	18.13	3.556021	0.65425	.	.	ENSG00000174225	ENST00000450049	D	0.85258	-1.96	4.44	4.44	0.53790	.	0.050939	0.85682	D	0.000000	D	0.94145	0.8122	H	0.96048	3.76	0.44807	D	0.997813	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94886	0.8043	10	0.72032	D	0.01	.	11.4066	0.49902	0.0:1.0:0.0:0.0	.	124;124	B2RTT6;Q5H913	.;AR13A_HUMAN	H	124	ENSP00000398637:P124H	ENSP00000398637:P124H	P	+	2	0	ARL13A	100127552	0.999000	0.42202	1.000000	0.80357	0.993000	0.82548	3.203000	0.51075	2.464000	0.83262	0.594000	0.82650	CCC	.		0.443	ARL13A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000057504.2	XM_373358	
ARL5C	390790	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	37321340	37321340	+	Silent	SNP	G	G	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr17:37321340G>A	ENST00000269586.7	-	2	98	c.99C>T	c.(97-99)ctC>ctT	p.L33L	ARL5C_ENST00000444555.1_Silent_p.L33L|ARL5C_ENST00000583123.1_5'UTR	NM_001143968.1	NP_001137440.1	A6NH57	ARL5C_HUMAN	ADP-ribosylation factor-like 5C	33					small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)										ACAACCGGTAGAGAATGGTGG	0.597											OREG0024370	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.L33L		.											.	ARL5C	68	0			c.C99T						.						183.0	162.0	169.0					17																	37321340		692	1591	2283	SO:0001819	synonymous_variant	390790	exon2			CCGGTAGAGAATG		CCDS45664.1	17q12	2014-05-09	2005-11-08	2005-11-08	ENSG00000141748	ENSG00000141748		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	31111	protein-coding gene	gene with protein product			"""ADP-ribosylation factor-like 12"""	ARL12			Standard	NM_001143968		Approved		uc010wea.2	A6NH57		ENST00000269586.7:c.99C>T	17.37:g.37321340G>A		156.0	0.0	869	153.0	16.0	NM_001143968		Silent	SNP	ENST00000269586.7	37	CCDS45664.1																																																																																			.		0.597	ARL5C-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444566.1	NM_001143968	
ASB5	140458	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	177190077	177190077	+	Silent	SNP	T	T	C			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr4:177190077T>C	ENST00000296525.3	-	1	296	c.183A>G	c.(181-183)gtA>gtG	p.V61V		NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	61					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		GTCCTTGGGTTACTCCATAAA	0.393																																					p.V61V		.											.	ASB5	228	0			c.A183G						.						105.0	92.0	96.0					4																	177190077		2203	4300	6503	SO:0001819	synonymous_variant	140458	exon1			TTGGGTTACTCCA	AY057053	CCDS3827.1	4q34.1	2013-01-10	2011-01-25		ENSG00000164122	ENSG00000164122		"""Ankyrin repeat domain containing"""	17180	protein-coding gene	gene with protein product		615050	"""ankyrin repeat and SOCS box-containing 5"""				Standard	NM_080874		Approved		uc003iuq.2	Q8WWX0	OTTHUMG00000160793	ENST00000296525.3:c.183A>G	4.37:g.177190077T>C		120.0	0.0		91.0	14.0	NM_080874	Q8N7B5	Silent	SNP	ENST00000296525.3	37	CCDS3827.1																																																																																			.		0.393	ASB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362344.1		
ASCC3	10973	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	100960788	100960788	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr6:100960788T>A	ENST00000369162.2	-	40	6426	c.6082A>T	c.(6082-6084)Aat>Tat	p.N2028Y		NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	2028	SEC63 2.				cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		GATAAGAAATTCCATGCCTAA	0.343																																					p.N2028Y		.											.	ASCC3	96	0			c.A6082T						.						62.0	55.0	57.0					6																	100960788		2203	4300	6503	SO:0001583	missense	10973	exon40			AGAAATTCCATGC	AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"""RNA helicase family"""	614217	"""helicase, ATP binding 1"""	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.6082A>T	6.37:g.100960788T>A	ENSP00000358159:p.Asn2028Tyr	74.0	0.0		118.0	17.0	NM_006828	E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Missense_Mutation	SNP	ENST00000369162.2	37	CCDS5046.1	.	.	.	.	.	.	.	.	.	.	T	17.09	3.300595	0.60195	.	.	ENSG00000112249	ENST00000369162	T	0.61392	0.11	5.74	5.74	0.90152	Sec63 domain (3);	0.335977	0.32578	N	0.005906	T	0.63010	0.2475	M	0.77820	2.39	0.80722	D	1	P	0.48834	0.916	P	0.54431	0.752	T	0.69993	-0.4994	10	0.72032	D	0.01	.	12.5418	0.56174	0.0:0.0:0.1388:0.8612	.	2028	Q8N3C0	HELC1_HUMAN	Y	2028	ENSP00000358159:N2028Y	ENSP00000358159:N2028Y	N	-	1	0	ASCC3	101067509	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.136000	0.42121	2.198000	0.70561	0.533000	0.62120	AAT	.		0.343	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828	
ATP1A4	480	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	160141549	160141549	+	Splice_Site	SNP	T	T	C			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr1:160141549T>C	ENST00000368081.4	+	12	2325		c.e12+2		ATP1A4_ENST00000418334.1_Splice_Site	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide						ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGAATTAAGGTAAATACTTGC	0.488																																					.		.											.	ATP1A4	94	0			c.1854+2T>C						.						76.0	79.0	78.0					1																	160141549		2203	4300	6503	SO:0001630	splice_region_variant	480	exon12			TTAAGGTAAATAC	BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"""ATPases / P-type"""	14073	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-4"", ""sodium pump subunit alpha-4"", ""sodium-potassium ATPase catalytic subunit alpha-4"""	607321	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 2"""	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.1854+2T>C	1.37:g.160141549T>C		42.0	0.0		96.0	12.0	NM_144699	Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Splice_Site	SNP	ENST00000368081.4	37	CCDS1197.1	.	.	.	.	.	.	.	.	.	.	T	12.94	2.087669	0.36855	.	.	ENSG00000132681	ENST00000368081	.	.	.	4.19	4.19	0.49359	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.5356	0.50634	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	ATP1A4	158408173	1.000000	0.71417	0.998000	0.56505	0.311000	0.27955	7.656000	0.83736	1.898000	0.54952	0.533000	0.62120	.	.		0.488	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077415.1	NM_144699	Intron
BAHCC1	57597	ucsc.edu;bcgsc.ca	37	17	79424536	79424536	+	Silent	SNP	G	G	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr17:79424536G>T	ENST00000307745.7	+	21	4959	c.4959G>T	c.(4957-4959)gtG>gtT	p.V1653V																								GTGTGGCCGTGCTGGGGCCCT	0.637																																					.		.											.	BAHCC1	23	0			.						.						17.0	23.0	21.0					17																	79424536		2062	4205	6267	SO:0001819	synonymous_variant	57597	.			GGCCGTGCTGGGG																												ENST00000307745.7:c.4959G>T	17.37:g.79424536G>T		53.0	0.0		46.0	9.0	.		Silent	SNP	ENST00000307745.7	37																																																																																				.		0.637	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			
BAP1	8314	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	52441334	52441334	+	Splice_Site	SNP	T	T	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr3:52441334T>A	ENST00000460680.1	-	7	909		c.e7-2		BAP1_ENST00000296288.5_Splice_Site	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)						anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.?(1)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		GGCTCGGGCCTGGGGAAAAAC	0.582			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""																															.	GBM(101;493 1458 7992 21037 25532)	.		Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	.	BAP1	1032	1	Unknown(1)	pleura(1)	c.438-2A>T						.						74.0	78.0	77.0					3																	52441334		2203	4300	6503	SO:0001630	splice_region_variant	8314	exon8			CGGGCCTGGGGAA	AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930			950	protein-coding gene	gene with protein product		603089				9528852	Standard	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.438-2A>T	3.37:g.52441334T>A		106.0	0.0		98.0	60.0	NM_004656	B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Splice_Site	SNP	ENST00000460680.1	37	CCDS2853.1	.	.	.	.	.	.	.	.	.	.	T	18.68	3.675559	0.67928	.	.	ENSG00000163930	ENST00000460680;ENST00000296288;ENST00000470173	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.023	0.80512	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	BAP1	52416374	1.000000	0.71417	0.984000	0.44739	0.752000	0.42762	8.005000	0.88553	2.193000	0.70182	0.533000	0.62120	.	.		0.582	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1		Intron
BICD1	636	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	12	32260378	32260378	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr12:32260378G>A	ENST00000281474.5	+	1	216	c.113G>A	c.(112-114)gGg>gAg	p.G38E	BICD1_ENST00000551848.1_Missense_Mutation_p.G38E|BICD1_ENST00000548411.1_Missense_Mutation_p.G38E|RP11-843B15.2_ENST00000551974.1_RNA|BICD1_ENST00000550207.1_Missense_Mutation_p.G38E|BICD1_ENST00000551086.1_Missense_Mutation_p.G38E	NM_001714.2	NP_001705.2	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	38					anatomical structure morphogenesis (GO:0009653)|intracellular mRNA localization (GO:0008298)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900737)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein localization to organelle (GO:0033365)|regulation of proteinase activated receptor activity (GO:1900276)|RNA processing (GO:0006396)|stress granule assembly (GO:0034063)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|host cell viral assembly compartment (GO:0072517)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	cytoskeletal adaptor activity (GO:0008093)|dynactin binding (GO:0034452)|dynein binding (GO:0045502)|proteinase activated receptor binding (GO:0031871)|Rab GTPase binding (GO:0017137)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			GCCGAGTACGGGCTGGTGGTG	0.547																																					p.G38E		.											.	BICD1	153	0			c.G113A						.						73.0	63.0	66.0					12																	32260378		2203	4300	6503	SO:0001583	missense	636	exon1			AGTACGGGCTGGT	U90028	CCDS8726.1, CCDS44859.1	12p11.2-p11.1	2005-01-13	2001-11-28			ENSG00000151746			1049	protein-coding gene	gene with protein product		602204	"""Bicaudal D (Drosophila) homolog 1"""			9367685	Standard	NM_001714		Approved		uc001rku.3	Q96G01	OTTHUMG00000169307	ENST00000281474.5:c.113G>A	12.37:g.32260378G>A	ENSP00000281474:p.Gly38Glu	139.0	0.0		125.0	11.0	NM_001714	A8K2C3|F8W113|O43892|O43893	Missense_Mutation	SNP	ENST00000281474.5	37	CCDS8726.1	.	.	.	.	.	.	.	.	.	.	G	33	5.197433	0.94960	.	.	ENSG00000151746	ENST00000551848;ENST00000550207;ENST00000548411;ENST00000281474;ENST00000551086	T;T;T;T;T	0.75477	1.27;1.27;-0.9;-0.94;1.27	4.01	4.01	0.46588	.	0.000000	0.64402	D	0.000010	D	0.84973	0.5591	M	0.77616	2.38	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.83652	0.0156	10	0.24483	T	0.36	.	16.2917	0.82756	0.0:0.0:1.0:0.0	.	38;38	F8W113;Q96G01	.;BICD1_HUMAN	E	38	ENSP00000448933:G38E;ENSP00000447663:G38E;ENSP00000446793:G38E;ENSP00000281474:G38E;ENSP00000447238:G38E	ENSP00000281474:G38E	G	+	2	0	BICD1	32151645	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.971000	0.93419	2.067000	0.61834	0.561000	0.74099	GGG	.		0.547	BICD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403380.1	NM_001714	
BLID	414899	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	121986461	121986461	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr11:121986461G>T	ENST00000560104.1	-	1	462	c.170C>A	c.(169-171)cCt>cAt	p.P57H		NM_001001786.2	NP_001001786.2	Q8IZY5	BLID_HUMAN	BH3-like motif containing, cell death inducer	57					apoptotic process (GO:0006915)	mitochondrion (GO:0005739)				NS(1)|large_intestine(4)|lung(6)|pancreas(1)	12		Breast(109;0.0164)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;2.08e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.101)		AGGCAACATAGGTTCTTTGTT	0.502											OREG0021435	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.P57H		.											.	.	.	0			c.C170A						.						141.0	141.0	141.0					11																	121986461		2202	4299	6501	SO:0001583	missense	414899	exon1			AACATAGGTTCTT	AF303179	CCDS31693.1	11q24.1	2007-06-22				ENSG00000259571			33495	protein-coding gene	gene with protein product	"""breast cancer cell 2"""	608853				15069058, 17220890	Standard	NM_001001786		Approved	BRCC2	uc001pyf.3	Q8IZY5		ENST00000560104.1:c.170C>A	11.37:g.121986461G>T	ENSP00000453153:p.Pro57His	162.0	0.0	1515	183.0	29.0	NM_001001786	A1L416	Missense_Mutation	SNP	ENST00000560104.1	37	CCDS31693.1	.	.	.	.	.	.	.	.	.	.	G	8.767	0.924959	0.18056	.	.	ENSG00000258606;ENSG00000258574	ENST00000553434;ENST00000556841	.	.	.	3.92	1.85	0.25348	.	.	.	.	.	T	0.17238	0.0414	N	0.08118	0	0.09310	N	1	B	0.20261	0.043	B	0.21546	0.035	T	0.21724	-1.0237	8	0.87932	D	0	.	2.5933	0.04847	0.1789:0.0:0.5378:0.2833	.	57	Q8IZY5	BLID_HUMAN	H	57	.	ENSP00000448995:P57H	P	-	2	0	BLID;AP001924.1	121491671	0.007000	0.16637	0.002000	0.10522	0.022000	0.10575	0.717000	0.25851	0.494000	0.27859	-0.293000	0.09583	CCT	.		0.502	BLID-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387656.1	NM_001001786	
BMPR1A	657	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	88649933	88649933	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr10:88649933G>A	ENST00000372037.3	+	4	719	c.182G>A	c.(181-183)tGc>tAc	p.C61Y	RNU1-19P_ENST00000363306.1_RNA	NM_004329.2	NP_004320.2	P36894	BMR1A_HUMAN	bone morphogenetic protein receptor, type IA	61					BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|developmental growth (GO:0048589)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic digit morphogenesis (GO:0042733)|embryonic organ development (GO:0048568)|endocardial cushion formation (GO:0003272)|heart formation (GO:0060914)|hindlimb morphogenesis (GO:0035137)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|lateral mesoderm development (GO:0048368)|lung development (GO:0030324)|mesendoderm development (GO:0048382)|mesoderm formation (GO:0001707)|Mullerian duct regression (GO:0001880)|negative regulation of neurogenesis (GO:0050768)|neural crest cell development (GO:0014032)|neural plate mediolateral regionalization (GO:0021998)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|paraxial mesoderm structural organization (GO:0048352)|pituitary gland development (GO:0021983)|positive regulation of bone mineralization (GO:0030501)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of lateral mesodermal cell fate specification (GO:0048378)|somitogenesis (GO:0001756)|stem cell maintenance (GO:0019827)|transforming growth factor beta receptor signaling pathway (GO:0007179)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|SMAD binding (GO:0046332)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|skin(1)|stomach(1)	24						TTTTTAAAGTGCTATTGCTCA	0.403			"""Mis, N, F"""			gastrointestinal polyps			Juvenile Polyposis;Hereditary Mixed Polyposis syndrome type 2																												p.C61Y	Ovarian(190;603 2086 22044 30335 47971)	.	yes	Rec		Juvenile polyposis	10	10q22.3	657	"""bone morphogenetic protein receptor, type IA"""		E	.	BMPR1A	1619	0			c.G182A						.						165.0	151.0	156.0					10																	88649933		2203	4300	6503	SO:0001583	missense	657	exon4	Familial Cancer Database	incl.: Juvenile Polyposis of the Stomach;HMPS2	TAAAGTGCTATTG	BC028383	CCDS7378.1	10q22.3	2014-09-17			ENSG00000107779	ENSG00000107779		"""CD molecules"""	1076	protein-coding gene	gene with protein product		601299		ACVRLK3		8397373, 9730621	Standard	NM_004329		Approved	ALK3, CD292	uc001kdy.3	P36894	OTTHUMG00000018657	ENST00000372037.3:c.182G>A	10.37:g.88649933G>A	ENSP00000361107:p.Cys61Tyr	243.0	0.0		275.0	34.0	NM_004329	A8K6U9|Q8NEN8	Missense_Mutation	SNP	ENST00000372037.3	37	CCDS7378.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.805747	0.90623	.	.	ENSG00000107779	ENST00000224764;ENST00000372037	D	0.99940	-8.4	6.01	6.01	0.97437	TGF-beta receptor/activin receptor, type I/II (1);	0.000000	0.85682	D	0.000000	D	0.99951	0.9979	M	0.93283	3.4	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96378	0.9279	10	0.87932	D	0	.	20.5211	0.99222	0.0:0.0:1.0:0.0	.	61	P36894	BMR1A_HUMAN	Y	61	ENSP00000361107:C61Y	ENSP00000224764:C61Y	C	+	2	0	BMPR1A	88639913	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.065000	0.93941	2.861000	0.98227	0.650000	0.86243	TGC	.		0.403	BMPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049170.3	NM_004329	
BMPR2	659	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	203332240	203332240	+	Splice_Site	SNP	A	A	G			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr2:203332240A>G	ENST00000374580.4	+	3	786		c.e3-1		BMPR2_ENST00000479069.1_Splice_Site|BMPR2_ENST00000374574.2_Splice_Site	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)						activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|brain development (GO:0007420)|cellular response to starvation (GO:0009267)|chondrocyte development (GO:0002063)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm formation (GO:0001707)|negative regulation of cell growth (GO:0030308)|negative regulation of chondrocyte proliferation (GO:1902731)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of vasoconstriction (GO:0045906)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|regulation of cell proliferation (GO:0042127)|regulation of lung blood pressure (GO:0014916)|retina vasculature development in camera-type eye (GO:0061298)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|venous blood vessel development (GO:0060841)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|fully spanning plasma membrane (GO:0044214)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	activin receptor activity, type II (GO:0016362)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						ATTGATTTATAGGATGTTGGT	0.348																																					.		.											.	BMPR2	1003	0			c.248-2A>G						.						97.0	88.0	91.0					2																	203332240		2203	4300	6503	SO:0001630	splice_region_variant	659	exon3			ATTTATAGGATGT	Z48923	CCDS33361.1	2q33-q34	2014-09-17			ENSG00000204217	ENSG00000204217			1078	protein-coding gene	gene with protein product		600799	"""primary pulmonary hypertension 1"""	PPH1		7791754	Standard	NM_001204		Approved	BRK-3, T-ALK, BMPR3, BMPR-II	uc002uzf.4	Q13873	OTTHUMG00000133617	ENST00000374580.4:c.248-1A>G	2.37:g.203332240A>G		85.0	0.0		115.0	47.0	NM_001204	Q13161|Q16569|Q4ZG08|Q53SA5|Q585T8	Splice_Site	SNP	ENST00000374580.4	37	CCDS33361.1	.	.	.	.	.	.	.	.	.	.	A	15.82	2.947200	0.53186	.	.	ENSG00000204217	ENST00000374580;ENST00000374574	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3775	0.74621	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BMPR2	203040485	1.000000	0.71417	0.968000	0.41197	0.575000	0.36095	7.715000	0.84713	2.037000	0.60232	0.533000	0.62120	.	.		0.348	BMPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257743.1	NM_001204	Intron
BRPF1	7862	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	9776289	9776289	+	Silent	SNP	G	G	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr3:9776289G>A	ENST00000457855.1	+	1	476	c.465G>A	c.(463-465)gaG>gaA	p.E155E	BRPF1_ENST00000433861.2_Silent_p.E155E|BRPF1_ENST00000424362.1_Silent_p.E155E|BRPF1_ENST00000302054.3_Silent_p.E155E|BRPF1_ENST00000383829.2_Silent_p.E155E			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	155	Interaction with KAT6A and KAT6B.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					AGAACAAGGAGAAGCGCAAGG	0.562																																					p.E155E		.											.	BRPF1	92	0			c.G465A						.						80.0	79.0	79.0					3																	9776289		2203	4300	6503	SO:0001819	synonymous_variant	7862	exon2			CAAGGAGAAGCGC	M91585	CCDS2575.1, CCDS33692.1	3p26-p25	2008-07-18			ENSG00000156983	ENSG00000156983			14255	protein-coding gene	gene with protein product	"""peregrin"", ""bromodomain-containing protein, 140kD"""	602410				8946209, 7906940	Standard	NM_001003694		Approved	BR140	uc003bsf.3	P55201	OTTHUMG00000097033	ENST00000457855.1:c.465G>A	3.37:g.9776289G>A		245.0	0.0		215.0	37.0	NM_001003694	B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Silent	SNP	ENST00000457855.1	37	CCDS2575.1																																																																																			.		0.562	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338485.1	NM_001003694	
EDRF1	26098	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	127434413	127434413	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr10:127434413A>G	ENST00000356792.4	+	19	2960	c.2728A>G	c.(2728-2730)Atg>Gtg	p.M910V	RP11-383C5.7_ENST00000600784.1_RNA|RP11-383C5.7_ENST00000449436.1_RNA|RP11-383C5.7_ENST00000594025.1_RNA|RP11-383C5.7_ENST00000601363.1_RNA|RP11-383C5.7_ENST00000593871.1_RNA|RP11-383C5.7_ENST00000602030.1_RNA|C10orf137_ENST00000337623.3_Missense_Mutation_p.M876V	NM_001202438.1	NP_001189367.1	Q3B7T1	EDRF1_HUMAN		910					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				GGGAAGGCTCATGCGGATTTG	0.428																																					p.M910V		.											.	C10orf137	590	0			c.A2728G						.						118.0	116.0	117.0					10																	127434413		2203	4300	6503	SO:0001583	missense	26098	exon19			AGGCTCATGCGGA																												ENST00000356792.4:c.2728A>G	10.37:g.127434413A>G	ENSP00000349244:p.Met910Val	128.0	0.0		166.0	50.0	NM_001202438	B2RC65|Q3KR40|Q4G190|Q5VZQ4|Q8IZ74|Q9Y3W4	Missense_Mutation	SNP	ENST00000356792.4	37	CCDS55733.1	.	.	.	.	.	.	.	.	.	.	A	15.94	2.980803	0.53827	.	.	ENSG00000107938	ENST00000356792;ENST00000337623	T;T	0.75589	-0.95;-0.95	5.6	5.6	0.85130	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	D	0.84880	0.5570	M	0.71871	2.18	0.80722	D	1	D;D;P	0.71674	0.982;0.998;0.917	D;D;D	0.70016	0.961;0.967;0.915	D	0.85902	0.1435	10	0.54805	T	0.06	.	15.8023	0.78463	1.0:0.0:0.0:0.0	.	910;257;876	Q3B7T1;Q5VZQ1;Q3B7T1-5	EDRF1_HUMAN;.;.	V	910;876	ENSP00000349244:M910V;ENSP00000336727:M876V	ENSP00000336727:M876V	M	+	1	0	C10orf137	127424403	1.000000	0.71417	0.998000	0.56505	0.073000	0.16967	8.962000	0.93254	2.137000	0.66172	0.533000	0.62120	ATG	.		0.428	C10orf137-007	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388539.1		
RSRP1	57035	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	25570119	25570119	+	Silent	SNP	C	C	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr1:25570119C>A	ENST00000243189.7	-	4	954	c.678G>T	c.(676-678)tcG>tcT	p.S226S	C1orf63_ENST00000417642.2_Silent_p.S227S	NM_020317.3	NP_064713.3	Q9BUV0	RSRP1_HUMAN		226										breast(1)|large_intestine(1)|lung(4)|pancreas(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.9e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000333)|BRCA - Breast invasive adenocarcinoma(304;0.000443)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000932)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TTACCTTTTCCGACAGCTAGA	0.333																																					p.S226S		.											.	C1orf63	91	0			c.G678T						.						202.0	179.0	187.0					1																	25570119		2203	4300	6503	SO:0001819	synonymous_variant	57035	exon4			CTTTTCCGACAGC																												ENST00000243189.7:c.678G>T	1.37:g.25570119C>A		175.0	0.0		108.0	5.0	NM_020317	A8K917|Q49AA4|Q5TH71|Q9GZP6	Silent	SNP	ENST00000243189.7	37	CCDS260.1																																																																																			.		0.333	C1orf63-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000101966.2		
C1orf228	339541	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	45163762	45163762	+	Silent	SNP	G	G	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr1:45163762G>A	ENST00000458657.2	+	5	610	c.303G>A	c.(301-303)gaG>gaA	p.E101E	C1orf228_ENST00000535358.1_Silent_p.E101E|C1orf228_ENST00000444751.1_Intron			Q6PIY5	CA228_HUMAN	chromosome 1 open reading frame 228	101										central_nervous_system(1)	1						AATTTCTTGAGGTTGGAGGTG	0.418																																					p.E101E		.											.	.	.	0			c.G303A						.						139.0	117.0	123.0					1																	45163762		692	1591	2283	SO:0001819	synonymous_variant	339541	exon4			TCTTGAGGTTGGA	AL122004, AY254217, BC026115	CCDS53311.1	1p34.1	2011-02-22	2009-03-17	2009-03-17	ENSG00000198520	ENSG00000198520			34345	protein-coding gene	gene with protein product			"""non-protein coding RNA 82"""	NCRNA00082		12477932	Standard	NM_001145636		Approved	MGC33556, p40	uc001cmf.2	Q6PIY5	OTTHUMG00000007834	ENST00000458657.2:c.303G>A	1.37:g.45163762G>A		138.0	0.0		99.0	18.0	NM_001145636	A1KXE5	Silent	SNP	ENST00000458657.2	37	CCDS53311.1																																																																																			.		0.418	C1orf228-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023125.2	NM_001145636	
C1orf116	79098	hgsc.bcm.edu;broad.mit.edu	37	1	207198319	207198319	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr1:207198319C>T	ENST00000359470.5	-	3	445	c.196G>A	c.(196-198)Gac>Aac	p.D66N	C1orf116_ENST00000461135.2_5'UTR	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	66						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					AGTCCGCTGTCAGCCTCCGTG	0.582																																					p.D66N		.											.	C1orf116	93	0			c.G196A						.						82.0	77.0	79.0					1																	207198319		2203	4300	6503	SO:0001583	missense	79098	exon3			CGCTGTCAGCCTC		CCDS1475.1, CCDS44306.1	1q32.1	2012-06-26			ENSG00000182795	ENSG00000182795			28667	protein-coding gene	gene with protein product	"""specifically androgen-regulated gene"""	611680				15525603, 9389513	Standard	NM_023938		Approved	SARG, FLJ36507, MGC2742, MGC4309	uc001hfd.2	Q9BW04	OTTHUMG00000036580	ENST00000359470.5:c.196G>A	1.37:g.207198319C>T	ENSP00000352447:p.Asp66Asn	87.0	0.0		177.0	8.0	NM_023938	C9JV41|Q658X3	Missense_Mutation	SNP	ENST00000359470.5	37	CCDS1475.1	.	.	.	.	.	.	.	.	.	.	C	33	5.267037	0.95399	.	.	ENSG00000182795	ENST00000359470	T	0.15952	2.38	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.42177	0.1191	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.36089	-0.9762	10	0.87932	D	0	-24.9277	17.3149	0.87220	0.0:1.0:0.0:0.0	.	66	Q9BW04	SARG_HUMAN	N	66	ENSP00000352447:D66N	ENSP00000352447:D66N	D	-	1	0	C1orf116	205264942	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	6.452000	0.73485	2.317000	0.78254	0.655000	0.94253	GAC	.		0.582	C1orf116-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088973.1	NM_024115	
C1orf94	84970	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	34667800	34667800	+	Silent	SNP	C	C	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr1:34667800C>T	ENST00000488417.1	+	4	1506	c.1386C>T	c.(1384-1386)ctC>ctT	p.L462L	C1orf94_ENST00000373374.3_Silent_p.L272L	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	462										central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				CACTCTGGCTCAACCTGAACT	0.532																																					p.L462L		.											.	C1orf94	90	0			c.C1386T						.						189.0	159.0	169.0					1																	34667800		2203	4300	6503	SO:0001819	synonymous_variant	84970	exon4			CTGGCTCAACCTG	AK123355	CCDS381.1, CCDS44108.1	1p34.3	2012-06-26			ENSG00000142698	ENSG00000142698			28250	protein-coding gene	gene with protein product						12477932	Standard	NM_001134734		Approved	MGC15882	uc001bxt.3	Q6P1W5	OTTHUMG00000004012	ENST00000488417.1:c.1386C>T	1.37:g.34667800C>T		293.0	0.0		215.0	47.0	NM_001134734	B3KVT1|D3DPR3|E9PJ76|Q96IC8	Silent	SNP	ENST00000488417.1	37	CCDS44108.1																																																																																			.		0.532	C1orf94-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036845.2	NM_032884	
CCDC185	164127	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	223567373	223567373	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr1:223567373T>A	ENST00000366875.3	+	1	659	c.556T>A	c.(556-558)Tcc>Acc	p.S186T		NM_152610.2	NP_689823.2	Q8N715	CC185_HUMAN		186										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		CTGGTCCCCTTCCTCAGTTCC	0.602																																					p.S186T		.											.	C1orf65	91	0			c.T556A						.						54.0	55.0	55.0					1																	223567373		2203	4300	6503	SO:0001583	missense	164127	exon1			TCCCCTTCCTCAG																												ENST00000366875.3:c.556T>A	1.37:g.223567373T>A	ENSP00000355840:p.Ser186Thr	244.0	0.0		475.0	50.0	NM_152610	Q8N746|Q8NA93	Missense_Mutation	SNP	ENST00000366875.3	37	CCDS1537.1	.	.	.	.	.	.	.	.	.	.	T	16.72	3.201684	0.58234	.	.	ENSG00000178395	ENST00000366875	T	0.25250	1.81	4.18	3.03	0.35002	.	.	.	.	.	T	0.40145	0.1105	L	0.56769	1.78	0.19300	N	0.999974	D	0.67145	0.996	D	0.64237	0.923	T	0.11616	-1.0580	9	0.41790	T	0.15	.	7.7188	0.28721	0.0:0.0:0.213:0.787	.	186	Q8N715	CA065_HUMAN	T	186	ENSP00000355840:S186T	ENSP00000355840:S186T	S	+	1	0	C1orf65	221633996	0.077000	0.21312	0.137000	0.22149	0.043000	0.13939	0.076000	0.14712	0.605000	0.29947	0.528000	0.53228	TCC	.		0.602	C1orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092718.1		
C1R	715	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	7242776	7242776	+	Silent	SNP	C	C	G			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr12:7242776C>G	ENST00000542285.1	-	3	446	c.297G>C	c.(295-297)ccG>ccC	p.P99P	C1R_ENST00000602298.1_5'Flank			P00736	C1R_HUMAN	complement component 1, r subcomponent	100	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CCTTCTTTCCCGGGGGGTTGC	0.527																																					.		.											.	.	.	0			.						.						44.0	44.0	44.0					12																	7242776		1889	4122	6011	SO:0001819	synonymous_variant	715	.			CTTTCCCGGGGGG	M14058		12p13.31	2014-05-14			ENSG00000159403	ENSG00000159403	3.4.21.41	"""Complement system"""	1246	protein-coding gene	gene with protein product		613785					Standard	NM_001733		Approved		uc010sfy.2	P00736	OTTHUMG00000168149	ENST00000542285.1:c.297G>C	12.37:g.7242776C>G		94.0	0.0		99.0	18.0	.	A6NJQ8|Q68D77|Q8J012	Silent	SNP	ENST00000542285.1	37																																																																																				.		0.527	C1R-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001733	
C20orf24	55969	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	20	35238002	35238002	+	Splice_Site	SNP	A	A	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr20:35238002A>T	ENST00000373852.5	+	3	353		c.e3-1		C20orf24_ENST00000344795.3_Splice_Site|C20orf24_ENST00000342422.3_Intron|TGIF2-C20orf24_ENST00000558530.1_Splice_Site			Q9BUV8	CT024_HUMAN	chromosome 20 open reading frame 24											breast(1)|kidney(1)|lung(2)	4	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				CTGTTGCTCCAGATTCTGCCT	0.483																																					.		.											.	C20orf24	90	0			c.219-2A>T						.						230.0	200.0	210.0					20																	35238002		2203	4300	6503	SO:0001630	splice_region_variant	55969	exon3			TGCTCCAGATTCT	AF112213	CCDS13279.1, CCDS13280.1, CCDS56190.1	20q11.23	2011-01-25			ENSG00000101084	ENSG00000101084			15870	protein-coding gene	gene with protein product						15178406	Standard	NM_018840		Approved	PNAS-11, RIP5		Q9BUV8	OTTHUMG00000032384	ENST00000373852.5:c.219-1A>T	20.37:g.35238002A>T		180.0	0.0		229.0	26.0	NM_001199534	E1P5U0|O00605|Q5QPG6|Q5QPG7|Q9BT03|Q9BZU7|Q9UI05	Splice_Site	SNP	ENST00000373852.5	37	CCDS56190.1	.	.	.	.	.	.	.	.	.	.	A	12.10	1.837778	0.32513	.	.	ENSG00000101084	ENST00000344795;ENST00000373852	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5927	0.61969	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C20orf24	34671416	1.000000	0.71417	1.000000	0.80357	0.031000	0.12232	8.864000	0.92294	2.099000	0.63709	0.533000	0.62120	.	.		0.483	C20orf24-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079006.1	NM_018840	Intron
C2	717	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	31911759	31911759	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr6:31911759G>A	ENST00000299367.5	+	14	2075	c.1799G>A	c.(1798-1800)tGt>tAt	p.C600Y	CFB_ENST00000556679.1_Missense_Mutation_p.C447Y|CFB_ENST00000456570.1_Missense_Mutation_p.C447Y|CFB_ENST00000425368.2_5'Flank|C2_ENST00000468407.1_3'UTR|C2_ENST00000452323.2_Missense_Mutation_p.C386Y|C2_ENST00000442278.2_Missense_Mutation_p.C468Y|CFB_ENST00000477310.1_Missense_Mutation_p.C371Y|C2_ENST00000469372.1_Missense_Mutation_p.C354Y	NM_000063.4	NP_000054.2	P06681	CO2_HUMAN	complement component 2	600	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		GGCAGCACCTGTAGGGACCAT	0.612																																					p.C600Y		.											.	C2	92	0			c.G1799A						.						55.0	55.0	55.0					6																	31911759		1509	2707	4216	SO:0001583	missense	717	exon14			GCACCTGTAGGGA		CCDS4728.1, CCDS54991.1, CCDS56416.1, CCDS75427.1, CCDS75428.1	6p21.3	2014-09-17			ENSG00000166278	ENSG00000166278		"""Complement system"""	1248	protein-coding gene	gene with protein product		613927					Standard	NM_001145903		Approved		uc011hbs.1	P06681	OTTHUMG00000031190	ENST00000299367.5:c.1799G>A	6.37:g.31911759G>A	ENSP00000299367:p.Cys600Tyr	110.0	0.0		135.0	19.0	NM_000063	B4DPF3|B4DV20|E9PFN7|O19694|Q13904	Missense_Mutation	SNP	ENST00000299367.5	37	CCDS4728.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.3|21.3	4.122491|4.122491	0.77436|0.77436	.|.	.|.	ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000243649;ENSG00000244255;ENSG00000244255|ENSG00000166278	ENST00000469372;ENST00000497706;ENST00000452323;ENST00000299367;ENST00000375493;ENST00000442278;ENST00000556679;ENST00000456570;ENST00000477310|ENST00000383177	T;T;T;T;T;T;T;T|.	0.35048|.	1.33;1.33;1.33;1.33;1.33;1.33;1.33;1.33|.	5.21|5.21	5.21|5.21	0.72293|0.72293	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);|.	0.000000|.	0.41194|.	D|.	0.000935|.	T|T	0.75824|0.75824	0.3902|0.3902	M|M	0.88512|0.88512	2.96|2.96	0.39187|0.39187	D|D	0.962896|0.962896	D;D;D;D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D;D;D;D|.	0.97110|.	1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0|.	T|T	0.80605|0.80605	-0.1308|-0.1308	10|5	0.87932|.	D|.	0|.	-14.3006|-14.3006	14.2644|14.2644	0.66107|0.66107	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	447;571;386;354;468;285;468;600;387|.	B4E1Z4;B4DV48;B4DPF3;B4DQI1;E9PFN7;F8VNY6;B4DV20;P06681;E9PDZ0|.	.;.;.;.;.;.;.;CO2_HUMAN;.|.	Y|I	354;387;386;600;285;468;447;447;371|374	ENSP00000418923:C354Y;ENSP00000417482:C387Y;ENSP00000392322:C386Y;ENSP00000299367:C600Y;ENSP00000395683:C468Y;ENSP00000451848:C447Y;ENSP00000410815:C447Y;ENSP00000418996:C371Y|.	ENSP00000299367:C600Y|.	C|V	+|+	2|1	0|0	CFB;C2;XXbac-BPG116M5.17|C2	32019738|32019738	1.000000|1.000000	0.71417|0.71417	0.976000|0.976000	0.42696|0.42696	0.978000|0.978000	0.69477|0.69477	5.559000|5.559000	0.67326|0.67326	2.453000|2.453000	0.82957|0.82957	0.563000|0.563000	0.77884|0.77884	TGT|GTA	.		0.612	C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076379.9		
C3orf30	152405	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	118867060	118867060	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr3:118867060T>C	ENST00000295622.1	+	2	1472	c.1432T>C	c.(1432-1434)Tat>Cat	p.Y478H	RP11-484M3.5_ENST00000490594.1_Intron|IGSF11_ENST00000354673.2_5'Flank|IGSF11_ENST00000425327.2_5'Flank|IGSF11_ENST00000441144.2_5'Flank	NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	478										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		AGGAAAGGGTTATCATATACG	0.368																																					p.Y478H		.											.	C3orf30	92	0			c.T1432C						.						84.0	90.0	88.0					3																	118867060		2203	4300	6503	SO:0001583	missense	152405	exon2			AAGGGTTATCATA	AK057421	CCDS2984.1	3q13.32	2011-08-09			ENSG00000163424	ENSG00000163424			26553	protein-coding gene	gene with protein product							Standard	NM_152539		Approved	FLJ32859	uc003ecb.1	Q96M34	OTTHUMG00000159349	ENST00000295622.1:c.1432T>C	3.37:g.118867060T>C	ENSP00000295622:p.Tyr478His	98.0	0.0		134.0	18.0	NM_152539	A1L4B7	Missense_Mutation	SNP	ENST00000295622.1	37	CCDS2984.1	.	.	.	.	.	.	.	.	.	.	T	11.87	1.769112	0.31320	.	.	ENSG00000163424	ENST00000295622;ENST00000470341	T	0.12672	2.66	3.71	1.33	0.21861	.	1.417150	0.04833	N	0.439075	T	0.18635	0.0447	L	0.36672	1.1	0.09310	N	1	P;D	0.59767	0.845;0.986	B;P	0.53861	0.41;0.736	T	0.17868	-1.0355	10	0.34782	T	0.22	0.0439	5.2338	0.15436	0.0:0.2404:0.0:0.7596	.	478;478	E9PFE5;Q96M34	.;CC030_HUMAN	H	478	ENSP00000295622:Y478H	ENSP00000295622:Y478H	Y	+	1	0	C3orf30	120349750	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.027000	0.13621	0.281000	0.22233	0.533000	0.62120	TAT	.		0.368	C3orf30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354838.1	NM_152539	
PQLC2L	152078	broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	157296101	157296101	+	Intron	SNP	C	C	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr3:157296101C>T	ENST00000449199.2	+	4	443				C3orf55_ENST00000312275.5_Silent_p.F112F|C3orf55_ENST00000459838.1_3'UTR|C3orf55_ENST00000426338.2_Intron|C3orf55_ENST00000461040.1_Intron	NM_001130002.2	NP_001123474.1	A1A4F0	CC055_HUMAN												breast(1)|lung(1)	2			Lung(72;0.0215)|LUSC - Lung squamous cell carcinoma(72;0.037)			AACTTCATTTCTGCTGTTTGC	0.408																																					p.F112F		.											.	.	.	0			c.C336T						.						207.0	193.0	197.0					3																	157296101		1940	4137	6077	SO:0001627	intron_variant	152078	exon5			TCATTTCTGCTGT																												ENST00000449199.2:c.302+6269C>T	3.37:g.157296101C>T		269.0	2.0		241.0	77.0	NM_001099777	C9JP04|C9JXB5|Q8N6Q6	Silent	SNP	ENST00000449199.2	37	CCDS46943.1																																																																																			.		0.408	C3orf55-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352018.1		
C6orf118	168090	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	165715083	165715083	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr6:165715083G>A	ENST00000230301.8	-	2	748	c.728C>T	c.(727-729)gCg>gTg	p.A243V	C6orf118_ENST00000543069.1_Missense_Mutation_p.A139V	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	243										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		CTCGTGGCCCGCGGCCGCCTT	0.607																																					p.A243V		.											.	C6orf118	90	0			c.C728T						.						51.0	53.0	52.0					6																	165715083		2203	4300	6503	SO:0001583	missense	168090	exon2			TGGCCCGCGGCCG		CCDS5288.1	6q27	2012-02-06			ENSG00000112539	ENSG00000112539			21233	protein-coding gene	gene with protein product							Standard	NM_144980		Approved	MGC23884, bA85G2.1	uc003qum.4	Q5T5N4	OTTHUMG00000015984	ENST00000230301.8:c.728C>T	6.37:g.165715083G>A	ENSP00000230301:p.Ala243Val	109.0	0.0		122.0	14.0	NM_144980	Q8TC11	Missense_Mutation	SNP	ENST00000230301.8	37	CCDS5288.1	.	.	.	.	.	.	.	.	.	.	G	7.212	0.595566	0.13875	.	.	ENSG00000112539	ENST00000230301;ENST00000543069	T;T	0.14266	2.52;2.52	4.92	-9.85	0.00476	.	3.383220	0.00839	N	0.001730	T	0.00724	0.0024	N	0.00841	-1.15	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.33803	-0.9854	10	0.28530	T	0.3	0.9594	2.604	0.04873	0.117:0.1644:0.326:0.3926	.	243	Q5T5N4	CF118_HUMAN	V	243;139	ENSP00000230301:A243V;ENSP00000439288:A139V	ENSP00000230301:A243V	A	-	2	0	C6orf118	165635073	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.152000	0.01288	-3.367000	0.00178	-2.617000	0.00157	GCG	.		0.607	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043026.1	NM_144980	
C7orf60	154743	broad.mit.edu;mdanderson.org	37	7	112579749	112579749	+	Silent	SNP	C	C	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr7:112579749C>T	ENST00000297145.4	-	1	222	c.57G>A	c.(55-57)ccG>ccA	p.P19P	C7orf60_ENST00000485446.1_5'Flank	NM_152556.2	NP_689769.2	Q1RMZ1	BMT2_HUMAN	chromosome 7 open reading frame 60	19							rRNA (adenine) methyltransferase activity (GO:0016433)			breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						GCGGAGTGTTCGGGGACCCGG	0.721																																					p.P19P		.											.	C7orf60	93	0			c.G57A						.						24.0	27.0	26.0					7																	112579749		1869	4094	5963	SO:0001819	synonymous_variant	154743	exon1			AGTGTTCGGGGAC		CCDS43634.1	7q31.1	2011-01-11	2008-06-19		ENSG00000164603	ENSG00000164603			26475	protein-coding gene	gene with protein product	"""hypothetical protein FLJ31818"""						Standard	NM_152556		Approved	DKFZp762M126, FLJ31818	uc003vgo.1	Q1RMZ1	OTTHUMG00000155233	ENST00000297145.4:c.57G>A	7.37:g.112579749C>T		34.0	0.0		31.0	6.0	NM_152556	Q8N3D0|Q96MV7	Silent	SNP	ENST00000297145.4	37	CCDS43634.1																																																																																			.		0.721	C7orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338923.1	NM_152556	
CACNA1B	774	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	9	140880973	140880973	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr9:140880973delG	ENST00000371372.1	+	14	2023	c.1878delG	c.(1876-1878)ctgfs	p.L626fs	CACNA1B_ENST00000371357.1_Frame_Shift_Del_p.L627fs|CACNA1B_ENST00000277551.2_Frame_Shift_Del_p.L626fs|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371363.1_Frame_Shift_Del_p.L626fs|CACNA1B_ENST00000371355.4_Frame_Shift_Del_p.L627fs	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	626					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	TCGCCCTGCTGGGGATGCAGC	0.612																																					p.L626fs		.											.	CACNA1B	138	0			c.1878delG						.						52.0	54.0	53.0					9																	140880973		2065	4229	6294	SO:0001589	frameshift_variant	774	exon14			CCTGCTGGGGATG	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.1878delG	9.37:g.140880973delG	ENSP00000360423:p.Leu626fs	166.0	0.0		186.0	62.0	NM_001243812	B1AQK5	Frame_Shift_Del	DEL	ENST00000371372.1	37	CCDS59522.1																																																																																			.		0.612	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718	
CACNA1E	777	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	181706682	181706682	+	Silent	SNP	C	C	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr1:181706682C>T	ENST00000367573.2	+	23	3444	c.3444C>T	c.(3442-3444)taC>taT	p.Y1148Y	CACNA1E_ENST00000526775.1_Silent_p.Y1129Y|CACNA1E_ENST00000358338.5_Silent_p.Y1080Y|CACNA1E_ENST00000367567.4_Silent_p.Y755Y|CACNA1E_ENST00000360108.3_Silent_p.Y1129Y|CACNA1E_ENST00000367570.1_Silent_p.Y1148Y|CACNA1E_ENST00000357570.5_Silent_p.Y1099Y	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1148					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CCTGCCACTACATCGTGAACC	0.627																																					p.Y1148Y		.											.	CACNA1E	95	0			c.C3444T						.						59.0	67.0	64.0					1																	181706682		2114	4225	6339	SO:0001819	synonymous_variant	777	exon23			CCACTACATCGTG	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.3444C>T	1.37:g.181706682C>T		173.0	0.0		259.0	28.0	NM_001205293	B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP	ENST00000367573.2	37	CCDS55664.1																																																																																			.		0.627	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721	
CASC5	57082	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	40920293	40920293	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr15:40920293A>G	ENST00000346991.5	+	12	5870	c.5480A>G	c.(5479-5481)gAt>gGt	p.D1827G	CASC5_ENST00000399668.2_Missense_Mutation_p.D1801G			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	1827					acrosome assembly (GO:0001675)|attachment of spindle microtubules to kinetochore (GO:0008608)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|nucleosome assembly (GO:0006334)|protein localization to kinetochore (GO:0034501)|spindle assembly checkpoint (GO:0071173)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		ACTGAAGAGGATATAGATAAA	0.358																																					p.D1827G		.											.	CASC5	660	0			c.A5480G						.						84.0	87.0	86.0					15																	40920293		1819	4084	5903	SO:0001583	missense	57082	exon12			AAGAGGATATAGA	AF173994	CCDS42023.1, CCDS42024.1	15q14	2013-07-03			ENSG00000137812	ENSG00000137812		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	24054	protein-coding gene	gene with protein product	"""cancer/testis antigen 29"", ""kinetochore null 1 homolog (C. elegans)"", ""blinkin, bub-linking kinetochore protein"", ""protein phosphatase 1, regulatory subunit 55"""	609173				10980622, 10780384, 18045986	Standard	NM_170589		Approved	D40, AF15Q14, CT29, hKNL-1, KNL1, hSpc105, PPP1R55, Spc7	uc010bbt.1	Q8NG31	OTTHUMG00000166532	ENST00000346991.5:c.5480A>G	15.37:g.40920293A>G	ENSP00000335463:p.Asp1827Gly	113.0	0.0		89.0	17.0	NM_170589	Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Missense_Mutation	SNP	ENST00000346991.5	37	CCDS42023.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.14|11.14	1.550390|1.550390	0.27739|0.27739	.|.	.|.	ENSG00000137812|ENSG00000137812	ENST00000346991;ENST00000399668|ENST00000532406	T;T|.	0.05580|.	3.42;3.42|.	5.49|5.49	3.15|3.15	0.36227|0.36227	.|.	0.842583|.	0.10359|.	N|.	0.684210|.	T|T	0.35799|0.35799	0.0944|0.0944	L|L	0.40543|0.40543	1.245|1.245	0.09310|0.09310	N|N	1|1	B;B|.	0.29646|.	0.253;0.253|.	B;B|.	0.25291|.	0.059;0.059|.	T|T	0.22138|0.22138	-1.0225|-1.0225	10|5	0.33940|.	T|.	0.23|.	.|.	6.819|6.819	0.23847|0.23847	0.6374:0.2864:0.0762:0.0|0.6374:0.2864:0.0762:0.0	.|.	1801;1827|.	Q8NG31-2;Q8NG31|.	.;CASC5_HUMAN|.	G|V	1827;1801|8	ENSP00000335463:D1827G;ENSP00000382576:D1801G|.	ENSP00000335463:D1827G|.	D|I	+|+	2|1	0|0	CASC5|CASC5	38707585|38707585	0.000000|0.000000	0.05858|0.05858	0.122000|0.122000	0.21767|0.21767	0.983000|0.983000	0.72400|0.72400	0.589000|0.589000	0.23939|0.23939	0.373000|0.373000	0.24621|0.24621	0.529000|0.529000	0.55759|0.55759	GAT|ATA	.		0.358	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390224.2	NM_144508	
CASP8AP2	9994	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	90581017	90581017	+	RNA	SNP	C	C	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr6:90581017C>T	ENST00000551025.1	+	0	7239									caspase 8 associated protein 2											NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		GAAATGATGACCGGGAAATTT	0.368																																					p.D1934D	Colon(187;1656 2025 17045 31481 39901)	.											.	CASP8AP2	24	0			c.C5802T						.						74.0	71.0	72.0					6																	90581017		1798	4066	5864			9994	exon9			TGATGACCGGGAA	AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"""FLICE-associated huge protein"""	606880	"""CASP8 associated protein 2"""			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90581017C>T		161.0	0.0		121.0	23.0	NM_001137667		Silent	SNP	ENST00000551025.1	37																																																																																				.		0.368	CASP8AP2-202	KNOWN	basic	processed_transcript	processed_transcript		NM_001137667	
CATSPERD	257062	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	5766134	5766134	+	Silent	SNP	C	C	G			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr19:5766134C>G	ENST00000381624.3	+	17	1588	c.1527C>G	c.(1525-1527)ggC>ggG	p.G509G	CATSPERD_ENST00000309164.7_3'UTR|CATSPERD_ENST00000381614.2_Silent_p.G167G	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	509					multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)											TTTCAGTTGGCTGCGACCTGG	0.537																																					p.G509G		.											.	.	.	0			c.C1527G						.						119.0	111.0	113.0					19																	5766134		1980	4155	6135	SO:0001819	synonymous_variant	257062	exon17			AGTTGGCTGCGAC	BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"""transmembrane protein 146"""	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.1527C>G	19.37:g.5766134C>G		124.0	0.0		157.0	22.0	NM_152784	Q6ZRP1	Silent	SNP	ENST00000381624.3	37	CCDS12149.2																																																																																			.		0.537	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286953.2	NM_152784	
CCDC110	256309	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	186366663	186366663	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr4:186366663T>A	ENST00000307588.3	-	7	2570	c.2495A>T	c.(2494-2496)cAt>cTt	p.H832L	C4orf47_ENST00000378850.4_Intron|CCDC110_ENST00000393540.3_Missense_Mutation_p.H795L	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	832						nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		ATCCTAATGATGCTTGAGAGT	0.308																																					p.H832L		.											.	CCDC110	90	0			c.A2495T						.						94.0	94.0	94.0					4																	186366663		2203	4300	6503	SO:0001583	missense	256309	exon7			TAATGATGCTTGA	AB080722	CCDS3843.1, CCDS47170.1	4q35.1	2010-12-24			ENSG00000168491	ENSG00000168491			28504	protein-coding gene	gene with protein product	"""cancer/testis antigen 52"""	609488				18160854	Standard	NM_152775		Approved	KM-HN-1, MGC33607, CT52	uc003ixu.4	Q8TBZ0	OTTHUMG00000160415	ENST00000307588.3:c.2495A>T	4.37:g.186366663T>A	ENSP00000306776:p.His832Leu	33.0	0.0		31.0	7.0	NM_152775	Q86YI9|Q8N7W0	Missense_Mutation	SNP	ENST00000307588.3	37	CCDS3843.1	.	.	.	.	.	.	.	.	.	.	T	16.05	3.012950	0.54468	.	.	ENSG00000168491	ENST00000393540;ENST00000307588	T;T	0.07021	3.23;3.24	3.11	-1.6	0.08426	.	2.526390	0.02211	N	0.063204	T	0.08980	0.0222	L	0.40543	1.245	0.09310	N	1	B;B	0.21606	0.058;0.058	B;B	0.17098	0.017;0.017	T	0.41342	-0.9514	10	0.87932	D	0	9.5423	7.001	0.24809	0.0:0.4395:0.0:0.5605	.	795;832	Q8TBZ0-2;Q8TBZ0	.;CC110_HUMAN	L	795;832	ENSP00000377172:H795L;ENSP00000306776:H832L	ENSP00000306776:H832L	H	-	2	0	CCDC110	186603657	0.000000	0.05858	0.000000	0.03702	0.402000	0.30811	-1.131000	0.03238	-0.389000	0.07786	0.383000	0.25322	CAT	.		0.308	CCDC110-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360519.2	NM_152775	
CCDC132	55610	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	92905597	92905597	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr7:92905597C>A	ENST00000305866.5	+	12	1050	c.922C>A	c.(922-924)Caa>Aaa	p.Q308K	CCDC132_ENST00000251739.5_Missense_Mutation_p.Q308K|CCDC132_ENST00000317751.6_Missense_Mutation_p.Q39K|CCDC132_ENST00000541136.1_Missense_Mutation_p.Q119K|CCDC132_ENST00000544910.1_Missense_Mutation_p.Q278K|CCDC132_ENST00000535481.1_Intron	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	308						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)		p.Q308*(2)		endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			CCAAAAGCTGCAATATAAGGA	0.343																																					p.Q308K		.											.	CCDC132	90	2	Substitution - Nonsense(2)	lung(2)	c.C922A						.						144.0	136.0	139.0					7																	92905597		2203	4300	6503	SO:0001583	missense	55610	exon12			AAGCTGCAATATA	AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.922C>A	7.37:g.92905597C>A	ENSP00000307666:p.Gln308Lys	113.0	0.0		122.0	27.0	NM_024553	B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Missense_Mutation	SNP	ENST00000305866.5	37	CCDS43617.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.70|11.70	1.715847|1.715847	0.30413|0.30413	.|.	.|.	ENSG00000004766|ENSG00000004766	ENST00000458707|ENST00000251739;ENST00000305866;ENST00000544910;ENST00000541136;ENST00000317751	.|T	.|0.43688	.|0.94	5.6|5.6	5.6|5.6	0.85130|0.85130	.|Vacuolar protein sorting-associated protein 54 (1);	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.40015	.|0.1100	M|M	0.65498|0.65498	2.005|2.005	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.33266	.|0.135;0.08;0.404	.|B;B;B	.|0.29440	.|0.051;0.058;0.102	.|T	.|0.42899	.|-0.9424	.|10	.|0.02654	.|T	.|1	-30.2354|-30.2354	19.9884|19.9884	0.97356|0.97356	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|278;308;308	.|F5H5U7;Q96JG6;Q96JG6-2	.|.;CC132_HUMAN;.	X|K	94|308;308;278;119;39	.|ENSP00000325582:Q39K	.|ENSP00000251739:Q308K	C|Q	+|+	3|1	2|0	CCDC132|CCDC132	92743533|92743533	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.770000|7.770000	0.85390|0.85390	2.809000|2.809000	0.96659|0.96659	0.655000|0.655000	0.94253|0.94253	TGC|CAA	.		0.343	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341687.1	NM_017667	
CCDC136	64753	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	128445575	128445575	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr7:128445575C>A	ENST00000297788.4	+	6	1312	c.945C>A	c.(943-945)aaC>aaA	p.N315K	CCDC136_ENST00000378685.4_Missense_Mutation_p.N353K|CCDC136_ENST00000464832.1_Missense_Mutation_p.N365K|CCDC136_ENST00000487361.1_Missense_Mutation_p.N315K	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	315	Glu-rich.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						GCATGAAGAACAAGGTAGGGC	0.498																																					p.N353K		.											.	CCDC136	24	0			c.C1059A						.						142.0	146.0	144.0					7																	128445575		2041	4194	6235	SO:0001583	missense	64753	exon7			GAAGAACAAGGTA		CCDS47704.1, CCDS56510.1	7q33	2007-08-01			ENSG00000128596	ENSG00000128596			22225	protein-coding gene	gene with protein product		611902				15112360	Standard	NM_022742		Approved	KIAA1793, NAG6, DKFZP434G156	uc003vnv.2	Q96JN2	OTTHUMG00000158310	ENST00000297788.4:c.945C>A	7.37:g.128445575C>A	ENSP00000297788:p.Asn315Lys	84.0	1.0		77.0	20.0	NM_001201372	A4D1K1|A7MCY7|A8MYA7|Q6ZVK7|Q9H8M3|Q9UFE1	Missense_Mutation	SNP	ENST00000297788.4	37	CCDS47704.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.012|0.012	-1.686136|-1.686136	0.00738|0.00738	.|.	.|.	ENSG00000128596|ENSG00000128596	ENST00000378685;ENST00000464832;ENST00000487361;ENST00000297788;ENST00000397697;ENST00000320524|ENST00000494552	T;T;T;T|.	0.77750|.	1.17;1.2;-1.12;1.73|.	5.67|5.67	1.3|1.3	0.21679|0.21679	.|.	0.585753|.	0.20701|.	N|.	0.087280|.	T|T	0.18215|0.18215	0.0437|0.0437	N|N	0.12182|0.12182	0.205|0.205	0.22034|0.22034	N|N	0.999407|0.999407	B;B;B|.	0.23249|.	0.004;0.082;0.001|.	B;B;B|.	0.25140|.	0.008;0.058;0.002|.	T|T	0.27297|0.27297	-1.0078|-1.0078	10|5	0.06757|.	T|.	0.87|.	-1.9056|-1.9056	5.81|5.81	0.18462|0.18462	0.0:0.5835:0.1386:0.278|0.0:0.5835:0.1386:0.278	.|.	315;315;353|.	C9JE17;Q96JN2;Q96JN2-3|.	.;CC136_HUMAN;.|.	K|K	353;365;315;315;315;315|192	ENSP00000367956:N353K;ENSP00000419515:N365K;ENSP00000420509:N315K;ENSP00000297788:N315K|.	ENSP00000297788:N315K|.	N|T	+|+	3|2	2|0	CCDC136|CCDC136	128232811|128232811	0.015000|0.015000	0.18098|0.18098	0.273000|0.273000	0.24645|0.24645	0.068000|0.068000	0.16541|0.16541	-0.231000|-0.231000	0.09069|0.09069	-0.044000|-0.044000	0.13491|0.13491	-0.150000|-0.150000	0.13652|0.13652	AAC|ACA	.		0.498	CCDC136-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350641.1	NM_022742	
CCDC142	84865	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	2	74707914	74707914	+	Silent	SNP	C	C	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr2:74707914C>T	ENST00000393965.3	-	5	1881	c.1485G>A	c.(1483-1485)aaG>aaA	p.K495K	CCDC142_ENST00000290418.4_Silent_p.K488K|CCDC142_ENST00000471713.1_5'UTR|TTC31_ENST00000442235.2_5'Flank|TTC31_ENST00000410003.1_5'Flank|TTC31_ENST00000233623.5_5'Flank	NM_032779.3	NP_116168.3	Q17RM4	CC142_HUMAN	coiled-coil domain containing 142	495										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						GTGCAGTCAGCTTCTGGATCT	0.537																																					p.K488K		.											.	CCDC142	68	0			c.G1464A						.						70.0	68.0	69.0					2																	74707914		2203	4300	6503	SO:0001819	synonymous_variant	84865	exon5			AGTCAGCTTCTGG	AK075543	CCDS1945.1	2p13.1	2008-02-05			ENSG00000135637	ENSG00000135637			25889	protein-coding gene	gene with protein product							Standard	NM_032779		Approved	FLJ14397	uc002slq.3	Q17RM4	OTTHUMG00000129962	ENST00000393965.3:c.1485G>A	2.37:g.74707914C>T		205.0	0.0		251.0	24.0	NM_032779	B7ZKV5|Q8NBJ3|Q8NBV2|Q96KA7	Silent	SNP	ENST00000393965.3	37																																																																																				.		0.537	CCDC142-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000328391.1	NM_032779	
CCDC150	284992	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	197521532	197521532	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr2:197521532A>T	ENST00000389175.4	+	3	487	c.352A>T	c.(352-354)Atc>Ttc	p.I118F	CCDC150_ENST00000272831.7_Intron|CCDC150_ENST00000423093.2_Intron|CCDC150_ENST00000472405.2_Missense_Mutation_p.I15F	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	118										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GAAGATGAACATCTTTCGGCT	0.378																																					p.I118F		.											.	.	.	0			c.A352T						.						107.0	104.0	105.0					2																	197521532		1866	4100	5966	SO:0001583	missense	284992	exon3			ATGAACATCTTTC		CCDS46478.1	2q33.1	2008-04-10			ENSG00000144395	ENSG00000144395			26834	protein-coding gene	gene with protein product							Standard	NM_001080539		Approved	FLJ39660	uc002utp.1	Q8NCX0	OTTHUMG00000154475	ENST00000389175.4:c.352A>T	2.37:g.197521532A>T	ENSP00000373827:p.Ile118Phe	62.0	0.0		98.0	26.0	NM_001080539	Q6P5U6|Q6P663|Q8N8V5	Missense_Mutation	SNP	ENST00000389175.4	37	CCDS46478.1	.	.	.	.	.	.	.	.	.	.	A	11.63	1.696480	0.30142	.	.	ENSG00000144395	ENST00000389175;ENST00000536389;ENST00000472405	T;T	0.30448	1.53;1.53	4.93	4.93	0.64822	.	0.184719	0.38436	N	0.001687	T	0.48554	0.1506	M	0.65975	2.015	0.80722	D	1	P;D	0.76494	0.566;0.999	B;D	0.80764	0.15;0.994	T	0.44050	-0.9353	10	0.37606	T	0.19	-6.877	8.3768	0.32447	0.9113:0.0:0.0887:0.0	.	118;118	Q8NCX0;F5H6M2	CC150_HUMAN;.	F	118;118;15	ENSP00000373827:I118F;ENSP00000441149:I15F	ENSP00000373827:I118F	I	+	1	0	CCDC150	197229777	1.000000	0.71417	0.998000	0.56505	0.674000	0.39518	1.738000	0.38207	2.082000	0.62665	0.533000	0.62120	ATC	.		0.378	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335377.2	NM_001080539	
CCDC22	28952	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	X	49103272	49103272	+	Silent	SNP	C	C	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chrX:49103272C>T	ENST00000376227.3	+	7	965	c.795C>T	c.(793-795)gcC>gcT	p.A265A		NM_014008.3	NP_054727.1	O60826	CCD22_HUMAN	coiled-coil domain containing 22	265										NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	18						TGCTTGGGGCCCCCATACAAG	0.657																																					p.A265A		.											.	CCDC22	130	0			c.C795T						.						16.0	14.0	15.0					X																	49103272		2178	4270	6448	SO:0001819	synonymous_variant	28952	exon7			TGGGGCCCCCATA	BC000972	CCDS14322.1	Xp11.23	2008-02-05	2005-07-24	2005-07-24	ENSG00000101997	ENSG00000101997			28909	protein-coding gene	gene with protein product		300859	"""chromosome X open reading frame 37"""	CXorf37		12477932	Standard	NM_014008		Approved	JM1	uc004dnd.2	O60826	OTTHUMG00000024141	ENST00000376227.3:c.795C>T	X.37:g.49103272C>T		45.0	0.0		33.0	8.0	NM_014008	A8K7G1	Silent	SNP	ENST00000376227.3	37	CCDS14322.1																																																																																			.		0.657	CCDC22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060822.1	NM_014008	
CCDC34	91057	broad.mit.edu;mdanderson.org	37	11	27384586	27384586	+	Silent	SNP	C	C	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr11:27384586C>A	ENST00000328697.6	-	1	829	c.156G>T	c.(154-156)tcG>tcT	p.S52S	CCDC34_ENST00000317945.6_Silent_p.S52S	NM_030771.1	NP_110398.1	Q96HJ3	CCD34_HUMAN	coiled-coil domain containing 34	52										endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|urinary_tract(1)	9						GCAGCGGCGGCGACGGCGAGC	0.677																																					p.S52S		.											.	CCDC34	90	0			c.G156T						.						68.0	65.0	66.0					11																	27384586		2202	4299	6501	SO:0001819	synonymous_variant	91057	exon1			CGGCGGCGACGGC	AF382034	CCDS7863.1, CCDS31448.1	11p14.1	2010-03-30			ENSG00000109881	ENSG00000109881			25079	protein-coding gene	gene with protein product		612324				11173847	Standard	NM_080654		Approved	NY-REN-41, L15, RAMA3	uc001mrh.1	Q96HJ3	OTTHUMG00000166211	ENST00000328697.6:c.156G>T	11.37:g.27384586C>A		54.0	0.0		55.0	8.0	NM_030771	B2R8G2|Q8IX69|Q9H2A6|Q9Y599	Silent	SNP	ENST00000328697.6	37	CCDS31448.1																																																																																			.		0.677	CCDC34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388396.2	NM_030771	
CCNB3	85417	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	50037910	50037910	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chrX:50037910G>C	ENST00000376042.1	+	5	550	c.252G>C	c.(250-252)gaG>gaC	p.E84D	CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.E84D|CCNB3_ENST00000376038.1_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	84					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					CCAATAAAGAGTTTGTAAAAG	0.438																																					p.E84D		.											.	CCNB3	482	0			c.G252C						.						95.0	84.0	88.0					X																	50037910		2203	4300	6503	SO:0001583	missense	85417	exon4			TAAAGAGTTTGTA	AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.252G>C	X.37:g.50037910G>C	ENSP00000365210:p.Glu84Asp	213.0	0.0		191.0	38.0	NM_033031	B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Missense_Mutation	SNP	ENST00000376042.1	37	CCDS14331.1	.	.	.	.	.	.	.	.	.	.	G	9.184	1.024223	0.19433	.	.	ENSG00000147082	ENST00000376042;ENST00000396540;ENST00000276014	T;T	0.12569	2.67;2.67	3.57	1.79	0.24919	.	.	.	.	.	T	0.24275	0.0588	L	0.46157	1.445	0.09310	N	1	D	0.76494	0.999	D	0.75484	0.986	T	0.08269	-1.0730	8	.	.	.	.	5.1347	0.14928	0.2813:0.0:0.7187:0.0	.	84	Q8WWL7	CCNB3_HUMAN	D	84	ENSP00000365210:E84D;ENSP00000276014:E84D	.	E	+	3	2	CCNB3	50054650	0.363000	0.24989	0.034000	0.17996	0.036000	0.12997	0.489000	0.22387	0.345000	0.23873	0.591000	0.81541	GAG	.		0.438	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1		
CCR7	1236	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	38711491	38711491	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr17:38711491T>C	ENST00000246657.2	-	3	702	c.640A>G	c.(640-642)Aca>Gca	p.T214A	CCR7_ENST00000579344.1_Missense_Mutation_p.T208A	NM_001838.3	NP_001829.1	P32248	CCR7_HUMAN	chemokine (C-C motif) receptor 7	214					activation of Rho GTPase activity (GO:0032862)|cellular response to cytokine stimulus (GO:0071345)|chemokine (C-C motif) ligand 19 signaling pathway (GO:0038115)|chemokine (C-C motif) ligand 21 signaling pathway (GO:0038116)|chemokine-mediated signaling pathway (GO:0070098)|dendritic cell chemotaxis (GO:0002407)|establishment of T cell polarity (GO:0001768)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-12 secretion (GO:0072610)|lymphocyte migration into lymph node (GO:0097022)|mature dendritic cell differentiation (GO:0097029)|myeloid dendritic cell chemotaxis (GO:0002408)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative thymic T cell selection (GO:0045060)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell motility (GO:2000147)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of glycoprotein biosynthetic process involved in immunological synapse formation (GO:2000526)|positive regulation of humoral immune response (GO:0002922)|positive regulation of hypersensitivity (GO:0002885)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of immunological synapse formation (GO:2000522)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of T cell costimulation (GO:2000525)|positive regulation of T cell receptor signaling pathway (GO:0050862)|regulation of dendritic cell dendrite assembly (GO:2000547)|regulation of interferon-gamma production (GO:0032649)|regulation of interleukin-1 beta secretion (GO:0050706)|release of sequestered calcium ion into cytosol (GO:0051209)|response to lipopolysaccharide (GO:0032496)|response to nitric oxide (GO:0071731)|response to prostaglandin E (GO:0034695)|ruffle organization (GO:0031529)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|C-C motif chemokine 19 receptor activity (GO:0038117)|C-C motif chemokine 21 receptor activity (GO:0038121)|chemokine (C-C motif) ligand 19 binding (GO:0035757)|chemokine (C-C motif) ligand 21 binding (GO:0035758)|G-protein coupled receptor activity (GO:0004930)			breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		Breast(137;0.000496)				ACATGCTCTGTGATGAGAGAG	0.557																																					p.T214A		.											.	CCR7	659	0			c.A640G						.						76.0	67.0	70.0					17																	38711491		2203	4300	6503	SO:0001583	missense	1236	exon3			GCTCTGTGATGAG		CCDS11369.1	17q12-q21.2	2012-08-08			ENSG00000126353	ENSG00000126353		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1608	protein-coding gene	gene with protein product		600242		CMKBR7, EBI1		8383238	Standard	NM_001838		Approved	BLR2, CDw197, CD197	uc002huw.3	P32248	OTTHUMG00000133375	ENST00000246657.2:c.640A>G	17.37:g.38711491T>C	ENSP00000246657:p.Thr214Ala	135.0	0.0		205.0	28.0	NM_001838		Missense_Mutation	SNP	ENST00000246657.2	37	CCDS11369.1	.	.	.	.	.	.	.	.	.	.	T	5.552	0.286694	0.10513	.	.	ENSG00000126353	ENST00000246657	T	0.36340	1.26	5.31	1.69	0.24217	GPCR, rhodopsin-like superfamily (1);	0.684502	0.14082	N	0.342628	T	0.18551	0.0445	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.13407	0.009	T	0.21280	-1.0250	10	0.25106	T	0.35	.	2.8001	0.05412	0.1484:0.0963:0.4532:0.3021	.	214	P32248	CCR7_HUMAN	A	214	ENSP00000246657:T214A	ENSP00000246657:T214A	T	-	1	0	CCR7	35965017	0.002000	0.14202	0.001000	0.08648	0.916000	0.54674	0.523000	0.22925	0.089000	0.17243	0.459000	0.35465	ACA	.		0.557	CCR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257222.1		
CCSER2	54462	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	86131874	86131874	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr10:86131874G>C	ENST00000224756.8	+	2	1251	c.1066G>C	c.(1066-1068)Gct>Cct	p.A356P	CCSER2_ENST00000359979.4_Missense_Mutation_p.A356P|CCSER2_ENST00000372088.2_Missense_Mutation_p.A356P	NM_001284243.1|NM_018999.2	NP_001271172.1|NP_061872.2	Q9H7U1	CCSE2_HUMAN	coiled-coil serine-rich protein 2	356					microtubule bundle formation (GO:0001578)	microtubule cytoskeleton (GO:0015630)											TACAGTTTTGGCTAAGGACAG	0.373																																					p.A356P		.											.	.	.	0			c.G1066C						.						104.0	103.0	103.0					10																	86131874		2203	4300	6503	SO:0001583	missense	54462	exon2			GTTTTGGCTAAGG		CCDS31235.1, CCDS60582.1, CCDS60583.1, CCDS73159.1	10q23.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000107771	ENSG00000107771			29197	protein-coding gene	gene with protein product			"""KIAA1128"", ""family with sequence similarity 190, member B"""	KIAA1128, FAM190B		10574461	Standard	XM_005269905		Approved		uc001kdh.1	Q9H7U1	OTTHUMG00000018641	ENST00000224756.8:c.1066G>C	10.37:g.86131874G>C	ENSP00000224756:p.Ala356Pro	104.0	0.0		142.0	23.0	NM_018999	B4DFY4|B4DQU9|B7WPE8|D3DWE2|Q8N6E9|Q9H2S0|Q9ULU1	Missense_Mutation	SNP	ENST00000224756.8	37	CCDS31235.1	.	.	.	.	.	.	.	.	.	.	G	10.75	1.437135	0.25900	.	.	ENSG00000107771	ENST00000359979;ENST00000224756;ENST00000372088	T;T;T	0.55588	0.51;1.86;1.86	5.73	-0.0679	0.13758	.	0.578352	0.16610	N	0.206949	T	0.41488	0.1161	L	0.44542	1.39	0.09310	N	1	P;B;P	0.46220	0.874;0.437;0.874	B;B;P	0.44990	0.369;0.189;0.466	T	0.27640	-1.0068	10	0.52906	T	0.07	-1.1022	3.7258	0.08474	0.4805:0.0:0.3444:0.1751	.	356;356;356	Q9H7U1-3;Q9H7U1;Q9H7U1-2	.;F190B_HUMAN;.	P	356	ENSP00000353068:A356P;ENSP00000224756:A356P;ENSP00000361160:A356P	ENSP00000224756:A356P	A	+	1	0	FAM190B	86121854	0.000000	0.05858	0.003000	0.11579	0.878000	0.50629	-0.266000	0.08631	0.381000	0.24851	-0.136000	0.14681	GCT	.		0.373	CCSER2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049132.2	NM_018999	
CDA	978	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	20940334	20940334	+	Splice_Site	SNP	G	G	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr1:20940334G>A	ENST00000375071.3	+	3	448		c.e3-1		CDA_ENST00000461985.1_Intron	NM_001785.2	NP_001776.1	P32320	CDD_HUMAN	cytidine deaminase						cell surface receptor signaling pathway (GO:0007166)|cytidine deamination (GO:0009972)|cytosine metabolic process (GO:0019858)|negative regulation of cell growth (GO:0030308)|negative regulation of nucleotide metabolic process (GO:0045980)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|pyrimidine-containing compound salvage (GO:0008655)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular region (GO:0005576)	cytidine deaminase activity (GO:0004126)|nucleoside binding (GO:0001882)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	7		Lung NSC(340;1.75e-08)|all_lung(284;5.99e-08)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|GBM - Glioblastoma multiforme(114;1.06e-08)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000148)|Kidney(64;0.000184)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.199)	Azacitidine(DB00928)|Capecitabine(DB01101)|Cytarabine(DB00987)|Gemcitabine(DB00441)	TGCTTCCCCAGTGACATGCAA	0.473																																					.	Pancreas(74;49 1356 2772 27818 40529)	.											.	CDA	91	0			c.267-1G>A						.						132.0	110.0	118.0					1																	20940334		2203	4300	6503	SO:0001630	splice_region_variant	978	exon3			TCCCCAGTGACAT	BC054036	CCDS210.1	1p36.2-p35	2008-02-05			ENSG00000158825	ENSG00000158825	3.5.4.5		1712	protein-coding gene	gene with protein product		123920				8422236, 9878810	Standard	NM_001785		Approved	CDD	uc001bdk.3	P32320	OTTHUMG00000002845	ENST00000375071.3:c.267-1G>A	1.37:g.20940334G>A		137.0	0.0		104.0	20.0	NM_001785		Splice_Site	SNP	ENST00000375071.3	37	CCDS210.1	.	.	.	.	.	.	.	.	.	.	G	18.54	3.645639	0.67358	.	.	ENSG00000158825	ENST00000375071	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6118	0.68522	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CDA	20812921	1.000000	0.71417	0.997000	0.53966	0.746000	0.42486	8.114000	0.89570	2.523000	0.85059	0.491000	0.48974	.	.		0.473	CDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007965.1	NM_001785	Intron
CDHR1	92211	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	10	85972935	85972935	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr10:85972935delC	ENST00000372117.3	+	16	1974	c.1871delC	c.(1870-1872)tccfs	p.S624fs	CDHR1_ENST00000332904.3_Frame_Shift_Del_p.S624fs|CDHR1_ENST00000440770.2_Frame_Shift_Del_p.S328fs	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	624	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						GACATCAATTCCCACACGGGG	0.577																																					p.S624fs		.											.	CDHR1	91	0			c.1871delC						.						120.0	106.0	111.0					10																	85972935		2203	4300	6503	SO:0001589	frameshift_variant	92211	exon16			TCAATTCCCACAC	AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"""Cadherins / Cadherin-related"""	14550	protein-coding gene	gene with protein product		609502	"""protocadherin 21"""	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.1871delC	10.37:g.85972935delC	ENSP00000361189:p.Ser624fs	155.0	0.0		164.0	54.0	NM_001171971	Q69YZ8|Q8IXY5	Frame_Shift_Del	DEL	ENST00000372117.3	37	CCDS7372.1																																																																																			.		0.577	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049111.1	NM_033100	
CELSR3	1951	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	48697053	48697053	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	A	A	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr3:48697053A>T	ENST00000164024.4	-	1	3295	c.3015T>A	c.(3013-3015)gaT>gaA	p.D1005E	CELSR3_ENST00000544264.1_Missense_Mutation_p.D1005E	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1005	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CTCCATCCCCATCTTCACCAT	0.542																																					p.D1005E		.											.	CELSR3	523	0			c.T3015A						.						68.0	67.0	67.0					3																	48697053		2203	4300	6503	SO:0001583	missense	1951	exon1			ATCCCCATCTTCA	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.3015T>A	3.37:g.48697053A>T	ENSP00000164024:p.Asp1005Glu	142.0	1.0		113.0	20.0	NM_001407	O75092	Missense_Mutation	SNP	ENST00000164024.4	37	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	G	15.66	2.899454	0.52227	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.61980	0.06;0.06	5.78	1.73	0.24493	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.66867	0.2833	L	0.35288	1.05	0.52501	D	0.999952	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.60959	-0.7159	9	0.40728	T	0.16	.	11.836	0.52323	0.8137:0.0:0.1863:0.0	.	1005;1075	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	E	1005	ENSP00000164024:D1005E;ENSP00000445694:D1005E	ENSP00000164024:D1005E	D	-	3	2	CELSR3	48672057	0.957000	0.32711	0.997000	0.53966	0.952000	0.60782	0.299000	0.19138	-0.124000	0.11724	-1.381000	0.01174	GAT	.		0.542	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407	
CEP250	11190	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	34090341	34090341	+	Silent	SNP	A	A	C	rs151254784	byFrequency	TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	A	A	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr20:34090341A>C	ENST00000397527.1	+	30	4864	c.4144A>C	c.(4144-4146)Aga>Cga	p.R1382R	CEP250_ENST00000342580.4_Silent_p.R1326R	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1382	Gln/Glu-rich.				centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			AGAAGACCTGAGAACGGCTCG	0.577																																					p.R1382R		.											.	CEP250	27	0			c.A4144C						.	A		2,4404	4.2+/-10.8	0,2,2201	35.0	37.0	36.0		4144	0.2	0.8	20	dbSNP_134	36	0,8600		0,0,4300	no	coding-synonymous	CEP250	NM_007186.3		0,2,6501	CC,CA,AA		0.0,0.0454,0.0154		1382/2443	34090341	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	11190	exon30			GACCTGAGAACGG	AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"""centrosomal protein 2"""	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.4144A>C	20.37:g.34090341A>C		137.0	1.0		168.0	26.0	NM_007186	E1P5Q3|O14812|O60588|Q9H450	Silent	SNP	ENST00000397527.1	37	CCDS13255.1																																																																																			A|1.000;C|0.000		0.577	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186	
CEP70	80321	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	3	138256157	138256157	+	Silent	SNP	C	C	A	rs372060625		TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr3:138256157C>A	ENST00000264982.3	-	7	764	c.498G>T	c.(496-498)acG>acT	p.T166T	CEP70_ENST00000478673.1_5'UTR|CEP70_ENST00000484888.1_Silent_p.T166T|CEP70_ENST00000464035.1_Silent_p.T166T|CEP70_ENST00000542237.1_Silent_p.T146T|CEP70_ENST00000489254.1_Silent_p.T14T|CEP70_ENST00000481834.1_Silent_p.T166T	NM_024491.2	NP_077817.2	Q8NHQ1	CEP70_HUMAN	centrosomal protein 70kDa	166					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)		p.T166T(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						CTTCTTGCTCCGTTCGTTTTT	0.343																																					p.T166T		.											.	CEP70	69	1	Substitution - coding silent(1)	central_nervous_system(1)	c.G498T						.						117.0	105.0	109.0					3																	138256157		2202	4300	6502	SO:0001819	synonymous_variant	80321	exon7			TTGCTCCGTTCGT	AF202146	CCDS3102.1, CCDS75022.1, CCDS75023.1, CCDS75024.1	3q22.3	2014-02-20			ENSG00000114107	ENSG00000114107			29972	protein-coding gene	gene with protein product		614310				14654843	Standard	XM_005247802		Approved	BITE, FLJ13036	uc003esl.3	Q8NHQ1	OTTHUMG00000159891	ENST00000264982.3:c.498G>T	3.37:g.138256157C>A		97.0	0.0		92.0	8.0	NM_024491	B7Z5I8|B7Z7E8|D3DNE9|F5GZX8|Q96B31|Q9H2C3|Q9H2Z1|Q9H940	Silent	SNP	ENST00000264982.3	37	CCDS3102.1																																																																																			.		0.343	CEP70-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000358001.1	NM_024491	
CEP89	84902	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	19	33439208	33439208	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr19:33439208C>T	ENST00000305768.5	-	5	647	c.559G>A	c.(559-561)Ggc>Agc	p.G187S	CEP89_ENST00000590597.2_Missense_Mutation_p.G187S	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	187					cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						GGAGGGGAGCCTGGAAACCCA	0.338																																					p.G187S		.											.	CEP89	94	0			c.G559A						.						85.0	69.0	75.0					19																	33439208		2203	4300	6503	SO:0001583	missense	84902	exon5			GGGAGCCTGGAAA	AL832158	CCDS32987.1	19q13.11	2014-02-20	2011-05-06	2011-05-06		ENSG00000121289			25907	protein-coding gene	gene with protein product		615470	"""coiled-coil domain containing 123"""	CCDC123		16395595	Standard	NM_032816		Approved	FLJ14640	uc002nty.3	Q96ST8		ENST00000305768.5:c.559G>A	19.37:g.33439208C>T	ENSP00000306105:p.Gly187Ser	38.0	0.0		59.0	9.0	NM_032816	B9EGA6|Q8N5J8	Missense_Mutation	SNP	ENST00000305768.5	37	CCDS32987.1	.	.	.	.	.	.	.	.	.	.	C	6.064	0.380213	0.11466	.	.	ENSG00000121289	ENST00000305768	T	0.27720	1.65	4.69	1.43	0.22495	.	1.749320	0.02706	N	0.112223	T	0.32071	0.0817	L	0.42245	1.32	0.09310	N	1	P;B;B	0.51537	0.946;0.026;0.361	P;B;B	0.49597	0.616;0.019;0.097	T	0.28170	-1.0052	10	0.07644	T	0.81	-0.2223	6.5477	0.22414	0.0:0.6995:0.0:0.3005	.	158;187;187	Q8WUL5;Q96ST8-3;Q96ST8	.;.;CEP89_HUMAN	S	187	ENSP00000306105:G187S	ENSP00000306105:G187S	G	-	1	0	CEP89	38131048	0.030000	0.19436	0.097000	0.21041	0.125000	0.20455	-0.140000	0.10342	0.301000	0.22738	0.655000	0.94253	GGC	.		0.338	CEP89-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451300.2	NM_032816	
CHD1	1105	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	5	98212136	98212136	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr5:98212136T>C	ENST00000284049.3	-	23	3513	c.3364A>G	c.(3364-3366)Aat>Gat	p.N1122D		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1122					chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	CCTTTAATATTCTCCCGAGGA	0.403																																					p.N1122D		.											.	CHD1	274	0			c.A3364G						.						216.0	217.0	216.0					5																	98212136		2203	4300	6503	SO:0001583	missense	1105	exon23			TAATATTCTCCCG	AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.3364A>G	5.37:g.98212136T>C	ENSP00000284049:p.Asn1122Asp	96.0	0.0		107.0	28.0	NM_001270	Q17RZ3	Missense_Mutation	SNP	ENST00000284049.3	37	CCDS34204.1	.	.	.	.	.	.	.	.	.	.	T	13.56	2.272766	0.40194	.	.	ENSG00000153922	ENST00000284049	D	0.89485	-2.52	5.14	5.14	0.70334	.	0.209202	0.22250	U	0.062567	D	0.85340	0.5674	L	0.48642	1.525	0.58432	D	0.999999	P	0.38863	0.65	B	0.39660	0.306	T	0.82575	-0.0389	10	0.12430	T	0.62	.	15.2607	0.73621	0.0:0.0:0.0:1.0	.	1122	O14646	CHD1_HUMAN	D	1122	ENSP00000284049:N1122D	ENSP00000284049:N1122D	N	-	1	0	CHD1	98240036	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	5.955000	0.70306	2.058000	0.61347	0.528000	0.53228	AAT	.		0.403	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370295.1	NM_001270	
CHRM5	1133	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	15	34356472	34356472	+	Silent	SNP	A	A	G			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr15:34356472A>G	ENST00000383263.5	+	3	2224	c.1554A>G	c.(1552-1554)aaA>aaG	p.K518K	CHRM5_ENST00000557872.1_Silent_p.K518K	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	518					adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway (GO:0007197)|cell proliferation (GO:0008283)|dopamine transport (GO:0015872)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|gastric acid secretion (GO:0001696)|metabolic process (GO:0008152)|regulation of phosphatidylinositol dephosphorylation (GO:0060304)|transmission of nerve impulse (GO:0019226)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Darifenacin(DB00496)|Desipramine(DB01151)|Doxepin(DB01142)|Fesoterodine(DB06702)|Homatropine Methylbromide(DB00725)|Imipramine(DB00458)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paroxetine(DB00715)|Pethidine(DB00454)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Tolterodine(DB01036)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Ziprasidone(DB00246)	AAAAGAAAAAAGTGGAAGAGA	0.463																																					p.K518K		.											.	CHRM5	91	0			c.A1554G						.						56.0	62.0	60.0					15																	34356472		2201	4298	6499	SO:0001819	synonymous_variant	1133	exon3			GAAAAAAGTGGAA		CCDS10031.1	15q26	2012-08-08			ENSG00000184984	ENSG00000184984		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1954	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 5"""	118496					Standard	NM_012125		Approved		uc001zhk.1	P08912	OTTHUMG00000129369	ENST00000383263.5:c.1554A>G	15.37:g.34356472A>G		99.0	0.0		103.0	11.0	NM_012125	Q96RG7	Silent	SNP	ENST00000383263.5	37	CCDS10031.1																																																																																			.		0.463	CHRM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251521.2		
CHRNB2	1141	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	154543704	154543704	+	Silent	SNP	C	C	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr1:154543704C>T	ENST00000368476.3	+	5	669	c.405C>T	c.(403-405)gcC>gcT	p.A135A		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	135					action potential (GO:0001508)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|central nervous system projection neuron axonogenesis (GO:0021952)|cognition (GO:0050890)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|lateral geniculate nucleus development (GO:0021771)|learning (GO:0007612)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|neurological system process (GO:0050877)|optic nerve morphogenesis (GO:0021631)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|protein heterooligomerization (GO:0051291)|regulation of circadian sleep/wake cycle, non-REM sleep (GO:0045188)|regulation of circadian sleep/wake cycle, REM sleep (GO:0042320)|regulation of dendrite morphogenesis (GO:0048814)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine secretion (GO:0014059)|regulation of synapse assembly (GO:0051963)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|sensory perception of pain (GO:0019233)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)|vestibulocochlear nerve development (GO:0021562)|visual learning (GO:0008542)|visual perception (GO:0007601)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)|ligand-gated ion channel activity (GO:0015276)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Dextromethorphan(DB00514)|Galantamine(DB00674)|Nicotine(DB00184)	ATTCCAATGCCGTGGTCTCCT	0.532																																					p.A135A		.											.	CHRNB2	90	0			c.C405T						.						132.0	121.0	125.0					1																	154543704		2203	4300	6503	SO:0001819	synonymous_variant	1141	exon5			CAATGCCGTGGTC	U62437	CCDS1070.1	1q21.3	2012-02-11	2006-02-01		ENSG00000160716	ENSG00000160716		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1962	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 2 (neuronal)"""	118507	"""cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal)"""			1505988	Standard	NM_000748		Approved		uc001ffg.3	P17787	OTTHUMG00000037262	ENST00000368476.3:c.405C>T	1.37:g.154543704C>T		152.0	0.0		240.0	26.0	NM_000748	Q9UEH9	Silent	SNP	ENST00000368476.3	37	CCDS1070.1																																																																																			.		0.532	CHRNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090697.1	NM_000748	
CLASRP	11129	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	45543521	45543521	+	Silent	SNP	C	C	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr19:45543521C>T	ENST00000221455.3	+	2	149	c.51C>T	c.(49-51)gtC>gtT	p.V17V	CLASRP_ENST00000544944.2_Silent_p.V17V|CLASRP_ENST00000391953.4_Silent_p.V17V	NM_007056.2	NP_008987	Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	17					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						GCATGATGGTCGACTACAAGA	0.587																																					p.V17V		.											.	CLASRP	154	0			c.C51T						.						139.0	110.0	120.0					19																	45543521		2203	4297	6500	SO:0001819	synonymous_variant	11129	exon2			GATGGTCGACTAC	AF042800	CCDS12652.2, CCDS62710.1	19q13.3	2010-09-21	2010-09-21	2010-09-21	ENSG00000104859	ENSG00000104859			17731	protein-coding gene	gene with protein product	"""Clk4 associating SR-related protein"""		"""splicing factor, arginine/serine-rich 16"""	SFRS16		12169693	Standard	NM_007056		Approved	SWAP2, CLASP	uc002pak.3	Q8N2M8	OTTHUMG00000150189	ENST00000221455.3:c.51C>T	19.37:g.45543521C>T		183.0	0.0		243.0	24.0	NM_007056	B4DDT8|F8WAG9|O96026|Q6UW71|Q96DX2	Silent	SNP	ENST00000221455.3	37	CCDS12652.2																																																																																			.		0.587	CLASRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316749.1	NM_007056	
CLDN12	9069	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	90042146	90042146	+	Silent	SNP	A	A	G			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	A	A	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr7:90042146A>G	ENST00000287916.4	+	3	443	c.156A>G	c.(154-156)acA>acG	p.T52T	CTB-13L3.1_ENST00000480135.1_RNA|CLDN12_ENST00000535571.1_Silent_p.T52T|CLDN12_ENST00000394605.2_Silent_p.T52T	NM_001185073.2|NM_012129.4	NP_001172002.1|NP_036261.1	P56749	CLD12_HUMAN	claudin 12	52					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			breast(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)	15						CTGTTTACACAGGCCTGTGGG	0.512																																					p.T52T		.											.	CLDN12	90	0			c.A156G						.						133.0	114.0	121.0					7																	90042146		2203	4300	6503	SO:0001819	synonymous_variant	9069	exon3			TTACACAGGCCTG	AJ250713	CCDS5618.1	7q21	2008-07-18			ENSG00000157224	ENSG00000157224		"""Claudins"""	2034	protein-coding gene	gene with protein product		611232					Standard	NM_001185072		Approved		uc003ukr.3	P56749	OTTHUMG00000156612	ENST00000287916.4:c.156A>G	7.37:g.90042146A>G		230.0	1.0		252.0	32.0	NM_012129	D6W5Q4|Q7LDZ0	Silent	SNP	ENST00000287916.4	37	CCDS5618.1																																																																																			.		0.512	CLDN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059221.1	NM_012129	
CMKLR1	1240	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	12	108686719	108686719	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr12:108686719A>T	ENST00000312143.7	-	3	384	c.21T>A	c.(19-21)gaT>gaA	p.D7E	CMKLR1_ENST00000412676.1_Missense_Mutation_p.D7E|CMKLR1_ENST00000550402.1_Missense_Mutation_p.D7E|CMKLR1_ENST00000397688.2_Missense_Mutation_p.D5E|CMKLR1_ENST00000552995.1_Missense_Mutation_p.D5E	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	7					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of macrophage chemotaxis (GO:0010759)|regulation of calcium-mediated signaling (GO:0050848)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						AAGTGTTGTAATCTTCATCCT	0.453																																					p.D7E		.											.	CMKLR1	523	0			c.T21A						.						57.0	53.0	55.0					12																	108686719		1921	4137	6058	SO:0001583	missense	1240	exon3			GTTGTAATCTTCA	U79526	CCDS41829.1, CCDS44965.1	12q23.3	2013-07-29			ENSG00000174600	ENSG00000174600		"""GPCR / Class A : Resolvin receptors"""	2121	protein-coding gene	gene with protein product	"""resolvin E1 receptor"", ""chemerin receptor"""	602351					Standard	NM_004072		Approved	RVER1	uc009zuw.3	Q99788	OTTHUMG00000169576	ENST00000312143.7:c.21T>A	12.37:g.108686719A>T	ENSP00000311733:p.Asp7Glu	136.0	0.0		119.0	6.0	NM_001142344	A8K6Y5|O75748|Q3KP37|Q5U0H0|Q99789	Missense_Mutation	SNP	ENST00000312143.7	37	CCDS44965.1	.	.	.	.	.	.	.	.	.	.	A	13.85	2.359097	0.41801	.	.	ENSG00000174600	ENST00000312143;ENST00000412676;ENST00000397688;ENST00000552995;ENST00000550402;ENST00000550573;ENST00000549466	T;T;T;T;T;T;T	0.68765	-0.35;-0.35;-0.34;-0.34;-0.35;1.24;1.25	5.26	-3.64	0.04515	.	2.205920	0.02384	U	0.079066	T	0.51261	0.1664	L	0.59436	1.845	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.39035	-0.9633	10	0.02654	T	1	.	0.4293	0.00468	0.3752:0.13:0.2427:0.2521	.	7	Q99788	CML1_HUMAN	E	7;7;5;5;7;7;7	ENSP00000311733:D7E;ENSP00000401293:D7E;ENSP00000380803:D5E;ENSP00000447579:D5E;ENSP00000449716:D7E;ENSP00000448925:D7E;ENSP00000448362:D7E	ENSP00000311733:D7E	D	-	3	2	CMKLR1	107210849	0.005000	0.15991	0.001000	0.08648	0.203000	0.24098	-0.209000	0.09358	-1.005000	0.03417	-0.378000	0.06908	GAT	.		0.453	CMKLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404867.1		
CNTNAP4	85445	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	76513378	76513378	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr16:76513378A>G	ENST00000476707.1	+	11	1973	c.1834A>G	c.(1834-1836)Ata>Gta	p.I612V	CNTNAP4_ENST00000377504.4_Missense_Mutation_p.I560V|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.I536V|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.I608V|CNTNAP4_ENST00000469589.1_3'UTR			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	609	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GTTTTACTATATAGATTCAGA	0.343																																					p.I536V		.											.	CNTNAP4	70	0			c.A1606G						.						120.0	129.0	126.0					16																	76513378		2198	4296	6494	SO:0001583	missense	85445	exon11			TACTATATAGATT	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.1834A>G	16.37:g.76513378A>G	ENSP00000417628:p.Ile612Val	195.0	0.0		171.0	26.0	NM_138994	E9PFZ6|Q86YZ7	Missense_Mutation	SNP	ENST00000476707.1	37		.	.	.	.	.	.	.	.	.	.	A	12.56	1.974835	0.34848	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	T;T;T;T	0.32515	1.45;1.45;1.45;1.45	5.57	0.815	0.18763	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (3);	0.157455	0.29087	N	0.013190	T	0.23210	0.0561	.	.	.	0.39091	D	0.961107	B;B;B;B	0.12630	0.006;0.006;0.006;0.001	B;B;B;B	0.21151	0.02;0.02;0.033;0.005	T	0.06972	-1.0797	9	0.44086	T	0.13	.	9.5427	0.39262	0.731:0.0:0.269:0.0	.	536;612;584;609	E9PFZ6;E9PDN6;Q96M80;Q9C0A0	.;.;.;CNTP4_HUMAN	V	608;560;536;612	ENSP00000306893:I608V;ENSP00000439733:I560V;ENSP00000418741:I536V;ENSP00000417628:I612V	ENSP00000306893:I608V	I	+	1	0	CNTNAP4	75070879	0.867000	0.29959	0.934000	0.37439	0.964000	0.63967	1.676000	0.37565	-0.046000	0.13446	0.528000	0.53228	ATA	.		0.343	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401	
COBLL1	22837	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	165548775	165548775	+	Silent	SNP	G	G	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr2:165548775G>A	ENST00000392717.2	-	14	3488	c.3484C>T	c.(3484-3486)Ctg>Ttg	p.L1162L	COBLL1_ENST00000375458.2_Silent_p.L1086L|COBLL1_ENST00000409184.3_Silent_p.L1124L|COBLL1_ENST00000194871.6_Silent_p.L1191L|COBLL1_ENST00000342193.4_Silent_p.L1124L			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	1162	WH2. {ECO:0000255|PROSITE- ProRule:PRU00406}.					extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						ATTGCAGTCAGCAAACTCTGT	0.443																																					p.L1124L		.											.	COBLL1	93	0			c.C3370T						.						105.0	98.0	101.0					2																	165548775		2203	4300	6503	SO:0001819	synonymous_variant	22837	exon13			CAGTCAGCAAACT	AB023194	CCDS2223.2, CCDS63045.1	2q24.3	2012-12-07	2012-12-07		ENSG00000082438	ENSG00000082438			23571	protein-coding gene	gene with protein product		610318	"""COBL-like 1"""				Standard	NM_001278458		Approved	KIAA0977	uc002ucp.3	Q53SF7	OTTHUMG00000074019	ENST00000392717.2:c.3484C>T	2.37:g.165548775G>A		150.0	0.0		169.0	56.0	NM_014900	A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Silent	SNP	ENST00000392717.2	37																																																																																				.		0.443	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014900	
COL12A1	1303	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	75884975	75884975	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr6:75884975A>G	ENST00000322507.8	-	13	2798	c.2489T>C	c.(2488-2490)aTg>aCg	p.M830T	COL12A1_ENST00000483888.2_Missense_Mutation_p.M830T|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Missense_Mutation_p.M830T	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	830	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AGATAATTTCATAGTAGACGT	0.413																																					p.M830T		.											.	COL12A1	142	0			c.T2489C						.						125.0	118.0	120.0					6																	75884975		1864	4083	5947	SO:0001583	missense	1303	exon13			AATTTCATAGTAG	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.2489T>C	6.37:g.75884975A>G	ENSP00000325146:p.Met830Thr	166.0	0.0		172.0	31.0	NM_004370	O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	A	15.56	2.869910	0.51588	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000416123;ENST00000483888	T;T;T	0.53640	0.61;0.61;0.61	5.79	5.79	0.91817	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.148812	0.48286	D	0.000196	T	0.36358	0.0964	M	0.62266	1.93	0.47153	D	0.999338	B	0.20887	0.049	B	0.23150	0.044	T	0.36696	-0.9737	10	0.72032	D	0.01	.	16.1267	0.81400	1.0:0.0:0.0:0.0	.	830	Q99715	COCA1_HUMAN	T	830	ENSP00000325146:M830T;ENSP00000412864:M830T;ENSP00000421216:M830T	ENSP00000325146:M830T	M	-	2	0	COL12A1	75941695	1.000000	0.71417	0.996000	0.52242	0.771000	0.43674	8.962000	0.93254	2.205000	0.71048	0.455000	0.32223	ATG	.		0.413	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370	
COL27A1	85301	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	116973290	116973290	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr9:116973290G>A	ENST00000356083.3	+	12	2742	c.2351G>A	c.(2350-2352)gGc>gAc	p.G784D	MIR455_ENST00000384993.1_RNA	NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	784	Collagen-like 3.|Pro-rich.|Triple-helical region.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GGCAAGAGGGGCAAGATGGGT	0.642																																					p.G784D		.											.	COL27A1	94	0			c.G2351A						.						119.0	102.0	108.0					9																	116973290		2203	4300	6503	SO:0001583	missense	85301	exon12			AGAGGGGCAAGAT	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.2351G>A	9.37:g.116973290G>A	ENSP00000348385:p.Gly784Asp	141.0	0.0		96.0	14.0	NM_032888	Q66K43|Q96JF7	Missense_Mutation	SNP	ENST00000356083.3	37	CCDS6802.1	.	.	.	.	.	.	.	.	.	.	G	19.58	3.855050	0.71719	.	.	ENSG00000196739	ENST00000356083;ENST00000357257;ENST00000374106;ENST00000451716	D;D	0.99619	-5.52;-6.28	5.67	5.67	0.87782	.	.	.	.	.	D	0.99822	0.9921	H	0.98629	4.285	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.85130	0.87;0.997	D	0.96851	0.9625	9	0.87932	D	0	.	17.2564	0.87057	0.0:0.0:1.0:0.0	.	784;680	Q8IZC6;Q5T1U7	CORA1_HUMAN;.	D	784;784;680;680	ENSP00000348385:G784D;ENSP00000391328:G680D	ENSP00000348385:G784D	G	+	2	0	COL27A1	116013111	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.384000	0.97219	2.676000	0.91093	0.561000	0.74099	GGC	.		0.642	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888	
COL5A2	1290	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	189901361	189901361	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr2:189901361T>A	ENST00000374866.3	-	52	4368	c.4094A>T	c.(4093-4095)gAt>gTt	p.D1365V		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1365	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TCTGTTCATATCAAGACCATA	0.338																																					p.D1365V		.											.	COL5A2	92	0			c.A4094T						.						83.0	75.0	78.0					2																	189901361		2203	4300	6503	SO:0001583	missense	1290	exon52			TTCATATCAAGAC	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.4094A>T	2.37:g.189901361T>A	ENSP00000364000:p.Asp1365Val	73.0	0.0		100.0	20.0	NM_000393	P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	ENST00000374866.3	37	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	T	16.51	3.142661	0.57044	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	T	0.73047	-0.71	5.98	5.98	0.97165	Fibrillar collagen, C-terminal (3);	0.000000	0.53938	D	0.000053	T	0.78394	0.4276	L	0.54908	1.71	0.80722	D	1	D;D	0.61080	0.968;0.989	P;P	0.61003	0.757;0.882	T	0.74665	-0.3589	10	0.23302	T	0.38	.	16.4696	0.84102	0.0:0.0:0.0:1.0	.	1005;1365	Q5PR22;P05997	.;CO5A2_HUMAN	V	1365;1005	ENSP00000364000:D1365V	ENSP00000364000:D1365V	D	-	2	0	COL5A2	189609606	1.000000	0.71417	0.974000	0.42286	0.987000	0.75469	4.976000	0.63785	2.289000	0.77006	0.482000	0.46254	GAT	.		0.338	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393	
COL6A3	1293	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	238274558	238274558	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr2:238274558C>G	ENST00000295550.4	-	12	6073	c.5621G>C	c.(5620-5622)aGg>aCg	p.R1874T	COL6A3_ENST00000472056.1_Missense_Mutation_p.R1267T|COL6A3_ENST00000347401.3_Missense_Mutation_p.R1673T|COL6A3_ENST00000353578.4_Missense_Mutation_p.R1668T|COL6A3_ENST00000346358.4_Missense_Mutation_p.R1674T|COL6A3_ENST00000409809.1_Missense_Mutation_p.R1668T	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1874	Nonhelical region.|VWFA 10. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GCAGCTGACCCTGTGCATCTG	0.597																																					p.R1874T		.											.	COL6A3	526	0			c.G5621C						.						74.0	75.0	75.0					2																	238274558		2203	4300	6503	SO:0001583	missense	1293	exon12			CTGACCCTGTGCA	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.5621G>C	2.37:g.238274558C>G	ENSP00000295550:p.Arg1874Thr	46.0	0.0		61.0	17.0	NM_004369	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	3.575	-0.086856	0.07097	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	T;T;T;T;T;T	0.36520	1.25;1.25;1.25;1.25;1.25;1.25	5.34	2.48	0.30137	von Willebrand factor, type A (2);	0.384789	0.22024	N	0.065682	T	0.26085	0.0636	L	0.40543	1.245	0.09310	N	1	P;P;B	0.49090	0.863;0.919;0.094	B;P;B	0.46026	0.428;0.501;0.016	T	0.07102	-1.0790	10	0.16896	T	0.51	.	3.3595	0.07181	0.0:0.4537:0.2013:0.345	.	1267;1668;1874	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	T	1874;1673;1668;1267;1668;1674	ENSP00000295550:R1874T;ENSP00000315609:R1673T;ENSP00000315873:R1668T;ENSP00000418285:R1267T;ENSP00000386844:R1668T;ENSP00000295546:R1674T	ENSP00000295550:R1874T	R	-	2	0	COL6A3	237939297	0.000000	0.05858	0.002000	0.10522	0.037000	0.13140	0.820000	0.27323	0.720000	0.32209	0.655000	0.94253	AGG	.		0.597	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369	
COMMD9	29099	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	36296268	36296268	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr11:36296268C>T	ENST00000263401.5	-	6	527	c.511G>A	c.(511-513)Gtg>Atg	p.V171M	LINC00610_ENST00000355500.1_lincRNA|COMMD9_ENST00000532705.1_Missense_Mutation_p.R159H|COMMD9_ENST00000533308.1_5'Flank|COMMD9_ENST00000452374.2_Missense_Mutation_p.V129M	NM_014186.3	NP_054905.2	Q9P000	COMD9_HUMAN	COMM domain containing 9	171	COMM. {ECO:0000255|PROSITE- ProRule:PRU00602}.									kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	5	all_lung(20;0.211)	all_hematologic(20;0.107)				CTCAGCTCCACGGTGACAGCT	0.547																																					p.V171M		.											.	COMMD9	91	0			c.G511A						.						165.0	135.0	145.0					11																	36296268		2202	4298	6500	SO:0001583	missense	29099	exon6			GCTCCACGGTGAC	AY542164	CCDS7900.1, CCDS44571.1	11p13	2008-02-05			ENSG00000110442	ENSG00000110442			25014	protein-coding gene	gene with protein product		612299				15799966	Standard	NM_014186		Approved	HSPC166, FLJ31106	uc001mwn.4	Q9P000	OTTHUMG00000166333	ENST00000263401.5:c.511G>A	11.37:g.36296268C>T	ENSP00000263401:p.Val171Met	248.0	0.0		345.0	173.0	NM_014186	E9PAN2|Q96FI2|Q9H0R0	Missense_Mutation	SNP	ENST00000263401.5	37	CCDS7900.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.65|13.65	2.301182|2.301182	0.40694|0.40694	.|.	.|.	ENSG00000110442|ENSG00000110442	ENST00000532705|ENST00000263401;ENST00000452374	.|T;T	.|0.09723	.|2.95;2.95	5.66|5.66	-8.51|-8.51	0.00923|0.00923	.|COMM domain (1);	.|0.383306	.|0.33772	.|N	.|0.004574	T|T	0.03305|0.03305	0.0096|0.0096	N|N	0.10916|0.10916	0.065|0.065	0.18873|0.18873	N|N	0.999989|0.999989	.|P;B	.|0.48230	.|0.907;0.031	.|B;B	.|0.32022	.|0.139;0.018	T|T	0.24870|0.24870	-1.0148|-1.0148	6|10	0.87932|0.27082	D|T	0|0.32	-16.116|-16.116	16.1983|16.1983	0.82046|0.82046	0.0:0.5707:0.0:0.4293|0.0:0.5707:0.0:0.4293	.|.	.|129;171	.|Q9P000-2;Q9P000	.|.;COMD9_HUMAN	H|M	159|171;129	.|ENSP00000263401:V171M;ENSP00000392510:V129M	ENSP00000435599:R159H|ENSP00000263401:V171M	R|V	-|-	2|1	0|0	COMMD9|COMMD9	36252844|36252844	0.001000|0.001000	0.12720|0.12720	0.443000|0.443000	0.26883|0.26883	0.938000|0.938000	0.57974|0.57974	-0.637000|-0.637000	0.05459|0.05459	-1.794000|-1.794000	0.01256|0.01256	-0.290000|-0.290000	0.09829|0.09829	CGT|GTG	.		0.547	COMMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389196.1	NM_014186	
CPNE5	57699	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	36730726	36730726	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr6:36730726C>T	ENST00000244751.2	-	12	1447	c.823G>A	c.(823-825)Gcc>Acc	p.A275T		NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	275						extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						TGCCCACGGGCCAGCTCCCGG	0.587																																					p.A275T		.											.	CPNE5	91	0			c.G823A						.						146.0	116.0	126.0					6																	36730726		2203	4300	6503	SO:0001583	missense	57699	exon12			CACGGGCCAGCTC	H09181	CCDS4825.1	6p21.2	2010-05-28			ENSG00000124772	ENSG00000124772			2318	protein-coding gene	gene with protein product		604209				9430674	Standard	NM_020939		Approved	CPN5, COPN5, KIAA1599	uc003omr.1	Q9HCH3	OTTHUMG00000014602	ENST00000244751.2:c.823G>A	6.37:g.36730726C>T	ENSP00000244751:p.Ala275Thr	123.0	0.0		166.0	46.0	NM_020939	Q7Z6C8	Missense_Mutation	SNP	ENST00000244751.2	37	CCDS4825.1	.	.	.	.	.	.	.	.	.	.	C	12.84	2.057349	0.36277	.	.	ENSG00000124772	ENST00000244751	T	0.39406	1.08	5.36	5.36	0.76844	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.166115	0.51477	D	0.000082	T	0.10294	0.0252	N	0.04880	-0.145	0.80722	D	1	B	0.09022	0.002	B	0.11329	0.006	T	0.14200	-1.0481	10	0.18276	T	0.48	.	11.9785	0.53107	0.1732:0.8268:0.0:0.0	.	275	Q9HCH3	CPNE5_HUMAN	T	275	ENSP00000244751:A275T	ENSP00000244751:A275T	A	-	1	0	CPNE5	36838704	0.859000	0.29813	1.000000	0.80357	0.982000	0.71751	0.336000	0.19823	2.693000	0.91896	0.313000	0.20887	GCC	.		0.587	CPNE5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040351.1	NM_020939	
CRB1	23418	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	1	197403858	197403858	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr1:197403858T>A	ENST00000367400.3	+	9	3000	c.2865T>A	c.(2863-2865)aaT>aaA	p.N955K	CRB1_ENST00000367397.1_Missense_Mutation_p.N336K|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000544212.1_Missense_Mutation_p.N436K|CRB1_ENST00000367399.2_Missense_Mutation_p.N843K|CRB1_ENST00000535699.1_Missense_Mutation_p.N931K	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	955	EGF-like 14. {ECO:0000255|PROSITE- ProRule:PRU00076}.|Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CTGTTTTTAATGGACAAAGCG	0.299																																					p.N955K		.											.	CRB1	161	0			c.T2865A						.						66.0	71.0	70.0					1																	197403858		2202	4298	6500	SO:0001583	missense	23418	exon9			TTTTAATGGACAA		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.2865T>A	1.37:g.197403858T>A	ENSP00000356370:p.Asn955Lys	122.0	0.0		181.0	15.0	NM_201253	A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	T	4.273	0.049869	0.08243	.	.	ENSG00000134376	ENST00000535699;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000367397;ENST00000367401	T;T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39;-0.39	5.34	1.69	0.24217	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.57330	0.2046	M	0.64997	1.995	0.27434	N	0.953926	B;B;P;B	0.35272	0.019;0.287;0.493;0.361	B;B;B;B	0.31101	0.022;0.053;0.124;0.024	T	0.41215	-0.9521	9	0.23891	T	0.37	.	8.9412	0.35731	0.0:0.3398:0.0:0.6602	.	931;843;604;955	F5H0L2;P82279-3;P82279-4;P82279	.;.;.;CRUM1_HUMAN	K	931;955;843;436;336;604	ENSP00000438786:N931K;ENSP00000356370:N955K;ENSP00000356369:N843K;ENSP00000444556:N436K;ENSP00000356367:N336K	ENSP00000356367:N336K	N	+	3	2	CRB1	195670481	0.015000	0.18098	0.870000	0.34147	0.007000	0.05969	-0.067000	0.11579	0.034000	0.15491	-0.408000	0.06270	AAT	.		0.299	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253	
CTNNA1	1495	broad.mit.edu;ucsc.edu;mdanderson.org	37	5	138266252	138266252	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr5:138266252G>T	ENST00000302763.7	+	15	2191	c.2101G>T	c.(2101-2103)Gaa>Taa	p.E701*	CTNNA1_ENST00000518825.1_Nonsense_Mutation_p.E701*|CTNNA1_ENST00000540387.1_Nonsense_Mutation_p.E331*|CTNNA1_ENST00000355078.5_Nonsense_Mutation_p.E598*	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	701					adherens junction organization (GO:0034332)|aging (GO:0007568)|apical junction assembly (GO:0043297)|axon regeneration (GO:0031103)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular protein localization (GO:0034613)|cellular response to indole-3-methanol (GO:0071681)|epithelial cell-cell adhesion (GO:0090136)|establishment or maintenance of cell polarity (GO:0007163)|gap junction assembly (GO:0016264)|male gonad development (GO:0008584)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell motility (GO:2000146)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|negative regulation of neuroblast proliferation (GO:0007406)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of smoothened signaling pathway (GO:0045880)|protein heterooligomerization (GO:0051291)|response to estrogen (GO:0043627)	acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|catenin complex (GO:0016342)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|gamma-catenin binding (GO:0045295)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|vinculin binding (GO:0017166)			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GCTGGATGCTGAAGTGTCCAA	0.517																																					p.E701X		.											.	CTNNA1	671	0			c.G2101T						.						161.0	152.0	155.0					5																	138266252		2203	4300	6503	SO:0001587	stop_gained	1495	exon15			GATGCTGAAGTGT	D13866	CCDS34243.1, CCDS75315.1	5q31.2	2008-02-05	2002-08-29			ENSG00000044115			2509	protein-coding gene	gene with protein product		116805	"""catenin (cadherin-associated protein), alpha 1 (102kD)"""			1924379	Standard	XM_005271898		Approved	CAP102	uc003ldh.3	P35221		ENST00000302763.7:c.2101G>T	5.37:g.138266252G>T	ENSP00000304669:p.Glu701*	310.0	1.0		304.0	40.0	NM_001903	Q12795|Q8N1C0	Nonsense_Mutation	SNP	ENST00000302763.7	37	CCDS34243.1	.	.	.	.	.	.	.	.	.	.	G	38	7.041316	0.98021	.	.	ENSG00000044115	ENST00000355078;ENST00000302763;ENST00000537034;ENST00000541863;ENST00000518825;ENST00000540387	.	.	.	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-25.5612	19.9422	0.97170	0.0:0.0:1.0:0.0	.	.	.	.	X	598;701;701;686;701;331	.	ENSP00000304669:E701X	E	+	1	0	CTNNA1	138294151	1.000000	0.71417	0.940000	0.37924	0.997000	0.91878	9.567000	0.98161	2.884000	0.98904	0.655000	0.94253	GAA	.		0.517	CTNNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373868.1	NM_001903	
CUBN	8029	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	16967302	16967302	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr10:16967302A>T	ENST00000377833.4	-	43	6649	c.6584T>A	c.(6583-6585)tTt>tAt	p.F2195Y		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2195	CUB 15. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ATCAGAAATAAACTGAACAAA	0.388																																					p.F2195Y		.											.	CUBN	166	0			c.T6584A						.						69.0	70.0	69.0					10																	16967302		2203	4300	6503	SO:0001583	missense	8029	exon43			GAAATAAACTGAA	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.6584T>A	10.37:g.16967302A>T	ENSP00000367064:p.Phe2195Tyr	260.0	0.0		298.0	48.0	NM_001081	B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.325243	0.81580	.	.	ENSG00000107611	ENST00000377833	T	0.30182	1.54	5.32	5.32	0.75619	CUB (5);	0.000000	0.48286	D	0.000191	T	0.62660	0.2446	M	0.90252	3.1	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.69636	-0.5092	10	0.51188	T	0.08	.	15.4412	0.75184	1.0:0.0:0.0:0.0	.	2195	O60494	CUBN_HUMAN	Y	2195	ENSP00000367064:F2195Y	ENSP00000367064:F2195Y	F	-	2	0	CUBN	17007308	1.000000	0.71417	1.000000	0.80357	0.743000	0.42351	8.494000	0.90477	2.241000	0.73720	0.533000	0.62120	TTT	.		0.388	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081	
CYLC1	1538	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	83129239	83129239	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chrX:83129239A>G	ENST00000329312.4	+	4	1560	c.1523A>G	c.(1522-1524)gAt>gGt	p.D508G		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	508					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						TCAAAGAAAGATATCAAGAAG	0.348																																					p.D508G		.											.	CYLC1	112	0			c.A1523G						.						83.0	73.0	76.0					X																	83129239		2202	4299	6501	SO:0001583	missense	1538	exon4			AGAAAGATATCAA	Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"""cylicin 1"""	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.1523A>G	X.37:g.83129239A>G	ENSP00000331556:p.Asp508Gly	142.0	0.0		92.0	27.0	NM_021118	A0AVQ8|Q5JQQ9	Missense_Mutation	SNP	ENST00000329312.4	37	CCDS35341.1	.	.	.	.	.	.	.	.	.	.	a	8.594	0.885227	0.17540	.	.	ENSG00000183035	ENST00000329312;ENST00000544771	T	0.52754	0.65	3.16	0.613	0.17597	.	.	.	.	.	T	0.35335	0.0928	L	0.50333	1.59	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.12156	0.007;0.005	T	0.27640	-1.0068	9	0.32370	T	0.25	.	2.9178	0.05759	0.5928:0.2586:0.1487:0.0	.	508;508	P35663;F5H4V5	CYLC1_HUMAN;.	G	508	ENSP00000331556:D508G	ENSP00000331556:D508G	D	+	2	0	CYLC1	83015895	0.102000	0.21896	0.000000	0.03702	0.003000	0.03518	1.542000	0.36137	0.024000	0.15214	0.486000	0.48141	GAT	.		0.348	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057371.1	NM_021118	
CYP11B2	1585	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	143994784	143994784	+	Silent	SNP	G	G	A	rs200388238		TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr8:143994784G>A	ENST00000323110.2	-	6	1040	c.1038C>T	c.(1036-1038)gcC>gcT	p.A346A		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	346					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|mineralocorticoid biosynthetic process (GO:0006705)|potassium ion homeostasis (GO:0055075)|regulation of blood volume by renal aldosterone (GO:0002017)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	corticosterone 18-monooxygenase activity (GO:0047783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Eplerenone(DB00700)|Etomidate(DB00292)|Hydrocortisone(DB00741)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Spironolactone(DB00421)	TGGCTGCGGCGGCCAGGCTCT	0.637									Familial Hyperaldosteronism type I																												p.A346A		.											.	CYP11B2	90	0			c.C1038T						.						56.0	61.0	60.0					8																	143994784		2202	4299	6501	SO:0001819	synonymous_variant	1585	exon6	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	TGCGGCGGCCAGG	X54741	CCDS6393.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000179142	ENSG00000179142	1.14.15.4	"""Cytochrome P450s"""	2592	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	124080	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2"""	CYP11B		1303253	Standard	NM_000498		Approved	CYP11BL, CPN2, P-450C18, P450aldo, ALDOS	uc003yxk.1	P19099	OTTHUMG00000160254	ENST00000323110.2:c.1038C>T	8.37:g.143994784G>A		147.0	0.0		92.0	15.0	NM_000498	B0ZBE4|Q16726	Silent	SNP	ENST00000323110.2	37	CCDS6393.1																																																																																			G|0.999;A|0.001		0.637	CYP11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359904.1		
CYSLTR1	10800	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	77528233	77528233	+	Silent	SNP	T	T	C			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chrX:77528233T>C	ENST00000373304.3	-	3	1303	c.1011A>G	c.(1009-1011)gtA>gtG	p.V337V		NM_001282187.1|NM_001282188.1|NM_006639.3	NP_001269116.1|NP_001269117.1|NP_006630.1	Q9Y271	CLTR1_HUMAN	cysteinyl leukotriene receptor 1	337					defense response (GO:0006952)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|respiratory gaseous exchange (GO:0007585)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	leukotriene receptor activity (GO:0004974)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14					Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)	GTTTAAACTATACTTTACATA	0.308																																					p.V337V		.											.	CYSLTR1	131	0			c.A1011G						.						58.0	54.0	56.0					X																	77528233		2193	4295	6488	SO:0001819	synonymous_variant	10800	exon3			AAACTATACTTTA	AF119711	CCDS14439.1	Xq13-q21	2012-08-10			ENSG00000173198	ENSG00000173198		"""GPCR / Class A : Leukotriene receptors"""	17451	protein-coding gene	gene with protein product		300201				10391245, 10462554	Standard	NM_006639		Approved	CysLT1, CysLT(1), CYSLT1R	uc004edb.3	Q9Y271	OTTHUMG00000021889	ENST00000373304.3:c.1011A>G	X.37:g.77528233T>C		166.0	0.0		122.0	22.0	NM_006639	B2R954|D3DTE4|Q5JS94|Q8IV19	Silent	SNP	ENST00000373304.3	37	CCDS14439.1																																																																																			.		0.308	CYSLTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057315.1		
DDX46	9879	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	5	134121190	134121190	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr5:134121190C>G	ENST00000354283.4	+	11	1513	c.1378C>G	c.(1378-1380)Cag>Gag	p.Q460E	DDX46_ENST00000509178.1_3'UTR|DDX46_ENST00000452510.2_Missense_Mutation_p.Q460E			Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	460	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ACTGGCTTTACAGATTACTAA	0.398																																					p.Q460E	Colon(13;391 453 4901 21675 24897)	.											.	DDX46	227	0			c.C1378G						.						153.0	154.0	154.0					5																	134121190		2203	4300	6503	SO:0001583	missense	9879	exon11			GCTTTACAGATTA		CCDS34240.1, CCDS75306.1	5q31.1	2010-01-25			ENSG00000145833	ENSG00000145833		"""DEAD-boxes"""	18681	protein-coding gene	gene with protein product							Standard	XM_005272142		Approved	KIAA0801, FLJ25329, PRPF5, Prp5	uc003kzw.3	Q7L014	OTTHUMG00000163072	ENST00000354283.4:c.1378C>G	5.37:g.134121190C>G	ENSP00000346236:p.Gln460Glu	88.0	0.0		134.0	11.0	NM_014829	O94894|Q96EI0|Q9Y658	Missense_Mutation	SNP	ENST00000354283.4	37	CCDS34240.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.671964	0.88348	.	.	ENSG00000145833	ENST00000452510;ENST00000354283	D;D	0.81996	-1.56;-1.56	5.79	5.79	0.91817	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95943	0.8679	H	0.99740	4.74	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97669	1.0165	10	0.87932	D	0	-18.3815	20.0281	0.97530	0.0:1.0:0.0:0.0	.	460	Q7L014	DDX46_HUMAN	E	460	ENSP00000416534:Q460E;ENSP00000346236:Q460E	ENSP00000346236:Q460E	Q	+	1	0	DDX46	134149089	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	7.805000	0.86005	2.727000	0.93392	0.655000	0.94253	CAG	.		0.398	DDX46-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371584.1	NM_014829	
DENND4A	10260	broad.mit.edu;mdanderson.org	37	15	65959791	65959791	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr15:65959791G>C	ENST00000431932.2	-	28	5313	c.5105C>G	c.(5104-5106)tCa>tGa	p.S1702*	DENND4A_ENST00000443035.3_Nonsense_Mutation_p.S1745*	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	1702					positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						TCATACCTTTGAATACTTGTT	0.343																																					p.S1745X		.											.	DENND4A	229	0			c.C5234G						.						97.0	94.0	95.0					15																	65959791		1835	4079	5914	SO:0001587	stop_gained	10260	exon29			ACCTTTGAATACT	AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"""DENN/MADD domain containing"""	24321	protein-coding gene	gene with protein product		600382	"""c-myc promoter binding protein"""	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.5105C>G	15.37:g.65959791G>C	ENSP00000396830:p.Ser1702*	79.0	0.0		68.0	9.0	NM_001144823	E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Nonsense_Mutation	SNP	ENST00000431932.2	37	CCDS45285.1	.	.	.	.	.	.	.	.	.	.	G	46	12.406882	0.99665	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	.	.	.	5.48	5.48	0.80851	.	0.355632	0.30109	N	0.010397	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	.	19.7203	0.96139	0.0:0.0:1.0:0.0	.	.	.	.	X	1745;1702	.	ENSP00000396830:S1702X	S	-	2	0	DENND4A	63746845	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.099000	0.89542	2.732000	0.93576	0.555000	0.69702	TCA	.		0.343	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1	NM_005848	
DGKK	139189	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	50147103	50147103	+	RNA	SNP	C	C	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chrX:50147103C>T	ENST00000376025.2	-	0	1081							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					ACAAACATTGCAGTGCTGGGT	0.438																																					.		.											.	DGKK	227	0			.						.						83.0	78.0	79.0					X																	50147103		1986	4152	6138			139189	.			ACATTGCAGTGCT	AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50147103C>T		116.0	0.0		108.0	18.0	.	B2RP91	RNA	SNP	ENST00000376025.2	37																																																																																				.		0.438	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742	
DIP2A	23181	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	21	47931358	47931358	+	Silent	SNP	G	G	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr21:47931358G>A	ENST00000417564.2	+	8	954	c.933G>A	c.(931-933)aaG>aaA	p.K311K	DIP2A_ENST00000435722.3_Silent_p.K311K|DIP2A_ENST00000466639.1_Silent_p.K268K|DIP2A_ENST00000427143.2_Silent_p.K247K|DIP2A_ENST00000318711.7_Silent_p.K312K|DIP2A_ENST00000400274.1_Silent_p.K307K|DIP2A_ENST00000457905.3_Silent_p.K311K			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	311					multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		ATCAGCCAAAGCCTGAGGGAA	0.517																																					p.K311K		.											.	DIP2A	24	0			c.G933A						.						29.0	31.0	30.0					21																	47931358		1968	4155	6123	SO:0001819	synonymous_variant	23181	exon8			GCCAAAGCCTGAG	AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"""chromosome 21 open reading frame 106"""	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.933G>A	21.37:g.47931358G>A		96.0	1.0		98.0	22.0	NM_206891	A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Silent	SNP	ENST00000417564.2	37	CCDS46655.1																																																																																			.		0.517	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376736.1	NM_015151	
DLG2	1740	broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	84634119	84634119	+	Splice_Site	SNP	A	A	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	A	A	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr11:84634119A>T	ENST00000532653.1	-	1	345		c.e1+1		DLG2_ENST00000376104.2_Intron|DLG2_ENST00000398309.2_Splice_Site|DLG2_ENST00000524982.1_Splice_Site|DLG2_ENST00000543673.1_Intron			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)						nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				GCCTCCTCTTACCTTCACGTT	0.488																																					.		.											.	DLG2	96	0			c.42+2T>A						.						55.0	60.0	58.0					11																	84634119		2030	4190	6220	SO:0001630	splice_region_variant	1740	exon2			CCTCTTACCTTCA	U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	2901	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 58"""	603583	"""discs, large homolog 2, chapsyn-110 (Drosophila)"""			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000532653.1:c.42+1T>A	11.37:g.84634119A>T		135.0	2.0		144.0	19.0	NM_001364	B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Splice_Site	SNP	ENST00000532653.1	37		.	.	.	.	.	.	.	.	.	.	A	15.06	2.721244	0.48728	.	.	ENSG00000150672	ENST00000398309;ENST00000524982;ENST00000532653	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4116	0.83717	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DLG2	84311767	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.414000	0.73318	2.276000	0.75962	0.528000	0.53228	.	.		0.488	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000259253.2	NM_001364	Intron
DMRT3	58524	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	9	990928	990928	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr9:990928C>T	ENST00000190165.2	+	2	1380	c.1342C>T	c.(1342-1344)Cag>Tag	p.Q448*		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	448					adult walking behavior (GO:0007628)|male sex differentiation (GO:0046661)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|sex differentiation (GO:0007548)|transcription, DNA-templated (GO:0006351)|transmission of nerve impulse (GO:0019226)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		TGTGTCAAAGCAGTCCATTTA	0.542																																					p.Q448X		.											.	DMRT3	516	0			c.C1342T						.						93.0	90.0	91.0					9																	990928		2203	4300	6503	SO:0001587	stop_gained	58524	exon2			TCAAAGCAGTCCA	AJ301581	CCDS6443.1	9p24.3	2008-07-21	2001-12-17	2001-12-07	ENSG00000064218	ENSG00000064218			13909	protein-coding gene	gene with protein product	"""testis-specific protein"""	614754	"""DMRT-like family A3"""	DMRTA3		11543627, 10729223	Standard	NM_021240		Approved		uc003zgw.2	Q9NQL9	OTTHUMG00000019436	ENST00000190165.2:c.1342C>T	9.37:g.990928C>T	ENSP00000190165:p.Gln448*	165.0	0.0		139.0	19.0	NM_021240	Q7LA03|Q7LCH8|Q96SC7|Q9NRQ9	Nonsense_Mutation	SNP	ENST00000190165.2	37	CCDS6443.1	.	.	.	.	.	.	.	.	.	.	C	35	5.519543	0.96416	.	.	ENSG00000064218	ENST00000190165	.	.	.	5.22	4.28	0.50868	.	0.218002	0.41396	D	0.000885	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-29.9764	15.1877	0.73016	0.1412:0.8588:0.0:0.0	.	.	.	.	X	448	.	ENSP00000190165:Q448X	Q	+	1	0	DMRT3	980928	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	3.542000	0.53625	2.424000	0.82194	0.655000	0.94253	CAG	.		0.542	DMRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051490.1	NM_021240	
DNAH2	146754	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	7720031	7720031	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr17:7720031C>T	ENST00000572933.1	+	64	11332	c.9872C>T	c.(9871-9873)gCc>gTc	p.A3291V	DNAH2_ENST00000389173.2_Missense_Mutation_p.A3291V			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3291					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GGCGAGAAGGCCAGATGGGAG	0.567																																					p.A3291V		.											.	DNAH2	102	0			c.C9872T						.						150.0	127.0	135.0					17																	7720031		2203	4300	6503	SO:0001583	missense	146754	exon63			AGAAGGCCAGATG	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.9872C>T	17.37:g.7720031C>T	ENSP00000458355:p.Ala3291Val	134.0	1.0		88.0	27.0	NM_020877	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	C	11.23	1.576394	0.28092	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.69175	-0.38	4.45	4.45	0.53987	Dynein heavy chain, coiled coil stalk (1);	0.208171	0.42294	D	0.000737	T	0.35068	0.0919	N	0.01438	-0.865	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.09377	0.002;0.004	T	0.29610	-1.0006	10	0.16896	T	0.51	.	10.6403	0.45590	0.0:0.9059:0.0:0.0941	.	3252;3291	Q9P225-2;Q9P225	.;DYH2_HUMAN	V	3252;3291	ENSP00000373825:A3291V	ENSP00000353818:A3252V	A	+	2	0	DNAH2	7660756	1.000000	0.71417	1.000000	0.80357	0.593000	0.36681	2.897000	0.48664	2.469000	0.83416	0.462000	0.41574	GCC	.		0.567	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877	
DNAH5	1767	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	13692155	13692155	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr5:13692155T>C	ENST00000265104.4	-	79	13917	c.13813A>G	c.(13813-13815)Aca>Gca	p.T4605A		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4605					cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GTCTGGGCTGTCCTGAGATCC	0.507									Kartagener syndrome																												p.T4605A		.											.	DNAH5	182	0			c.A13813G						.						121.0	111.0	114.0					5																	13692155		2203	4300	6503	SO:0001583	missense	1767	exon79	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	GGGCTGTCCTGAG	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.13813A>G	5.37:g.13692155T>C	ENSP00000265104:p.Thr4605Ala	148.0	1.0		169.0	20.0	NM_001369	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	T	29.5	5.015325	0.93404	.	.	ENSG00000039139	ENST00000265104	T	0.09445	2.98	5.76	5.76	0.90799	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.34803	0.0910	M	0.83012	2.62	0.80722	D	1	P	0.52061	0.95	P	0.61070	0.883	T	0.14839	-1.0458	10	0.87932	D	0	.	16.0709	0.80928	0.0:0.0:0.0:1.0	.	4605	Q8TE73	DYH5_HUMAN	A	4605	ENSP00000265104:T4605A	ENSP00000265104:T4605A	T	-	1	0	DNAH5	13745155	1.000000	0.71417	0.997000	0.53966	0.733000	0.41908	8.040000	0.89188	2.198000	0.70561	0.528000	0.53228	ACA	.		0.507	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	
DNAI2	64446	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	72285791	72285791	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr17:72285791A>G	ENST00000311014.6	+	5	593	c.526A>G	c.(526-528)Agg>Ggg	p.R176G	DNAI2_ENST00000579490.1_Missense_Mutation_p.R233G|DNAI2_ENST00000582036.1_Missense_Mutation_p.R176G|DNAI2_ENST00000446837.2_Missense_Mutation_p.R176G|DNAI2_ENST00000307504.5_Missense_Mutation_p.R33G			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	176					cilium assembly (GO:0042384)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CGATGGCAACAGGAAGTTGGC	0.597									Kartagener syndrome																												p.R176G		.											.	DNAI2	92	0			c.A526G						.						64.0	61.0	62.0					17																	72285791		2203	4300	6503	SO:0001583	missense	64446	exon5	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	GGCAACAGGAAGT	AF250288	CCDS11697.1, CCDS58589.1	17q25	2013-02-19	2006-09-04			ENSG00000171595		"""Axonemal dyneins"", ""WD repeat domain containing"""	18744	protein-coding gene	gene with protein product	"""dynein intermediate chain 2"""	605483	"""dynein, axonemal, intermediate polypeptide 2"""			11153919, 21953912	Standard	NM_023036		Approved	CILD9, DIC2	uc002jkf.3	Q9GZS0		ENST00000311014.6:c.526A>G	17.37:g.72285791A>G	ENSP00000308312:p.Arg176Gly	98.0	0.0		125.0	82.0	NM_001172810	C9J0S6|Q8IUW4|Q9H179|Q9NT53	Missense_Mutation	SNP	ENST00000311014.6	37	CCDS11697.1	.	.	.	.	.	.	.	.	.	.	A	9.036	0.988394	0.18966	.	.	ENSG00000171595	ENST00000311014;ENST00000307504;ENST00000446837	T;T;T	0.71461	-0.57;-0.57;-0.57	5.01	-1.01	0.10169	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.620678	0.17566	N	0.169629	T	0.61185	0.2327	L	0.46741	1.465	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.49624	-0.8920	10	0.23302	T	0.38	-28.5779	16.2683	0.82601	0.4592:0.5408:0.0:0.0	.	176	Q9GZS0	DNAI2_HUMAN	G	176;33;176	ENSP00000308312:R176G;ENSP00000302929:R33G;ENSP00000400252:R176G	ENSP00000302929:R33G	R	+	1	2	DNAI2	69797386	0.037000	0.19845	0.981000	0.43875	0.882000	0.50991	0.262000	0.18460	-0.053000	0.13289	0.260000	0.18958	AGG	.		0.597	DNAI2-001	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442537.1	NM_023036	
DNAJB8	165721	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	128181553	128181553	+	Missense_Mutation	SNP	A	A	C			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr3:128181553A>C	ENST00000469083.1	-	2	3093	c.536T>G	c.(535-537)tTc>tGc	p.F179C	DNAJB8-AS1_ENST00000471626.1_RNA|DNAJB8_ENST00000319153.3_Missense_Mutation_p.F179C			Q8NHS0	DNJB8_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 8	179	Ser-rich.				chaperone-mediated protein folding (GO:0061077)|negative regulation of inclusion body assembly (GO:0090084)	cytosol (GO:0005829)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|protein binding involved in protein folding (GO:0044183)|unfolded protein binding (GO:0051082)			kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.177)		CACCGACTTGAACCCCGAGCT	0.617																																					p.F179C		.											.	DNAJB8	226	0			c.T536G						.						84.0	81.0	82.0					3																	128181553		2203	4300	6503	SO:0001583	missense	165721	exon3			GACTTGAACCCCG		CCDS3048.1	3q21.3	2014-01-21			ENSG00000179407	ENSG00000179407		"""Heat shock proteins / DNAJ (HSP40)"""	23699	protein-coding gene	gene with protein product		611337					Standard	NM_153330		Approved	MGC33884, CT156	uc003ekk.2	Q8NHS0	OTTHUMG00000159690	ENST00000469083.1:c.536T>G	3.37:g.128181553A>C	ENSP00000417418:p.Phe179Cys	136.0	0.0		171.0	22.0	NM_153330	B3KWV7	Missense_Mutation	SNP	ENST00000469083.1	37	CCDS3048.1	.	.	.	.	.	.	.	.	.	.	A	13.37	2.217198	0.39201	.	.	ENSG00000179407	ENST00000469083;ENST00000319153	T;T	0.52754	0.65;0.65	4.75	3.44	0.39384	.	0.840609	0.10715	N	0.642473	T	0.60117	0.2244	M	0.85945	2.785	0.53688	D	0.999976	D	0.59767	0.986	P	0.49708	0.62	T	0.64210	-0.6461	10	0.49607	T	0.09	.	10.4522	0.44528	0.8439:0.0:0.0:0.1561	.	179	Q8NHS0	DNJB8_HUMAN	C	179	ENSP00000417418:F179C;ENSP00000316053:F179C	ENSP00000316053:F179C	F	-	2	0	DNAJB8	129664243	0.996000	0.38824	0.992000	0.48379	0.165000	0.22458	2.423000	0.44705	1.772000	0.52199	0.459000	0.35465	TTC	.		0.617	DNAJB8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356933.1	NM_153330	
DNHD1	144132	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	6579426	6579426	+	Silent	SNP	T	T	C			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr11:6579426T>C	ENST00000527990.2	+	23	8901	c.8901T>C	c.(8899-8901)ccT>ccC	p.P2967P	DNHD1_ENST00000254579.6_Silent_p.P2967P			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	2967					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GCAGTTTCCCTGGCCAGTACA	0.537																																					p.P2967P		.											.	DNHD1	24	0			c.T8901C						.						68.0	59.0	62.0					11																	6579426		692	1591	2283	SO:0001819	synonymous_variant	144132	exon25			TTTCCCTGGCCAG	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.8901T>C	11.37:g.6579426T>C		147.0	0.0		137.0	69.0	NM_144666	Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Silent	SNP	ENST00000527990.2	37	CCDS44532.1																																																																																			.		0.537	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666	
DNM3	26052	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	1	172357765	172357765	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr1:172357765C>G	ENST00000355305.5	+	20	2513	c.2356C>G	c.(2356-2358)Ctc>Gtc	p.L786V	DNM3_ENST00000367731.1_Missense_Mutation_p.L776V|DNM3_ENST00000358155.4_Missense_Mutation_p.L780V			Q9UQ16	DYN3_HUMAN	dynamin 3	786					endocytosis (GO:0006897)|filopodium assembly (GO:0046847)|GTP catabolic process (GO:0006184)|synapse assembly (GO:0007416)	dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						AAGTGCTCCCCTCGCAAGGCC	0.592																																					p.L780V		.											.	DNM3	90	0			c.C2338G						.						52.0	62.0	59.0					1																	172357765		1961	4154	6115	SO:0001583	missense	26052	exon20			GCTCCCCTCGCAA	AL136712	CCDS44276.1, CCDS60356.1	1q24.1	2013-01-10			ENSG00000197959	ENSG00000197959		"""Pleckstrin homology (PH) domain containing"""	29125	protein-coding gene	gene with protein product	"""Dyna III"""	611445				10048485	Standard	NM_015569		Approved	KIAA0820	uc001gie.4	Q9UQ16	OTTHUMG00000034913	ENST00000355305.5:c.2356C>G	1.37:g.172357765C>G	ENSP00000347457:p.Leu786Val	67.0	0.0		126.0	11.0	NM_015569	A9Z1Y1|O14982|O95555|Q1MTM8|Q5W129|Q6P2G1|Q9H0P3|Q9H548|Q9NQ68|Q9NQN6	Missense_Mutation	SNP	ENST00000355305.5	37		.	.	.	.	.	.	.	.	.	.	C	9.514	1.106573	0.20714	.	.	ENSG00000197959	ENST00000359070;ENST00000358155;ENST00000355305;ENST00000367731;ENST00000485254	D;D;D;T	0.92397	-3.03;-3.03;-3.03;-0.6	5.32	5.32	0.75619	.	0.489617	0.19509	N	0.112551	T	0.77246	0.4102	N	0.08118	0	0.80722	D	1	B;B;B	0.24258	0.018;0.061;0.1	B;B;B	0.25614	0.004;0.062;0.026	T	0.77180	-0.2682	10	0.59425	D	0.04	.	12.6485	0.56748	0.1653:0.8347:0.0:0.0	.	786;776;780	Q9UQ16;Q9UQ16-2;Q9UQ16-3	DYN3_HUMAN;.;.	V	790;780;786;776;149	ENSP00000350876:L780V;ENSP00000347457:L786V;ENSP00000356705:L776V;ENSP00000429165:L149V	ENSP00000347457:L786V	L	+	1	0	DNM3	170624388	0.537000	0.26386	0.897000	0.35233	0.044000	0.14063	2.298000	0.43602	2.493000	0.84123	0.591000	0.81541	CTC	.		0.592	DNM3-003	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000084531.1	NM_015569	
DOCK11	139818	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	117752606	117752606	+	Missense_Mutation	SNP	A	A	G	rs112023398		TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chrX:117752606A>G	ENST00000276202.7	+	31	3449	c.3386A>G	c.(3385-3387)gAc>gGc	p.D1129G	DOCK11_ENST00000276204.6_Missense_Mutation_p.D1129G	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1129					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						GCTCTTCAGGACAATTATGAG	0.363																																					p.D1129G		.											.	DOCK11	93	0			c.A3386G						.						105.0	89.0	95.0					X																	117752606		2203	4297	6500	SO:0001583	missense	139818	exon31			TTCAGGACAATTA	AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.3386A>G	X.37:g.117752606A>G	ENSP00000276202:p.Asp1129Gly	325.0	0.0		256.0	57.0	NM_144658	A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	ENST00000276202.7	37	CCDS35373.1	.	.	.	.	.	.	.	.	.	.	A	16.23	3.064692	0.55432	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	D;D	0.96459	-4.02;-4.02	5.68	5.68	0.88126	.	0.181876	0.52532	D	0.000069	D	0.91901	0.7436	N	0.17312	0.475	0.44570	D	0.997535	B;B	0.34161	0.439;0.439	B;B	0.33521	0.165;0.165	D	0.91313	0.5076	10	0.40728	T	0.16	-9.5385	15.0808	0.72113	1.0:0.0:0.0:0.0	.	1129;1129	A6NIW2;Q5JSL3	.;DOC11_HUMAN	G	1129	ENSP00000276204:D1129G;ENSP00000276202:D1129G	ENSP00000276202:D1129G	D	+	2	0	DOCK11	117636634	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.778000	0.55371	2.012000	0.59069	0.441000	0.28932	GAC	A|0.500;G|0.500		0.363	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658	
DOCK2	1794	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	169504811	169504811	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr5:169504811G>A	ENST00000256935.8	+	48	5044	c.4964G>A	c.(4963-4965)tGc>tAc	p.C1655Y	DOCK2_ENST00000540750.1_Missense_Mutation_p.C716Y|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.C1147Y	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1655					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AATTCTGACTGCAGCACCCCC	0.597																																					p.C1655Y		.											.	DOCK2	97	0			c.G4964A						.						111.0	99.0	103.0					5																	169504811		2203	4300	6503	SO:0001583	missense	1794	exon48			CTGACTGCAGCAC	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.4964G>A	5.37:g.169504811G>A	ENSP00000256935:p.Cys1655Tyr	62.0	1.0		55.0	10.0	NM_004946	Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.095201	0.56075	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.09163	3.69;3.3;3.01	5.08	4.19	0.49359	.	0.194365	0.37809	N	0.001934	T	0.15132	0.0365	L	0.27053	0.805	0.43183	D	0.995009	P;D;P	0.58970	0.895;0.984;0.771	B;P;B	0.53593	0.424;0.73;0.424	T	0.01767	-1.1278	10	0.59425	D	0.04	.	14.3347	0.66581	0.0:0.1498:0.8502:0.0	.	1147;211;1655	E7ERW7;B3KY14;Q92608	.;.;DOCK2_HUMAN	Y	1655;1147;716	ENSP00000256935:C1655Y;ENSP00000429283:C1147Y;ENSP00000438827:C716Y	ENSP00000256935:C1655Y	C	+	2	0	DOCK2	169437389	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.128000	0.89595	1.119000	0.41883	0.558000	0.71614	TGC	.		0.597	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946	
DPCR1	135656	broad.mit.edu;ucsc.edu	37	6	30918300	30918300	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr6:30918300C>A	ENST00000462446.1	+	2	2087	c.2059C>A	c.(2059-2061)Cca>Aca	p.P687T	HCG21_ENST00000419481.1_RNA|DPCR1_ENST00000304311.2_5'UTR			Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1	255						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						ACAAAGGACCCCATTTGCCAA	0.498																																					p.P687T		.											.	DPCR1	90	0			c.C2059A						.						60.0	66.0	64.0					6																	30918300		692	1591	2283	SO:0001583	missense	135656	exon2			AGGACCCCATTTG	AB064272	CCDS4692.1, CCDS4692.2	6p21.32	2008-02-05			ENSG00000168631	ENSG00000168631			21666	protein-coding gene	gene with protein product		613928				12185533, 10677310	Standard	NM_080870		Approved	PBLT, bCX105N19.6	uc003nsg.2	Q3MIW9	OTTHUMG00000031104	ENST00000462446.1:c.2059C>A	6.37:g.30918300C>A	ENSP00000417182:p.Pro687Thr	136.0	2.0		209.0	33.0	NM_080870	C9IZC0|Q658M7|Q8WYN2	Missense_Mutation	SNP	ENST00000462446.1	37	CCDS4692.2	.	.	.	.	.	.	.	.	.	.	-	0.282	-0.985939	0.02180	.	.	ENSG00000168631	ENST00000462446	T	0.37752	1.18	2.16	-2.53	0.06326	.	.	.	.	.	T	0.05135	0.0137	L	0.36672	1.1	0.09310	N	0.999998	B	0.10296	0.003	B	0.06405	0.002	T	0.35025	-0.9805	9	0.06625	T	0.88	.	0.2585	0.00215	0.3695:0.2517:0.1583:0.2205	.	687	E9PEI6	.	T	687	ENSP00000417182:P687T	ENSP00000417182:P687T	P	+	1	0	DPCR1	31026279	0.001000	0.12720	0.000000	0.03702	0.025000	0.11179	-0.431000	0.06965	-0.483000	0.06772	-0.717000	0.03617	CCA	.		0.498	DPCR1-001	NOVEL	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076173.3	NM_080870	
DUSP7	1849	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	52084943	52084943	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr3:52084943C>T	ENST00000495880.1	-	3	1331	c.1148G>A	c.(1147-1149)cGg>cAg	p.R383Q	DUSP7_ENST00000296483.6_Missense_Mutation_p.R332Q			Q16829	DUS7_HUMAN	dual specificity phosphatase 7	383					inactivation of MAPK activity (GO:0000188)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of MAP kinase activity (GO:0043407)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)	p.R332Q(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CCCCAGCGTCCGCTCAAAGTC	0.552																																					p.R383Q		.											.	DUSP7	659	1	Substitution - Missense(1)	kidney(1)	c.G1148A						.						157.0	130.0	139.0					3																	52084943		2203	4300	6503	SO:0001583	missense	1849	exon3			AGCGTCCGCTCAA	X93921	CCDS33766.1, CCDS33766.2	3p21	2011-06-09			ENSG00000164086	ENSG00000164086		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3073	protein-coding gene	gene with protein product		602749				8626780, 9205128	Standard	NM_001947		Approved	MKP-X, PYST2	uc003dct.3	Q16829	OTTHUMG00000157819	ENST00000495880.1:c.1148G>A	3.37:g.52084943C>T	ENSP00000417183:p.Arg383Gln	304.0	0.0		234.0	47.0	NM_001947	Q2M3J7|Q8NFJ0	Missense_Mutation	SNP	ENST00000495880.1	37	CCDS33766.2	.	.	.	.	.	.	.	.	.	.	c	19.45	3.829829	0.71258	.	.	ENSG00000164086	ENST00000495880;ENST00000296483	D;D	0.85773	-2.03;-2.03	5.75	4.89	0.63831	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.121832	0.56097	D	0.000031	T	0.73418	0.3584	N	0.25485	0.75	0.80722	D	1	P	0.46656	0.882	B	0.33254	0.16	T	0.74542	-0.3631	10	0.37606	T	0.19	.	14.4234	0.67200	0.0:0.9285:0.0:0.0715	.	383	Q16829	DUS7_HUMAN	Q	383;332	ENSP00000417183:R383Q;ENSP00000296483:R332Q	ENSP00000296483:R332Q	R	-	2	0	DUSP7	52059983	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.083000	0.71326	1.448000	0.47680	-0.148000	0.13756	CGG	.		0.552	DUSP7-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000349697.1	NM_001947	
DYNC1I1	1780	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	95614244	95614244	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr7:95614244A>G	ENST00000324972.6	+	8	942	c.749A>G	c.(748-750)gAc>gGc	p.D250G	DYNC1I1_ENST00000537881.1_Missense_Mutation_p.D213G|DYNC1I1_ENST00000457059.1_Missense_Mutation_p.D233G|DYNC1I1_ENST00000447467.2_Missense_Mutation_p.D233G|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.D230G|DYNC1I1_ENST00000359388.4_Missense_Mutation_p.D213G	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	250					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|metabolic process (GO:0008152)|vesicle transport along microtubule (GO:0047496)	cytoplasmic dynein complex (GO:0005868)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)|spectrin binding (GO:0030507)			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			GAAGATTCCGACATCTTTTTT	0.393																																					p.D250G		.											.	DYNC1I1	94	0			c.A749G						.						111.0	114.0	113.0					7																	95614244		2203	4299	6502	SO:0001583	missense	1780	exon8			ATTCCGACATCTT	AF063228	CCDS5644.1, CCDS47645.1, CCDS47646.1, CCDS64718.1	7q21.3-q22.1	2013-01-18	2005-11-24	2005-11-24	ENSG00000158560	ENSG00000158560		"""Cytoplasmic dyneins"", ""WD repeat domain containing"""	2963	protein-coding gene	gene with protein product		603772	"""dynein, cytoplasmic, intermediate polypeptide 1"""	DNCI1		10049579, 16260502	Standard	NM_004411		Approved	DNCIC1	uc003uoc.4	O14576	OTTHUMG00000153983	ENST00000324972.6:c.749A>G	7.37:g.95614244A>G	ENSP00000320130:p.Asp250Gly	73.0	0.0		70.0	12.0	NM_004411	B4DME3|F5H050|G5E9K1|Q8TBF7|Q9Y2X1	Missense_Mutation	SNP	ENST00000324972.6	37	CCDS5644.1	.	.	.	.	.	.	.	.	.	.	A	27.4	4.826322	0.90955	.	.	ENSG00000158560	ENST00000447467;ENST00000324972;ENST00000537881;ENST00000437599;ENST00000359388;ENST00000457059	T;T;T;T;T;T	0.79454	-1.1;-1.04;-1.27;-1.04;-1.05;-1.1	4.95	4.95	0.65309	WD40 repeat-like-containing domain (1);	0.049011	0.85682	D	0.000000	D	0.82490	0.5048	M	0.79926	2.475	0.80722	D	1	B;B;B;B;B	0.28178	0.029;0.014;0.049;0.008;0.202	B;B;B;B;B	0.38842	0.047;0.101;0.101;0.047;0.283	D	0.83531	0.0091	10	0.66056	D	0.02	-17.9527	15.0944	0.72223	1.0:0.0:0.0:0.0	.	233;230;233;250;213	Q7Z6M0;G5E9K1;O14576-2;O14576;O14576-3	.;.;.;DC1I1_HUMAN;.	G	233;250;213;230;213;233	ENSP00000392337:D233G;ENSP00000320130:D250G;ENSP00000438377:D213G;ENSP00000398118:D230G;ENSP00000352348:D213G;ENSP00000412444:D233G	ENSP00000320130:D250G	D	+	2	0	DYNC1I1	95452180	1.000000	0.71417	0.993000	0.49108	0.973000	0.67179	7.312000	0.78968	2.209000	0.71365	0.533000	0.62120	GAC	.		0.393	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333432.1	NM_004411	
DYX1C1	161582	broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	55783381	55783381	+	Silent	SNP	T	T	A	rs371052810		TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr15:55783381T>A	ENST00000321149.3	-	4	712	c.345A>T	c.(343-345)acA>acT	p.T115T	DYX1C1-CCPG1_ENST00000565113.1_RNA|DYX1C1_ENST00000448430.2_Silent_p.T115T|DYX1C1_ENST00000348518.3_Silent_p.T115T|DYX1C1_ENST00000457155.2_Silent_p.T115T|DYX1C1_ENST00000380679.1_Silent_p.T115T	NM_130810.3	NP_570722.2	Q8WXU2	DYXC1_HUMAN	dyslexia susceptibility 1 candidate 1	115					cilium movement (GO:0003341)|determination of left/right symmetry (GO:0007368)|inner dynein arm assembly (GO:0036159)|neuron migration (GO:0001764)|outer dynein arm assembly (GO:0036158)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of proteasomal protein catabolic process (GO:0061136)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	estrogen receptor binding (GO:0030331)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18				all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)		CTTTTGCTTCTGTAGCTTCTT	0.358																																					p.T115T		.											.	DYX1C1	91	0			c.A345T						.						273.0	226.0	242.0					15																	55783381		2193	4292	6485	SO:0001819	synonymous_variant	161582	exon4			TGCTTCTGTAGCT		CCDS10154.1, CCDS32243.1, CCDS32244.1	15q21.3	2014-09-11			ENSG00000256061	ENSG00000256061		"""Tetratricopeptide (TTC) repeat domain containing"""	21493	protein-coding gene	gene with protein product		608706				12954984	Standard	NM_130810		Approved	EKN1, FLJ37882, CILD25	uc002adc.3	Q8WXU2	OTTHUMG00000132008	ENST00000321149.3:c.345A>T	15.37:g.55783381T>A		201.0	1.0		236.0	39.0	NM_001033560	Q6P5Y9|Q8N1S6	Silent	SNP	ENST00000321149.3	37	CCDS10154.1																																																																																			.		0.358	DYX1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254976.1	NM_130810	
EBF1	1879	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	158250310	158250310	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr5:158250310T>C	ENST00000313708.6	-	8	934	c.652A>G	c.(652-654)Aca>Gca	p.T218A	EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000380654.4_Missense_Mutation_p.T195A|EBF1_ENST00000517373.1_Missense_Mutation_p.T218A	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	218					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACATTGACTGTCGTAGACACC	0.438			T	HMGA2	lipoma																																p.T218A		.		Dom	yes		5	5q34	1879	early B-cell factor 1		M	.	EBF1	92	0			c.A652G						.						72.0	58.0	63.0					5																	158250310		2203	4300	6503	SO:0001583	missense	1879	exon8			TGACTGTCGTAGA	AF208502	CCDS4343.1	5q34	2008-02-05	2006-09-26	2006-09-26	ENSG00000164330	ENSG00000164330			3126	protein-coding gene	gene with protein product		164343	"""early B-cell factor"""	EBF		8012110	Standard	NM_024007		Approved	OLF1	uc010jip.3	Q9UH73	OTTHUMG00000130304	ENST00000313708.6:c.652A>G	5.37:g.158250310T>C	ENSP00000322898:p.Thr218Ala	93.0	0.0		135.0	20.0	NM_024007	Q8IW11	Missense_Mutation	SNP	ENST00000313708.6	37	CCDS4343.1	.	.	.	.	.	.	.	.	.	.	T	18.26	3.584095	0.65992	.	.	ENSG00000164330	ENST00000318060;ENST00000313708;ENST00000380654;ENST00000517373	T;T;T	0.47869	0.89;0.83;0.9	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.62502	0.2433	M	0.62016	1.91	0.58432	D	0.999997	B;P;B;B	0.45212	0.003;0.853;0.016;0.215	B;P;B;B	0.56127	0.003;0.792;0.022;0.209	T	0.65487	-0.6156	10	0.72032	D	0.01	-4.0874	15.6488	0.77076	0.0:0.0:0.0:1.0	.	218;204;218;195	A8K0Z7;B4E2U8;Q9UH73;Q9UH73-2	.;.;COE1_HUMAN;.	A	218;218;195;218	ENSP00000322898:T218A;ENSP00000370029:T195A;ENSP00000428020:T218A	ENSP00000322898:T218A	T	-	1	0	EBF1	158182888	1.000000	0.71417	0.992000	0.48379	0.989000	0.77384	8.036000	0.88901	2.069000	0.61940	0.533000	0.62120	ACA	.		0.438	EBF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252649.1	NM_024007	
ECHS1	1892	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	135179489	135179489	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr10:135179489C>G	ENST00000368547.3	-	6	1085	c.730G>C	c.(730-732)Gtg>Ctg	p.V244L		NM_004092.3	NP_004083.3	P30084	ECHM_HUMAN	enoyl CoA hydratase, short chain, 1, mitochondrial	244					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enoyl-CoA hydratase activity (GO:0004300)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)	10		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;1.62e-06)|OV - Ovarian serous cystadenocarcinoma(35;5.75e-06)|Epithelial(32;7.58e-06)		CCTGCATTCACTGATTCTTTG	0.483																																					p.V244L	GBM(132;1720 1771 5373 10277 21402)	.											.	ECHS1	90	0			c.G730C						.						212.0	176.0	188.0					10																	135179489		2202	4300	6502	SO:0001583	missense	1892	exon6			CATTCACTGATTC		CCDS7681.1	10q26.2-q26.3	2010-05-04	2010-04-30		ENSG00000127884	ENSG00000127884	4.2.1.17		3151	protein-coding gene	gene with protein product		602292	"""enoyl Coenzyme A hydratase, short chain, 1, mitochondrial"""			8012501	Standard	NM_004092		Approved	SCEH	uc001lmu.3	P30084	OTTHUMG00000019320	ENST00000368547.3:c.730G>C	10.37:g.135179489C>G	ENSP00000357535:p.Val244Leu	101.0	0.0		100.0	18.0	NM_004092	O00739|Q5VWY1|Q96H54	Missense_Mutation	SNP	ENST00000368547.3	37	CCDS7681.1	.	.	.	.	.	.	.	.	.	.	C	19.09	3.760004	0.69763	.	.	ENSG00000127884	ENST00000368547	T	0.67698	-0.28	5.39	5.39	0.77823	Crontonase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.63604	0.2525	L	0.34521	1.04	0.80722	D	1	B	0.28233	0.204	B	0.38755	0.281	T	0.65076	-0.6256	10	0.72032	D	0.01	.	15.0604	0.71947	0.0:1.0:0.0:0.0	.	244	P30084	ECHM_HUMAN	L	244	ENSP00000357535:V244L	ENSP00000357535:V244L	V	-	1	0	ECHS1	135029479	0.999000	0.42202	0.993000	0.49108	0.944000	0.59088	4.484000	0.60271	2.701000	0.92244	0.555000	0.69702	GTG	.		0.483	ECHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051156.1		
EFEMP1	2202	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	56108782	56108782	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr2:56108782G>A	ENST00000394555.2	-	5	1040	c.605C>T	c.(604-606)cCt>cTt	p.P202L	EFEMP1_ENST00000394554.1_Missense_Mutation_p.P202L|EFEMP1_ENST00000424836.2_Missense_Mutation_p.P144L|EFEMP1_ENST00000355426.3_Missense_Mutation_p.P202L	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	202	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|negative regulation of chondrocyte differentiation (GO:0032331)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|epidermal growth factor-activated receptor activity (GO:0005006)			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ATATCCAGGAGGGCACTGACA	0.512																																					p.P202L	GBM(92;934 1319 7714 28760 40110)	.											.	EFEMP1	520	0			c.C605T						.						242.0	178.0	199.0					2																	56108782		2203	4300	6503	SO:0001583	missense	2202	exon5			CCAGGAGGGCACT	U03877	CCDS1857.1	2p16	2013-01-08	2011-01-25		ENSG00000115380	ENSG00000115380		"""Fibulins"""	3218	protein-coding gene	gene with protein product	"""fibulin 3"""	601548	"""fibrillin-like"", ""EGF-containing fibulin-like extracellular matrix protein 1"""	DHRD, FBNL		8812496, 7799918	Standard	NM_001039348		Approved	S1-5, FBLN3, MTLV	uc002rzi.3	Q12805	OTTHUMG00000129343	ENST00000394555.2:c.605C>T	2.37:g.56108782G>A	ENSP00000378058:p.Pro202Leu	181.0	0.0		220.0	47.0	NM_001039349	A8K3I4|B4DW75|D6W5D2|Q541U7	Missense_Mutation	SNP	ENST00000394555.2	37	CCDS1857.1	.	.	.	.	.	.	.	.	.	.	G	6.568	0.473090	0.12461	.	.	ENSG00000115380	ENST00000394555;ENST00000394554;ENST00000405693;ENST00000424836;ENST00000355426	D;D;D;D	0.92299	-3.01;-3.01;-3.01;-3.01	5.71	-2.15	0.07102	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.308277	0.28011	N	0.016958	D	0.84165	0.5412	L	0.55743	1.74	0.22213	N	0.999282	B;B	0.16166	0.016;0.0	B;B	0.10450	0.005;0.004	T	0.67780	-0.5582	10	0.24483	T	0.36	.	2.196	0.03911	0.2975:0.0908:0.4272:0.1846	.	144;202	B4DW75;Q12805	.;FBLN3_HUMAN	L	202;202;58;144;202	ENSP00000378058:P202L;ENSP00000378057:P202L;ENSP00000399145:P144L;ENSP00000347596:P202L	ENSP00000347596:P202L	P	-	2	0	EFEMP1	55962286	0.002000	0.14202	0.053000	0.19242	0.052000	0.14988	-0.135000	0.10420	-0.136000	0.11475	-0.143000	0.13931	CCT	.		0.512	EFEMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251491.2		
EIF3D	8664	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	22	36920731	36920731	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr22:36920731T>C	ENST00000216190.8	-	4	588	c.218A>G	c.(217-219)cAt>cGt	p.H73R	EIF3D_ENST00000541106.1_Intron|EIF3D_ENST00000405442.1_Missense_Mutation_p.H73R	NM_003753.3	NP_003744.1			eukaryotic translation initiation factor 3, subunit D											cervix(1)|endometrium(2)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	15						ATCCTCCTCATGGAAATAAGC	0.498																																					p.H73R		.											.	EIF3D	69	0			c.A218G						.						236.0	208.0	218.0					22																	36920731		2203	4300	6503	SO:0001583	missense	8664	exon4			TCCTCATGGAAAT	U54558	CCDS13930.1	22q13.1	2007-07-27	2007-07-27	2007-07-27	ENSG00000100353	ENSG00000100353			3278	protein-coding gene	gene with protein product		603915	"""eukaryotic translation initiation factor 3, subunit 7 zeta, 66/67kDa"""	EIF3S7		9341143	Standard	NM_003753		Approved	eIF3-p66, eIF3-zeta, eIF3d	uc003apr.3	O15371	OTTHUMG00000150599	ENST00000216190.8:c.218A>G	22.37:g.36920731T>C	ENSP00000216190:p.His73Arg	147.0	0.0		210.0	42.0	NM_003753		Missense_Mutation	SNP	ENST00000216190.8	37	CCDS13930.1	.	.	.	.	.	.	.	.	.	.	T	29.7	5.026903	0.93518	.	.	ENSG00000100353	ENST00000216190;ENST00000397177;ENST00000405442;ENST00000455547;ENST00000457241;ENST00000432675;ENST00000402116	.	.	.	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.83640	0.5298	M	0.87456	2.885	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.83192	-0.0083	9	0.30078	T	0.28	-40.7054	16.5582	0.84512	0.0:0.0:0.0:1.0	.	73	O15371	EIF3D_HUMAN	R	73	.	ENSP00000216190:H73R	H	-	2	0	EIF3D	35250677	1.000000	0.71417	0.976000	0.42696	0.987000	0.75469	7.755000	0.85180	2.308000	0.77769	0.533000	0.62120	CAT	.		0.498	EIF3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319026.1		
EIF4E1B	253314	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	176072878	176072878	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	A	A	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr5:176072878A>G	ENST00000318682.6	+	9	1210	c.626A>G	c.(625-627)aAa>aGa	p.K209R	TSPAN17_ENST00000515708.1_5'Flank|TSPAN17_ENST00000310032.8_5'Flank|EIF4E1B_ENST00000512734.1_3'UTR|TSPAN17_ENST00000298564.10_5'Flank|TSPAN17_ENST00000508164.1_5'Flank|TSPAN17_ENST00000405525.2_5'Flank|EIF4E1B_ENST00000504597.1_Missense_Mutation_p.K209R|TSPAN17_ENST00000503045.1_5'Flank	NM_001099408.1	NP_001092878.1	A6NMX2	I4E1B_HUMAN	eukaryotic translation initiation factor 4E family member 1B	209					regulation of translation (GO:0006417)	cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)	translation initiation factor activity (GO:0003743)			breast(1)|large_intestine(1)|lung(2)|pancreas(1)	5	all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGTGTATACAAAGAGCGCCTG	0.552																																					p.K209R		.											.	.	.	0			c.A626G						.						20.0	23.0	22.0					5																	176072878		1913	4109	6022	SO:0001583	missense	253314	exon9			TATACAAAGAGCG		CCDS47345.1	5q35.2	2008-06-12			ENSG00000175766	ENSG00000175766			33179	protein-coding gene	gene with protein product						16191198	Standard	NM_001099408		Approved	FLJ36951	uc010jkf.1	A6NMX2	OTTHUMG00000163227	ENST00000318682.6:c.626A>G	5.37:g.176072878A>G	ENSP00000323714:p.Lys209Arg	229.0	1.0		261.0	49.0	NM_001099408		Missense_Mutation	SNP	ENST00000318682.6	37	CCDS47345.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.971994	0.74246	.	.	ENSG00000175766	ENST00000318682;ENST00000504597;ENST00000505497	T;T	0.47869	0.83;0.83	5.18	5.18	0.71444	Translation Initiation factor eIF- 4e-like  domain (2);	0.000000	0.85682	D	0.000000	T	0.66665	0.2812	M	0.73598	2.24	0.58432	D	0.999996	D	0.59357	0.985	D	0.76575	0.988	T	0.65413	-0.6174	10	0.29301	T	0.29	.	14.0176	0.64533	1.0:0.0:0.0:0.0	.	209	A6NMX2	I4E1B_HUMAN	R	209;209;137	ENSP00000323714:K209R;ENSP00000427633:K209R	ENSP00000323714:K209R	K	+	2	0	EIF4E1B	176005484	1.000000	0.71417	0.879000	0.34478	0.725000	0.41563	6.744000	0.74854	1.952000	0.56665	0.459000	0.35465	AAA	.		0.552	EIF4E1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372187.1	NM_001099408	
ELL	8178	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	18576653	18576653	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr19:18576653C>T	ENST00000262809.4	-	3	330	c.259G>A	c.(259-261)Gac>Aac	p.D87N	ELL_ENST00000596124.3_5'UTR	NM_006532.3	NP_006523.1	P55199	ELL_HUMAN	elongation factor RNA polymerase II	87					gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of viral transcription (GO:0050434)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	phosphatase binding (GO:0019902)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1)	19				GBM - Glioblastoma multiforme(1328;7.81e-07)		TGGGGGTTGTCGCGGCCGATG	0.677			T	MLL	AL																																p.D87N		.		Dom	yes		19	19p13.1	8178	ELL gene (11-19 lysine-rich leukemia gene)		L	.	ELL	1082	0			c.G259A						.						38.0	41.0	40.0					19																	18576653		2203	4300	6503	SO:0001583	missense	8178	exon3			GGTTGTCGCGGCC	U16282	CCDS12380.1	19p13.1	2012-04-17	2005-05-23			ENSG00000105656		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	23114	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 68"""	600284	"""chromosome 19 open reading frame 17"""	C19orf17		7991593, 8596958	Standard	NM_006532		Approved	Men, ELL1, PPP1R68	uc002njh.3	P55199		ENST00000262809.4:c.259G>A	19.37:g.18576653C>T	ENSP00000262809:p.Asp87Asn	75.0	0.0		57.0	7.0	NM_006532		Missense_Mutation	SNP	ENST00000262809.4	37	CCDS12380.1	.	.	.	.	.	.	.	.	.	.	c	27.9	4.875515	0.91664	.	.	ENSG00000105656	ENST00000262809	T	0.34472	1.36	3.82	3.82	0.43975	.	0.000000	0.85682	D	0.000000	T	0.58666	0.2138	M	0.72118	2.19	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.65352	-0.6189	10	0.87932	D	0	-28.1359	14.9121	0.70767	0.0:1.0:0.0:0.0	.	31;87	Q59HG4;P55199	.;ELL_HUMAN	N	87	ENSP00000262809:D87N	ENSP00000262809:D87N	D	-	1	0	ELL	18437653	1.000000	0.71417	0.936000	0.37596	0.835000	0.47333	7.364000	0.79526	1.974000	0.57490	0.479000	0.44913	GAC	.		0.677	ELL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466362.1	NM_006532	
EML5	161436	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	89202777	89202777	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr14:89202777T>A	ENST00000380664.5	-	7	979	c.980A>T	c.(979-981)gAa>gTa	p.E327V	EML5_ENST00000554922.1_Missense_Mutation_p.E327V|EML5_ENST00000352093.5_Missense_Mutation_p.E327V			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	327						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)			breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TGCCCAAAGTTCACCTTCACA	0.398																																					p.E327V		.											.	EML5	93	0			c.A980T						.						211.0	205.0	207.0					14																	89202777		1926	4124	6050	SO:0001583	missense	161436	exon7			CAAAGTTCACCTT	AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"""WD repeat domain containing"""	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.980A>T	14.37:g.89202777T>A	ENSP00000370039:p.Glu327Val	185.0	0.0		185.0	38.0	NM_183387	B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Missense_Mutation	SNP	ENST00000380664.5	37	CCDS45148.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.471295	0.84533	.	.	ENSG00000165521	ENST00000554922;ENST00000352093;ENST00000380664	T;T;T	0.60171	0.21;0.21;0.21	5.06	5.06	0.68205	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (2);WD40-repeat-containing domain (1);	0.121386	0.53938	D	0.000042	T	0.72914	0.3520	M	0.68593	2.085	0.58432	D	0.999998	D	0.71674	0.998	D	0.70016	0.967	T	0.74774	-0.3551	10	0.51188	T	0.08	-27.7062	14.9672	0.71204	0.0:0.0:0.0:1.0	.	327	Q05BV3	EMAL5_HUMAN	V	327	ENSP00000451998:E327V;ENSP00000298315:E327V;ENSP00000370039:E327V	ENSP00000298315:E327V	E	-	2	0	EML5	88272530	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.525000	0.81892	2.128000	0.65567	0.482000	0.46254	GAA	.		0.398	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410491.1		
ENTPD1	953	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	97626020	97626020	+	Silent	SNP	T	T	C			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr10:97626020T>C	ENST00000371205.4	+	10	1696	c.1413T>C	c.(1411-1413)ccT>ccC	p.P471P	ENTPD1_ENST00000539125.1_Silent_p.P333P|ENTPD1_ENST00000543964.1_Silent_p.P363P|ENTPD1-AS1_ENST00000451364.1_RNA|RP11-429G19.3_ENST00000433113.1_RNA|ENTPD1_ENST00000453258.2_Silent_p.P478P|ENTPD1_ENST00000371207.3_Silent_p.P483P|RP11-248J23.7_ENST00000491114.1_Intron|ENTPD1_ENST00000371203.5_Silent_p.P333P|ENTPD1-AS1_ENST00000416301.1_RNA			P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	471					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|purine ribonucleoside diphosphate catabolic process (GO:0009181)	basal lamina (GO:0005605)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		TGTCCACACCTCTCTCCCACT	0.517																																					p.P483P		.											.	ENTPD1	93	0			c.T1449C						.						282.0	218.0	240.0					10																	97626020		2203	4300	6503	SO:0001819	synonymous_variant	953	exon10			CACACCTCTCTCC	S73813	CCDS7444.1, CCDS53556.1, CCDS53557.1, CCDS53558.1, CCDS41554.1	10q24.1	2014-03-03			ENSG00000138185	ENSG00000138185		"""CD molecules"""	3363	protein-coding gene	gene with protein product		601752		CD39		9226376, 24482476	Standard	NM_001098175		Approved	NTPDase-1, ATPDase, SPG64	uc010qoj.2	P49961	OTTHUMG00000018818	ENST00000371205.4:c.1413T>C	10.37:g.97626020T>C		536.0	2.0		672.0	87.0	NM_001164178	A9Z1X8|B4DWB9|B4E1X1|B7Z599|G3XAF6|Q5T561|Q5T562|Q86VV3|Q9UQQ9|Q9Y3Q9	Silent	SNP	ENST00000371205.4	37	CCDS7444.1																																																																																			.		0.517	ENTPD1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049566.1	NM_001776	
ESRRG	2104	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	1	216850694	216850694	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr1:216850694C>T	ENST00000408911.3	-	2	349	c.196G>A	c.(196-198)Ggg>Agg	p.G66R	ESRRG_ENST00000359162.2_Missense_Mutation_p.G43R|ESRRG_ENST00000366940.2_Missense_Mutation_p.G43R|ESRRG_ENST00000361395.2_Missense_Mutation_p.G43R|ESRRG_ENST00000366938.2_Missense_Mutation_p.G43R|ESRRG_ENST00000463665.1_Missense_Mutation_p.G43R|ESRRG_ENST00000366937.1_Missense_Mutation_p.G71R|ESRRG_ENST00000360012.3_Missense_Mutation_p.G43R|ESRRG_ENST00000493748.1_Missense_Mutation_p.G43R|ESRRG_ENST00000361525.3_Missense_Mutation_p.G43R|ESRRG_ENST00000487276.1_Missense_Mutation_p.G43R|ESRRG_ENST00000391890.3_Missense_Mutation_p.G43R|ESRRG_ENST00000493603.1_Missense_Mutation_p.G43R	NM_001438.3	NP_001429.2	P62508	ERR3_HUMAN	estrogen-related receptor gamma	66					gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	AF-2 domain binding (GO:0050682)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	CTGTAGCTCCCACTGGCGTCT	0.577																																					p.G71R		.											.	ESRRG	187	0			c.G211A						.						118.0	105.0	109.0					1																	216850694		2203	4300	6503	SO:0001583	missense	2104	exon3			AGCTCCCACTGGC	AF058291	CCDS1517.1, CCDS41468.1, CCDS58060.1, CCDS58061.1	1q41	2014-02-18			ENSG00000196482	ENSG00000196482		"""Nuclear hormone receptors"""	3474	protein-coding gene	gene with protein product		602969				9676434, 10072763	Standard	NM_001243505		Approved	NR3B3	uc001hkw.2	P62508	OTTHUMG00000037025	ENST00000408911.3:c.196G>A	1.37:g.216850694C>T	ENSP00000386171:p.Gly66Arg	387.0	0.0		658.0	57.0	NM_001243518	A8K4I0|A8K6I2|B3KY84|E9PGB7|F8W8J3|O75454|O96021|Q68DA0|Q6P274|Q6PK28|Q6TS38|Q9R1F3|Q9UNJ4	Missense_Mutation	SNP	ENST00000408911.3	37	CCDS41468.1	.	.	.	.	.	.	.	.	.	.	C	35	5.473063	0.96274	.	.	ENSG00000196482	ENST00000361525;ENST00000366940;ENST00000366937;ENST00000408911;ENST00000359162;ENST00000361395;ENST00000366938;ENST00000360012;ENST00000493603;ENST00000391890;ENST00000463665;ENST00000487276;ENST00000354407;ENST00000493748;ENST00000475275;ENST00000469486;ENST00000459955;ENST00000481543	D;D;D;D;D;D;D;D;D;D;D;D;D;D;T;T;T	0.94828	-3.16;-3.16;-3.16;-3.17;-3.16;-3.16;-3.16;-3.16;-3.16;-3.18;-3.53;-3.16;-3.16;-2.98;0.34;0.13;0.07	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	D	0.96568	0.8880	L	0.54323	1.7	0.80722	D	1	D;D;D	0.89917	0.983;1.0;1.0	P;D;D	0.91635	0.852;0.999;0.996	D	0.94728	0.7907	10	0.32370	T	0.25	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	43;71;66	E9PGB7;F8W8J3;P62508	.;.;ERR3_HUMAN	R	43;43;71;66;43;43;43;43;43;43;43;43;43;43;43;43;43;43	ENSP00000355225:G43R;ENSP00000355907:G43R;ENSP00000355904:G71R;ENSP00000386171:G66R;ENSP00000352077:G43R;ENSP00000354584:G43R;ENSP00000355905:G43R;ENSP00000353108:G43R;ENSP00000419594:G43R;ENSP00000375761:G43R;ENSP00000418629:G43R;ENSP00000419155:G43R;ENSP00000417374:G43R;ENSP00000419514:G43R;ENSP00000417900:G43R;ENSP00000420370:G43R;ENSP00000418895:G43R	ENSP00000346386:G43R	G	-	1	0	ESRRG	214917317	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.677000	0.84024	2.937000	0.99478	0.650000	0.86243	GGG	.		0.577	ESRRG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089882.2	NM_206595	
FAM114A1	92689	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	38910313	38910313	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr4:38910313A>G	ENST00000358869.2	+	7	934	c.758A>G	c.(757-759)aAg>aGg	p.K253R	FAM114A1_ENST00000515037.1_Missense_Mutation_p.K46R	NM_138389.2	NP_612398.2	Q8IWE2	NXP20_HUMAN	family with sequence similarity 114, member A1	253						cytoplasm (GO:0005737)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	20						AAGCGGACCAAGACGCTCATG	0.388																																					p.K253R		.											.	FAM114A1	69	0			c.A758G						.						81.0	78.0	79.0					4																	38910313		2203	4300	6503	SO:0001583	missense	92689	exon7			GGACCAAGACGCT		CCDS3447.1	4p14	2006-09-21			ENSG00000197712	ENSG00000197712			25087	protein-coding gene	gene with protein product							Standard	NM_138389		Approved	Noxp20	uc003gtn.3	Q8IWE2	OTTHUMG00000128583	ENST00000358869.2:c.758A>G	4.37:g.38910313A>G	ENSP00000351740:p.Lys253Arg	141.0	0.0		147.0	22.0	NM_138389	A8K9W6|Q6MZV4|Q9BVL6	Missense_Mutation	SNP	ENST00000358869.2	37	CCDS3447.1	.	.	.	.	.	.	.	.	.	.	A	29.5	5.009511	0.93346	.	.	ENSG00000197712	ENST00000515037;ENST00000358869;ENST00000355404	T;T	0.42900	0.96;0.96	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.53965	0.1829	L	0.37697	1.125	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.43523	-0.9386	10	0.17832	T	0.49	-26.8338	16.8222	0.85835	1.0:0.0:0.0:0.0	.	253	Q8IWE2	NXP20_HUMAN	R	46;253;46	ENSP00000424115:K46R;ENSP00000351740:K253R	ENSP00000347569:K46R	K	+	2	0	FAM114A1	38586708	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.339000	0.96797	2.371000	0.80710	0.533000	0.62120	AAG	.		0.388	FAM114A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250436.1	NM_138389	
FAM133A	286499	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	92964819	92964819	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	A	A	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chrX:92964819A>G	ENST00000355813.5	+	4	927	c.401A>G	c.(400-402)aAg>aGg	p.K134R	FAM133A_ENST00000322139.4_Missense_Mutation_p.K134R|FAM133A_ENST00000332647.4_Missense_Mutation_p.K134R|FAM133A_ENST00000538690.1_Missense_Mutation_p.K134R	NM_001171109.1|NM_173698.2	NP_001164580.1|NP_775969.1	Q8N9E0	F133A_HUMAN	family with sequence similarity 133, member A	134	Lys-rich.|Ser-rich.									breast(2)|endometrium(2)|large_intestine(8)|lung(7)|upper_aerodigestive_tract(1)	20						AGAAAGAAAAAGAAGAACCGT	0.378																																					p.K134R		.											.	FAM133A	130	0			c.A401G						.						26.0	22.0	24.0					X																	92964819		2198	4287	6485	SO:0001583	missense	286499	exon4			AGAAAAAGAAGAA	AK094978	CCDS14466.1	Xq21.32	2010-05-04			ENSG00000179083	ENSG00000179083			26748	protein-coding gene	gene with protein product	"""cancer/testis antigen 115"""						Standard	NM_173698		Approved	RP1-32F7.2, FLJ37659, CT115	uc022bzv.1	Q8N9E0	OTTHUMG00000021975	ENST00000355813.5:c.401A>G	X.37:g.92964819A>G	ENSP00000348067:p.Lys134Arg	45.0	1.0		40.0	12.0	NM_173698		Missense_Mutation	SNP	ENST00000355813.5	37	CCDS14466.1	.	.	.	.	.	.	.	.	.	.	a	12.66	2.006042	0.35415	.	.	ENSG00000179083	ENST00000538690;ENST00000355813;ENST00000322139;ENST00000332647	T;T;T;T	0.56611	0.45;0.45;0.45;0.45	2.87	2.87	0.33458	.	0.106971	0.64402	D	0.000007	T	0.61677	0.2366	L	0.56396	1.775	0.22803	N	0.998716	D	0.67145	0.996	D	0.73708	0.981	T	0.47471	-0.9115	10	0.40728	T	0.16	-4.8446	6.6665	0.23042	1.0:0.0:0.0:0.0	.	134	Q8N9E0	F133A_HUMAN	R	134	ENSP00000441389:K134R;ENSP00000348067:K134R;ENSP00000318974:K134R;ENSP00000362169:K134R	ENSP00000318974:K134R	K	+	2	0	FAM133A	92851475	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	1.388000	0.34442	1.373000	0.46208	0.414000	0.27820	AAG	.		0.378	FAM133A-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057452.1	NM_173698	
NUTM2F	54754	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	9	97082514	97082514	+	Silent	SNP	A	A	G			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr9:97082514A>G	ENST00000253262.4	-	5	1364	c.1344T>C	c.(1342-1344)tgT>tgC	p.C448C	NUTM2F_ENST00000341207.4_Silent_p.C433C|NUTM2F_ENST00000335456.7_Silent_p.C433C	NM_017561.1	NP_060031.1	A1L443	NTM2F_HUMAN	NUT family member 2F	448																	CTTCCTGGGAACACAGCTTGT	0.567																																					p.C448C		.											.	FAM22F	68	0			c.T1344C						.						44.0	54.0	51.0					9																	97082514		1897	4108	6005	SO:0001819	synonymous_variant	54754	exon5			CTGGGAACACAGC		CCDS47994.1	9q22.32	2013-05-02	2013-03-14	2013-05-02	ENSG00000130950	ENSG00000130950			23450	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member F"""	FAM22F			Standard	NM_017561		Approved	DKFZp434I1117		A1L443	OTTHUMG00000020260	ENST00000253262.4:c.1344T>C	9.37:g.97082514A>G		150.0	0.0		118.0	24.0	NM_017561	B6ZDF0|Q5SR58|Q5SR59|Q9UFB1	Silent	SNP	ENST00000253262.4	37	CCDS47994.1																																																																																			.		0.567	NUTM2F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053173.2	NM_017561	
FAM47A	158724	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	34150303	34150303	+	Silent	SNP	C	C	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chrX:34150303C>T	ENST00000346193.3	-	1	144	c.93G>A	c.(91-93)gcG>gcA	p.A31A		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	31										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GCTTGCACTTCGCGAAGCACT	0.617																																					p.A31A		.											.	FAM47A	134	0			c.G93A						.						56.0	55.0	55.0					X																	34150303		2202	4300	6502	SO:0001819	synonymous_variant	158724	exon1			GCACTTCGCGAAG	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.93G>A	X.37:g.34150303C>T		284.0	1.0		270.0	39.0	NM_203408	A8K8I9|Q8TAA0	Silent	SNP	ENST00000346193.3	37	CCDS43926.1																																																																																			.		0.617	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408	
FAM65C	140876	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	49212742	49212742	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr20:49212742C>T	ENST00000327979.2	-	15	2248	c.1837G>A	c.(1837-1839)Gcc>Acc	p.A613T	FAM65C_ENST00000535356.1_Missense_Mutation_p.A617T|FAM65C_ENST00000045083.2_Missense_Mutation_p.A613T			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	613										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGGGCACCGGCTGTGAGTTCC	0.592																																					p.A613T		.											.	FAM65C	92	0			c.G1837A						.						67.0	74.0	72.0					20																	49212742		2001	4164	6165	SO:0001583	missense	140876	exon15			CACCGGCTGTGAG	AL133230	CCDS13431.2	20q13.13	2011-11-24	2008-06-13	2008-06-13	ENSG00000042062	ENSG00000042062			16168	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 175"", ""chromosome 20 open reading frame 176"""	C20orf175, C20orf176			Standard	XM_005260294		Approved	dJ530I15.2, dJ530I15.3	uc002xvm.3	Q96MK2	OTTHUMG00000032724	ENST00000327979.2:c.1837G>A	20.37:g.49212742C>T	ENSP00000332663:p.Ala613Thr	115.0	0.0		147.0	19.0	NM_080829	Q5QPB6|Q9NQQ2	Missense_Mutation	SNP	ENST00000327979.2	37	CCDS13431.2	.	.	.	.	.	.	.	.	.	.	C	0.062	-1.221873	0.01530	.	.	ENSG00000042062	ENST00000327979;ENST00000045083;ENST00000535356	D;D;D	0.82984	-1.67;-1.67;-1.67	5.24	4.3	0.51218	.	0.289381	0.25604	U	0.029529	T	0.65749	0.2721	N	0.22421	0.69	0.09310	N	0.999991	B;B	0.06786	0.0;0.001	B;B	0.10450	0.005;0.003	T	0.49762	-0.8905	10	0.02654	T	1	-16.7173	7.3535	0.26706	0.0:0.7646:0.0:0.2354	.	617;613	F5H0X2;Q96MK2	.;FA65C_HUMAN	T	613;613;617	ENSP00000332663:A613T;ENSP00000045083:A613T;ENSP00000439802:A617T	ENSP00000045083:A613T	A	-	1	0	FAM65C	48646149	0.054000	0.20591	0.889000	0.34880	0.057000	0.15508	0.723000	0.25939	1.210000	0.43336	0.561000	0.74099	GCC	.		0.592	FAM65C-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257962.1		
FAM71E2	284418	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	55871144	55871144	+	Silent	SNP	G	G	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr19:55871144G>A	ENST00000424985.3	-	9	1285	c.1092C>T	c.(1090-1092)ccC>ccT	p.P364P	CTD-2105E13.6_ENST00000591954.3_5'Flank	NM_001145402.1	NP_001138874.1	Q8N5Q1	F71E2_HUMAN	family with sequence similarity 71, member E2	364	Pro-rich.									NS(1)|breast(3)|endometrium(2)|kidney(1)|skin(1)	8						CCGGGGGATAGGGAGCCAGAC	0.677																																					p.P364P		.											.	.	.	0			c.C1092T						.						28.0	37.0	34.0					19																	55871144		692	1591	2283	SO:0001819	synonymous_variant	284418	exon9			GGGATAGGGAGCC	AL834316		19q13.42	2014-04-02	2007-11-20	2007-11-20	ENSG00000180043	ENSG00000180043			25278	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 16"""	C19orf16			Standard	NM_001145402		Approved	DKFZp434G1729	uc002qkr.2	Q8N5Q1	OTTHUMG00000170357	ENST00000424985.3:c.1092C>T	19.37:g.55871144G>A		141.0	0.0		159.0	16.0	NM_001145402	Q8ND99	Silent	SNP	ENST00000424985.3	37																																																																																				.		0.677	FAM71E2-010	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000409063.4	NM_001145402	
FAM81B	153643	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	94749823	94749823	+	Missense_Mutation	SNP	G	G	T	rs202064996		TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr5:94749823G>T	ENST00000283357.5	+	4	512	c.466G>T	c.(466-468)Gcc>Tcc	p.A156S		NM_152548.2	NP_689761	Q96LP2	FA81B_HUMAN	family with sequence similarity 81, member B	156						nucleus (GO:0005634)		p.A156T(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		GGAATCGCTCGCCAGGAAGTT	0.458																																					p.A156S		.											.	FAM81B	92	1	Substitution - Missense(1)	large_intestine(1)	c.G466T						.						94.0	95.0	95.0					5																	94749823		1977	4164	6141	SO:0001583	missense	153643	exon4			TCGCTCGCCAGGA		CCDS43341.1	5q15	2008-02-05			ENSG00000153347	ENSG00000153347			26335	protein-coding gene	gene with protein product							Standard	NM_152548		Approved	FLJ25333	uc003kla.1	Q96LP2	OTTHUMG00000162837	ENST00000283357.5:c.466G>T	5.37:g.94749823G>T	ENSP00000283357:p.Ala156Ser	158.0	0.0		189.0	36.0	NM_152548		Missense_Mutation	SNP	ENST00000283357.5	37	CCDS43341.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.399513	0.62177	.	.	ENSG00000153347	ENST00000283357	T	0.21932	1.98	5.53	3.72	0.42706	.	0.057016	0.64402	D	0.000002	T	0.37999	0.1024	M	0.66939	2.045	0.34388	D	0.693884	D	0.71674	0.998	P	0.61533	0.89	T	0.50039	-0.8874	10	0.48119	T	0.1	-9.6175	11.8194	0.52230	0.1296:0.0:0.8704:0.0	.	156	Q96LP2	FA81B_HUMAN	S	156	ENSP00000283357:A156S	ENSP00000283357:A156S	A	+	1	0	FAM81B	94775579	1.000000	0.71417	0.985000	0.45067	0.379000	0.30106	3.689000	0.54706	2.602000	0.87976	0.650000	0.86243	GCC	G|0.999;A|0.000		0.458	FAM81B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370690.1	NM_152548	
FAT2	2196	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	150945319	150945319	+	Silent	SNP	G	G	A	rs542235186	byFrequency	TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr5:150945319G>A	ENST00000261800.5	-	1	3186	c.3174C>T	c.(3172-3174)gaC>gaT	p.D1058D		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1058	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CACTGTCATCGTCCTGGGCAG	0.602													G|||	2	0.000399361	0.0008	0.0	5008	,	,		14351	0.0		0.0	False		,,,				2504	0.001				p.D1058D		.											.	FAT2	96	0			c.C3174T						.						60.0	58.0	59.0					5																	150945319		2203	4300	6503	SO:0001819	synonymous_variant	2196	exon1			GTCATCGTCCTGG	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.3174C>T	5.37:g.150945319G>A		155.0	0.0		136.0	20.0	NM_001447	O75091|Q9NSR7	Silent	SNP	ENST00000261800.5	37	CCDS4317.1																																																																																			.		0.602	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447	
FAXC	84553	broad.mit.edu;ucsc.edu	37	6	99790885	99790885	+	Silent	SNP	T	T	C			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr6:99790885T>C	ENST00000389677.5	-	2	573	c.291A>G	c.(289-291)aaA>aaG	p.K97K	FAXC_ENST00000538471.1_5'Flank	NM_032511.2	NP_115900.1	Q5TGI0	FAXC_HUMAN	failed axon connections homolog (Drosophila)	97						integral component of membrane (GO:0016021)											TAATAGCATCTTTAGAGTCAA	0.363																																					p.K97K		.											.	.	.	0			c.A291G						.						142.0	125.0	131.0					6																	99790885		2203	4300	6503	SO:0001819	synonymous_variant	84553	exon2			AGCATCTTTAGAG	BC011583	CCDS34500.1	6q16.3	2012-02-07	2012-02-07	2012-02-07	ENSG00000146267	ENSG00000146267			20742	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 168"""	C6orf168		12477932	Standard	NM_032511		Approved	MGC2817, dJ273F20	uc003ppj.4	Q5TGI0	OTTHUMG00000015261	ENST00000389677.5:c.291A>G	6.37:g.99790885T>C		94.0	2.0		134.0	18.0	NM_032511	B3KU39|Q96F61|Q96LU3|Q9BR58|Q9BSS2	Silent	SNP	ENST00000389677.5	37	CCDS34500.1																																																																																			.		0.363	FAXC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041589.4	NM_032511	
FBN1	2200	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	15	48719788	48719788	+	Nonsense_Mutation	SNP	G	G	A	rs397515848		TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr15:48719788G>A	ENST00000316623.5	-	58	7635	c.7180C>T	c.(7180-7182)Cga>Tga	p.R2394*		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2394					extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		ATGAATCCTCGGCCATGGGGA	0.463																																					p.R2394X		.											.	FBN1	92	0			c.C7180T	GRCh37	CM993162	FBN1	M		.						79.0	77.0	78.0					15																	48719788		2198	4296	6494	SO:0001587	stop_gained	2200	exon58			ATCCTCGGCCATG	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.7180C>T	15.37:g.48719788G>A	ENSP00000325527:p.Arg2394*	124.0	0.0		137.0	12.0	NM_000138	B2RUU0|D2JYH6|Q15972|Q75N87	Nonsense_Mutation	SNP	ENST00000316623.5	37	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	G	50	17.109795	0.99879	.	.	ENSG00000166147	ENST00000316623	.	.	.	5.44	4.51	0.55191	.	0.206926	0.42053	D	0.000769	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	13.249	0.60041	0.0:0.0:0.7113:0.2887	.	.	.	.	X	2394	.	ENSP00000325527:R2394X	R	-	1	2	FBN1	46507080	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.625000	0.67770	1.412000	0.46977	0.650000	0.86243	CGA	.		0.463	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1		
FBXW2	26190	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	123526906	123526906	+	Silent	SNP	C	C	T	rs377576429		TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr9:123526906C>T	ENST00000608872.1	-	8	1483	c.1296G>A	c.(1294-1296)acG>acA	p.T432T	FBXW2_ENST00000493559.1_Intron|FBXW2_ENST00000340778.5_Silent_p.T367T	NM_012164.3	NP_036296.2	Q9UKT8	FBXW2_HUMAN	F-box and WD repeat domain containing 2	432					cellular protein modification process (GO:0006464)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)	p.T432T(1)		ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	4						AGACCAAGCCCGTGTCATTGT	0.567																																					p.T432T		.											.	FBXW2	227	1	Substitution - coding silent(1)	lung(1)	c.G1296A						.	C		0,4338		0,0,2169	143.0	155.0	151.0		1296	-5.2	0.7	9		151	4,8512		0,4,4254	no	coding-synonymous	FBXW2	NM_012164.3		0,4,6423	TT,TC,CC		0.047,0.0,0.0311		432/455	123526906	4,12850	2169	4258	6427	SO:0001819	synonymous_variant	26190	exon8			CAAGCCCGTGTCA	AF129531	CCDS43872.1	9q34	2013-01-09	2007-02-08		ENSG00000119402	ENSG00000119402		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	13608	protein-coding gene	gene with protein product		609071	"""F-box and WD-40 domain protein 2"""			10531035, 10828603	Standard	NM_012164		Approved	FBW2, Md6, Fwd2	uc004bkm.1	Q9UKT8	OTTHUMG00000020576	ENST00000608872.1:c.1296G>A	9.37:g.123526906C>T		202.0	0.0		201.0	39.0	NM_012164	B3KRL8|Q4VXH2|Q7Z4V6|Q8WV51|Q9HA09|Q9UKA3	Silent	SNP	ENST00000608872.1	37	CCDS43872.1																																																																																			.		0.567	FBXW2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053834.2		
FCRL5	83416	broad.mit.edu;bcgsc.ca;mdanderson.org	37	1	157494214	157494214	+	Silent	SNP	G	G	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr1:157494214G>A	ENST00000361835.3	-	10	2251	c.2094C>T	c.(2092-2094)gtC>gtT	p.V698V	FCRL5_ENST00000368190.3_Silent_p.V698V|FCRL5_ENST00000461387.1_5'Flank|FCRL5_ENST00000368191.3_Silent_p.V613V|FCRL5_ENST00000356953.4_Silent_p.V698V	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	698	Ig-like C2-type 7.				negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				TACCCAGGGTGACATCTTCAT	0.567																																					p.V698V		.											.	FCRL5	156	0			c.C2094T						.						65.0	71.0	69.0					1																	157494214		2203	4300	6503	SO:0001819	synonymous_variant	83416	exon10			CAGGGTGACATCT	AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.2094C>T	1.37:g.157494214G>A		225.0	1.0		393.0	38.0	NM_031281	A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Silent	SNP	ENST00000361835.3	37	CCDS1165.1																																																																																			.		0.567	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281	
FEM1A	55527	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	4793795	4793795	+	Silent	SNP	G	G	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr19:4793795G>A	ENST00000269856.3	+	1	2068	c.1929G>A	c.(1927-1929)gcG>gcA	p.A643A	AC005523.2_ENST00000596170.1_RNA|AC005523.2_ENST00000601192.1_RNA|AC005523.3_ENST00000598782.1_lincRNA	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a (C. elegans)	643					negative regulation of inflammatory response (GO:0050728)|regulation of ubiquitin-protein transferase activity (GO:0051438)	cytoplasm (GO:0005737)	EP4 subtype prostaglandin E2 receptor binding (GO:0031867)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		AGTGCCTTGCGGCCCGGGCCC	0.592																																					p.A643A		.											.	FEM1A	90	0			c.G1929A						.						31.0	29.0	29.0					19																	4793795		2203	4300	6503	SO:0001819	synonymous_variant	55527	exon1			CCTTGCGGCCCGG	BC004988	CCDS12135.1	19p13.3	2013-01-10	2006-11-08		ENSG00000141965	ENSG00000141965		"""Ankyrin repeat domain containing"""	16934	protein-coding gene	gene with protein product		613538				11441184	Standard	NM_018708		Approved		uc002mbf.3	Q9BSK4		ENST00000269856.3:c.1929G>A	19.37:g.4793795G>A		42.0	0.0		67.0	11.0	NM_018708	B2RDI3|Q711P8|Q9NPN7|Q9NPW8	Silent	SNP	ENST00000269856.3	37	CCDS12135.1																																																																																			.		0.592	FEM1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459000.1		
FHAD1	114827	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	15684641	15684641	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr1:15684641A>T	ENST00000375998.4	+	19	2532	c.2532A>T	c.(2530-2532)ttA>ttT	p.L844F	FHAD1_ENST00000314740.8_Missense_Mutation_p.L97F|FHAD1_ENST00000417793.1_Missense_Mutation_p.L808F|FHAD1_ENST00000375999.3_Missense_Mutation_p.L844F|FHAD1_ENST00000471347.1_3'UTR|FHAD1_ENST00000358897.4_Missense_Mutation_p.L844F			B1AJZ9	FHAD1_HUMAN	forkhead-associated (FHA) phosphopeptide binding domain 1	844										skin(1)|stomach(1)	2						AGGACGTTTTAAATAATAAAT	0.358																																					p.L844F		.											.	FHAD1	69	0			c.A2532T						.						48.0	44.0	45.0					1																	15684641		692	1591	2283	SO:0001583	missense	114827	exon20			CGTTTTAAATAAT	AK093300		1p36.21	2012-04-19			ENSG00000142621	ENSG00000142621			29408	protein-coding gene	gene with protein product						11572484	Standard	NM_052929		Approved	KIAA1937	uc001awb.2	B1AJZ9	OTTHUMG00000002088	ENST00000375998.4:c.2532A>T	1.37:g.15684641A>T	ENSP00000365166:p.Leu844Phe	134.0	0.0		64.0	12.0	NM_052929	Q0P6F5|Q8N8D3|Q8N9T6|Q8NA05	Missense_Mutation	SNP	ENST00000375998.4	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.53|13.53	2.265329|2.265329	0.40095|0.40095	.|.	.|.	ENSG00000142621|ENSG00000142621	ENST00000358897;ENST00000417793;ENST00000375999;ENST00000375998;ENST00000529606;ENST00000314740;ENST00000314668|ENST00000444385	T;T;T;T;T;T;T|.	0.49139|.	0.79;0.79;0.79;0.79;0.79;0.79;0.79|.	5.14|5.14	4.01|4.01	0.46588|0.46588	.|.	.|.	.|.	.|.	.|.	T|.	0.53769|.	0.1817|.	M|M	0.72118|0.72118	2.19|2.19	0.28856|0.28856	N|N	0.89579|0.89579	D;D|.	0.89917|.	1.0;0.999|.	D;D|.	0.91635|.	0.999;0.997|.	T|.	0.51276|.	-0.8726|.	9|.	0.23302|.	T|.	0.38|.	.|.	7.9946|7.9946	0.30261|0.30261	0.9055:0.0:0.0945:0.0|0.9055:0.0:0.0945:0.0	.|.	97;844|.	B7WPP2;B1AJZ9|.	.;FHAD1_HUMAN|.	F|L	844;808;844;844;115;97;79|163	ENSP00000351770:L844F;ENSP00000407615:L808F;ENSP00000365167:L844F;ENSP00000365166:L844F;ENSP00000434909:L115F;ENSP00000322979:L97F;ENSP00000318812:L79F|.	ENSP00000318812:L79F|.	L|X	+|+	3|2	2|2	FHAD1|FHAD1	15557228|15557228	0.994000|0.994000	0.37717|0.37717	0.921000|0.921000	0.36526|0.36526	0.047000|0.047000	0.14425|0.14425	1.269000|1.269000	0.33074|0.33074	0.905000|0.905000	0.36596|0.36596	0.482000|0.482000	0.46254|0.46254	TTA|TAA	.		0.358	FHAD1-026	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000393400.2	NM_052929	
FLG	2312	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	152286777	152286777	+	Silent	SNP	G	G	A	rs375267392		TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr1:152286777G>A	ENST00000368799.1	-	3	620	c.585C>T	c.(583-585)gaC>gaT	p.D195D	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	195					establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTTCCTATTGTCTCCTAATC	0.318									Ichthyosis																												p.D195D		.											.	FLG	106	0			c.C585T						.						87.0	94.0	91.0					1																	152286777		2203	4298	6501	SO:0001819	synonymous_variant	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	CCTATTGTCTCCT	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.585C>T	1.37:g.152286777G>A		143.0	0.0		282.0	31.0	NM_002016	Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	CCDS30860.1																																																																																			.		0.318	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016	
FLG2	388698	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	1	152327323	152327323	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr1:152327323C>G	ENST00000388718.5	-	3	3011	c.2939G>C	c.(2938-2940)gGc>gCc	p.G980A	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	980	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTTTCCTGAGCCTGACTCATG	0.498																																					p.G980A		.											.	FLG2	151	0			c.G2939C						.						258.0	260.0	259.0					1																	152327323		2203	4300	6503	SO:0001583	missense	388698	exon3			CCTGAGCCTGACT	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.2939G>C	1.37:g.152327323C>G	ENSP00000373370:p.Gly980Ala	300.0	0.0		520.0	40.0	NM_001014342	Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	C	8.274	0.813954	0.16537	.	.	ENSG00000143520	ENST00000388718	T	0.39787	1.06	3.96	2.02	0.26589	.	.	.	.	.	T	0.12603	0.0306	M	0.65498	2.005	0.09310	N	1	P	0.34977	0.478	B	0.30105	0.111	T	0.33085	-0.9882	9	0.05833	T	0.94	1.3468	6.3918	0.21591	0.0:0.7628:0.0:0.2372	.	980	Q5D862	FILA2_HUMAN	A	980	ENSP00000373370:G980A	ENSP00000373370:G980A	G	-	2	0	FLG2	150593947	0.000000	0.05858	0.006000	0.13384	0.006000	0.05464	0.317000	0.19487	0.878000	0.35920	0.561000	0.74099	GGC	.		0.498	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342	
FLNA	2316	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	153580981	153580981	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chrX:153580981G>T	ENST00000369850.3	-	40	6678	c.6442C>A	c.(6442-6444)Cgt>Agt	p.R2148S	FLNA_ENST00000344736.4_Missense_Mutation_p.R2108S|FLNA_ENST00000360319.4_Missense_Mutation_p.R2140S|FLNA_ENST00000498491.1_5'Flank|FLNA_ENST00000422373.1_Missense_Mutation_p.R2140S|FLNA_ENST00000369856.3_Missense_Mutation_p.R281S	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	2148					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGAGCCCGACGCCTGCGGGTG	0.637																																					p.R2148S		.											.	FLNA	599	0			c.C6442A						.						37.0	38.0	38.0					X																	153580981		1951	4131	6082	SO:0001583	missense	2316	exon40			CCCGACGCCTGCG	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.6442C>A	X.37:g.153580981G>T	ENSP00000358866:p.Arg2148Ser	228.0	0.0		162.0	28.0	NM_001110556	E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	G	10.39	1.338146	0.24253	.	.	ENSG00000196924	ENST00000360319;ENST00000422373;ENST00000369850;ENST00000369856;ENST00000344736	D;D;D;T;D	0.86366	-2.1;-2.1;-2.11;-0.81;-2.1	5.64	3.89	0.44902	.	0.075157	0.50627	D	0.000117	D	0.83142	0.5190	M	0.64997	1.995	0.45390	D	0.998375	B;B;B;B	0.26975	0.006;0.01;0.165;0.165	B;B;B;B	0.29716	0.012;0.018;0.106;0.106	T	0.75419	-0.3324	10	0.33940	T	0.23	.	6.6402	0.22904	0.1591:0.0:0.6565:0.1844	.	281;2140;2148;2148	E9PHF0;P21333-2;P21333;E9KL45	.;.;FLNA_HUMAN;.	S	2140;2140;2148;281;2108	ENSP00000353467:R2140S;ENSP00000416926:R2140S;ENSP00000358866:R2148S;ENSP00000358872:R281S;ENSP00000358863:R2108S	ENSP00000358863:R2108S	R	-	1	0	FLNA	153234175	0.008000	0.16893	1.000000	0.80357	0.785000	0.44390	0.602000	0.24134	0.564000	0.29238	-0.305000	0.09177	CGT	.		0.637	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3		
FNDC3B	64778	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	172048416	172048416	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr3:172048416A>T	ENST00000336824.4	+	13	1564	c.1465A>T	c.(1465-1467)Aca>Tca	p.T489S	FNDC3B_ENST00000415807.2_Missense_Mutation_p.T489S|FNDC3B_ENST00000416957.1_Missense_Mutation_p.T489S	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	489	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		AGCTGGCATCACATGGGTCAC	0.478																																					p.T489S		.											.	FNDC3B	155	0			c.A1465T						.						133.0	110.0	118.0					3																	172048416		2203	4300	6503	SO:0001583	missense	64778	exon13			GGCATCACATGGG	AF543840	CCDS3217.1	3q26.31	2013-11-06			ENSG00000075420	ENSG00000075420		"""Fibronectin type III domain containing"""	24670	protein-coding gene	gene with protein product		611909				15527760	Standard	NM_022763		Approved	FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421	uc003fhy.3	Q53EP0	OTTHUMG00000156761	ENST00000336824.4:c.1465A>T	3.37:g.172048416A>T	ENSP00000338523:p.Thr489Ser	197.0	0.0		218.0	38.0	NM_001135095	B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Missense_Mutation	SNP	ENST00000336824.4	37	CCDS3217.1	.	.	.	.	.	.	.	.	.	.	A	14.16	2.453217	0.43531	.	.	ENSG00000075420	ENST00000415807;ENST00000336824;ENST00000416957	T;T;T	0.59502	0.26;0.26;0.26	5.12	5.12	0.69794	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.048827	0.85682	D	0.000000	T	0.45013	0.1321	N	0.17082	0.46	0.80722	D	1	B;B	0.16396	0.008;0.017	B;B	0.28305	0.005;0.088	T	0.34527	-0.9825	10	0.32370	T	0.25	-15.0524	15.2444	0.73497	1.0:0.0:0.0:0.0	.	489;489	Q53EP0-2;Q53EP0	.;FND3B_HUMAN	S	489	ENSP00000411242:T489S;ENSP00000338523:T489S;ENSP00000389094:T489S	ENSP00000338523:T489S	T	+	1	0	FNDC3B	173531110	1.000000	0.71417	0.999000	0.59377	0.697000	0.40408	6.621000	0.74228	2.078000	0.62432	0.533000	0.62120	ACA	.		0.478	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345618.2	NM_022763	
FOLR1	2348	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	71903312	71903312	+	Missense_Mutation	SNP	A	A	C			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	A	A	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr11:71903312A>C	ENST00000393679.1	+	2	531	c.95A>C	c.(94-96)gAg>gCg	p.E32A	FOLR1_ENST00000393676.3_Missense_Mutation_p.E32A|RP11-807H22.7_ENST00000378140.3_RNA|FOLR1_ENST00000393681.2_Missense_Mutation_p.E32A|FOLR1_ENST00000312293.4_Missense_Mutation_p.E32A			P15328	FOLR1_HUMAN	folate receptor 1 (adult)	32					cell death (GO:0008219)|folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|receptor-mediated endocytosis (GO:0006898)	anchored component of external side of plasma membrane (GO:0031362)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|receptor activity (GO:0004872)			cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	14					Methotrexate(DB00563)	GCCAGGACTGAGCTTCTCAAT	0.577																																					p.E32A		.											.	FOLR1	91	0			c.A95C						.						131.0	115.0	121.0					11																	71903312		2200	4293	6493	SO:0001583	missense	2348	exon1			GGACTGAGCTTCT	J05013	CCDS8211.1	11q13.3-q14.1	2010-04-09			ENSG00000110195	ENSG00000110195			3791	protein-coding gene	gene with protein product		136430		FOLR		1717147	Standard	NM_000802		Approved		uc001osa.2	P15328		ENST00000393679.1:c.95A>C	11.37:g.71903312A>C	ENSP00000377284:p.Glu32Ala	217.0	1.0		224.0	29.0	NM_016729	Q53EW2|Q6FGT8|Q6LC90|Q9UCT2	Missense_Mutation	SNP	ENST00000393679.1	37	CCDS8211.1	.	.	.	.	.	.	.	.	.	.	a	12.85	2.061327	0.36373	.	.	ENSG00000110195	ENST00000312293;ENST00000393681;ENST00000393679;ENST00000393676	T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88	4.9	3.77	0.43336	.	0.518997	0.20278	N	0.095513	T	0.53318	0.1789	N	0.08118	0	0.09310	N	1	B	0.28552	0.215	B	0.32465	0.146	T	0.45056	-0.9287	10	0.34782	T	0.22	-1.5593	7.4912	0.27462	0.9035:0.0:0.0965:0.0	.	32	P15328	FOLR1_HUMAN	A	32	ENSP00000308137:E32A;ENSP00000377286:E32A;ENSP00000377284:E32A;ENSP00000377281:E32A	ENSP00000308137:E32A	E	+	2	0	FOLR1	71580960	0.242000	0.23868	0.002000	0.10522	0.032000	0.12392	1.804000	0.38873	1.001000	0.39076	0.528000	0.53228	GAG	.		0.577	FOLR1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396773.1	NM_016725	
FOXC1	2296	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	6	1612242	1612242	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr6:1612242C>T	ENST00000380874.2	+	1	1562	c.1562C>T	c.(1561-1563)tCt>tTt	p.S521F		NM_001453.2	NP_001444.2	Q12948	FOXC1_HUMAN	forkhead box C1	521					artery morphogenesis (GO:0048844)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|collagen fibril organization (GO:0030199)|embryonic heart tube development (GO:0035050)|eye development (GO:0001654)|germ cell migration (GO:0008354)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lacrimal gland development (GO:0032808)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process involved in outflow tract morphogenesis (GO:1902257)|negative regulation of mitotic cell cycle (GO:0045930)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|ovarian follicle development (GO:0001541)|paraxial mesoderm formation (GO:0048341)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood vessel size (GO:0050880)|regulation of organ growth (GO:0046620)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|ureteric bud development (GO:0001657)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168)		TTGAACAACTCTCCAGTGAAC	0.602																																					p.S521F	Pancreas(133;719 1821 3197 26645 35015)	.											.	FOXC1	227	0			c.C1562T						.						63.0	46.0	52.0					6																	1612242		2201	4299	6500	SO:0001583	missense	2296	exon1			ACAACTCTCCAGT	AF048693	CCDS4473.1	6p25	2008-04-10			ENSG00000054598	ENSG00000054598		"""Forkhead boxes"""	3800	protein-coding gene	gene with protein product		601090		FKHL7, IRID1		7957066, 9620769	Standard	NM_001453		Approved	FREAC3, ARA, IGDA, IHG1	uc003mtp.3	Q12948	OTTHUMG00000016182	ENST00000380874.2:c.1562C>T	6.37:g.1612242C>T	ENSP00000370256:p.Ser521Phe	137.0	0.0		238.0	21.0	NM_001453	Q86UP7|Q9BYM1|Q9NUE5|Q9UDD0|Q9UP06	Missense_Mutation	SNP	ENST00000380874.2	37	CCDS4473.1	.	.	.	.	.	.	.	.	.	.	C	18.66	3.672562	0.67928	.	.	ENSG00000054598	ENST00000380874	D	0.82433	-1.61	3.52	3.52	0.40303	.	0.000000	0.64402	U	0.000004	D	0.83635	0.5297	L	0.39245	1.2	0.58432	D	0.999995	D	0.65815	0.995	D	0.75484	0.986	D	0.86117	0.1566	10	0.72032	D	0.01	.	14.0047	0.64456	0.0:1.0:0.0:0.0	.	521	Q12948	FOXC1_HUMAN	F	521	ENSP00000370256:S521F	ENSP00000370256:S521F	S	+	2	0	FOXC1	1557241	1.000000	0.71417	0.994000	0.49952	0.989000	0.77384	6.548000	0.73896	1.828000	0.53243	0.448000	0.29417	TCT	.		0.602	FOXC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043450.1		
FOXO4	4303	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	70320820	70320820	+	Missense_Mutation	SNP	G	G	A	rs367715683		TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chrX:70320820G>A	ENST00000374259.3	+	2	1072	c.740G>A	c.(739-741)cGt>cAt	p.R247H	FOXO4_ENST00000341558.3_Missense_Mutation_p.R192H	NM_001170931.1|NM_005938.3	NP_001164402.1|NP_005929.2	P98177	FOXO4_HUMAN	forkhead box O4	247					cell cycle arrest (GO:0007050)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|mitotic G2 DNA damage checkpoint (GO:0007095)|muscle organ development (GO:0007517)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of smooth muscle cell differentiation (GO:0051151)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)	18	Renal(35;0.156)					TCTCGAAACCGTGAAGAAGCC	0.592											OREG0019856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1	0.000264901	0.0	0.0	3775	,	,		12575	0.0		0.0	False		,,,				2504	0.001				p.R247H		.											.	FOXO4	986	0			c.G740A						.	G	HIS/ARG,HIS/ARG	0,3458		0,0,1444,570	33.0	33.0	33.0		575,740	1.1	0.0	X		33	1,6538		0,1,2363,1811	no	missense,missense	FOXO4	NM_001170931.1,NM_005938.3	29,29	0,1,3807,2381	AA,AG,GG,G		0.0153,0.0,0.01	probably-damaging,probably-damaging	192/451,247/506	70320820	1,9996	2014	4175	6189	SO:0001583	missense	4303	exon2			GAAACCGTGAAGA		CCDS43969.1, CCDS55440.1	Xq13.1	2008-02-05	2007-05-02	2007-05-02	ENSG00000184481	ENSG00000184481		"""Forkhead boxes"""	7139	protein-coding gene	gene with protein product		300033	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 7"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 7"""	MLLT7		7529552	Standard	NM_005938		Approved	AFX1	uc004dys.2	P98177	OTTHUMG00000021789	ENST00000374259.3:c.740G>A	X.37:g.70320820G>A	ENSP00000363377:p.Arg247His	140.0	0.0	1121	116.0	30.0	NM_005938	B7WPJ7|O43821|Q13720|Q3KPF1|Q8TDK9	Missense_Mutation	SNP	ENST00000374259.3	37	CCDS43969.1	.	.	.	.	.	.	.	.	.	.	G	5.289	0.238767	0.10023	0.0	1.53E-4	ENSG00000184481	ENST00000374259;ENST00000341558	D;D	0.95554	-3.52;-3.74	5.11	1.14	0.20703	.	0.942857	0.08838	N	0.886220	D	0.89687	0.6787	N	0.22421	0.69	0.09310	N	1	B;B;B	0.10296	0.0;0.003;0.0	B;B;B	0.06405	0.0;0.002;0.001	T	0.80044	-0.1547	10	0.52906	T	0.07	-14.3609	5.4224	0.16407	0.2997:0.4218:0.2784:0.0	.	247;192;247	B4DTB6;P98177-2;P98177	.;.;FOXO4_HUMAN	H	247;192	ENSP00000363377:R247H;ENSP00000342209:R192H	ENSP00000342209:R192H	R	+	2	0	FOXO4	70237545	0.002000	0.14202	0.009000	0.14445	0.731000	0.41821	0.603000	0.24149	0.191000	0.20236	0.519000	0.50382	CGT	.		0.592	FOXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057115.1	NM_005938	
FREM1	158326	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	14824891	14824891	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr9:14824891T>A	ENST00000380880.3	-	11	2764	c.1981A>T	c.(1981-1983)Ata>Tta	p.I661L	FREM1_ENST00000422223.2_Missense_Mutation_p.I661L|FREM1_ENST00000380881.4_Missense_Mutation_p.I662L			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	661					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TTCTTAGTTATATAGGCCACC	0.433																																					p.I661L		.											.	FREM1	138	0			c.A1981T						.						84.0	79.0	81.0					9																	14824891		1834	4082	5916	SO:0001583	missense	158326	exon12			TAGTTATATAGGC	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.1981A>T	9.37:g.14824891T>A	ENSP00000370262:p.Ile661Leu	111.0	0.0		81.0	21.0	NM_144966	B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	T	8.773	0.926378	0.18056	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.52983	0.64;0.64;0.64	5.92	2.25	0.28309	.	0.214563	0.49305	D	0.000158	T	0.24470	0.0593	N	0.17082	0.46	0.37515	D	0.917298	B	0.11235	0.004	B	0.17979	0.02	T	0.22277	-1.0221	10	0.02654	T	1	-13.0527	8.8665	0.35289	0.0:0.0781:0.3598:0.5621	.	661	Q5H8C1	FREM1_HUMAN	L	662;661;661	ENSP00000370263:I662L;ENSP00000412940:I661L;ENSP00000370262:I661L	ENSP00000370257:I664L	I	-	1	0	FREM1	14814891	1.000000	0.71417	0.995000	0.50966	0.964000	0.63967	1.878000	0.39608	0.448000	0.26722	0.533000	0.62120	ATA	.		0.433	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966	
FRMD7	90167	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	131212020	131212020	+	Silent	SNP	G	G	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chrX:131212020G>A	ENST00000298542.4	-	12	2200	c.2025C>T	c.(2023-2025)gcC>gcT	p.A675A	FRMD7_ENST00000464296.1_Silent_p.A660A|FRMD7_ENST00000370879.1_Silent_p.A555A	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	675					regulation of neuron projection development (GO:0010975)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					GGCGGATTCTGGCCATGGGTG	0.408																																					p.A675A		.											.	FRMD7	228	0			c.C2025T						.						128.0	117.0	120.0					X																	131212020		2203	4300	6503	SO:0001819	synonymous_variant	90167	exon12			GATTCTGGCCATG	AL161984	CCDS35397.1	Xq26.2	2014-09-17	2006-09-01	2006-09-01	ENSG00000165694	ENSG00000165694			8079	protein-coding gene	gene with protein product		300628	"""nystagmus 1, congenital"""	NYS, NYS1		2063919, 17013395	Standard	NM_194277		Approved	FLJ43346	uc004ewn.3	Q6ZUT3	OTTHUMG00000022421	ENST00000298542.4:c.2025C>T	X.37:g.131212020G>A		433.0	0.0		346.0	49.0	NM_194277	C0LLJ3|Q5JX99	Silent	SNP	ENST00000298542.4	37	CCDS35397.1																																																																																			.		0.408	FRMD7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355031.1	NM_194277	
FRYL	285527	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	48607809	48607809	+	Silent	SNP	T	T	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr4:48607809T>A	ENST00000503238.1	-	8	782	c.783A>T	c.(781-783)atA>atT	p.I261I	FRYL_ENST00000507711.1_Silent_p.I261I|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000506685.1_5'UTR|FRYL_ENST00000537810.1_Silent_p.I261I|FRYL_ENST00000358350.4_Silent_p.I261I			O94915	FRYL_HUMAN	FRY-like	261					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						GTGCATGTTTTATATCTTTAT	0.313																																					p.I261I		.											.	FRYL	69	0			c.A783T						.						110.0	113.0	112.0					4																	48607809		1824	4090	5914	SO:0001819	synonymous_variant	285527	exon11			ATGTTTTATATCT	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.783A>T	4.37:g.48607809T>A		149.0	0.0		142.0	32.0	NM_015030	O95640|Q8WTZ5|Q9NT40	Silent	SNP	ENST00000503238.1	37	CCDS43227.1																																																																																			.		0.313	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2		
FXN	2395	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	71668103	71668103	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	A	A	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr9:71668103A>G	ENST00000377270.3	+	3	835	c.311A>G	c.(310-312)gAc>gGc	p.D104G	FXN_ENST00000396366.2_Missense_Mutation_p.D104G|FXN_ENST00000498653.1_Missense_Mutation_p.D29G|FXN_ENST00000396364.3_Missense_Mutation_p.D104G	NM_000144.4	NP_000135.2	Q16595	FRDA_HUMAN	frataxin	104					adult walking behavior (GO:0007628)|aerobic respiration (GO:0009060)|cellular iron ion homeostasis (GO:0006879)|cellular response to hydrogen peroxide (GO:0070301)|embryo development ending in birth or egg hatching (GO:0009792)|heme biosynthetic process (GO:0006783)|ion transport (GO:0006811)|iron incorporation into metallo-sulfur cluster (GO:0018283)|mitochondrion organization (GO:0007005)|negative regulation of apoptotic process (GO:0043066)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|oxidative phosphorylation (GO:0006119)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lyase activity (GO:0051349)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of transferase activity (GO:0051347)|proprioception (GO:0019230)|protein autoprocessing (GO:0016540)|regulation of ferrochelatase activity (GO:0010722)|response to iron ion (GO:0010039)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|ferric iron binding (GO:0008199)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)|iron chaperone activity (GO:0034986)|iron-sulfur cluster binding (GO:0051536)			large_intestine(1)|lung(1)	2						GAAACGCTGGACTCTTTAGCA	0.413																																					p.D104G		.											.	FXN	251	0			c.A311G						.						127.0	132.0	130.0					9																	71668103		2203	4300	6503	SO:0001583	missense	2395	exon3			CGCTGGACTCTTT	U43752	CCDS6626.1, CCDS43834.1, CCDS55313.1	9q21.11	2014-09-17	2004-08-16	2004-08-19	ENSG00000165060	ENSG00000165060			3951	protein-coding gene	gene with protein product		606829	"""Friedreich ataxia"""	FRDA		8596916, 8841185	Standard	NM_000144		Approved	FA, FARR, X25, CyaY	uc004aha.2	Q16595	OTTHUMG00000019977	ENST00000377270.3:c.311A>G	9.37:g.71668103A>G	ENSP00000366482:p.Asp104Gly	87.0	1.0		69.0	11.0	NM_000144	A8MXJ6|C9JJ89|O15545|O95656|Q15294|Q5VZ01	Missense_Mutation	SNP	ENST00000377270.3	37	CCDS6626.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.205185	0.79127	.	.	ENSG00000165060	ENST00000377270;ENST00000396364;ENST00000396366;ENST00000498653	D;D;D;D	0.84873	-1.91;-1.91;-1.91;-1.91	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.90686	0.7078	M	0.84156	2.68	0.58432	D	0.999997	P;P;P	0.51449	0.944;0.945;0.587	P;P;B	0.55161	0.69;0.77;0.268	D	0.91433	0.5167	10	0.52906	T	0.07	-25.5838	14.5414	0.67997	1.0:0.0:0.0:0.0	.	104;104;104	Q16595-2;Q16595;A8MXJ6	.;FRDA_HUMAN;.	G	104;104;104;29	ENSP00000366482:D104G;ENSP00000379650:D104G;ENSP00000379652:D104G;ENSP00000418015:D29G	ENSP00000366482:D104G	D	+	2	0	FXN	70857923	1.000000	0.71417	0.987000	0.45799	0.886000	0.51366	6.595000	0.74109	2.076000	0.62316	0.523000	0.50628	GAC	.		0.413	FXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052568.2	NM_000144	
GABRA4	2557	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	46967002	46967002	+	Silent	SNP	A	A	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr4:46967002A>T	ENST00000264318.3	-	8	2101	c.1119T>A	c.(1117-1119)ccT>ccA	p.P373P		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	373					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	GAGGGGCTTCAGGATGCTTCT	0.408																																					p.P373P	Ovarian(6;283 369 8234 12290 33402)	.											.	GABRA4	156	0			c.T1119A						.						80.0	86.0	84.0					4																	46967002		2202	4299	6501	SO:0001819	synonymous_variant	2557	exon8			GGCTTCAGGATGC		CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4078	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 4"""	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.1119T>A	4.37:g.46967002A>T		128.0	0.0		115.0	12.0	NM_000809	Q8IYR7	Silent	SNP	ENST00000264318.3	37	CCDS3473.1																																																																																			.		0.408	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1		
GABRA6	2559	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	161116665	161116665	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr5:161116665A>G	ENST00000274545.5	+	6	986	c.553A>G	c.(553-555)Ata>Gta	p.I185V	GABRA6_ENST00000523217.1_Missense_Mutation_p.I175V|RP11-348M17.2_ENST00000521984.1_RNA			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	185					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	AAGTGAAATCATATATACGTG	0.343										TCGA Ovarian(5;0.080)																											p.I185V		.											.	GABRA6	163	0			c.A553G						.						45.0	48.0	47.0					5																	161116665		2200	4298	6498	SO:0001583	missense	2559	exon6			GAAATCATATATA		CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4080	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 6"""	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.553A>G	5.37:g.161116665A>G	ENSP00000274545:p.Ile185Val	72.0	0.0		78.0	12.0	NM_000811	A8K096|Q4VAV2	Missense_Mutation	SNP	ENST00000274545.5	37	CCDS4356.1	.	.	.	.	.	.	.	.	.	.	A	3.400	-0.122553	0.06795	.	.	ENSG00000145863	ENST00000274545;ENST00000523217;ENST00000517823;ENST00000523691	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.4	5.4	0.78164	Neurotransmitter-gated ion-channel ligand-binding (3);	0.049657	0.85682	D	0.000000	T	0.56934	0.2019	N	0.04686	-0.185	0.43010	D	0.994543	B	0.16603	0.018	B	0.30943	0.122	T	0.53563	-0.8421	10	0.08599	T	0.76	.	9.8755	0.41200	0.9235:0.0:0.0765:0.0	.	185	Q16445	GBRA6_HUMAN	V	185;175;132;105	ENSP00000274545:I185V;ENSP00000430527:I175V;ENSP00000430212:I132V;ENSP00000427989:I105V	ENSP00000274545:I185V	I	+	1	0	GABRA6	161049243	0.998000	0.40836	1.000000	0.80357	0.988000	0.76386	3.568000	0.53820	2.040000	0.60383	0.528000	0.53228	ATA	.		0.343	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2		
GABRB3	2562	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	26793135	26793135	+	Silent	SNP	T	T	C			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr15:26793135T>C	ENST00000311550.5	-	9	1338	c.1227A>G	c.(1225-1227)cgA>cgG	p.R409R	GABRB3_ENST00000545868.1_Silent_p.R324R|GABRB3_ENST00000400188.3_Silent_p.R338R|GABRB3_ENST00000541819.2_Silent_p.R465R|GABRB3_ENST00000299267.4_Silent_p.R409R	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	409					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CATGCCCTTCTCGAGGCATGC	0.488																																					p.R409R		.											.	GABRB3	518	0			c.A1227G						.						84.0	75.0	78.0					15																	26793135		2203	4300	6503	SO:0001819	synonymous_variant	2562	exon9			CCCTTCTCGAGGC		CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4083	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 3"""	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.1227A>G	15.37:g.26793135T>C		167.0	0.0		174.0	37.0	NM_021912	B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Silent	SNP	ENST00000311550.5	37	CCDS10019.1																																																																																			.		0.488	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2		
GABRR3	200959	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	97753825	97753825	+	RNA	SNP	G	G	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr3:97753825G>A	ENST00000472788.1	-	0	8					NM_001105580.2	NP_001099050.1	A8MPY1	GBRR3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 3 (gene/pseudogene)						gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			large_intestine(2)|lung(1)	3					Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	TGGAAAGCCAGGACCATCTCT	0.408																																					.		.											.	GABRR3	68	0			.						.						92.0	86.0	88.0					3																	97753825		1922	4121	6043			200959	.			AAGCCAGGACCAT	Y18994	CCDS54617.1	3q11.2	2014-03-25	2014-03-25		ENSG00000183185	ENSG00000183185		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	17969	protein-coding gene	gene with protein product	"""GABA(A) receptor, rho 3"""		"""gamma-aminobutyric acid (GABA) receptor, rho 3"", ""gamma-aminobutyric acid (GABA) A receptor, rho 3"""			10542332	Standard	NM_001105580		Approved		uc021xbp.1	A8MPY1	OTTHUMG00000159135		3.37:g.97753825G>A		81.0	0.0		98.0	15.0	.	Q9UIV9	RNA	SNP	ENST00000472788.1	37																																																																																				.		0.408	GABRR3-002	KNOWN	not_organism_supported|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000353445.2		
GALNT14	79623	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	31178813	31178813	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr2:31178813G>A	ENST00000349752.5	-	5	1136	c.497C>T	c.(496-498)cCc>cTc	p.P166L	GALNT14_ENST00000324589.5_Missense_Mutation_p.P171L|GALNT14_ENST00000420311.2_Missense_Mutation_p.P131L|GALNT14_ENST00000356174.3_Missense_Mutation_p.P133L|GALNT14_ENST00000406653.1_Missense_Mutation_p.P146L|GALNT14_ENST00000486564.1_5'Flank	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	polypeptide N-acetylgalactosaminyltransferase 14	166	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					TTTCACCTTGGGCAACTTGAT	0.517																																					p.P171L		.											.	GALNT14	93	0			c.C512T						.						215.0	200.0	205.0					2																	31178813		2203	4300	6503	SO:0001583	missense	79623	exon6			ACCTTGGGCAACT	AB078144	CCDS1773.2, CCDS58705.1, CCDS58706.1	2p23.2	2014-03-13	2014-03-13		ENSG00000158089	ENSG00000158089	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	22946	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 14"""	608225	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)"""			12507512	Standard	NM_024572		Approved	GalNac-T10, FLJ12691, GalNac-T14	uc002rns.3	Q96FL9	OTTHUMG00000074077	ENST00000349752.5:c.497C>T	2.37:g.31178813G>A	ENSP00000288988:p.Pro166Leu	160.0	0.0		215.0	59.0	NM_001253826	B3KV89|Q4ZG75|Q53SU1|Q53TJ0|Q8IVI4|Q9BRH1|Q9H827|Q9H9J8	Missense_Mutation	SNP	ENST00000349752.5	37	CCDS1773.2	.	.	.	.	.	.	.	.	.	.	G	32	5.190093	0.94923	.	.	ENSG00000158089	ENST00000349752;ENST00000324589;ENST00000406653;ENST00000356174;ENST00000420311;ENST00000430167	T;T;T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14;-0.14;-0.14	5.28	5.28	0.74379	Glycosyl transferase, family 2 (1);	0.788526	0.11995	N	0.509410	D	0.82765	0.5108	M	0.85462	2.755	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.994;0.995;0.999;0.999;0.998;0.999	T	0.81178	-0.1051	10	0.44086	T	0.13	.	18.9153	0.92503	0.0:0.0:1.0:0.0	.	131;131;133;171;166;146	F5H263;B7Z5C5;Q96FL9-2;Q96FL9-3;Q96FL9;B3KV89	.;.;.;.;GLT14_HUMAN;.	L	166;171;146;133;131;133	ENSP00000288988:P166L;ENSP00000314500:P171L;ENSP00000385435:P146L;ENSP00000348497:P133L;ENSP00000415514:P131L;ENSP00000406399:P133L	ENSP00000314500:P171L	P	-	2	0	GALNT14	31032317	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.739000	0.91574	2.484000	0.83849	0.561000	0.74099	CCC	.		0.517	GALNT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157264.1	NM_024572	
GATAD2B	57459	broad.mit.edu;bcgsc.ca;mdanderson.org	37	1	153785891	153785891	+	Silent	SNP	A	A	G			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	A	A	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr1:153785891A>G	ENST00000368655.4	-	8	1497	c.1254T>C	c.(1252-1254)ttT>ttC	p.F418F		NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	418	CR2; histone tail-binding.				ATP-dependent chromatin remodeling (GO:0043044)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGGCACATACAAAGGGTTCAA	0.443																																					p.F418F		.											.	GATAD2B	90	0			c.T1254C						.						94.0	84.0	87.0					1																	153785891		2203	4300	6503	SO:0001819	synonymous_variant	57459	exon8			ACATACAAAGGGT	AF411836	CCDS1054.1	1q21.3	2013-01-25			ENSG00000143614	ENSG00000143614		"""GATA zinc finger domain containing"""	30778	protein-coding gene	gene with protein product	"""transcription repressor p66 beta component of the MeCP1 complex"""	614998				10574461, 11756549	Standard	NM_020699		Approved	P66beta	uc001fdb.4	Q8WXI9	OTTHUMG00000037162	ENST00000368655.4:c.1254T>C	1.37:g.153785891A>G		181.0	1.0		284.0	19.0	NM_020699	D3DUZ2|Q5VUR2|Q7LG68|Q9ULS0	Silent	SNP	ENST00000368655.4	37	CCDS1054.1																																																																																			.		0.443	GATAD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090305.1	NM_020699	
GIGYF2	26058	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	233710580	233710580	+	Silent	SNP	G	G	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr2:233710580G>A	ENST00000409547.1	+	28	3755	c.3444G>A	c.(3442-3444)acG>acA	p.T1148T	GIGYF2_ENST00000409196.3_Silent_p.T1142T|GIGYF2_ENST00000409451.3_Silent_p.T1169T|GIGYF2_ENST00000409480.1_Silent_p.T1170T|GIGYF2_ENST00000373563.4_Silent_p.T1148T|GIGYF2_ENST00000373566.3_Silent_p.T1170T	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	1148					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		CCCTTAATACGGCAAATaact	0.463																																					p.T1169T		.											.	GIGYF2	28	0			c.G3507A						.						83.0	79.0	80.0					2																	233710580		2203	4300	6503	SO:0001819	synonymous_variant	26058	exon28			TAATACGGCAAAT	U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"""Trinucleotide (CAG) repeat containing"""	11960	protein-coding gene	gene with protein product	"""GYF domain containing 2"""	612003	"""PERQ amino acid rich, with GYF domain 2"", ""PERQ amino acid rich, with GYF domain 3"", ""trinucleotide repeat containing 15"", ""Parkinson disease (autosomal recessive, early onset) 11"""	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.3444G>A	2.37:g.233710580G>A		94.0	0.0		171.0	26.0	NM_001103147	A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Silent	SNP	ENST00000409547.1	37	CCDS33401.1																																																																																			.		0.463	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146	
GLP2R	9340	broad.mit.edu;mdanderson.org	37	17	9729529	9729529	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr17:9729529G>A	ENST00000262441.5	+	1	662	c.149G>A	c.(148-150)aGg>aAg	p.R50K	GLP2R_ENST00000574745.1_Intron	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	50					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|positive regulation of cell proliferation (GO:0008284)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|glucagon receptor activity (GO:0004967)			endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)|Teduglutide(DB08900)	GCCCCTGGGAGGCCCTTCCTC	0.517																																					p.R50K		.											.	GLP2R	524	0			c.G149A						.						39.0	40.0	40.0					17																	9729529		2203	4300	6503	SO:0001583	missense	9340	exon1			CTGGGAGGCCCTT	AF105367	CCDS11150.1	17p13.3	2012-08-10			ENSG00000065325	ENSG00000065325		"""GPCR / Class B : Glucagon receptors"""	4325	protein-coding gene	gene with protein product		603659				9990065	Standard	NM_004246		Approved		uc002gmd.1	O95838	OTTHUMG00000130269	ENST00000262441.5:c.149G>A	17.37:g.9729529G>A	ENSP00000262441:p.Arg50Lys	18.0	0.0		10.0	3.0	NM_004246	Q4VAT3	Missense_Mutation	SNP	ENST00000262441.5	37	CCDS11150.1	.	.	.	.	.	.	.	.	.	.	G	14.26	2.483551	0.44147	.	.	ENSG00000065325	ENST00000396206;ENST00000304773;ENST00000262441	T	0.55760	0.5	4.38	3.39	0.38822	.	0.348665	0.21006	N	0.081767	T	0.33789	0.0875	L	0.29908	0.895	0.19775	N	0.999954	B	0.32918	0.39	B	0.24541	0.054	T	0.10941	-1.0608	10	0.15952	T	0.53	.	11.1143	0.48252	0.0:0.1871:0.8129:0.0	.	50	O95838	GLP2R_HUMAN	K	50;25;50	ENSP00000262441:R50K	ENSP00000262441:R50K	R	+	2	0	GLP2R	9670254	0.962000	0.33011	0.272000	0.24630	0.326000	0.28443	1.760000	0.38430	1.116000	0.41820	0.655000	0.94253	AGG	.		0.517	GLP2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252601.4		
GNB4	59345	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	179119095	179119095	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr3:179119095C>G	ENST00000232564.3	-	10	1215	c.929G>C	c.(928-930)gGt>gCt	p.G310A	GNB4_ENST00000468623.1_Missense_Mutation_p.G310A|AC007620.3_ENST00000598857.1_RNA|AC007620.3_ENST00000600539.1_RNA|AC007620.3_ENST00000495081.2_RNA	NM_021629.3	NP_067642.1	Q9HAV0	GBB4_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 4	310					cell death (GO:0008219)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	protein complex binding (GO:0032403)|signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	16	all_cancers(143;2.01e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.237)			GTTGTCATGACCAGCAAGGAC	0.383																																					p.G310A	Melanoma(105;1405 1491 7265 20440 33721)	.											.	GNB4	228	0			c.G929C						.						62.0	57.0	58.0					3																	179119095		2203	4300	6503	SO:0001583	missense	59345	exon10			TCATGACCAGCAA	AF300648	CCDS3230.1	3q27.1	2013-01-10			ENSG00000114450	ENSG00000114450		"""WD repeat domain containing"""	20731	protein-coding gene	gene with protein product		610863				10644457, 11842130	Standard	NM_021629		Approved		uc003fjv.4	Q9HAV0	OTTHUMG00000157440	ENST00000232564.3:c.929G>C	3.37:g.179119095C>G	ENSP00000232564:p.Gly310Ala	241.0	0.0		228.0	31.0	NM_021629	B3KMH5|D3DNR8	Missense_Mutation	SNP	ENST00000232564.3	37	CCDS3230.1	.	.	.	.	.	.	.	.	.	.	C	17.67	3.446597	0.63178	.	.	ENSG00000114450	ENST00000232564;ENST00000466899;ENST00000468623	T;T	0.67698	-0.28;-0.28	4.92	4.92	0.64577	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.78735	0.4330	L	0.50993	1.605	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	T	0.80103	-0.1522	10	0.59425	D	0.04	-12.3924	18.5626	0.91105	0.0:1.0:0.0:0.0	.	310	Q9HAV0	GBB4_HUMAN	A	310;160;310	ENSP00000232564:G310A;ENSP00000419693:G310A	ENSP00000232564:G310A	G	-	2	0	GNB4	180601789	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.702000	0.84576	2.436000	0.82500	0.644000	0.83932	GGT	.		0.383	GNB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258218.1	NM_021629	
GNL2	29889	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	38033329	38033329	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr1:38033329C>T	ENST00000373062.3	-	15	2086	c.1988G>A	c.(1987-1989)aGg>aAg	p.R663K	GNL2_ENST00000462812.1_5'UTR	NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2 (nucleolar)	663					GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				TTCCTCTTCCCTTTGTGCCTT	0.398																																					p.R663K		.											.	GNL2	91	0			c.G1988A						.						208.0	196.0	200.0					1																	38033329		2203	4300	6503	SO:0001583	missense	29889	exon15			TCTTCCCTTTGTG	L05425	CCDS421.1	1p34	2008-02-05			ENSG00000134697	ENSG00000134697			29925	protein-coding gene	gene with protein product		609365				8822211	Standard	NM_013285		Approved	Ngp-1, HUMAUANTIG	uc001cbk.3	Q13823	OTTHUMG00000004322	ENST00000373062.3:c.1988G>A	1.37:g.38033329C>T	ENSP00000362153:p.Arg663Lys	142.0	0.0		115.0	24.0	NM_013285	Q9BWN7	Missense_Mutation	SNP	ENST00000373062.3	37	CCDS421.1	.	.	.	.	.	.	.	.	.	.	C	5.665	0.307227	0.10733	.	.	ENSG00000134697	ENST00000373062	T	0.20738	2.05	4.88	2.48	0.30137	.	0.315524	0.36893	N	0.002345	T	0.07279	0.0184	N	0.11427	0.14	0.21256	N	0.999745	B	0.02656	0.0	B	0.04013	0.001	T	0.32587	-0.9901	10	0.08179	T	0.78	-8.7647	2.502	0.04636	0.3076:0.4952:0.0:0.1971	.	663	Q13823	NOG2_HUMAN	K	663	ENSP00000362153:R663K	ENSP00000362153:R663K	R	-	2	0	GNL2	37805916	1.000000	0.71417	0.997000	0.53966	0.521000	0.34408	2.081000	0.41596	1.119000	0.41883	0.591000	0.81541	AGG	.		0.398	GNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012478.1	NM_013285	
GNPAT	8443	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	231411879	231411879	+	Splice_Site	SNP	A	A	G			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr1:231411879A>G	ENST00000366647.4	+	15	2106		c.e15-1		GNPAT_ENST00000469332.1_Splice_Site|GNPAT_ENST00000366646.3_Splice_Site	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase						cellular lipid metabolic process (GO:0044255)|cerebellum morphogenesis (GO:0021587)|ether lipid biosynthetic process (GO:0008611)|glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|paranodal junction assembly (GO:0030913)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to fatty acid (GO:0070542)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	glycerone-phosphate O-acyltransferase activity (GO:0016287)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				ATTTTCTCCTAGAAATAATAA	0.284																																					.		.											.	GNPAT	156	0			c.1938-2A>G						.						19.0	21.0	21.0					1																	231411879		2170	4283	6453	SO:0001630	splice_region_variant	8443	exon15			TCTCCTAGAAATA	AF043937	CCDS1592.1	1q42	2008-02-05			ENSG00000116906	ENSG00000116906	2.3.1.42		4416	protein-coding gene	gene with protein product		602744				9459311, 9536089	Standard	NM_014236		Approved	DHAPAT, DAPAT, DAP-AT	uc001hup.4	O15228	OTTHUMG00000038024	ENST00000366647.4:c.1938-1A>G	1.37:g.231411879A>G		201.0	0.0		345.0	33.0	NM_014236	B4DNM9|Q5TBH7|Q9BWC2	Splice_Site	SNP	ENST00000366647.4	37	CCDS1592.1	.	.	.	.	.	.	.	.	.	.	A	15.94	2.982392	0.53827	.	.	ENSG00000116906	ENST00000366647;ENST00000366646	.	.	.	4.76	4.76	0.60689	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.6648	0.56835	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GNPAT	229478502	1.000000	0.71417	0.919000	0.36401	0.838000	0.47535	4.953000	0.63624	2.006000	0.58801	0.460000	0.39030	.	.		0.284	GNPAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092871.1		Intron
GP1BA	2811	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	4837033	4837033	+	Silent	SNP	C	C	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr17:4837033C>A	ENST00000329125.5	+	2	1209	c.1134C>A	c.(1132-1134)tcC>tcA	p.S378S		NM_000173.5	NP_000164.5	P07359	GP1BA_HUMAN	glycoprotein Ib (platelet), alpha polypeptide	378	Pro/Thr-rich.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|fibrinolysis (GO:0042730)|platelet activation (GO:0030168)|regulation of blood coagulation (GO:0030193)|thrombin receptor signaling pathway (GO:0070493)	anchored component of external side of plasma membrane (GO:0031362)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	thrombin receptor activity (GO:0015057)			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1)	20						CTCCAAAATCCACTACTGAAC	0.557																																					p.S378S		.											.	.	.	0			c.C1134A						.						134.0	141.0	139.0					17																	4837033		1949	4142	6091	SO:0001819	synonymous_variant	2811	exon2			AAAATCCACTACT		CCDS54068.1	17p13.2	2014-09-17			ENSG00000185245	ENSG00000185245		"""CD molecules"""	4439	protein-coding gene	gene with protein product		606672		GP1B		3353370	Standard	NM_000173		Approved	CD42b	uc021tnz.1	P07359	OTTHUMG00000177946	ENST00000329125.5:c.1134C>A	17.37:g.4837033C>A		105.0	0.0		130.0	59.0	NM_000173	E7ES66|Q14441|Q16469|Q8N1F3|Q8NG39|Q9HDC7|Q9UEK1|Q9UQS4	Silent	SNP	ENST00000329125.5	37	CCDS54068.1																																																																																			.		0.557	GP1BA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439889.1		
GPA33	10223	broad.mit.edu;bcgsc.ca	37	1	167038166	167038166	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr1:167038166C>A	ENST00000367868.3	-	3	751	c.408G>T	c.(406-408)ttG>ttT	p.L136F	GPA33_ENST00000527955.1_5'UTR	NM_005814.1	NP_005805.1	Q99795	GPA33_HUMAN	glycoprotein A33 (transmembrane)	136						extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						CACCGAGGACCAACAGGCGGA	0.567																																					p.L136F		.											.	GPA33	90	0			c.G408T						.						162.0	128.0	140.0					1																	167038166		2203	4300	6503	SO:0001583	missense	10223	exon3			GAGGACCAACAGG	U79725	CCDS1258.1	1q24.1	2013-01-29			ENSG00000143167	ENSG00000143167		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	4445	protein-coding gene	gene with protein product		602171				9012807, 9245713	Standard	NM_005814		Approved	A33	uc001gea.1	Q99795	OTTHUMG00000034435	ENST00000367868.3:c.408G>T	1.37:g.167038166C>A	ENSP00000356842:p.Leu136Phe	175.0	1.0		343.0	30.0	NM_005814	Q5VZP6	Missense_Mutation	SNP	ENST00000367868.3	37	CCDS1258.1	.	.	.	.	.	.	.	.	.	.	C	10.33	1.321138	0.23994	.	.	ENSG00000143167	ENST00000367868	T	0.04360	3.64	5.35	1.08	0.20341	Immunoglobulin-like fold (1);	0.365383	0.27249	N	0.020222	T	0.03827	0.0108	L	0.43554	1.36	0.33692	D	0.613464	D	0.76494	0.999	D	0.73708	0.981	T	0.42361	-0.9456	10	0.28530	T	0.3	.	1.9219	0.03309	0.1591:0.5052:0.1546:0.1812	.	136	Q99795	GPA33_HUMAN	F	136	ENSP00000356842:L136F	ENSP00000356842:L136F	L	-	3	2	GPA33	165304790	0.966000	0.33281	0.955000	0.39395	0.199000	0.23934	0.115000	0.15540	0.722000	0.32252	0.655000	0.94253	TTG	.		0.567	GPA33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083245.1	NM_005814	
GPM6B	2824	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	13801604	13801604	+	Silent	SNP	C	C	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chrX:13801604C>T	ENST00000356942.5	-	3	726	c.285G>A	c.(283-285)gcG>gcA	p.A95A	GPM6B_ENST00000316715.4_Silent_p.A135A|GPM6B_ENST00000493677.1_Silent_p.A109A|GPM6B_ENST00000355135.2_Silent_p.A135A|GPM6B_ENST00000398361.3_Silent_p.A9A|GPM6B_ENST00000454189.2_Silent_p.A76A	NM_005278.3	NP_005269.1	Q13491	GPM6B_HUMAN	glycoprotein M6B	95					cell differentiation (GO:0030154)|extracellular matrix assembly (GO:0085029)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of serotonin uptake (GO:0051612)|nervous system development (GO:0007399)|ossification (GO:0001503)|positive regulation of bone mineralization (GO:0030501)|protein transport (GO:0015031)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of focal adhesion assembly (GO:0051893)	integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|pancreas(1)	6						AGAAAAAGGACGCAATTCCAT	0.423																																					p.A135A		.											.	GPM6B	130	0			c.G405A						.						159.0	140.0	146.0					X																	13801604		2203	4300	6503	SO:0001819	synonymous_variant	2824	exon4			AAAGGACGCAATT		CCDS14158.1, CCDS35206.1, CCDS35207.1, CCDS48084.1	Xp22.2	2010-08-03			ENSG00000046653	ENSG00000046653			4461	protein-coding gene	gene with protein product		300051				8661015	Standard	NM_001001995		Approved	M6B, MGC17150, MGC54284	uc004cvw.3	Q13491	OTTHUMG00000021162	ENST00000356942.5:c.285G>A	X.37:g.13801604C>T		209.0	0.0		210.0	29.0	NM_001001995	O76077|Q86X43|Q8N956	Silent	SNP	ENST00000356942.5	37	CCDS14158.1																																																																																			.		0.423	GPM6B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055822.1	NM_001001995	
GPR116	221395	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	46823751	46823751	+	Silent	SNP	A	A	G			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr6:46823751A>G	ENST00000283296.7	-	20	4209	c.3921T>C	c.(3919-3921)tcT>tcC	p.S1307S	GPR116_ENST00000265417.7_Silent_p.S1307S|GPR116_ENST00000456426.2_Silent_p.S1165S|GPR116_ENST00000362015.4_Silent_p.S1287S|GPR116_ENST00000545669.1_Silent_p.S736S	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	1307					energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TTGATATTGGAGAACTCATAG	0.423																																					p.S1307S	NSCLC(59;410 1274 8751 36715 50546)	.											.	GPR116	91	0			c.T3921C						.						56.0	50.0	52.0					6																	46823751		2203	4296	6499	SO:0001819	synonymous_variant	221395	exon20			TATTGGAGAACTC	AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.3921T>C	6.37:g.46823751A>G		380.0	0.0		547.0	75.0	NM_015234	O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Silent	SNP	ENST00000283296.7	37	CCDS4919.1																																																																																			.		0.423	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234	
GPR158	57512	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	25887663	25887663	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr10:25887663G>T	ENST00000376351.3	+	11	3467	c.3108G>T	c.(3106-3108)atG>atT	p.M1036I	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	1036					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.M1036I(1)|p.M1036_E1037>IK(1)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CTTCTGAAATGGAGAAAAACC	0.463																																					p.M1036I		.											.	GPR158	141	2	Substitution - Missense(1)|Complex - compound substitution(1)	lung(2)	c.G3108T						.						72.0	70.0	71.0					10																	25887663		2203	4300	6503	SO:0001583	missense	57512	exon11			TGAAATGGAGAAA	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.3108G>T	10.37:g.25887663G>T	ENSP00000365529:p.Met1036Ile	88.0	0.0		110.0	31.0	NM_020752	Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	G	6.532	0.466459	0.12402	.	.	ENSG00000151025	ENST00000376351	T	0.28454	1.61	5.27	1.02	0.19986	.	0.582024	0.17324	N	0.178381	T	0.19485	0.0468	L	0.36672	1.1	0.22684	N	0.998852	B	0.02656	0.0	B	0.09377	0.004	T	0.13926	-1.0491	10	0.40728	T	0.16	.	4.7247	0.12935	0.3964:0.272:0.3316:0.0	.	1036	Q5T848	GP158_HUMAN	I	1036	ENSP00000365529:M1036I	ENSP00000365529:M1036I	M	+	3	0	GPR158	25927669	0.062000	0.20869	1.000000	0.80357	0.983000	0.72400	-0.120000	0.10660	0.593000	0.29745	0.655000	0.94253	ATG	.		0.463	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110	
GPX6	257202	broad.mit.edu;bcgsc.ca;mdanderson.org	37	6	28473513	28473513	+	Silent	SNP	T	T	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr6:28473513T>A	ENST00000361902.1	-	4	475	c.426A>T	c.(424-426)ggA>ggT	p.G142G	GPX6_ENST00000483058.1_5'Flank|GPX6_ENST00000474923.1_Intron	NM_182701.1	NP_874360.1	P59796	GPX6_HUMAN	glutathione peroxidase 6 (olfactory)	142					response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)	glutathione peroxidase activity (GO:0004602)			NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	GTTCTTTTTCTCCATTCACAT	0.463																																					.		.											.	GPX6	95	0			.						.						93.0	98.0	97.0					6																	28473513		2131	4264	6395	SO:0001819	synonymous_variant	257202	.			TTTTTCTCCATTC		CCDS43432.1	6p22.1	2012-03-01			ENSG00000198704	ENSG00000198704	1.11.1.9		4558	protein-coding gene	gene with protein product		607913	"""glutathione peroxidase pseudogene 3"""	GPXP3			Standard	NM_182701		Approved		uc021yrx.1	P59796	OTTHUMG00000044828	ENST00000361902.1:c.426A>T	6.37:g.28473513T>A		117.0	0.0		158.0	10.0	.	Q4PJ17	Silent	SNP	ENST00000361902.1	37	CCDS43432.1																																																																																			.		0.463	GPX6-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000104340.1		
GPR31	2853	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	6	167570796	167570796	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr6:167570796A>T	ENST00000366834.1	-	1	1021	c.524T>A	c.(523-525)aTc>aAc	p.I175N		NM_005299.2	NP_005290.2	O00270	GPR31_HUMAN	G protein-coupled receptor 31	175					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1)	17		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)		CTGCCAGATGATGCTGAAGGA	0.582																																					p.I175N		.											.	GPR31	90	0			c.T524A						.						91.0	98.0	96.0					6																	167570796		2203	4300	6503	SO:0001583	missense	2853	exon1			CAGATGATGCTGA	U65402	CCDS5299.1	6q27	2012-08-21				ENSG00000120436		"""GPCR / Class A : Orphans"""	4486	protein-coding gene	gene with protein product	"""hydroxyeicosatetraenoic (HETE) acid receptor 1"", ""12-(S)-HETE acid receptor"""	602043				9205127, 21712392	Standard	NM_005299		Approved	HETER1, 12-HETER	uc011egq.2	O00270		ENST00000366834.1:c.524T>A	6.37:g.167570796A>T	ENSP00000355799:p.Ile175Asn	80.0	0.0		95.0	6.0	NM_005299	B0M0K2|Q4VBL3|Q9NQ20	Missense_Mutation	SNP	ENST00000366834.1	37	CCDS5299.1	.	.	.	.	.	.	.	.	.	.	A	0.030	-1.342818	0.01277	.	.	ENSG00000120436	ENST00000366834	T	0.37058	1.22	3.51	-7.01	0.01594	GPCR, rhodopsin-like superfamily (1);	2.652600	0.02280	U	0.069294	T	0.07052	0.0179	L	0.27053	0.805	0.09310	N	1	B	0.06786	0.001	B	0.14023	0.01	T	0.10382	-1.0632	10	0.56958	D	0.05	-6.3835	1.4616	0.02397	0.1533:0.2113:0.3534:0.282	.	175	O00270	GPR31_HUMAN	N	175	ENSP00000355799:I175N	ENSP00000355799:I175N	I	-	2	0	GPR31	167490786	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-1.680000	0.01939	-1.692000	0.01428	-0.981000	0.02577	ATC	.		0.582	GPR31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043111.1	NM_005299	
GRAMD4	23151	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	22	47059981	47059981	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr22:47059981G>T	ENST00000406902.1	+	8	897	c.684G>T	c.(682-684)tgG>tgT	p.W228C	GRAMD4_ENST00000361034.3_Missense_Mutation_p.W228C			Q6IC98	GRAM4_HUMAN	GRAM domain containing 4	228					apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		TATCCGACTGGTACTCCGTCT	0.597																																					p.W228C		.											.	GRAMD4	23	0			c.G684T						.						206.0	155.0	172.0					22																	47059981		2203	4300	6503	SO:0001583	missense	23151	exon7			CGACTGGTACTCC		CCDS33672.1	22q13.31	2008-03-03			ENSG00000075240	ENSG00000075240			29113	protein-coding gene	gene with protein product	"""death-inducing-protein"""	613691				15565177	Standard	NM_015124		Approved	KIAA0767, DIP	uc003bhx.3	Q6IC98	OTTHUMG00000150402	ENST00000406902.1:c.684G>T	22.37:g.47059981G>T	ENSP00000385689:p.Trp228Cys	202.0	1.0		228.0	63.0	NM_015124	A9IN51|A9IN57|Q68EN0|Q9UGE6|Q9Y4B9	Missense_Mutation	SNP	ENST00000406902.1	37	CCDS33672.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.6|21.6	4.178671|4.178671	0.78564|0.78564	.|.	.|.	ENSG00000075240|ENSG00000075240	ENST00000456069|ENST00000406902;ENST00000361034	.|T;T	.|0.43688	.|0.94;0.94	4.86|4.86	4.86|4.86	0.63082|0.63082	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.61324|0.61324	0.2338|0.2338	L|L	0.58101|0.58101	1.795|1.795	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|0.999;1.0	.|D;D	.|0.91635	.|0.995;0.999	T|T	0.64647|0.64647	-0.6358|-0.6358	5|10	.|0.87932	.|D	.|0	-26.0989|-26.0989	15.9154|15.9154	0.79512|0.79512	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|50;228	.|B0QZ08;Q6IC98	.|.;GRAM4_HUMAN	L|C	51|228	.|ENSP00000385689:W228C;ENSP00000354313:W228C	.|ENSP00000354313:W228C	V|W	+|+	1|3	0|0	GRAMD4|GRAMD4	45438645|45438645	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.961000|0.961000	0.63080|0.63080	8.985000|8.985000	0.93487|0.93487	2.430000|2.430000	0.82344|0.82344	0.555000|0.555000	0.69702|0.69702	GTA|TGG	.		0.597	GRAMD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317969.1	NM_015124	
GRIA2	2891	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	158257592	158257592	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr4:158257592T>A	ENST00000264426.9	+	11	1816	c.1537T>A	c.(1537-1539)Tca>Aca	p.S513T	GRIA2_ENST00000449365.1_Missense_Mutation_p.S466T|GRIA2_ENST00000296526.7_Missense_Mutation_p.S513T|GRIA2_ENST00000507898.1_Missense_Mutation_p.S466T|GRIA2_ENST00000393815.2_Missense_Mutation_p.S466T	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	513					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	GATTGACTTCTCAAAGCCCTT	0.408																																					p.S513T		.											.	GRIA2	515	0			c.T1537A						.						168.0	167.0	167.0					4																	158257592		2203	4300	6503	SO:0001583	missense	2891	exon11			GACTTCTCAAAGC		CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.1537T>A	4.37:g.158257592T>A	ENSP00000264426:p.Ser513Thr	164.0	0.0		144.0	45.0	NM_000826	A8MT92|I6L997|Q96FP6	Missense_Mutation	SNP	ENST00000264426.9	37	CCDS43274.1	.	.	.	.	.	.	.	.	.	.	T	17.86	3.493758	0.64186	.	.	ENSG00000120251	ENST00000507898;ENST00000393815;ENST00000296526;ENST00000264426;ENST00000449365	T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03	5.46	5.46	0.80206	Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.42017	0.1184	N	0.05554	-0.025	0.80722	D	1	P;B;D	0.54964	0.92;0.292;0.969	B;B;D	0.63381	0.444;0.097;0.914	T	0.44667	-0.9313	10	0.31617	T	0.26	.	15.8205	0.78638	0.0:0.0:0.0:1.0	.	513;513;466	P42262;P42262-2;A8MT92	GRIA2_HUMAN;.;.	T	466;466;513;513;466	ENSP00000426845:S466T;ENSP00000377403:S466T;ENSP00000296526:S513T;ENSP00000264426:S513T;ENSP00000389837:S466T	ENSP00000264426:S513T	S	+	1	0	GRIA2	158477042	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.997000	0.88414	2.196000	0.70406	0.533000	0.62120	TCA	.		0.408	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2		
GRIN2A	2903	ucsc.edu;bcgsc.ca	37	16	9862846	9862846	+	Silent	SNP	G	G	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr16:9862846G>A	ENST00000396573.2	-	13	2766	c.2457C>T	c.(2455-2457)ggC>ggT	p.G819G	GRIN2A_ENST00000562109.1_Silent_p.G819G|GRIN2A_ENST00000535259.1_Silent_p.G662G|GRIN2A_ENST00000330684.3_Silent_p.G819G|GRIN2A_ENST00000396575.2_Silent_p.G819G|GRIN2A_ENST00000404927.2_Silent_p.G819G	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	819					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TGTAGAATACGCCCGCCATGT	0.572																																					p.G819G		.											.	GRIN2A	349	0			c.C2457T						.						111.0	88.0	96.0					16																	9862846		2197	4300	6497	SO:0001819	synonymous_variant	2903	exon13			GAATACGCCCGCC		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.2457C>T	16.37:g.9862846G>A		133.0	1.0		114.0	12.0	NM_000833	O00669|Q17RZ6	Silent	SNP	ENST00000396573.2	37	CCDS10539.1																																																																																			.		0.572	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3		
GRK7	131890	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	141497352	141497352	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr3:141497352A>T	ENST00000264952.2	+	1	363	c.226A>T	c.(226-228)Aca>Tca	p.T76S		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	76	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						CTTCCTAGCCACAGTGCCCAC	0.657																																					p.T76S		.											.	GRK7	522	0			c.A226T						.						26.0	25.0	25.0					3																	141497352		2201	4292	6493	SO:0001583	missense	131890	exon1			CTAGCCACAGTGC		CCDS3120.1	3q24	2004-02-04	2004-02-04	2004-02-04	ENSG00000114124	ENSG00000114124			17031	protein-coding gene	gene with protein product		606987		GPRK7		11717351, 11754336	Standard	NM_139209		Approved		uc011bnd.2	Q8WTQ7	OTTHUMG00000159068	ENST00000264952.2:c.226A>T	3.37:g.141497352A>T	ENSP00000264952:p.Thr76Ser	97.0	0.0		82.0	11.0	NM_139209		Missense_Mutation	SNP	ENST00000264952.2	37	CCDS3120.1	.	.	.	.	.	.	.	.	.	.	A	5.777	0.327664	0.10956	.	.	ENSG00000114124	ENST00000264952	T	0.02258	4.37	4.5	2.02	0.26589	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.277794	0.36665	N	0.002479	T	0.02230	0.0069	L	0.47716	1.5	0.31971	N	0.607198	B	0.18461	0.028	B	0.15052	0.012	T	0.31308	-0.9948	10	0.24483	T	0.36	-6.5237	6.0404	0.19730	0.7748:0.0:0.0804:0.1448	.	76	Q8WTQ7	GRK7_HUMAN	S	76	ENSP00000264952:T76S	ENSP00000264952:T76S	T	+	1	0	GRK7	142980042	0.989000	0.36119	0.551000	0.28230	0.123000	0.20343	1.878000	0.39608	0.113000	0.18004	0.533000	0.62120	ACA	.		0.657	GRK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353168.1	NM_139209	
GRM1	2911	hgsc.bcm.edu;broad.mit.edu	37	6	146755591	146755591	+	Silent	SNP	C	C	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr6:146755591C>T	ENST00000282753.1	+	8	3479	c.3244C>T	c.(3244-3246)Ctg>Ttg	p.L1082L	GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000361719.2_Silent_p.L1082L			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1082					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		GCCGCTGCAGCTGAGCACCTT	0.692																																					p.L1082L		.											.	GRM1	1080	0			c.C3244T						.						47.0	52.0	50.0					6																	146755591		2201	4300	6501	SO:0001819	synonymous_variant	2911	exon9			CTGCAGCTGAGCA	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.3244C>T	6.37:g.146755591C>T		41.0	0.0		44.0	5.0	NM_000838	B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Silent	SNP	ENST00000282753.1	37	CCDS5209.1																																																																																			.		0.692	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838	
GRM7	2917	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	7620822	7620822	+	Silent	SNP	C	C	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr3:7620822C>T	ENST00000357716.4	+	8	2503	c.2229C>T	c.(2227-2229)gcC>gcT	p.A743A	GRM7_ENST00000486284.1_Silent_p.A743A|GRM7_ENST00000402647.2_Silent_p.A743A|GRM7_ENST00000403881.1_Silent_p.A743A|GRM7_ENST00000389336.4_Silent_p.A743A|GRM7_ENST00000458641.2_3'UTR	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	743					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						CTGAGCAAGCCAGAGGGGTTC	0.428																																					p.A743A		.											.	GRM7	526	0			c.C2229T						.						126.0	112.0	117.0					3																	7620822		2203	4300	6503	SO:0001819	synonymous_variant	2917	exon8			GCAAGCCAGAGGG	U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 87"""	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.2229C>T	3.37:g.7620822C>T		225.0	0.0		192.0	44.0	NM_000844	Q8NFS2|Q8NFS3|Q8NFS4	Silent	SNP	ENST00000357716.4	37	CCDS43042.1																																																																																			.		0.428	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844	
GTF3C1	2975	broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	27506737	27506737	+	Silent	SNP	G	G	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr16:27506737G>A	ENST00000356183.4	-	15	2442	c.2427C>T	c.(2425-2427)taC>taT	p.Y809Y	GTF3C1_ENST00000561623.1_Silent_p.Y809Y	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	809					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CGTAGATGAGGTACCACAGAA	0.587																																					p.Y809Y		.											.	GTF3C1	94	0			c.C2427T						.						45.0	39.0	41.0					16																	27506737		2197	4300	6497	SO:0001819	synonymous_variant	2975	exon15			GATGAGGTACCAC	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.2427C>T	16.37:g.27506737G>A		149.0	2.0		132.0	28.0	NM_001520	B2RP21|Q12838|Q6DKN9|Q9Y4W9	Silent	SNP	ENST00000356183.4	37	CCDS32414.1																																																																																			.		0.587	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520	
GZMK	3003	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	54320546	54320546	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr5:54320546G>A	ENST00000231009.2	+	2	193	c.123G>A	c.(121-123)atG>atA	p.M41I	CTD-2313F11.1_ENST00000595218.1_RNA|CTD-2313F11.1_ENST00000608466.1_RNA|CTD-2313F11.1_ENST00000609699.1_RNA|CTD-2313F11.1_ENST00000371487.3_RNA|CTD-2313F11.1_ENST00000596137.1_RNA|ESM1_ENST00000598310.1_5'Flank|CTD-2313F11.1_ENST00000607910.1_RNA|CTD-2313F11.1_ENST00000596909.2_RNA|CTD-2313F11.1_ENST00000608929.1_RNA	NM_002104.2	NP_002095.1	P49863	GRAK_HUMAN	granzyme K (granzyme 3; tryptase II)	41	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)	15		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				GGCCATTTATGGCCTCCATCC	0.463																																					p.M41I		.											.	GZMK	90	0			c.G123A						.						56.0	58.0	57.0					5																	54320546		2203	4300	6503	SO:0001583	missense	3003	exon2			ATTTATGGCCTCC	BC035802	CCDS3964.1	5q11.2	2008-05-15	2005-08-17		ENSG00000113088	ENSG00000113088			4711	protein-coding gene	gene with protein product		600784	"""granzyme K (serine protease, granzyme 3; tryptase II)"""			7758581	Standard	NM_002104		Approved	TRYP2, PRSS	uc003jpl.1	P49863	OTTHUMG00000097009	ENST00000231009.2:c.123G>A	5.37:g.54320546G>A	ENSP00000231009:p.Met41Ile	143.0	1.0		156.0	25.0	NM_002104	B2R563	Missense_Mutation	SNP	ENST00000231009.2	37	CCDS3964.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.039447	0.75617	.	.	ENSG00000113088	ENST00000231009	D	0.88586	-2.4	5.11	5.11	0.69529	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.90827	0.7119	M	0.62266	1.93	0.58432	D	0.999996	B	0.21309	0.054	B	0.39419	0.299	D	0.88373	0.2996	10	0.54805	T	0.06	.	17.8196	0.88647	0.0:0.0:1.0:0.0	.	41	P49863	GRAK_HUMAN	I	41	ENSP00000231009:M41I	ENSP00000231009:M41I	M	+	3	0	GZMK	54356303	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	6.108000	0.71522	2.814000	0.96858	0.591000	0.81541	ATG	.		0.463	GZMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214098.1	NM_002104	
HELB	92797	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	12	66704296	66704296	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr12:66704296A>T	ENST00000247815.4	+	4	1647	c.1588A>T	c.(1588-1590)Aag>Tag	p.K530*		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	530					DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication, synthesis of RNA primer (GO:0006269)		ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|single-stranded DNA-dependent ATP-dependent DNA helicase activity (GO:0017116)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		AGAGGCGGACAAGGCTATAGA	0.423																																					p.K530X		.											.	HELB	515	0			c.A1588T						.						125.0	134.0	131.0					12																	66704296		2203	4300	6503	SO:0001587	stop_gained	92797	exon4			GCGGACAAGGCTA	AF319995	CCDS8976.1	12q14.2	2009-01-15			ENSG00000127311	ENSG00000127311			17196	protein-coding gene	gene with protein product		614539				12181327	Standard	NM_033647		Approved		uc001sti.3	Q8NG08	OTTHUMG00000169006	ENST00000247815.4:c.1588A>T	12.37:g.66704296A>T	ENSP00000247815:p.Lys530*	101.0	0.0		144.0	18.0	NM_033647	A8K4C9|Q4G0T2|Q9H7L5	Nonsense_Mutation	SNP	ENST00000247815.4	37	CCDS8976.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.197075	0.79015	.	.	ENSG00000127311	ENST00000247815	.	.	.	6.04	3.63	0.41609	.	0.237672	0.41500	D	0.000878	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-18.5058	2.2931	0.04144	0.6062:0.1353:0.1293:0.1292	.	.	.	.	X	530	.	.	K	+	1	0	HELB	64990563	0.386000	0.25180	0.469000	0.27204	0.083000	0.17756	1.723000	0.38053	0.492000	0.27815	0.459000	0.35465	AAG	.		0.423	HELB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401919.1		
HERC2P3	283755	broad.mit.edu;mdanderson.org	37	15	20657690	20657690	+	RNA	SNP	C	C	T	rs528953010		TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr15:20657690C>T	ENST00000428453.1	-	0	2268							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						AGGTTGTTTGCGCTGTGCTGC	0.602													.|||	1	0.000199681	0.0008	0.0	5008	,	,		17289	0.0		0.0	False		,,,				2504	0.0				.		.											.	HERC2P3	92	0			.						.						15.0	13.0	14.0					15																	20657690		1499	3166	4665			283755	.			TGTTTGCGCTGTG	AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20657690C>T		64.0	0.0		59.0	7.0	.		RNA	SNP	ENST00000428453.1	37																																																																																				.		0.602	HERC2P3-014	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347772.2	NG_008269	
HEXA	3073	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	15	72643535	72643535	+	Missense_Mutation	SNP	T	T	A	rs121907976		TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr15:72643535T>A	ENST00000268097.5	-	6	1114	c.611A>T	c.(610-612)cAt>cTt	p.H204L	HEXA_ENST00000566304.1_Missense_Mutation_p.H215L|HEXA_ENST00000457859.2_Missense_Mutation_p.H12L|HEXA_ENST00000567159.1_Missense_Mutation_p.H204L|RP11-106M3.2_ENST00000379915.4_RNA|RP11-106M3.3_ENST00000570175.1_RNA|HEXA_ENST00000429918.2_Missense_Mutation_p.H31L	NM_000520.4	NP_000511.2	P06865	HEXA_HUMAN	hexosaminidase A (alpha polypeptide)	204			H -> R (in GM2G1; infantile).		carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-N-acetylhexosaminidase activity (GO:0004563)|protein heterodimerization activity (GO:0046982)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						ATCTACCAGATGCCAGTGGAA	0.453																																					p.H204L		.											.	HEXA	94	0			c.A611T	GRCh37	CM930394	HEXA	M	rs121907976	.						174.0	145.0	155.0					15																	72643535		2199	4297	6496	SO:0001583	missense	3073	exon6			ACCAGATGCCAGT	M13520	CCDS10243.1	15q24.1	2012-10-02			ENSG00000213614	ENSG00000213614	3.2.1.52		4878	protein-coding gene	gene with protein product	"""Tay Sachs disease"", ""GM2 gangliosidosis"""	606869				2952641, 3013851	Standard	NM_000520		Approved		uc002aun.4	P06865	OTTHUMG00000133445	ENST00000268097.5:c.611A>T	15.37:g.72643535T>A	ENSP00000268097:p.His204Leu	116.0	0.0		174.0	24.0	NM_000520	B4DKE7|E7ENH7|Q53HS8|Q6AI32	Missense_Mutation	SNP	ENST00000268097.5	37	CCDS10243.1	.	.	.	.	.	.	.	.	.	.	T	34	5.303095	0.95601	.	.	ENSG00000213614	ENST00000268097;ENST00000457859;ENST00000429918	D;D;D	0.98602	-5.02;-5.02;-5.02	5.78	5.78	0.91487	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycoside hydrolase, family 20, catalytic core (1);Glycoside hydrolase, family 20 (1);	0.000000	0.85682	D	0.000000	D	0.99560	0.9842	H	0.99881	4.885	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.97392	0.9990	10	0.87932	D	0	-24.6736	16.1109	0.81263	0.0:0.0:0.0:1.0	.	31;215;31;84;204	E9PGL4;B4DVA7;B4DVL8;Q9BVJ8;P06865	.;.;.;.;HEXA_HUMAN	L	204;12;31	ENSP00000268097:H204L;ENSP00000398026:H12L;ENSP00000416187:H31L	ENSP00000268097:H204L	H	-	2	0	HEXA	70430589	1.000000	0.71417	0.946000	0.38457	0.996000	0.88848	7.940000	0.87693	2.185000	0.69588	0.533000	0.62120	CAT	.		0.453	HEXA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257317.2	NM_000520	
HIP1R	9026	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	12	123338690	123338690	+	Silent	SNP	C	C	T	rs35154568		TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr12:123338690C>T	ENST00000253083.4	+	8	803	c.678C>T	c.(676-678)ctC>ctT	p.L226L		NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN	huntingtin interacting protein 1 related	226					receptor-mediated endocytosis (GO:0006898)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)	phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		GCAGCCACCTCTACCACTACA	0.582																																					p.L226L		.											.	HIP1R	91	0			c.C678T						.						117.0	103.0	108.0					12																	123338690		2203	4300	6503	SO:0001819	synonymous_variant	9026	exon8			CCACCTCTACCAC	AB013384	CCDS31922.1	12q24	2007-12-07			ENSG00000130787	ENSG00000130787			18415	protein-coding gene	gene with protein product		605613				16415883	Standard	NM_003959		Approved	KIAA0655, HIP3, HIP12, FLJ14000, ILWEQ	uc001udj.1	O75146	OTTHUMG00000168765	ENST00000253083.4:c.678C>T	12.37:g.123338690C>T		88.0	0.0		61.0	5.0	NM_003959	A6NHQ6|Q6NXG8|Q9UED9	Silent	SNP	ENST00000253083.4	37	CCDS31922.1																																																																																			.		0.582	HIP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400935.1	NM_003959	
HLA-E	3133	broad.mit.edu;bcgsc.ca;mdanderson.org	37	6	30457636	30457636	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr6:30457636G>T	ENST00000376630.4	+	2	263	c.198G>T	c.(196-198)atG>atT	p.M66I		NM_005516.5	NP_005507.3	P13747	HLAE_HUMAN	major histocompatibility complex, class I, E	66	Alpha-1.				antigen processing and presentation of endogenous peptide antigen via MHC class Ib (GO:0002476)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of natural killer cell mediated immunity (GO:0002717)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protection from natural killer cell mediated cytotoxicity (GO:0042270)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	MHC class I protein binding (GO:0042288)|peptide antigen binding (GO:0042605)			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(2)|lung(1)|ovary(3)|skin(1)|urinary_tract(1)	18						GTCCGAGGATGGTGCCGCGGG	0.672																																					p.M66I		.											.	HLA-E	516	0			c.G198T						.						63.0	71.0	68.0					6																	30457636		1511	2708	4219	SO:0001583	missense	3133	exon2			GAGGATGGTGCCG	M20022	CCDS34379.1	6p21.3	2013-01-11			ENSG00000204592	ENSG00000204592		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4962	protein-coding gene	gene with protein product		143010				3131426	Standard	NM_005516		Approved		uc003nqg.3	P13747	OTTHUMG00000031155	ENST00000376630.4:c.198G>T	6.37:g.30457636G>T	ENSP00000365817:p.Met66Ile	78.0	1.0		86.0	29.0	NM_005516	Q30169|Q9BT83|Q9GIY7|Q9GIY8	Missense_Mutation	SNP	ENST00000376630.4	37	CCDS34379.1	.	.	.	.	.	.	.	.	.	.	.	15.64	2.893481	0.52121	.	.	ENSG00000204592	ENST00000376630	T	0.00009	9.51	1.67	-0.813	0.10850	.	1.284760	0.06112	U	0.667433	T	0.00109	0.0003	M	0.85710	2.77	0.09310	N	1	P;P	0.48230	0.907;0.907	D;D	0.63703	0.917;0.917	T	0.12218	-1.0556	10	0.42905	T	0.14	.	6.8961	0.24257	0.0:0.5746:0.4254:0.0	.	107;66	E7ENN9;Q6DU44	.;.	I	66	ENSP00000365817:M66I	ENSP00000365817:M66I	M	+	3	0	HLA-E	30565615	0.002000	0.14202	0.100000	0.21137	0.220000	0.24768	-0.001000	0.12947	-0.221000	0.09973	0.462000	0.41574	ATG	.		0.672	HLA-E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076282.2	NM_005516	
HMCN1	83872	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	186077693	186077693	+	Silent	SNP	T	T	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr1:186077693T>A	ENST00000271588.4	+	71	11182	c.10953T>A	c.(10951-10953)ccT>ccA	p.P3651P	HMCN1_ENST00000367492.2_Silent_p.P3651P	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3651	Ig-like C2-type 35.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGCCCCCACCTGTAATTACTT	0.408																																					p.P3651P		.											.	HMCN1	113	0			c.T10953A						.						94.0	84.0	88.0					1																	186077693		2203	4300	6503	SO:0001819	synonymous_variant	83872	exon71			CCCACCTGTAATT	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.10953T>A	1.37:g.186077693T>A		75.0	1.0		118.0	12.0	NM_031935	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	CCDS30956.1																																																																																			.		0.408	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	
HTR1D	3352	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	23519871	23519871	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr1:23519871A>T	ENST00000374619.1	-	1	1351	c.842T>A	c.(841-843)cTt>cAt	p.L281H	HTR1D_ENST00000314113.3_Missense_Mutation_p.L281H	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	281					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|intestine smooth muscle contraction (GO:0014827)|regulation of behavior (GO:0050795)|regulation of locomotion (GO:0040012)|response to toxic substance (GO:0009636)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Amitriptyline(DB00321)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Clozapine(DB00363)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Naratriptan(DB00952)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Risperidone(DB00734)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Sumatriptan(DB00669)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	ACTGTCAGCAAGCTTGATTTT	0.557																																					p.L281H		.											.	HTR1D	90	0			c.T842A						.						87.0	89.0	89.0					1																	23519871		2203	4300	6503	SO:0001583	missense	3352	exon1			TCAGCAAGCTTGA	M89955	CCDS231.1	1p36.3-p34.3	2012-08-08	2012-02-03		ENSG00000179546	ENSG00000179546		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5289	protein-coding gene	gene with protein product		182133	"""5-hydroxytryptamine (serotonin) receptor 1D"""	HTRL		2541503, 1662665	Standard	NM_000864		Approved	RDC4, HT1DA, 5-HT1D	uc001bgn.3	P28221	OTTHUMG00000003235	ENST00000374619.1:c.842T>A	1.37:g.23519871A>T	ENSP00000363748:p.Leu281His	96.0	0.0		61.0	14.0	NM_000864		Missense_Mutation	SNP	ENST00000374619.1	37	CCDS231.1	.	.	.	.	.	.	.	.	.	.	A	14.92	2.680737	0.47886	.	.	ENSG00000179546	ENST00000314113;ENST00000374619	T;T	0.70869	-0.52;-0.52	5.34	5.34	0.76211	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	T	0.78181	0.4243	L	0.42686	1.345	0.50813	D	0.999899	D	0.76494	0.999	D	0.76071	0.987	T	0.76945	-0.2771	10	0.36615	T	0.2	.	14.5065	0.67755	1.0:0.0:0.0:0.0	.	281	P28221	5HT1D_HUMAN	H	281	ENSP00000313661:L281H;ENSP00000363748:L281H	ENSP00000313661:L281H	L	-	2	0	HTR1D	23392458	1.000000	0.71417	0.997000	0.53966	0.859000	0.49053	7.576000	0.82467	2.037000	0.60232	0.528000	0.53228	CTT	.		0.557	HTR1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008924.1	NM_000864	
HMGB4	127540	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	34330001	34330001	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr1:34330001G>A	ENST00000522796.1	+	4	2114	c.209G>A	c.(208-210)cGa>cAa	p.R70Q	HMGB4_ENST00000519684.1_Missense_Mutation_p.R70Q|CSMD2_ENST00000373381.4_Intron|HMGB4_ENST00000425537.1_3'UTR			Q8WW32	HMGB4_HUMAN	high mobility group box 4	70						chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GACAAAGCCCGATACCAGGAA	0.468																																					p.R70Q		.											.	HMGB4	90	0			c.G209A						.						123.0	141.0	135.0					1																	34330001		2203	4300	6503	SO:0001583	missense	127540	exon2			AAGCCCGATACCA		CCDS30668.1	1p35.1	2011-07-01	2011-04-05		ENSG00000176256	ENSG00000176256		"""High-mobility group / Canonical"""	24954	protein-coding gene	gene with protein product			"""high-mobility group box 4"""				Standard	NR_033264		Approved	FLJ40388	uc001bxp.3	Q8WW32	OTTHUMG00000013143	ENST00000522796.1:c.209G>A	1.37:g.34330001G>A	ENSP00000430919:p.Arg70Gln	119.0	0.0		89.0	18.0	NM_145205	B2R4X7|Q0QWA4	Missense_Mutation	SNP	ENST00000522796.1	37	CCDS30668.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.244721	0.79912	.	.	ENSG00000176256	ENST00000519684;ENST00000522796	T;T	0.15017	2.46;2.46	5.58	2.7	0.31948	.	0.000000	0.64402	D	0.000001	T	0.19604	0.0471	M	0.72894	2.215	0.43824	D	0.996393	P	0.52170	0.951	B	0.44133	0.442	T	0.01771	-1.1277	10	0.56958	D	0.05	.	5.8675	0.18783	0.1663:0.1562:0.6774:0.0	.	70	B2R4X7	.	Q	70	ENSP00000429214:R70Q;ENSP00000430919:R70Q	ENSP00000429214:R70Q	R	+	2	0	HMGB4	34102588	1.000000	0.71417	0.469000	0.27204	0.989000	0.77384	5.402000	0.66332	0.459000	0.27016	0.609000	0.83330	CGA	.		0.468	HMGB4-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375773.1	NM_145205	
HMCN1	83872	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	1	186099815	186099815	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr1:186099815A>T	ENST00000271588.4	+	85	13445	c.13216A>T	c.(13216-13218)Atc>Ttc	p.I4406F	HMCN1_ENST00000367492.2_Missense_Mutation_p.I4406F	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4406	Ig-like C2-type 43.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CTCCCTGGCCATCTATGGCAC	0.498																																					p.I4406F		.											.	HMCN1	113	0			c.A13216T						.						76.0	78.0	77.0					1																	186099815		2203	4300	6503	SO:0001583	missense	83872	exon85			CTGGCCATCTATG	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.13216A>T	1.37:g.186099815A>T	ENSP00000271588:p.Ile4406Phe	51.0	0.0		93.0	11.0	NM_031935	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	A	28.3	4.907095	0.92107	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.79247	-1.25;-1.25	5.48	5.48	0.80851	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.87912	0.6297	M	0.78049	2.395	0.80722	D	1	D	0.61697	0.99	D	0.75484	0.986	D	0.88832	0.3306	10	0.56958	D	0.05	.	15.8623	0.79035	1.0:0.0:0.0:0.0	.	4406	Q96RW7	HMCN1_HUMAN	F	4406	ENSP00000271588:I4406F;ENSP00000356462:I4406F	ENSP00000271588:I4406F	I	+	1	0	HMCN1	184366438	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.257000	0.95545	2.205000	0.71048	0.482000	0.46254	ATC	.		0.498	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	
HTR1F	3355	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	88040703	88040703	+	Silent	SNP	C	C	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr3:88040703C>T	ENST00000319595.4	+	1	858	c.804C>T	c.(802-804)ctC>ctT	p.L268L		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	268					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Ketamine(DB01221)|Methysergide(DB00247)|Mianserin(DB06148)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	TGAGAAGTCTCAGGTCTGAAT	0.403																																					p.L268L		.											.	HTR1F	93	0			c.C804T						.						61.0	66.0	64.0					3																	88040703		2203	4300	6503	SO:0001819	synonymous_variant	3355	exon2			AAGTCTCAGGTCT	L05597	CCDS2920.1	3p12	2012-08-08	2012-02-03		ENSG00000179097	ENSG00000179097		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5292	protein-coding gene	gene with protein product		182134	"""5-hydroxytryptamine (serotonin) receptor 1F"""			8384716, 8380639	Standard	NM_000866		Approved	HTR1EL, 5-HT1F	uc003dqr.2	P30939	OTTHUMG00000159008	ENST00000319595.4:c.804C>T	3.37:g.88040703C>T		59.0	0.0		50.0	8.0	NM_000866		Silent	SNP	ENST00000319595.4	37	CCDS2920.1																																																																																			.		0.403	HTR1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352890.1	NM_000866	
HUWE1	10075	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	53563161	53563161	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chrX:53563161G>C	ENST00000342160.3	-	79	12935	c.12478C>G	c.(12478-12480)Ctg>Gtg	p.L4160V	HUWE1_ENST00000262854.6_Missense_Mutation_p.L4160V			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4160	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TTTTCCAGCAGATAAACCAGA	0.453																																					p.L4160V		.											.	HUWE1	280	0			c.C12478G						.						184.0	127.0	146.0					X																	53563161		2203	4300	6503	SO:0001583	missense	10075	exon80			CCAGCAGATAAAC	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.12478C>G	X.37:g.53563161G>C	ENSP00000340648:p.Leu4160Val	294.0	0.0		253.0	56.0	NM_031407	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.795|7.795	0.712448|0.712448	0.15306|0.15306	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000342160;ENST00000262854|ENST00000427052;ENST00000426907	T;T|.	0.63913|.	-0.07;-0.07|.	5.57|5.57	2.79|2.79	0.32731|0.32731	HECT (4);|.	0.000000|.	0.64402|.	D|.	0.000005|.	T|T	0.58481|0.58481	0.2125|0.2125	M|M	0.64170|0.64170	1.965|1.965	0.58432|0.58432	D|D	0.999998|0.999998	B;B|.	0.26363|.	0.073;0.147|.	B;B|.	0.33339|.	0.162;0.153|.	T|T	0.53507|0.53507	-0.8429|-0.8429	10|5	0.72032|.	D|.	0.01|.	.|.	5.4803|5.4803	0.16719|0.16719	0.2399:0.0:0.611:0.1491|0.2399:0.0:0.611:0.1491	.|.	4160;4144|.	Q7Z6Z7;Q7Z6Z7-2|.	HUWE1_HUMAN;.|.	V|C	4160|3193;982	ENSP00000340648:L4160V;ENSP00000262854:L4160V|.	ENSP00000262854:L4160V|.	L|S	-|-	1|2	2|0	HUWE1|HUWE1	53579886|53579886	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.495000|0.495000	0.33615|0.33615	1.850000|1.850000	0.39328|0.39328	0.624000|0.624000	0.30286|0.30286	-0.232000|-0.232000	0.12228|0.12228	CTG|TCT	.		0.453	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119	
IFIT2	3433	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	10	91066441	91066441	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr10:91066441C>T	ENST00000371826.3	+	2	897	c.728C>T	c.(727-729)gCc>gTc	p.A243V	LIPA_ENST00000487618.1_Intron|LIPA_ENST00000371837.1_Intron	NM_001547.4	NP_001538.4	P09913	IFIT2_HUMAN	interferon-induced protein with tetratricopeptide repeats 2	243					apoptotic mitochondrial changes (GO:0008637)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|negative regulation of protein binding (GO:0032091)|positive regulation of apoptotic process (GO:0043065)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12		Colorectal(252;0.0161)				TTGGAGAAAGCCCCAGGTGTA	0.438																																					p.A243V		.											.	IFIT2	92	0			c.C728T						.						78.0	78.0	78.0					10																	91066441		1981	4180	6161	SO:0001583	missense	3433	exon2			AGAAAGCCCCAGG	M14660	CCDS41548.1	10q23.31	2013-01-11			ENSG00000119922	ENSG00000119922		"""Tetratricopeptide (TTC) repeat domain containing"""	5409	protein-coding gene	gene with protein product		147040		IFI54, G10P2		3175763, 3360121	Standard	NM_001547		Approved	IFI-54, ISG-54K, cig42, GARG-39	uc009xts.3	P09913	OTTHUMG00000018707	ENST00000371826.3:c.728C>T	10.37:g.91066441C>T	ENSP00000360891:p.Ala243Val	129.0	0.0		137.0	12.0	NM_001547	Q5T767	Missense_Mutation	SNP	ENST00000371826.3	37	CCDS41548.1	.	.	.	.	.	.	.	.	.	.	C	8.312	0.822276	0.16678	.	.	ENSG00000119922	ENST00000371826	T	0.38240	1.15	4.58	-2.38	0.06622	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.684102	0.13110	U	0.413079	T	0.26412	0.0645	M	0.62723	1.935	0.09310	N	0.999999	B	0.12630	0.006	B	0.15052	0.012	T	0.25882	-1.0119	10	0.33940	T	0.23	-0.2574	1.7187	0.02907	0.1298:0.3984:0.2394:0.2324	.	243	P09913	IFIT2_HUMAN	V	243	ENSP00000360891:A243V	ENSP00000360891:A243V	A	+	2	0	IFIT2	91056421	0.002000	0.14202	0.012000	0.15200	0.069000	0.16628	0.167000	0.16602	-0.421000	0.07416	0.655000	0.94253	GCC	.		0.438	IFIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049293.1	NM_001547	
IFRD1	3475	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	112102235	112102235	+	Splice_Site	SNP	G	G	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr7:112102235G>A	ENST00000403825.3	+	7	1058		c.e7+1		IFRD1_ENST00000005558.4_Splice_Site|IFRD1_ENST00000535603.1_Splice_Site	NM_001550.3	NP_001541.2	O00458	IFRD1_HUMAN	interferon-related developmental regulator 1						adult somatic muscle development (GO:0007527)|multicellular organismal development (GO:0007275)|myoblast fate determination (GO:0007518)	nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						AGCTTGAGATGTATGTATTTT	0.338																																					.		.											.	IFRD1	91	0			c.647+1G>A						.						94.0	94.0	94.0					7																	112102235		2203	4300	6503	SO:0001630	splice_region_variant	3475	exon7			TGAGATGTATGTA	Y10313	CCDS34736.1, CCDS56504.1	7q31.1	2005-10-17			ENSG00000006652	ENSG00000006652			5456	protein-coding gene	gene with protein product		603502				9722946	Standard	NM_001550		Approved	PC4, TIS7	uc003vgh.3	O00458	OTTHUMG00000155124	ENST00000403825.3:c.797+1G>A	7.37:g.112102235G>A		67.0	0.0		71.0	8.0	NM_001197080	B7Z5G1|O75234|Q5U013|Q9BVE4	Splice_Site	SNP	ENST00000403825.3	37	CCDS34736.1	.	.	.	.	.	.	.	.	.	.	G	18.02	3.530375	0.64860	.	.	ENSG00000006652	ENST00000005558;ENST00000403825;ENST00000536259;ENST00000535603;ENST00000421296	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8426	0.96695	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IFRD1	111889471	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	5.914000	0.69964	2.775000	0.95449	0.655000	0.94253	.	.		0.338	IFRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338700.1	NM_001550	Intron
IGF1R	3480	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	15	99451929	99451929	+	Silent	SNP	C	C	T	rs542546475		TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr15:99451929C>T	ENST00000268035.6	+	6	1874	c.1263C>T	c.(1261-1263)taC>taT	p.Y421Y	IGF1R_ENST00000558762.1_Silent_p.Y421Y	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	421					axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)	p.Y421Y(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""""""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	ACTCCTTCTACGTCCTCGACA	0.507													C|||	1	0.000199681	0.0	0.0014	5008	,	,		22331	0.0		0.0	False		,,,				2504	0.0				p.Y421Y		.											.	IGF1R	1490	1	Substitution - coding silent(1)	large_intestine(1)	c.C1263T						.						107.0	91.0	96.0					15																	99451929		2197	4297	6494	SO:0001819	synonymous_variant	3480	exon6			CTTCTACGTCCTC	M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"""CD molecules"", ""Fibronectin type III domain containing"""	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.1263C>T	15.37:g.99451929C>T		195.0	0.0		190.0	15.0	NM_000875	B1B5Y2|Q14CV2|Q9UCC0	Silent	SNP	ENST00000268035.6	37	CCDS10378.1																																																																																			.		0.507	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875	
IGFN1	91156	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	201186436	201186436	+	Missense_Mutation	SNP	C	C	T	rs370350044		TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr1:201186436C>T	ENST00000335211.4	+	17	9747	c.9617C>T	c.(9616-9618)gCg>gTg	p.A3206V	IGFN1_ENST00000295591.8_Missense_Mutation_p.A366V	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	749						nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GCCCCTTCCGCGCCAGCCATC	0.677																																					p.A3206V		.											.	IGFN1	71	0			c.C9617T						.	C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	44.0	47.0	46.0		9617	0.6	0.0	1		46	1,8599	1.2+/-3.3	0,1,4299	no	missense	IGFN1	NM_001164586.1	64	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	3206/3709	201186436	2,13004	2203	4300	6503	SO:0001583	missense	91156	exon17			CTTCCGCGCCAGC	AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.9617C>T	1.37:g.201186436C>T	ENSP00000334714:p.Ala3206Val	88.0	0.0		97.0	12.0	NM_001164586	F8WAI1|Q9NT72	Missense_Mutation	SNP	ENST00000335211.4	37	CCDS53455.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.434203	0.83776	2.27E-4	1.16E-4	ENSG00000163395	ENST00000335211;ENST00000295591	T;T	0.58060	0.36;0.36	4.68	0.549	0.17213	.	0.581976	0.16008	N	0.233933	T	0.59810	0.2221	M	0.73962	2.25	0.09310	N	1	D	0.60575	0.988	P	0.57057	0.812	T	0.50955	-0.8766	10	0.52906	T	0.07	.	4.7804	0.13199	0.1433:0.5018:0.2771:0.0778	.	3206	F8WAI1	.	V	3206;366	ENSP00000334714:A3206V;ENSP00000295591:A366V	ENSP00000295591:A366V	A	+	2	0	IGFN1	199453059	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	1.270000	0.33086	-0.173000	0.10761	-0.215000	0.12644	GCG	.		0.677	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178275	
IGSF10	285313	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	151161336	151161336	+	Missense_Mutation	SNP	G	G	T	rs367812916	byFrequency	TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr3:151161336G>T	ENST00000282466.3	-	5	5398	c.5399C>A	c.(5398-5400)aCg>aAg	p.T1800K	IGSF10_ENST00000495443.1_5'Flank	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1800	Ig-like C2-type 4.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TCCGTCAACCGTCACCACAGC	0.507																																					p.T1800K		.											.	IGSF10	102	0			c.C5399A						.						101.0	89.0	93.0					3																	151161336		2203	4300	6503	SO:0001583	missense	285313	exon5			TCAACCGTCACCA	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.5399C>A	3.37:g.151161336G>T	ENSP00000282466:p.Thr1800Lys	357.0	0.0		348.0	58.0	NM_178822	Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.481930	0.00163	.	.	ENSG00000152580	ENST00000282466;ENST00000544042	T	0.66815	-0.23	5.26	3.29	0.37713	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.135403	0.32769	N	0.005673	T	0.44561	0.1299	N	0.24115	0.695	0.26731	N	0.970595	B	0.12013	0.005	B	0.19946	0.027	T	0.18808	-1.0325	9	.	.	.	.	2.5263	0.04692	0.1013:0.1253:0.3843:0.3892	.	1800	Q6WRI0	IGS10_HUMAN	K	1800;427	ENSP00000282466:T1800K	.	T	-	2	0	IGSF10	152644026	0.074000	0.21230	0.366000	0.25914	0.026000	0.11368	2.357000	0.44125	0.558000	0.29135	-0.186000	0.12905	ACG	.		0.507	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822	
IGSF9	57549	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	1	159901621	159901621	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr1:159901621G>A	ENST00000368094.1	-	11	1540	c.1343C>T	c.(1342-1344)cCt>cTt	p.P448L	IGSF9_ENST00000493195.1_5'UTR|IGSF9_ENST00000361509.3_Missense_Mutation_p.P432L	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	448	Ig-like 5.				dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			AGAGACAACAGGAGGAGGGTC	0.612																																					p.P448L		.											.	IGSF9	156	0			c.C1343T						.						49.0	55.0	53.0					1																	159901621		2203	4300	6503	SO:0001583	missense	57549	exon11			ACAACAGGAGGAG	AB037776	CCDS1190.1, CCDS44254.1	1q22-q23	2013-02-11			ENSG00000085552	ENSG00000085552		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	18132	protein-coding gene	gene with protein product		609738				11991715	Standard	NM_020789		Approved	KIAA1355, Nrt1, IGSF9A	uc001fur.2	Q9P2J2	OTTHUMG00000022794	ENST00000368094.1:c.1343C>T	1.37:g.159901621G>A	ENSP00000357073:p.Pro448Leu	50.0	0.0		113.0	9.0	NM_001135050		Missense_Mutation	SNP	ENST00000368094.1	37	CCDS44254.1	.	.	.	.	.	.	.	.	.	.	G	14.90	2.674034	0.47781	.	.	ENSG00000085552	ENST00000361509;ENST00000368094;ENST00000198587	T;T	0.71461	-0.57;-0.57	4.41	4.41	0.53225	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.190730	0.25780	N	0.028343	D	0.85526	0.5717	M	0.93328	3.405	0.58432	D	0.999999	D;D	0.89917	0.992;1.0	D;D	0.83275	0.937;0.996	D	0.89524	0.3780	9	.	.	.	-2.2744	14.5219	0.67856	0.0:0.0:1.0:0.0	.	448;448	Q9P2J2;C9JI81	TUTLA_HUMAN;.	L	432;448;448	ENSP00000355049:P432L;ENSP00000357073:P448L	.	P	-	2	0	IGSF9	158168245	1.000000	0.71417	0.366000	0.25914	0.078000	0.17371	8.951000	0.93025	2.003000	0.58678	0.561000	0.74099	CCT	.		0.612	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059115.1	NM_020789	
IKZF2	22807	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	213872617	213872617	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr2:213872617C>G	ENST00000434687.1	-	9	1357	c.1048G>C	c.(1048-1050)Gtt>Ctt	p.V350L	IKZF2_ENST00000413091.3_3'UTR|AC079610.1_ENST00000415387.1_RNA|IKZF2_ENST00000451136.2_Missense_Mutation_p.V278L|IKZF2_ENST00000342002.2_Missense_Mutation_p.V356L|IKZF2_ENST00000457361.1_Missense_Mutation_p.V350L|IKZF2_ENST00000374327.4_Missense_Mutation_p.V205L|IKZF2_ENST00000374319.4_Missense_Mutation_p.V324L|IKZF2_ENST00000421754.2_Missense_Mutation_p.V276L			Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	350					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		GAGCTTATAACTGGGGCCACT	0.493																																					p.V350L		.											.	IKZF2	226	0			c.G1048C						.						93.0	85.0	88.0					2																	213872617		2203	4300	6503	SO:0001583	missense	22807	exon8			TTATAACTGGGGC	AF130863	CCDS2395.1, CCDS46507.1	2q13.1	2013-01-08	2006-08-25	2006-08-25	ENSG00000030419	ENSG00000030419		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13177	protein-coding gene	gene with protein product		606234	"""zinc finger protein, subfamily 1A, 2 (Helios)"""	ZNFN1A2		9512513, 9560339	Standard	NM_001079526		Approved	Helios	uc002vem.3	Q9UKS7	OTTHUMG00000133005	ENST00000434687.1:c.1048G>C	2.37:g.213872617C>G	ENSP00000412869:p.Val350Leu	155.0	0.0		193.0	41.0	NM_016260	Q53YJ5|Q6PQC5|Q6PQC6|Q6PQC7|Q6PQC8|Q6PQD0|Q6PQD1|Q8N6S1	Missense_Mutation	SNP	ENST00000434687.1	37	CCDS2395.1	.	.	.	.	.	.	.	.	.	.	C	13.38	2.221082	0.39201	.	.	ENSG00000030419	ENST00000457361;ENST00000342002;ENST00000434687;ENST00000374319;ENST00000451136;ENST00000421754;ENST00000374327;ENST00000542010	T;T;T;T;T;T;T	0.15603	3.17;3.14;3.17;3.21;3.08;3.22;2.41	6.08	6.08	0.98989	.	0.078533	0.53938	D	0.000052	T	0.34542	0.0901	M	0.77820	2.39	0.80722	D	1	B;P;P;P;P;P	0.48162	0.27;0.717;0.899;0.906;0.803;0.73	B;B;B;P;B;B	0.48571	0.095;0.243;0.419;0.582;0.17;0.205	T	0.03673	-1.1014	10	0.59425	D	0.04	-7.3459	18.844	0.92196	0.0:1.0:0.0:0.0	.	278;276;205;324;350;128	C9JCG7;C9JTM9;F5H8M1;Q9UKS7-2;Q9UKS7;Q96LD7	.;.;.;.;IKZF2_HUMAN;.	L	350;356;350;324;278;276;205;54	ENSP00000410447:V350L;ENSP00000342876:V356L;ENSP00000412869:V350L;ENSP00000363439:V324L;ENSP00000395203:V278L;ENSP00000399574:V276L;ENSP00000363447:V205L	ENSP00000342876:V356L	V	-	1	0	IKZF2	213580862	0.911000	0.30947	1.000000	0.80357	0.990000	0.78478	1.802000	0.38853	2.894000	0.99253	0.655000	0.94253	GTT	.		0.493	IKZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256593.3	NM_016260	
IL12RB1	3594	broad.mit.edu;bcgsc.ca;mdanderson.org	37	19	18183075	18183075	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	A	A	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr19:18183075A>G	ENST00000600835.2	-	10	1166	c.868T>C	c.(868-870)Tcc>Ccc	p.S290P	IL12RB1_ENST00000322153.7_Missense_Mutation_p.S290P|IL12RB1_ENST00000593993.2_Missense_Mutation_p.S290P			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	290	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-23-mediated signaling pathway (GO:0038155)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|interleukin-12 receptor complex (GO:0042022)|interleukin-23 receptor complex (GO:0072536)	cytokine receptor activity (GO:0004896)			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						CACGGGCAGGACAGCATGTGG	0.602																																					p.S290P		.											.	IL12RB1	91	0			c.T868C						.						90.0	69.0	76.0					19																	18183075		2203	4300	6503	SO:0001583	missense	3594	exon9			GGCAGGACAGCAT	U03187	CCDS32957.1, CCDS54232.1	19p13.1	2014-09-17						"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	5971	protein-coding gene	gene with protein product		601604		IL12RB		9284929	Standard	XM_005259893		Approved	CD212	uc002nhw.1	P42701		ENST00000600835.2:c.868T>C	19.37:g.18183075A>G	ENSP00000470788:p.Ser290Pro	200.0	1.0		181.0	18.0	NM_153701	A8K308|B2RPF1|B7ZKK3|Q8N6Q7	Missense_Mutation	SNP	ENST00000600835.2	37	CCDS54232.1	.	.	.	.	.	.	.	.	.	.	A	14.22	2.468957	0.43839	.	.	ENSG00000096996	ENST00000430026;ENST00000322153	T;T	0.58940	0.3;0.3	4.35	3.29	0.37713	.	0.133083	0.34580	N	0.003849	T	0.67683	0.2919	L	0.57536	1.79	0.29412	N	0.861172	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.72075	0.974;0.976;0.942	T	0.63501	-0.6623	10	0.72032	D	0.01	-13.9298	7.8924	0.29686	0.7895:0.2105:0.0:0.0	.	290;290;290	P42701-2;P42701-3;P42701	.;.;I12R1_HUMAN	P	290	ENSP00000403103:S290P;ENSP00000314425:S290P	ENSP00000314425:S290P	S	-	1	0	IL12RB1	18044075	1.000000	0.71417	0.999000	0.59377	0.267000	0.26476	1.559000	0.36320	0.596000	0.29794	0.402000	0.26972	TCC	.		0.602	IL12RB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466525.3		
IL1RL1	9173	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	102968228	102968228	+	Silent	SNP	A	A	G			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr2:102968228A>G	ENST00000233954.1	+	11	1789	c.1518A>G	c.(1516-1518)gtA>gtG	p.V506V		NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	506	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of T-helper 1 type immune response (GO:0002826)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of macrophage activation (GO:0043032)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	cytokine receptor activity (GO:0004896)|interleukin-1 receptor activity (GO:0004908)|interleukin-33 receptor activity (GO:0002114)|receptor signaling protein activity (GO:0005057)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						TTATGAAAGTACAGGGGACCA	0.517																																					p.V506V		.											.	IL1RL1	517	0			c.A1518G						.						48.0	48.0	48.0					2																	102968228		2203	4300	6503	SO:0001819	synonymous_variant	9173	exon11			GAAAGTACAGGGG	D12764	CCDS2057.1, CCDS2058.1, CCDS74548.1	2q12	2013-01-29			ENSG00000115602	ENSG00000115602		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5998	protein-coding gene	gene with protein product	"""homolog of mouse growth stimulation-expressed"""	601203				1482686, 10191101, 16286016	Standard	NM_016232		Approved	ST2, FIT-1, ST2L, ST2V, DER4, T1, IL33R	uc002tbu.1	Q01638	OTTHUMG00000130782	ENST00000233954.1:c.1518A>G	2.37:g.102968228A>G		177.0	0.0		213.0	37.0	NM_016232	A8K6B3|B4E0I3|Q53TU7|Q8NEJ3|Q9ULV7|Q9UQ44	Silent	SNP	ENST00000233954.1	37	CCDS2057.1																																																																																			.		0.517	IL1RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253296.1	NM_016232	
INO80	54617	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	41337196	41337196	+	Missense_Mutation	SNP	T	T	A	rs115089447	byFrequency	TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr15:41337196T>A	ENST00000361937.3	-	24	3237	c.2813A>T	c.(2812-2814)gAg>gTg	p.E938V	INO80_ENST00000401393.3_Missense_Mutation_p.E938V			Q9ULG1	INO80_HUMAN	INO80 complex subunit	938	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CTGGTGGCTCTCCCCTTCTGG	0.502																																					p.E938V		.											.	INO80	72	0			c.A2813T						.						97.0	99.0	98.0					15																	41337196		2203	4300	6503	SO:0001583	missense	54617	exon24			TGGCTCTCCCCTT	AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"""INO80 complex subunits"""	26956	protein-coding gene	gene with protein product	"""INO80 complex subunit A"""	610169	"""INO80 complex homolog 1 (S. cerevisiae)"", ""INO80 homolog (S. cerevisiae)"""	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.2813A>T	15.37:g.41337196T>A	ENSP00000355205:p.Glu938Val	63.0	0.0		66.0	14.0	NM_017553	A6H8X4|Q9NTG6	Missense_Mutation	SNP	ENST00000361937.3	37	CCDS10071.1	.	.	.	.	.	.	.	.	.	.	T	13.84	2.358497	0.41801	.	.	ENSG00000128908	ENST00000361937;ENST00000401393	D;D	0.91464	-2.85;-2.85	4.95	1.29	0.21616	.	0.587060	0.19449	N	0.113990	T	0.78792	0.4339	N	0.14661	0.345	0.34448	D	0.700379	B	0.26445	0.149	B	0.21708	0.036	T	0.71761	-0.4495	10	0.38643	T	0.18	.	6.5731	0.22549	0.0:0.1395:0.1301:0.7304	.	938	Q9ULG1	INO80_HUMAN	V	938	ENSP00000355205:E938V;ENSP00000384686:E938V	ENSP00000355205:E938V	E	-	2	0	INO80	39124488	0.756000	0.28383	0.846000	0.33378	0.928000	0.56348	1.139000	0.31504	0.113000	0.18004	0.459000	0.35465	GAG	T|0.989;C|0.011		0.502	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252527.2	NM_017553	
INS-IGF2	723961	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	2170519	2170519	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr11:2170519T>A	ENST00000397270.1	-	3	302	c.244A>T	c.(244-246)Aca>Tca	p.T82S	IGF2-AS_ENST00000381363.4_RNA|IGF2-AS_ENST00000381361.3_RNA|INS-IGF2_ENST00000481781.1_5'UTR|IGF2_ENST00000300632.5_5'UTR|IGF2-AS_ENST00000445504.2_RNA	NM_001042376.2	NP_001035835.1	F8WCM5	INSR2_HUMAN	INS-IGF2 readthrough	82						extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	5		all_epithelial(84;0.00018)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.0832)|Lung(200;0.156)		GCCCTGGCTGTGGCGTCCAGA	0.587																																					p.T82S		.											.	INS-IGF2	22	0			c.A244T						.						75.0	85.0	82.0					11																	2170519		2036	4167	6203	SO:0001583	missense	723961	exon3			TGGCTGTGGCGTC	DQ104205	CCDS41598.1	11p15.5	2011-03-23			ENSG00000129965	ENSG00000129965			33527	other	readthrough						16531418	Standard	NM_001042376		Approved		uc001lvm.3	F8WCM5	OTTHUMG00000166213	ENST00000397270.1:c.244A>T	11.37:g.2170519T>A	ENSP00000380440:p.Thr82Ser	60.0	0.0		62.0	11.0	NM_001042376	Q1WM24	Missense_Mutation	SNP	ENST00000397270.1	37	CCDS41598.1	.	.	.	.	.	.	.	.	.	.	T	10.58	1.391123	0.25118	.	.	ENSG00000129965	ENST00000397270	D	0.95412	-3.7	3.26	-5.09	0.02920	.	0.526148	0.12594	U	0.455347	D	0.90304	0.6967	L	0.43152	1.355	0.09310	N	1	B	0.16396	0.017	B	0.16289	0.015	T	0.79254	-0.1879	10	0.72032	D	0.01	-6.1421	7.8832	0.29635	0.1511:0.0:0.6126:0.2362	.	82	F8WCM5	.	S	82	ENSP00000380440:T82S	ENSP00000348986:T82S	T	-	1	0	INS-IGF2	2127095	0.001000	0.12720	0.000000	0.03702	0.005000	0.04900	-1.544000	0.02192	-1.047000	0.03242	0.454000	0.30748	ACA	.		0.587	INS-IGF2-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000388404.1	NM_001042376.2	
IQGAP1	8826	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	15	91043276	91043276	+	Missense_Mutation	SNP	A	A	C			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr15:91043276A>C	ENST00000268182.5	+	38	5034	c.4910A>C	c.(4909-4911)gAt>gCt	p.D1637A	IQGAP1_ENST00000560738.1_Missense_Mutation_p.D1065A	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1637	C2.				cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			AAATTATTTGATAGAGCTAAA	0.368																																					p.D1637A		.											.	IQGAP1	950	0			c.A4910C						.						95.0	88.0	90.0					15																	91043276		2198	4298	6496	SO:0001583	missense	8826	exon38			TATTTGATAGAGC	D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"""RasGAP-like with IQ motifs"""	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.4910A>C	15.37:g.91043276A>C	ENSP00000268182:p.Asp1637Ala	76.0	0.0		69.0	5.0	NM_003870	A7MBM3	Missense_Mutation	SNP	ENST00000268182.5	37	CCDS10362.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.148846	0.78001	.	.	ENSG00000140575	ENST00000268182	T	0.03181	4.02	5.7	5.7	0.88788	.	0.051090	0.85682	D	0.000000	T	0.18509	0.0444	M	0.85197	2.74	0.80722	D	1	D;D	0.57899	0.981;0.961	P;P	0.60012	0.867;0.778	T	0.00346	-1.1800	10	0.72032	D	0.01	-22.2177	15.1546	0.72730	1.0:0.0:0.0:0.0	.	258;1637	B4DNP4;P46940	.;IQGA1_HUMAN	A	1637	ENSP00000268182:D1637A	ENSP00000268182:D1637A	D	+	2	0	IQGAP1	88844280	1.000000	0.71417	0.987000	0.45799	0.524000	0.34500	9.173000	0.94815	2.180000	0.69256	0.454000	0.30748	GAT	.		0.368	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1	NM_003870	
IQSEC3	440073	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	266236	266236	+	Silent	SNP	G	G	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr12:266236G>A	ENST00000538872.1	+	6	2317	c.2199G>A	c.(2197-2199)gaG>gaA	p.E733E	IQSEC3_ENST00000326261.4_Silent_p.E733E|IQSEC3_ENST00000382841.2_Silent_p.E430E			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	733	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		AGCTGGACGAGGCCCTGCGCA	0.637																																					p.E733E		.											.	IQSEC3	560	0			c.G2199A						.						46.0	38.0	41.0					12																	266236		2203	4300	6503	SO:0001819	synonymous_variant	440073	exon6			GGACGAGGCCCTG	AB029033	CCDS31725.1, CCDS53728.1	12p13.33	2014-03-18			ENSG00000120645	ENSG00000120645			29193	protein-coding gene	gene with protein product		612118				10470851	Standard	NM_001170738		Approved	KIAA1110, MGC30156	uc001qhw.2	Q9UPP2	OTTHUMG00000167975	ENST00000538872.1:c.2199G>A	12.37:g.266236G>A		193.0	1.0		215.0	60.0	NM_001170738	A6NIF2|A6NKV9|Q8TB43	Silent	SNP	ENST00000538872.1	37	CCDS53728.1																																																																																			.		0.637	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397382.3	XM_495902	
IRAK1	3654	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	153284220	153284220	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chrX:153284220C>T	ENST00000369980.3	-	5	726	c.559G>A	c.(559-561)Gtg>Atg	p.V187M	IRAK1_ENST00000393682.1_Missense_Mutation_p.V213M|IRAK1_ENST00000369974.2_Missense_Mutation_p.V187M|IRAK1_ENST00000477274.1_5'Flank|IRAK1_ENST00000429936.2_Missense_Mutation_p.V213M|MIR718_ENST00000390190.2_RNA|IRAK1_ENST00000393687.2_Missense_Mutation_p.V187M	NM_001025242.1|NM_001569.3	NP_001020413.1|NP_001560.2	P51617	IRAK1_HUMAN	interleukin-1 receptor-associated kinase 1	187	ProST region.				activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to hypoxia (GO:0071456)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to peptidoglycan (GO:0032494)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|interleukin-1 receptor complex (GO:0045323)|lipid particle (GO:0005811)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|NF-kappaB-inducing kinase activity (GO:0004704)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGGAGGGACACTGAGCTCTCT	0.637																																					p.V187M		.											.	IRAK1	1074	0			c.G559A						.						27.0	27.0	27.0					X																	153284220		2202	4294	6496	SO:0001583	missense	3654	exon5			GGGACACTGAGCT	L76191	CCDS14740.1, CCDS35443.1, CCDS35444.1	Xq28	2011-07-08			ENSG00000184216	ENSG00000184216			6112	protein-coding gene	gene with protein product		300283				9374458, 8599092	Standard	XM_005274668		Approved	IRAK, pelle	uc004fjs.1	P51617	OTTHUMG00000024228	ENST00000369980.3:c.559G>A	X.37:g.153284220C>T	ENSP00000358997:p.Val187Met	190.0	0.0		192.0	28.0	NM_001569	D3DWW3|D3DWW4|Q7Z5V4|Q96C06|Q96RL2	Missense_Mutation	SNP	ENST00000369980.3	37	CCDS14740.1	.	.	.	.	.	.	.	.	.	.	.	9.937	1.216444	0.22373	.	.	ENSG00000184216	ENST00000369980;ENST00000369974;ENST00000393682;ENST00000393687;ENST00000429936	T;T;T;T;T	0.74315	-0.83;-0.83;-0.79;-0.8;-0.82	3.82	-0.987	0.10249	Protein kinase-like domain (1);	1.564670	0.04105	N	0.313659	T	0.58293	0.2112	N	0.22421	0.69	0.09310	N	1	B;B;B	0.26081	0.141;0.049;0.081	B;B;B	0.21151	0.03;0.015;0.033	T	0.43147	-0.9409	10	0.38643	T	0.18	-0.1308	5.2916	0.15729	0.0:0.4002:0.3677:0.2321	.	187;187;187	P51617-4;P51617;P51617-2	.;IRAK1_HUMAN;.	M	187;187;213;187;213	ENSP00000358997:V187M;ENSP00000358991:V187M;ENSP00000377287:V213M;ENSP00000377291:V187M;ENSP00000392662:V213M	ENSP00000358990:V213M	V	-	1	0	IRAK1	152937414	0.000000	0.05858	0.000000	0.03702	0.068000	0.16541	-0.090000	0.11163	-0.126000	0.11682	0.529000	0.55759	GTG	.		0.637	IRAK1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061143.3		
ISM2	145501	broad.mit.edu;mdanderson.org	37	14	77948666	77948666	+	Splice_Site	SNP	G	G	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr14:77948666G>A	ENST00000342219.4	-	4	1028	c.972C>T	c.(970-972)taC>taT	p.Y324Y	ISM2_ENST00000412904.1_Splice_Site_p.Y243Y|ISM2_ENST00000493585.1_Intron|ISM2_ENST00000429906.1_Splice_Site_p.Y243Y|ISM2_ENST00000393684.3_Splice_Site_p.Y236Y	NM_199296.2	NP_954993.1	Q6H9L7	ISM2_HUMAN	isthmin 2	324						extracellular region (GO:0005576)				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						GGTGCTCACCGTAGCTGACAG	0.597																																					p.Y324Y		.											.	ISM2	91	0			c.C972T						.						81.0	80.0	81.0					14																	77948666		2203	4300	6503	SO:0001630	splice_region_variant	145501	exon4			CTCACCGTAGCTG	AK056709	CCDS9864.1, CCDS45143.1	14q24.3	2013-05-15	2013-05-15	2008-12-23	ENSG00000100593	ENSG00000100593			23176	protein-coding gene	gene with protein product	"""thrombospondin and AMOP containing isthmin-like 1"""	612684	"""thrombospondin, type I domain-containing 3"", ""thrombospondin, type I, domain containing 3"", ""isthmin 2 homolog (zebrafish)"""	THSD3		15194193	Standard	NM_199296		Approved	FLJ32147, TAIL1	uc001xtz.3	Q6H9L7	OTTHUMG00000158563	ENST00000342219.4:c.973+1C>T	14.37:g.77948666G>A		90.0	0.0		76.0	8.0	NM_199296	A8K6D5|O95432|Q495U5|Q68CN3|Q86TQ7|Q86TW3|Q86TW4|Q8N501|Q8NBL0	Silent	SNP	ENST00000342219.4	37	CCDS9864.1																																																																																			.		0.597	ISM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351309.1	NM_182509	Silent
ITGAX	3687	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	31390892	31390892	+	Silent	SNP	C	C	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr16:31390892C>T	ENST00000268296.4	+	24	2914	c.2793C>T	c.(2791-2793)caC>caT	p.H931H	ITGAX_ENST00000562522.1_Silent_p.H931H	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	931					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						TCTCCAGCCACGAACAATTCA	0.537																																					p.H931H		.											.	ITGAX	229	0			c.C2793T						.						45.0	31.0	36.0					16																	31390892		2189	4287	6476	SO:0001819	synonymous_variant	3687	exon24			CAGCCACGAACAA	BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"""CD molecules"", ""Complement system"", ""Integrins"""	6152	protein-coding gene	gene with protein product		151510	"""integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"""	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.2793C>T	16.37:g.31390892C>T		151.0	1.0		118.0	26.0	NM_000887	Q8IVA6	Silent	SNP	ENST00000268296.4	37	CCDS10711.1																																																																																			.		0.537	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887	
ITIH5	80760	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	7684011	7684011	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr10:7684011T>A	ENST00000256861.6	-	3	256	c.178A>T	c.(178-180)Atc>Ttc	p.I60F	ITIH5_ENST00000446830.2_5'UTR|ITIH5_ENST00000397145.2_Missense_Mutation_p.I60F|ITIH5_ENST00000434980.1_5'Flank|ITIH5_ENST00000397146.2_Missense_Mutation_p.I60F	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	60	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CGGGAAATGATGGTAGACTTC	0.443																																					p.I60F		.											.	ITIH5	92	0			c.A178T						.						136.0	126.0	129.0					10																	7684011		2203	4300	6503	SO:0001583	missense	80760	exon3			AAATGATGGTAGA			10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"""inter-alpha (globulin) inhibitor H5"""			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.178A>T	10.37:g.7684011T>A	ENSP00000256861:p.Ile60Phe	207.0	1.0		282.0	45.0	NM_001001851	Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	SNP	ENST00000256861.6	37		.	.	.	.	.	.	.	.	.	.	T	17.98	3.521381	0.64747	.	.	ENSG00000123243	ENST00000256861;ENST00000397146;ENST00000397145	T;T;T	0.33216	1.42;1.42;1.42	5.71	3.33	0.38152	Vault protein inter-alpha-trypsin (2);	0.241824	0.48286	D	0.000187	T	0.51534	0.1680	.	.	.	0.49798	D	0.999829	D;D	0.89917	1.0;1.0	D;D	0.79784	0.991;0.993	T	0.49351	-0.8949	9	0.87932	D	0	-22.3672	7.6253	0.28208	0.1261:0.0685:0.0:0.8054	.	60;60	G5E9D8;Q86UX2	.;ITIH5_HUMAN	F	60	ENSP00000256861:I60F;ENSP00000380333:I60F;ENSP00000380332:I60F	ENSP00000256861:I60F	I	-	1	0	ITIH5	7724017	1.000000	0.71417	0.943000	0.38184	0.633000	0.38033	2.562000	0.45914	0.414000	0.25790	0.379000	0.24179	ATC	.		0.443	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569	
ITIH6	347365	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	X	54823434	54823434	+	Silent	SNP	G	G	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chrX:54823434G>A	ENST00000218436.6	-	2	227	c.198C>T	c.(196-198)gcC>gcT	p.A66A		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	66	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										TGGCTTCATGGGCTTCAGCAT	0.463													G|||	1	0.000264901	0.0	0.0	3775	,	,		15237	0.0		0.0	False		,,,				2504	0.001				p.A66A		.											.	.	.	0			c.C198T						.						173.0	129.0	144.0					X																	54823434		2203	4300	6503	SO:0001819	synonymous_variant	347365	exon2			TTCATGGGCTTCA	AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"""inter-alpha (globulin) inhibitor H5-like"""	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.198C>T	X.37:g.54823434G>A		333.0	0.0		342.0	14.0	NM_198510	A6NN03	Silent	SNP	ENST00000218436.6	37	CCDS14361.1																																																																																			.		0.463	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510	
KCNH1	3756	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	1	211093070	211093070	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr1:211093070C>A	ENST00000271751.4	-	7	1401	c.1374G>T	c.(1372-1374)atG>atT	p.M458I	KCNH1_ENST00000367007.4_Missense_Mutation_p.M431I			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	458					myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TGAGGCTGGTCATTGTGAAAT	0.493																																					p.M458I		.											.	KCNH1	94	0			c.G1374T						.						162.0	155.0	157.0					1																	211093070		2203	4300	6503	SO:0001583	missense	3756	exon7			GCTGGTCATTGTG	AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.1374G>T	1.37:g.211093070C>A	ENSP00000271751:p.Met458Ile	247.0	0.0		460.0	23.0	NM_172362	B1AQ26|O76035|Q14CL3	Missense_Mutation	SNP	ENST00000271751.4	37	CCDS1496.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.735451	0.89482	.	.	ENSG00000143473	ENST00000271751;ENST00000367007	D;D	0.98249	-4.82;-4.82	5.7	5.7	0.88788	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97773	0.9269	L	0.33093	0.98	0.80722	D	1	P;P	0.47034	0.744;0.889	P;P	0.56042	0.626;0.79	D	0.98917	1.0782	10	0.72032	D	0.01	.	18.8226	0.92103	0.0:1.0:0.0:0.0	.	431;458	Q14CL3;O95259	.;KCNH1_HUMAN	I	458;431	ENSP00000271751:M458I;ENSP00000355974:M431I	ENSP00000271751:M458I	M	-	3	0	KCNH1	209159693	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.538000	0.82048	2.692000	0.91855	0.655000	0.94253	ATG	.		0.493	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	NM_002238	
KCNH7	90134	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	163361023	163361023	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr2:163361023G>T	ENST00000332142.5	-	6	1157	c.1058C>A	c.(1057-1059)tCt>tAt	p.S353Y	KCNH7_ENST00000328032.4_Missense_Mutation_p.S346Y|KCNH7_ENST00000477019.1_5'UTR	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	353					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	TTTATCTGAAGAAGGAGGTGA	0.373																																					p.S353Y	GBM(196;1492 2208 17507 24132 45496)	.											.	KCNH7	95	0			c.C1058A						.						192.0	189.0	190.0					2																	163361023		2203	4300	6503	SO:0001583	missense	90134	exon6			TCTGAAGAAGGAG	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.1058C>A	2.37:g.163361023G>T	ENSP00000331727:p.Ser353Tyr	178.0	0.0		228.0	47.0	NM_033272	Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	37	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.900958	0.92035	.	.	ENSG00000184611	ENST00000332142;ENST00000328032	D;D	0.88664	-2.41;-2.41	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.91212	0.7231	L	0.43152	1.355	0.80722	D	1	P;D	0.61697	0.942;0.99	P;P	0.59703	0.637;0.862	D	0.88900	0.3352	10	0.29301	T	0.29	.	19.775	0.96388	0.0:0.0:1.0:0.0	.	346;353	Q9NS40-2;Q9NS40	.;KCNH7_HUMAN	Y	353;346	ENSP00000331727:S353Y;ENSP00000333781:S346Y	ENSP00000333781:S346Y	S	-	2	0	KCNH7	163069269	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.531000	0.73820	2.741000	0.93983	0.585000	0.79938	TCT	.		0.373	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272	
KCNJ2	3759	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	68171825	68171825	+	Silent	SNP	C	C	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr17:68171825C>T	ENST00000243457.3	+	2	1028	c.645C>T	c.(643-645)ggC>ggT	p.G215G	KCNJ2_ENST00000535240.1_Silent_p.G215G	NM_000891.2	NP_000882.1	P63252	KCNJ2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	215					cardiac muscle cell action potential involved in contraction (GO:0086002)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|magnesium ion transport (GO:0015693)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of resting membrane potential (GO:0060075)|regulation of skeletal muscle contraction via regulation of action potential (GO:0014861)|relaxation of cardiac muscle (GO:0055119)|relaxation of skeletal muscle (GO:0090076)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of membrane (GO:0031224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					GGCGAGTGGGCAATCTTCGGA	0.478																																					p.G215G		.											.	KCNJ2	90	0			c.C645T						.						114.0	100.0	105.0					17																	68171825		2203	4300	6503	SO:0001819	synonymous_variant	3759	exon2			AGTGGGCAATCTT	AF011904	CCDS11688.1	17q24.3	2014-09-17				ENSG00000123700		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6263	protein-coding gene	gene with protein product		600681				7696590, 11240146, 16382105	Standard	NM_000891		Approved	Kir2.1, IRK1, LQT7	uc002jir.3	P63252		ENST00000243457.3:c.645C>T	17.37:g.68171825C>T		102.0	0.0		144.0	22.0	NM_000891	O15110|P48049	Silent	SNP	ENST00000243457.3	37	CCDS11688.1																																																																																			.		0.478	KCNJ2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450889.1	NM_000891	
KCNK13	56659	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	90651207	90651207	+	Silent	SNP	C	C	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr14:90651207C>T	ENST00000282146.4	+	2	1528	c.1087C>T	c.(1087-1089)Ctg>Ttg	p.L363L		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	363					synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				GTTGGCCATCCTGCAGAAGCA	0.617																																					p.L363L		.											.	KCNK13	91	0			c.C1087T						.						29.0	31.0	31.0					14																	90651207		2200	4299	6499	SO:0001819	synonymous_variant	56659	exon2			GCCATCCTGCAGA	AF287303	CCDS9889.1	14q32.11	2012-03-07				ENSG00000152315		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6275	protein-coding gene	gene with protein product		607367				11060316, 16382106	Standard	NM_022054		Approved	K2p13.1, THIK-1, THIK1	uc001xye.1	Q9HB14		ENST00000282146.4:c.1087C>T	14.37:g.90651207C>T		169.0	0.0		163.0	26.0	NM_022054	B5TJL8|Q96E79	Silent	SNP	ENST00000282146.4	37	CCDS9889.1																																																																																			.		0.617	KCNK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411251.1	NM_022054	
KCNS3	3790	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	18112349	18112349	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr2:18112349A>G	ENST00000403915.1	+	3	525	c.74A>G	c.(73-75)aAg>aGg	p.K25R	KCNS3_ENST00000465292.1_Intron|KCNS3_ENST00000304101.4_Missense_Mutation_p.K25R	NM_001282428.1	NP_001269357.1	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	25					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel regulator activity (GO:0015459)			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GGGGGCTTTAAGCAGTCTGTT	0.527																																					p.K25R		.											.	KCNS3	94	0			c.A74G						.						106.0	101.0	103.0					2																	18112349		2203	4300	6503	SO:0001583	missense	3790	exon3			GCTTTAAGCAGTC	AF043472	CCDS1692.1	2p24	2011-07-05			ENSG00000170745	ENSG00000170745		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6302	protein-coding gene	gene with protein product		603888				10484328, 16382104	Standard	NM_002252		Approved	Kv9.3	uc002rcw.3	Q9BQ31	OTTHUMG00000044150	ENST00000403915.1:c.74A>G	2.37:g.18112349A>G	ENSP00000385968:p.Lys25Arg	273.0	0.0		365.0	128.0	NM_002252	D6W520|O43651|Q4ZFY1|Q96B56	Missense_Mutation	SNP	ENST00000403915.1	37	CCDS1692.1	.	.	.	.	.	.	.	.	.	.	A	1.639	-0.516881	0.04200	.	.	ENSG00000170745	ENST00000403915;ENST00000304101;ENST00000419802	T;T;T	0.74632	1.14;1.14;-0.86	5.79	4.44	0.53790	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.159168	0.52532	D	0.000061	T	0.43700	0.1259	N	0.02111	-0.68	0.43394	D	0.995514	B	0.12630	0.006	B	0.15052	0.012	T	0.49808	-0.8900	10	0.02654	T	1	.	12.4181	0.55504	0.9242:0.0:0.0758:0.0	.	25	Q9BQ31	KCNS3_HUMAN	R	25	ENSP00000385968:K25R;ENSP00000305824:K25R;ENSP00000400098:K25R	ENSP00000305824:K25R	K	+	2	0	KCNS3	17975830	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.115000	0.71566	2.226000	0.72624	0.456000	0.33151	AAG	.		0.527	KCNS3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323808.1	NM_002252	
KCTD16	57528	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	143853260	143853260	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr5:143853260C>G	ENST00000507359.3	+	3	1961	c.870C>G	c.(868-870)tgC>tgG	p.C290W	KCTD16_ENST00000512467.1_Missense_Mutation_p.C290W	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16	290					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)				large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			ACTGCGATTGCTGCTGCAAGA	0.527																																					p.C290W		.											.	KCTD16	137	0			c.C870G						.						81.0	79.0	80.0					5																	143853260		2203	4300	6503	SO:0001583	missense	57528	exon4			CGATTGCTGCTGC	AB037738	CCDS34260.1	5q32	2013-06-20	2013-06-20		ENSG00000183775	ENSG00000183775			29244	protein-coding gene	gene with protein product		613423	"""potassium channel tetramerisation domain containing 16"""			10718198	Standard	NM_020768		Approved	KIAA1317	uc003lnm.1	Q68DU8	OTTHUMG00000163172	ENST00000507359.3:c.870C>G	5.37:g.143853260C>G	ENSP00000426548:p.Cys290Trp	323.0	0.0		356.0	54.0	NM_020768	Q9P2M9	Missense_Mutation	SNP	ENST00000507359.3	37	CCDS34260.1	.	.	.	.	.	.	.	.	.	.	C	14.03	2.412415	0.42817	.	.	ENSG00000183775	ENST00000512467;ENST00000507359	T;T	0.44083	0.93;0.93	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.27967	0.0689	N	0.08118	0	0.80722	D	1	P	0.45283	0.855	B	0.37780	0.258	T	0.26292	-1.0107	10	0.72032	D	0.01	.	20.04	0.97581	0.0:1.0:0.0:0.0	.	290	Q68DU8	KCD16_HUMAN	W	290	ENSP00000424151:C290W;ENSP00000426548:C290W	ENSP00000426548:C290W	C	+	3	2	KCTD16	143833453	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.758000	0.55220	2.733000	0.93635	0.655000	0.94253	TGC	.		0.527	KCTD16-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371898.3	XM_098368	
KCTD20	222658	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	36449534	36449534	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr6:36449534A>G	ENST00000373731.2	+	6	1245	c.854A>G	c.(853-855)cAa>cGa	p.Q285R	KCTD20_ENST00000544295.1_Missense_Mutation_p.Q39R|KCTD20_ENST00000449081.2_Missense_Mutation_p.Q119R|KCTD20_ENST00000536244.1_Missense_Mutation_p.Q140R|KCTD20_ENST00000474988.1_3'UTR	NM_173562.3	NP_775833.2	Q7Z5Y7	KCD20_HUMAN	potassium channel tetramerization domain containing 20	285					protein homooligomerization (GO:0051260)					central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|skin(1)	15						GAATATTCCCAAAGTAGGAGC	0.478																																					p.Q285R		.											.	KCTD20	92	0			c.A854G						.						78.0	73.0	75.0					6																	36449534		2203	4300	6503	SO:0001583	missense	222658	exon6			ATTCCCAAAGTAG	BC023525	CCDS4821.1, CCDS69096.1, CCDS69097.1	6p21.31	2013-06-20	2013-06-20	2006-06-26	ENSG00000112078	ENSG00000112078			21052	protein-coding gene	gene with protein product		615932	"""chromosome 6 open reading frame 69"", ""potassium channel tetramerisation domain containing 20"""	C6orf69			Standard	NM_001286580		Approved	dJ108K11.3, MGC14254	uc003ome.3	Q7Z5Y7	OTTHUMG00000014597	ENST00000373731.2:c.854A>G	6.37:g.36449534A>G	ENSP00000362836:p.Gln285Arg	101.0	0.0		170.0	23.0	NM_173562	B4DZD3|B4E2Q3|F5H3T3|Q5W105|Q69YQ7|Q8IZ55	Missense_Mutation	SNP	ENST00000373731.2	37	CCDS4821.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.018039	0.75275	.	.	ENSG00000112078	ENST00000373731;ENST00000544295;ENST00000449081;ENST00000536244	D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.88108	0.6348	M	0.61703	1.905	0.80722	D	1	D;D	0.67145	0.996;0.993	D;D	0.75484	0.986;0.968	D	0.88993	0.3416	10	0.62326	D	0.03	-19.6228	16.5764	0.84681	1.0:0.0:0.0:0.0	.	119;285	Q7Z5Y7-2;Q7Z5Y7	.;KCD20_HUMAN	R	285;39;119;140	ENSP00000362836:Q285R;ENSP00000440150:Q39R;ENSP00000412205:Q119R;ENSP00000439118:Q140R	ENSP00000362836:Q285R	Q	+	2	0	KCTD20	36557512	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.287000	0.95975	2.371000	0.80710	0.533000	0.62120	CAA	.		0.478	KCTD20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040345.2	NM_173562	
KIAA1244	57221	broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	138531046	138531046	+	Splice_Site	SNP	G	G	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr6:138531046G>A	ENST00000251691.4	+	4	385		c.e4-1			NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CCTCTTTACAGAAGCTTCTGT	0.453																																					.		.											.	KIAA1244	228	0			c.220-1G>A						.						137.0	132.0	133.0					6																	138531046		2203	4300	6503	SO:0001630	splice_region_variant	57221	exon4			TTTACAGAAGCTT	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.220-1G>A	6.37:g.138531046G>A		250.0	1.0		366.0	41.0	NM_020340		Splice_Site	SNP	ENST00000251691.4	37	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	G	25.7	4.669706	0.88348	.	.	ENSG00000112379	ENST00000251691	.	.	.	5.57	5.57	0.84162	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5405	0.95272	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIAA1244	138572739	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.056000	0.93881	2.608000	0.88229	0.555000	0.69702	.	.		0.453	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340	Intron
KIAA1244	57221	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	138655566	138655566	+	Silent	SNP	C	C	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr6:138655566C>T	ENST00000251691.4	+	33	5749	c.5583C>T	c.(5581-5583)gaC>gaT	p.D1861D		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		AGGATGAAGACATCTTTGAGG	0.562																																					p.D1861D		.											.	KIAA1244	228	0			c.C5583T						.						30.0	29.0	29.0					6																	138655566		2203	4300	6503	SO:0001819	synonymous_variant	57221	exon33			TGAAGACATCTTT	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.5583C>T	6.37:g.138655566C>T		79.0	0.0		106.0	11.0	NM_020340		Silent	SNP	ENST00000251691.4	37	CCDS5189.2																																																																																			.		0.562	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340	
KIAA1407	57577	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	113720448	113720448	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr3:113720448C>A	ENST00000295878.3	-	13	2303	c.2157G>T	c.(2155-2157)aaG>aaT	p.K719N	KIAA1407_ENST00000545063.1_3'UTR	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	719										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						TAACCATTTTCTTCAGTCTCT	0.448																																					p.K719N		.											.	KIAA1407	92	0			c.G2157T						.						267.0	246.0	253.0					3																	113720448		2203	4300	6503	SO:0001583	missense	57577	exon13			CATTTTCTTCAGT	AF509494	CCDS2977.1	3q13.31	2005-01-10			ENSG00000163617	ENSG00000163617			29272	protein-coding gene	gene with protein product						10718198	Standard	NM_020817		Approved		uc003eax.3	Q8NCU4	OTTHUMG00000159337	ENST00000295878.3:c.2157G>T	3.37:g.113720448C>A	ENSP00000295878:p.Lys719Asn	323.0	0.0		330.0	45.0	NM_020817	B4DYL1|Q9P2E0	Missense_Mutation	SNP	ENST00000295878.3	37	CCDS2977.1	.	.	.	.	.	.	.	.	.	.	C	13.24	2.179453	0.38511	.	.	ENSG00000163617	ENST00000295878	T	0.32988	1.43	5.19	4.32	0.51571	.	0.424673	0.27841	N	0.017626	T	0.37625	0.1010	M	0.63428	1.95	0.80722	D	1	D	0.53462	0.96	P	0.50537	0.643	T	0.19224	-1.0312	10	0.51188	T	0.08	.	8.1568	0.31173	0.0:0.8225:0.0:0.1775	.	719	Q8NCU4	K1407_HUMAN	N	719	ENSP00000295878:K719N	ENSP00000295878:K719N	K	-	3	2	KIAA1407	115203138	1.000000	0.71417	0.999000	0.59377	0.944000	0.59088	1.561000	0.36342	1.557000	0.49525	0.650000	0.86243	AAG	.		0.448	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354724.2	NM_020817	
KIF7	374654	broad.mit.edu;mdanderson.org	37	15	90193163	90193163	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	A	A	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr15:90193163A>G	ENST00000394412.3	-	3	414	c.338T>C	c.(337-339)cTt>cCt	p.L113P		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	113	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|kinesin complex (GO:0005871)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			CTCATCCTCAAGGAGGGAGGC	0.637																																					p.L113P		.											.	KIF7	523	0			c.T338C						.						40.0	39.0	40.0					15																	90193163		689	1590	2279	SO:0001583	missense	374654	exon3			TCCTCAAGGAGGG	AY358384	CCDS32325.2	15q26.1	2011-06-02			ENSG00000166813	ENSG00000166813		"""Kinesins"""	30497	protein-coding gene	gene with protein product		611254				11416179, 15547730	Standard	NM_198525		Approved	JBTS12	uc002bof.2	Q2M1P5	OTTHUMG00000157177	ENST00000394412.3:c.338T>C	15.37:g.90193163A>G	ENSP00000377934:p.Leu113Pro	51.0	1.0		38.0	7.0	NM_198525	Q3SXY0|Q6UXE9|Q8IW72	Missense_Mutation	SNP	ENST00000394412.3	37	CCDS32325.2	.	.	.	.	.	.	.	.	.	.	A	10.57	1.387572	0.25031	.	.	ENSG00000166813	ENST00000394412	T	0.71579	-0.58	5.33	1.68	0.24146	Kinesin, motor domain (4);	.	.	.	.	T	0.51568	0.1682	N	0.21240	0.645	0.09310	N	1	B	0.30937	0.301	B	0.34590	0.186	T	0.39881	-0.9592	9	0.30854	T	0.27	.	1.9039	0.03273	0.1355:0.1455:0.131:0.588	.	113	Q2M1P5	KIF7_HUMAN	P	113	ENSP00000377934:L113P	ENSP00000377934:L113P	L	-	2	0	KIF7	87994167	0.439000	0.25610	0.293000	0.24932	0.926000	0.56050	0.875000	0.28079	0.027000	0.15297	-0.339000	0.08088	CTT	.		0.637	KIF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347782.1	NM_198525	
KLF12	11278	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	13	74387348	74387348	+	Silent	SNP	G	G	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr13:74387348G>T	ENST00000377669.2	-	4	773	c.747C>A	c.(745-747)acC>acA	p.T249T	KLF12_ENST00000377666.4_Silent_p.T249T|KLF12_ENST00000472022.1_5'UTR	NM_007249.4	NP_009180.3	Q9Y4X4	KLF12_HUMAN	Kruppel-like factor 12	249					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16		Prostate(6;0.00217)|Breast(118;0.0838)		GBM - Glioblastoma multiforme(99;0.00677)		CGCTATCTAAGGTCACATTTG	0.433																																					p.T249T		.											.	KLF12	91	0			c.C747A						.						239.0	205.0	216.0					13																	74387348		2203	4300	6503	SO:0001819	synonymous_variant	11278	exon5			ATCTAAGGTCACA	AJ243274	CCDS9449.1	13q22	2013-01-08			ENSG00000118922	ENSG00000118922		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6346	protein-coding gene	gene with protein product	"""KLF12 zinc finger transcriptional repressor"", ""AP-2rep transcription factor"", ""AP-2 repressor"""	607531				10704285	Standard	NM_007249		Approved	AP-2rep, HSPC122, AP2REP	uc001vjf.3	Q9Y4X4	OTTHUMG00000017078	ENST00000377669.2:c.747C>A	13.37:g.74387348G>T		222.0	0.0		170.0	38.0	NM_007249	A8K5T2|L0R3J4|Q5VZM7|Q9UHZ0	Silent	SNP	ENST00000377669.2	37	CCDS9449.1																																																																																			.		0.433	KLF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045271.2	NM_007249	
KLHL29	114818	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	23918908	23918908	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr2:23918908C>T	ENST00000486442.1	+	10	2546	c.1829C>T	c.(1828-1830)cCg>cTg	p.P610L		NM_052920.1	NP_443152.1	Q96CT2	KLH29_HUMAN	kelch-like family member 29	610										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|lung(1)|ovary(3)	10						TGCTGGAACCCGCAGAACAAC	0.602																																					p.P610L		.											.	KLHL29	70	0			c.C1829T						.						85.0	84.0	84.0					2																	23918908		692	1591	2283	SO:0001583	missense	114818	exon10			GGAACCCGCAGAA		CCDS54335.1	2p23.3	2013-09-27	2013-02-22	2007-01-09	ENSG00000119771	ENSG00000119771		"""Kelch-like"", ""BTB/POZ domain containing"""	29404	protein-coding gene	gene with protein product			"""kelch repeat and BTB (POZ) domain containing 9"", ""kelch-like 29 (Drosophila)"""	KBTBD9		11572484	Standard	NM_052920		Approved	KIAA1921	uc010ykg.2	Q96CT2	OTTHUMG00000151899	ENST00000486442.1:c.1829C>T	2.37:g.23918908C>T	ENSP00000420659:p.Pro610Leu	135.0	0.0		118.0	34.0	NM_052920	Q8N388|Q96BF0|Q96PW7	Missense_Mutation	SNP	ENST00000486442.1	37	CCDS54335.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.5|21.5	4.152174|4.152174	0.78001|0.78001	.|.	.|.	ENSG00000119771|ENSG00000119771	ENST00000486442|ENST00000288548	T|.	0.69435|.	-0.4|.	4.43|4.43	3.55|3.55	0.40652|0.40652	Galactose oxidase, beta-propeller (1);|.	0.053759|.	0.85682|.	N|.	0.000000|.	T|T	0.68229|0.68229	0.2978|0.2978	M|M	0.63428|0.63428	1.95|1.95	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.957;1.0|.	B;D|.	0.68483|.	0.305;0.958|.	T|T	0.66444|0.66444	-0.5922|-0.5922	10|5	0.25106|.	T|.	0.35|.	.|.	12.3592|12.3592	0.55192|0.55192	0.0:0.9174:0.0:0.0826|0.0:0.9174:0.0:0.0826	.|.	390;390|.	Q96CT2;Q96CT2-2|.	KLH29_HUMAN;.|.	L|C	610|450	ENSP00000420659:P610L|.	ENSP00000420659:P610L|.	P|R	+|+	2|1	0|0	KLHL29|KLHL29	23772413|23772413	1.000000|1.000000	0.71417|0.71417	0.951000|0.951000	0.38953|0.38953	0.995000|0.995000	0.86356|0.86356	7.814000|7.814000	0.86154|0.86154	0.984000|0.984000	0.38629|0.38629	0.561000|0.561000	0.74099|0.74099	CCG|CGC	.		0.602	KLHL29-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324315.3	NM_052920	
KLK9	284366	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	51506441	51506441	+	Silent	SNP	T	T	G			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr19:51506441T>G	ENST00000594211.1	-	5	679	c.679A>C	c.(679-681)Aga>Cga	p.R227R	KLK9_ENST00000376832.4_Silent_p.R227R|KLK8_ENST00000291726.7_5'Flank|KLK8_ENST00000320838.5_5'Flank|KLK9_ENST00000250366.6_Silent_p.R227R|KLK8_ENST00000593490.1_5'Flank|KLK8_ENST00000347619.4_5'Flank|CTB-147C22.9_ENST00000594512.1_RNA|KLK8_ENST00000600767.1_5'Flank|KLK8_ENST00000391806.2_5'Flank			Q9UKQ9	KLK9_HUMAN	kallikrein-related peptidase 9	227	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7		all_neural(266;0.0652)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)		CGCCGGGGTCTGGAGCAGGGC	0.642																																					p.R227R		.											.	KLK9	226	0			c.A679C						.						62.0	67.0	65.0					19																	51506441		2203	4300	6503	SO:0001819	synonymous_variant	284366	exon5			GGGGTCTGGAGCA	AF135026	CCDS12816.1	19q13.33	2008-02-05	2006-10-27					"""Kallikreins"""	6370	protein-coding gene	gene with protein product		605504	"""kallikrein 9"""			16800724, 16800723	Standard	NM_012315		Approved	KLK-L3	uc002pux.1	Q9UKQ9		ENST00000594211.1:c.679A>C	19.37:g.51506441T>G		65.0	0.0		79.0	9.0	NM_012315	Q6QA55	Silent	SNP	ENST00000594211.1	37	CCDS12816.1																																																																																			.		0.642	KLK9-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465226.1	NM_012315	
KNDC1	85442	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	135038187	135038187	+	Silent	SNP	G	G	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr10:135038187G>A	ENST00000304613.3	+	30	5064	c.5043G>A	c.(5041-5043)caG>caA	p.Q1681Q	KNDC1_ENST00000368572.2_Silent_p.Q1683Q			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1681	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		TGGTGAGCCAGGTGCACGCGT	0.612																																					p.Q1681Q		.											.	KNDC1	229	0			c.G5043A						.						86.0	70.0	75.0					10																	135038187		2203	4300	6503	SO:0001819	synonymous_variant	85442	exon30			GAGCCAGGTGCAC	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"""RasGEF domain family, member 2"""	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.5043G>A	10.37:g.135038187G>A		207.0	0.0		307.0	37.0	NM_152643	B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Silent	SNP	ENST00000304613.3	37	CCDS7674.1																																																																																			.		0.612	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643	
KRT27	342574	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	17	38938637	38938637	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr17:38938637C>T	ENST00000301656.3	-	1	149	c.109G>A	c.(109-111)Ggt>Agt	p.G37S		NM_181537.3	NP_853515.2			keratin 27											NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				CCTGGCACACCGCATGTGTTT	0.607																																					p.G37S		.											.	KRT27	90	0			c.G109A						.						64.0	59.0	61.0					17																	38938637		2203	4300	6503	SO:0001583	missense	342574	exon1			GCACACCGCATGT	AJ564206	CCDS11375.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000171446	ENSG00000171446		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30841	protein-coding gene	gene with protein product			"""keratin 25C"""	KRT25C		16831889	Standard	NM_181537		Approved		uc002hvg.3	Q7Z3Y8	OTTHUMG00000133371	ENST00000301656.3:c.109G>A	17.37:g.38938637C>T	ENSP00000301656:p.Gly37Ser	117.0	0.0		145.0	13.0	NM_181537		Missense_Mutation	SNP	ENST00000301656.3	37	CCDS11375.1	.	.	.	.	.	.	.	.	.	.	C	10.80	1.451376	0.26074	.	.	ENSG00000171446	ENST00000301656	D	0.85013	-1.93	4.92	-3.33	0.04958	.	0.845034	0.10518	N	0.665346	T	0.72684	0.3491	L	0.34521	1.04	0.18873	N	0.999985	B	0.09022	0.002	B	0.06405	0.002	T	0.55250	-0.8170	10	0.17832	T	0.49	.	9.2104	0.37316	0.0:0.5159:0.0968:0.3874	.	37	Q7Z3Y8	K1C27_HUMAN	S	37	ENSP00000301656:G37S	ENSP00000301656:G37S	G	-	1	0	KRT27	36192163	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.477000	0.06583	-0.383000	0.07858	-1.063000	0.02288	GGT	.		0.607	KRT27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257216.1	NM_181537	
KPNA2	3838	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	66040550	66040550	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr17:66040550G>T	ENST00000537025.2	+	9	1898	c.1278G>T	c.(1276-1278)atG>atT	p.M426I	KPNA2_ENST00000330459.3_Missense_Mutation_p.M426I			P52292	IMA1_HUMAN	karyopherin alpha 2 (RAG cohort 1, importin alpha 1)	426					cytokine-mediated signaling pathway (GO:0019221)|DNA metabolic process (GO:0006259)|NLS-bearing protein import into nucleus (GO:0006607)|regulation of DNA recombination (GO:0000018)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone deacetylase binding (GO:0042826)|nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|kidney(2)|lung(9)|prostate(1)|urinary_tract(2)	22	all_cancers(12;1.18e-09)		BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			AACCGTTGATGAACCTCTTAA	0.413																																					p.M426I		.											.	KPNA2	560	0			c.G1278T						.						259.0	260.0	260.0					17																	66040550		2203	4296	6499	SO:0001583	missense	3838	exon9			GTTGATGAACCTC	U09559	CCDS32713.1	17q24.2	2013-02-14						"""Importins"", ""Armadillo repeat containing"""	6395	protein-coding gene	gene with protein product		600685		RCH1		8016130, 7754385	Standard	NM_002266		Approved	SRP1alpha, IPOA1, QIP2	uc002jgk.3	P52292		ENST00000537025.2:c.1278G>T	17.37:g.66040550G>T	ENSP00000438483:p.Met426Ile	188.0	1.0		247.0	30.0	NM_002266	B9EJD6|Q53YE3|Q9BRU5	Missense_Mutation	SNP	ENST00000537025.2	37	CCDS32713.1	.	.	.	.	.	.	.	.	.	.	g	14.13	2.444200	0.43429	.	.	ENSG00000182481	ENST00000330459;ENST00000537025	T;T	0.65732	-0.17;-0.17	5.35	4.36	0.52297	Armadillo-like helical (1);Armadillo-type fold (1);	0.288125	0.31721	U	0.007167	T	0.35364	0.0929	N	0.02247	-0.625	0.40972	D	0.984706	B	0.02656	0.0	B	0.01281	0.0	T	0.32981	-0.9886	10	0.62326	D	0.03	.	10.5477	0.45070	0.0804:0.1708:0.7489:0.0	.	426	P52292	IMA2_HUMAN	I	426	ENSP00000332455:M426I;ENSP00000438483:M426I	ENSP00000332455:M426I	M	+	3	0	KPNA2	63471012	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.198000	0.32223	2.518000	0.84900	0.444000	0.29173	ATG	.		0.413	KPNA2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448111.1	NM_002266	
KRTAP5-3	387266	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	1629511	1629511	+	Silent	SNP	G	G	A	rs371318576		TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr11:1629511G>A	ENST00000399685.1	-	1	182	c.105C>T	c.(103-105)tgC>tgT	p.C35C		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	35	11 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		CAGGTACACAGCAGCCGGAGC	0.677																																					p.C35C		.											.	KRTAP5-3	92	0			c.C105T						.	G		1,4397		0,1,2198	59.0	77.0	71.0		105	1.4	1.0	11		71	0,8590		0,0,4295	no	coding-synonymous	KRTAP5-3	NM_001012708.2		0,1,6493	AA,AG,GG		0.0,0.0227,0.0077		35/239	1629511	1,12987	2199	4295	6494	SO:0001819	synonymous_variant	387266	exon1			TACACAGCAGCCG	AB126072	CCDS41591.1	11p15.5	2008-02-05			ENSG00000196224	ENSG00000196224		"""Keratin associated proteins"""	23598	protein-coding gene	gene with protein product						15144888	Standard	NM_001012708		Approved	KRTAP5.3, KRTAP5-9	uc001ltw.1	Q6L8H2	OTTHUMG00000057559	ENST00000399685.1:c.105C>T	11.37:g.1629511G>A		49.0	0.0		42.0	10.0	NM_001012708	Q6PL44|Q701N3	Silent	SNP	ENST00000399685.1	37	CCDS41591.1																																																																																			.		0.677	KRTAP5-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127924.1		
LEPR	3953	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	66102182	66102182	+	Silent	SNP	A	A	G			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr1:66102182A>G	ENST00000349533.6	+	20	3167	c.2982A>G	c.(2980-2982)aaA>aaG	p.K994K	LEPR_ENST00000406510.3_Silent_p.K61K	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		GCAACTCTAAACCAAGTGAAA	0.428																																					p.K994K		.											.	LEPR	91	0			c.A2982G						.						66.0	64.0	65.0					1																	66102182		2203	4300	6503	SO:0001819	synonymous_variant	3953	exon20			CTCTAAACCAAGT	U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.2982A>G	1.37:g.66102182A>G		56.0	0.0		36.0	7.0	NM_002303	Q6FHL5	Silent	SNP	ENST00000349533.6	37	CCDS631.1																																																																																			.		0.428	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	NM_002303	
LCE1B	353132	hgsc.bcm.edu;broad.mit.edu	37	1	152785131	152785131	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr1:152785131C>T	ENST00000360090.3	+	1	685	c.209C>T	c.(208-210)tCt>tTt	p.S70F		NM_178349.1	NP_848126.1	Q5T7P3	LCE1B_HUMAN	late cornified envelope 1B	70	Gly-rich.				keratinization (GO:0031424)					breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|skin(2)	18	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGCTGCAGTTCTGGGGGAGGT	0.677																																					p.S70F		.											.	LCE1B	68	0			c.C209T						.						44.0	52.0	49.0					1																	152785131		2203	4300	6503	SO:0001583	missense	353132	exon1			GCAGTTCTGGGGG	BI670515	CCDS1027.1	1q21.3	2008-02-05	2004-10-11	2004-10-15	ENSG00000196734	ENSG00000196734		"""Late cornified envelopes"""	16611	protein-coding gene	gene with protein product		612604	"""small proline rich-like (epidermal differentiation complex) 2A"""	SPRL2A		11698679	Standard	NM_178349		Approved	LEP2	uc001faq.3	Q5T7P3	OTTHUMG00000014402	ENST00000360090.3:c.209C>T	1.37:g.152785131C>T	ENSP00000353203:p.Ser70Phe	72.0	0.0		98.0	4.0	NM_178349	A4IF40	Missense_Mutation	SNP	ENST00000360090.3	37	CCDS1027.1	.	.	.	.	.	.	.	.	.	.	C	7.359	0.624493	0.14193	.	.	ENSG00000196734	ENST00000360090;ENST00000439693	T	0.06294	3.32	4.35	4.35	0.52113	.	0.000000	0.36519	N	0.002551	T	0.17704	0.0425	M	0.87180	2.865	0.27475	N	0.952748	D	0.76494	0.999	D	0.83275	0.996	T	0.01925	-1.1246	10	0.87932	D	0	.	12.2361	0.54516	0.0:1.0:0.0:0.0	.	70	Q5T7P3	LCE1B_HUMAN	F	70;62	ENSP00000353203:S70F	ENSP00000353203:S70F	S	+	2	0	LCE1B	151051755	1.000000	0.71417	1.000000	0.80357	0.271000	0.26615	1.683000	0.37638	2.256000	0.74724	0.650000	0.86243	TCT	.		0.677	LCE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040060.1	NM_178349	
TRIM46	80128	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	1	155145067	155145067	+	5'Flank	SNP	C	C	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr1:155145067C>A	ENST00000334634.4	+	0	0				KRTCAP2_ENST00000490672.1_5'UTR|TRIM46_ENST00000368382.1_5'Flank|TRIM46_ENST00000368385.4_5'Flank|KRTCAP2_ENST00000295682.4_Missense_Mutation_p.G92V|RP11-201K10.3_ENST00000473363.2_Missense_Mutation_p.D170Y|TRIM46_ENST00000368383.3_5'Flank|TRIM46_ENST00000543729.1_5'Flank|TRIM46_ENST00000392451.2_5'Flank|TRIM46_ENST00000545012.1_5'Flank	NM_001256601.1|NM_001282378.1	NP_001243530.1|NP_001269307.1	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46							intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TGCTTGGAATCCTTTGCCAAA	0.443																																					p.G92V		.											.	KRTCAP2	90	0			c.G275T						.						112.0	113.0	113.0					1																	155145067		2203	4300	6503	SO:0001631	upstream_gene_variant	200185	exon3			TGGAATCCTTTGC		CCDS1097.1, CCDS58033.1, CCDS60285.1, CCDS72932.1, CCDS72931.1	1q22	2013-01-09	2011-01-25		ENSG00000163462	ENSG00000163462		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19019	protein-coding gene	gene with protein product		600986	"""tripartite motif-containing 46"""				Standard	NM_025058		Approved	FLJ23229, TRIFIC	uc001fhs.2	Q7Z4K8	OTTHUMG00000035680		1.37:g.155145067C>A	Exception_encountered	157.0	0.0		282.0	16.0	NM_173852	A0AVI6|B1AVQ4|Q5VT60|Q5VT62|Q6NT17|Q6NT41|Q6ZRL7|Q9H5P2	Missense_Mutation	SNP	ENST00000334634.4	37	CCDS1097.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.039061	0.93630	.	.	ENSG00000163463	ENST00000295682	T	0.53206	0.63	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.63988	0.2558	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.68002	-0.5524	10	0.87932	D	0	-2.9392	13.7846	0.63102	0.0:1.0:0.0:0.0	.	92	Q8N6L1	KTAP2_HUMAN	V	92	ENSP00000295682:G92V	ENSP00000295682:G92V	G	-	2	0	KRTCAP2	153411691	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.172000	0.77604	2.708000	0.92522	0.467000	0.42956	GGA	.		0.443	TRIM46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086728.1	NM_025058	
LGSN	51557	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	63990576	63990576	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr6:63990576T>A	ENST00000370657.4	-	4	913	c.880A>T	c.(880-882)Agg>Tgg	p.R294W	LGSN_ENST00000370658.5_Intron			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	294					glutamine biosynthetic process (GO:0006542)	plasma membrane (GO:0005886)	glutamate-ammonia ligase activity (GO:0004356)			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TTATATTTCCTTGCCACTTCT	0.413																																					p.R294W		.											.	LGSN	227	0			c.A880T						.						58.0	57.0	57.0					6																	63990576		2203	4300	6503	SO:0001583	missense	51557	exon4			ATTTCCTTGCCAC	AF242388	CCDS4964.1, CCDS55027.1	6q12	2013-09-19	2008-09-19	2008-09-19	ENSG00000146166	ENSG00000146166			21016	protein-coding gene	gene with protein product		611470	"""glutamate-ammonia ligase (glutamine synthetase) domain containing 1"""	GLULD1		12107412	Standard	NM_016571		Approved	LGS	uc003peh.3	Q5TDP6	OTTHUMG00000014946	ENST00000370657.4:c.880A>T	6.37:g.63990576T>A	ENSP00000359691:p.Arg294Trp	104.0	0.0		145.0	17.0	NM_016571	A1L421|Q0PVN9|Q0PVP0|Q9NYJ0	Missense_Mutation	SNP	ENST00000370657.4	37	CCDS4964.1	.	.	.	.	.	.	.	.	.	.	T	13.51	2.258331	0.39896	.	.	ENSG00000146166	ENST00000370657	D	0.86769	-2.17	5.62	4.44	0.53790	Glutamine synthetase, catalytic domain (1);Glutamine synthetase/guanido kinase, catalytic domain (1);	0.083576	0.85682	D	0.000000	D	0.85596	0.5733	M	0.68593	2.085	0.80722	D	1	P	0.40197	0.706	P	0.48815	0.591	D	0.86624	0.1881	10	0.87932	D	0	-25.0044	12.1	0.53778	0.0:0.0:0.1438:0.8562	.	294	Q5TDP6	LGSN_HUMAN	W	294	ENSP00000359691:R294W	ENSP00000359691:R294W	R	-	1	2	LGSN	64048535	1.000000	0.71417	0.981000	0.43875	0.007000	0.05969	4.968000	0.63728	0.936000	0.37367	0.533000	0.62120	AGG	.		0.413	LGSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041076.2	NM_016571	
LHCGR	3973	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	48915238	48915238	+	Silent	SNP	C	C	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr2:48915238C>T	ENST00000294954.7	-	11	1719	c.1698G>A	c.(1696-1698)aaG>aaA	p.K566K	LHCGR_ENST00000405626.1_Silent_p.K539K|LHCGR_ENST00000403273.1_3'UTR|LHCGR_ENST00000344775.3_Silent_p.K504K|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000401907.1_3'UTR	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	566					activation of adenylate cyclase activity (GO:0007190)|cellular response to gonadotropin stimulus (GO:0071371)|cognition (GO:0050890)|development of secondary male sexual characteristics (GO:0046544)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|ovarian follicle development (GO:0001541)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|regulation of steroid hormone biosynthetic process (GO:0090030)|seminiferous tubule development (GO:0072520)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	choriogonadotropin hormone binding (GO:0038106)|choriogonadotropin hormone receptor activity (GO:0035472)|luteinizing hormone receptor activity (GO:0004964)			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Buserelin(DB06719)|Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	TCTTAGCAATCTTTGTATCTT	0.378																																					p.K566K		.											.	LHCGR	589	0			c.G1698A						.						112.0	111.0	111.0					2																	48915238		2203	4300	6503	SO:0001819	synonymous_variant	3973	exon11			AGCAATCTTTGTA		CCDS1842.1	2p21	2012-08-10			ENSG00000138039	ENSG00000138039		"""GPCR / Class A : Gonadotropin and TSH receptors"""	6585	protein-coding gene	gene with protein product		152790	"""hypergonadotropic hypogonadism"""	HHG			Standard	NM_000233		Approved	LHR, LCGR, LGR2, ULG5	uc002rwu.4	P22888	OTTHUMG00000129257	ENST00000294954.7:c.1698G>A	2.37:g.48915238C>T		151.0	0.0		169.0	19.0	NM_000233	Q14751|Q15996|Q9UEW9	Silent	SNP	ENST00000294954.7	37	CCDS1842.1																																																																																			.		0.378	LHCGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251364.4	NM_000233.3	
LIPI	149998	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	21	15579225	15579225	+	Intron	SNP	T	T	C			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr21:15579225T>C	ENST00000536861.1	-	1	46				LIPI_ENST00000344577.2_Missense_Mutation_p.H7R			Q6XZB0	LIPI_HUMAN	lipase, member I						lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|phospholipase activity (GO:0004620)			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		CAAGTTATTATGTAAACATTT	0.378																																					p.H7R		.											.	LIPI	70	0			c.A20G						.						97.0	100.0	99.0					21																	15579225		2203	4300	6503	SO:0001627	intron_variant	149998	exon1			TTATTATGTAAAC	BC028732	CCDS13564.1	21q11.2	2012-07-31			ENSG00000188992	ENSG00000188992			18821	protein-coding gene	gene with protein product	"""membrane-associated phospholipase A1 beta"", ""cancer/testis antigen 17"""	609252				12719377	Standard	XM_005260924		Approved	PRED5, LPDL, CT17, mPA-PLA1beta, PLA1C	uc002yjm.3	Q6XZB0	OTTHUMG00000074258	ENST00000536861.1:c.46+3895A>G	21.37:g.15579225T>C		48.0	0.0		58.0	14.0	NM_198996	G1JSG3|G1JSG4|G1JSG5|G1JSG6|G1JSG7|G1JSG8|G1JSG9	Missense_Mutation	SNP	ENST00000536861.1	37		.	.	.	.	.	.	.	.	.	.	T	5.420	0.262683	0.10294	.	.	ENSG00000188992	ENST00000344577	D	0.87729	-2.29	2.02	-0.57	0.11753	.	.	.	.	.	T	0.73289	0.3568	.	.	.	0.09310	N	1	B	0.23540	0.087	B	0.19391	0.025	T	0.57183	-0.7855	8	0.29301	T	0.29	.	1.64	0.02750	0.2944:0.1882:0.0:0.5174	.	7	Q6XZB0-2	.	R	7	ENSP00000343331:H7R	ENSP00000343331:H7R	H	-	2	0	LIPI	14501096	0.001000	0.12720	0.007000	0.13788	0.672000	0.39443	-0.397000	0.07269	-0.143000	0.11334	0.334000	0.21626	CAT	.		0.378	LIPI-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_198996	
LPHN3	23284	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	62800605	62800605	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr4:62800605T>A	ENST00000514591.1	+	13	2285	c.1956T>A	c.(1954-1956)aaT>aaA	p.N652K	LPHN3_ENST00000508078.1_3'UTR|LPHN3_ENST00000507164.1_Missense_Mutation_p.N720K|LPHN3_ENST00000504896.1_Missense_Mutation_p.N652K|LPHN3_ENST00000511324.1_Missense_Mutation_p.N720K|LPHN3_ENST00000509896.1_Missense_Mutation_p.N720K|LPHN3_ENST00000545650.1_Missense_Mutation_p.N652K|LPHN3_ENST00000506700.1_Missense_Mutation_p.N652K|LPHN3_ENST00000508946.1_Missense_Mutation_p.N652K|LPHN3_ENST00000508693.1_Missense_Mutation_p.N720K|LPHN3_ENST00000506720.1_Missense_Mutation_p.N720K|LPHN3_ENST00000512091.2_Missense_Mutation_p.N652K|LPHN3_ENST00000507625.1_Missense_Mutation_p.N720K|LPHN3_ENST00000506746.1_Missense_Mutation_p.N720K|LPHN3_ENST00000514996.1_Missense_Mutation_p.N652K|LPHN3_ENST00000514157.1_Missense_Mutation_p.N652K			Q9HAR2	LPHN3_HUMAN	latrophilin 3	639					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						AAGCTTTGAATGCATGGAGAG	0.478																																					p.N652K		.											.	LPHN3	508	0			c.T1956A						.						86.0	89.0	88.0					4																	62800605		2058	4215	6273	SO:0001583	missense	23284	exon11			TTTGAATGCATGG	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.1956T>A	4.37:g.62800605T>A	ENSP00000422533:p.Asn652Lys	210.0	0.0		238.0	65.0	NM_015236	E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	CCDS54768.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	4.289|4.289	0.052855|0.052855	0.08291|0.08291	.|.	.|.	ENSG00000150471|ENSG00000150471	ENST00000502815|ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000534975;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.08634	.|3.07;3.07;3.07;3.07;3.07;3.07;3.07;3.07;3.07;3.07;3.07;3.07;3.07;3.07;3.07	5.43|5.43	3.01|3.01	0.34805|0.34805	.|Domain of unknown function DUF3497 (1);	.|0.276650	.|0.42172	.|D	.|0.000742	T|T	0.02304|0.02304	0.0071|0.0071	N|N	0.01576|0.01576	-0.805|-0.805	0.39293|0.39293	D|D	0.964778|0.964778	.|B;B;B	.|0.11235	.|0.002;0.003;0.004	.|B;B;B	.|0.11329	.|0.006;0.006;0.002	T|T	0.41070|0.41070	-0.9529|-0.9529	5|10	.|0.10636	.|T	.|0.68	.|.	4.8759|4.8759	0.13656|0.13656	0.1267:0.2102:0.0:0.6631|0.1267:0.2102:0.0:0.6631	.|.	.|652;639;652	.|E9PE04;Q9HAR2;Q9HAR2-2	.|.;LPHN3_HUMAN;.	S|K	110|652;652;720;720;652;639;652;639;652;720;720;720;652;652;652;720;720;652	.|ENSP00000423388:N652K;ENSP00000422533:N652K;ENSP00000423787:N720K;ENSP00000425033:N720K;ENSP00000424120:N652K;ENSP00000439831:N652K;ENSP00000421476:N720K;ENSP00000424030:N720K;ENSP00000421372:N720K;ENSP00000425201:N652K;ENSP00000423434:N652K;ENSP00000421627:N652K;ENSP00000420931:N720K;ENSP00000425884:N720K;ENSP00000424258:N652K	.|ENSP00000280009:N652K	C|N	+|+	1|3	0|2	LPHN3|LPHN3	62483200|62483200	0.994000|0.994000	0.37717|0.37717	1.000000|1.000000	0.80357|0.80357	0.965000|0.965000	0.64279|0.64279	0.175000|0.175000	0.16762|0.16762	0.511000|0.511000	0.28236|0.28236	-0.263000|-0.263000	0.10527|0.10527	TGC|AAT	.		0.478	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1		
LRRC1	55227	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	53764548	53764548	+	Missense_Mutation	SNP	A	A	G	rs200563845		TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr6:53764548A>G	ENST00000370888.1	+	8	923	c.646A>G	c.(646-648)Ata>Gta	p.I216V		NM_018214.4	NP_060684.4	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	216						cytoplasm (GO:0005737)|membrane (GO:0016020)				cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		GTTATAGGAAATAGGAAATCT	0.403													A|||	1	0.000199681	0.0	0.0014	5008	,	,		17946	0.0		0.0	False		,,,				2504	0.0				p.I216V		.											.	LRRC1	91	0			c.A646G						.						111.0	102.0	104.0					6																	53764548		1836	4093	5929	SO:0001583	missense	55227	exon8			TAGGAAATAGGAA	AF332199	CCDS4953.2	6p12.2	2014-07-30	2003-11-19		ENSG00000137269	ENSG00000137269			14307	protein-coding gene	gene with protein product		608195	"""leucine-rich repeat-containing 1"""				Standard	NM_018214		Approved	dJ523E19.1, LANO, FLJ10775, FLJ11834	uc003pcd.1	Q9BTT6	OTTHUMG00000014885	ENST00000370888.1:c.646A>G	6.37:g.53764548A>G	ENSP00000359925:p.Ile216Val	95.0	0.0		122.0	17.0	NM_018214	Q5TGN3|Q9HAC0|Q9NVF1	Missense_Mutation	SNP	ENST00000370888.1	37	CCDS4953.2	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	A	12.66	2.004911	0.35415	.	.	ENSG00000137269	ENST00000370888	T	0.29397	1.57	5.64	3.23	0.37069	.	0.143129	0.64402	D	0.000007	T	0.09730	0.0239	L	0.43554	1.36	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.07520	-1.0768	10	0.39692	T	0.17	.	4.6719	0.12692	0.6952:0.0:0.162:0.1428	.	216	Q9BTT6	LRRC1_HUMAN	V	216	ENSP00000359925:I216V	ENSP00000359925:I216V	I	+	1	0	LRRC1	53872507	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	2.648000	0.46647	0.407000	0.25591	0.528000	0.53228	ATA	A|0.999;G|0.000		0.403	LRRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040970.2	NM_025168	
LRRC3B	116135	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	26751290	26751290	+	Missense_Mutation	SNP	T	T	G			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr3:26751290T>G	ENST00000396641.2	+	2	719	c.127T>G	c.(127-129)Tct>Gct	p.S43A	LRRC3B_ENST00000456208.2_Missense_Mutation_p.S43A|LRRC3B_ENST00000417744.1_Missense_Mutation_p.S43A|AC114877.3_ENST00000446601.1_lincRNA	NM_052953.2	NP_443185.1	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B	43	LRRNT.					integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						TTGTTCTTCCTCTGGGGGTTT	0.438																																					p.S43A		.											.	LRRC3B	94	0			c.T127G						.						148.0	141.0	143.0					3																	26751290		2203	4300	6503	SO:0001583	missense	116135	exon2			TCTTCCTCTGGGG	AF396933	CCDS2644.1	3p24	2004-07-12			ENSG00000179796	ENSG00000179796			28105	protein-coding gene	gene with protein product							Standard	NM_052953		Approved	LRP15	uc003cdp.3	Q96PB8	OTTHUMG00000130572	ENST00000396641.2:c.127T>G	3.37:g.26751290T>G	ENSP00000379880:p.Ser43Ala	177.0	0.0		150.0	36.0	NM_052953	Q5M8T0	Missense_Mutation	SNP	ENST00000396641.2	37	CCDS2644.1	.	.	.	.	.	.	.	.	.	.	T	11.53	1.667181	0.29604	.	.	ENSG00000179796	ENST00000396641;ENST00000414619;ENST00000432040;ENST00000417744;ENST00000456208	T;T;T;T	0.62105	0.2;0.05;0.2;0.2	6.17	6.17	0.99709	Leucine-rich repeat-containing N-terminal (2);	0.159349	0.64402	D	0.000019	T	0.45418	0.1341	N	0.16307	0.4	0.42957	D	0.994393	B	0.10296	0.003	B	0.15052	0.012	T	0.39440	-0.9614	10	0.32370	T	0.25	-14.2951	11.1318	0.48351	0.1375:0.0:0.0:0.8625	.	43	Q96PB8	LRC3B_HUMAN	A	43	ENSP00000379880:S43A;ENSP00000398184:S43A;ENSP00000406370:S43A;ENSP00000394940:S43A	ENSP00000379880:S43A	S	+	1	0	LRRC3B	26726294	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.787000	0.38704	2.371000	0.80710	0.533000	0.62120	TCT	.		0.438	LRRC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252997.2	NM_052953	
LRRK1	79705	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	15	101592136	101592136	+	Silent	SNP	T	T	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr15:101592136T>A	ENST00000388948.3	+	24	4019	c.3660T>A	c.(3658-3660)ccT>ccA	p.P1220P	RP11-505E24.3_ENST00000558979.1_RNA|LRRK1_ENST00000284395.5_Silent_p.P1217P|RP11-505E24.2_ENST00000559857.1_RNA	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AGCTGGTCCCTGAACTGTTCA	0.637																																					p.P1220P		.											.	LRRK1	602	0			c.T3660A						.						43.0	49.0	47.0					15																	101592136		2021	4180	6201	SO:0001819	synonymous_variant	79705	exon24			GGTCCCTGAACTG	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.3660T>A	15.37:g.101592136T>A		134.0	0.0		108.0	10.0	NM_024652		Silent	SNP	ENST00000388948.3	37	CCDS42086.1																																																																																			.		0.637	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652	
LTBP4	8425	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	41131776	41131776	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr19:41131776G>C	ENST00000308370.7	+	31	4045	c.4045G>C	c.(4045-4047)Gtg>Ctg	p.V1349L	LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000204005.9_Missense_Mutation_p.V1312L|LTBP4_ENST00000545697.1_Missense_Mutation_p.V717L|LTBP4_ENST00000243562.9_3'UTR|LTBP4_ENST00000396819.3_Missense_Mutation_p.V1282L	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	1350	TB 4.				extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CAATCTGGGAGTGTGCTGGCA	0.637																																					.		.											.	LTBP4	93	0			.						.						18.0	21.0	20.0					19																	41131776		2161	4277	6438	SO:0001583	missense	8425	.			CTGGGAGTGTGCT	Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"""Latent transforming growth factor, beta binding proteins"""	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000308370.7:c.4045G>C	19.37:g.41131776G>C	ENSP00000311905:p.Val1349Leu	36.0	0.0		79.0	14.0	.	O00508|O75412|O75413	Missense_Mutation	SNP	ENST00000308370.7	37		.	.	.	.	.	.	.	.	.	.	G	15.28	2.787037	0.49997	.	.	ENSG00000090006	ENST00000204005;ENST00000545697;ENST00000308370;ENST00000396819;ENST00000318809	D;D;D;D	0.92249	-3.0;-3.0;-3.0;-3.0	4.34	4.34	0.51931	Matrix fibril-associated (2);TGF-beta binding (1);	0.000000	0.32533	U	0.005973	D	0.92414	0.7592	.	.	.	0.35347	D	0.787043	B;B;B;P;P;P	0.50156	0.039;0.106;0.064;0.932;0.905;0.817	B;B;B;P;P;B	0.61592	0.019;0.042;0.019;0.891;0.501;0.261	D	0.90925	0.4786	9	0.12766	T	0.61	.	11.0683	0.47989	0.0:0.0:0.8141:0.1859	.	110;362;570;1282;1350;1312	F5GYA5;Q8N2S1-4;B3KXY6;E7EUU1;Q8N2S1;E7ENG9	.;.;.;.;LTBP4_HUMAN;.	L	1312;717;1349;1282;110	ENSP00000204005:V1312L;ENSP00000441054:V717L;ENSP00000311905:V1349L;ENSP00000380031:V1282L	ENSP00000204005:V1312L	V	+	1	0	LTBP4	45823616	0.204000	0.23447	0.999000	0.59377	0.962000	0.63368	0.560000	0.23500	2.236000	0.73375	0.460000	0.39030	GTG	.		0.637	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003573	
MADD	8567	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	47315515	47315515	+	Missense_Mutation	SNP	G	G	A	rs375878509		TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr11:47315515G>A	ENST00000311027.5	+	22	3662	c.3497G>A	c.(3496-3498)aGc>aAc	p.S1166N	MADD_ENST00000406482.1_Missense_Mutation_p.S1085N|MADD_ENST00000402799.1_Missense_Mutation_p.S1085N|MADD_ENST00000342922.4_Missense_Mutation_p.S1128N|MADD_ENST00000405573.2_5'UTR|MADD_ENST00000402192.2_Missense_Mutation_p.S1128N|MADD_ENST00000407859.3_Missense_Mutation_p.S1105N|MADD_ENST00000349238.3_Missense_Mutation_p.S1148N|MADD_ENST00000395336.3_Missense_Mutation_p.S1166N|MADD_ENST00000395344.3_Missense_Mutation_p.S1085N	NM_003682.3	NP_003673.3			MAP-kinase activating death domain											breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		AGTGGTGTGAGCCTGACGTCT	0.428																																					p.S1166N		.											.	MADD	682	0			c.G3497A						.	G	ASN/SER,ASN/SER,ASN/SER,ASN/SER,ASN/SER,ASN/SER,ASN/SER,ASN/SER,ASN/SER,ASN/SER	0,4402		0,0,2201	152.0	140.0	144.0		3254,3254,3497,3383,3314,3254,3443,3254,3497,3383	5.6	1.0	11		144	1,8595	1.2+/-3.3	0,1,4297	no	missense,missense,missense,missense,missense,missense,missense,missense,missense,missense	MADD	NM_001135943.1,NM_001135944.1,NM_003682.3,NM_130470.2,NM_130471.2,NM_130472.2,NM_130473.2,NM_130474.2,NM_130475.2,NM_130476.2	46,46,46,46,46,46,46,46,46,46	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	1085/1545,1085/1542,1166/1648,1128/1589,1105/1566,1085/1546,1148/1609,1085/1480,1166/1582,1128/1588	47315515	1,12997	2201	4298	6499	SO:0001583	missense	8567	exon22			GTGTGAGCCTGAC	AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"""DENN/MADD domain containing"""	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.3497G>A	11.37:g.47315515G>A	ENSP00000310933:p.Ser1166Asn	128.0	0.0		132.0	32.0	NM_130475		Missense_Mutation	SNP	ENST00000311027.5	37	CCDS7930.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.987413	0.93106	0.0	1.16E-4	ENSG00000110514	ENST00000342922;ENST00000395342;ENST00000402799;ENST00000406482;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000395336;ENST00000402192	T;T;T;T;T;T;T;T;T	0.08458	3.33;3.13;3.13;3.34;3.22;3.14;3.09;3.22;3.33	5.56	5.56	0.83823	.	0.039078	0.85682	D	0.000000	T	0.16214	0.0390	L	0.32530	0.975	0.80722	D	1	P;P;P;P;P;P;P;P;P;P	0.48911	0.839;0.745;0.917;0.835;0.9;0.9;0.855;0.915;0.864;0.855	B;B;P;P;P;P;P;P;P;P	0.54460	0.445;0.445;0.753;0.648;0.648;0.648;0.697;0.697;0.571;0.697	T	0.01051	-1.1468	10	0.36615	T	0.2	-16.3602	19.5211	0.95185	0.0:0.0:1.0:0.0	.	1085;1085;1166;1085;1085;1085;1148;1105;1166;1128	B5MEE5;A8K8S7;Q8WXG6-7;F8W9P9;Q8WXG6-6;Q8WXG6-5;Q8WXG6-2;Q8WXG6-4;Q8WXG6;Q8WXG6-3	.;.;.;.;.;.;.;.;MADD_HUMAN;.	N	1128;1085;1085;1085;1148;1166;1105;1085;1166;1128	ENSP00000343902:S1128N;ENSP00000385585:S1085N;ENSP00000384435:S1085N;ENSP00000304505:S1148N;ENSP00000310933:S1166N;ENSP00000384204:S1105N;ENSP00000378753:S1085N;ENSP00000378745:S1166N;ENSP00000384287:S1128N	ENSP00000310933:S1166N	S	+	2	0	MADD	47272091	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.598000	0.82745	2.589000	0.87451	0.655000	0.94253	AGC	.		0.428	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317746.1		
MAGEB6	158809	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	26212302	26212302	+	Silent	SNP	C	C	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chrX:26212302C>A	ENST00000379034.1	+	2	488	c.339C>A	c.(337-339)ggC>ggA	p.G113G		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	113	Ser-rich.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						CACCCACTGGCTCTCCTGATG	0.537																																					p.G113G		.											.	MAGEB6	133	0			c.C339A						.																																			SO:0001819	synonymous_variant	158809	exon2			CACTGGCTCTCCT	AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 4"""	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.339C>A	X.37:g.26212302C>A		192.0	0.0		215.0	59.0	NM_173523	Q6GS19|Q9H219	Silent	SNP	ENST00000379034.1	37	CCDS14217.1																																																																																			.		0.537	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523	
MAMLD1	10046	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	149638231	149638231	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chrX:149638231T>C	ENST00000370401.2	+	4	696	c.386T>C	c.(385-387)tTa>tCa	p.L129S	MAMLD1_ENST00000468306.1_3'UTR|MAMLD1_ENST00000455522.2_5'Flank|MAMLD1_ENST00000262858.5_Missense_Mutation_p.L129S|MAMLD1_ENST00000432680.2_Missense_Mutation_p.L104S|MAMLD1_ENST00000426613.2_Missense_Mutation_p.L104S			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	129					male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					GGCCAGTCATTACTGCTGGAG	0.517																																					p.L129S		.											.	MAMLD1	130	0			c.T386C						.						85.0	77.0	80.0					X																	149638231		2203	4300	6503	SO:0001583	missense	10046	exon3			AGTCATTACTGCT	U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"""chromosome X open reading frame 6"""	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.386T>C	X.37:g.149638231T>C	ENSP00000359428:p.Leu129Ser	130.0	0.0		141.0	19.0	NM_005491	B2RCQ4|B4DG93|B9EGA5	Missense_Mutation	SNP	ENST00000370401.2	37	CCDS14693.2	.	.	.	.	.	.	.	.	.	.	T	9.822	1.185984	0.21870	.	.	ENSG00000013619	ENST00000445612;ENST00000370401;ENST00000432680;ENST00000358892;ENST00000262858;ENST00000426613	T;T;T;T	0.70164	-0.06;-0.46;-0.06;-0.06	5.36	4.17	0.49024	.	0.202399	0.30383	N	0.009744	T	0.67813	0.2933	L	0.54323	1.7	0.25087	N	0.990884	P;D;P;D	0.56746	0.763;0.959;0.904;0.977	B;P;P;P	0.53593	0.288;0.647;0.625;0.73	T	0.58418	-0.7640	10	0.16896	T	0.51	-3.1352	10.9972	0.47582	0.1415:0.0:0.0:0.8585	.	91;104;104;129	F6WVG1;Q13495-4;Q13495-3;Q13495	.;.;.;MAMD1_HUMAN	S	91;129;104;129;129;104	ENSP00000359428:L129S;ENSP00000414517:L104S;ENSP00000262858:L129S;ENSP00000397438:L104S	ENSP00000262858:L129S	L	+	2	0	MAMLD1	149388889	0.081000	0.21417	0.001000	0.08648	0.004000	0.04260	1.883000	0.39658	0.650000	0.30769	0.486000	0.48141	TTA	.		0.517	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491	
KCNK7	10089	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	11	65365896	65365896	+	5'Flank	SNP	T	T	C			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr11:65365896T>C	ENST00000340313.4	-	0	0				KCNK7_ENST00000342202.4_5'Flank|KCNK7_ENST00000394216.2_5'Flank|MAP3K11_ENST00000534432.1_5'Flank|KCNK7_ENST00000394217.2_5'Flank|MAP3K11_ENST00000532507.1_Missense_Mutation_p.T220A|MAP3K11_ENST00000530153.1_Missense_Mutation_p.T547A|MAP3K11_ENST00000309100.3_Missense_Mutation_p.T804A	NM_033347.1	NP_203133.1	Q9Y2U2	KCNK7_HUMAN	potassium channel, subfamily K, member 7						potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			endometrium(1)|liver(1)|lung(1)	3						GGGAACAAGGTCCAGGGTGCT	0.667																																					p.T804A		.											.	MAP3K11	980	0			c.A2410G						.						43.0	41.0	41.0					11																	65365896		2201	4297	6498	SO:0001631	upstream_gene_variant	4296	exon10			ACAAGGTCCAGGG	AF110522	CCDS8106.1, CCDS31608.1, CCDS41673.1	11q13	2012-03-07			ENSG00000173338	ENSG00000173338		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6282	protein-coding gene	gene with protein product		603940				10206991, 11256078, 16382106	Standard	NM_033347		Approved	K2p7.1	uc001oes.3	Q9Y2U2	OTTHUMG00000166528		11.37:g.65365896T>C	Exception_encountered	36.0	0.0		42.0	5.0	NM_002419	Q3SYI2|Q9Y2U3|Q9Y2U4	Missense_Mutation	SNP	ENST00000340313.4	37	CCDS31608.1	.	.	.	.	.	.	.	.	.	.	T	19.09	3.760226	0.69763	.	.	ENSG00000173327	ENST00000309100;ENST00000532507;ENST00000530153	T;T	0.75938	-0.87;-0.98	5.3	4.09	0.47781	.	0.078766	0.49916	D	0.000129	T	0.58538	0.2129	N	0.22421	0.69	0.30055	N	0.811426	B;B	0.24768	0.111;0.023	B;B	0.27170	0.077;0.009	T	0.56842	-0.7912	10	0.40728	T	0.16	.	7.9927	0.30250	0.1818:0.0:0.0:0.8182	.	293;804	B3KQY4;Q16584	.;M3K11_HUMAN	A	804;220;547	ENSP00000309597:T804A;ENSP00000433886:T547A	ENSP00000309597:T804A	T	-	1	0	MAP3K11	65122472	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	1.632000	0.37102	2.126000	0.65437	0.533000	0.62120	ACC	.		0.667	KCNK7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390206.1	NM_005714	
MAP3K9	4293	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	71206814	71206814	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr14:71206814G>C	ENST00000554752.2	-	7	1634	c.1635C>G	c.(1633-1635)agC>agG	p.S545R	MAP3K9_ENST00000381250.4_Missense_Mutation_p.S545R|MAP3K9_ENST00000554146.1_Missense_Mutation_p.S282R|MAP3K9_ENST00000553414.1_Missense_Mutation_p.S239R|MAP3K9_ENST00000555993.2_Missense_Mutation_p.S545R	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	545					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GACTGGAGCGGCTGTTGATAA	0.532																																					p.S545R	GBM(114;411 1587 13539 28235 50070)	.											.	MAP3K9	546	0			c.C1635G						.						152.0	138.0	143.0					14																	71206814		2203	4300	6503	SO:0001583	missense	4293	exon7			GGAGCGGCTGTTG	AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.1635C>G	14.37:g.71206814G>C	ENSP00000451612:p.Ser545Arg	343.0	1.0		307.0	51.0	NM_033141	A3KN85|Q0D2G7|Q6EH31|Q9H2N5	Missense_Mutation	SNP	ENST00000554752.2	37		.	.	.	.	.	.	.	.	.	.	G	16.25	3.071167	0.55646	.	.	ENSG00000006432	ENST00000554752;ENST00000005198;ENST00000553414;ENST00000381250;ENST00000554146;ENST00000542284	T;T;T;T	0.12147	2.71;2.71;2.71;2.71	5.65	4.74	0.60224	Protein kinase-like domain (1);	0.162063	0.64402	D	0.000002	T	0.14098	0.0341	L	0.49778	1.585	0.40230	D	0.977838	B;B;B;B	0.14438	0.001;0.006;0.005;0.01	B;B;B;B	0.19391	0.009;0.011;0.009;0.025	T	0.02625	-1.1132	10	0.56958	D	0.05	.	9.9028	0.41357	0.07:0.0:0.7929:0.137	.	282;545;545;239	G3V4P9;P80192;P80192-4;G3V347	.;M3K9_HUMAN;.;.	R	545;545;239;545;282;273	ENSP00000451612:S545R;ENSP00000451038:S239R;ENSP00000370649:S545R;ENSP00000451921:S282R	ENSP00000005198:S545R	S	-	3	2	MAP3K9	70276567	0.497000	0.26067	1.000000	0.80357	0.988000	0.76386	3.034000	0.49751	2.941000	0.99782	0.655000	0.94253	AGC	.		0.532	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2		
MCCC1	56922	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	3	182788806	182788806	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr3:182788806T>A	ENST00000265594.4	-	7	888	c.742A>T	c.(742-744)Aag>Tag	p.K248*	MCCC1_ENST00000539926.1_Nonsense_Mutation_p.K113*|MCCC1_ENST00000492597.1_Nonsense_Mutation_p.K139*	NM_020166.3	NP_064551.3	Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	248	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.|Biotin carboxylation.				biotin metabolic process (GO:0006768)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)|methylcrotonoyl-CoA carboxylase activity (GO:0004485)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	TCTACAAACTTCTCGATCAGC	0.338																																					p.K248X		.											.	MCCC1	92	0			c.A742T						.						89.0	83.0	85.0					3																	182788806		2203	4300	6503	SO:0001587	stop_gained	56922	exon7			CAAACTTCTCGAT	AF310972	CCDS3241.1	3q27.1	2010-04-30	2010-04-30		ENSG00000078070	ENSG00000078070	6.4.1.4		6936	protein-coding gene	gene with protein product		609010	"""methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)"""			11170888	Standard	XR_241502		Approved	MCCA	uc003fle.3	Q96RQ3	OTTHUMG00000158355	ENST00000265594.4:c.742A>T	3.37:g.182788806T>A	ENSP00000265594:p.Lys248*	150.0	0.0		181.0	26.0	NM_020166	Q59ES4|Q9H959|Q9NS97	Nonsense_Mutation	SNP	ENST00000265594.4	37	CCDS3241.1	.	.	.	.	.	.	.	.	.	.	T	36	5.743537	0.96873	.	.	ENSG00000078070	ENST00000265594;ENST00000492597;ENST00000392616;ENST00000539926;ENST00000476176;ENST00000448585;ENST00000541636	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.0863	0.81056	0.0:0.0:0.0:1.0	.	.	.	.	X	248;139;98;113;201;201;139	.	ENSP00000265594:K248X	K	-	1	0	MCCC1	184271500	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	7.567000	0.82357	2.251000	0.74343	0.528000	0.53228	AAG	.		0.338	MCCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350775.1	NM_020166	
MCTP1	79772	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	94114816	94114816	+	Splice_Site	SNP	T	T	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr5:94114816T>A	ENST00000515393.1	-	19	2608	c.2609A>T	c.(2608-2610)aAg>aTg	p.K870M	MCTP1_ENST00000429576.2_Splice_Site_p.K563M|MCTP1_ENST00000312216.8_Splice_Site_p.K649M|MCTP1_ENST00000514040.1_5'UTR|MCTP1_ENST00000505078.1_Splice_Site_p.K386M	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	870					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		GATAATTACCTTGTCATCTTT	0.423																																					p.K870M		.											.	MCTP1	92	0			c.A2609T						.						184.0	142.0	156.0					5																	94114816		2203	4300	6503	SO:0001630	splice_region_variant	79772	exon19			ATTACCTTGTCAT		CCDS34203.1, CCDS47247.1, CCDS75275.1	5q15	2008-02-05			ENSG00000175471	ENSG00000175471			26183	protein-coding gene	gene with protein product						15528213	Standard	XM_005272082		Approved	FLJ22344	uc003kkx.2	Q6DN14	OTTHUMG00000162742	ENST00000515393.1:c.2610+1A>T	5.37:g.94114816T>A		186.0	0.0		234.0	36.0	NM_024717	Q6DN13|Q8N2W1|Q8NBA2|Q96LX0|Q9H6E8	Missense_Mutation	SNP	ENST00000515393.1	37	CCDS34203.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.084013	0.76642	.	.	ENSG00000175471	ENST00000515393;ENST00000429576;ENST00000505078;ENST00000312216;ENST00000508509	T;T;T;T;T	0.78924	-1.22;-1.04;-0.18;-1.11;-0.93	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	D	0.87989	0.6317	M	0.78049	2.395	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.988	D	0.89320	0.3639	10	0.72032	D	0.01	-16.3989	15.7739	0.78193	0.0:0.0:0.0:1.0	.	870;563;649	Q6DN14;Q6DN14-3;Q6DN14-2	MCTP1_HUMAN;.;.	M	870;563;386;649;590	ENSP00000424126:K870M;ENSP00000391639:K563M;ENSP00000426417:K386M;ENSP00000308957:K649M;ENSP00000423410:K590M	ENSP00000308957:K649M	K	-	2	0	MCTP1	94140572	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.165000	0.77544	2.367000	0.80283	0.528000	0.53228	AAG	.		0.423	MCTP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370280.3	NM_024717	Missense_Mutation
MDGA1	266727	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	6	37606362	37606362	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr6:37606362T>C	ENST00000434837.3	-	15	3796	c.2618A>G	c.(2617-2619)aAt>aGt	p.N873S	MDGA1_ENST00000505425.1_Missense_Mutation_p.N873S|MDGA1_ENST00000297153.7_Missense_Mutation_p.N877S	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	873	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				brain development (GO:0007420)|cerebral cortex radially oriented cell migration (GO:0021799)|neuron migration (GO:0001764)|spinal cord association neuron differentiation (GO:0021527)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						CTGCCACACATTGCCCTTATT	0.652																																					p.N873S		.											.	MDGA1	91	0			c.A2618G						.						51.0	57.0	55.0					6																	37606362		2046	4181	6227	SO:0001583	missense	266727	exon15			CACACATTGCCCT	AF478693	CCDS47417.1	6p21	2013-01-29			ENSG00000112139	ENSG00000112139		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19267	protein-coding gene	gene with protein product		609626				15922729, 15019943	Standard	NM_153487		Approved	GPIM, MAMDC3	uc003onu.1	Q8NFP4	OTTHUMG00000014626	ENST00000434837.3:c.2618A>G	6.37:g.37606362T>C	ENSP00000402584:p.Asn873Ser	73.0	0.0		109.0	9.0	NM_153487	A6NHG0|Q8NBE3	Missense_Mutation	SNP	ENST00000434837.3	37	CCDS47417.1	.	.	.	.	.	.	.	.	.	.	T	19.73	3.881862	0.72294	.	.	ENSG00000112139	ENST00000434837;ENST00000297153;ENST00000505425	T;T;T	0.02050	4.48;4.48;4.48	5.04	5.04	0.67666	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.234553	0.28600	N	0.014779	T	0.01730	0.0055	L	0.43598	1.365	0.25207	N	0.990003	D;P	0.54964	0.969;0.625	P;B	0.47673	0.554;0.353	T	0.43589	-0.9382	10	0.56958	D	0.05	.	13.0768	0.59091	0.0:0.0:0.0:1.0	.	873;873	Q8NFP4-2;Q8NFP4	.;MDGA1_HUMAN	S	873;877;873	ENSP00000402584:N873S;ENSP00000297153:N877S;ENSP00000422042:N873S	ENSP00000297153:N877S	N	-	2	0	MDGA1	37714340	0.975000	0.34042	0.999000	0.59377	0.997000	0.91878	2.341000	0.43983	2.017000	0.59298	0.529000	0.55759	AAT	.		0.652	MDGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040419.3		
MDGA1	266727	broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	37611590	37611590	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr6:37611590T>C	ENST00000434837.3	-	14	3709	c.2531A>G	c.(2530-2532)cAc>cGc	p.H844R	MDGA1_ENST00000505425.1_Missense_Mutation_p.H844R|MDGA1_ENST00000510077.1_5'Flank|MDGA1_ENST00000297153.7_Missense_Mutation_p.H848R	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	844	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				brain development (GO:0007420)|cerebral cortex radially oriented cell migration (GO:0021799)|neuron migration (GO:0001764)|spinal cord association neuron differentiation (GO:0021527)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						CTCACCGATGTGTTTCCCGTA	0.602																																					p.H844R		.											.	MDGA1	91	0			c.A2531G						.						86.0	89.0	88.0					6																	37611590		2066	4202	6268	SO:0001583	missense	266727	exon14			CCGATGTGTTTCC	AF478693	CCDS47417.1	6p21	2013-01-29			ENSG00000112139	ENSG00000112139		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19267	protein-coding gene	gene with protein product		609626				15922729, 15019943	Standard	NM_153487		Approved	GPIM, MAMDC3	uc003onu.1	Q8NFP4	OTTHUMG00000014626	ENST00000434837.3:c.2531A>G	6.37:g.37611590T>C	ENSP00000402584:p.His844Arg	167.0	1.0		253.0	24.0	NM_153487	A6NHG0|Q8NBE3	Missense_Mutation	SNP	ENST00000434837.3	37	CCDS47417.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.06|15.06	2.722217|2.722217	0.48728|0.48728	.|.	.|.	ENSG00000112139|ENSG00000112139	ENST00000434837;ENST00000297153;ENST00000505425|ENST00000418178	T;T;T|.	0.01981|.	4.52;4.52;4.52|.	5.56|5.56	5.56|5.56	0.83823|0.83823	Concanavalin A-like lectin/glucanase (1);MAM domain (3);|.	0.000000|.	0.49916|.	D|.	0.000134|.	T|T	0.61324|0.61324	0.2338|0.2338	L|L	0.61218|0.61218	1.895|1.895	0.47123|0.47123	D|D	0.999329|0.999329	D;D|.	0.76494|.	0.999;0.998|.	D;D|.	0.69824|.	0.961;0.966|.	T|T	0.62784|0.62784	-0.6781|-0.6781	10|5	0.87932|.	D|.	0|.	.|.	13.468|13.468	0.61266|0.61266	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	844;844|.	Q8NFP4-2;Q8NFP4|.	.;MDGA1_HUMAN|.	R|A	844;848;844|154	ENSP00000402584:H844R;ENSP00000297153:H848R;ENSP00000422042:H844R|.	ENSP00000297153:H848R|.	H|T	-|-	2|1	0|0	MDGA1|MDGA1	37719568|37719568	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.766000|0.766000	0.43426|0.43426	7.607000|7.607000	0.82883|0.82883	2.118000|2.118000	0.64928|0.64928	0.533000|0.533000	0.62120|0.62120	CAC|ACA	.		0.602	MDGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040419.3		
MEGF8	1954	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	42859978	42859978	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr19:42859978G>A	ENST00000251268.6	+	24	4213	c.4213G>A	c.(4213-4215)Gcc>Acc	p.A1405T	MEGF8_ENST00000334370.4_Missense_Mutation_p.A1338T	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1405	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.|EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GGTGGGCTCTGCCCGCTGTGG	0.677																																					p.A1405T		.											.	MEGF8	23	0			c.G4213A						.						15.0	13.0	14.0					19																	42859978		2199	4294	6493	SO:0001583	missense	1954	exon24			GGCTCTGCCCGCT	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.4213G>A	19.37:g.42859978G>A	ENSP00000251268:p.Ala1405Thr	76.0	0.0		57.0	9.0	NM_001271938	A8KAY0|O75097	Missense_Mutation	SNP	ENST00000251268.6	37		.	.	.	.	.	.	.	.	.	.	G	15.39	2.820255	0.50633	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.20598	2.06;2.06	4.61	4.61	0.57282	CUB (1);Epidermal growth factor-like, type 3 (1);	0.183165	0.38217	N	0.001775	T	0.16214	0.0390	N	0.08118	0	0.80722	D	1	P;D	0.60575	0.93;0.988	P;P	0.57911	0.48;0.829	T	0.08932	-1.0698	10	0.12103	T	0.63	-19.2081	7.9456	0.29985	0.0:0.1735:0.6472:0.1793	.	1405;1338	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	T	1338;1405	ENSP00000334219:A1338T;ENSP00000251268:A1405T	ENSP00000251268:A1405T	A	+	1	0	MEGF8	47551818	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	4.566000	0.60843	2.412000	0.81896	0.563000	0.77884	GCC	.		0.677	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410	
MFSD11	79157	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	74774280	74774280	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr17:74774280C>A	ENST00000588460.1	+	13	3238	c.1196C>A	c.(1195-1197)gCa>gAa	p.A399E	MFSD11_ENST00000593181.1_Missense_Mutation_p.A347E|MFSD11_ENST00000355954.3_Missense_Mutation_p.A347E|MFSD11_ENST00000586622.1_Missense_Mutation_p.A399E|MFSD11_ENST00000336509.4_Missense_Mutation_p.A399E|MFSD11_ENST00000590514.1_Missense_Mutation_p.A399E|MFSD11_ENST00000590070.1_3'UTR	NM_001242534.1	NP_001229463.1	O43934	MFS11_HUMAN	major facilitator superfamily domain containing 11	399						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)	17						TCTATTTGCGCAGCCGTGGCA	0.493																																					p.A399E		.											.	MFSD11	91	0			c.C1196A						.						164.0	149.0	154.0					17																	74774280		2203	4300	6503	SO:0001583	missense	79157	exon13			TTTGCGCAGCCGT	BC002753	CCDS11750.1, CCDS56045.1	17q25.1	2012-03-09			ENSG00000092931	ENSG00000092931			25458	protein-coding gene	gene with protein product						9358160	Standard	NM_001242532		Approved	FLJ22196, FLJ20226	uc002jte.3	O43934		ENST00000588460.1:c.1196C>A	17.37:g.74774280C>A	ENSP00000464932:p.Ala399Glu	203.0	0.0		285.0	31.0	NM_001242532	O43442|Q9NXI5	Missense_Mutation	SNP	ENST00000588460.1	37	CCDS11750.1	.	.	.	.	.	.	.	.	.	.	C	36	5.697421	0.96802	.	.	ENSG00000092931	ENST00000336509;ENST00000355954	D;D	0.82167	-1.58;-1.58	6.07	6.07	0.98685	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.91573	0.7338	M	0.85630	2.765	0.80722	D	1	D;D	0.61080	0.989;0.988	P;P	0.61003	0.858;0.882	D	0.91194	0.4986	10	0.54805	T	0.06	-20.4795	20.2544	0.98414	0.0:1.0:0.0:0.0	.	347;399	O43934-2;O43934	.;MFS11_HUMAN	E	399;347	ENSP00000337240:A399E;ENSP00000348225:A347E	ENSP00000337240:A399E	A	+	2	0	MFSD11	72285875	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.711000	0.84669	2.885000	0.99019	0.655000	0.94253	GCA	.		0.493	MFSD11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451516.1	NM_024311	
MIA3	375056	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	1	222822189	222822189	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr1:222822189C>T	ENST00000344922.5	+	8	3653	c.3628C>T	c.(3628-3630)Caa>Taa	p.Q1210*	MIA3_ENST00000340535.7_Nonsense_Mutation_p.Q88*|MIA3_ENST00000344507.1_Intron|MIA3_ENST00000344441.6_Intron	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1210					chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		TAGAGTATATCAAGGTAAATC	0.264																																					p.Q1210X		.											.	MIA3	98	0			c.C3628T						.						159.0	153.0	155.0					1																	222822189		1788	4064	5852	SO:0001587	stop_gained	375056	exon8			GTATATCAAGGTA		CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"""C219 reactive peptide"", ""transport and golgi organization"""	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.3628C>T	1.37:g.222822189C>T	ENSP00000340900:p.Gln1210*	52.0	0.0		68.0	11.0	NM_198551	A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Nonsense_Mutation	SNP	ENST00000344922.5	37	CCDS41470.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	39|39	7.886492|7.886492	0.98542|0.98542	.|.	.|.	ENSG00000154305|ENSG00000154305	ENST00000344922;ENST00000340535|ENST00000354906	.|.	.|.	.|.	5.79|5.79	5.79|5.79	0.91817|0.91817	.|.	.|.	.|.	.|.	.|.	.|T	.|0.75004	.|0.3791	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.72481	.|-0.4280	.|4	0.06365|.	T|.	0.9|.	.|.	18.5719|18.5719	0.91138|0.91138	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	1210;88|792	.|.	ENSP00000345866:Q88X|.	Q|S	+|+	1|2	0|0	MIA3|MIA3	220888812|220888812	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.906000|0.906000	0.53458|0.53458	4.440000|4.440000	0.59975|0.59975	2.738000|2.738000	0.93877|0.93877	0.655000|0.655000	0.94253|0.94253	CAA|TCA	.		0.264	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	NM_198551	
MICAL3	57553	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	22	18347690	18347690	+	Silent	SNP	C	C	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr22:18347690C>T	ENST00000441493.2	-	19	2932	c.2580G>A	c.(2578-2580)gtG>gtA	p.V860V	MICAL3_ENST00000383094.3_Silent_p.V860V|MICAL3_ENST00000207726.7_Silent_p.V888V|MICAL3_ENST00000444520.1_Silent_p.V860V|MICAL3_ENST00000414725.2_Silent_p.V888V|MICAL3_ENST00000400561.2_Silent_p.V860V|MICAL3_ENST00000429452.1_Silent_p.V984V|MICAL3_ENST00000585038.1_Silent_p.V984V	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	860					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		TGGAGCTGGCCACGGCGTTGG	0.597																																					p.V984V		.											.	MICAL3	68	0			c.G2952A						.						95.0	92.0	93.0					22																	18347690		1568	3582	5150	SO:0001819	synonymous_variant	57553	exon23			GCTGGCCACGGCG	AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.2580G>A	22.37:g.18347690C>T		129.0	0.0		148.0	29.0	NM_001136004	B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Silent	SNP	ENST00000441493.2	37	CCDS46659.1																																																																																			.		0.597	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1		
MIER1	57708	hgsc.bcm.edu;broad.mit.edu	37	1	67436586	67436586	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr1:67436586G>A	ENST00000355356.3	+	8	858	c.709G>A	c.(709-711)Gat>Aat	p.D237N	MIER1_ENST00000357692.2_Missense_Mutation_p.D254N|MIER1_ENST00000355977.6_Missense_Mutation_p.D174N|MIER1_ENST00000401041.1_Missense_Mutation_p.D290N|MIER1_ENST00000371016.1_Missense_Mutation_p.D254N|MIER1_ENST00000401042.3_Missense_Mutation_p.D237N|MIER1_ENST00000371018.3_Missense_Mutation_p.D254N|MIER1_ENST00000371014.1_Missense_Mutation_p.D290N	NM_001077701.2|NM_001077704.2	NP_001071169.1|NP_001071172.1	Q8N108	MIER1_HUMAN	mesoderm induction early response 1, transcriptional regulator	237	ELM2. {ECO:0000255|PROSITE- ProRule:PRU00512}.|Interaction with HDAC1.			D -> G (in Ref. 4; CAH10526). {ECO:0000305}.	positive regulation of chromatin silencing (GO:0031937)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3)	15						AAGAACAGGTGATGAGAAGGG	0.363																																					p.D290N		.											.	MIER1	91	0			c.G868A						.						107.0	102.0	104.0					1																	67436586		1849	4107	5956	SO:0001583	missense	57708	exon9			ACAGGTGATGAGA		CCDS41347.1, CCDS41348.1, CCDS53325.1, CCDS53326.1, CCDS53327.1, CCDS53328.1, CCDS53329.1, CCDS53330.1, CCDS60163.1	1p31.2	2013-07-23	2013-07-23		ENSG00000198160	ENSG00000198160			29657	protein-coding gene	gene with protein product			"""mesoderm induction early response 1 homolog (Xenopus laevis)"""			12242014, 12482978	Standard	NM_020948		Approved	hMI-ER1, MI-ER1, KIAA1610	uc001dde.2	Q8N108	OTTHUMG00000009194	ENST00000355356.3:c.709G>A	1.37:g.67436586G>A	ENSP00000347514:p.Asp237Asn	136.0	0.0		77.0	5.0	NM_001077700	C9JFD4|Q08AE0|Q32NC4|Q5T104|Q5TAD1|Q5TAD2|Q5TAD4|Q5TAD5|Q6AHY8|Q86TB4|Q8N156|Q8N161|Q8NC37|Q8NES4|Q8NES5|Q8NES6|Q8WWG2|Q9HCG2	Missense_Mutation	SNP	ENST00000355356.3	37	CCDS41348.1	.	.	.	.	.	.	.	.	.	.	G	14.85	2.657597	0.47467	.	.	ENSG00000198160	ENST00000371017;ENST00000371018;ENST00000355977;ENST00000357692;ENST00000401041;ENST00000371016;ENST00000371014;ENST00000401042;ENST00000355356	T;T;T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91	5.52	5.52	0.82312	ELM2 domain (1);	0.089115	0.85682	D	0.000000	T	0.20129	0.0484	N	0.17379	0.485	0.58432	D	0.999997	B;P;P;P;P;P;P;B;B	0.46395	0.019;0.877;0.873;0.59;0.455;0.799;0.873;0.021;0.007	B;B;B;B;B;B;B;B;B	0.43360	0.016;0.417;0.385;0.223;0.111;0.214;0.298;0.016;0.024	T	0.02371	-1.1169	10	0.16896	T	0.51	-25.6678	19.4162	0.94700	0.0:0.0:1.0:0.0	.	254;254;237;237;174;261;254;290;290	Q5TAD2;Q32NC4;Q8N108-3;Q8N108-6;Q08AE0;Q8N108;Q8N108-10;Q5TAD5;Q5TAD4	.;.;.;.;.;MIER1_HUMAN;.;.;.	N	258;254;174;254;290;254;290;237;237	ENSP00000360057:D254N;ENSP00000348253:D174N;ENSP00000350321:D254N;ENSP00000383820:D290N;ENSP00000360055:D254N;ENSP00000360053:D290N;ENSP00000383821:D237N;ENSP00000347514:D237N	ENSP00000347514:D237N	D	+	1	0	MIER1	67209174	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.629000	0.83207	2.764000	0.94973	0.650000	0.86243	GAT	.		0.363	MIER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025491.2	NM_020948	
LINCMD1	101154644	broad.mit.edu;ucsc.edu;mdanderson.org	37	6	52009213	52009213	+	lincRNA	SNP	G	G	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr6:52009213G>A	ENST00000418518.2	-	0	924				MIR206_ENST00000384872.1_RNA																							ATGTAAGGAAGTGTGTGGTTT	0.532																																					.		.											.	.	.	0			.						.						88.0	87.0	87.0					6																	52009213		1568	3582	5150			406989	.			AAGGAAGTGTGTG																													6.37:g.52009213G>A		153.0	0.0		223.0	22.0	.		RNA	SNP	ENST00000418518.2	37																																																																																				.		0.532	MIR133BHG-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000040895.1		
FAM184A	79632	ucsc.edu;mdanderson.org	37	6	119390243	119390243	+	Intron	SNP	T	T	G			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr6:119390243T>G	ENST00000338891.7	-	1	603				FAM184A_ENST00000368475.4_Intron|MIR548B_ENST00000385247.1_RNA|FAM184A_ENST00000522284.1_Intron|FAM184A_ENST00000352896.5_Intron|FAM184A_ENST00000521531.1_Intron	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A							extracellular space (GO:0005615)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						gcaactgaggttcttgccatt	0.279																																					.		.											.	.	.	0			.						.						26.0	26.0	26.0					6																	119390243		1426	3278	4704	SO:0001627	intron_variant	693128	.			CTGAGGTTCTTGC	BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 60"""	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.159+9062A>C	6.37:g.119390243T>G		213.0	0.0		339.0	40.0	.	B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	RNA	SNP	ENST00000338891.7	37	CCDS43499.1																																																																																			.		0.279	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042009.3	NM_024581	
MLKL	197259	broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	74729411	74729411	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr16:74729411C>T	ENST00000308807.7	-	2	708	c.245G>A	c.(244-246)aGa>aAa	p.R82K	MLKL_ENST00000306247.7_Missense_Mutation_p.R82K	NM_152649.2	NP_689862.1			mixed lineage kinase domain-like											breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						GATATTGGATCTATTGCTGAA	0.493																																					p.R82K		.											.	MLKL	561	0			c.G245A						.						166.0	157.0	160.0					16																	74729411		2198	4300	6498	SO:0001583	missense	197259	exon2			TTGGATCTATTGC	AK091708	CCDS32487.1, CCDS45528.1	16q22.3	2008-02-05				ENSG00000168404			26617	protein-coding gene	gene with protein product		615153				12477932	Standard	NM_152649		Approved	FLJ34389	uc002fdb.2	Q8NB16		ENST00000308807.7:c.245G>A	16.37:g.74729411C>T	ENSP00000308351:p.Arg82Lys	235.0	1.0		189.0	33.0	NM_152649		Missense_Mutation	SNP	ENST00000308807.7	37	CCDS32487.1	.	.	.	.	.	.	.	.	.	.	C	1.092	-0.663676	0.03428	.	.	ENSG00000168404	ENST00000308807;ENST00000306247	T;T	0.77358	-1.09;2.95	4.63	-2.96	0.05547	.	0.797581	0.11591	N	0.548715	T	0.38026	0.1025	N	0.01874	-0.695	0.09310	N	1	B;B	0.14012	0.009;0.003	B;B	0.08055	0.003;0.001	T	0.41734	-0.9492	10	0.02654	T	1	-3.3981	1.1391	0.01762	0.1436:0.269:0.1479:0.4395	.	82;82	Q8NB16-2;Q8NB16	.;MLKL_HUMAN	K	82	ENSP00000308351:R82K;ENSP00000303118:R82K	ENSP00000303118:R82K	R	-	2	0	MLKL	73286912	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.046000	0.11983	-0.592000	0.05851	-1.358000	0.01219	AGA	.		0.493	MLKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436403.3	NM_152649	
MMP1	4312	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	102662135	102662135	+	Silent	SNP	C	C	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr11:102662135C>T	ENST00000315274.6	-	8	1192	c.1125G>A	c.(1123-1125)aaG>aaA	p.K375K	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	375					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|proteolysis (GO:0006508)|viral process (GO:0016032)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)	Marimastat(DB00786)	CATCGATATGCTTCACAGTTC	0.453																																					p.K375K		.											.	MMP1	229	0			c.G1125A						.						233.0	221.0	225.0					11																	102662135		2203	4299	6502	SO:0001819	synonymous_variant	4312	exon8			GATATGCTTCACA	X54925	CCDS8322.1	11q21-q22	2014-01-30	2005-08-08		ENSG00000196611	ENSG00000196611	3.4.24.7	"""Endogenous ligands"""	7155	protein-coding gene	gene with protein product		120353	"""matrix metalloproteinase 1 (interstitial collagenase)"""	CLG			Standard	NM_002421		Approved		uc001phi.2	P03956	OTTHUMG00000048192	ENST00000315274.6:c.1125G>A	11.37:g.102662135C>T		135.0	0.0		149.0	23.0	NM_002421	P08156	Silent	SNP	ENST00000315274.6	37	CCDS8322.1																																																																																			.		0.453	MMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109632.1	NM_002421	
KMT2A	4297	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	118374789	118374789	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr11:118374789G>A	ENST00000389506.5	+	27	8173	c.8173G>A	c.(8173-8175)Gag>Aag	p.E2725K	KMT2A_ENST00000354520.4_Missense_Mutation_p.E2687K|KMT2A_ENST00000534358.1_Missense_Mutation_p.E2728K			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	2725					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										TGATGGGACAGAGAGTGATAC	0.423																																					p.E2728K		.											.	MLL	1255	0			c.G8182A						.						65.0	61.0	62.0					11																	118374789		2200	4296	6496	SO:0001583	missense	4297	exon27			GGGACAGAGAGTG	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.8173G>A	11.37:g.118374789G>A	ENSP00000374157:p.Glu2725Lys	109.0	0.0		127.0	26.0	NM_001197104	E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	G	16.90	3.250792	0.59212	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	D;D;D	0.87966	-2.32;-2.32;-2.27	5.65	5.65	0.86999	.	0.049407	0.85682	D	0.000000	D	0.93015	0.7777	M	0.67569	2.06	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.75020	0.985;0.985	D	0.92890	0.6330	10	0.87932	D	0	.	19.9142	0.97043	0.0:0.0:1.0:0.0	.	2728;2725	E9PQG7;Q03164	.;MLL1_HUMAN	K	2728;2725;2687;1635	ENSP00000436786:E2728K;ENSP00000374157:E2725K;ENSP00000346516:E2687K	ENSP00000346516:E2687K	E	+	1	0	MLL	117879999	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.144000	0.94629	2.941000	0.99782	0.655000	0.94253	GAG	.		0.423	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933	
MORC1	27136	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	3	108833252	108833252	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr3:108833252G>A	ENST00000483760.1	-	2	141	c.98C>T	c.(97-99)gCt>gTt	p.A33V	MORC1_ENST00000232603.5_Missense_Mutation_p.A33V					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CAGCAATTCAGCCAGTGCTCC	0.348																																					p.A33V		.											.	MORC1	98	0			c.C98T						.						101.0	98.0	99.0					3																	108833252		2203	4300	6503	SO:0001583	missense	27136	exon2			AATTCAGCCAGTG	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.98C>T	3.37:g.108833252G>A	ENSP00000417282:p.Ala33Val	109.0	0.0		93.0	12.0	NM_014429		Missense_Mutation	SNP	ENST00000483760.1	37		.	.	.	.	.	.	.	.	.	.	G	22.3	4.265123	0.80358	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	D;D	0.95307	-3.67;-3.67	4.51	4.51	0.55191	ATPase-like, ATP-binding domain (3);	0.000000	0.46145	D	0.000312	D	0.96623	0.8898	M	0.75264	2.295	0.42169	D	0.991635	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96872	0.9640	10	0.87932	D	0	-14.6246	12.8941	0.58089	0.0:0.0:1.0:0.0	.	33;33	E7ERX1;Q86VD1	.;MORC1_HUMAN	V	33	ENSP00000232603:A33V;ENSP00000417282:A33V	ENSP00000232603:A33V	A	-	2	0	MORC1	110315942	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.459000	0.60102	2.478000	0.83669	0.563000	0.77884	GCT	.		0.348	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1		
MOSPD2	158747	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	14910893	14910893	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chrX:14910893A>G	ENST00000380492.3	+	3	216	c.128A>G	c.(127-129)gAt>gGt	p.D43G	MOSPD2_ENST00000482354.1_Missense_Mutation_p.D43G|MOSPD2_ENST00000495110.1_3'UTR	NM_001177475.1|NM_152581.3	NP_001170946.1|NP_689794.1	Q8NHP6	MSPD2_HUMAN	motile sperm domain containing 2	43						integral component of membrane (GO:0016021)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	Hepatocellular(33;0.183)					CTACAACAAGATGATAACTGG	0.343																																					p.D43G		.											.	MOSPD2	130	0			c.A128G						.						121.0	114.0	117.0					X																	14910893		2203	4300	6503	SO:0001583	missense	158747	exon3			AACAAGATGATAA	AL834345	CCDS14162.1	Xp22.31	2006-03-16			ENSG00000130150	ENSG00000130150			28381	protein-coding gene	gene with protein product						15533722	Standard	NM_152581		Approved	MGC26706	uc004cwi.3	Q8NHP6	OTTHUMG00000021170	ENST00000380492.3:c.128A>G	X.37:g.14910893A>G	ENSP00000369860:p.Asp43Gly	179.0	0.0		177.0	25.0	NM_152581	Q8N3H2|Q8NA83	Missense_Mutation	SNP	ENST00000380492.3	37	CCDS14162.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.203075	0.79127	.	.	ENSG00000130150	ENST00000380492	T	0.69806	-0.43	5.3	5.3	0.74995	Phosphatidylinositol transfer protein-like, N-terminal (1);	0.051223	0.85682	D	0.000000	T	0.80048	0.4552	M	0.72118	2.19	0.80722	D	1	D	0.76494	0.999	D	0.70487	0.969	T	0.82277	-0.0537	10	0.66056	D	0.02	.	14.3328	0.66569	1.0:0.0:0.0:0.0	.	43	Q8NHP6	MSPD2_HUMAN	G	43	ENSP00000369860:D43G	ENSP00000369860:D43G	D	+	2	0	MOSPD2	14820814	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	8.870000	0.92336	1.763000	0.52060	0.486000	0.48141	GAT	.		0.343	MOSPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055837.1	NM_152581	
MORC4	79710	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	106185319	106185319	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chrX:106185319C>A	ENST00000355610.4	-	16	2783	c.2509G>T	c.(2509-2511)Gct>Tct	p.A837S	MORC4_ENST00000255495.7_Missense_Mutation_p.A837S|MORC4_ENST00000535534.1_Missense_Mutation_p.A585S	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	837						nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						TGGAATTCAGCTTGGCGATAA	0.443																																					p.A837S		.											.	MORC4	131	0			c.G2509T						.						238.0	199.0	213.0					X																	106185319		2203	4300	6503	SO:0001583	missense	79710	exon16			ATTCAGCTTGGCG	AK021627	CCDS14525.2, CCDS48146.1	Xq22.3	2008-02-05	2005-06-15	2005-06-15	ENSG00000133131	ENSG00000133131			23485	protein-coding gene	gene with protein product			"""zinc finger, CW-type with coiled-coil domain 2"", ""zinc finger, CW type with coiled-coil domain 2"""	ZCWCC2		14607086	Standard	NM_024657		Approved	ZCW4, FLJ11565	uc004emp.4	Q8TE76	OTTHUMG00000022155	ENST00000355610.4:c.2509G>T	X.37:g.106185319C>A	ENSP00000347821:p.Ala837Ser	181.0	0.0		119.0	26.0	NM_001085354	A1YR23|A1YR24|H7BXF1|Q5JUK7|Q96MZ2|Q9HAI7	Missense_Mutation	SNP	ENST00000355610.4	37	CCDS14525.2	.	.	.	.	.	.	.	.	.	.	c	18.82	3.704564	0.68615	.	.	ENSG00000133131	ENST00000355610;ENST00000535534;ENST00000255495	T;T;T	0.53857	2.62;0.6;1.92	5.4	5.4	0.78164	.	0.206970	0.34802	N	0.003677	T	0.62502	0.2433	L	0.59436	1.845	0.33796	D	0.626066	D;D;D	0.69078	0.997;0.997;0.979	D;D;P	0.75020	0.985;0.985;0.581	T	0.62973	-0.6740	10	0.02654	T	1	-11.638	13.4865	0.61369	0.0:1.0:0.0:0.0	.	585;837;837	A1YR24;A1YR23;Q8TE76	.;.;MORC4_HUMAN	S	837;585;837	ENSP00000347821:A837S;ENSP00000440359:A585S;ENSP00000255495:A837S	ENSP00000255495:A837S	A	-	1	0	MORC4	106071975	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.282000	0.58971	2.250000	0.74265	0.455000	0.32223	GCT	.		0.443	MORC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057816.3	NM_024657	
MTNR1A	4543	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	187455096	187455096	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr4:187455096C>T	ENST00000307161.5	-	2	1001	c.800G>A	c.(799-801)aGc>aAc	p.S267N	RP11-215A19.2_ENST00000509111.1_Intron	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN	melatonin receptor 1A	267					circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|mating behavior (GO:0007617)|positive regulation of cGMP biosynthetic process (GO:0030828)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	hormone binding (GO:0042562)|melatonin receptor activity (GO:0008502)|organic cyclic compound binding (GO:0097159)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	AGGCACCATGCTGGCGGGGTC	0.502																																					p.S267N		.											.	MTNR1A	524	0			c.G800A						.						73.0	79.0	77.0					4																	187455096		2203	4300	6503	SO:0001583	missense	4543	exon2			ACCATGCTGGCGG		CCDS3848.1	4q35	2012-08-08				ENSG00000168412		"""GPCR / Class A : Melatonin receptors"""	7463	protein-coding gene	gene with protein product		600665				7558006	Standard	NM_005958		Approved	MEL-1A-R	uc003izd.1	P48039		ENST00000307161.5:c.800G>A	4.37:g.187455096C>T	ENSP00000302811:p.Ser267Asn	113.0	0.0		129.0	32.0	NM_005958	A0AVC5|B0M0L2	Missense_Mutation	SNP	ENST00000307161.5	37	CCDS3848.1	.	.	.	.	.	.	.	.	.	.	C	0.029	-1.347024	0.01266	.	.	ENSG00000168412	ENST00000307161	T	0.71934	-0.61	4.71	-3.51	0.04696	GPCR, rhodopsin-like superfamily (1);	1.129860	0.06353	N	0.710224	T	0.59115	0.2170	L	0.42581	1.335	0.09310	N	1	B	0.02656	0.0	B	0.12837	0.008	T	0.41270	-0.9518	10	0.23302	T	0.38	-4.4854	9.5902	0.39541	0.0:0.2529:0.4968:0.2503	.	267	P48039	MTR1A_HUMAN	N	267	ENSP00000302811:S267N	ENSP00000302811:S267N	S	-	2	0	MTNR1A	187692090	0.000000	0.05858	0.009000	0.14445	0.004000	0.04260	-0.404000	0.07205	-0.907000	0.03862	-1.224000	0.01588	AGC	.		0.502	MTNR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360189.1		
MUC16	94025	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	9049896	9049896	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr19:9049896T>C	ENST00000397910.4	-	5	31938	c.31735A>G	c.(31735-31737)Aga>Gga	p.R10579G		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10581	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACCGGACTTCTCTCTGCCCCA	0.488																																					p.R10579G		.											.	MUC16	566	0			c.A31735G						.						130.0	120.0	123.0					19																	9049896		1879	4105	5984	SO:0001583	missense	94025	exon5			GACTTCTCTCTGC	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.31735A>G	19.37:g.9049896T>C	ENSP00000381008:p.Arg10579Gly	213.0	1.0		299.0	54.0	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	4.892	0.165786	0.09339	.	.	ENSG00000181143	ENST00000397910	T	0.02890	4.12	2.88	0.777	0.18538	.	.	.	.	.	T	0.01695	0.0054	N	0.08118	0	.	.	.	B	0.13594	0.008	B	0.14023	0.01	T	0.37865	-0.9687	8	0.87932	D	0	.	4.6286	0.12489	0.0:0.2929:0.0:0.7071	.	10579	B5ME49	.	G	10579	ENSP00000381008:R10579G	ENSP00000381008:R10579G	R	-	1	2	MUC16	8910896	0.005000	0.15991	0.000000	0.03702	0.002000	0.02628	1.660000	0.37397	0.089000	0.17243	-0.484000	0.04775	AGA	.		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	9056445	9056445	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr19:9056445G>A	ENST00000397910.4	-	3	31204	c.31001C>T	c.(31000-31002)tCt>tTt	p.S10334F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10336	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAAGGTTGAAGAGGAGAATGG	0.517																																					p.S10334F		.											.	MUC16	566	0			c.C31001T						.						109.0	110.0	110.0					19																	9056445		2059	4200	6259	SO:0001583	missense	94025	exon3			GTTGAAGAGGAGA	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.31001C>T	19.37:g.9056445G>A	ENSP00000381008:p.Ser10334Phe	200.0	0.0		262.0	31.0	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	6.711	0.499943	0.12762	.	.	ENSG00000181143	ENST00000397910	T	0.02737	4.18	3.2	0.979	0.19745	.	.	.	.	.	T	0.02083	0.0065	N	0.24115	0.695	.	.	.	P	0.37101	0.582	B	0.34590	0.186	T	0.41179	-0.9523	8	0.87932	D	0	.	3.6769	0.08295	0.1346:0.0:0.6105:0.2549	.	10334	B5ME49	.	F	10334	ENSP00000381008:S10334F	ENSP00000381008:S10334F	S	-	2	0	MUC16	8917445	0.012000	0.17670	0.006000	0.13384	0.151000	0.21798	0.579000	0.23788	0.327000	0.23409	0.461000	0.40582	TCT	.		0.517	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC2	4583	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	1081136	1081136	+	Missense_Mutation	SNP	G	G	A	rs555224884		TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr11:1081136G>A	ENST00000441003.2	+	11	1459	c.1432G>A	c.(1432-1434)Gtg>Atg	p.V478M	MUC2_ENST00000359061.5_Missense_Mutation_p.V478M	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	478	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CCTGCCCCACGTGACCGGTGA	0.652													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16186	0.0		0.0	False		,,,				2504	0.0				p.V478M		.											.	MUC2	90	0			c.G1432A						.						33.0	38.0	36.0					11																	1081136		1979	4161	6140	SO:0001583	missense	4583	exon11			CCCCACGTGACCG	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.1432G>A	11.37:g.1081136G>A	ENSP00000415183:p.Val478Met	96.0	0.0		143.0	27.0	NM_002457	Q14878	Missense_Mutation	SNP	ENST00000441003.2	37		.	.	.	.	.	.	.	.	.	.	G	14.51	2.558420	0.45590	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.59906	0.23;0.23	3.64	1.6	0.23607	.	1.376200	0.05521	U	0.562127	T	0.65091	0.2658	M	0.62723	1.935	0.21697	N	0.999588	P	0.48764	0.915	P	0.53760	0.734	T	0.54289	-0.8316	10	0.33940	T	0.23	.	8.1327	0.31037	0.0988:0.1638:0.7374:0.0	.	478	E7EUV1	.	M	478	ENSP00000415183:V478M;ENSP00000351956:V478M	ENSP00000351956:V478M	V	+	1	0	MUC2	1071136	0.221000	0.23642	0.987000	0.45799	0.798000	0.45092	1.379000	0.34340	1.878000	0.54408	0.491000	0.48974	GTG	.		0.652	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457	
MUC4	4585	broad.mit.edu;bcgsc.ca	37	3	195507288	195507288	+	Silent	SNP	T	T	C			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr3:195507288T>C	ENST00000463781.3	-	2	11622	c.11163A>G	c.(11161-11163)gtA>gtG	p.V3721V	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Silent_p.V3721V	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GACCTGTAGATACTGAGGAAG	0.572																																					p.V3721V		.											.	MUC4	90	0			c.A11163G						.						78.0	74.0	75.0					3																	195507288		657	1591	2248	SO:0001819	synonymous_variant	4585	exon2			TGTAGATACTGAG	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.11163A>G	3.37:g.195507288T>C		559.0	1.0		507.0	49.0	NM_018406	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	ENST00000463781.3	37	CCDS54700.1																																																																																			.		0.572	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
MUSK	4593	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	113509954	113509954	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr9:113509954G>A	ENST00000374448.4	+	7	921	c.787G>A	c.(787-789)Gac>Aac	p.D263N	MUSK_ENST00000189978.5_Missense_Mutation_p.D263N|MUSK_ENST00000416899.2_Missense_Mutation_p.D263N	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	263	Ig-like 3.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|neuromuscular junction development (GO:0007528)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein geranylgeranylation (GO:2000541)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						GAGTGTGAAAGACCGAGTGAT	0.423																																					p.D273N		.											.	MUSK	1379	0			c.G817A						.						179.0	167.0	170.0					9																	113509954		1921	4138	6059	SO:0001583	missense	4593	exon8			GTGAAAGACCGAG	AF006464	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			ENSG00000030304	ENSG00000030304		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7525	protein-coding gene	gene with protein product		601296				7546737	Standard	NM_005592		Approved		uc022blv.1	O15146	OTTHUMG00000020485	ENST00000374448.4:c.787G>A	9.37:g.113509954G>A	ENSP00000363571:p.Asp263Asn	116.0	0.0		126.0	32.0	NM_001166280	Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Missense_Mutation	SNP	ENST00000374448.4	37	CCDS48005.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.167133	0.57476	.	.	ENSG00000030304	ENST00000189978;ENST00000374448;ENST00000543335;ENST00000374447;ENST00000545907;ENST00000416899	T	0.31510	1.49	5.78	4.89	0.63831	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.049251	0.85682	D	0.000000	T	0.37210	0.0995	N	0.22421	0.69	0.80722	D	1	D;D	0.69078	0.993;0.997	D;D	0.67382	0.951;0.93	T	0.09250	-1.0683	10	0.25106	T	0.35	.	12.7894	0.57523	0.0795:0.0:0.9205:0.0	.	263;273	O15146;F5H6T2	MUSK_HUMAN;.	N	263;263;263;273;273;263	ENSP00000363571:D263N	ENSP00000189978:D263N	D	+	1	0	MUSK	112549775	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.003000	0.70701	1.446000	0.47643	0.655000	0.94253	GAC	.		0.423	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			
MYH15	22989	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	3	108178291	108178291	+	Missense_Mutation	SNP	G	G	T	rs372985354		TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr3:108178291G>T	ENST00000273353.3	-	19	2054	c.1998C>A	c.(1996-1998)aaC>aaA	p.N666K	MYH15_ENST00000495753.2_5'UTR	NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	666	Myosin motor.					cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						ATTTATTCAGGTTTTCCTAAA	0.328																																					p.N666K		.											.	MYH15	73	0			c.C1998A						.						91.0	84.0	86.0					3																	108178291		1830	4079	5909	SO:0001583	missense	22989	exon19			ATTCAGGTTTTCC	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.1998C>A	3.37:g.108178291G>T	ENSP00000273353:p.Asn666Lys	61.0	0.0		72.0	6.0	NM_014981		Missense_Mutation	SNP	ENST00000273353.3	37	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	G	19.02	3.746075	0.69418	.	.	ENSG00000144821	ENST00000273353	T	0.71817	-0.6	5.67	0.301	0.15781	Myosin head, motor domain (2);	.	.	.	.	T	0.79902	0.4526	H	0.95294	3.65	0.33015	D	0.528001	P	0.45957	0.869	P	0.49561	0.615	T	0.80612	-0.1305	9	0.87932	D	0	.	4.0982	0.10002	0.532:0.0:0.2831:0.1848	.	666	Q9Y2K3	MYH15_HUMAN	K	666	ENSP00000273353:N666K	ENSP00000273353:N666K	N	-	3	2	MYH15	109660981	0.997000	0.39634	0.990000	0.47175	0.974000	0.67602	0.654000	0.24918	0.344000	0.23847	0.655000	0.94253	AAC	.		0.328	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988	
MYO1B	4430	broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	192228452	192228452	+	Splice_Site	SNP	A	A	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	A	A	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr2:192228452A>T	ENST00000392318.3	+	10	1012		c.e10-1		MYO1B_ENST00000339514.4_Splice_Site|MYO1B_ENST00000392316.1_Splice_Site|MYO1B_ENST00000304164.4_Splice_Site	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB						actin filament bundle assembly (GO:0051017)|actin filament organization (GO:0007015)|actin filament-based movement (GO:0030048)|metabolic process (GO:0008152)|post-Golgi vesicle-mediated transport (GO:0006892)	actin filament (GO:0005884)|brush border (GO:0005903)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			TTCTCTCCCCAGAATGCCATG	0.378																																					.		.											.	MYO1B	238	0			c.766-2A>T						.						98.0	94.0	95.0					2																	192228452		2203	4300	6503	SO:0001630	splice_region_variant	4430	exon10			CTCCCCAGAATGC	L29138	CCDS2311.1, CCDS46477.1	2q12-q34	2011-09-27			ENSG00000128641	ENSG00000128641		"""Myosins / Myosin superfamily : Class I"""	7596	protein-coding gene	gene with protein product		606537				8022818, 8449985	Standard	NM_012223		Approved	myr1	uc010fsg.2	O43795	OTTHUMG00000132718	ENST00000392318.3:c.766-1A>T	2.37:g.192228452A>T		79.0	1.0		81.0	24.0	NM_012223	O43794|Q7Z6L5	Splice_Site	SNP	ENST00000392318.3	37	CCDS46477.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.617422	0.87359	.	.	ENSG00000128641	ENST00000339514;ENST00000439452;ENST00000392318;ENST00000304164;ENST00000451437;ENST00000392316	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.755	0.69557	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MYO1B	191936697	1.000000	0.71417	0.993000	0.49108	0.984000	0.73092	8.881000	0.92415	2.222000	0.72286	0.533000	0.62120	.	.		0.378	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334774.1	NM_012223	Intron
MYOCD	93649	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	17	12666558	12666558	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr17:12666558A>G	ENST00000343344.4	+	13	2414	c.2414A>G	c.(2413-2415)gAg>gGg	p.E805G	RP11-1090M7.1_ENST00000584772.1_RNA|MYOCD_ENST00000425538.1_Missense_Mutation_p.E853G			Q8IZQ8	MYCD_HUMAN	myocardin	805					cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		GACAGTGATGAGCATCTTGAA	0.498																																					p.E853G		.											.	MYOCD	93	0			c.A2558G						.						98.0	97.0	97.0					17																	12666558		2203	4300	6503	SO:0001583	missense	93649	exon14			GTGATGAGCATCT	AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.2414A>G	17.37:g.12666558A>G	ENSP00000341835:p.Glu805Gly	155.0	0.0		194.0	124.0	NM_001146312	Q5UBU5|Q8N7Q1	Missense_Mutation	SNP	ENST00000343344.4	37	CCDS11163.1	.	.	.	.	.	.	.	.	.	.	A	16.35	3.097201	0.56075	.	.	ENSG00000141052	ENST00000395982;ENST00000425538;ENST00000343344;ENST00000443061	T;T	0.42513	0.98;0.97	5.78	5.78	0.91487	.	0.494651	0.23720	N	0.045231	T	0.30978	0.0782	L	0.39898	1.24	0.80722	D	1	B;B;B	0.09022	0.002;0.0;0.0	B;B;B	0.06405	0.001;0.002;0.001	T	0.15263	-1.0443	10	0.23891	T	0.37	-34.3016	7.5161	0.27602	0.846:0.0:0.154:0.0	.	529;853;805	E9PEP9;Q8IZQ8-3;Q8IZQ8	.;.;MYCD_HUMAN	G	529;853;805;515	ENSP00000341835:E805G;ENSP00000400148:E515G	ENSP00000341835:E805G	E	+	2	0	MYOCD	12607283	0.446000	0.25665	0.994000	0.49952	0.968000	0.65278	2.469000	0.45110	2.333000	0.79357	0.533000	0.62120	GAG	.		0.498	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604	
NAALAD2	10003	broad.mit.edu;ucsc.edu	37	11	89896533	89896533	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr11:89896533C>G	ENST00000534061.1	+	10	1361	c.1131C>G	c.(1129-1131)gaC>gaG	p.D377E	NAALAD2_ENST00000525171.1_Missense_Mutation_p.D284E|NAALAD2_ENST00000321955.4_Missense_Mutation_p.D344E|NAALAD2_ENST00000375944.3_Intron	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	377	NAALADase.				neurotransmitter catabolic process (GO:0042135)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|N-formylglutamate deformylase activity (GO:0050129)|serine-type peptidase activity (GO:0008236)	p.D377E(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				GAGCTATTGACCCAACCAGTG	0.413																																					p.D377E		.											.	NAALAD2	92	1	Substitution - Missense(1)	lung(1)	c.C1131G						.						118.0	126.0	123.0					11																	89896533		2201	4299	6500	SO:0001583	missense	10003	exon10			TATTGACCCAACC	AJ012370	CCDS8288.1, CCDS73364.1	11q14.3-q21	2011-08-16			ENSG00000077616	ENSG00000077616	3.4.17.21		14526	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase III"""	611636				10085079	Standard	NM_005467		Approved	NAALADASE2, NAADALASE2, GPCIII	uc001pdf.4	Q9Y3Q0	OTTHUMG00000166368	ENST00000534061.1:c.1131C>G	11.37:g.89896533C>G	ENSP00000432481:p.Asp377Glu	67.0	1.0		74.0	10.0	NM_005467	B3KQR4|Q4KKV4|Q4VAM9	Missense_Mutation	SNP	ENST00000534061.1	37	CCDS8288.1	.	.	.	.	.	.	.	.	.	.	C	15.20	2.761927	0.49468	.	.	ENSG00000077616	ENST00000534061;ENST00000321955;ENST00000525171	D;D;D	0.90844	-2.74;-2.74;-2.74	5.51	2.53	0.30540	Peptidase M28 (1);	0.000000	0.85682	D	0.000000	D	0.95014	0.8386	M	0.89715	3.055	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.93788	0.7090	9	.	.	.	-20.3126	7.9396	0.29950	0.0:0.6005:0.0:0.3995	.	377;284	Q9Y3Q0;E9PKX5	NALD2_HUMAN;.	E	377;344;284	ENSP00000432481:D377E;ENSP00000320083:D344E;ENSP00000435249:D284E	.	D	+	3	2	NAALAD2	89536181	0.980000	0.34600	1.000000	0.80357	0.996000	0.88848	0.098000	0.15189	0.755000	0.32990	0.591000	0.81541	GAC	.		0.413	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389424.2	NM_005467	
NAF1	92345	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	164061471	164061471	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr4:164061471T>C	ENST00000274054.2	-	5	975	c.782A>G	c.(781-783)cAc>cGc	p.H261R	NAF1_ENST00000509434.1_5'UTR|NAF1_ENST00000422287.2_Missense_Mutation_p.H261R	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	261					pseudouridine synthesis (GO:0001522)|ribosome biogenesis (GO:0042254)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				ACTCTCAATGTGATCTGAAGA	0.299																																					p.H261R		.											.	NAF1	70	0			c.A782G						.						84.0	92.0	90.0					4																	164061471		2203	4292	6495	SO:0001583	missense	92345	exon5			TCAATGTGATCTG		CCDS3803.1, CCDS47159.1	4q32.2	2013-03-05	2013-03-05			ENSG00000145414			25126	protein-coding gene	gene with protein product			"""nuclear assembly factor 1 homolog (S. cerevisiae)"""			16618814, 16601202	Standard	NM_138386		Approved		uc003iqj.3	Q96HR8		ENST00000274054.2:c.782A>G	4.37:g.164061471T>C	ENSP00000274054:p.His261Arg	52.0	0.0		55.0	10.0	NM_138386	D3DP28|E9PAZ2	Missense_Mutation	SNP	ENST00000274054.2	37	CCDS3803.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.311775	0.81358	.	.	ENSG00000145414	ENST00000422287;ENST00000274054	T;T	0.32515	1.48;1.45	5.68	5.68	0.88126	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.235594	0.43747	D	0.000528	T	0.47002	0.1422	M	0.65975	2.015	0.46458	D	0.999053	P;D	0.54047	0.897;0.964	P;P	0.57057	0.498;0.812	T	0.33317	-0.9873	10	0.21540	T	0.41	-15.0885	15.1134	0.72380	0.0:0.0:0.0:1.0	.	261;261	E9PAZ2;Q96HR8	.;NAF1_HUMAN	R	261	ENSP00000408963:H261R;ENSP00000274054:H261R	ENSP00000274054:H261R	H	-	2	0	NAF1	164280921	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.880000	0.75578	2.175000	0.68902	0.533000	0.62120	CAC	.		0.299	NAF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364684.2	NM_138386	
NAV1	89796	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	201757647	201757647	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr1:201757647C>T	ENST00000367296.4	+	10	3467	c.3047C>T	c.(3046-3048)cCc>cTc	p.P1016L	NAV1_ENST00000469130.1_3'UTR|NAV1_ENST00000367295.1_Missense_Mutation_p.P625L|NAV1_ENST00000367300.3_Intron|NAV1_ENST00000295624.6_Missense_Mutation_p.P1016L|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367302.1_Intron|NAV1_ENST00000367297.4_Missense_Mutation_p.P1016L	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1016					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						AACAGCATCCCCACCCACGAG	0.637																																					p.P1016L		.											.	NAV1	228	0			c.C3047T						.						115.0	112.0	113.0					1																	201757647		2203	4300	6503	SO:0001583	missense	89796	exon10			GCATCCCCACCCA	AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.3047C>T	1.37:g.201757647C>T	ENSP00000356265:p.Pro1016Leu	146.0	0.0		250.0	14.0	NM_020443	A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Missense_Mutation	SNP	ENST00000367296.4	37	CCDS1414.2	.	.	.	.	.	.	.	.	.	.	C	27.7	4.858535	0.91433	.	.	ENSG00000134369	ENST00000367296;ENST00000295624;ENST00000367297;ENST00000391966;ENST00000367295	T;T;T;T	0.10763	2.84;2.85;2.91;2.86	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.35158	0.0922	M	0.72118	2.19	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.994;0.996;0.999	T	0.05468	-1.0883	10	0.87932	D	0	-32.9317	18.7921	0.91978	0.0:1.0:0.0:0.0	.	1016;625;1016;524;1016	Q8NEY1-6;Q8NEY1-5;Q8NEY1;A8MYI2;Q8NEY1-3	.;.;NAV1_HUMAN;.;.	L	1016;1016;1016;524;625	ENSP00000356265:P1016L;ENSP00000295624:P1016L;ENSP00000356266:P1016L;ENSP00000356264:P625L	ENSP00000295624:P1016L	P	+	2	0	NAV1	200024270	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.744000	0.85034	2.526000	0.85167	0.561000	0.74099	CCC	.		0.637	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	NM_020443	
NBAS	51594	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	15307372	15307372	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr2:15307372T>A	ENST00000281513.5	-	52	6941	c.6916A>T	c.(6916-6918)Act>Tct	p.T2306S	NBAS_ENST00000441750.1_Missense_Mutation_p.T2186S	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	2306					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TAGAAGGGAGTGGAGACACAC	0.552																																					p.T2306S		.											.	NBAS	94	0			c.A6916T						.						81.0	73.0	76.0					2																	15307372		2203	4300	6503	SO:0001583	missense	51594	exon52			AGGGAGTGGAGAC	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.6916A>T	2.37:g.15307372T>A	ENSP00000281513:p.Thr2306Ser	180.0	0.0		213.0	23.0	NM_015909	O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	CCDS1685.1	.	.	.	.	.	.	.	.	.	.	T	16.04	3.010555	0.54361	.	.	ENSG00000151779	ENST00000441750;ENST00000281513;ENST00000433283	T;T	0.30182	1.54;1.54	5.46	5.46	0.80206	.	0.048354	0.85682	D	0.000000	T	0.48892	0.1525	M	0.71581	2.175	0.53688	D	0.999974	D;P	0.57571	0.98;0.489	P;B	0.55455	0.776;0.128	T	0.53725	-0.8398	10	0.87932	D	0	.	14.7106	0.69229	0.0:0.0:0.0:1.0	.	2186;2306	A2RRP1-2;A2RRP1	.;NBAS_HUMAN	S	2186;2306;119	ENSP00000413201:T2186S;ENSP00000281513:T2306S	ENSP00000281513:T2306S	T	-	1	0	NBAS	15224823	1.000000	0.71417	0.740000	0.30986	0.216000	0.24613	5.802000	0.69122	2.062000	0.61559	0.533000	0.62120	ACT	.		0.552	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909	
NES	10763	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	156639411	156639411	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr1:156639411C>T	ENST00000368223.3	-	4	4701	c.4569G>A	c.(4567-4569)atG>atA	p.M1523I		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1523	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTGCATCCTCCATCCCACTGG	0.577																																					p.M1523I		.											.	NES	520	0			c.G4569A						.						74.0	66.0	69.0					1																	156639411		2203	4300	6503	SO:0001583	missense	10763	exon4			ATCCTCCATCCCA	X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"""Intermediate filaments type IV"""	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.4569G>A	1.37:g.156639411C>T	ENSP00000357206:p.Met1523Ile	133.0	0.0		297.0	60.0	NM_006617	O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	ENST00000368223.3	37	CCDS1151.1	.	.	.	.	.	.	.	.	.	.	C	5.254	0.232304	0.09969	.	.	ENSG00000132688	ENST00000368223	D	0.84298	-1.83	4.56	-2.47	0.06442	.	.	.	.	.	T	0.53769	0.1817	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.49380	-0.8946	9	0.72032	D	0.01	.	5.5637	0.17158	0.1198:0.5102:0.0:0.37	.	1523	P48681	NEST_HUMAN	I	1523	ENSP00000357206:M1523I	ENSP00000357206:M1523I	M	-	3	0	NES	154906035	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.449000	0.06812	-0.543000	0.06240	0.313000	0.20887	ATG	.		0.577	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617	
NES	10763	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	1	156641300	156641300	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr1:156641300A>T	ENST00000368223.3	-	4	2812	c.2680T>A	c.(2680-2682)Tct>Act	p.S894T		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	894	Tail.			QGAMNPLEKEIQEPLESVEVNQETFRLLEEENQESLRSLGA WNLENLRSPEE -> KSGGNESSRKGNSRTTGVCGSEPRDI QTPGRGESGIIEISGSMEPGEFEISRG (in Ref. 1; CAA46780). {ECO:0000305}.	brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCTCCCAGAGATCTCAATGAT	0.458																																					p.S894T		.											.	NES	520	0			c.T2680A						.						65.0	69.0	68.0					1																	156641300		2203	4300	6503	SO:0001583	missense	10763	exon4			CCAGAGATCTCAA	X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"""Intermediate filaments type IV"""	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.2680T>A	1.37:g.156641300A>T	ENSP00000357206:p.Ser894Thr	129.0	0.0		204.0	17.0	NM_006617	O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	ENST00000368223.3	37	CCDS1151.1	.	.	.	.	.	.	.	.	.	.	A	15.67	2.903430	0.52333	.	.	ENSG00000132688	ENST00000368223	D	0.90732	-2.72	5.16	-1.46	0.08800	.	.	.	.	.	D	0.82944	0.5147	M	0.65498	2.005	0.09310	N	1	P	0.47409	0.895	P	0.46975	0.533	T	0.75709	-0.3223	9	0.72032	D	0.01	.	5.6531	0.17627	0.2996:0.4436:0.2568:0.0	.	894	P48681	NEST_HUMAN	T	894	ENSP00000357206:S894T	ENSP00000357206:S894T	S	-	1	0	NES	154907924	0.000000	0.05858	0.003000	0.11579	0.012000	0.07955	-0.444000	0.06854	-0.270000	0.09285	-0.371000	0.07208	TCT	.		0.458	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617	
NEU1	4758	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	31827993	31827993	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr6:31827993T>C	ENST00000375631.4	-	5	976	c.847A>G	c.(847-849)Aac>Gac	p.N283D		NM_000434.3	NP_000425.1	Q99519	NEUR1_HUMAN	sialidase 1 (lysosomal sialidase)	283					glycosphingolipid metabolic process (GO:0006687)|lipid catabolic process (GO:0016042)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)|exo-alpha-sialidase activity (GO:0004308)			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10					Oseltamivir(DB00198)	TGGTAGTTGTTCTGGTTTCGG	0.577																																					p.N283D		.											.	NEU1	91	0			c.A847G						.						88.0	71.0	77.0					6																	31827993		1511	2709	4220	SO:0001583	missense	4758	exon5			AGTTGTTCTGGTT	AF040958	CCDS4723.1	6p21	2012-10-02			ENSG00000204386	ENSG00000204386	3.2.1.18		7758	protein-coding gene	gene with protein product		608272		NEU		9054950	Standard	NM_000434		Approved		uc003nxq.4	Q99519	OTTHUMG00000031284	ENST00000375631.4:c.847A>G	6.37:g.31827993T>C	ENSP00000364782:p.Asn283Asp	219.0	0.0		312.0	39.0	NM_000434		Missense_Mutation	SNP	ENST00000375631.4	37	CCDS4723.1	.	.	.	.	.	.	.	.	.	.	T	13.24	2.178532	0.38511	.	.	ENSG00000204386	ENST00000375631	D	0.83591	-1.74	5.1	5.1	0.69264	Neuraminidase (2);	0.047002	0.85682	D	0.000000	T	0.73377	0.3579	L	0.39245	1.2	0.45183	D	0.998191	P	0.51147	0.942	P	0.54965	0.765	T	0.71307	-0.4632	10	0.13470	T	0.59	-18.8045	8.4812	0.33043	0.1729:0.0:0.0:0.8271	.	283	Q99519	NEUR1_HUMAN	D	283	ENSP00000364782:N283D	ENSP00000364782:N283D	N	-	1	0	NEU1	31935972	1.000000	0.71417	1.000000	0.80357	0.620000	0.37586	5.374000	0.66167	2.270000	0.75569	0.460000	0.39030	AAC	.		0.577	NEU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076616.2		
NLRP7	199713	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	55453072	55453072	+	Missense_Mutation	SNP	G	G	A	rs142163492		TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr19:55453072G>A	ENST00000590030.1	-	1	48	c.8C>T	c.(7-9)tCg>tTg	p.S3L	NLRP7_ENST00000592784.1_Missense_Mutation_p.S3L|NLRP7_ENST00000446217.1_Missense_Mutation_p.S31L|NLRP7_ENST00000588756.1_Missense_Mutation_p.S3L|NLRP7_ENST00000448121.2_Missense_Mutation_p.S3L|NLRP7_ENST00000340844.2_Missense_Mutation_p.S3L|NLRP7_ENST00000328092.5_Missense_Mutation_p.S3L			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	3	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.						ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TAGCTGGGGCGATGTCATAGT	0.458																																					p.S3L		.											.	NLRP7	291	0			c.C8T						.	G	LEU/SER,LEU/SER,LEU/SER	0,4406		0,0,2203	33.0	34.0	34.0		8,8,8	0.5	0.0	19	dbSNP_134	34	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense	NLRP7	NM_001127255.1,NM_139176.3,NM_206828.3	145,145,145	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign,benign,benign	3/1038,3/1010,3/981	55453072	2,13004	2203	4300	6503	SO:0001583	missense	199713	exon2			TGGGGCGATGTCA	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.8C>T	19.37:g.55453072G>A	ENSP00000465520:p.Ser3Leu	75.0	0.0		93.0	9.0	NM_001127255	E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	ENST00000590030.1	37	CCDS33109.1	.	.	.	.	.	.	.	.	.	.	G	11.52	1.664353	0.29604	0.0	2.33E-4	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217;ENST00000399724	T;T;T;T	0.79033	-1.11;-1.11;-1.19;-1.23	1.53	0.467	0.16721	Pyrin (1);DEATH-like (1);	.	.	.	.	T	0.65217	0.2670	L	0.43152	1.355	0.09310	N	1	B;B;B;B	0.13145	0.004;0.004;0.004;0.007	B;B;B;B	0.04013	0.0;0.0;0.0;0.001	T	0.53099	-0.8486	9	0.42905	T	0.14	.	4.1013	0.10015	0.2269:0.0:0.7731:0.0	.	31;3;3;3	E7EPM2;Q32MH9;Q8WX94;Q8WX94-2	.;.;NALP7_HUMAN;.	L	3;3;3;31;3	ENSP00000329568:S3L;ENSP00000409137:S3L;ENSP00000339491:S3L;ENSP00000414273:S31L	ENSP00000329568:S3L	S	-	2	0	NLRP7	60144884	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.502000	0.22594	0.197000	0.20387	-0.657000	0.03884	TCG	G|1.000;A|0.000		0.458	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176	
NLRP4	147945	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	56369470	56369470	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr19:56369470G>T	ENST00000301295.6	+	3	1133	c.711G>T	c.(709-711)caG>caT	p.Q237H	NLRP4_ENST00000346986.5_Missense_Mutation_p.Q237H|NLRP4_ENST00000587891.1_Missense_Mutation_p.Q162H	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	237	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		AAGAGCTGCAGGGCGGCTTGA	0.547																																					p.Q237H		.											.	NLRP4	216	0			c.G711T						.						81.0	83.0	82.0					19																	56369470		2203	4300	6503	SO:0001583	missense	147945	exon3			GCTGCAGGGCGGC	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.711G>T	19.37:g.56369470G>T	ENSP00000301295:p.Gln237His	127.0	0.0		189.0	33.0	NM_134444	Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	G	10.57	1.387734	0.25031	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	T;T	0.78707	-1.2;-1.2	4.1	-7.69	0.01263	NACHT nucleoside triphosphatase (1);	.	.	.	.	T	0.65450	0.2692	L	0.27053	0.805	0.09310	N	1	B;B;B	0.25667	0.04;0.032;0.131	B;B;B	0.33196	0.013;0.099;0.159	T	0.57831	-0.7743	9	0.48119	T	0.1	.	13.3597	0.60648	0.1834:0.1283:0.6884:0.0	.	237;162;237	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	H	237	ENSP00000301295:Q237H;ENSP00000344787:Q237H	ENSP00000301295:Q237H	Q	+	3	2	NLRP4	61061282	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-5.986000	0.00087	-2.061000	0.00892	-0.302000	0.09304	CAG	.		0.547	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444	
NMUR2	56923	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	151775082	151775082	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr5:151775082C>G	ENST00000255262.3	-	3	1040	c.875G>C	c.(874-876)aGc>aCc	p.S292T	NMUR2_ENST00000518933.1_5'UTR	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	292					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|arachidonic acid secretion (GO:0050482)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell-cell signaling (GO:0007267)|central nervous system development (GO:0007417)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|feeding behavior (GO:0007631)|grooming behavior (GO:0007625)|inositol phosphate-mediated signaling (GO:0048016)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|reduction of food intake in response to dietary excess (GO:0002023)|regulation of smooth muscle contraction (GO:0006940)|response to pain (GO:0048265)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|GTP binding (GO:0005525)|intracellular calcium activated chloride channel activity (GO:0005229)|neuromedin U binding (GO:0042924)|neuromedin U receptor activity (GO:0001607)			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			CTCCACAAAGCTGAAGAAGAG	0.473																																					p.S292T		.											.	NMUR2	526	0			c.G875C						.						158.0	137.0	144.0					5																	151775082		2203	4300	6503	SO:0001583	missense	56923	exon3			ACAAAGCTGAAGA	AF242874	CCDS4321.1	5q33.1	2012-08-08		2004-05-28	ENSG00000132911	ENSG00000132911		"""GPCR / Class A : Neuromedin U receptors"""	16454	protein-coding gene	gene with protein product		605108		NMU2R		8940772, 10894543	Standard	NM_020167		Approved		uc003luv.2	Q9GZQ4	OTTHUMG00000130131	ENST00000255262.3:c.875G>C	5.37:g.151775082C>G	ENSP00000255262:p.Ser292Thr	296.0	0.0		322.0	57.0	NM_020167	Q7LC54|Q96AM5|Q9NRA6	Missense_Mutation	SNP	ENST00000255262.3	37	CCDS4321.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.805392	0.50315	.	.	ENSG00000132911	ENST00000255262	T	0.36699	1.24	5.8	4.93	0.64822	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.62986	0.2473	M	0.84585	2.705	0.54753	D	0.999982	D	0.76494	0.999	D	0.76575	0.988	T	0.67530	-0.5647	10	0.48119	T	0.1	-26.0049	13.8172	0.63299	0.0:0.9271:0.0:0.0728	.	292	Q9GZQ4	NMUR2_HUMAN	T	292	ENSP00000255262:S292T	ENSP00000255262:S292T	S	-	2	0	NMUR2	151755275	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.133000	0.77259	1.451000	0.47736	0.655000	0.94253	AGC	.		0.473	NMUR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252439.1	NM_020167	
NOS3	4846	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	150698351	150698351	+	Silent	SNP	C	C	T	rs534664057		TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr7:150698351C>T	ENST00000484524.1	+	10	1266	c.1266C>T	c.(1264-1266)gcC>gcT	p.A422A	NOS3_ENST00000467517.1_Silent_p.A422A|NOS3_ENST00000297494.3_Silent_p.A422A|NOS3_ENST00000461406.1_Silent_p.A216A	NM_001160111.1	NP_001153583.1	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACCACCACGCCGCCACGGCCT	0.637													C|||	1	0.000199681	0.0	0.0	5008	,	,		16148	0.0		0.0	False		,,,				2504	0.001				p.A422A		.											.	NOS3	1011	0			c.C1266T						.						73.0	77.0	76.0					7																	150698351		2203	4300	6503	SO:0001819	synonymous_variant	4846	exon10			CCACGCCGCCACG		CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"""endothelial nitric oxide synthase"""	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000484524.1:c.1266C>T	7.37:g.150698351C>T		88.0	0.0		96.0	18.0	NM_001160111	Q495E5	Silent	SNP	ENST00000484524.1	37	CCDS55182.1																																																																																			.		0.637	NOS3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351550.1	NM_000603	
NOTCH4	4855	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	32188291	32188291	+	Silent	SNP	T	T	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr6:32188291T>A	ENST00000375023.3	-	6	1188	c.1050A>T	c.(1048-1050)acA>acT	p.T350T		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	350	EGF-like 8; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CCTCACAGCTTGTGCCGCCCC	0.617																																					p.T350T		.											.	NOTCH4	1321	0			c.A1050T						.						101.0	101.0	101.0					6																	32188291		1511	2709	4220	SO:0001819	synonymous_variant	4855	exon6			ACAGCTTGTGCCG		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.1050A>T	6.37:g.32188291T>A		60.0	0.0		125.0	15.0	NM_004557	B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Silent	SNP	ENST00000375023.3	37	CCDS34420.1																																																																																			.		0.617	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2		
NPAP1	23742	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	24921553	24921553	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr15:24921553T>C	ENST00000329468.2	+	1	1013	c.539T>C	c.(538-540)cTt>cCt	p.L180P		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	180					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)		p.L180H(1)									AGGACCCCCCTTAGCAGCGGA	0.607																																					p.L180P		.											.	.	.	1	Substitution - Missense(1)	lung(1)	c.T539C						.						47.0	40.0	42.0					15																	24921553		2203	4300	6503	SO:0001583	missense	23742	exon1			CCCCCCTTAGCAG	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.539T>C	15.37:g.24921553T>C	ENSP00000333735:p.Leu180Pro	85.0	0.0		97.0	15.0	NM_018958		Missense_Mutation	SNP	ENST00000329468.2	37	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	10.21	1.286474	0.23478	.	.	ENSG00000185823	ENST00000329468	T	0.11821	2.74	2.03	-2.41	0.06562	.	5.007880	0.00589	N	0.000348	T	0.14743	0.0356	L	0.29908	0.895	0.09310	N	1	D	0.54772	0.968	P	0.55749	0.783	T	0.15492	-1.0435	10	0.23302	T	0.38	.	0.011	0.00001	0.3043:0.1978:0.1893:0.3085	.	180	Q9NZP6	CO002_HUMAN	P	180	ENSP00000333735:L180P	ENSP00000333735:L180P	L	+	2	0	C15orf2	22472646	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-2.233000	0.01204	-0.601000	0.05783	0.352000	0.21897	CTT	.		0.607	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958	
NPR1	4881	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	1	153653162	153653162	+	Missense_Mutation	SNP	C	C	T	rs561449958		TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr1:153653162C>T	ENST00000368680.3	+	2	1379	c.907C>T	c.(907-909)Cgc>Tgc	p.R303C		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1	303					body fluid secretion (GO:0007589)|cell surface receptor signaling pathway (GO:0007166)|cGMP biosynthetic process (GO:0006182)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|regulation of vascular permeability (GO:0043114)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|G-protein coupled peptide receptor activity (GO:0008528)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Amyl Nitrite(DB01612)|Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Nesiritide(DB04899)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	TGTCAGTGCCCGCCAGGCCTT	0.577																																					p.R303C	Pancreas(141;1349 1870 15144 15830 40702)	.											.	NPR1	393	0			c.C907T						.						34.0	34.0	34.0					1																	153653162		2203	4300	6503	SO:0001583	missense	4881	exon2			AGTGCCCGCCAGG	BC063304	CCDS1051.1	1q21-q22	2014-03-03	2014-03-03		ENSG00000169418	ENSG00000169418			7943	protein-coding gene	gene with protein product	"""guanylate cyclase A"""	108960	"""atrionatriuretic peptide receptor A"", ""natriuretic peptide receptor A"""	ANPRA, NPRA		1979052	Standard	NM_000906		Approved	GUCY2A, ANPa	uc001fcs.4	P16066	OTTHUMG00000037085	ENST00000368680.3:c.907C>T	1.37:g.153653162C>T	ENSP00000357669:p.Arg303Cys	44.0	0.0		91.0	19.0	NM_000906	B0ZBF0|Q5SR08|Q6P4Q3	Missense_Mutation	SNP	ENST00000368680.3	37	CCDS1051.1	.	.	.	.	.	.	.	.	.	.	C	8.961	0.970610	0.18659	.	.	ENSG00000169418	ENST00000368680	T	0.76186	-1.0	4.47	2.5	0.30297	Extracellular ligand-binding receptor (1);	0.416519	0.22134	N	0.064153	T	0.76364	0.3977	M	0.80982	2.52	0.45097	D	0.998116	D	0.76494	0.999	P	0.59171	0.853	T	0.77792	-0.2455	10	0.62326	D	0.03	.	6.5876	0.22630	0.3253:0.5062:0.1686:0.0	.	303	P16066	ANPRA_HUMAN	C	303	ENSP00000357669:R303C	ENSP00000357669:R303C	R	+	1	0	NPR1	151919786	0.000000	0.05858	0.996000	0.52242	0.037000	0.13140	-0.541000	0.06099	2.317000	0.78254	0.557000	0.71058	CGC	.		0.577	NPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090034.1	NM_000906	
NR2C1	7181	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	12	95422248	95422248	+	Silent	SNP	T	T	C			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr12:95422248T>C	ENST00000333003.5	-	12	1776	c.1446A>G	c.(1444-1446)ctA>ctG	p.L482L	NR2C1_ENST00000545833.1_5'UTR	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1	482					gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	DNA binding (GO:0003677)|receptor activity (GO:0004872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						AAAACTCCTGTAGTTTGAAGA	0.318																																					p.L482L		.											.	NR2C1	187	0			c.A1446G						.						132.0	120.0	124.0					12																	95422248		2203	4300	6503	SO:0001819	synonymous_variant	7181	exon12			CTCCTGTAGTTTG	M29960	CCDS9051.1, CCDS41821.1, CCDS44953.1	12q22	2013-01-16				ENSG00000120798		"""Nuclear hormone receptors"""	7971	protein-coding gene	gene with protein product		601529		TR2		2597158	Standard	NM_001032287		Approved	TR2-11	uc001tdm.5	P13056	OTTHUMG00000170131	ENST00000333003.5:c.1446A>G	12.37:g.95422248T>C		63.0	0.0		64.0	6.0	NM_003297	A8K5K4|Q15625|Q15626	Silent	SNP	ENST00000333003.5	37	CCDS9051.1																																																																																			.		0.318	NR2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407565.2	NM_003297	
NR6A1	2649	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	9	127284984	127284984	+	Nonstop_Mutation	SNP	T	T	C			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr9:127284984T>C	ENST00000487099.2	-	10	1600	c.1443A>G	c.(1441-1443)tgA>tgG	p.*481W	NR6A1_ENST00000344523.4_Nonstop_Mutation_p.*480W|NR6A1_ENST00000416460.2_Nonstop_Mutation_p.*476W|NR6A1_ENST00000373584.3_Nonstop_Mutation_p.*477W	NM_001278546.1	NP_001265475.1	Q15406	NR6A1_HUMAN	nuclear receptor subfamily 6, group A, member 1	0					cell proliferation (GO:0008283)|gamete generation (GO:0007276)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						CTGGAACAGGTCATTCCTTGC	0.592																																					p.X481W	Esophageal Squamous(192;272 2884 6208 20560)	.											.	NR6A1	189	0			c.A1443G						.						48.0	34.0	39.0					9																	127284984		2202	4298	6500	SO:0001578	stop_lost	2649	exon10			AACAGGTCATTCC	U64876	CCDS35137.1, CCDS55340.1, CCDS65127.1	9q33.3	2014-01-21			ENSG00000148200	ENSG00000148200		"""Nuclear hormone receptors"""	7985	protein-coding gene	gene with protein product		602778		GCNF		9134503, 8982251	Standard	NM_001489		Approved	GCNF1, RTR, CT150	uc004bor.1	Q15406	OTTHUMG00000020661	ENST00000487099.2:c.1443A>G	9.37:g.127284984T>C	ENSP00000420267:p.*481Cysext*66	42.0	0.0		33.0	4.0	NM_033334	O00551|O00603|Q5T6F4|Q8NHQ0|Q92898|Q99802	Missense_Mutation	SNP	ENST00000487099.2	37	CCDS35137.1	.	.	.	.	.	.	.	.	.	.	T	19.64	3.864714	0.71949	.	.	ENSG00000148200	ENST00000487099;ENST00000373584;ENST00000416460;ENST00000344523	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2214	0.73313	0.0:0.0:0.0:1.0	.	.	.	.	W	481;477;476;480	.	.	X	-	3	0	NR6A1	126324805	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.412000	0.66392	2.168000	0.68352	0.533000	0.62120	TGA	.		0.592	NR6A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054043.4		
NRG2	9542	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	139239488	139239488	+	Intron	SNP	C	C	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr5:139239488C>T	ENST00000361474.1	-	6	1414				NRG2_ENST00000340391.3_Intron|NRG2_ENST00000394770.1_Intron|NRG2_ENST00000289409.4_Intron|NRG2_ENST00000289422.7_Missense_Mutation_p.G400E|NRG2_ENST00000541337.1_Intron|NRG2_ENST00000358522.3_Missense_Mutation_p.G394E|NRG2_ENST00000545385.1_Intron	NM_004883.2	NP_004874.1	O14511	NRG2_HUMAN	neuregulin 2						embryo development (GO:0009790)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAATTCAAATCCAAGGTGCTC	0.552																																					p.G400E		.											.	NRG2	526	0			c.G1199A						.						47.0	51.0	50.0					5																	139239488		1938	4157	6095	SO:0001627	intron_variant	9542	exon6			TCAAATCCAAGGT		CCDS4217.1, CCDS54910.1	5q23-q33	2013-01-11			ENSG00000158458	ENSG00000158458		"""Immunoglobulin superfamily / I-set domain containing"""	7998	protein-coding gene	gene with protein product	"""neural- and thymus-derived activator for ErbB kinases"", ""divergent of neuregulin-1"""	603818				9168114, 9168115	Standard	NM_004883		Approved	Don-1, NTAK, HRG2	uc003lev.2	O14511	OTTHUMG00000129241	ENST00000361474.1:c.1190-4125G>A	5.37:g.139239488C>T		213.0	0.0		244.0	32.0	NM_013982		Missense_Mutation	SNP	ENST00000361474.1	37	CCDS4217.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.92|17.92	3.507888|3.507888	0.64410|0.64410	.|.	.|.	ENSG00000158458|ENSG00000158458	ENST00000544729|ENST00000289422;ENST00000358522	.|T;T	.|0.73681	.|-0.63;-0.77	5.33|5.33	5.33|5.33	0.75918|0.75918	.|.	.|.	.|.	.|.	.|.	T|T	0.57125|0.57125	0.2032|0.2032	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	.|B;P	.|0.39696	.|0.007;0.683	.|B;B	.|0.34385	.|0.001;0.181	T|T	0.63985|0.63985	-0.6513|-0.6513	6|9	0.87932|0.46703	D|T	0|0.11	.|.	19.0293|19.0293	0.92948|0.92948	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|394;400	.|O14511-4;O14511-3	.|.;.	N|E	328|400;394	.|ENSP00000289422:G400E;ENSP00000351323:G394E	ENSP00000444943:D328N|ENSP00000289422:G400E	D|G	-|-	1|2	0|0	NRG2|NRG2	139219672|139219672	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.900000|0.900000	0.52787|0.52787	7.484000|7.484000	0.81180|0.81180	2.509000|2.509000	0.84616|0.84616	0.313000|0.313000	0.20887|0.20887	GAT|GGA	.		0.552	NRG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251340.1	NM_013982	
NRK	203447	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	105179196	105179196	+	Silent	SNP	A	A	G			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chrX:105179196A>G	ENST00000243300.9	+	21	3837	c.3534A>G	c.(3532-3534)tcA>tcG	p.S1178S	NRK_ENST00000428173.2_Silent_p.S1179S	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	1178					activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						CTGAGGAATCACCTAAGCAAC	0.403										HNSCC(51;0.14)																											p.S1178S		.											.	NRK	630	0			c.A3534G						.						214.0	188.0	196.0					X																	105179196		1899	4117	6016	SO:0001819	synonymous_variant	203447	exon21			GGAATCACCTAAG	BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.3534A>G	X.37:g.105179196A>G		104.0	0.0		94.0	12.0	NM_198465	Q32ND6|Q5H9K2|Q6ZMP2	Silent	SNP	ENST00000243300.9	37																																																																																				.		0.403	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465	
NRSN1	140767	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	24146149	24146149	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr6:24146149A>G	ENST00000378491.4	+	4	864	c.563A>G	c.(562-564)aAt>aGt	p.N188S		NM_080723.4	NP_542454.3			neurensin 1											breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						AGGGTTCAAAATGTCCAGCCT	0.483																																					p.N188S		.											.	NRSN1	90	0			c.A563G						.						58.0	65.0	63.0					6																	24146149		2203	4300	6503	SO:0001583	missense	140767	exon4			TTCAAAATGTCCA	AF418980	CCDS4549.1	6p22.1	2008-02-05	2006-07-04	2006-07-04	ENSG00000152954	ENSG00000152954			17881	protein-coding gene	gene with protein product			"""vesicular membrane protein p24"""	VMP		12463420	Standard	NM_080723		Approved	p24	uc010jpq.1	Q8IZ57	OTTHUMG00000016406	ENST00000378491.4:c.563A>G	6.37:g.24146149A>G	ENSP00000367752:p.Asn188Ser	78.0	0.0		119.0	14.0	NM_080723		Missense_Mutation	SNP	ENST00000378491.4	37	CCDS4549.1	.	.	.	.	.	.	.	.	.	.	A	14.46	2.540610	0.45280	.	.	ENSG00000152954	ENST00000378491	T	0.19250	2.16	5.35	4.19	0.49359	.	0.042896	0.85682	N	0.000000	T	0.08088	0.0202	L	0.42245	1.32	0.80722	D	1	B	0.21071	0.051	B	0.20955	0.032	T	0.07520	-1.0768	10	0.29301	T	0.29	-9.71	11.1828	0.48638	0.9276:0.0:0.0724:0.0	.	188	Q8IZ57	NRSN1_HUMAN	S	188	ENSP00000367752:N188S	ENSP00000367752:N188S	N	+	2	0	NRSN1	24254128	1.000000	0.71417	0.997000	0.53966	0.940000	0.58332	5.652000	0.67959	0.866000	0.35629	0.528000	0.53228	AAT	.		0.483	NRSN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043866.1	NM_080723	
NUP214	8021	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	9	134038560	134038560	+	Splice_Site	SNP	G	G	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr9:134038560G>A	ENST00000359428.5	+	19	2867	c.2723G>A	c.(2722-2724)aGt>aAt	p.S908N	RP11-544A12.4_ENST00000588378.1_RNA|RP11-544A12.4_ENST00000586662.1_RNA|RP11-544A12.4_ENST00000589540.1_RNA|RP11-544A12.4_ENST00000589095.1_RNA|RP11-544A12.4_ENST00000589667.1_RNA|NUP214_ENST00000451030.1_Splice_Site_p.S909N|RP11-544A12.4_ENST00000587408.1_RNA|NUP214_ENST00000411637.2_Splice_Site_p.S898N|RP11-544A12.4_ENST00000586290.1_RNA|RP11-544A12.4_ENST00000415391.2_RNA|RP11-544A12.4_ENST00000587264.1_RNA|RP11-544A12.4_ENST00000417798.2_RNA|RP11-544A12.4_ENST00000589128.1_RNA|RP11-544A12.4_ENST00000590461.1_RNA|RP11-544A12.4_ENST00000592466.1_RNA|RP11-544A12.4_ENST00000588325.1_RNA			P35658	NU214_HUMAN	nucleoporin 214kDa	908	11 X 5 AA approximate repeats.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		AGCATTCACAGGTGTGGAGAG	0.483			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""																																p.S908N	Pancreas(4;24 48 25510 30394 32571)	.		Dom	yes		9	9q34.1	8021	nucleoporin 214kDa (CAN)		L	.	NUP214	1131	0			c.G2723A						.						79.0	75.0	76.0					9																	134038560		2203	4300	6503	SO:0001630	splice_region_variant	8021	exon19			TTCACAGGTGTGG	X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"""nuclear pore complex protein Nup214"", ""CAN protein, putative oncogene"""	114350	"""nucleoporin 214kD (CAIN)"""			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.2723+1G>A	9.37:g.134038560G>A		103.0	0.0		95.0	17.0	NM_005085	A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Missense_Mutation	SNP	ENST00000359428.5	37	CCDS6940.1	.	.	.	.	.	.	.	.	.	.	G	16.11	3.030341	0.54790	.	.	ENSG00000126883	ENST00000359428;ENST00000411637;ENST00000451030;ENST00000541375;ENST00000540899;ENST00000438605	T;T;T	0.35605	1.3;1.32;1.31	5.6	5.6	0.85130	.	0.147968	0.31233	N	0.008012	T	0.31482	0.0798	N	0.08118	0	0.80722	D	1	P;D;B;P	0.53312	0.672;0.959;0.057;0.928	B;P;B;P	0.50659	0.412;0.647;0.013;0.647	T	0.27191	-1.0081	10	0.59425	D	0.04	-8.2165	16.757	0.85502	0.0:0.0:1.0:0.0	.	897;502;898;908	P35658-2;Q5JUP9;P35658-4;P35658	.;.;.;NU214_HUMAN	N	908;898;909;897;502;337	ENSP00000352400:S908N;ENSP00000396576:S898N;ENSP00000405014:S909N	ENSP00000352400:S908N	S	+	2	0	NUP214	133028381	1.000000	0.71417	0.970000	0.41538	0.375000	0.29983	5.485000	0.66850	2.636000	0.89361	0.467000	0.42956	AGT	.		0.483	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	NM_005085	Missense_Mutation
NUP93	9688	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	56872968	56872968	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr16:56872968A>T	ENST00000308159.5	+	19	2244	c.2123A>T	c.(2122-2124)gAt>gTt	p.D708V	NUP93_ENST00000542526.1_Missense_Mutation_p.D585V|NUP93_ENST00000569842.1_Missense_Mutation_p.D708V|NUP93_ENST00000564887.1_Missense_Mutation_p.D585V	NM_014669.4	NP_055484.3	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	708					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						GGTCATATTGATAGAGCTTTT	0.363																																					p.D708V	Colon(33;610 796 1305 1705 38917)	.											.	NUP93	205	0			c.A2123T						.						173.0	158.0	163.0					16																	56872968		2198	4300	6498	SO:0001583	missense	9688	exon19			ATATTGATAGAGC	D42085	CCDS10769.1, CCDS55996.1	16q13	2008-02-05			ENSG00000102900	ENSG00000102900			28958	protein-coding gene	gene with protein product		614351				9348540, 9531546	Standard	NM_014669		Approved	KIAA0095	uc002eka.3	Q8N1F7	OTTHUMG00000133278	ENST00000308159.5:c.2123A>T	16.37:g.56872968A>T	ENSP00000310668:p.Asp708Val	201.0	0.0		223.0	54.0	NM_014669	B3KPQ8|Q14705	Missense_Mutation	SNP	ENST00000308159.5	37	CCDS10769.1	.	.	.	.	.	.	.	.	.	.	A	18.11	3.550717	0.65311	.	.	ENSG00000102900	ENST00000308159;ENST00000542526	T;T	0.44881	0.91;0.91	6.14	6.14	0.99180	.	0.080378	0.85682	D	0.000000	T	0.37156	0.0993	L	0.35487	1.065	0.80722	D	1	B	0.20052	0.041	B	0.26416	0.069	T	0.09509	-1.0671	10	0.31617	T	0.26	-14.8164	16.806	0.85666	1.0:0.0:0.0:0.0	.	708	Q8N1F7	NUP93_HUMAN	V	708;585	ENSP00000310668:D708V;ENSP00000440235:D585V	ENSP00000310668:D708V	D	+	2	0	NUP93	55430469	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.813000	0.91963	2.367000	0.80283	0.529000	0.55759	GAT	.		0.363	NUP93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257058.4	NM_014669	
ODF3	113746	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	198506	198506	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr11:198506C>A	ENST00000325113.4	+	5	772	c.455C>A	c.(454-456)aCc>aAc	p.T152N	BET1L_ENST00000410108.1_Intron|ODF3_ENST00000525282.1_Missense_Mutation_p.T152N	NM_053280.3	NP_444510.2	Q96PU9	ODF3A_HUMAN	outer dense fiber of sperm tails 3	152					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	outer dense fiber (GO:0001520)				biliary_tract(1)|breast(1)|kidney(1)|large_intestine(2)|ovary(1)|prostate(2)|skin(1)	9		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;3.95e-27)|Epithelial(43;2.66e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.55e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		GGGCCCAATACCGTCGGCAAG	0.662																																					p.T152N		.											.	ODF3	493	0			c.C455A						.						56.0	56.0	56.0					11																	198506		2203	4300	6503	SO:0001583	missense	113746	exon5			CCAATACCGTCGG	AB067774	CCDS7688.1, CCDS65981.1	11p15.5	2010-04-23			ENSG00000177947	ENSG00000177947			19905	protein-coding gene	gene with protein product	"""cancer/testis antigen 135"""	608356				11870087	Standard	NM_001286136		Approved	SHIPPO1, hSHIPPO, CT135	uc001lob.3	Q96PU9	OTTHUMG00000119073	ENST00000325113.4:c.455C>A	11.37:g.198506C>A	ENSP00000325868:p.Thr152Asn	171.0	0.0		159.0	23.0	NM_053280	B7ZLT0|Q69YX0	Missense_Mutation	SNP	ENST00000325113.4	37	CCDS7688.1	.	.	.	.	.	.	.	.	.	.	C	19.53	3.845103	0.71603	.	.	ENSG00000177947	ENST00000325113;ENST00000540150;ENST00000525282	T;T	0.32272	1.48;1.46	4.87	4.87	0.63330	.	0.127854	0.35407	N	0.003240	T	0.35508	0.0934	N	0.19112	0.55	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.68483	0.939;0.958	T	0.06075	-1.0847	10	0.15952	T	0.53	-21.333	13.5189	0.61555	0.0:1.0:0.0:0.0	.	152;152	B7ZLT0;Q96PU9	.;ODF3A_HUMAN	N	152;69;152	ENSP00000325868:T152N;ENSP00000436588:T152N	ENSP00000325868:T152N	T	+	2	0	ODF3	188506	0.002000	0.14202	0.732000	0.30844	0.854000	0.48673	1.682000	0.37628	2.227000	0.72691	0.561000	0.74099	ACC	.		0.662	ODF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239287.1		
ONECUT3	390874	broad.mit.edu;bcgsc.ca;mdanderson.org	37	19	1775332	1775332	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr19:1775332T>C	ENST00000382349.4	+	2	2663	c.1373T>C	c.(1372-1374)gTc>gCc	p.V458A		NM_001080488.1	NP_001073957.1	O60422	ONEC3_HUMAN	one cut homeobox 3	458					endocrine pancreas development (GO:0031018)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)						Acute lymphoblastic leukemia(61;4.66e-11)|all_hematologic(61;4.59e-07)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCAACACCGTCAGCAACTTC	0.667																																					p.V458A		.											.	.	.	0			c.T1373C						.						21.0	23.0	22.0					19																	1775332		2085	4208	6293	SO:0001583	missense	390874	exon2			ACACCGTCAGCAA	AC004755	CCDS45900.1	19p13.3	2012-03-09	2007-07-16			ENSG00000205922		"""Homeoboxes / CUT class"""	13399	protein-coding gene	gene with protein product		611294	"""one cut domain, family member 3"""			9915796	Standard	NM_001080488		Approved		uc010xgr.2	O60422		ENST00000382349.4:c.1373T>C	19.37:g.1775332T>C	ENSP00000371786:p.Val458Ala	161.0	2.0		175.0	28.0	NM_001080488	A8MZM7	Missense_Mutation	SNP	ENST00000382349.4	37	CCDS45900.1	.	.	.	.	.	.	.	.	.	.	t	24.5	4.541023	0.85917	.	.	ENSG00000205922	ENST00000382349	D	0.99014	-5.33	2.85	2.85	0.33270	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.092745	0.43110	U	0.000614	D	0.99405	0.9790	H	0.96269	3.795	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.98985	1.0806	10	0.87932	D	0	.	9.6844	0.40089	0.0:0.0:0.0:1.0	.	458	O60422	ONEC3_HUMAN	A	458	ENSP00000371786:V458A	ENSP00000371786:V458A	V	+	2	0	ONECUT3	1726332	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	7.246000	0.78247	0.927000	0.37143	0.330000	0.21533	GTC	.		0.667	ONECUT3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418499.1		
OPCML	4978	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	132306092	132306092	+	Silent	SNP	T	T	C			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr11:132306092T>C	ENST00000331898.7	-	6	1403	c.825A>G	c.(823-825)aaA>aaG	p.K275K	OPCML_ENST00000541867.1_Silent_p.K275K|OPCML_ENST00000374778.4_Silent_p.K234K|OPCML_ENST00000524381.1_Silent_p.K268K|OPCML_ENST00000529038.1_5'UTR	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	275	Ig-like C2-type 3.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)|opioid receptor signaling pathway (GO:0038003)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	opioid receptor activity (GO:0004985)			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		ACATGCGGCCTTTGTTTTCAA	0.458																																					p.K275K		.											.	OPCML	93	0			c.A825G						.						159.0	145.0	150.0					11																	132306092		2201	4297	6498	SO:0001819	synonymous_variant	4978	exon6			GCGGCCTTTGTTT	BX537377	CCDS8492.1, CCDS31722.1	11q25	2013-01-11	2001-11-28		ENSG00000183715	ENSG00000183715		"""Immunoglobulin superfamily / I-set domain containing"""	8143	protein-coding gene	gene with protein product	"""IgLON family member 1"""	600632	"""opioid-binding protein/cell adhesion molecule-like"""			8244387	Standard	XM_005271578		Approved	OPCM, OBCAM, IGLON1	uc001qgs.3	Q14982	OTTHUMG00000163658	ENST00000331898.7:c.825A>G	11.37:g.132306092T>C		125.0	0.0		146.0	21.0	NM_002545	B2CZX2|B7ZLQ1|Q17RN7|Q7Z3W6	Silent	SNP	ENST00000331898.7	37	CCDS8492.1																																																																																			.		0.458	OPCML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374689.3	NM_001012393	
OPN4	94233	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	88419162	88419162	+	Missense_Mutation	SNP	T	T	C	rs34344653		TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr10:88419162T>C	ENST00000241891.5	+	5	904	c.737T>C	c.(736-738)cTc>cCc	p.L246P	OPN4_ENST00000372071.2_Missense_Mutation_p.L257P	NM_033282.3	NP_150598.1	Q9UHM6	OPN4_HUMAN	opsin 4	246					phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|rhodopsin mediated signaling pathway (GO:0016056)|rhythmic process (GO:0048511)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	11-cis retinal binding (GO:0005502)|G-protein coupled photoreceptor activity (GO:0008020)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						GTGTTCTTCCTCCCTCTGCTT	0.592																																					p.L257P		.											.	OPN4	69	0			c.T770C						.						260.0	190.0	214.0					10																	88419162		2203	4300	6503	SO:0001583	missense	94233	exon6			TCTTCCTCCCTCT	AF147788	CCDS7376.1, CCDS31237.1	10q22	2012-08-08	2008-04-16		ENSG00000122375	ENSG00000122375		"""GPCR / Class A : Opsin receptors"""	14449	protein-coding gene	gene with protein product	"""melanopsin"""	606665	"""opsin 4 (melanopsin)"""			10632589	Standard	NM_001030015		Approved	MOP, melanopsin	uc001kdp.3	Q9UHM6	OTTHUMG00000018654	ENST00000241891.5:c.737T>C	10.37:g.88419162T>C	ENSP00000241891:p.Leu246Pro	101.0	0.0		148.0	26.0	NM_001030015	B7ZLB3|Q14D01|Q2PP22|Q8NGQ9	Missense_Mutation	SNP	ENST00000241891.5	37	CCDS7376.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.369293	0.82463	.	.	ENSG00000122375	ENST00000372071;ENST00000241891;ENST00000443292	T;T;T	0.45668	0.89;0.89;0.89	5.15	5.15	0.70609	GPCR, rhodopsin-like superfamily (1);	0.156406	0.39083	N	0.001476	T	0.66096	0.2755	M	0.81614	2.55	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.997	D;D;D	0.72982	0.979;0.961;0.943	T	0.71971	-0.4431	10	0.87932	D	0	.	14.9869	0.71356	0.0:0.0:0.0:1.0	.	257;246;257	C9JWU6;Q9UHM6;Q9UHM6-2	.;OPN4_HUMAN;.	P	257;246;257	ENSP00000361141:L257P;ENSP00000241891:L246P;ENSP00000393132:L257P	ENSP00000241891:L246P	L	+	2	0	OPN4	88409142	1.000000	0.71417	0.834000	0.33040	0.928000	0.56348	6.172000	0.71932	1.942000	0.56320	0.533000	0.62120	CTC	.		0.592	OPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049158.2	NM_033282	
OR10A5	144124	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	6867579	6867579	+	Silent	SNP	T	T	C			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr11:6867579T>C	ENST00000299454.4	+	1	697	c.666T>C	c.(664-666)atT>atC	p.I222I	OR10A5_ENST00000379831.2_Silent_p.I226I			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	222					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ATACTCGCATTGCTGCTGCTA	0.473																																					p.I222I	Pancreas(44;21 1072 25662 28041 45559)	.											.	OR10A5	71	0			c.T666C						.						289.0	236.0	254.0					11																	6867579		2201	4296	6497	SO:0001819	synonymous_variant	144124	exon1			TCGCATTGCTGCT	AF324499	CCDS7773.1	11p15.4	2012-08-09			ENSG00000166363	ENSG00000166363		"""GPCR / Class A : Olfactory receptors"""	15131	protein-coding gene	gene with protein product		608493		OR10A1			Standard	NM_178168		Approved	OR11-403, JCG6	uc001met.1	Q9H207	OTTHUMG00000165738	ENST00000299454.4:c.666T>C	11.37:g.6867579T>C		445.0	0.0		452.0	54.0	NM_178168	O95223|Q52M66|Q96R21|Q96R22	Silent	SNP	ENST00000299454.4	37	CCDS7773.1																																																																																			.		0.473	OR10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385983.1	NM_178168	
OR10T2	128360	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	1	158368322	158368322	+	Missense_Mutation	SNP	T	T	G			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr1:158368322T>G	ENST00000334438.1	-	1	934	c.935A>C	c.(934-936)aAg>aCg	p.K312T		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	312			K -> N (in dbSNP:rs6692949).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					TTAGCTCATCTTGGTTGCCAC	0.358																																					p.K312T		.											.	OR10T2	70	0			c.A935C						.						24.0	23.0	23.0					1																	158368322		2203	4300	6503	SO:0001583	missense	128360	exon1			CTCATCTTGGTTG	AB065643	CCDS30895.1	1q23.1	2012-08-09			ENSG00000186306	ENSG00000186306		"""GPCR / Class A : Olfactory receptors"""	14816	protein-coding gene	gene with protein product							Standard	NM_001004475		Approved		uc010pih.2	Q8NGX3	OTTHUMG00000017521	ENST00000334438.1:c.935A>C	1.37:g.158368322T>G	ENSP00000334115:p.Lys312Thr	57.0	0.0		94.0	12.0	NM_001004475	Q6IF98	Missense_Mutation	SNP	ENST00000334438.1	37	CCDS30895.1	.	.	.	.	.	.	.	.	.	.	T	17.49	3.402698	0.62288	.	.	ENSG00000186306	ENST00000334438	T	0.00305	8.18	4.45	4.45	0.53987	.	0.000000	0.43919	D	0.000520	T	0.00109	0.0003	N	0.08118	0	0.21675	N	0.999599	D	0.76494	0.999	D	0.63488	0.915	T	0.55003	-0.8208	10	0.59425	D	0.04	.	11.3382	0.49516	0.0:0.0:0.0:1.0	.	312	Q8NGX3	O10T2_HUMAN	T	312	ENSP00000334115:K312T	ENSP00000334115:K312T	K	-	2	0	OR10T2	156634946	0.811000	0.29063	0.095000	0.20976	0.394000	0.30568	1.174000	0.31932	1.858000	0.53909	0.533000	0.62120	AAG	.		0.358	OR10T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046371.1	NM_001004475	
OR13C3	138803	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	107298487	107298487	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr9:107298487A>G	ENST00000374781.2	-	1	650	c.608T>C	c.(607-609)aTt>aCt	p.I203T		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	203						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						ATGATTGATAATATTATTCCC	0.418																																					p.I203T	GBM(86;1248 1274 14222 15028 46219)	.											.	OR13C3	69	0			c.T608C						.						116.0	115.0	115.0					9																	107298487		2203	4300	6503	SO:0001583	missense	138803	exon1			TTGATAATATTAT		CCDS35089.1	9q31.1	2013-09-24			ENSG00000204246	ENSG00000204246		"""GPCR / Class A : Olfactory receptors"""	14704	protein-coding gene	gene with protein product							Standard	NM_001001961		Approved		uc004bcb.1	Q8NGS6	OTTHUMG00000020406	ENST00000374781.2:c.608T>C	9.37:g.107298487A>G	ENSP00000363913:p.Ile203Thr	90.0	0.0		98.0	19.0	NM_001001961	Q5VVG1|Q6IF52	Missense_Mutation	SNP	ENST00000374781.2	37	CCDS35089.1	.	.	.	.	.	.	.	.	.	.	A	9.459	1.092577	0.20471	.	.	ENSG00000204246	ENST00000374781	T	0.00198	8.57	4.08	4.08	0.47627	GPCR, rhodopsin-like superfamily (1);	1.087510	0.07255	U	0.866611	T	0.00109	0.0003	N	0.16201	0.385	0.09310	N	1	P	0.35821	0.523	B	0.32149	0.141	T	0.29671	-1.0004	10	0.39692	T	0.17	.	7.0004	0.24807	0.7969:0.0:0.0:0.2031	.	203	Q8NGS6	O13C3_HUMAN	T	203	ENSP00000363913:I203T	ENSP00000363913:I203T	I	-	2	0	OR13C3	106338308	0.000000	0.05858	0.986000	0.45419	0.745000	0.42441	0.188000	0.17018	1.843000	0.53566	0.482000	0.46254	ATT	.		0.418	OR13C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053477.2		
OR2L2	26246	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	1	248202311	248202311	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr1:248202311T>C	ENST00000366479.2	+	1	838	c.742T>C	c.(742-744)Tcc>Ccc	p.S248P	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	248						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CACTGTAGTGTCCTTCTACTA	0.502																																					p.S248P		.											.	OR2L2	70	0			c.T742C						.						206.0	182.0	190.0					1																	248202311		2203	4300	6503	SO:0001583	missense	26246	exon1			GTAGTGTCCTTCT	X64978	CCDS31103.1	1q44	2012-08-09			ENSG00000203663	ENSG00000203663		"""GPCR / Class A : Olfactory receptors"""	8266	protein-coding gene	gene with protein product				OR2L4P, OR2L12		1370859	Standard	NM_001004686		Approved	HTPCRH07, HSHTPCRH07	uc001idw.3	Q8NH16	OTTHUMG00000040214	ENST00000366479.2:c.742T>C	1.37:g.248202311T>C	ENSP00000355435:p.Ser248Pro	230.0	0.0		471.0	44.0	NM_001004686	Q2M3T5	Missense_Mutation	SNP	ENST00000366479.2	37	CCDS31103.1	.	.	.	.	.	.	.	.	.	.	.	11.36	1.616213	0.28801	.	.	ENSG00000203663	ENST00000366479	T	0.38560	1.13	1.9	-2.83	0.05769	GPCR, rhodopsin-like superfamily (1);	0.000000	0.32287	U	0.006305	T	0.51346	0.1669	M	0.92507	3.315	0.09310	N	1	P	0.37573	0.6	P	0.46850	0.529	T	0.51172	-0.8739	10	0.56958	D	0.05	.	3.1725	0.06558	0.3251:0.0:0.1955:0.4794	.	248	Q8NH16	OR2L2_HUMAN	P	248	ENSP00000355435:S248P	ENSP00000355435:S248P	S	+	1	0	OR2L2	246268934	0.000000	0.05858	0.801000	0.32222	0.060000	0.15804	-2.297000	0.01141	-0.063000	0.13065	-1.636000	0.00776	TCC	.		0.502	OR2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096871.1	NM_001004686	
OR2G6	391211	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	1	248685435	248685435	+	Missense_Mutation	SNP	C	C	A	rs568353162	byFrequency	TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr1:248685435C>A	ENST00000343414.4	+	1	520	c.488C>A	c.(487-489)aCt>aAt	p.T163N		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	163						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGCTCCCTCACTGTGCAGCTG	0.557																																					p.T163N		.											.	OR2G6	71	0			c.C488A						.						87.0	72.0	77.0					1																	248685435		2203	4300	6503	SO:0001583	missense	391211	exon1			CCCTCACTGTGCA		CCDS31119.1	1q44	2012-08-09			ENSG00000188558	ENSG00000188558		"""GPCR / Class A : Olfactory receptors"""	27019	protein-coding gene	gene with protein product							Standard	NM_001013355		Approved		uc001ien.1	Q5TZ20	OTTHUMG00000040462	ENST00000343414.4:c.488C>A	1.37:g.248685435C>A	ENSP00000341291:p.Thr163Asn	234.0	0.0		448.0	36.0	NM_001013355	B2RP33	Missense_Mutation	SNP	ENST00000343414.4	37	CCDS31119.1	.	.	.	.	.	.	.	.	.	.	N	10.77	1.443424	0.25987	.	.	ENSG00000188558	ENST00000343414	T	0.00253	8.43	3.68	3.68	0.42216	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45606	U	0.000345	T	0.00815	0.0027	H	0.97611	4.04	0.09310	N	1	D	0.89917	1.0	D	0.81914	0.995	T	0.19128	-1.0315	10	0.87932	D	0	.	8.3892	0.32518	0.0:0.8869:0.0:0.1131	.	163	Q5TZ20	OR2G6_HUMAN	N	163	ENSP00000341291:T163N	ENSP00000341291:T163N	T	+	2	0	OR2G6	246752058	0.000000	0.05858	0.048000	0.18961	0.274000	0.26718	-0.000000	0.12993	1.869000	0.54173	0.400000	0.26472	ACT	.		0.557	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097358.1	XM_372842	
OR2T1	26696	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	248569623	248569623	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr1:248569623T>A	ENST00000366474.1	+	1	328	c.328T>A	c.(328-330)Tac>Aac	p.Y110N		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	110						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TACACCCATGTACTTCCTCCT	0.423																																					p.Y110N		.											.	OR2T1	69	0			c.T328A						.						176.0	159.0	165.0					1																	248569623		2203	4300	6503	SO:0001583	missense	26696	exon1			CCCATGTACTTCC	U86215	CCDS31115.1	1q44	2012-08-09			ENSG00000175143	ENSG00000175143		"""GPCR / Class A : Olfactory receptors"""	8277	protein-coding gene	gene with protein product						9500546	Standard	NM_030904		Approved	OR1-25	uc010pzm.2	O43869	OTTHUMG00000040450	ENST00000366474.1:c.328T>A	1.37:g.248569623T>A	ENSP00000355430:p.Tyr110Asn	180.0	0.0		337.0	34.0	NM_030904	Q6IEZ9	Missense_Mutation	SNP	ENST00000366474.1	37	CCDS31115.1	.	.	.	.	.	.	.	.	.	.	t	19.03	3.746982	0.69418	.	.	ENSG00000175143	ENST00000366474	T	0.15603	2.41	4.75	4.75	0.60458	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33534	U	0.004806	T	0.46658	0.1404	M	0.87827	2.91	0.46901	D	0.99924	D	0.89917	1.0	D	0.83275	0.996	T	0.55283	-0.8165	10	0.87932	D	0	.	13.3845	0.60789	0.0:0.0:0.0:1.0	.	110	O43869	OR2T1_HUMAN	N	110	ENSP00000355430:Y110N	ENSP00000355430:Y110N	Y	+	1	0	OR2T1	246636246	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	4.233000	0.58651	1.993000	0.58246	0.528000	0.53228	TAC	.		0.423	OR2T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097346.2		
OR2T34	127068	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	1	248737675	248737675	+	Nonsense_Mutation	SNP	A	A	C			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr1:248737675A>C	ENST00000328782.2	-	1	405	c.384T>G	c.(382-384)taT>taG	p.Y128*		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	128						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AAACAGCAGCATATCGGTCAT	0.552																																					p.Y128X		.											.	OR2T34	69	0			c.T384G						.						22.0	24.0	23.0					1																	248737675		2152	4264	6416	SO:0001587	stop_gained	127068	exon1			AGCAGCATATCGG	BK004477	CCDS31120.1	1q44	2012-08-09			ENSG00000183310	ENSG00000183310		"""GPCR / Class A : Olfactory receptors"""	31256	protein-coding gene	gene with protein product							Standard	NM_001001821		Approved		uc001iep.1	Q8NGX1	OTTHUMG00000040387	ENST00000328782.2:c.384T>G	1.37:g.248737675A>C	ENSP00000330904:p.Tyr128*	651.0	0.0		1219.0	94.0	NM_001001821	B2RNJ8|Q6IEY5|Q96R31	Nonsense_Mutation	SNP	ENST00000328782.2	37	CCDS31120.1	.	.	.	.	.	.	.	.	.	.	.	14.08	2.427545	0.43122	.	.	ENSG00000183310	ENST00000328782	.	.	.	2.19	-0.611	0.11601	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.12	0.20148	0.7399:0.0:0.2601:0.0	.	.	.	.	X	128	.	ENSP00000330904:Y128X	Y	-	3	2	OR2T34	246804298	0.001000	0.12720	0.008000	0.14137	0.119000	0.20118	-0.342000	0.07801	-0.461000	0.06993	0.319000	0.21371	TAT	.		0.552	OR2T34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097138.1	NM_001001821	
OR2T10	127069	ucsc.edu;bcgsc.ca	37	1	248756804	248756804	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr1:248756804T>C	ENST00000330500.2	-	1	296	c.266A>G	c.(265-267)gAc>gGc	p.D89G	Y_RNA_ENST00000364732.1_RNA	NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	89						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GATGGTCTTGTCTTTGGCCAG	0.507																																					p.D89G		.											.	OR2T10	69	0			c.A266G						.						65.0	76.0	72.0					1																	248756804		2039	4235	6274	SO:0001583	missense	127069	exon1			GTCTTGTCTTTGG		CCDS31121.1	1q44	2012-08-09			ENSG00000184022	ENSG00000184022		"""GPCR / Class A : Olfactory receptors"""	19573	protein-coding gene	gene with protein product							Standard	NM_001004693		Approved		uc010pzn.2	Q8NGZ9	OTTHUMG00000040388	ENST00000330500.2:c.266A>G	1.37:g.248756804T>C	ENSP00000329210:p.Asp89Gly	148.0	2.0		289.0	30.0	NM_001004693	B2RNK7	Missense_Mutation	SNP	ENST00000330500.2	37	CCDS31121.1	.	.	.	.	.	.	.	.	.	.	.	0.033	-1.321990	0.01320	.	.	ENSG00000184022	ENST00000330500	T	0.01323	5.01	2.34	-3.79	0.04320	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01061	0.0035	L	0.31371	0.925	0.09310	N	1	B	0.19583	0.037	B	0.20184	0.028	T	0.48375	-0.9041	9	0.42905	T	0.14	.	0.8854	0.01243	0.2672:0.1477:0.1245:0.4606	.	89	Q8NGZ9	O2T10_HUMAN	G	89	ENSP00000329210:D89G	ENSP00000329210:D89G	D	-	2	0	OR2T10	246823427	0.000000	0.05858	0.000000	0.03702	0.101000	0.19017	-0.888000	0.04148	-0.406000	0.07588	-0.773000	0.03387	GAC	.		0.507	OR2T10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097139.1	NM_001004693	
OR4A5	81318	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	51412084	51412084	+	Silent	SNP	G	G	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr11:51412084G>A	ENST00000319760.6	-	1	364	c.312C>T	c.(310-312)ttC>ttT	p.F104F		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	104						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				CCCCACCAAAGAAATGGTCTA	0.448																																					p.F104F		.											.	OR4A5	92	0			c.C312T						.						66.0	67.0	67.0					11																	51412084		2201	4296	6497	SO:0001819	synonymous_variant	81318	exon1			ACCAAAGAAATGG	AB065506	CCDS73289.1	11p11.12	2012-08-09			ENSG00000221840	ENSG00000221840		"""GPCR / Class A : Olfactory receptors"""	15162	protein-coding gene	gene with protein product							Standard	NM_001005272		Approved		uc001nhi.2	Q8NH83	OTTHUMG00000166764	ENST00000319760.6:c.312C>T	11.37:g.51412084G>A		276.0	0.0		250.0	36.0	NM_001005272	Q6IF84	Silent	SNP	ENST00000319760.6	37	CCDS31497.1																																																																																			.		0.448	OR4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391399.1	NM_001005272	
OR5D18	219438	broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	55587463	55587463	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr11:55587463G>A	ENST00000333976.4	+	1	378	c.358G>A	c.(358-360)Gcc>Acc	p.A120T		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	120						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				AGCTGTGATGGCCTATGACCG	0.453																																					p.A120T		.											.	OR5D18	71	0			c.G358A						.						167.0	162.0	164.0					11																	55587463		2200	4296	6496	SO:0001583	missense	219438	exon1			GTGATGGCCTATG	AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"""GPCR / Class A : Olfactory receptors"""	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.358G>A	11.37:g.55587463G>A	ENSP00000335025:p.Ala120Thr	288.0	1.0		338.0	70.0	NM_001001952	Q6IF67|Q6IFD3|Q96RB3	Missense_Mutation	SNP	ENST00000333976.4	37	CCDS31510.1	.	.	.	.	.	.	.	.	.	.	.	20.7	4.036021	0.75617	.	.	ENSG00000186119	ENST00000333976	T	0.54071	0.59	4.84	3.91	0.45181	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39210	N	0.001428	T	0.68869	0.3048	H	0.96365	3.81	0.35287	D	0.781833	P	0.50369	0.934	P	0.44696	0.458	D	0.84873	0.0826	10	0.87932	D	0	-38.6253	13.543	0.61686	0.0:0.0:0.8427:0.1573	.	120	Q8NGL1	OR5DI_HUMAN	T	120	ENSP00000335025:A120T	ENSP00000335025:A120T	A	+	1	0	OR5D18	55344039	1.000000	0.71417	0.996000	0.52242	0.870000	0.49936	3.767000	0.55288	1.190000	0.43042	0.560000	0.71715	GCC	.		0.453	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952	
OR7C2	26658	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	15052324	15052324	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr19:15052324A>T	ENST00000248072.3	+	1	24	c.24A>T	c.(22-24)gaA>gaT	p.E8D		NM_012377.1	NP_036509.1	O60412	OR7C2_HUMAN	olfactory receptor, family 7, subfamily C, member 2	8						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					ACCAAACAGAAGTTGGAAACT	0.483																																					p.E8D		.											.	OR7C2	71	0			c.A24T						.						93.0	98.0	96.0					19																	15052324		2203	4300	6503	SO:0001583	missense	26658	exon1			AACAGAAGTTGGA	U86255	CCDS12320.1	19p13.1	2012-08-09				ENSG00000127529		"""GPCR / Class A : Olfactory receptors"""	8374	protein-coding gene	gene with protein product				OR7C3			Standard	NM_012377		Approved	OR19-18	uc010xoc.2	O60412		ENST00000248072.3:c.24A>T	19.37:g.15052324A>T	ENSP00000248072:p.Glu8Asp	89.0	0.0		131.0	14.0	NM_012377	O43881|Q6IFP9	Missense_Mutation	SNP	ENST00000248072.3	37	CCDS12320.1	.	.	.	.	.	.	.	.	.	.	a	7.967	0.748165	0.15710	.	.	ENSG00000127529	ENST00000248072	T	0.19669	2.13	4.01	1.88	0.25563	.	1.199010	0.06609	U	0.755311	T	0.09862	0.0242	N	0.10645	0.015	0.09310	N	1	B	0.14012	0.009	B	0.17722	0.019	T	0.38908	-0.9639	10	0.19590	T	0.45	.	3.27	0.06878	0.5348:0.0:0.1031:0.3621	.	8	O60412	OR7C2_HUMAN	D	8	ENSP00000248072:E8D	ENSP00000248072:E8D	E	+	3	2	OR7C2	14913324	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.046000	0.01409	0.223000	0.20920	0.416000	0.27883	GAA	.		0.483	OR7C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466281.1		
OSTM1	28962	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	108372335	108372335	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr6:108372335T>A	ENST00000193322.3	-	4	768	c.683A>T	c.(682-684)tAc>tTc	p.Y228F		NM_014028.3	NP_054747.2	Q86WC4	OSTM1_HUMAN	osteopetrosis associated transmembrane protein 1	228					ion transmembrane transport (GO:0034220)|osteoclast differentiation (GO:0030316)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)				central_nervous_system(2)|endometrium(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	8		all_cancers(87;3.82e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000195)|Colorectal(196;0.0293)|all_lung(197;0.0938)		BRCA - Breast invasive adenocarcinoma(108;0.0131)|Epithelial(106;0.0438)|OV - Ovarian serous cystadenocarcinoma(136;0.0571)|all cancers(137;0.0581)		CAGAGTTTTGTATGCTTCACG	0.348																																					p.Y228F	Melanoma(162;1427 1909 3096 17430 21396)	.											.	OSTM1	68	0			c.A683T						.						155.0	138.0	144.0					6																	108372335		2202	4300	6502	SO:0001583	missense	28962	exon4			GTTTTGTATGCTT	AF533891	CCDS5062.1	6q21	2014-06-17			ENSG00000081087	ENSG00000081087			21652	protein-coding gene	gene with protein product	"""CLCN7 accessory beta subunit"""	607649				12627228, 21527911	Standard	NM_014028		Approved	HSPC019, GL	uc003psd.3	Q86WC4	OTTHUMG00000015317	ENST00000193322.3:c.683A>T	6.37:g.108372335T>A	ENSP00000193322:p.Tyr228Phe	172.0	0.0		228.0	31.0	NM_014028	E1P5E3|Q5R391|Q6PCA7|Q7RTW6|Q8NC29|Q8TC82|Q9Y2S9	Missense_Mutation	SNP	ENST00000193322.3	37	CCDS5062.1	.	.	.	.	.	.	.	.	.	.	t	25.8	4.678364	0.88542	.	.	ENSG00000081087	ENST00000193322;ENST00000440575	T	0.61392	0.11	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.72260	0.3438	M	0.78223	2.4	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77075	-0.2722	10	0.87932	D	0	-7.8843	16.1376	0.81497	0.0:0.0:0.0:1.0	.	228	Q86WC4	OSTM1_HUMAN	F	228;81	ENSP00000193322:Y228F	ENSP00000193322:Y228F	Y	-	2	0	OSTM1	108479028	1.000000	0.71417	0.430000	0.26722	0.937000	0.57800	6.767000	0.74975	2.212000	0.71576	0.533000	0.62120	TAC	.		0.348	OSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041709.3	NM_014028	
PABPC1L	80336	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	43566743	43566743	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr20:43566743C>G	ENST00000217073.2	+	13	1687	c.1687C>G	c.(1687-1689)Ctg>Gtg	p.L563V	PABPC1L_ENST00000372819.1_Missense_Mutation_p.L117V|PABPC1L_ENST00000490798.1_Intron|PABPC1L_ENST00000217075.2_Missense_Mutation_p.L117V|PABPC1L_ENST00000255136.3_Missense_Mutation_p.L563V|PABPC1L_ENST00000372824.1_Missense_Mutation_p.L117V|PABPC1L_ENST00000537323.1_3'UTR			Q4VXU2	PAP1L_HUMAN	poly(A) binding protein, cytoplasmic 1-like	563	PABC. {ECO:0000255|PROSITE- ProRule:PRU00641}.				mRNA polyadenylation (GO:0006378)|oocyte maturation (GO:0001556)	extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						CCACACCCAGCTGGCTGGCAA	0.567																																					p.L563V		.											.	PABPC1L	47	0			c.C1687G						.						72.0	63.0	65.0					20																	43566743		1568	3582	5150	SO:0001583	missense	80336	exon13			ACCCAGCTGGCTG	AK026760	CCDS42878.1	20q12-q13.1	2013-02-12	2007-11-21	2007-11-21	ENSG00000101104	ENSG00000101104		"""RNA binding motif (RRM) containing"""	15797	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 119"""	C20orf119		11549316	Standard	NM_001124756		Approved	dJ1069P2.3, PABPC1L1, ePAB	uc010ggv.1	Q4VXU2	OTTHUMG00000032553	ENST00000217073.2:c.1687C>G	20.37:g.43566743C>G	ENSP00000217073:p.Leu563Val	140.0	0.0		195.0	38.0	NM_001124756	Q4VY17	Missense_Mutation	SNP	ENST00000217073.2	37	CCDS42878.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.68|17.68	3.449107|3.449107	0.63178|0.63178	.|.	.|.	ENSG00000101104|ENSG00000101104	ENST00000255136;ENST00000421240;ENST00000217073;ENST00000372824;ENST00000372819;ENST00000217075|ENST00000372821;ENST00000372826;ENST00000372822	T;T;T;T;T|T	0.50001|0.44083	0.76;0.76;0.76;0.76;0.76|0.93	4.72|4.72	2.74|2.74	0.32292|0.32292	Polyadenylate-binding protein/Hyperplastic disc protein (5);|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.57154|0.57154	0.2034|0.2034	M|M	0.82716|0.82716	2.605|2.605	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.999;1.0|.	D;D|.	0.85130|.	0.985;0.997|.	T|T	0.61277|0.61277	-0.7095|-0.7095	10|7	0.66056|0.87932	D|D	0.02|0	.|.	8.1996|8.1996	0.31417|0.31417	0.0:0.6888:0.0:0.3112|0.0:0.6888:0.0:0.3112	.|.	563;117|.	Q4VXU2;G5E9L3|.	PAP1L_HUMAN;.|.	V|R	563;117;563;117;117;117|144;98;85	ENSP00000255136:L563V;ENSP00000217073:L563V;ENSP00000361911:L117V;ENSP00000361906:L117V;ENSP00000217075:L117V|ENSP00000361909:S85R	ENSP00000217073:L563V|ENSP00000361908:S144R	L|S	+|+	1|3	2|2	PABPC1L|PABPC1L	43000157|43000157	0.947000|0.947000	0.32204|0.32204	0.905000|0.905000	0.35620|0.35620	0.991000|0.991000	0.79684|0.79684	2.125000|2.125000	0.42016|0.42016	1.224000|1.224000	0.43551|0.43551	0.591000|0.591000	0.81541|0.81541	CTG|AGC	.		0.567	PABPC1L-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127816.2		
PCDH11X	27328	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	91133861	91133861	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chrX:91133861G>C	ENST00000373094.1	+	2	3467	c.2622G>C	c.(2620-2622)aaG>aaC	p.K874N	PCDH11X_ENST00000298274.8_Missense_Mutation_p.K874N|PCDH11X_ENST00000395337.2_Missense_Mutation_p.K874N|PCDH11X_ENST00000504220.2_Missense_Mutation_p.K874N|PCDH11X_ENST00000361655.2_Missense_Mutation_p.K874N|PCDH11X_ENST00000361724.1_Missense_Mutation_p.K874N|PCDH11X_ENST00000373088.1_Missense_Mutation_p.K874N|PCDH11X_ENST00000406881.1_Missense_Mutation_p.K874N|PCDH11X_ENST00000373097.1_Missense_Mutation_p.K874N	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	874	Poly-Lys.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						aaaagaagaagaagCATTCCC	0.398																																					p.K874N	NSCLC(38;925 1092 2571 38200 45895)	.											.	PCDH11X	193	0			c.G2622C						.						77.0	71.0	73.0					X																	91133861		2203	4300	6503	SO:0001583	missense	27328	exon2			GAAGAAGAAGCAT	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.2622G>C	X.37:g.91133861G>C	ENSP00000362186:p.Lys874Asn	502.0	1.0		455.0	94.0	NM_001168363	A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	G	13.39	2.224235	0.39300	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06;1.06;1.06;1.06;1.06	4.86	4.0	0.46444	Protocadherin (1);	0.121275	0.53938	D	0.000050	T	0.59115	0.2170	M	0.67953	2.075	0.39692	D	0.971066	D;D;D;D;D;D;D;D	0.71674	0.995;0.997;0.997;0.997;0.997;0.998;0.995;0.995	P;D;D;D;D;D;P;P	0.72338	0.905;0.947;0.962;0.962;0.962;0.977;0.905;0.905	T	0.60747	-0.7202	10	0.46703	T	0.11	.	11.2437	0.48985	0.0931:0.0:0.9069:0.0	.	874;874;874;874;874;874;874;874	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	N	874	ENSP00000378746:K874N;ENSP00000362186:K874N;ENSP00000362189:K874N;ENSP00000355040:K874N;ENSP00000362180:K874N;ENSP00000423762:K874N;ENSP00000355105:K874N;ENSP00000384758:K874N;ENSP00000298274:K874N	ENSP00000298274:K874N	K	+	3	2	PCDH11X	91020517	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	5.989000	0.70587	0.953000	0.37825	0.600000	0.82982	AAG	.		0.398	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969	
PCDH1	5097	hgsc.bcm.edu;bcgsc.ca	37	5	141248811	141248811	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr5:141248811T>A	ENST00000394536.3	-	2	365	c.226A>T	c.(226-228)Agc>Tgc	p.S76C	PCDH1_ENST00000287008.3_Missense_Mutation_p.S76C|PCDH1_ENST00000456271.1_Missense_Mutation_p.S76C|PCDH1_ENST00000503492.1_Missense_Mutation_p.S76C|PCDH1_ENST00000536585.1_Missense_Mutation_p.S54C	NM_001278613.1|NM_001278615.1	NP_001265542.1|NP_001265544.1	Q08174	PCDH1_HUMAN	protocadherin 1	76	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		GCTGCGAGGCTCCCAATGAGG	0.602																																					p.S76C	Ovarian(132;1609 1739 4190 14731 45037)	.											.	PCDH1	95	0			c.A226T						.						40.0	39.0	40.0					5																	141248811		2203	4300	6503	SO:0001583	missense	5097	exon2			CGAGGCTCCCAAT	AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"""Cadherins / Protocadherins : Non-clustered"""	8655	protein-coding gene	gene with protein product		603626	"""protocadherin 1 (cadherin-like 1)"""			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000394536.3:c.226A>T	5.37:g.141248811T>A	ENSP00000378043:p.Ser76Cys	121.0	0.0		102.0	6.0	NM_032420	Q8IUP2	Missense_Mutation	SNP	ENST00000394536.3	37	CCDS43375.1	.	.	.	.	.	.	.	.	.	.	T	16.52	3.146111	0.57044	.	.	ENSG00000156453	ENST00000503492;ENST00000287008;ENST00000394536;ENST00000456271;ENST00000357517;ENST00000536585;ENST00000514773	T;T;T;T;T;T;T	0.28255	1.62;1.62;1.62;1.62;1.62;1.62;1.62	4.21	4.21	0.49690	Cadherin, N-terminal (1);Cadherin (2);	0.000000	0.64402	D	0.000007	T	0.51075	0.1653	M	0.67953	2.075	0.50171	D	0.999852	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.987	T	0.54827	-0.8235	10	0.87932	D	0	.	11.5439	0.50681	0.0:0.0:0.0:1.0	.	76;76	Q08174;Q08174-2	PCDH1_HUMAN;.	C	76;76;76;76;87;54;54	ENSP00000424667:S76C;ENSP00000287008:S76C;ENSP00000378043:S76C;ENSP00000403497:S76C;ENSP00000350122:S87C;ENSP00000438825:S54C;ENSP00000424163:S54C	ENSP00000287008:S76C	S	-	1	0	PCDH1	141228995	1.000000	0.71417	1.000000	0.80357	0.280000	0.26924	7.754000	0.85163	1.895000	0.54865	0.454000	0.30748	AGC	.		0.602	PCDH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251862.1	NM_032420	
PCDH15	65217	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	55600110	55600110	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr10:55600110T>C	ENST00000320301.6	-	29	4347	c.3953A>G	c.(3952-3954)aAc>aGc	p.N1318S	PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395433.1_Missense_Mutation_p.N1296S|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.N1247S|PCDH15_ENST00000409834.1_Missense_Mutation_p.N929S|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.N1281S|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.N1318S|PCDH15_ENST00000395445.1_Missense_Mutation_p.N1325S|PCDH15_ENST00000373965.2_Missense_Mutation_p.N1325S|PCDH15_ENST00000395430.1_Missense_Mutation_p.N1318S|PCDH15_ENST00000414778.1_Missense_Mutation_p.N1323S|PCDH15_ENST00000361849.3_Missense_Mutation_p.N1318S|PCDH15_ENST00000395446.1_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1318					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GATGGCTCTGTTGGTTTGGGG	0.428										HNSCC(58;0.16)																											p.N1323S		.											.	PCDH15	193	0			c.A3968G						.						159.0	151.0	153.0					10																	55600110		2203	4300	6503	SO:0001583	missense	65217	exon30			GCTCTGTTGGTTT	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.3953A>G	10.37:g.55600110T>C	ENSP00000322604:p.Asn1318Ser	142.0	0.0		186.0	30.0	NM_001142763	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.456328	0.84317	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T;T;T;T;T;T	0.61392	0.3;0.34;0.24;0.26;0.25;0.14;0.13;0.18;0.13;0.11;0.11	5.43	5.43	0.79202	.	.	.	.	.	T	0.67878	0.2940	L	0.36672	1.1	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.997;1.0;0.999;0.998;0.999;1.0;0.997;0.997;0.998;0.998;0.997;1.0;0.999	D;D;D;D;D;D;D;D;D;D;D;D;D	0.85130	0.989;0.997;0.97;0.952;0.997;0.997;0.989;0.995;0.952;0.952;0.995;0.997;0.97	T	0.70204	-0.4936	9	0.59425	D	0.04	.	15.4284	0.75072	0.0:0.0:0.0:1.0	.	1296;1318;1318;1323;1247;1281;1318;1318;1325;1325;1318;1323;1318	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	S	1325;1323;1318;1318;929;1325;1281;1318;1296;1318;1318;1323;1247	ENSP00000363076:N1325S;ENSP00000410304:N1323S;ENSP00000378826:N1318S;ENSP00000386693:N929S;ENSP00000378832:N1325S;ENSP00000378820:N1281S;ENSP00000354950:N1318S;ENSP00000378821:N1296S;ENSP00000322604:N1318S;ENSP00000378818:N1318S;ENSP00000412628:N1247S	ENSP00000322604:N1318S	N	-	2	0	PCDH15	55270116	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.986000	0.88173	2.182000	0.69389	0.472000	0.43445	AAC	.		0.428	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056	
PCDHAC2	56134	broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	140348722	140348722	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr5:140348722T>A	ENST00000289269.5	+	1	2903	c.2371T>A	c.(2371-2373)Tac>Aac	p.Y791N	PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2	791					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCAAGACCTACTGCTACAA	0.532																																					p.Y791N	Melanoma(190;638 2083 3390 11909 52360)	.											.	PCDHAC2	26	0			c.T2371A						.						87.0	83.0	84.0					5																	140348722		2203	4300	6503	SO:0001583	missense	56134	exon1			AAGACCTACTGCT	AF152474	CCDS4242.1	5q31	2010-11-26			ENSG00000243232	ENSG00000243232		"""Cadherins / Protocadherins : Clustered"""	8677	other	complex locus constituent		606321				10380929	Standard	NM_031883		Approved	PCDH-ALPHA-C2		Q9Y5I4	OTTHUMG00000129607	ENST00000289269.5:c.2371T>A	5.37:g.140348722T>A	ENSP00000289269:p.Tyr791Asn	148.0	1.0		165.0	31.0	NM_031883	Q2M3V1|Q9Y5F4	Missense_Mutation	SNP	ENST00000289269.5	37	CCDS4242.1	.	.	.	.	.	.	.	.	.	.	T	16.90	3.250614	0.59212	.	.	ENSG00000243232	ENST00000289269	T	0.55588	0.51	5.19	5.19	0.71726	.	0.000000	0.38164	N	0.001799	T	0.78767	0.4335	M	0.92412	3.305	0.80722	D	1	D;D	0.76494	0.994;0.999	D;D	0.83275	0.925;0.996	D	0.84618	0.0682	10	0.87932	D	0	.	15.0422	0.71799	0.0:0.0:0.0:1.0	.	791;791	Q9Y5I4-2;Q9Y5I4	.;PCDC2_HUMAN	N	791	ENSP00000289269:Y791N	ENSP00000289269:Y791N	Y	+	1	0	PCDHAC2	140328906	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.971000	0.70440	1.972000	0.57404	0.379000	0.24179	TAC	.		0.532	PCDHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251802.2	NM_018899	
PCDHB1	29930	broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	140432602	140432602	+	Missense_Mutation	SNP	C	C	A	rs116101801		TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr5:140432602C>A	ENST00000306549.3	+	1	1624	c.1547C>A	c.(1546-1548)gCg>gAg	p.A516E		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	516	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAGCTCTACGCGCTGAGAACC	0.428																																					p.A516E		.											.	PCDHB1	90	0			c.C1547A						.						71.0	72.0	72.0					5																	140432602		2203	4300	6503	SO:0001583	missense	29930	exon1			TCTACGCGCTGAG	AF152488	CCDS4243.1	5q31	2010-01-26			ENSG00000171815	ENSG00000171815		"""Cadherins / Protocadherins : Clustered"""	8680	other	protocadherin		606327				10380929	Standard	NM_013340		Approved	PCDH-BETA1	uc003lik.1	Q9Y5F3	OTTHUMG00000129627	ENST00000306549.3:c.1547C>A	5.37:g.140432602C>A	ENSP00000307234:p.Ala516Glu	130.0	1.0		141.0	40.0	NM_013340	Q2M257	Missense_Mutation	SNP	ENST00000306549.3	37	CCDS4243.1	.	.	.	.	.	.	.	.	.	.	C	14.64	2.596566	0.46318	.	.	ENSG00000171815	ENST00000306549	T	0.52754	0.65	6.11	6.11	0.99139	Cadherin (5);Cadherin-like (1);	0.000000	0.44483	D	0.000456	T	0.78874	0.4352	H	0.97587	4.035	0.36417	D	0.864067	D	0.89917	1.0	D	0.79108	0.992	D	0.87595	0.2493	10	0.87932	D	0	.	12.783	0.57487	0.0:0.9247:0.0:0.0753	.	516	Q9Y5F3	PCDB1_HUMAN	E	516	ENSP00000307234:A516E	ENSP00000307234:A516E	A	+	2	0	PCDHB1	140412786	0.000000	0.05858	0.994000	0.49952	0.603000	0.37013	0.840000	0.27600	2.906000	0.99361	0.655000	0.94253	GCG	C|0.999;T|0.001		0.428	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251822.2	NM_013340	
PCDHGA1	56114	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	140711003	140711003	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr5:140711003T>C	ENST00000517417.1	+	1	752	c.752T>C	c.(751-753)gTc>gCc	p.V251A	AC005618.6_ENST00000606901.1_lincRNA|PCDHGA1_ENST00000378105.3_Missense_Mutation_p.V251A	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	251	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATATAAATGTCCCCGAAAAC	0.488																																					p.V251A		.											.	PCDHGA1	137	0			c.T752C						.						65.0	65.0	65.0					5																	140711003		2203	4300	6503	SO:0001583	missense	56114	exon1			TAAATGTCCCCGA	AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"""Cadherins / Protocadherins : Clustered"""	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.752T>C	5.37:g.140711003T>C	ENSP00000431083:p.Val251Ala	65.0	0.0		62.0	14.0	NM_018912	Q2M273|Q9Y5D6	Missense_Mutation	SNP	ENST00000517417.1	37	CCDS54922.1	.	.	.	.	.	.	.	.	.	.	T	12.06	1.825319	0.32237	.	.	ENSG00000204956	ENST00000517417;ENST00000378105	T;T	0.58210	0.35;0.35	4.2	4.2	0.49525	Cadherin (4);Cadherin-like (1);	0.000000	0.44483	D	0.000456	T	0.76751	0.4031	M	0.93898	3.47	0.09310	N	1	D;P	0.67145	0.996;0.932	D;P	0.65233	0.933;0.718	T	0.72541	-0.4262	10	0.87932	D	0	.	13.4192	0.60987	0.0:0.0:0.0:1.0	.	251;251	Q9Y5H4-2;Q9Y5H4	.;PCDG1_HUMAN	A	251	ENSP00000431083:V251A;ENSP00000367345:V251A	ENSP00000367345:V251A	V	+	2	0	PCDHGA1	140691187	0.527000	0.26306	0.073000	0.20177	0.016000	0.09150	4.106000	0.57804	1.905000	0.55150	0.533000	0.62120	GTC	.		0.488	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912	
PCNT	5116	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	21	47754602	47754602	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr21:47754602G>T	ENST00000359568.5	+	3	666	c.559G>T	c.(559-561)Gtc>Ttc	p.V187F	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	187					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GATGTTCACAGTCAGTGACCA	0.507																																					p.V187F		.											.	PCNT	141	0			c.G559T						.						202.0	144.0	163.0					21																	47754602		2203	4300	6503	SO:0001583	missense	5116	exon3			TTCACAGTCAGTG	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.559G>T	21.37:g.47754602G>T	ENSP00000352572:p.Val187Phe	309.0	0.0		319.0	38.0	NM_006031	O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	G	1.081	-0.667051	0.03428	.	.	ENSG00000160299	ENST00000359568;ENST00000337772	T	0.02177	4.41	0.235	-0.47	0.12131	.	.	.	.	.	T	0.01254	0.0041	L	0.27053	0.805	0.09310	N	1	B;B	0.30236	0.274;0.18	B;B	0.18263	0.021;0.009	T	0.48536	-0.9027	8	0.15952	T	0.53	.	.	.	.	.	69;187	O95613-2;O95613	.;PCNT_HUMAN	F	187;174	ENSP00000352572:V187F	ENSP00000338675:V174F	V	+	1	0	PCNT	46579030	0.019000	0.18553	0.001000	0.08648	0.001000	0.01503	-1.371000	0.02573	-1.906000	0.01089	-1.922000	0.00515	GTC	.		0.507	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031	
PDE4DIP	9659	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	144931551	144931551	+	Intron	SNP	T	T	C			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr1:144931551T>C	ENST00000369354.3	-	6	826				PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000529945.1_Missense_Mutation_p.K53R|PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.K53R|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000369351.3_Intron			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein						cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GAAAGCACACTTGCTGCAAGC	0.517			T	PDGFRB	MPD																																p.K53R		.		Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	.	PDE4DIP	663	0			c.A158G						.						98.0	100.0	100.0					1																	144931551		2203	4300	6503	SO:0001627	intron_variant	9659	exon1			GCACACTTGCTGC	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.637-7730A>G	1.37:g.144931551T>C		240.0	0.0		267.0	13.0	NM_001002811	A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.477935	0.84747	.	.	ENSG00000178104	ENST00000369353;ENST00000313431;ENST00000529945	T;T	0.31247	1.5;1.54	5.3	5.3	0.74995	.	.	.	.	.	T	0.44519	0.1297	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.49331	-0.8951	9	0.87932	D	0	.	13.1866	0.59684	0.0:0.0:0.0:1.0	.	53	Q5VU43-2	.	R	53	ENSP00000316434:K53R;ENSP00000433392:K53R	ENSP00000316434:K53R	K	-	2	0	PDE4DIP	143642908	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	8.040000	0.89188	1.996000	0.58369	0.379000	0.24179	AAG	.		0.517	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359	
PDC	5132	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	1	186413279	186413279	+	Silent	SNP	G	G	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr1:186413279G>T	ENST00000391997.2	-	4	660	c.573C>A	c.(571-573)atC>atA	p.I191I	PDC_ENST00000340129.5_Silent_p.I191I|PDC_ENST00000456239.2_Silent_p.I139I|PDC_ENST00000497198.1_Silent_p.I139I	NM_002597.4	NP_002588.3	P20941	PHOS_HUMAN	phosducin	191	Thioredoxin fold. {ECO:0000250}.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of catalytic activity (GO:0043086)|phototransduction (GO:0007602)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)	phospholipase inhibitor activity (GO:0004859)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7		Breast(1374;1.53e-05)		KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.0129)		CACCTTTATAGATGAGCAGTG	0.383																																					p.I191I		.											.	PDC	91	0			c.C573A						.						82.0	81.0	82.0					1																	186413279		2203	4300	6503	SO:0001819	synonymous_variant	5132	exon4			TTTATAGATGAGC	AF076464	CCDS1370.1, CCDS41447.1	1q25.2	2013-01-08			ENSG00000116703	ENSG00000116703			8759	protein-coding gene	gene with protein product		171490				8288249	Standard	NM_022576		Approved	MEKA	uc001gsa.4	P20941	OTTHUMG00000035575	ENST00000391997.2:c.573C>A	1.37:g.186413279G>T		92.0	0.0		164.0	13.0	NM_002597	Q14816|Q9UP22|Q9UP23	Silent	SNP	ENST00000391997.2	37	CCDS1370.1																																																																																			.		0.383	PDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086347.2	NM_022577	
PDHA1	5160	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	19371270	19371270	+	Silent	SNP	C	C	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chrX:19371270C>T	ENST00000422285.2	+	5	594	c.489C>T	c.(487-489)ggC>ggT	p.G163G	PDHA1_ENST00000379806.5_Silent_p.G201G|PDHA1_ENST00000545074.1_Silent_p.G170G|PDHA1_ENST00000540249.1_Silent_p.G163G|PDHA1_ENST00000379804.1_5'Flank|PDHA1_ENST00000379805.3_Silent_p.G163G			P08559	ODPA_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 1	163					acetyl-CoA biosynthetic process from pyruvate (GO:0006086)|cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pyruvate dehydrogenase complex (GO:0045254)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)|pyruvate dehydrogenase activity (GO:0004738)			endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)					TCTACGGGGGCAATGGCATCG	0.498																																					p.G201G		.											.	PDHA1	227	0			c.C603T						.						207.0	155.0	173.0					X																	19371270		2203	4300	6503	SO:0001819	synonymous_variant	5160	exon6			CGGGGGCAATGGC		CCDS14192.1, CCDS55380.1, CCDS55381.1, CCDS55382.1	Xp22.1	2008-02-05			ENSG00000131828	ENSG00000131828	1.2.4.1		8806	protein-coding gene	gene with protein product		300502		PDHA			Standard	NM_001173454		Approved		uc004czh.4	P08559	OTTHUMG00000021224	ENST00000422285.2:c.489C>T	X.37:g.19371270C>T		325.0	1.0		308.0	54.0	NM_001173454	A5YVE9|B2R5P7|B7Z3T7|B7Z3X5|Q53H41|Q5JPT8|Q9NP12|Q9UBJ8|Q9UBU0|Q9UNG4|Q9UNG5	Silent	SNP	ENST00000422285.2	37	CCDS14192.1																																																																																			.		0.498	PDHA1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055977.1		
PELP1	27043	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	17	4576104	4576104	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr17:4576104C>T	ENST00000574876.1	-	16	2199	c.2182G>A	c.(2182-2184)Gag>Aag	p.E728K	PELP1_ENST00000301396.4_Missense_Mutation_p.E872K|AC091153.4_ENST00000441700.2_RNA|PELP1_ENST00000572293.1_Missense_Mutation_p.E778K|PELP1_ENST00000436683.2_Missense_Mutation_p.E581K|PELP1_ENST00000269230.7_Missense_Mutation_p.E638K			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	728	Pro-rich.				cellular response to estrogen stimulus (GO:0071391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						CGGTGGTTCTCAGGGCCAGGA	0.627																																					p.E728K		.											.	PELP1	24	0			c.G2182A						.						24.0	27.0	26.0					17																	4576104		1906	4114	6020	SO:0001583	missense	27043	exon16			GGTTCTCAGGGCC		CCDS58503.1, CCDS58503.2, CCDS62038.1	17p13.2	2012-05-02	2008-02-21			ENSG00000141456			30134	protein-coding gene	gene with protein product		609455	"""proline, glutamic acid and leucine rich protein 1"""			11481323, 12682072	Standard	NM_014389		Approved	MNAR	uc002fyi.4	Q8IZL8		ENST00000574876.1:c.2182G>A	17.37:g.4576104C>T	ENSP00000461625:p.Glu728Lys	78.0	0.0		64.0	26.0	NM_014389	O15450|Q5EGN3|Q6NTE6|Q96FT1|Q9BU60	Missense_Mutation	SNP	ENST00000574876.1	37	CCDS58503.1	.	.	.	.	.	.	.	.	.	.	C	12.63	1.995978	0.35226	.	.	ENSG00000141456	ENST00000301396;ENST00000269230;ENST00000436683	T;T;T	0.56776	0.44;0.64;1.07	5.4	5.4	0.78164	.	0.436543	0.21440	N	0.074508	T	0.32585	0.0834	N	0.24115	0.695	0.32589	N	0.527431	P;P	0.43231	0.664;0.801	B;B	0.38500	0.275;0.275	T	0.31613	-0.9937	10	0.06891	T	0.86	-21.713	10.1651	0.42875	0.0:0.9095:0.0:0.0905	.	581;728	E7EV54;Q8IZL8	.;PELP1_HUMAN	K	872;638;581	ENSP00000301396:E872K;ENSP00000269230:E638K;ENSP00000416231:E581K	ENSP00000269230:E638K	E	-	1	0	AC091153.1	4522853	0.906000	0.30813	1.000000	0.80357	0.948000	0.59901	0.897000	0.28390	2.526000	0.85167	0.561000	0.74099	GAG	.		0.627	PELP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000439140.2	NM_014389	
PELP1	27043	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	4576404	4576404	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr17:4576404C>T	ENST00000574876.1	-	16	1899	c.1882G>A	c.(1882-1884)Gct>Act	p.A628T	PELP1_ENST00000301396.4_Missense_Mutation_p.A772T|AC091153.4_ENST00000441700.2_RNA|PELP1_ENST00000572293.1_Missense_Mutation_p.A678T|PELP1_ENST00000436683.2_Missense_Mutation_p.A481T|PELP1_ENST00000269230.7_Missense_Mutation_p.A540T			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	628					cellular response to estrogen stimulus (GO:0071391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						GTCAGAGCAGCACAGGTCACC	0.602																																					p.A628T		.											.	PELP1	24	0			c.G1882A						.						22.0	25.0	24.0					17																	4576404		1958	4123	6081	SO:0001583	missense	27043	exon16			GAGCAGCACAGGT		CCDS58503.1, CCDS58503.2, CCDS62038.1	17p13.2	2012-05-02	2008-02-21			ENSG00000141456			30134	protein-coding gene	gene with protein product		609455	"""proline, glutamic acid and leucine rich protein 1"""			11481323, 12682072	Standard	NM_014389		Approved	MNAR	uc002fyi.4	Q8IZL8		ENST00000574876.1:c.1882G>A	17.37:g.4576404C>T	ENSP00000461625:p.Ala628Thr	83.0	0.0		74.0	25.0	NM_014389	O15450|Q5EGN3|Q6NTE6|Q96FT1|Q9BU60	Missense_Mutation	SNP	ENST00000574876.1	37	CCDS58503.1	.	.	.	.	.	.	.	.	.	.	C	12.81	2.049441	0.36181	.	.	ENSG00000141456	ENST00000301396;ENST00000269230;ENST00000436683	T;T;T	0.51817	0.94;0.69;1.58	5.92	4.94	0.65067	Uncharacterised domain NUC202 (1);	0.326300	0.33092	N	0.005282	T	0.21921	0.0528	N	0.01874	-0.695	0.34443	D	0.699862	P;P	0.36683	0.565;0.565	B;B	0.37015	0.239;0.239	T	0.34453	-0.9828	10	0.15952	T	0.53	-14.3778	12.6748	0.56887	0.1642:0.8357:0.0:0.0	.	481;628	E7EV54;Q8IZL8	.;PELP1_HUMAN	T	772;540;481	ENSP00000301396:A772T;ENSP00000269230:A540T;ENSP00000416231:A481T	ENSP00000269230:A540T	A	-	1	0	AC091153.1	4523153	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.864000	0.39469	1.483000	0.48342	0.655000	0.94253	GCT	.		0.602	PELP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000439140.2	NM_014389	
JADE2	23338	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	133914456	133914456	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr5:133914456C>T	ENST00000282605.4	+	12	2040	c.1954C>T	c.(1954-1956)Cca>Tca	p.P652S	PHF15_ENST00000361895.2_Missense_Mutation_p.P609S|PHF15_ENST00000402835.1_3'UTR|PHF15_ENST00000395003.1_Missense_Mutation_p.P608S																NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GAAACCACCACCACCACCACC	0.662																																					p.P608S		.											.	PHF15	90	0			c.C1822T						.						38.0	41.0	40.0					5																	133914456		2203	4299	6502	SO:0001583	missense	23338	exon11			CCACCACCACCAC																												ENST00000282605.4:c.1954C>T	5.37:g.133914456C>T	ENSP00000282605:p.Pro652Ser	92.0	0.0		74.0	19.0	NM_015288		Missense_Mutation	SNP	ENST00000282605.4	37		.	.	.	.	.	.	.	.	.	.	c	1.629	-0.519539	0.04171	.	.	ENSG00000043143	ENST00000448712;ENST00000282605;ENST00000361895;ENST00000432594;ENST00000395003	T;T;T	0.40476	1.03;1.05;1.05	2.62	2.62	0.31277	.	1.120060	0.06720	N	0.774630	T	0.16171	0.0389	N	0.02011	-0.69	0.22693	N	0.998845	B;B;P	0.41673	0.421;0.231;0.759	B;B;B	0.37267	0.109;0.037;0.245	T	0.02020	-1.1228	10	0.07813	T	0.8	.	9.2958	0.37815	0.0:1.0:0.0:0.0	.	608;609;668	Q9NQC1;D3DQA3;B3KPL2	JADE2_HUMAN;.;.	S	668;652;609;609;608	ENSP00000282605:P652S;ENSP00000354425:P609S;ENSP00000378451:P608S	ENSP00000282605:P652S	P	+	1	0	PHF15	133942355	0.025000	0.19082	0.137000	0.22149	0.184000	0.23303	0.399000	0.20916	1.401000	0.46761	0.306000	0.20318	CCA	.		0.662	PHF15-003	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000251170.1		
PHRF1	57661	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	611702	611702	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr11:611702C>A	ENST00000264555.5	+	18	5003	c.4875C>A	c.(4873-4875)gaC>gaA	p.D1625E	PHRF1_ENST00000413872.2_Missense_Mutation_p.D1623E|PHRF1_ENST00000416188.2_Missense_Mutation_p.D1624E|PHRF1_ENST00000533464.1_Missense_Mutation_p.D1621E	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	1625					mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						CGTACGTGGACAAGTACAGGC	0.617																																					p.D1624E		.											.	PHRF1	22	0			c.C4872A						.						55.0	61.0	59.0					11																	611702		2138	4264	6402	SO:0001583	missense	57661	exon18			CGTGGACAAGTAC	BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	24351	protein-coding gene	gene with protein product	"""CTD binding SR like protein rA9"", ""protein phosphatase 1, regulatory subunit 125"""	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.4875C>A	11.37:g.611702C>A	ENSP00000264555:p.Asp1625Glu	66.0	0.0		81.0	9.0	NM_020901	A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Missense_Mutation	SNP	ENST00000264555.5	37		.	.	.	.	.	.	.	.	.	.	C	10.15	1.271567	0.23221	.	.	ENSG00000070047	ENST00000264555;ENST00000413872;ENST00000416188;ENST00000533464	T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03	4.58	-0.252	0.12999	.	0.201391	0.24920	N	0.034546	T	0.47303	0.1438	L	0.42245	1.32	0.32907	D	0.514006	B;B;B;B	0.31548	0.15;0.328;0.099;0.06	B;B;B;B	0.37015	0.046;0.239;0.069;0.031	T	0.42816	-0.9429	10	0.30854	T	0.27	-32.3459	2.791	0.05388	0.153:0.3802:0.3095:0.1572	.	1621;1623;1624;1625	E9PJ24;F8WEF5;Q9P1Y6-3;Q9P1Y6	.;.;.;PHRF1_HUMAN	E	1625;1623;1624;1621	ENSP00000264555:D1625E;ENSP00000388589:D1623E;ENSP00000410626:D1624E;ENSP00000431870:D1621E	ENSP00000264555:D1625E	D	+	3	2	PHRF1	601702	0.974000	0.33945	0.992000	0.48379	0.174000	0.22865	0.139000	0.16036	-0.053000	0.13289	-1.134000	0.01955	GAC	.		0.617	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382133.1	NM_020901	
PIK3C2G	5288	hgsc.bcm.edu;broad.mit.edu	37	12	18552717	18552717	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr12:18552717C>T	ENST00000266497.5	+	14	2166	c.2128C>T	c.(2128-2130)Cat>Tat	p.H710Y	PIK3C2G_ENST00000433979.1_Missense_Mutation_p.H710Y|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.H751Y			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	710	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TTCAGAAATGCATACCATTTT	0.408																																					p.H710Y		.											.	PIK3C2G	1312	0			c.C2128T						.						87.0	86.0	86.0					12																	18552717		1850	4095	5945	SO:0001583	missense	5288	exon15			GAAATGCATACCA	AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"""phosphoinositide-3-kinase, class 2, gamma polypeptide"""			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.2128C>T	12.37:g.18552717C>T	ENSP00000266497:p.His710Tyr	100.0	0.0		84.0	4.0	NM_004570	A1L3U0	Missense_Mutation	SNP	ENST00000266497.5	37	CCDS44839.1	.	.	.	.	.	.	.	.	.	.	C	1.214	-0.628771	0.03610	.	.	ENSG00000139144	ENST00000433979;ENST00000266497;ENST00000538779	T;T;T	0.61158	0.13;0.13;0.13	5.08	3.13	0.36017	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.255174	0.32970	N	0.005432	T	0.22820	0.0551	N	0.05230	-0.09	0.33701	D	0.614569	B;B;B	0.29955	0.263;0.222;0.15	B;B;B	0.26770	0.073;0.044;0.041	T	0.32613	-0.9900	10	0.02654	T	1	-8.4714	1.4909	0.02456	0.1841:0.4398:0.2092:0.1669	.	750;751;710	B7ZLY6;F5H369;O75747	.;.;P3C2G_HUMAN	Y	710;710;751	ENSP00000404845:H710Y;ENSP00000266497:H710Y;ENSP00000445381:H751Y	ENSP00000266497:H710Y	H	+	1	0	PIK3C2G	18443984	1.000000	0.71417	0.971000	0.41717	0.803000	0.45373	1.742000	0.38248	1.330000	0.45394	0.585000	0.79938	CAT	.		0.408	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570	
PIPSL	266971	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	95719293	95719293	+	RNA	SNP	C	C	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr10:95719293C>T	ENST00000480546.1	-	0	2004					NR_002319.2		A2A3N6	PIPSL_HUMAN	PIP5K1A and PSMD4-like, pseudogene							cytoplasm (GO:0005737)	phosphatidylinositol phosphate kinase activity (GO:0016307)										TCAACATTTACTTTCTCCTTC	0.438																																					.		.											.	.	.	0			.						.																																					266971	.			CATTTACTTTCTC	BC068549		10q23.33	2010-10-27	2010-10-27	2007-07-06	ENSG00000180764	ENSG00000180764		"""Proteasome (prosome, macropain) subunits"""	23733	pseudogene	pseudogene			"""proteasome (prosome, macropain) 26S subunit, non-ATPase, 4, pseudogene 2"", ""phosphatidylinositol-4-phosphate 5-kinase, type I-like 1"", ""PIP5K1A and PSMD4-like"""	PSMD4P2, PIP5K1L1		16344562	Standard	NR_002319		Approved	PIP5K1A-PSMD4, PIP5K1P3	uc009xuj.2	A2A3N6	OTTHUMG00000137480		10.37:g.95719293C>T		270.0	0.0		328.0	41.0	.	Q6NUK8	RNA	SNP	ENST00000480546.1	37																																																																																				.		0.438	PIPSL-002	PUTATIVE	basic	processed_transcript	pseudogene	OTTHUMT00000351483.1	NR_002319	
PKD1L1	168507	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	7	47933628	47933628	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr7:47933628C>T	ENST00000289672.2	-	15	2350	c.2300G>A	c.(2299-2301)aGc>aAc	p.S767N		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	767	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						ACAGTAGTTGCTGTACACCAC	0.572																																					p.S767N		.											.	PKD1L1	145	0			c.G2300A						.						90.0	68.0	75.0					7																	47933628		2203	4300	6503	SO:0001583	missense	168507	exon15			TAGTTGCTGTACA	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.2300G>A	7.37:g.47933628C>T	ENSP00000289672:p.Ser767Asn	86.0	0.0		66.0	6.0	NM_138295	Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	c	17.73	3.460343	0.63401	.	.	ENSG00000158683	ENST00000289672	T	0.69806	-0.43	5.23	4.35	0.52113	Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);	0.104209	0.42682	D	0.000675	T	0.78604	0.4309	M	0.63843	1.955	0.25786	N	0.984675	D	0.89917	1.0	D	0.91635	0.999	T	0.71724	-0.4506	10	0.54805	T	0.06	-11.3743	13.6843	0.62506	0.0:0.8439:0.1561:0.0	.	767	Q8TDX9	PK1L1_HUMAN	N	767	ENSP00000289672:S767N	ENSP00000289672:S767N	S	-	2	0	PKD1L1	47900153	1.000000	0.71417	0.179000	0.23059	0.558000	0.35554	3.411000	0.52672	1.197000	0.43143	0.543000	0.68304	AGC	.		0.572	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295	
PKHD1	5314	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	51609291	51609291	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr6:51609291T>C	ENST00000371117.3	-	60	10323	c.10048A>G	c.(10048-10050)Aga>Gga	p.R3350G	PKHD1_ENST00000340994.4_Missense_Mutation_p.R3350G	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3350					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AGATATTTTCTTGGACTTGCA	0.423																																					p.R3350G		.											.	PKHD1	603	0			c.A10048G						.						91.0	89.0	89.0					6																	51609291		2203	4300	6503	SO:0001583	missense	5314	exon60			ATTTTCTTGGACT	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.10048A>G	6.37:g.51609291T>C	ENSP00000360158:p.Arg3350Gly	132.0	0.0		176.0	25.0	NM_170724	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	T	10.92	1.488143	0.26686	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.87966	-2.11;-2.32	5.21	2.81	0.32909	.	0.573790	0.17845	N	0.160070	T	0.66982	0.2845	L	0.41824	1.3	0.18873	N	0.999988	B;B;B	0.14438	0.003;0.01;0.001	B;B;B	0.12156	0.002;0.007;0.002	T	0.60637	-0.7224	10	0.51188	T	0.08	.	7.7127	0.28688	0.0:0.1666:0.0:0.8334	.	3350;3350;3350	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	G	3350	ENSP00000360158:R3350G;ENSP00000341097:R3350G	ENSP00000341097:R3350G	R	-	1	2	PKHD1	51717250	0.976000	0.34144	0.193000	0.23327	0.673000	0.39480	2.284000	0.43478	0.410000	0.25675	0.528000	0.53228	AGA	.		0.423	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694	
PKHD1	5314	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	6	51917941	51917941	+	Silent	SNP	G	G	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr6:51917941G>A	ENST00000371117.3	-	21	2348	c.2073C>T	c.(2071-2073)ctC>ctT	p.L691L	PKHD1_ENST00000340994.4_Silent_p.L691L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	691					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GGGCCAGAGGGAGAAGGTTGA	0.522																																					p.L691L		.											.	PKHD1	603	0			c.C2073T						.						74.0	75.0	75.0					6																	51917941		2203	4300	6503	SO:0001819	synonymous_variant	5314	exon21			CAGAGGGAGAAGG	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.2073C>T	6.37:g.51917941G>A		86.0	0.0		142.0	13.0	NM_170724	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	37	CCDS4935.1																																																																																			.		0.522	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694	
PKHD1L1	93035	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	8	110401347	110401347	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr8:110401347delT	ENST00000378402.5	+	8	767	c.663delT	c.(661-663)ggtfs	p.G221fs		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	221	IPT/TIG 2.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GAGATATGGGTTCTATGGTTT	0.313										HNSCC(38;0.096)																											p.G221fs		.											.	PKHD1L1	145	0			c.663delT						.						203.0	195.0	197.0					8																	110401347		1849	4087	5936	SO:0001589	frameshift_variant	93035	exon8			TATGGGTTCTATG	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.663delT	8.37:g.110401347delT	ENSP00000367655:p.Gly221fs	132.0	0.0		143.0	26.0	NM_177531	Q567P2|Q9UF27	Frame_Shift_Del	DEL	ENST00000378402.5	37	CCDS47911.1																																																																																			.		0.313	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531	
PLA2G4A	5321	broad.mit.edu;bcgsc.ca;mdanderson.org	37	1	186880457	186880457	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr1:186880457T>A	ENST00000367466.3	+	7	646	c.494T>A	c.(493-495)aTa>aAa	p.I165K	PLA2G4A_ENST00000442353.2_Intron|PLA2G4A_ENST00000466600.1_3'UTR	NM_024420.2	NP_077734	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	165	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.|Phospholipid binding. {ECO:0000305}.				arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|blood coagulation (GO:0007596)|cardiolipin acyl-chain remodeling (GO:0035965)|cellular response to antibiotic (GO:0071236)|glycerophospholipid biosynthetic process (GO:0046474)|icosanoid biosynthetic process (GO:0046456)|icosanoid metabolic process (GO:0006690)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|platelet activation (GO:0030168)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Aldesleukin(DB00041)|Carbachol(DB00411)|Carbenicillin(DB00578)|Epirubicin(DB00445)|Fluocinolone Acetonide(DB00591)|Fluticasone Propionate(DB00588)|Niflumic Acid(DB04552)|Orlistat(DB01083)|Quinacrine(DB01103)|Streptokinase(DB00086)|Suramin(DB04786)	AAAGAACACATAAGGGAGAGC	0.393																																					p.I165K		.											.	PLA2G4A	721	0			c.T494A						.						140.0	144.0	143.0					1																	186880457		2203	4300	6503	SO:0001583	missense	5321	exon7			AACACATAAGGGA	M72393	CCDS1372.1	1q25	2014-09-17			ENSG00000116711	ENSG00000116711	3.1.1.4, 3.1.1.5		9035	protein-coding gene	gene with protein product		600522		PLA2G4		8175726	Standard	NM_024420		Approved	cPLA2-alpha	uc001gsc.3	P47712	OTTHUMG00000035512	ENST00000367466.3:c.494T>A	1.37:g.186880457T>A	ENSP00000356436:p.Ile165Lys	157.0	1.0		269.0	17.0	NM_024420	B1AKG4|Q29R80	Missense_Mutation	SNP	ENST00000367466.3	37	CCDS1372.1	.	.	.	.	.	.	.	.	.	.	T	12.99	2.103714	0.37145	.	.	ENSG00000116711	ENST00000367466	T	0.04862	3.54	4.94	4.94	0.65067	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (2);	0.152588	0.64402	D	0.000016	T	0.08268	0.0206	L	0.42245	1.32	0.80722	D	1	B	0.28208	0.203	B	0.31101	0.124	T	0.10567	-1.0624	10	0.72032	D	0.01	-11.6132	12.841	0.57802	0.0:0.0:0.0:1.0	.	165	P47712	PA24A_HUMAN	K	165	ENSP00000356436:I165K	ENSP00000356436:I165K	I	+	2	0	PLA2G4A	185147080	1.000000	0.71417	0.993000	0.49108	0.263000	0.26337	4.508000	0.60441	1.973000	0.57446	0.528000	0.53228	ATA	.		0.393	PLA2G4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086236.1	NM_024420	
PLBD1	79887	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	14706133	14706133	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr12:14706133G>C	ENST00000240617.5	-	2	981	c.329C>G	c.(328-330)aCt>aGt	p.T110S	RN7SKP134_ENST00000363960.1_RNA	NM_024829.5	NP_079105.4	Q6P4A8	PLBL1_HUMAN	phospholipase B domain containing 1	110					glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						TTACGGGGCAGTGAGGTAACC	0.532																																					p.T110S		.											.	PLBD1	90	0			c.C329G						.						68.0	59.0	62.0					12																	14706133		2203	4300	6503	SO:0001583	missense	79887	exon2			GGGGCAGTGAGGT	BC000909	CCDS31751.1	12p13.1	2013-10-11			ENSG00000121316	ENSG00000121316			26215	protein-coding gene	gene with protein product	"""PLB homolog 1 (Dictyostelium)"""					15193148, 19019078	Standard	NM_024829		Approved	FLJ22662	uc001rcc.1	Q6P4A8	OTTHUMG00000168821	ENST00000240617.5:c.329C>G	12.37:g.14706133G>C	ENSP00000240617:p.Thr110Ser	100.0	0.0		137.0	13.0	NM_024829	A8K4E9|Q9BVV3|Q9H625	Missense_Mutation	SNP	ENST00000240617.5	37	CCDS31751.1	.	.	.	.	.	.	.	.	.	.	G	32	5.122416	0.94429	.	.	ENSG00000121316	ENST00000240617;ENST00000540572	T;T	0.21734	1.99;1.99	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.48352	0.1495	M	0.69248	2.105	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.33033	-0.9884	10	0.87932	D	0	-21.8403	19.0599	0.93085	0.0:0.0:1.0:0.0	.	110	Q6P4A8	PLBL1_HUMAN	S	110;63	ENSP00000240617:T110S;ENSP00000438367:T63S	ENSP00000240617:T110S	T	-	2	0	PLBD1	14597400	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.506000	0.90518	2.941000	0.99782	0.655000	0.94253	ACT	.		0.532	PLBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401203.1	NM_024829	
PLCB3	5331	broad.mit.edu;ucsc.edu;mdanderson.org	37	11	64030000	64030000	+	Silent	SNP	G	G	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr11:64030000G>A	ENST00000540288.1	+	18	2263	c.2160G>A	c.(2158-2160)gtG>gtA	p.V720V	PLCB3_ENST00000279230.6_Silent_p.V720V|PLCB3_ENST00000325234.5_Silent_p.V653V	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	720	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|regulation of systemic arterial blood pressure (GO:0003073)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						AGGTCATCGTGGATGGCATCG	0.657																																					p.V720V		.											.	PLCB3	228	0			c.G2160A						.						67.0	72.0	70.0					11																	64030000		2201	4297	6498	SO:0001819	synonymous_variant	5331	exon18			CATCGTGGATGGC	Z26649	CCDS8064.1, CCDS53654.1	11q13	2008-03-18			ENSG00000149782	ENSG00000149782	3.1.4.11		9056	protein-coding gene	gene with protein product		600230				7849701	Standard	NM_000932		Approved		uc009ypg.2	Q01970	OTTHUMG00000167816	ENST00000540288.1:c.2160G>A	11.37:g.64030000G>A		53.0	1.0		42.0	5.0	NM_000932	A5PKZ6|G5E960|Q8N1A4	Silent	SNP	ENST00000540288.1	37	CCDS8064.1																																																																																			.		0.657	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396405.1		
PLCE1	51196	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	10	95791760	95791760	+	Silent	SNP	G	G	A	rs573916830	byFrequency	TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr10:95791760G>A	ENST00000371380.3	+	1	1192	c.957G>A	c.(955-957)aaG>aaA	p.K319K	PLCE1_ENST00000260766.3_Silent_p.K319K			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	319					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AAAGCAAAAAGGAGCGATCCA	0.388																																					p.K319K		.											.	PLCE1	229	0			c.G957A						.						114.0	112.0	113.0					10																	95791760		1853	4088	5941	SO:0001819	synonymous_variant	51196	exon2			CAAAAAGGAGCGA		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.957G>A	10.37:g.95791760G>A		110.0	0.0		134.0	13.0	NM_016341	A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Silent	SNP	ENST00000371380.3	37	CCDS41552.1																																																																																			.		0.388	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341	
POM121L2	94026	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	6	27279209	27279209	+	Silent	SNP	G	G	A	rs375438522		TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr6:27279209G>A	ENST00000444565.1	-	1	740	c.741C>T	c.(739-741)ggC>ggT	p.G247G	POM121L2_ENST00000377451.2_Silent_p.G247G	NM_033482.3	NP_258443.2	Q96KW2	P12L2_HUMAN	POM121 transmembrane nucleoporin-like 2	247										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1)	7						AGCTGAGGGTGCCACCTCTGT	0.507																																					p.G247G		.											.	.	.	0			c.C741T						.						29.0	25.0	26.0					6																	27279209		692	1591	2283	SO:0001819	synonymous_variant	94026	exon1			GAGGGTGCCACCT	AL021808	CCDS59497.1	6p21.3	2012-03-13	2012-03-13		ENSG00000158553	ENSG00000158553			13973	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 2 (rat)"", ""POM121 membrane glycoprotein-like 2"""				Standard	NM_033482		Approved	POM121-L	uc011dku.1	Q96KW2	OTTHUMG00000014475	ENST00000444565.1:c.741C>T	6.37:g.27279209G>A		74.0	0.0		100.0	7.0	NM_033482	C9J1I7	Silent	SNP	ENST00000444565.1	37	CCDS59497.1																																																																																			.		0.507	POM121L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040143.2	NM_033482	
PLG	5340	hgsc.bcm.edu;broad.mit.edu	37	6	161137785	161137785	+	Silent	SNP	C	C	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr6:161137785C>T	ENST00000308192.9	+	7	840	c.777C>T	c.(775-777)atC>atT	p.I259I		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	259	Kringle 2. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TTTGTGACATCCCCCGCTGCA	0.517																																					p.I259I		.											.	PLG	94	0			c.C777T						.						65.0	61.0	62.0					6																	161137785		2203	4300	6503	SO:0001819	synonymous_variant	5340	exon7			TGACATCCCCCGC	M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.777C>T	6.37:g.161137785C>T		76.0	0.0		112.0	5.0	NM_000301	Q15146|Q5TEH4|Q6PA00	Silent	SNP	ENST00000308192.9	37	CCDS5279.1																																																																																			.		0.517	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301	
PRAMEF2	65122	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	12919960	12919960	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr1:12919960C>T	ENST00000240189.2	+	3	787	c.700C>T	c.(700-702)Ctt>Ttt	p.L234F		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	234					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GATGAAGACTCTTTGCAAACT	0.423																																					p.L234F		.											.	PRAMEF2	68	0			c.C700T						.						110.0	114.0	113.0					1																	12919960		2203	4299	6502	SO:0001583	missense	65122	exon3			AAGACTCTTTGCA		CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"""-"""	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.700C>T	1.37:g.12919960C>T	ENSP00000240189:p.Leu234Phe	171.0	0.0		145.0	32.0	NM_023014		Missense_Mutation	SNP	ENST00000240189.2	37	CCDS149.1	.	.	.	.	.	.	.	.	.	.	C	10.46	1.356756	0.24598	.	.	ENSG00000120952	ENST00000240189	T	0.02863	4.13	0.842	-0.495	0.12030	.	0.181875	0.36409	N	0.002604	T	0.13114	0.0318	M	0.90483	3.12	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.04242	-1.0966	10	0.87932	D	0	.	4.5732	0.12219	0.0:0.5898:0.4102:0.0	.	234	O60811	PRAM2_HUMAN	F	234	ENSP00000240189:L234F	ENSP00000240189:L234F	L	+	1	0	PRAMEF2	12842547	0.000000	0.05858	0.001000	0.08648	0.022000	0.10575	-1.613000	0.02059	-0.146000	0.11274	0.194000	0.17425	CTT	.		0.423	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005517.1	NM_023014	
PRKAB2	5565	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	146634090	146634090	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr1:146634090T>C	ENST00000254101.3	-	6	739	c.601A>G	c.(601-603)Aga>Gga	p.R201G	PRKAB2_ENST00000425272.2_Missense_Mutation_p.R119G|PRKAB2_ENST00000496858.1_5'Flank	NM_005399.3	NP_005390.1	O43741	AAKB2_HUMAN	protein kinase, AMP-activated, beta 2 non-catalytic subunit	201					carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|insulin receptor signaling pathway (GO:0008286)|membrane organization (GO:0061024)|protein phosphorylation (GO:0006468)|regulation of fatty acid biosynthetic process (GO:0042304)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	identical protein binding (GO:0042802)	p.R201*(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.0487)				Acetylsalicylic acid(DB00945)|Adenosine monophosphate(DB00131)	GATTTGAATCTTTCCTCAGAT	0.408																																					p.R201G		.											.	PRKAB2	659	1	Substitution - Nonsense(1)	upper_aerodigestive_tract(1)	c.A601G						.						108.0	105.0	106.0					1																	146634090		2203	4300	6503	SO:0001583	missense	5565	exon6			TGAATCTTTCCTC	BC053610	CCDS925.1	1q21.2	2008-02-05			ENSG00000131791	ENSG00000131791			9379	protein-coding gene	gene with protein product	"""AMPK beta 2"""	602741				8557660	Standard	NM_005399		Approved		uc001epe.3	O43741	OTTHUMG00000014032	ENST00000254101.3:c.601A>G	1.37:g.146634090T>C	ENSP00000254101:p.Arg201Gly	104.0	0.0		143.0	14.0	NM_005399	A8K9V5|B4DH06|Q5VXY0	Missense_Mutation	SNP	ENST00000254101.3	37	CCDS925.1	.	.	.	.	.	.	.	.	.	.	T	15.86	2.959026	0.53400	.	.	ENSG00000131791	ENST00000254101;ENST00000425272	.	.	.	5.74	3.59	0.41128	5-AMP-activated protein kinase, beta subunit, interaction domain (1);	0.048455	0.85682	D	0.000000	T	0.28732	0.0712	L	0.43923	1.385	0.52099	D	0.999943	B;B	0.17465	0.005;0.022	B;B	0.18263	0.008;0.021	T	0.15521	-1.0434	9	0.56958	D	0.05	.	6.3918	0.21591	0.1209:0.0:0.4538:0.4254	.	119;201	B4DH06;O43741	.;AAKB2_HUMAN	G	201;119	.	ENSP00000254101:R201G	R	-	1	2	PRKAB2	145100714	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.991000	0.56973	0.472000	0.27344	0.533000	0.62120	AGA	.		0.408	PRKAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039471.1	NM_005399	
PRKCB	5579	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	16	24202416	24202416	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr16:24202416delG	ENST00000321728.7	+	16	1903	c.1728delG	c.(1726-1728)atgfs	p.M576fs	PRKCB_ENST00000303531.7_Frame_Shift_Del_p.M576fs	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	576	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	CGAAGCTGATGACCAAACACC	0.403																																					p.M576fs		.											.	PRKCB	1530	0			c.1728delG						.						79.0	78.0	78.0					16																	24202416		2197	4300	6497	SO:0001589	frameshift_variant	5579	exon16			GCTGATGACCAAA	M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"""protein kinase C, beta 1"""	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.1728delG	16.37:g.24202416delG	ENSP00000318315:p.Met576fs	118.0	0.0		98.0	29.0	NM_212535	C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Frame_Shift_Del	DEL	ENST00000321728.7	37	CCDS10618.1																																																																																			.		0.403	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2	NM_212535	
PROS1	5627	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	93624977	93624977	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr3:93624977G>T	ENST00000394236.3	-	5	673	c.357C>A	c.(355-357)gaC>gaA	p.D119E	PROS1_ENST00000407433.1_5'UTR	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	119	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|negative regulation of endopeptidase activity (GO:0010951)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|endopeptidase inhibitor activity (GO:0004866)			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	GACTACACTGGTCTGGAATGG	0.358																																					p.D119E		.											.	PROS1	153	0			c.C357A						.						102.0	105.0	104.0					3																	93624977		2203	4300	6503	SO:0001583	missense	5627	exon5			ACACTGGTCTGGA		CCDS2923.1	3q11.1	2013-06-03			ENSG00000184500	ENSG00000184500			9456	protein-coding gene	gene with protein product		176880		PROS		214811, 1833851	Standard	NM_000313		Approved		uc003drb.4	P07225	OTTHUMG00000150354	ENST00000394236.3:c.357C>A	3.37:g.93624977G>T	ENSP00000377783:p.Asp119Glu	191.0	1.0		201.0	30.0	NM_000313	A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Missense_Mutation	SNP	ENST00000394236.3	37	CCDS2923.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.857780	0.51376	.	.	ENSG00000184500	ENST00000394236;ENST00000348974	D;D	0.91686	-2.89;-2.19	4.44	2.59	0.31030	Epidermal growth factor-like, type 3 (1);	0.290270	0.36268	N	0.002689	D	0.90130	0.6916	M	0.79614	2.46	0.80722	D	1	P	0.46784	0.884	B	0.41466	0.358	D	0.86904	0.2056	10	0.52906	T	0.07	.	7.5735	0.27922	0.2731:0.0:0.7269:0.0	.	119	P07225	PROS_HUMAN	E	119;151	ENSP00000377783:D119E;ENSP00000330021:D151E	ENSP00000330021:D151E	D	-	3	2	PROS1	95107667	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	1.728000	0.38105	0.477000	0.27464	0.484000	0.47621	GAC	.		0.358	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317762.1	NM_000313	
PSD2	84249	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	139219614	139219614	+	Silent	SNP	G	G	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr5:139219614G>A	ENST00000274710.3	+	14	2176	c.1971G>A	c.(1969-1971)gaG>gaA	p.E657E		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	657					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTTGCAGGAGGAGCAACTGC	0.547																																					p.E657E		.											.	PSD2	91	0			c.G1971A						.						82.0	76.0	78.0					5																	139219614		2203	4300	6503	SO:0001819	synonymous_variant	84249	exon14			GCAGGAGGAGCAA	AL136559	CCDS4216.1	5q31.3	2013-01-10			ENSG00000146005	ENSG00000146005		"""Pleckstrin homology (PH) domain containing"""	19092	protein-coding gene	gene with protein product							Standard	NM_032289		Approved	DKFZp761B0514	uc003leu.1	Q9BQI7	OTTHUMG00000129240	ENST00000274710.3:c.1971G>A	5.37:g.139219614G>A		173.0	0.0		159.0	18.0	NM_032289	D3DQD3|Q8N3J8	Silent	SNP	ENST00000274710.3	37	CCDS4216.1																																																																																			.		0.547	PSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251339.1	NM_032289	
PTGR1	22949	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	114348379	114348379	+	Silent	SNP	T	T	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr9:114348379T>A	ENST00000407693.2	-	5	538	c.276A>T	c.(274-276)acA>acT	p.T92T	PTGR1_ENST00000538962.1_Silent_p.T92T|PTGR1_ENST00000309195.5_Silent_p.T92T|PTGR1_ENST00000238248.3_5'UTR	NM_001146108.1	NP_001139580.1	Q14914	PTGR1_HUMAN	prostaglandin reductase 1	92					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|leukotriene metabolic process (GO:0006691)|lipoxin metabolic process (GO:2001300)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	13-prostaglandin reductase activity (GO:0036132)|15-oxoprostaglandin 13-oxidase activity (GO:0047522)|2-alkenal reductase [NAD(P)] activity (GO:0032440)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)	11						TGGAGTGCGTTGTCCAGCCTG	0.463																																					p.T92T	Ovarian(200;132 2151 7551 19220 46064)	.											.	PTGR1	90	0			c.A276T						.						163.0	131.0	142.0					9																	114348379		2203	4300	6503	SO:0001819	synonymous_variant	22949	exon5			GTGCGTTGTCCAG	D49387	CCDS6779.1, CCDS55331.1	9q32	2008-06-04	2008-06-02	2008-06-02	ENSG00000106853	ENSG00000106853	1.3.1.74, 1.3.1.48		18429	protein-coding gene	gene with protein product	"""zinc binding alcohol dehydrogenase domain containing 3"""	601274	"""leukotriene B4 12-hydroxydehydrogenase"""	LTB4DH		8576264, 17449869	Standard	NM_001146109		Approved	ZADH3	uc004bfh.2	Q14914	OTTHUMG00000020493	ENST00000407693.2:c.276A>T	9.37:g.114348379T>A		264.0	0.0		219.0	41.0	NM_001146108	A8K0N2|B4DPK3|F5GY50|Q8IYQ0|Q9H1X6	Silent	SNP	ENST00000407693.2	37	CCDS6779.1																																																																																			.		0.463	PTGR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053647.2		
PTPRO	5800	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	15652426	15652426	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr12:15652426T>A	ENST00000281171.4	+	4	889	c.559T>A	c.(559-561)Tat>Aat	p.Y187N	PTPRO_ENST00000348962.2_Missense_Mutation_p.Y187N|PTPRO_ENST00000543886.1_Missense_Mutation_p.Y187N	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	187	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				AGGAATGTGTTATAGTAATAT	0.368																																					p.Y187N		.											.	PTPRO	271	0			c.T559A						.						100.0	102.0	101.0					12																	15652426		2203	4300	6503	SO:0001583	missense	5800	exon4			ATGTGTTATAGTA	U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9678	protein-coding gene	gene with protein product	"""osteoclastic transmembrane protein-tyrosine phosphatase"""	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.559T>A	12.37:g.15652426T>A	ENSP00000281171:p.Tyr187Asn	152.0	1.0		172.0	39.0	NM_002848	A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Missense_Mutation	SNP	ENST00000281171.4	37	CCDS8675.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.332294	0.81801	.	.	ENSG00000151490	ENST00000281171;ENST00000543886;ENST00000348962	T;T	0.12147	2.81;2.71	4.99	4.99	0.66335	.	0.000000	0.44285	D	0.000465	T	0.24586	0.0596	N	0.24115	0.695	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.998;0.996	T	0.03933	-1.0991	10	0.72032	D	0.01	.	14.8511	0.70297	0.0:0.0:0.0:1.0	.	187;187;187	Q16827-2;Q16827;Q8IYG3	.;PTPRO_HUMAN;.	N	187	ENSP00000281171:Y187N;ENSP00000343434:Y187N	ENSP00000281171:Y187N	Y	+	1	0	PTPRO	15543693	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.521000	0.81832	2.089000	0.63090	0.528000	0.53228	TAT	.		0.368	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1		
PTPRQ	374462	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	81014030	81014030	+	Silent	SNP	A	A	G			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr12:81014030A>G	ENST00000266688.5	+	37	5475	c.5475A>G	c.(5473-5475)acA>acG	p.T1825T				Q9UMZ3	PTPRQ_HUMAN	protein tyrosine phosphatase, receptor type, Q	1871					regulation of fat cell differentiation (GO:0045598)	integral component of membrane (GO:0016021)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(7)|kidney(9)|lung(2)|prostate(1)|skin(2)|stomach(2)	24						CTCCATGTACAGAAGGAAAGA	0.373																																					p.T1657T		.											.	.	.	0			c.A4971G						.						152.0	117.0	128.0					12																	81014030		692	1590	2282	SO:0001819	synonymous_variant	374462	exon29			ATGTACAGAAGGA	AF169351	CCDS73501.1	12q21.31	2013-02-11	2001-12-04		ENSG00000139304	ENSG00000139304		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9679	protein-coding gene	gene with protein product		603317	"""deafness, autosomal recessive 84"""	DFNB84		20346435	Standard	NM_001145026		Approved		uc001sze.2	Q9UMZ3	OTTHUMG00000170171	ENST00000266688.5:c.5475A>G	12.37:g.81014030A>G		175.0	0.0		189.0	53.0	NM_001145026		Silent	SNP	ENST00000266688.5	37		.	.	.	.	.	.	.	.	.	.	A	8.173	0.792023	0.16258	.	.	ENSG00000139304	ENST00000532722	.	.	.	5.29	-2.68	0.06041	.	.	.	.	.	T	0.49729	0.1574	.	.	.	0.43688	D	0.996138	.	.	.	.	.	.	T	0.43343	-0.9397	4	.	.	.	.	6.1526	0.20320	0.4049:0.2491:0.346:0.0	.	.	.	.	R	1526	.	.	Q	+	2	0	PTPRQ	79538161	0.319000	0.24607	0.806000	0.32338	0.987000	0.75469	0.506000	0.22658	-0.404000	0.07610	0.454000	0.30748	CAG	.		0.373	PTPRQ-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001145026	
RAB3GAP2	25782	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	220387288	220387288	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr1:220387288T>C	ENST00000358951.2	-	3	330	c.214A>G	c.(214-216)Act>Gct	p.T72A		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	72					establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme activator activity (GO:0008047)|enzyme regulator activity (GO:0030234)|GTPase activator activity (GO:0005096)|protein heterodimerization activity (GO:0046982)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		AGCCAGGAAGTTTTTTGTGTT	0.383																																					p.T72A		.											.	RAB3GAP2	90	0			c.A214G						.						116.0	110.0	112.0					1																	220387288		2203	4300	6503	SO:0001583	missense	25782	exon3			AGGAAGTTTTTTG	AB020646	CCDS31028.1	1q41	2014-03-03			ENSG00000118873	ENSG00000118873			17168	protein-coding gene	gene with protein product		609275				15696165, 16532399, 24482476	Standard	NM_012414		Approved	RAB3-GAP150, KIAA0839, DKFZP434D245, SPG69	uc010puk.1	Q9H2M9	OTTHUMG00000037139	ENST00000358951.2:c.214A>G	1.37:g.220387288T>C	ENSP00000351832:p.Thr72Ala	147.0	0.0		282.0	32.0	NM_012414	A6H8V0|O75872|Q9HAB0|Q9UFJ7|Q9UQ15	Missense_Mutation	SNP	ENST00000358951.2	37	CCDS31028.1	.	.	.	.	.	.	.	.	.	.	T	2.570	-0.299857	0.05532	.	.	ENSG00000118873	ENST00000358951	T	0.29142	1.58	5.7	-9.62	0.00547	.	1.052410	0.07323	N	0.877924	T	0.08179	0.0204	N	0.03608	-0.345	0.09310	N	1	B;B	0.14012	0.009;0.001	B;B	0.11329	0.006;0.001	T	0.19844	-1.0293	10	0.27785	T	0.31	.	0.304	0.00277	0.3453:0.1734:0.1643:0.3169	.	72;72	Q9H2M9-2;Q9H2M9	.;RBGPR_HUMAN	A	72	ENSP00000351832:T72A	ENSP00000351832:T72A	T	-	1	0	RAB3GAP2	218453911	0.131000	0.22433	0.002000	0.10522	0.784000	0.44337	0.207000	0.17395	-1.298000	0.02348	-0.353000	0.07706	ACT	.		0.383	RAB3GAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090205.2	NM_012414	
RAG1	5896	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	11	36596385	36596385	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr11:36596385A>T	ENST00000299440.5	+	2	1643	c.1531A>T	c.(1531-1533)Aag>Tag	p.K511*		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	511					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GAATGCTGAGAAGGTACTTCT	0.502									Familial Hemophagocytic Lymphohistiocytosis																												p.K511X	Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	.											.	RAG1	230	0			c.A1531T						.						120.0	113.0	115.0					11																	36596385		2202	4298	6500	SO:0001587	stop_gained	5896	exon2	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	GCTGAGAAGGTAC	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"""RING-type (C3HC4) zinc fingers"""	9831	protein-coding gene	gene with protein product	"""recombination activating protein 1"", ""RING finger protein 74"", ""V(D)J recombination-activating protein 1"""	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.1531A>T	11.37:g.36596385A>T	ENSP00000299440:p.Lys511*	152.0	0.0		205.0	41.0	NM_000448	E9PPC4|Q8IY72|Q8NER2	Nonsense_Mutation	SNP	ENST00000299440.5	37	CCDS7902.1	.	.	.	.	.	.	.	.	.	.	A	34	5.298417	0.95574	.	.	ENSG00000166349	ENST00000534663;ENST00000299440	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.7965	0.78416	1.0:0.0:0.0:0.0	.	.	.	.	X	511	.	ENSP00000299440:K511X	K	+	1	0	RAG1	36552961	1.000000	0.71417	1.000000	0.80357	0.609000	0.37215	8.962000	0.93254	2.140000	0.66376	0.529000	0.55759	AAG	.		0.502	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448	
RAG2	5897	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	11	36614459	36614459	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr11:36614459G>T	ENST00000311485.3	-	2	1421	c.1260C>A	c.(1258-1260)tgC>tgA	p.C420*	C11orf74_ENST00000446510.2_5'Flank|C11orf74_ENST00000334307.5_5'Flank|C11orf74_ENST00000534635.1_5'Flank|RAG2_ENST00000528428.1_5'Flank|C11orf74_ENST00000347206.4_5'Flank	NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN	recombination activating gene 2	420					B cell differentiation (GO:0030183)|chromatin modification (GO:0016568)|pre-B cell allelic exclusion (GO:0002331)|T cell differentiation in thymus (GO:0033077)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				CACAAGTAGGGCAGCATGTAA	0.443									Familial Hemophagocytic Lymphohistiocytosis																												p.C420X		.											.	RAG2	95	0			c.C1260A						.						147.0	133.0	138.0					11																	36614459		2202	4298	6500	SO:0001587	stop_gained	5897	exon3	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	AGTAGGGCAGCAT	AF080577	CCDS7903.1	11p13	2014-09-17				ENSG00000175097			9832	protein-coding gene	gene with protein product		179616				1283330	Standard	NM_000536		Approved		uc001mwv.4	P55895		ENST00000311485.3:c.1260C>A	11.37:g.36614459G>T	ENSP00000308620:p.Cys420*	113.0	0.0		104.0	14.0	NM_001243785	A8K9E9|Q8TBL4	Nonsense_Mutation	SNP	ENST00000311485.3	37	CCDS7903.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.576484	0.86645	.	.	ENSG00000175097	ENST00000311485	.	.	.	5.23	0.144	0.14824	.	0.048134	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.072	8.5692	0.33558	0.6253:0.0:0.3747:0.0	.	.	.	.	X	420	.	ENSP00000308620:C420X	C	-	3	2	RAG2	36571035	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	0.778000	0.26732	0.053000	0.16036	0.650000	0.86243	TGC	.		0.443	RAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389536.1	NM_000536	
RAI2	10742	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	17818831	17818831	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chrX:17818831A>G	ENST00000545871.1	-	3	1760	c.1300T>C	c.(1300-1302)Tcc>Ccc	p.S434P	RAI2_ENST00000360011.1_Missense_Mutation_p.S434P|RAI2_ENST00000331511.1_Missense_Mutation_p.S434P|RAI2_ENST00000415486.3_Missense_Mutation_p.S384P|RAI2_ENST00000451717.1_Missense_Mutation_p.S434P	NM_001172739.1|NM_001172743.1	NP_001166210|NP_001166214	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	434					embryo development (GO:0009790)					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					GCCGCCTGGGACTCGCCCACC	0.542																																					p.S434P		.											.	RAI2	131	0			c.T1300C						.						120.0	118.0	119.0					X																	17818831		2203	4300	6503	SO:0001583	missense	10742	exon3			CCTGGGACTCGCC	Z93242	CCDS14183.1, CCDS55374.1	Xp22	2008-02-05			ENSG00000131831	ENSG00000131831			9835	protein-coding gene	gene with protein product		300217				10049581, 10394933	Standard	NR_033348		Approved		uc010nfa.3	Q9Y5P3	OTTHUMG00000021209	ENST00000545871.1:c.1300T>C	X.37:g.17818831A>G	ENSP00000444210:p.Ser434Pro	58.0	0.0		58.0	12.0	NM_001172739	B1B1K2|B4DQM9|E7EMN4|Q8N6X7	Missense_Mutation	SNP	ENST00000545871.1	37	CCDS14183.1	.	.	.	.	.	.	.	.	.	.	A	11.27	1.590116	0.28357	.	.	ENSG00000131831	ENST00000331511;ENST00000360011;ENST00000545871;ENST00000451717;ENST00000415486	T;T;T;T;T	0.50001	0.79;0.79;0.79;0.79;0.76	5.12	5.12	0.69794	.	0.149607	0.46442	D	0.000300	T	0.55449	0.1921	L	0.36672	1.1	0.46113	D	0.998877	D;D	0.67145	0.996;0.969	P;P	0.61070	0.883;0.824	T	0.59778	-0.7390	10	0.87932	D	0	-22.0114	14.0845	0.64947	1.0:0.0:0.0:0.0	.	384;434	E7EMN4;Q9Y5P3	.;RAI2_HUMAN	P	434;434;434;434;384	ENSP00000333456:S434P;ENSP00000353106:S434P;ENSP00000444210:S434P;ENSP00000401323:S434P;ENSP00000392578:S384P	ENSP00000333456:S434P	S	-	1	0	RAI2	17728752	1.000000	0.71417	0.990000	0.47175	0.149000	0.21700	4.641000	0.61375	1.901000	0.55032	0.486000	0.48141	TCC	.		0.542	RAI2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055937.1	NM_021785	
RBM14	10432	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	66392861	66392861	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr11:66392861G>A	ENST00000310137.4	+	2	1653	c.1514G>A	c.(1513-1515)gGg>gAg	p.G505E	RBM14-RBM4_ENST00000500635.2_Intron|RBM14_ENST00000409738.4_Intron|RBM14-RBM4_ENST00000412278.2_Intron|RBM4_ENST00000514361.3_Intron|RBM14-RBM4_ENST00000511114.1_Intron|RBM14_ENST00000393979.3_Intron|RBM4_ENST00000503028.2_Intron	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	505	Ala-rich.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|glucocorticoid receptor signaling pathway (GO:0042921)|histone deacetylation (GO:0016575)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to hormone (GO:0009725)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)		RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						GCAGCCTACGGGGCCCAACCT	0.627																																					p.G505E		.											RBM14,brain,glioma,-1	RBM14	92	0			c.G1514A						.						45.0	44.0	44.0					11																	66392861		2200	4295	6495	SO:0001583	missense	10432	exon2			CCTACGGGGCCCA	AF080561	CCDS8147.1, CCDS55772.1, CCDS55773.1	11q13.2	2013-02-12			ENSG00000239306	ENSG00000239306		"""RNA binding motif (RRM) containing"""	14219	protein-coding gene	gene with protein product	"""coactivator activator"", ""SYT interacting protein"""	612409				9285794	Standard	NM_006328		Approved	SIP, SYTIP1, COAA, DKFZp779J0927	uc001oit.3	Q96PK6	OTTHUMG00000140380	ENST00000310137.4:c.1514G>A	11.37:g.66392861G>A	ENSP00000311747:p.Gly505Glu	59.0	0.0		69.0	11.0	NM_006328	B0LM41|B3KMN4|D6RGD8|O75932|Q2PYN1|Q53GV1|Q68DQ9|Q96PK5	Missense_Mutation	SNP	ENST00000310137.4	37	CCDS8147.1	.	.	.	.	.	.	.	.	.	.	G	13.46	2.244440	0.39697	.	.	ENSG00000239306	ENST00000310137	D	0.84370	-1.84	5.75	5.75	0.90469	.	0.173489	0.49916	D	0.000127	D	0.86847	0.6031	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.88458	0.3053	10	0.87932	D	0	-3.9247	15.4418	0.75190	0.0:0.0:1.0:0.0	.	505	Q96PK6	RBM14_HUMAN	E	505	ENSP00000311747:G505E	ENSP00000311747:G505E	G	+	2	0	RBM14	66149437	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	2.738000	0.47401	2.720000	0.93068	0.655000	0.94253	GGG	.		0.627	RBM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277128.1	NM_006328	
RBM19	9904	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	114296692	114296692	+	Silent	SNP	C	C	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr12:114296692C>T	ENST00000545145.2	-	22	2646	c.2568G>A	c.(2566-2568)ggG>ggA	p.G856G	RBM19_ENST00000261741.5_Silent_p.G856G|RBM19_ENST00000392561.3_Silent_p.G856G	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	856	RRM 6. {ECO:0000255|PROSITE- ProRule:PRU00176}.				multicellular organismal development (GO:0007275)|positive regulation of embryonic development (GO:0040019)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					TCTTCAACTCCCCAAAGGTGC	0.527																																					p.G856G		.											.	RBM19	95	0			c.G2568A						.						86.0	83.0	84.0					12																	114296692		2203	4300	6503	SO:0001819	synonymous_variant	9904	exon22			CAACTCCCCAAAG	AL117547	CCDS9172.1	12q24.21	2013-02-12				ENSG00000122965		"""RNA binding motif (RRM) containing"""	29098	protein-coding gene	gene with protein product						9734811, 11230166	Standard	NM_016196		Approved	DKFZp586F1023, KIAA0682	uc009zwi.2	Q9Y4C8	OTTHUMG00000169646	ENST00000545145.2:c.2568G>A	12.37:g.114296692C>T		99.0	0.0		88.0	31.0	NM_001146699	A8K5X9|Q9BPY6|Q9UFN5	Silent	SNP	ENST00000545145.2	37	CCDS9172.1																																																																																			.		0.527	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405251.1	NM_016196	
RBMX	27316	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	135957309	135957309	+	Silent	SNP	A	A	G			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chrX:135957309A>G	ENST00000320676.7	-	8	955	c.801T>C	c.(799-801)ggT>ggC	p.G267G	RBMX_ENST00000562646.1_Silent_p.G267G|RBMX_ENST00000570135.1_Silent_p.G132G|RBMX_ENST00000431446.3_Missense_Mutation_p.V159A|RBMX_ENST00000496459.2_5'Flank|RBMX_ENST00000565438.1_Silent_p.G139G	NM_002139.3	NP_002130.2	P38159	RBMX_HUMAN	RNA binding motif protein, X-linked	267					cellular response to interleukin-1 (GO:0071347)|gene expression (GO:0010467)|membrane protein ectodomain proteolysis (GO:0006509)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|osteoblast differentiation (GO:0001649)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homooligomerization (GO:0051260)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|supraspliceosomal complex (GO:0044530)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					CACGATCACGACCATATCCAT	0.388																																					p.V159A		.											.	RBMX	131	0			c.T476C						.						169.0	162.0	164.0					X																	135957309		2203	4300	6503	SO:0001819	synonymous_variant	27316	exon6			ATCACGACCATAT		CCDS14661.1, CCDS55510.1	Xq26	2013-05-23	2003-09-12		ENSG00000147274	ENSG00000147274		"""RNA binding motif (RRM) containing"""	9910	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein G"""	300199	"""RNA binding motif protein, X chromosome"""			10391206, 10391207	Standard	NM_002139		Approved	RNMX, hnRNP-G, HNRNPG	uc004fae.2	P38159	OTTHUMG00000022517	ENST00000320676.7:c.801T>C	X.37:g.135957309A>G		183.0	0.0		141.0	23.0	NM_001164803	B4E3U4|D3DWH0|E9PG86|Q5JQ67|Q8N8Y7|Q969R3	Missense_Mutation	SNP	ENST00000320676.7	37	CCDS14661.1	.	.	.	.	.	.	.	.	.	.	.	9.651	1.141524	0.21205	.	.	ENSG00000147274	ENST00000431446	T	0.07444	3.19	5.61	5.61	0.85477	.	.	.	.	.	T	0.07279	0.0184	.	.	.	0.80722	D	1	B	0.22276	0.067	B	0.17098	0.017	T	0.19549	-1.0302	8	0.87932	D	0	.	5.5363	0.17013	0.7132:0.1587:0.1281:0.0	.	159	B4E3U4	.	A	159	ENSP00000411989:V159A	ENSP00000411989:V159A	V	-	2	0	RBMX	135784975	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.576000	0.46033	1.989000	0.58080	0.486000	0.48141	GTC	.		0.388	RBMX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058507.1	NM_002139	
RFX6	222546	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	6	117248312	117248312	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr6:117248312C>T	ENST00000332958.2	+	17	2024	c.2008C>T	c.(2008-2010)Cca>Tca	p.P670S		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	670					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						AAGTGTGGGCCCAGTACTGTC	0.527																																					p.P670S		.											.	RFX6	93	0			c.C2008T						.						142.0	133.0	136.0					6																	117248312		2203	4300	6503	SO:0001583	missense	222546	exon17			GTGGGCCCAGTAC	BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"""regulatory factor X domain containing 1"""	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.2008C>T	6.37:g.117248312C>T	ENSP00000332208:p.Pro670Ser	146.0	0.0		195.0	15.0	NM_173560	Q5T6B3	Missense_Mutation	SNP	ENST00000332958.2	37	CCDS5113.1	.	.	.	.	.	.	.	.	.	.	C	10.38	1.334435	0.24253	.	.	ENSG00000185002	ENST00000332958	T	0.55760	0.5	5.68	1.69	0.24217	.	0.558936	0.20589	N	0.089387	T	0.11239	0.0274	N	0.12182	0.205	0.09310	N	0.999995	B	0.09022	0.002	B	0.08055	0.003	T	0.27331	-1.0077	10	0.35671	T	0.21	-1.9504	4.6315	0.12504	0.1296:0.6161:0.1186:0.1356	.	670	Q8HWS3	RFX6_HUMAN	S	670	ENSP00000332208:P670S	ENSP00000332208:P670S	P	+	1	0	RFX6	117355005	0.291000	0.24352	0.020000	0.16555	0.957000	0.61999	1.187000	0.32090	0.018000	0.15052	0.655000	0.94253	CCA	.		0.527	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560	
RFX7	64864	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	56394441	56394441	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr15:56394441T>C	ENST00000559447.2	-	6	509	c.238A>G	c.(238-240)Agt>Ggt	p.S80G	RFX7_ENST00000317318.6_Missense_Mutation_p.S177G|RFX7_ENST00000423270.1_Missense_Mutation_p.S177G|RFX7_ENST00000422057.1_Missense_Mutation_p.S80G			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	80					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CTTAGTCCACTGTAGCAATAT	0.313																																					p.S177G		.											.	RFX7	90	0			c.A529G						.						61.0	59.0	60.0					15																	56394441		1787	4060	5847	SO:0001583	missense	64864	exon6			GTCCACTGTAGCA			15q21.3	2008-08-04	2008-08-04	2008-08-04		ENSG00000181827			25777	protein-coding gene	gene with protein product		612660	"""regulatory factor X domain containing 2"""	RFXDC2			Standard	NM_022841		Approved	FLJ12994	uc010bfn.3	Q2KHR2		ENST00000559447.2:c.238A>G	15.37:g.56394441T>C	ENSP00000453281:p.Ser80Gly	54.0	0.0		47.0	10.0	NM_022841	Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Missense_Mutation	SNP	ENST00000559447.2	37		.	.	.	.	.	.	.	.	.	.	T	17.47	3.397234	0.62177	.	.	ENSG00000181827	ENST00000422057;ENST00000317318;ENST00000423270	D;D;D	0.82803	-1.65;-1.65;-1.65	5.89	5.89	0.94794	Winged helix-turn-helix transcription repressor DNA-binding (1);	1.215880	0.05610	N	0.578026	T	0.81029	0.4738	L	0.39020	1.185	0.58432	D	0.999999	B	0.22683	0.073	B	0.20184	0.028	T	0.59434	-0.7455	10	0.54805	T	0.06	0.236	15.4882	0.75584	0.0:0.0:0.0:1.0	.	80	Q2KHR2	RFX7_HUMAN	G	80;177;177	ENSP00000387504:S80G;ENSP00000313299:S177G;ENSP00000397644:S177G	ENSP00000313299:S177G	S	-	1	0	RFX7	54181733	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.040000	0.89188	2.250000	0.74265	0.477000	0.44152	AGT	.		0.313	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	protein_coding	OTTHUMT00000418841.3	NM_022841	
RGPD4	285190	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	2	108489237	108489237	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr2:108489237T>A	ENST00000408999.3	+	20	4854	c.4777T>A	c.(4777-4779)Tct>Act	p.S1593T	RGPD4_ENST00000354986.4_Missense_Mutation_p.S1593T	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1593					protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						CCAGAGTGGATCTGAAAGCAA	0.383																																					p.S1593T		.											.	RGPD4	2	0			c.T4777A						.						40.0	34.0	35.0					2																	108489237		691	1591	2282	SO:0001583	missense	285190	exon20			AGTGGATCTGAAA	BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"""Tetratricopeptide (TTC) repeat domain containing"""	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.4777T>A	2.37:g.108489237T>A	ENSP00000386810:p.Ser1593Thr	152.0	0.0		173.0	26.0	NM_182588	B9A029	Missense_Mutation	SNP	ENST00000408999.3	37	CCDS46381.1	.	.	.	.	.	.	.	.	.	.	-	10.18	1.279615	0.23307	.	.	ENSG00000196862	ENST00000354986;ENST00000408999;ENST00000439322	T;T	0.38887	1.11;1.11	2.33	-2.43	0.06522	.	.	.	.	.	T	0.22551	0.0544	L	0.35414	1.06	0.21416	N	0.999698	B	0.10296	0.003	B	0.06405	0.002	T	0.25537	-1.0129	9	0.15499	T	0.54	-8.3036	2.1596	0.03821	0.2529:0.3485:0.0:0.3986	.	1593	Q7Z3J3	RGPD4_HUMAN	T	1593;1593;960	ENSP00000347081:S1593T;ENSP00000386810:S1593T	ENSP00000347081:S1593T	S	+	1	0	RGPD4	107855669	0.009000	0.17119	0.973000	0.42090	0.432000	0.31715	-0.194000	0.09559	-0.198000	0.10333	0.136000	0.15936	TCT	.		0.383	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330096.2	XM_496581	
RGSL1	353299	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	182442708	182442708	+	Splice_Site	SNP	A	A	G			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr1:182442708A>G	ENST00000294854.8	+	6	483		c.e6-1		RGSL1_ENST00000542961.1_Splice_Site	NM_001137669.1	NP_001131141.1	A5PLK6	RGSL_HUMAN	regulator of G-protein signaling like 1						termination of G-protein coupled receptor signaling pathway (GO:0038032)	integral component of membrane (GO:0016021)				central_nervous_system(2)|skin(4)	6						TATTATTTCCAGAGTCCCTCC	0.428																																					.	Ovarian(71;11 616 11292 12944 18021 32289 33994 41738 46526)	.											.	RGSL1	226	0			c.464-2A>G						.						28.0	22.0	24.0					1																	182442708		692	1591	2283	SO:0001630	splice_region_variant	353299	exon6			ATTTCCAGAGTCC	AF510428	CCDS58049.1	1q25	2013-04-02	2007-08-14		ENSG00000121446	ENSG00000121446			18636	protein-coding gene	gene with protein product		611012	"""regulator of G-protein signalling like 1"", ""regulator of G-protein signaling like 2"", ""regulator of G-protein signalling like 2"""	RGSL2		12801632	Standard	NM_001137669		Approved		uc009wxw.3	A5PLK6	OTTHUMG00000035217	ENST00000294854.8:c.464-1A>G	1.37:g.182442708A>G		61.0	0.0		132.0	19.0	NM_001137669	A2A2Z0|A6PVM2|A6PVM3|Q0VAJ4|Q0VAJ5|Q6ZRL0|Q86UV0|Q9H084	Splice_Site	SNP	ENST00000294854.8	37	CCDS58049.1																																																																																			.		0.428	RGSL1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320710.3	NM_181572	Intron
RGS8	85397	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	1	182617399	182617399	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr1:182617399A>G	ENST00000483095.2	-	6	490	c.233T>C	c.(232-234)tTc>tCc	p.F78S	RGS8_ENST00000258302.4_Missense_Mutation_p.F96S|RGS8_ENST00000367557.4_Missense_Mutation_p.F78S|RGS8_ENST00000367556.1_Missense_Mutation_p.F78S			P57771	RGS8_HUMAN	regulator of G-protein signaling 8	78	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			haematopoietic_and_lymphoid_tissue(1)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	5						CTCCTCACTGAACTCCGTCTT	0.488																																					p.F96S	Ovarian(189;1262 3804 41973)	.											.	RGS8	227	0			c.T287C						.						194.0	194.0	194.0					1																	182617399		2203	4300	6503	SO:0001583	missense	85397	exon5			TCACTGAACTCCG	AF297015	CCDS1349.1, CCDS41443.1	1q25	2008-07-18	2007-08-14		ENSG00000135824	ENSG00000135824		"""Regulators of G-protein signaling"""	16810	protein-coding gene	gene with protein product		607189	"""regulator of G-protein signalling 8"""			11318611	Standard	NM_001102450		Approved	MGC119067, MGC119068, MGC119069	uc001gpm.1	P57771	OTTHUMG00000035219	ENST00000483095.2:c.233T>C	1.37:g.182617399A>G	ENSP00000426289:p.Phe78Ser	121.0	0.0		223.0	20.0	NM_033345	B4DGL9|Q3SYD2	Missense_Mutation	SNP	ENST00000483095.2	37	CCDS41443.1	.	.	.	.	.	.	.	.	.	.	A	28.2	4.903908	0.92035	.	.	ENSG00000135824	ENST00000483095;ENST00000258302;ENST00000367557;ENST00000367556	T;T;T;T	0.33438	1.41;1.41;1.41;1.41	5.55	5.55	0.83447	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);Regulator of G-protein signaling, domain 1 (1);	0.000000	0.85682	D	0.000000	T	0.66218	0.2767	M	0.93939	3.475	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.76418	-0.2966	10	0.87932	D	0	.	15.3412	0.74300	1.0:0.0:0.0:0.0	.	78;96	P57771;P57771-2	RGS8_HUMAN;.	S	78;96;78;78	ENSP00000426289:F78S;ENSP00000258302:F96S;ENSP00000356528:F78S;ENSP00000356527:F78S	ENSP00000258302:F96S	F	-	2	0	RGS8	180884022	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.020000	0.93667	2.101000	0.63845	0.460000	0.39030	TTC	.		0.488	RGS8-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358979.1	NM_033345	
RGS7	6000	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	1	240966242	240966242	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr1:240966242A>T	ENST00000407727.1	-	15	1320	c.1321T>A	c.(1321-1323)Tcc>Acc	p.S441T	RGS7_ENST00000331110.7_Missense_Mutation_p.S415T|RGS7_ENST00000366565.1_Missense_Mutation_p.S441T|RGS7_ENST00000348120.2_Missense_Mutation_p.S388T|RGS7_ENST00000401882.1_Missense_Mutation_p.S388T|RGS7_ENST00000366562.4_Missense_Mutation_p.S441T|RGS7_ENST00000446183.2_Missense_Mutation_p.S357T|RGS7_ENST00000366564.1_Missense_Mutation_p.S441T|RGS7_ENST00000366563.1_Missense_Mutation_p.S441T			P49802	RGS7_HUMAN	regulator of G-protein signaling 7	441	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TAGGCACTGGATCTTATAAAA	0.348																																					p.S441T		.											.	RGS7	232	0			c.T1321A						.						143.0	152.0	149.0					1																	240966242		2203	4300	6503	SO:0001583	missense	6000	exon16			CACTGGATCTTAT	BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901		"""Regulators of G-protein signaling"""	10003	protein-coding gene	gene with protein product		602517	"""regulator of G-protein signalling 7"""			8548815	Standard	XM_005273218		Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000407727.1:c.1321T>A	1.37:g.240966242A>T	ENSP00000384428:p.Ser441Thr	76.0	0.0		136.0	10.0	NM_002924	Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Missense_Mutation	SNP	ENST00000407727.1	37		.	.	.	.	.	.	.	.	.	.	A	29.9	5.042600	0.93685	.	.	ENSG00000182901	ENST00000331110;ENST00000366565;ENST00000366564;ENST00000366563;ENST00000440928;ENST00000348120;ENST00000446183;ENST00000366562;ENST00000407727;ENST00000401882	T;T;T;T;T;T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81	6.04	6.04	0.98038	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);Regulator of G-protein signaling, domain 1 (1);	0.103098	0.64402	D	0.000001	T	0.72645	0.3486	M	0.86268	2.805	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.999;0.998;1.0;0.998;1.0;0.999	D;D;D;D;D;D;D	0.97110	1.0;0.998;0.995;1.0;0.997;1.0;0.998	T	0.77370	-0.2613	10	0.87932	D	0	.	15.7697	0.78157	1.0:0.0:0.0:0.0	.	357;415;388;441;441;441;441	B7Z223;B7Z257;P49802-4;P49802-2;P49802-5;P49802-3;P49802	.;.;.;.;.;.;RGS7_HUMAN	T	415;441;441;441;272;388;357;441;441;388	ENSP00000331485:S415T;ENSP00000355523:S441T;ENSP00000355522:S441T;ENSP00000355521:S441T;ENSP00000404399:S272T;ENSP00000341242:S388T;ENSP00000390138:S357T;ENSP00000355520:S441T;ENSP00000384428:S441T;ENSP00000385508:S388T	ENSP00000331485:S415T	S	-	1	0	RGS7	239032865	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.317000	0.78254	0.460000	0.39030	TCC	.		0.348	RGS7-204	KNOWN	basic	protein_coding	protein_coding		NM_002924	
RIBC2	26150	broad.mit.edu;bcgsc.ca;mdanderson.org	37	22	45810271	45810271	+	5'UTR	SNP	A	A	G			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	A	A	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr22:45810271A>G	ENST00000342894.3	+	0	394				SMC1B_ENST00000357450.4_5'Flank|SMC1B_ENST00000404354.3_5'Flank|RIBC2_ENST00000538017.1_Silent_p.R61R			Q9H4K1	RIBC2_HUMAN	RIB43A domain with coiled-coils 2							nucleus (GO:0005634)				NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|skin(2)|urinary_tract(1)	10		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		AAAAAGCTAGACATGAAACTT	0.448																																					.		.											.	RIBC2	90	0			.						.						131.0	124.0	126.0					22																	45810271		692	1591	2283	SO:0001623	5_prime_UTR_variant	26150	.			AGCTAGACATGAA	AK098586		22q13.3	2004-08-18	2004-08-18	2004-08-18	ENSG00000128408	ENSG00000128408			13241	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 11"""	C22orf11		12477932	Standard	NM_015653		Approved	DKFZp566F0546, FLJ25720	uc011aqs.3	Q9H4K1	OTTHUMG00000151332	ENST00000342894.3:c.-21A>G	22.37:g.45810271A>G		66.0	0.0		94.0	19.0	.	Q6ICD0|Q9Y413	Silent	SNP	ENST00000342894.3	37																																																																																				.		0.448	RIBC2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000322250.1	NM_015653	
RNF146	81847	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	127607830	127607830	+	Silent	SNP	C	C	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr6:127607830C>T	ENST00000368314.1	+	3	496	c.72C>T	c.(70-72)tcC>tcT	p.S24S	RNF146_ENST00000356799.2_3'UTR|RNF146_ENST00000610153.1_Silent_p.S24S|RNF146_ENST00000309649.3_Silent_p.S23S|RNF146_ENST00000489534.1_3'UTR|RNF146_ENST00000608991.1_Silent_p.S23S|RNF146_ENST00000480444.1_3'UTR|RNF146_ENST00000477776.1_3'UTR|RNF146_ENST00000476956.1_3'UTR	NM_001242850.1|NM_001242851.1	NP_001229779.1|NP_001229780.1	Q9NTX7	RN146_HUMAN	ring finger protein 146	24					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly-ADP-D-ribose binding (GO:0072572)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2)		CGAACGAGTCCTGTTCTAATA	0.403																																					p.S24S		.											.	RNF146	226	0			c.C72T						.						189.0	153.0	165.0					6																	127607830		2203	4300	6503	SO:0001819	synonymous_variant	81847	exon3			CGAGTCCTGTTCT	AK027558	CCDS5136.1, CCDS56449.1	6q22.1-q22.33	2008-02-05			ENSG00000118518	ENSG00000118518		"""RING-type (C3HC4) zinc fingers"""	21336	protein-coding gene	gene with protein product		612137					Standard	NM_001242844		Approved	DKFZp434O1427, dactylidin, dJ351K20.1	uc021zes.1	Q9NTX7	OTTHUMG00000015522	ENST00000368314.1:c.72C>T	6.37:g.127607830C>T		207.0	0.0		326.0	34.0	NM_001242850	E1P572|Q6FIB2|Q7L8H4|Q96K03|Q96T06|Q9NTX6	Silent	SNP	ENST00000368314.1	37	CCDS56449.1																																																																																			.		0.403	RNF146-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042112.1	NM_030963	
RNF17	56163	broad.mit.edu;mdanderson.org	37	13	25448375	25448375	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr13:25448375T>A	ENST00000255324.5	+	33	4623	c.4571T>A	c.(4570-4572)cTg>cAg	p.L1524Q	RNF17_ENST00000339524.3_Missense_Mutation_p.L534Q|RNF17_ENST00000381921.1_Missense_Mutation_p.L1482Q	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1524	Tudor 4. {ECO:0000255|PROSITE- ProRule:PRU00211}.				multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		ACTGCAAAGCTGACATTAAAC	0.284																																					p.L1524Q		.											.	RNF17	228	0			c.T4571A						.						81.0	82.0	82.0					13																	25448375		2202	4300	6502	SO:0001583	missense	56163	exon33			CAAAGCTGACATT	AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"""RING-type (C3HC4) zinc fingers"", ""Tudor domain containing"""	10060	protein-coding gene	gene with protein product	"""spermatogenesis associated 23"""	605793	"""tudor domain containing 4"""	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.4571T>A	13.37:g.25448375T>A	ENSP00000255324:p.Leu1524Gln	37.0	0.0		26.0	4.0	NM_031277	Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	ENST00000255324.5	37	CCDS9308.2	.	.	.	.	.	.	.	.	.	.	T	19.50	3.838475	0.71373	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000418120;ENST00000339524	T;T;T;T	0.12039	2.72;2.72;2.72;2.72	5.27	5.27	0.74061	Tudor subgroup (1);Maternal tudor protein (1);Tudor domain (1);	0.180825	0.26514	N	0.023947	T	0.41259	0.1151	M	0.85373	2.75	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.91635	0.985;0.995;0.999;0.995	T	0.43556	-0.9384	10	0.87932	D	0	-5.5633	12.7067	0.57063	0.0:0.0:0.0:1.0	.	1520;534;1518;1524	B7Z7S1;Q5T6R1;Q9BXT8-5;Q9BXT8	.;.;.;RNF17_HUMAN	Q	1524;1482;848;534	ENSP00000255324:L1524Q;ENSP00000371346:L1482Q;ENSP00000388892:L848Q;ENSP00000344776:L534Q	ENSP00000255324:L1524Q	L	+	2	0	RNF17	24346375	1.000000	0.71417	0.987000	0.45799	0.939000	0.58152	4.243000	0.58721	1.991000	0.58162	0.397000	0.26171	CTG	.		0.284	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994	
RP1L1	94137	hgsc.bcm.edu;bcgsc.ca	37	8	10465934	10465934	+	Missense_Mutation	SNP	T	T	C	rs202056828		TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr8:10465934T>C	ENST00000382483.3	-	4	5897	c.5674A>G	c.(5674-5676)Acc>Gcc	p.T1892A		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1972					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GCCTCTGGGGTCTCTACATCT	0.607																																					p.T1892A		.											.	RP1L1	139	0			c.A5674G						.																																			SO:0001583	missense	94137	exon4			CTGGGGTCTCTAC	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.5674A>G	8.37:g.10465934T>C	ENSP00000371923:p.Thr1892Ala	87.0	0.0		56.0	11.0	NM_178857	Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	c	0.006	-2.056342	0.00390	.	.	ENSG00000183638	ENST00000382483	T	0.07114	3.22	1.4	-2.8	0.05823	.	.	.	.	.	T	0.01976	0.0062	N	0.01874	-0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33085	-0.9882	9	0.07644	T	0.81	.	0.9492	0.01372	0.1582:0.2711:0.3144:0.2564	.	1892	A6NKC6	.	A	1892	ENSP00000371923:T1892A	ENSP00000371923:T1892A	T	-	1	0	RP1L1	10503344	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.473000	0.00988	-2.494000	0.00514	-3.032000	0.00072	ACC	.		0.607	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1		
RPAP2	79871	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	1	92789745	92789745	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr1:92789745G>A	ENST00000610020.1	+	8	1377	c.1268G>A	c.(1267-1269)tGg>tAg	p.W423*		NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2	423					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|snRNA transcription (GO:0009301)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nucleolus (GO:0005730)|nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		TTCCCTGCCTGGAGGGAATCT	0.418																																					p.W423X		.											.	RPAP2	91	0			c.G1268A						.						73.0	76.0	75.0					1																	92789745		2203	4300	6503	SO:0001587	stop_gained	79871	exon8			CTGCCTGGAGGGA	AK023212	CCDS740.1	1p22.1	2014-01-28	2007-07-26	2007-07-26	ENSG00000122484	ENSG00000122484			25791	protein-coding gene	gene with protein product		611476	"""chromosome 1 open reading frame 82"""	C1orf82		17643375	Standard	NM_024813		Approved	FLJ13150	uc001dot.2	Q8IXW5	OTTHUMG00000010288	ENST00000610020.1:c.1268G>A	1.37:g.92789745G>A	ENSP00000476948:p.Trp423*	110.0	0.0		80.0	21.0	NM_024813	C9JKB5|Q49AS7|Q9H8Y2	Nonsense_Mutation	SNP	ENST00000610020.1	37	CCDS740.1	.	.	.	.	.	.	.	.	.	.	G	16.85	3.236952	0.58886	.	.	ENSG00000122484	ENST00000370343;ENST00000394482	.	.	.	5.63	-3.36	0.04913	.	1.138040	0.06667	N	0.765441	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	1.4894	2.7472	0.05271	0.278:0.064:0.338:0.32	.	.	.	.	X	423	.	ENSP00000359368:W423X	W	+	2	0	RPAP2	92562333	0.000000	0.05858	0.000000	0.03702	0.985000	0.73830	-0.492000	0.06467	-0.118000	0.11851	0.655000	0.94253	TGG	.		0.418	RPAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028368.2	NM_024813	
RPS9	6203	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	19	54705416	54705416	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr19:54705416delC	ENST00000302907.4	+	3	331	c.159delC	c.(157-159)atcfs	p.I53fs	RPS9_ENST00000391751.3_Frame_Shift_Del_p.I53fs|AC012314.20_ENST00000426213.1_RNA|RPS9_ENST00000441429.1_Frame_Shift_Del_p.I53fs|RPS9_ENST00000402367.1_Frame_Shift_Del_p.I53fs|RPS9_ENST00000391752.1_Frame_Shift_Del_p.I53fs|RPS9_ENST00000391753.2_Frame_Shift_Del_p.I53fs	NM_001013.3	NP_001004.2	P46781	RS9_HUMAN	ribosomal protein S9	53					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)|positive regulation of cell proliferation (GO:0008284)|regulation of translation (GO:0006417)|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)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)|translation regulator activity (GO:0045182)			NS(1)|breast(1)|kidney(11)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	20	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.18)		TGGCCAAGATCCGCAAGGCCG	0.607																																					p.I53fs		.											.	RPS9	153	0			c.159delC						.						38.0	35.0	36.0					19																	54705416		2203	4300	6503	SO:0001589	frameshift_variant	6203	exon3			CAAGATCCGCAAG	U14971	CCDS12884.1	19q13.4	2011-04-05			ENSG00000170889	ENSG00000170889		"""S ribosomal proteins"""	10442	protein-coding gene	gene with protein product	"""40S ribosomal protein S9"""	603631				7772601, 9582194	Standard	XM_005259135		Approved	S9	uc002qdx.3	P46781	OTTHUMG00000066618	ENST00000302907.4:c.159delC	19.37:g.54705416delC	ENSP00000302896:p.Ile53fs	72.0	0.0		125.0	36.0	NM_001013	A9C4C1|Q4QRK7|Q9BVZ0	Frame_Shift_Del	DEL	ENST00000302907.4	37	CCDS12884.1																																																																																			.		0.607	RPS9-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142834.3	NM_001013	
RRBP1	6238	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	20	17616198	17616198	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr20:17616198C>A	ENST00000377813.1	-	7	2752	c.2449G>T	c.(2449-2451)Gag>Tag	p.E817*	RRBP1_ENST00000455029.2_Nonsense_Mutation_p.E158*|RRBP1_ENST00000377807.2_Nonsense_Mutation_p.E384*|RRBP1_ENST00000360807.4_Nonsense_Mutation_p.E384*|RRBP1_ENST00000246043.4_Nonsense_Mutation_p.E817*			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	817					osteoblast differentiation (GO:0001649)|protein transport (GO:0015031)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						TACTTGCTCTCCACCTGGCTC	0.647																																					p.E384X		.											.	RRBP1	92	0			c.G1150T						.						66.0	58.0	61.0					20																	17616198		2203	4300	6503	SO:0001587	stop_gained	6238	exon7			TGCTCTCCACCTG	AB037819	CCDS13128.1	20p12	2012-12-07	2012-12-07		ENSG00000125844	ENSG00000125844			10448	protein-coding gene	gene with protein product		601418	"""ribosome binding protein 1 (dog 180kD homolog)"", ""ribosome binding protein 1 homolog 180kDa (dog)"""			8812507	Standard	NM_001042576		Approved	ES/130, hES	uc002wpw.1	Q9P2E9	OTTHUMG00000031945	ENST00000377813.1:c.2449G>T	20.37:g.17616198C>A	ENSP00000367044:p.Glu817*	65.0	0.0		69.0	21.0	NM_004587	A2A2S6|A6NCN6|O75300|O75301|Q5W165|Q96SB2|Q9BWP1|Q9H476	Nonsense_Mutation	SNP	ENST00000377813.1	37		.	.	.	.	.	.	.	.	.	.	C	41	9.068143	0.99055	.	.	ENSG00000125844	ENST00000360807;ENST00000377813;ENST00000377807;ENST00000246043;ENST00000455029	.	.	.	5.69	5.69	0.88448	.	0.000000	0.37906	N	0.001889	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-44.1293	18.3963	0.90499	0.0:1.0:0.0:0.0	.	.	.	.	X	384;817;384;817;158	.	ENSP00000246043:E817X	E	-	1	0	RRBP1	17564198	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.798000	0.85924	2.700000	0.92200	0.561000	0.74099	GAG	.		0.647	RRBP1-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000078125.1	NM_001042576	
RSPH9	221421	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	6	43623341	43623341	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr6:43623341C>G	ENST00000372163.4	+	3	489	c.436C>G	c.(436-438)Cag>Gag	p.Q146E	RSPH9_ENST00000372165.4_Intron	NM_152732.4	NP_689945.2	Q9H1X1	RSPH9_HUMAN	radial spoke head 9 homolog (Chlamydomonas)	146					axoneme assembly (GO:0035082)|cilium movement (GO:0003341)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						TGTCATTGACCAGATTGACAA	0.607									Kartagener syndrome																												p.Q146E		.											.	RSPH9	92	0			c.C436G						.						133.0	132.0	132.0					6																	43623341		2203	4300	6503	SO:0001583	missense	221421	exon3	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	ATTGACCAGATTG	AK055407	CCDS4905.1, CCDS55005.1	6p21.1	2012-05-03	2009-02-17	2009-02-17	ENSG00000172426	ENSG00000172426			21057	protein-coding gene	gene with protein product		612648	"""mitochondrial ribosomal protein S18A-like 1"", ""chromosome 6 open reading frame 206"""	MRPS18AL1, C6orf206		19200523	Standard	NM_152732		Approved	FLJ30845, CILD12	uc003ovx.2	Q9H1X1	OTTHUMG00000014746	ENST00000372163.4:c.436C>G	6.37:g.43623341C>G	ENSP00000361236:p.Gln146Glu	69.0	0.0		114.0	9.0	NM_152732	A8K5T4|Q96NH9	Missense_Mutation	SNP	ENST00000372163.4	37	CCDS4905.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.69|14.69	2.610405|2.610405	0.46527|0.46527	.|.	.|.	ENSG00000172426|ENSG00000172426	ENST00000417236|ENST00000372163;ENST00000372154	.|T	.|0.39997	.|1.05	5.68|5.68	5.68|5.68	0.88126|0.88126	.|.	.|.	.|.	.|.	.|.	T|T	0.20941|0.20941	0.0504|0.0504	L|L	0.40543|0.40543	1.245|1.245	0.35723|0.35723	D|D	0.817357|0.817357	.|P	.|0.50369	.|0.934	.|P	.|0.45167	.|0.472	T|T	0.02813|0.02813	-1.1107|-1.1107	5|9	.|0.10111	.|T	.|0.7	.|.	12.2605|12.2605	0.54647|0.54647	0.1697:0.8303:0.0:0.0|0.1697:0.8303:0.0:0.0	.|.	.|146	.|Q9H1X1	.|RSPH9_HUMAN	R|E	70|146;114	.|ENSP00000361236:Q146E	.|ENSP00000361227:Q114E	P|Q	+|+	2|1	0|0	RSPH9|RSPH9	43731319|43731319	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	2.918000|2.918000	0.48829|0.48829	2.672000|2.672000	0.90937|0.90937	0.591000|0.591000	0.81541|0.81541	CCA|CAG	.		0.607	RSPH9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040690.1	NM_152732	
RTN1	6252	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	60074189	60074189	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr14:60074189C>T	ENST00000267484.5	-	4	2122	c.1787G>A	c.(1786-1788)cGg>cAg	p.R596Q	RTN1_ENST00000395090.1_Missense_Mutation_p.R13Q|RTN1_ENST00000342503.4_Missense_Mutation_p.R28Q|RTN1_ENST00000557422.1_5'UTR	NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	596	Reticulon. {ECO:0000255|PROSITE- ProRule:PRU00170}.				neuron differentiation (GO:0030182)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)				central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		CTTGATGTCCCGCCAATACAA	0.602																																					p.R596Q		.											.	RTN1	516	0			c.G1787A						.						31.0	31.0	31.0					14																	60074189		2203	4300	6503	SO:0001583	missense	6252	exon4			ATGTCCCGCCAAT	L10333	CCDS9740.1, CCDS9741.1	14q21-q22	2008-08-29			ENSG00000139970	ENSG00000139970			10467	protein-coding gene	gene with protein product		600865	"""neuroendocrine-specific protein"""	NSP		8275708	Standard	NM_206852		Approved		uc001xen.1	Q16799	OTTHUMG00000028947	ENST00000267484.5:c.1787G>A	14.37:g.60074189C>T	ENSP00000267484:p.Arg596Gln	190.0	0.0		134.0	23.0	NM_021136	Q16800|Q16801|Q5BKZ4|Q9BQ59	Missense_Mutation	SNP	ENST00000267484.5	37	CCDS9740.1	.	.	.	.	.	.	.	.	.	.	C	37	6.022003	0.97211	.	.	ENSG00000139970	ENST00000432103;ENST00000267484;ENST00000395090;ENST00000342503;ENST00000433623	T;T;T	0.54866	0.55;0.55;0.55	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	T	0.77890	0.4198	M	0.85542	2.76	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.995;0.998;0.995	T	0.79676	-0.1704	10	0.87932	D	0	.	20.4777	0.99188	0.0:1.0:0.0:0.0	.	13;596;28	A8MT72;Q16799;Q16799-3	.;RTN1_HUMAN;.	Q	176;596;13;28;522	ENSP00000267484:R596Q;ENSP00000378525:R13Q;ENSP00000340716:R28Q	ENSP00000267484:R596Q	R	-	2	0	RTN1	59143942	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.840000	0.97914	0.655000	0.94253	CGG	.		0.602	RTN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000072278.2		
RTL1	388015	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	101350875	101350875	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr14:101350875G>A	ENST00000534062.1	-	1	309	c.251C>T	c.(250-252)cCa>cTa	p.P84L	MIR433_ENST00000384837.1_RNA|MIR127_ENST00000384876.1_RNA|MIR432_ENST00000606207.1_RNA|MIR136_ENST00000385207.1_RNA	NM_001134888.2	NP_001128360.1	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	84					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)				breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						TTCCTTACGTGGGCCACTGGA	0.572																																					p.P84L		.											.	RTL1	46	0			c.C251T						.						82.0	72.0	75.0					14																	101350875		1568	3582	5150	SO:0001583	missense	388015	exon1			TTACGTGGGCCAC		CCDS53910.1	14q32.2	2012-04-18			ENSG00000254656	ENSG00000254656			14665	protein-coding gene	gene with protein product		611896				16155747, 15854907, 12796779	Standard	NM_001134888		Approved	PEG11, MART1, Mar1	uc010txj.1	A6NKG5	OTTHUMG00000167573	ENST00000534062.1:c.251C>T	14.37:g.101350875G>A	ENSP00000435342:p.Pro84Leu	119.0	0.0		103.0	16.0	NM_001134888	E9PKS8	Missense_Mutation	SNP	ENST00000534062.1	37	CCDS53910.1	.	.	.	.	.	.	.	.	.	.	G	15.23	2.770758	0.49680	.	.	ENSG00000254656	ENST00000534062	T	0.42131	0.98	3.54	2.63	0.31362	.	.	.	.	.	T	0.43100	0.1232	N	0.24115	0.695	0.33458	D	0.584537	D	0.69078	0.997	P	0.61328	0.887	T	0.55560	-0.8122	9	0.87932	D	0	.	8.2736	0.31860	0.0:0.0:0.7636:0.2364	.	84	E9PKS8	.	L	84	ENSP00000435342:P84L	ENSP00000435342:P84L	P	-	2	0	RTL1	100420628	0.994000	0.37717	0.984000	0.44739	0.957000	0.61999	2.134000	0.42102	1.038000	0.40049	0.561000	0.74099	CCA	.		0.572	RTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395127.1	NM_001134888	
RUFY4	285180	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	218947924	218947924	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr2:218947924G>A	ENST00000344321.7	+	11	1965	c.1447G>A	c.(1447-1449)Gga>Aga	p.G483R	RUFY4_ENST00000441828.2_3'UTR|RUFY4_ENST00000374155.3_Missense_Mutation_p.G503R	NM_198483.3	NP_940885.2	Q6ZNE9	RUFY4_HUMAN	RUN and FYVE domain containing 4	483							metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GGAGGAGCTTGGAGGGCAGCG	0.602																																					p.G483R		.											.	RUFY4	46	0			c.G1447A						.						94.0	99.0	97.0					2																	218947924		2108	4224	6332	SO:0001583	missense	285180	exon11			GAGCTTGGAGGGC	AK128393		2q35	2007-01-29			ENSG00000188282	ENSG00000188282		"""Zinc fingers, FYVE domain containing"""	24804	protein-coding gene	gene with protein product							Standard	NM_198483		Approved	FLJ46536	uc010fvl.2	Q6ZNE9	OTTHUMG00000155235	ENST00000344321.7:c.1447G>A	2.37:g.218947924G>A	ENSP00000345900:p.Gly483Arg	202.0	0.0		264.0	69.0	NM_198483	Q6ZR96	Missense_Mutation	SNP	ENST00000344321.7	37		.	.	.	.	.	.	.	.	.	.	G	11.12	1.543943	0.27563	.	.	ENSG00000188282	ENST00000344321;ENST00000374155	T;T	0.75367	-0.93;0.9	4.27	-0.116	0.13555	Zinc finger, FYVE/PHD-type (1);	0.995534	0.08141	N	0.991689	T	0.52240	0.1722	N	0.19112	0.55	0.09310	N	1	B	0.24618	0.107	B	0.19148	0.024	T	0.30297	-0.9983	10	0.18710	T	0.47	0.0021	3.2789	0.06908	0.3808:0.2105:0.4087:0.0	.	483	Q6ZNE9	RUFY4_HUMAN	R	483;503	ENSP00000345900:G483R;ENSP00000363270:G503R	ENSP00000345900:G483R	G	+	1	0	RUFY4	218656169	0.000000	0.05858	0.119000	0.21687	0.986000	0.74619	0.563000	0.23547	0.074000	0.16767	0.555000	0.69702	GGA	.		0.602	RUFY4-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_198483	
RYR2	6262	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	237713919	237713919	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr1:237713919G>A	ENST00000366574.2	+	27	3459	c.3142G>A	c.(3142-3144)Gac>Aac	p.D1048N	RYR2_ENST00000360064.6_Missense_Mutation_p.D1046N|RYR2_ENST00000542537.1_Missense_Mutation_p.D1032N	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1048	4 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATCCAACAAGGACAGCCTCCG	0.507																																					p.D1048N		.											.	RYR2	158	0			c.G3142A						.						111.0	107.0	108.0					1																	237713919		1927	4140	6067	SO:0001583	missense	6262	exon27			AACAAGGACAGCC	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.3142G>A	1.37:g.237713919G>A	ENSP00000355533:p.Asp1048Asn	180.0	0.0		358.0	50.0	NM_001035	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	35	5.415136	0.96092	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.91464	-2.85;-2.85;-2.85	5.14	5.14	0.70334	B30.2/SPRY domain (1);Ryanodine receptor Ryr (1);	0.000000	0.56097	U	0.000028	D	0.91153	0.7214	L	0.43554	1.36	0.80722	D	1	P	0.52692	0.955	P	0.51615	0.675	D	0.91388	0.5133	10	0.49607	T	0.09	.	18.6043	0.91261	0.0:0.0:1.0:0.0	.	1048	Q92736	RYR2_HUMAN	N	1048;1046;1032	ENSP00000355533:D1048N;ENSP00000353174:D1046N;ENSP00000443798:D1032N	ENSP00000353174:D1046N	D	+	1	0	RYR2	235780542	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.731000	0.98807	2.393000	0.81446	0.563000	0.77884	GAC	.		0.507	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
RYR2	6262	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	1	237982484	237982484	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr1:237982484T>C	ENST00000366574.2	+	101	14899	c.14582T>C	c.(14581-14583)aTa>aCa	p.I4861T	RYR2_ENST00000360064.6_Missense_Mutation_p.I4867T|RYR2_ENST00000542537.1_Missense_Mutation_p.I4845T	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4861					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTCTTGGCCATAATACAAGGT	0.393																																					p.I4861T		.											.	RYR2	158	0			c.T14582C						.						197.0	198.0	198.0					1																	237982484		1942	4132	6074	SO:0001583	missense	6262	exon101			TGGCCATAATACA	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.14582T>C	1.37:g.237982484T>C	ENSP00000355533:p.Ile4861Thr	122.0	0.0		206.0	12.0	NM_001035	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.407320	0.83230	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000536033	D;D;D	0.98437	-4.93;-4.93;-4.93	5.58	5.58	0.84498	Ion transport (1);	0.000000	0.64402	U	0.000011	D	0.98868	0.9617	M	0.81179	2.53	0.80722	D	1	P;D	0.62365	0.659;0.991	P;D	0.78314	0.477;0.991	D	0.99850	1.1070	10	0.87932	D	0	.	15.7638	0.78110	0.0:0.0:0.0:1.0	.	294;4861	F5H3C7;Q92736	.;RYR2_HUMAN	T	4861;4867;4845;294	ENSP00000355533:I4861T;ENSP00000353174:I4867T;ENSP00000443798:I4845T	ENSP00000353174:I4867T	I	+	2	0	RYR2	236049107	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.997000	0.88414	2.126000	0.65437	0.533000	0.62120	ATA	.		0.393	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
SASH1	23328	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	148841002	148841002	+	Silent	SNP	G	G	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr6:148841002G>A	ENST00000367467.3	+	10	1657	c.1182G>A	c.(1180-1182)aaG>aaA	p.K394K		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	394					positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		GGGAGATGAAGAAGGGTCTCG	0.567																																					p.K394K		.											.	SASH1	90	0			c.G1182A						.						13.0	15.0	15.0					6																	148841002		2199	4295	6494	SO:0001819	synonymous_variant	23328	exon10			GATGAAGAAGGGT	AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.1182G>A	6.37:g.148841002G>A		19.0	0.0		22.0	7.0	NM_015278	Q5TGN5|Q8TAI0|Q9H7R7	Silent	SNP	ENST00000367467.3	37	CCDS5212.1																																																																																			.		0.567	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042619.1	NM_015278	
SCLY	51540	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	2	238990418	238990418	+	Missense_Mutation	SNP	C	C	A	rs140009501		TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr2:238990418C>A	ENST00000555827.1	+	5	617	c.553C>A	c.(553-555)Cgc>Agc	p.R185S	SCLY_ENST00000409736.2_Missense_Mutation_p.R185S|SCLY_ENST00000254663.6_Missense_Mutation_p.R193S|SCLY_ENST00000422984.2_Missense_Mutation_p.R91S|SCLY_ENST00000373332.3_Missense_Mutation_p.R103S|SCLY_ENST00000429612.2_Intron			Q96I15	SCLY_HUMAN	selenocysteine lyase	185					cellular amino acid metabolic process (GO:0006520)	cytosol (GO:0005829)	pyridoxal phosphate binding (GO:0030170)|selenocysteine lyase activity (GO:0009000)|transferase activity (GO:0016740)			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	22		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)		CGCGGCAGTCCGCCCGACCAC	0.577																																					p.R193S	Melanoma(24;424 891 11947 32582 36034)|Ovarian(46;648 1065 26199 32764 45893)	.											.	SCLY	92	0			c.C577A						.						109.0	91.0	97.0					2																	238990418		2203	4300	6503	SO:0001583	missense	51540	exon5			GCAGTCCGCCCGA	AF175767	CCDS2524.1, CCDS2524.2	2q37.3	2008-02-05			ENSG00000132330	ENSG00000132330			18161	protein-coding gene	gene with protein product	"""putative selenocysteine lyase"""	611056				10692412	Standard	NM_016510		Approved	SCL	uc010fyv.4	Q96I15	OTTHUMG00000133336	ENST00000555827.1:c.553C>A	2.37:g.238990418C>A	ENSP00000450613:p.Arg185Ser	101.0	0.0		139.0	28.0	NM_016510	B9A068|J3KN06|Q53SN1|Q53SN8|Q7L670|Q9NVT7|Q9NZR7	Missense_Mutation	SNP	ENST00000555827.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.7|20.7	4.036739|4.036739	0.75617|0.75617	.|.	.|.	ENSG00000132330|ENSG00000132330	ENST00000437134|ENST00000254663;ENST00000555827;ENST00000373332;ENST00000413463;ENST00000409736;ENST00000422984;ENST00000450965	.|T;T;T;D;T;T;T	.|0.86097	.|2.01;2.01;1.59;-2.07;1.59;2.01;1.59	5.84|5.84	5.84|5.84	0.93424|0.93424	.|Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.91492|0.91492	0.7314|0.7314	M|M	0.77486|0.77486	2.375|2.375	0.80722|0.80722	D|D	1|1	.|D;D;P	.|0.60575	.|0.974;0.988;0.92	.|P;P;P	.|0.59012	.|0.731;0.85;0.527	D|D	0.91579|0.91579	0.5277|0.5277	5|10	.|0.59425	.|D	.|0.04	-17.0765|-17.0765	18.9105|18.9105	0.92483|0.92483	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|91;185;185	.|E7ESG3;Q96I15;Q96I15-2	.|.;SCLY_HUMAN;.	Q|S	28|193;185;103;99;185;91;15	.|ENSP00000254663:R193S;ENSP00000450613:R185S;ENSP00000362429:R103S;ENSP00000414165:R99S;ENSP00000387162:R185S;ENSP00000416865:R91S;ENSP00000414053:R15S	.|ENSP00000254663:R185S	P|R	+|+	2|1	0|0	SCLY|SCLY	238655157|238655157	1.000000|1.000000	0.71417|0.71417	0.957000|0.957000	0.39632|0.39632	0.064000|0.064000	0.16182|0.16182	3.095000|3.095000	0.50235|0.50235	2.764000|2.764000	0.94973|0.94973	0.655000|0.655000	0.94253|0.94253	CCG|CGC	C|1.000;T|0.000		0.577	SCLY-204	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_016510	
SEC14L4	284904	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	22	30899672	30899672	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr22:30899672C>T	ENST00000255858.7	-	2	205	c.122G>A	c.(121-123)tGg>tAg	p.W41*	SEC14L4_ENST00000392772.2_5'UTR|SEC14L4_ENST00000540456.1_Missense_Mutation_p.G10S|SEC14L4_ENST00000381982.3_Nonsense_Mutation_p.W41*	NM_001161368.1|NM_174977.3	NP_001154840.1|NP_777637.1	Q9UDX3	S14L4_HUMAN	SEC14-like 4 (S. cerevisiae)	41						integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	ACCTCGCAGCCAGCGCAGGAG	0.612																																					p.W41X		.											.	SEC14L4	91	0			c.G122A						.						95.0	81.0	86.0					22																	30899672		2203	4300	6503	SO:0001587	stop_gained	284904	exon2			CGCAGCCAGCGCA	AY158085	CCDS13878.1, CCDS54517.1	22q12.1	2003-03-10			ENSG00000133488	ENSG00000133488			20627	protein-coding gene	gene with protein product		612825					Standard	NM_174977		Approved	TAP3, dJ130H16.5	uc003aid.2	Q9UDX3	OTTHUMG00000151258	ENST00000255858.7:c.122G>A	22.37:g.30899672C>T	ENSP00000255858:p.Trp41*	62.0	0.0		72.0	13.0	NM_001161368	A5D6W7|A6NCV4	Nonsense_Mutation	SNP	ENST00000255858.7	37	CCDS13878.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.1|29.1	4.980158|4.980158	0.92982|0.92982	.|.	.|.	ENSG00000133488|ENSG00000133488	ENST00000540456|ENST00000255858;ENST00000381982	T|.	0.70399|.	-0.48|.	4.96|4.96	4.96|4.96	0.65561|0.65561	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.43853|.	0.1266|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|.	0.30179|.	-0.9987|.	8|.	0.52906|0.02654	T|T	0.07|1	2.4821|2.4821	16.8641|16.8641	0.86025|0.86025	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	10|.	G3V1L4|.	.|.	S|X	10|41	ENSP00000440848:G10S|.	ENSP00000440848:G10S|ENSP00000255858:W41X	G|W	-|-	1|2	0|0	SEC14L4|SEC14L4	29229672|29229672	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.635000|0.635000	0.38103|0.38103	6.147000|6.147000	0.71783|0.71783	2.691000|2.691000	0.91804|0.91804	0.585000|0.585000	0.79938|0.79938	GGC|TGG	.		0.612	SEC14L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321946.1	NM_174977	
SEC16A	9919	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	139361447	139361447	+	Silent	SNP	A	A	G			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr9:139361447A>G	ENST00000371706.3	-	4	3390	c.3357T>C	c.(3355-3357)taT>taC	p.Y1119Y	SEC16A_ENST00000290037.6_Silent_p.Y1119Y|SEC16A_ENST00000313050.7_Silent_p.Y1297Y|SEC16A_ENST00000431893.2_Silent_p.Y1119Y			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1119	Required for endoplasmic reticulum localization.				COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		TGTATGCGTCATACTCTGCAT	0.607																																					p.Y1297Y		.											.	.	.	0			c.T3891C						.						74.0	79.0	78.0					9																	139361447		2003	4160	6163	SO:0001819	synonymous_variant	9919	exon6			TGCGTCATACTCT	AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.3357T>C	9.37:g.139361447A>G		48.0	0.0		62.0	14.0	NM_014866	A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Silent	SNP	ENST00000371706.3	37																																																																																				.		0.607	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1	XM_088459	
SEC24B	10427	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	110442311	110442311	+	Silent	SNP	C	C	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr4:110442311C>T	ENST00000265175.5	+	13	2339	c.2284C>T	c.(2284-2286)Cta>Tta	p.L762L	SEC24B_ENST00000399100.2_Silent_p.L727L|SEC24B_ENST00000504968.2_Silent_p.L792L	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	762					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|aorta morphogenesis (GO:0035909)|auditory receptor cell stereocilium organization (GO:0060088)|cellular protein metabolic process (GO:0044267)|cochlear nucleus development (GO:0021747)|COPII vesicle coating (GO:0048208)|coronary artery morphogenesis (GO:0060982)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|lung lobe morphogenesis (GO:0060463)|membrane organization (GO:0061024)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|pulmonary artery morphogenesis (GO:0061156)|regulation of cargo loading into COPII-coated vesicle (GO:1901301)|regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|membrane (GO:0016020)	transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		ACTTGTGAATCTATATGAAAG	0.244																																					p.L762L		.											.	SEC24B	137	0			c.C2284T						.						62.0	58.0	59.0					4																	110442311		1782	4042	5824	SO:0001819	synonymous_variant	10427	exon13			GTGAATCTATATG	AJ131245	CCDS43260.1, CCDS47124.1, CCDS75179.1	4q25	2013-10-21	2013-10-21		ENSG00000138802	ENSG00000138802			10704	protein-coding gene	gene with protein product		607184	"""SEC24 (S. cerevisiae) related gene family, member B"", ""SEC24 family, member B (S. cerevisiae)"""			10075675, 10329445	Standard	XM_005262688		Approved		uc003hzk.3	O95487	OTTHUMG00000161372	ENST00000265175.5:c.2284C>T	4.37:g.110442311C>T		112.0	0.0		62.0	13.0	NM_006323	B7ZKM8|B7ZKN4|Q0VG08	Silent	SNP	ENST00000265175.5	37	CCDS47124.1																																																																																			.		0.244	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364693.2		
SEL1L	6400	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	81955626	81955626	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr14:81955626C>A	ENST00000336735.4	-	14	1481	c.1365G>T	c.(1363-1365)atG>atT	p.M455I		NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	455	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway (GO:0007219)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		AGAGGTAGGCCATTCCAAGCC	0.423																																					p.M455I		.											.	SEL1L	227	0			c.G1365T						.						98.0	90.0	93.0					14																	81955626		2203	4300	6503	SO:0001583	missense	6400	exon14			GTAGGCCATTCCA		CCDS9876.1, CCDS58333.1	14q31	2011-03-31	2001-11-28		ENSG00000071537	ENSG00000071537			10717	protein-coding gene	gene with protein product	"""sel-1 suppressor of lin-12-like 1 (C. elegans)"""	602329	"""sel-1 (suppressor of lin-12, C.elegans)-like"""			9417916, 10051412, 16331677	Standard	NM_005065		Approved	IBD2, SEL1L1	uc010tvv.2	Q9UBV2		ENST00000336735.4:c.1365G>T	14.37:g.81955626C>A	ENSP00000337053:p.Met455Ile	160.0	0.0		182.0	25.0	NM_005065	Q6UWT6|Q9P1T9|Q9UHK7	Missense_Mutation	SNP	ENST00000336735.4	37	CCDS9876.1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.298139	0.60086	.	.	ENSG00000071537	ENST00000336735	T	0.49432	0.78	5.6	5.6	0.85130	Tetratricopeptide-like helical (1);	0.039238	0.85682	D	0.000000	T	0.29914	0.0748	N	0.04994	-0.135	0.80722	D	1	B	0.18310	0.027	B	0.22880	0.042	T	0.11155	-1.0599	10	0.19590	T	0.45	.	17.7997	0.88583	0.0:1.0:0.0:0.0	.	455	Q9UBV2	SE1L1_HUMAN	I	455	ENSP00000337053:M455I	ENSP00000337053:M455I	M	-	3	0	SEL1L	81025379	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.793000	0.75130	2.640000	0.89533	0.655000	0.94253	ATG	.		0.423	SEL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413325.1	NM_005065	
SEMA3C	10512	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	80432091	80432091	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr7:80432091T>C	ENST00000265361.3	-	9	1367	c.806A>G	c.(805-807)gAc>gGc	p.D269G	SEMA3C_ENST00000536800.1_Missense_Mutation_p.D121G|SEMA3C_ENST00000419255.2_Missense_Mutation_p.D269G|SEMA3C_ENST00000544525.1_Missense_Mutation_p.D287G	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	269	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|blood vessel remodeling (GO:0001974)|cardiac right ventricle morphogenesis (GO:0003215)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|immune response (GO:0006955)|limb bud formation (GO:0060174)|neural crest cell migration (GO:0001755)|neural tube development (GO:0021915)|outflow tract morphogenesis (GO:0003151)|post-embryonic development (GO:0009791)|pulmonary myocardium development (GO:0003350)|response to drug (GO:0042493)|somitogenesis (GO:0001756)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TCCACCAGTGTCATTCTAAAA	0.403																																					p.D269G		.											.	SEMA3C	515	0			c.A806G						.						93.0	85.0	88.0					7																	80432091		2203	4300	6503	SO:0001583	missense	10512	exon9			CCAGTGTCATTCT	AB000220	CCDS5596.1	7q21-q31	2013-01-11			ENSG00000075223	ENSG00000075223		"""Semaphorins"", ""Immunoglobulin superfamily / I-set domain containing"""	10725	protein-coding gene	gene with protein product		602645		SEMAE		7748561, 9168980	Standard	NM_006379		Approved	SemE	uc003uhj.3	Q99985	OTTHUMG00000023447	ENST00000265361.3:c.806A>G	7.37:g.80432091T>C	ENSP00000265361:p.Asp269Gly	76.0	1.0		68.0	12.0	NM_006379	B4DRL8	Missense_Mutation	SNP	ENST00000265361.3	37	CCDS5596.1	.	.	.	.	.	.	.	.	.	.	T	26.9	4.784585	0.90282	.	.	ENSG00000075223	ENST00000265361;ENST00000419255;ENST00000544525;ENST00000536800	T;T;T;T	0.60548	0.18;0.18;0.18;0.18	5.73	5.73	0.89815	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	D	0.84705	0.5531	H	0.97440	4.005	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.90255	0.4296	10	0.87932	D	0	.	16.0054	0.80359	0.0:0.0:0.0:1.0	.	121;287;269	B4DRL8;F5H1Z7;Q99985	.;.;SEM3C_HUMAN	G	269;269;287;121	ENSP00000265361:D269G;ENSP00000411193:D269G;ENSP00000445649:D287G;ENSP00000438258:D121G	ENSP00000265361:D269G	D	-	2	0	SEMA3C	80270027	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	8.024000	0.88770	2.178000	0.69098	0.477000	0.44152	GAC	.		0.403	SEMA3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253279.1	NM_006379	
SEMA6A	57556	hgsc.bcm.edu;bcgsc.ca	37	5	115838016	115838016	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr5:115838016delT	ENST00000343348.6	-	3	895	c.108delA	c.(106-108)aaafs	p.K36fs	SEMA6A_ENST00000503962.1_5'UTR|SEMA6A_ENST00000510263.1_Frame_Shift_Del_p.K36fs|SEMA6A_ENST00000257414.8_Frame_Shift_Del_p.K36fs|CTB-118N6.3_ENST00000510682.1_RNA	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	36	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|centrosome localization (GO:0051642)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|positive regulation of neuron migration (GO:2001224)|semaphorin-plexin signaling pathway (GO:0071526)	axon (GO:0030424)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		CCGGATACTGTTTTGTATCTG	0.493																																					p.K36fs		.											.	SEMA6A	92	0			c.108delA						.						168.0	163.0	165.0					5																	115838016		1986	4167	6153	SO:0001589	frameshift_variant	57556	exon3			ATACTGTTTTGTA	AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"""Semaphorins"""	10738	protein-coding gene	gene with protein product	"""sema VIa"""	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.108delA	5.37:g.115838016delT	ENSP00000345512:p.Lys36fs	296.0	1.0		323.0	98.0	NM_020796	Q9P2H9	Frame_Shift_Del	DEL	ENST00000343348.6	37	CCDS47256.1																																																																																			.		0.493	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371270.1	NM_020796	
SEMA6A	57556	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	115811300	115811300	+	Splice_Site	SNP	C	C	G			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr5:115811300C>G	ENST00000343348.6	-	16	2437		c.e16-1		CTB-118N6.3_ENST00000514214.1_RNA|SEMA6A_ENST00000510263.1_Splice_Site|SEMA6A_ENST00000257414.8_Splice_Site|SEMA6A_ENST00000282394.6_Splice_Site|CTB-118N6.3_ENST00000507558.1_RNA|CTB-118N6.3_ENST00000510682.1_RNA|CTB-118N6.3_ENST00000508640.1_RNA	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A						apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|centrosome localization (GO:0051642)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|positive regulation of neuron migration (GO:2001224)|semaphorin-plexin signaling pathway (GO:0071526)	axon (GO:0030424)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		AAAAGTCAGTCTTTTAAAAAA	0.383																																					.		.											.	SEMA6A	92	0			c.1650-1G>C						.						50.0	46.0	47.0					5																	115811300		1874	4107	5981	SO:0001630	splice_region_variant	57556	exon17			GTCAGTCTTTTAA	AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"""Semaphorins"""	10738	protein-coding gene	gene with protein product	"""sema VIa"""	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.1650-1G>C	5.37:g.115811300C>G		70.0	0.0		80.0	8.0	NM_020796	Q9P2H9	Splice_Site	SNP	ENST00000343348.6	37	CCDS47256.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.570226	0.86542	.	.	ENSG00000092421	ENST00000343348;ENST00000257414;ENST00000515129;ENST00000282394;ENST00000510263	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.4745	0.99168	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SEMA6A	115839199	1.000000	0.71417	0.995000	0.50966	0.980000	0.70556	7.242000	0.78210	2.941000	0.99782	0.655000	0.94253	.	.		0.383	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371270.1	NM_020796	Intron
SETDB1	9869	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	1	150915464	150915464	+	Silent	SNP	T	T	C			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr1:150915464T>C	ENST00000271640.5	+	7	1000	c.810T>C	c.(808-810)gaT>gaC	p.D270D	SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000368969.4_Silent_p.D270D|SETDB1_ENST00000368962.2_Silent_p.D270D|SETDB1_ENST00000368963.1_Intron	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	270	Tudor 1.				bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			AATACAAAGATGGGAATCAGG	0.502																																					p.D270D		.											.	SETDB1	228	0			c.T810C						.						151.0	141.0	144.0					1																	150915464		2203	4300	6503	SO:0001819	synonymous_variant	9869	exon7			CAAAGATGGGAAT	D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Tudor domain containing"""	10761	protein-coding gene	gene with protein product	"""tudor domain containing 21"""	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.810T>C	1.37:g.150915464T>C		210.0	0.0		384.0	37.0	NM_012432	A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Silent	SNP	ENST00000271640.5	37	CCDS44217.1																																																																																			.		0.502	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084717.2		
SFXN1	94081	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	174937183	174937183	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr5:174937183G>A	ENST00000321442.5	+	4	661	c.407G>A	c.(406-408)aGa>aAa	p.R136K	SFXN1_ENST00000502393.1_Missense_Mutation_p.R136K	NM_022754.5	NP_073591.2	Q9H9B4	SFXN1_HUMAN	sideroflexin 1	136					erythrocyte differentiation (GO:0030218)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(3)	15	all_cancers(89;0.00922)|Renal(175;0.000269)|Lung NSC(126;0.00515)|all_lung(126;0.00873)	Medulloblastoma(196;0.0399)|all_neural(177;0.0663)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TACACCAACAGAAGTGGAGAC	0.483																																					p.R136K		.											.	SFXN1	91	0			c.G407A						.						144.0	111.0	122.0					5																	174937183		2203	4300	6503	SO:0001583	missense	94081	exon4			CCAACAGAAGTGG	AF327346	CCDS4394.1	5q35.3	2008-02-05			ENSG00000164466	ENSG00000164466		"""Sideroflexins"""	16085	protein-coding gene	gene with protein product		615569					Standard	NM_022754		Approved	FLJ12876	uc003mda.2	Q9H9B4	OTTHUMG00000130555	ENST00000321442.5:c.407G>A	5.37:g.174937183G>A	ENSP00000316905:p.Arg136Lys	178.0	1.0		176.0	20.0	NM_022754	B3KPW3|D3DQN2|Q9HA53	Missense_Mutation	SNP	ENST00000321442.5	37	CCDS4394.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.424272	0.83667	.	.	ENSG00000164466	ENST00000507017;ENST00000321442;ENST00000506963	T;T;T	0.37058	1.22;1.22;1.22	5.48	4.61	0.57282	.	0.000000	0.85682	D	0.000000	T	0.68007	0.2954	M	0.92691	3.335	0.80722	D	1	D;D	0.89917	0.972;1.0	P;D	0.91635	0.874;0.999	T	0.75703	-0.3225	10	0.49607	T	0.09	-25.9016	14.7947	0.69868	0.0:0.0:0.855:0.145	.	136;136	D6RFI0;Q9H9B4	.;SFXN1_HUMAN	K	136	ENSP00000420961:R136K;ENSP00000316905:R136K;ENSP00000421467:R136K	ENSP00000316905:R136K	R	+	2	0	SFXN1	174869789	1.000000	0.71417	0.471000	0.27229	0.487000	0.33371	9.731000	0.98807	1.297000	0.44761	0.655000	0.94253	AGA	.		0.483	SFXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252980.2	NM_022754	
SHROOM4	57477	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	50345797	50345797	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chrX:50345797A>G	ENST00000289292.7	-	7	4061	c.3778T>C	c.(3778-3780)Ttt>Ctt	p.F1260L	SHROOM4_ENST00000460112.3_Missense_Mutation_p.F1144L|SHROOM4_ENST00000376020.2_Missense_Mutation_p.F1260L			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1260	ASD2. {ECO:0000255|PROSITE- ProRule:PRU00638}.				actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					GGAGGCGAAAAGTGCTGAAAC	0.448																																					p.F1260L		.											.	SHROOM4	131	0			c.T3778C						.						57.0	51.0	53.0					X																	50345797		2203	4300	6503	SO:0001583	missense	57477	exon7			GCGAAAAGTGCTG	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.3778T>C	X.37:g.50345797A>G	ENSP00000289292:p.Phe1260Leu	152.0	0.0		92.0	19.0	NM_020717	A7E2X9|D6RFW0|Q96LA0	Missense_Mutation	SNP	ENST00000289292.7	37	CCDS35277.1	.	.	.	.	.	.	.	.	.	.	A	5.736	0.320178	0.10845	.	.	ENSG00000158352	ENST00000289292;ENST00000376020;ENST00000460112	T;T;T	0.14022	2.96;2.96;2.54	5.25	3.94	0.45596	Apx/shroom, ASD2 (2);	0.146353	0.45867	D	0.000329	T	0.06462	0.0166	N	0.14661	0.345	0.28172	N	0.928549	B	0.06786	0.001	B	0.04013	0.001	T	0.22556	-1.0213	10	0.23302	T	0.38	.	4.3338	0.11076	0.4994:0.1515:0.0:0.3492	.	1260	Q9ULL8	SHRM4_HUMAN	L	1260;1260;1144	ENSP00000289292:F1260L;ENSP00000365188:F1260L;ENSP00000421450:F1144L	ENSP00000289292:F1260L	F	-	1	0	SHROOM4	50362537	0.997000	0.39634	1.000000	0.80357	0.118000	0.20060	0.898000	0.28404	1.869000	0.54173	0.417000	0.27973	TTT	.		0.448	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717	
SIGLEC11	114132	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	50464033	50464033	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr19:50464033C>T	ENST00000447370.2	-	2	326	c.236G>A	c.(235-237)aGc>aAc	p.S79N	SIGLEC11_ENST00000426971.2_Missense_Mutation_p.S79N|CTC-326K19.6_ENST00000451973.1_5'Flank	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	79	Ig-like V-type.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		CGTCTTTGGGCTGGTCCGTCC	0.597																																					p.S79N		.											.	SIGLEC11	94	0			c.G236A						.						49.0	43.0	45.0					19																	50464033		2202	4300	6502	SO:0001583	missense	114132	exon2			TTTGGGCTGGTCC	AF337818	CCDS12790.2, CCDS46150.1	19q13.3	2013-01-29			ENSG00000161640	ENSG00000161640		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15622	protein-coding gene	gene with protein product		607157				11986327	Standard	NM_052884		Approved		uc010ybi.2	Q96RL6	OTTHUMG00000157077	ENST00000447370.2:c.236G>A	19.37:g.50464033C>T	ENSP00000412361:p.Ser79Asn	176.0	0.0		221.0	27.0	NM_052884		Missense_Mutation	SNP	ENST00000447370.2	37	CCDS12790.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.006|0.006	-2.083052|-2.083052	0.00371|0.00371	.|.	.|.	ENSG00000161640|ENSG00000161640	ENST00000426971|ENST00000447370;ENST00000458019	T|T	0.47177|0.66460	0.85|-0.21	2.63|2.63	-3.85|-3.85	0.04243|0.04243	.|Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.|2.404500	.|0.01193	.|N	.|0.007397	T|T	0.41971|0.41971	0.1182|0.1182	N|N	0.04132|0.04132	-0.27|-0.27	0.09310|0.09310	N|N	1|1	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.04013	.|0.001;0.0	T|T	0.37842|0.37842	-0.9688|-0.9688	6|10	.|0.13470	.|T	.|0.59	.|.	9.7995|9.7995	0.40755|0.40755	0.0:0.64:0.0:0.36|0.0:0.64:0.0:0.36	.|.	.|79;79	.|Q96RL6-2;Q96RL6	.|.;SIG11_HUMAN	T|N	69|79	ENSP00000398891:A69T|ENSP00000412361:S79N	.|ENSP00000412361:S79N	A|S	-|-	1|2	0|0	SIGLEC11|SIGLEC11	55155845|55155845	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-2.396000|-2.396000	0.01052|0.01052	-1.250000|-1.250000	0.02497|0.02497	-1.456000|-1.456000	0.01031|0.01031	GCC|AGC	.		0.597	SIGLEC11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347382.1	NM_052884	
SLC13A3	64849	broad.mit.edu;ucsc.edu;bcgsc.ca	37	20	45204256	45204256	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr20:45204256T>A	ENST00000279027.4	-	10	1306	c.1288A>T	c.(1288-1290)Atc>Ttc	p.I430F	SLC13A3_ENST00000472148.1_Missense_Mutation_p.I348F|SLC13A3_ENST00000435032.1_Intron|SLC13A3_ENST00000396360.1_Missense_Mutation_p.I348F|SLC13A3_ENST00000495082.1_Missense_Mutation_p.I383F|SLC13A3_ENST00000290317.5_Missense_Mutation_p.I383F|SLC13A3_ENST00000413164.2_Missense_Mutation_p.I380F	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	430					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-affinity sodium:dicarboxylate symporter activity (GO:0015362)			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	AGGAGAAGGATGATGTTCCAG	0.617																																					p.I430F		.											.	SLC13A3	91	0			c.A1288T						.						85.0	67.0	73.0					20																	45204256		2203	4300	6503	SO:0001583	missense	64849	exon10			GAAGGATGATGTT	AF154121	CCDS13400.1, CCDS42886.1, CCDS54469.1, CCDS54470.1	20q13.12	2013-05-22			ENSG00000158296	ENSG00000158296		"""Solute carriers"""	14430	protein-coding gene	gene with protein product		606411				10794676, 10992006	Standard	NM_001011554		Approved	NADC3, SDCT2	uc002xsf.2	Q8WWT9	OTTHUMG00000033042	ENST00000279027.4:c.1288A>T	20.37:g.45204256T>A	ENSP00000279027:p.Ile430Phe	114.0	1.0		116.0	21.0	NM_022829	B4DIR8|E1P5U4|F6WI18|Q5JYC9|Q5JYD0|Q5JYD1|Q5TCQ2|Q8IVB1|Q8N8K4|Q96MM5|Q9BR25|Q9H1G1|Q9H3W4|Q9NQN5|Q9NS04	Missense_Mutation	SNP	ENST00000279027.4	37	CCDS13400.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.616873	0.87359	.	.	ENSG00000158296	ENST00000290317;ENST00000396360;ENST00000279027;ENST00000472148;ENST00000413164;ENST00000495082;ENST00000468915	T;T;T;T;T;T;T	0.02552	4.25;4.25;4.25;4.25;4.25;4.25;4.25	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.11836	0.0288	M	0.73319	2.225	0.80722	D	1	B;D;B;D	0.59357	0.097;0.985;0.154;0.979	B;P;B;P	0.59643	0.271;0.861;0.076;0.851	T	0.00300	-1.1835	10	0.87932	D	0	-24.4321	14.1776	0.65552	0.0:0.0:0.0:1.0	.	380;348;383;430	B4DIR8;Q8WWT9-3;F6WI18;Q8WWT9	.;.;.;S13A3_HUMAN	F	383;348;430;348;380;383;383	ENSP00000290317:I383F;ENSP00000379648:I348F;ENSP00000279027:I430F;ENSP00000420177:I348F;ENSP00000415852:I380F;ENSP00000419621:I383F;ENSP00000417784:I383F	ENSP00000279027:I430F	I	-	1	0	SLC13A3	44637663	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.174000	0.58256	1.944000	0.56390	0.533000	0.62120	ATC	.		0.617	SLC13A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080329.2		
SLC33A1	9197	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	155571758	155571758	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr3:155571758C>T	ENST00000392845.3	-	1	409	c.29G>A	c.(28-30)aGc>aAc	p.S10N	SLC33A1_ENST00000359479.3_Missense_Mutation_p.S10N|SLC33A1_ENST00000460729.1_5'Flank			O00400	ACATN_HUMAN	solute carrier family 33 (acetyl-CoA transporter), member 1	10					acetyl-CoA transport (GO:0015876)|cell death (GO:0008219)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	acetyl-CoA transporter activity (GO:0008521)			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TTGCCGGCTGCTGTCCTTGTG	0.612																																					p.S10N		.											.	SLC33A1	156	0			c.G29A						.						25.0	30.0	28.0					3																	155571758		2187	4268	6455	SO:0001583	missense	9197	exon1			CGGCTGCTGTCCT	D88152	CCDS3173.1	3q25.31	2013-05-22		2002-12-06	ENSG00000169359	ENSG00000169359		"""Solute carriers"""	95	protein-coding gene	gene with protein product		603690	"""acetyl-Coenzyme A transporter"", ""spastic paraplegia 42 (autosomal dominant)"""	ACATN, SPG42		9096318, 19061983	Standard	NM_004733		Approved	AT-1, AT1	uc003fao.2	O00400	OTTHUMG00000158481	ENST00000392845.3:c.29G>A	3.37:g.155571758C>T	ENSP00000376587:p.Ser10Asn	188.0	0.0		177.0	79.0	NM_004733	B2R5Q2|D3DNK4	Missense_Mutation	SNP	ENST00000392845.3	37	CCDS3173.1	.	.	.	.	.	.	.	.	.	.	C	11.90	1.777797	0.31502	.	.	ENSG00000169359	ENST00000392845;ENST00000359479	T;T	0.72615	-0.67;-0.67	4.95	-5.36	0.02689	Major facilitator superfamily domain, general substrate transporter (1);	0.631198	0.18395	N	0.142532	T	0.51890	0.1701	N	0.24115	0.695	0.24318	N	0.99506	B	0.02656	0.0	B	0.04013	0.001	T	0.12656	-1.0539	10	0.19147	T	0.46	0.0017	18.1138	0.89543	0.0:0.9078:0.0:0.0922	.	10	O00400	ACATN_HUMAN	N	10	ENSP00000376587:S10N;ENSP00000352456:S10N	ENSP00000352456:S10N	S	-	2	0	SLC33A1	157054452	0.830000	0.29337	0.620000	0.29132	0.833000	0.47200	-0.557000	0.05985	-1.339000	0.02230	-0.355000	0.07637	AGC	.		0.612	SLC33A1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351130.3	NM_004733	
SLC36A2	153201	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	150715069	150715069	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	A	A	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr5:150715069A>G	ENST00000335244.4	-	6	694	c.565T>C	c.(565-567)Tcc>Ccc	p.S189P	SLC36A2_ENST00000521967.1_Missense_Mutation_p.S189P	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	189					amino acid transport (GO:0006865)|ion transport (GO:0006811)|proline transmembrane transport (GO:0035524)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen:amino acid symporter activity (GO:0005280)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Cycloserine(DB00260)	GTCTCATTGGAATAGCAGTTG	0.522																																					p.S189P		.											.	SLC36A2	91	0			c.T565C						.						234.0	218.0	223.0					5																	150715069		2203	4300	6503	SO:0001583	missense	153201	exon6			CATTGGAATAGCA	AY162214	CCDS4315.1	5q33.1	2013-05-22			ENSG00000186335	ENSG00000186335		"""Solute carriers"""	18762	protein-coding gene	gene with protein product		608331				11959859	Standard	NM_181776		Approved	PAT2, tramdorin, TRAMD1	uc003lty.3	Q495M3	OTTHUMG00000130129	ENST00000335244.4:c.565T>C	5.37:g.150715069A>G	ENSP00000334223:p.Ser189Pro	183.0	1.0		225.0	72.0	NM_181776	Q495M4|Q495M6|Q6ZWK5|Q7Z6B5	Missense_Mutation	SNP	ENST00000335244.4	37	CCDS4315.1	.	.	.	.	.	.	.	.	.	.	a	3.080	-0.189162	0.06299	.	.	ENSG00000186335	ENST00000335244;ENST00000521967	T;T	0.11277	3.59;2.79	4.52	-9.04	0.00734	.	1.931810	0.02210	N	0.063065	T	0.04724	0.0128	N	0.16307	0.4	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.12837	0.008;0.008	T	0.32666	-0.9898	10	0.21540	T	0.41	4.338	0.969	0.01412	0.2533:0.293:0.1257:0.3281	.	189;189	E5RJJ5;Q495M3	.;S36A2_HUMAN	P	189	ENSP00000334223:S189P;ENSP00000430535:S189P	ENSP00000334223:S189P	S	-	1	0	SLC36A2	150695262	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.611000	0.05622	-2.729000	0.00385	-1.551000	0.00897	TCC	.		0.522	SLC36A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252437.1		
SLC4A2	6522	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	7	150773389	150773389	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr7:150773389G>A	ENST00000485713.1	+	23	4701	c.3661G>A	c.(3661-3663)Gca>Aca	p.A1221T	SLC4A2_ENST00000413384.2_Missense_Mutation_p.A1221T|SLC4A2_ENST00000392826.2_Missense_Mutation_p.A1212T|RP11-148K1.12_ENST00000485974.1_RNA|FASTK_ENST00000489884.1_5'Flank|SLC4A2_ENST00000461735.1_Missense_Mutation_p.A1207T|SLC4A2_ENST00000310317.5_Missense_Mutation_p.A1139T	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	1221	Membrane (anion exchange).				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGCTAACGAGGCAGAGCCGGT	0.632																																					p.A1221T		.											.	SLC4A2	90	0			c.G3661A						.						60.0	51.0	54.0					7																	150773389		2202	4300	6502	SO:0001583	missense	6522	exon23			AACGAGGCAGAGC		CCDS5917.1, CCDS56520.1, CCDS56521.1	7q36.1	2013-07-19	2013-07-19		ENSG00000164889	ENSG00000164889		"""Solute carriers"""	11028	protein-coding gene	gene with protein product	"""anion exchanger 2 type a"", ""anion exchanger 2 type b1"", ""anion exchanger 2 type b2"""	109280	"""erythrocyte membrane protein band 3-like 1"", ""solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)"""	EPB3L1, AE2		8434259	Standard	NM_003040		Approved	HKB3, BND3L, NBND3	uc003wit.4	P04920	OTTHUMG00000158443	ENST00000485713.1:c.3661G>A	7.37:g.150773389G>A	ENSP00000419412:p.Ala1221Thr	97.0	0.0		116.0	21.0	NM_003040	B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	Missense_Mutation	SNP	ENST00000485713.1	37	CCDS5917.1	.	.	.	.	.	.	.	.	.	.	G	17.42	3.385894	0.61956	.	.	ENSG00000164889	ENST00000485713;ENST00000413384;ENST00000310317;ENST00000392826;ENST00000461735	T;T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13;-1.13	5.08	4.13	0.48395	.	0.000000	0.85682	D	0.000000	D	0.86527	0.5954	M	0.91920	3.255	0.54753	D	0.999987	B;P;B	0.36633	0.364;0.562;0.427	B;P;B	0.49829	0.236;0.623;0.418	D	0.86766	0.1970	10	0.40728	T	0.16	.	12.0057	0.53257	0.0:0.0:0.8265:0.1735	.	1212;1207;1221	F8W682;P04920-2;P04920	.;.;B3A2_HUMAN	T	1221;1221;1139;1212;1207	ENSP00000419412:A1221T;ENSP00000405600:A1221T;ENSP00000311402:A1139T;ENSP00000376571:A1212T;ENSP00000419164:A1207T	ENSP00000311402:A1139T	A	+	1	0	SLC4A2	150404322	1.000000	0.71417	0.997000	0.53966	0.898000	0.52572	6.630000	0.74272	2.361000	0.80049	0.655000	0.94253	GCA	.		0.632	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351039.1	NM_003040	
SLC9A4	389015	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	103090418	103090418	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr2:103090418T>C	ENST00000295269.4	+	1	657	c.200T>C	c.(199-201)gTg>gCg	p.V67A		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	67					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						TATGACTATGTGCAAATTCCT	0.418																																					p.V67A		.											.	SLC9A4	92	0			c.T200C						.						128.0	122.0	124.0					2																	103090418		2203	4300	6503	SO:0001583	missense	389015	exon1			ACTATGTGCAAAT		CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"""Solute carriers"""	11077	protein-coding gene	gene with protein product		600531	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 4"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 4"""			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.200T>C	2.37:g.103090418T>C	ENSP00000295269:p.Val67Ala	141.0	0.0		164.0	48.0	NM_001011552	Q69YK0	Missense_Mutation	SNP	ENST00000295269.4	37	CCDS33264.1	.	.	.	.	.	.	.	.	.	.	T	28.7	4.941453	0.92526	.	.	ENSG00000180251	ENST00000295269	T	0.70749	-0.51	6.04	6.04	0.98038	.	0.122712	0.56097	D	0.000028	D	0.82797	0.5115	M	0.66939	2.045	0.58432	D	0.999996	D	0.71674	0.998	D	0.70935	0.971	D	0.84458	0.0592	10	0.87932	D	0	.	16.5885	0.84745	0.0:0.0:0.0:1.0	.	67	Q6AI14	SL9A4_HUMAN	A	67	ENSP00000295269:V67A	ENSP00000295269:V67A	V	+	2	0	SLC9A4	102456850	1.000000	0.71417	0.991000	0.47740	0.992000	0.81027	7.295000	0.78780	2.317000	0.78254	0.460000	0.39030	GTG	.		0.418	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1	NM_001011552.3	
SLC9A4	389015	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	103124608	103124608	+	Silent	SNP	C	C	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr2:103124608C>A	ENST00000295269.4	+	5	1726	c.1269C>A	c.(1267-1269)atC>atA	p.I423I		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	423					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						ACCAGTGCATCATTTTCTACA	0.433																																					p.I423I		.											.	SLC9A4	92	0			c.C1269A						.						171.0	165.0	167.0					2																	103124608		2203	4300	6503	SO:0001819	synonymous_variant	389015	exon5			GTGCATCATTTTC		CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"""Solute carriers"""	11077	protein-coding gene	gene with protein product		600531	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 4"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 4"""			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.1269C>A	2.37:g.103124608C>A		358.0	0.0		414.0	60.0	NM_001011552	Q69YK0	Silent	SNP	ENST00000295269.4	37	CCDS33264.1																																																																																			.		0.433	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1	NM_001011552.3	
SLC9A2	6549	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	103300730	103300730	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr2:103300730T>C	ENST00000233969.2	+	5	1502	c.1360T>C	c.(1360-1362)Ttt>Ctt	p.F454L		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	454					ion transport (GO:0006811)|protein localization (GO:0008104)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						TGCTGCTGTGTTTCCTCGGAA	0.438																																					p.F454L		.											.	SLC9A2	157	0			c.T1360C						.						259.0	242.0	248.0					2																	103300730		2203	4300	6503	SO:0001583	missense	6549	exon5			GCTGTGTTTCCTC		CCDS2062.1	2q11.2	2013-05-22	2012-03-22		ENSG00000115616	ENSG00000115616		"""Solute carriers"""	11072	protein-coding gene	gene with protein product		600530	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 2"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 2"""	NHE2			Standard	NM_003048		Approved		uc002tca.3	Q9UBY0	OTTHUMG00000130778	ENST00000233969.2:c.1360T>C	2.37:g.103300730T>C	ENSP00000233969:p.Phe454Leu	347.0	0.0		427.0	102.0	NM_003048	B2RMS2	Missense_Mutation	SNP	ENST00000233969.2	37	CCDS2062.1	.	.	.	.	.	.	.	.	.	.	T	20.0	3.931198	0.73327	.	.	ENSG00000115616	ENST00000233969	T	0.13196	2.61	5.62	5.62	0.85841	Cation/H+ exchanger (1);	0.059515	0.64402	D	0.000003	T	0.23054	0.0557	L	0.31420	0.93	0.50632	D	0.99988	D	0.69078	0.997	D	0.64877	0.93	T	0.04090	-1.0978	10	0.19590	T	0.45	.	15.8096	0.78547	0.0:0.0:0.0:1.0	.	454	Q9UBY0	SL9A2_HUMAN	L	454	ENSP00000233969:F454L	ENSP00000233969:F454L	F	+	1	0	SLC9A2	102667162	1.000000	0.71417	1.000000	0.80357	0.287000	0.27160	3.184000	0.50926	2.127000	0.65507	0.533000	0.62120	TTT	.		0.438	SLC9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253292.2		
SLC9C1	285335	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	111899481	111899481	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr3:111899481C>A	ENST00000305815.5	-	22	2930	c.2678G>T	c.(2677-2679)tGt>tTt	p.C893F	SLC9C1_ENST00000487372.1_Missense_Mutation_p.C845F	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	893					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										ATCATTTCCACAATCAAATGT	0.313																																					p.C893F		.											.	.	.	0			c.G2678T						.						141.0	140.0	140.0					3																	111899481		2203	4300	6503	SO:0001583	missense	285335	exon22			TTTCCACAATCAA	AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"""Solute carriers"""	31401	protein-coding gene	gene with protein product	"""sperm-NHE"""	612738	"""solute carrier family 9, isoform 10"", ""solute carrier family 9, member 10"""	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.2678G>T	3.37:g.111899481C>A	ENSP00000306627:p.Cys893Phe	348.0	2.0		328.0	46.0	NM_183061	Q6ZRP4|Q7RTP2	Missense_Mutation	SNP	ENST00000305815.5	37	CCDS33817.1	.	.	.	.	.	.	.	.	.	.	C	10.10	1.256753	0.22965	.	.	ENSG00000172139	ENST00000305815;ENST00000487372	D;D	0.92545	-3.06;-3.06	5.39	5.39	0.77823	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.64402	D	0.000011	D	0.93419	0.7901	L	0.46157	1.445	0.34759	D	0.732605	D;D	0.89917	0.967;1.0	P;D	0.91635	0.758;0.999	D	0.91890	0.5523	10	0.11182	T	0.66	-21.8768	14.7339	0.69402	0.0:1.0:0.0:0.0	.	845;893	Q4G0N8-2;Q4G0N8	.;S9A10_HUMAN	F	893;845	ENSP00000306627:C893F;ENSP00000420688:C845F	ENSP00000306627:C893F	C	-	2	0	SLC9A10	113382171	1.000000	0.71417	1.000000	0.80357	0.483000	0.33249	2.425000	0.44723	2.529000	0.85273	0.398000	0.26397	TGT	.		0.313	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354066.1	NM_183061	
SLC9C2	284525	broad.mit.edu;bcgsc.ca	37	1	173545808	173545808	+	Silent	SNP	T	T	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr1:173545808T>A	ENST00000367714.3	-	8	1316	c.894A>T	c.(892-894)gtA>gtT	p.V298V	SLC9C2_ENST00000536496.1_Silent_p.V196V|RP3-436N22.3_ENST00000431459.1_RNA|SLC9C2_ENST00000466087.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	298					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										ACTTAGTAATTACAAGTTCGA	0.413																																					p.V298V		.											.	.	.	0			c.A894T						.						76.0	73.0	74.0					1																	173545808		2203	4300	6503	SO:0001819	synonymous_variant	284525	exon8			AGTAATTACAAGT	AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"""Solute carriers"""	28664	protein-coding gene	gene with protein product			"""solute carrier family 9, isoform 11"", ""solute carrier family 9, member 11"", ""solute carrier family 9, member C2"""	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.894A>T	1.37:g.173545808T>A		60.0	1.0		100.0	7.0	NM_178527	Q86UF3	Silent	SNP	ENST00000367714.3	37	CCDS1308.1																																																																																			.		0.413	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1	NM_178527	
SLIT1	6585	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	98764566	98764566	+	Silent	SNP	C	C	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr10:98764566C>T	ENST00000266058.4	-	33	3839	c.3594G>A	c.(3592-3594)gaG>gaA	p.E1198E	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Silent_p.E1198E	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	1198	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		TCCCATTGTCCTCTGCCGTGG	0.607																																					p.E1198E		.											.	SLIT1	94	0			c.G3594A						.						251.0	180.0	204.0					10																	98764566		2203	4300	6503	SO:0001819	synonymous_variant	6585	exon33			ATTGTCCTCTGCC	AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"""slit (Drosophila) homolog 1"""	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.3594G>A	10.37:g.98764566C>T		268.0	1.0		330.0	60.0	NM_003061	Q5T0V1|Q8WWZ2|Q9UIL7	Silent	SNP	ENST00000266058.4	37	CCDS7453.1																																																																																			.		0.607	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061	
SLK	9748	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	105763103	105763103	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr10:105763103A>G	ENST00000369755.3	+	9	2712	c.2167A>G	c.(2167-2169)Aaa>Gaa	p.K723E	SLK_ENST00000335753.4_Missense_Mutation_p.K723E	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	723					apoptotic process (GO:0006915)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TGGAGAAAATAAAGAAGAAAT	0.373																																					p.K723E	NSCLC(111;540 1651 1927 4474 17706)	.											.	SLK	549	0			c.A2167G						.						48.0	51.0	50.0					10																	105763103		2203	4300	6503	SO:0001583	missense	9748	exon9			GAAAATAAAGAAG		CCDS7553.1	10q25.1	2010-06-25	2010-06-25		ENSG00000065613	ENSG00000065613			11088	protein-coding gene	gene with protein product			"""SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast)"", ""STE20-like kinase (yeast)"""			3526554	Standard	NM_014720		Approved	STK2, se20-9, KIAA0204	uc001kxo.1	Q9H2G2	OTTHUMG00000018999	ENST00000369755.3:c.2167A>G	10.37:g.105763103A>G	ENSP00000358770:p.Lys723Glu	40.0	0.0		40.0	12.0	NM_014720	D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	Missense_Mutation	SNP	ENST00000369755.3	37	CCDS7553.1	.	.	.	.	.	.	.	.	.	.	A	8.487	0.861211	0.17178	.	.	ENSG00000065613	ENST00000335753;ENST00000369755	T;T	0.70045	-0.45;-0.45	5.71	5.71	0.89125	Protein kinase-like domain (1);	0.382752	0.29348	N	0.012408	T	0.62196	0.2408	M	0.63428	1.95	0.45108	D	0.99812	B;B	0.19583	0.037;0.022	B;B	0.19148	0.024;0.011	T	0.58624	-0.7604	10	0.31617	T	0.26	.	11.086	0.48086	0.9281:0.0:0.0719:0.0	.	723;723	Q9H2G2-2;Q9H2G2	.;SLK_HUMAN	E	723	ENSP00000336824:K723E;ENSP00000358770:K723E	ENSP00000336824:K723E	K	+	1	0	SLK	105753093	1.000000	0.71417	0.994000	0.49952	0.092000	0.18411	4.782000	0.62396	2.184000	0.69523	0.454000	0.30748	AAA	.		0.373	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050188.1	NM_014720	
SMC5	23137	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	72895730	72895730	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr9:72895730G>T	ENST00000361138.5	+	6	792	c.734G>T	c.(733-735)aGa>aTa	p.R245I		NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	245					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|mitotic nuclear division (GO:0007067)|positive regulation of maintenance of mitotic sister chromatid cohesion (GO:0034184)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|telomere maintenance via recombination (GO:0000722)	cell junction (GO:0030054)|chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						AGGAATGAAAGATATAAACAA	0.338																																					p.R245I		.											.	SMC5	229	0			c.G734T						.						135.0	142.0	140.0					9																	72895730		2203	4300	6503	SO:0001583	missense	23137	exon6			ATGAAAGATATAA	AB011166	CCDS6632.1	9q21.11	2008-02-05	2006-07-06	2006-07-06	ENSG00000198887	ENSG00000198887		"""Structural maintenance of chromosomes proteins"""	20465	protein-coding gene	gene with protein product		609386	"""SMC5 structural maintenance of chromosomes 5-like 1 (yeast)"""	SMC5L1		9628581	Standard	NM_015110		Approved	KIAA0594	uc004ahr.2	Q8IY18	OTTHUMG00000019992	ENST00000361138.5:c.734G>T	9.37:g.72895730G>T	ENSP00000354957:p.Arg245Ile	31.0	0.0		35.0	5.0	NM_015110	A6NM81|O60335|Q05D92|Q5VZ60|Q96SB9	Missense_Mutation	SNP	ENST00000361138.5	37	CCDS6632.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.465506	0.84425	.	.	ENSG00000198887	ENST00000361138	T	0.80909	-1.43	5.2	5.2	0.72013	RecF/RecN/SMC (1);	0.053403	0.64402	D	0.000001	D	0.89550	0.6747	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.89234	0.3579	10	0.45353	T	0.12	-15.6154	18.7238	0.91705	0.0:0.0:1.0:0.0	.	245	Q8IY18	SMC5_HUMAN	I	245	ENSP00000354957:R245I	ENSP00000354957:R245I	R	+	2	0	SMC5	72085550	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.556000	0.82233	2.441000	0.82636	0.591000	0.81541	AGA	.		0.338	SMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052603.1	NM_015110	
MIEF2	125170	hgsc.bcm.edu;mdanderson.org	37	17	18167688	18167688	+	Silent	SNP	G	G	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr17:18167688G>A	ENST00000323019.4	+	4	1186	c.975G>A	c.(973-975)ctG>ctA	p.L325L	MIEF2_ENST00000395706.2_Silent_p.L336L|MIEF2_ENST00000395704.4_3'UTR	NM_001144900.1|NM_139162.3	NP_001138372.1|NP_631901.2	Q96C03	MID49_HUMAN	mitochondrial elongation factor 2	325					mitochondrion organization (GO:0007005)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein targeting to membrane (GO:0090314)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)											TGGAGGGGCTGGCGGGGAACC	0.682																																					p.L336L		.											.	SMCR7	90	0			c.G1008A						.						47.0	55.0	52.0					17																	18167688		2203	4296	6499	SO:0001819	synonymous_variant	125170	exon4			GGGGCTGGCGGGG	BC014973	CCDS11193.1, CCDS45624.1, CCDS45625.1	17p11.2	2013-09-23	2013-09-23	2013-09-23	ENSG00000177427	ENSG00000177427			17920	protein-coding gene	gene with protein product		615498	"""Smith-Magenis syndrome chromosome region, candidate 7"""	SMCR7		11997338, 21508961	Standard	NM_001144900		Approved	MGC23130, MiD49	uc010vxq.2	Q96C03	OTTHUMG00000059392	ENST00000323019.4:c.975G>A	17.37:g.18167688G>A		8.0	0.0		14.0	12.0	NM_148886	J3KPT3|Q6ZRD4|Q96N07	Silent	SNP	ENST00000323019.4	37	CCDS11193.1																																																																																			.		0.682	MIEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132060.2	NM_139162	
SORD	6652	broad.mit.edu;bcgsc.ca	37	15	45332630	45332630	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr15:45332630G>A	ENST00000267814.9	+	2	271	c.91G>A	c.(91-93)Ggc>Agc	p.G31S	RP11-109D20.1_ENST00000560324.1_RNA|SORD_ENST00000558580.1_Missense_Mutation_p.G10S	NM_003104.5	NP_003095.2	Q00796	DHSO_HUMAN	sorbitol dehydrogenase	31					fructose biosynthetic process (GO:0046370)|glucose metabolic process (GO:0006006)|L-xylitol catabolic process (GO:0051160)|L-xylitol metabolic process (GO:0051164)|sorbitol catabolic process (GO:0006062)|sperm motility (GO:0030317)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|motile cilium (GO:0031514)	carbohydrate binding (GO:0030246)|L-iditol 2-dehydrogenase activity (GO:0003939)|NAD binding (GO:0051287)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(3)|lung(4)	9		all_cancers(109;3.43e-12)|all_epithelial(112;2.33e-10)|Lung NSC(122;6.01e-07)|all_lung(180;4.38e-06)|Melanoma(134;0.0122)		all cancers(107;1.6e-18)|GBM - Glioblastoma multiforme(94;4.95e-07)|COAD - Colon adenocarcinoma(120;0.0704)|Colorectal(133;0.0706)		CCCTGAACCAGGCCCAAATGG	0.333																																					p.G31S		.											.	SORD	90	0			c.G91A						.						61.0	64.0	63.0					15																	45332630		2198	4298	6496	SO:0001583	missense	6652	exon2			GAACCAGGCCCAA		CCDS10116.1	15q15-q21.1	2012-10-02			ENSG00000140263	ENSG00000140263	1.1.1.14		11184	protein-coding gene	gene with protein product		182500				7782086	Standard	NM_003104		Approved		uc001zul.4	Q00796	OTTHUMG00000131265	ENST00000267814.9:c.91G>A	15.37:g.45332630G>A	ENSP00000267814:p.Gly31Ser	497.0	2.0		498.0	58.0	NM_003104	B2R655|B7Z3A6|J3JZZ5|Q16682|Q9UMD6	Missense_Mutation	SNP	ENST00000267814.9	37	CCDS10116.1	.	.	.	.	.	.	.	.	.	.	G	15.81	2.944175	0.53079	.	.	ENSG00000140263	ENST00000267814	T	0.02472	4.28	4.64	4.64	0.57946	GroES-like (1);	0.000000	0.85682	D	0.000000	T	0.04363	0.0120	L	0.39514	1.22	0.80722	D	1	B	0.32620	0.378	B	0.34824	0.19	T	0.52305	-0.8593	10	0.42905	T	0.14	-7.2182	17.0243	0.86441	0.0:0.0:1.0:0.0	.	31	Q00796	DHSO_HUMAN	S	31	ENSP00000267814:G31S	ENSP00000267814:G31S	G	+	1	0	SORD	43119922	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.688000	0.84153	2.574000	0.86865	0.643000	0.83706	GGC	.		0.333	SORD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254033.3		
SPAG17	200162	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	118558673	118558673	+	Missense_Mutation	SNP	T	T	G			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr1:118558673T>G	ENST00000336338.5	-	29	4267	c.4202A>C	c.(4201-4203)aAt>aCt	p.N1401T		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1401						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GCCGATCCGATTTCCTTCAGG	0.463																																					p.N1401T		.											.	SPAG17	158	0			c.A4202C						.						171.0	177.0	175.0					1																	118558673		2203	4300	6503	SO:0001583	missense	200162	exon29			ATCCGATTTCCTT		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.4202A>C	1.37:g.118558673T>G	ENSP00000337804:p.Asn1401Thr	320.0	0.0		218.0	49.0	NM_206996	Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	CCDS899.1	.	.	.	.	.	.	.	.	.	.	T	3.268	-0.149720	0.06585	.	.	ENSG00000155761	ENST00000336338	T	0.17213	2.29	4.72	0.71	0.18157	.	1.384010	0.04043	N	0.303385	T	0.04227	0.0117	L	0.44542	1.39	0.21064	N	0.999798	B	0.12013	0.005	B	0.09377	0.004	T	0.36089	-0.9762	10	0.29301	T	0.29	.	1.3661	0.02201	0.1536:0.1161:0.3462:0.3841	.	1401	Q6Q759	SPG17_HUMAN	T	1401	ENSP00000337804:N1401T	ENSP00000337804:N1401T	N	-	2	0	SPAG17	118360196	0.505000	0.26131	0.948000	0.38648	0.262000	0.26303	0.556000	0.23438	0.694000	0.31654	0.377000	0.23210	AAT	.		0.463	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996	
SPATA31C1	441452	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	9	90535712	90535712	+	RNA	SNP	A	A	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr9:90535712A>T	ENST00000602681.1	+	0	1616							P0DKV0	S31C1_HUMAN	SPATA31 subfamily C, member 1						cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TGGTCGCAGGAGACTACCAAA	0.552																																					p.E297V		.											.	.	.	0			c.A890T						.						79.0	75.0	76.0					9																	90535712		692	1591	2283			441452	exon4			CGCAGGAGACTAC	AK093374		9q22.1	2014-03-18	2012-10-12	2012-10-12	ENSG00000230246	ENSG00000230246			27846	other	unknown			"""family with sequence similarity 75, member C1"""	FAM75C1			Standard	NM_001145124		Approved	FLJ36055	uc010mqi.3	P0DKV0	OTTHUMG00000020160		9.37:g.90535712A>T		251.0	0.0		260.0	55.0	NM_001145124		Missense_Mutation	SNP	ENST00000602681.1	37																																																																																				.		0.552	SPATA31C1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467313.1	NM_001145124	
SPI1	6688	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	11	47376978	47376978	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr11:47376978G>C	ENST00000378538.3	-	5	835	c.613C>G	c.(613-615)Cac>Gac	p.H205D	MYBPC3_ENST00000545968.1_5'Flank|SPI1_ENST00000227163.4_Missense_Mutation_p.H206D|SPI1_ENST00000533030.1_3'UTR|MYBPC3_ENST00000399249.2_5'Flank|MYBPC3_ENST00000256993.4_5'Flank	NM_001080547.1|NM_003120.2	NP_001074016.1|NP_003111.2	P17947	SPI1_HUMAN	Spi-1 proto-oncogene	205					anatomical structure regression (GO:0060033)|apoptotic process involved in patterning of blood vessels (GO:1902262)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|histone H3 acetylation (GO:0043966)|hypermethylation of CpG island (GO:0044027)|lymphocyte differentiation (GO:0030098)|lymphoid progenitor cell differentiation (GO:0002320)|macrophage differentiation (GO:0030225)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of histone H4 acetylation (GO:0090241)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of erythrocyte differentiation (GO:0045646)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|somatic stem cell maintenance (GO:0035019)	nuclear chromatin (GO:0000790)	core promoter binding (GO:0001047)|NFAT protein binding (GO:0051525)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|lung(4)|ovary(1)	8				Lung(87;0.0967)		GCCTCCTTGTGCTTGGACGAG	0.617																																					p.H206D		.											.	SPI1	226	0			c.C616G						.						96.0	83.0	87.0					11																	47376978		2201	4298	6499	SO:0001583	missense	6688	exon5			CCTTGTGCTTGGA	X52056	CCDS7933.2, CCDS44591.1	11p12-p11.22	2014-06-25	2014-06-25		ENSG00000066336	ENSG00000066336			11241	protein-coding gene	gene with protein product	"""hematopoietic transcription factor PU.1"", ""31 kDa transforming protein"""	165170	"""spleen focus forming virus (SFFV) proviral integration oncogene"""			1693183	Standard	NM_003120		Approved	PU.1, SPI-A, OF, SFPI1, SPI-1	uc001nfb.1	P17947	OTTHUMG00000150150	ENST00000378538.3:c.613C>G	11.37:g.47376978G>C	ENSP00000367799:p.His205Asp	117.0	0.0		109.0	19.0	NM_001080547		Missense_Mutation	SNP	ENST00000378538.3	37	CCDS7933.2	.	.	.	.	.	.	.	.	.	.	g	22.0	4.226466	0.79576	.	.	ENSG00000066336	ENST00000378538;ENST00000227163	T;T	0.10099	2.91;2.91	4.23	3.31	0.37934	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.000000	0.85682	D	0.000000	T	0.13500	0.0327	N	0.17345	0.48	0.80722	D	1	D;D	0.69078	0.992;0.997	D;D	0.66351	0.943;0.932	T	0.10291	-1.0636	10	0.10111	T	0.7	-18.2234	12.2235	0.54447	0.0845:0.0:0.9155:0.0	.	205;206	P17947;P17947-2	SPI1_HUMAN;.	D	205;206	ENSP00000367799:H205D;ENSP00000227163:H206D	ENSP00000227163:H206D	H	-	1	0	SPI1	47333554	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.542000	0.82095	0.896000	0.36366	0.479000	0.44913	CAC	.		0.617	SPI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316571.1	NM_003120	
SPIN4	139886	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	62570078	62570078	+	Silent	SNP	A	A	G			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chrX:62570078A>G	ENST00000335144.3	-	1	1140	c.621T>C	c.(619-621)caT>caC	p.H207H	SPIN4-AS1_ENST00000451979.1_RNA|SPIN4_ENST00000374884.2_Silent_p.H189H	NM_001012968.2	NP_001012986.2	Q56A73	SPIN4_HUMAN	spindlin family, member 4	207					gamete generation (GO:0007276)					endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	11						CATCTTTGGCATGCTCCACCT	0.453																																					p.H207H		.											.	SPIN4	109	0			c.T621C						.						113.0	109.0	110.0					X																	62570078		1978	4141	6119	SO:0001819	synonymous_variant	139886	exon1			TTTGGCATGCTCC	AK126931	CCDS43964.1	Xq11.1	2008-02-05			ENSG00000186767	ENSG00000186767			27040	protein-coding gene	gene with protein product						12477932	Standard	NM_001012968		Approved	FLJ44984	uc004dvf.3	Q56A73	OTTHUMG00000021696	ENST00000335144.3:c.621T>C	X.37:g.62570078A>G		239.0	0.0		192.0	44.0	NM_001012968	B3KX90|Q5JUL2	Silent	SNP	ENST00000335144.3	37	CCDS43964.1																																																																																			.		0.453	SPIN4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001012968	
SPINK6	404203	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	5	147593570	147593570	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr5:147593570C>T	ENST00000325630.2	+	3	435	c.179C>T	c.(178-180)gCc>gTc	p.A60V		NM_001195290.1|NM_205841.3	NP_001182219.1|NP_995313.2	Q6UWN8	ISK6_HUMAN	serine peptidase inhibitor, Kazal type 6	60	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.					extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATAAATGTGCCTTCTGTAAG	0.428																																					p.A60V		.											.	SPINK6	91	0			c.C179T						.						102.0	84.0	90.0					5																	147593570		2203	4300	6503	SO:0001583	missense	404203	exon3			AATGTGCCTTCTG	AY358716	CCDS34268.1	5q32	2011-08-31	2005-08-17		ENSG00000178172	ENSG00000178172		"""Serine peptidase inhibitors, Kazal type"""	29486	protein-coding gene	gene with protein product	"""protease inhibitor H"""	615868	"""serine protease inhibitor, Kazal type 6"""			15060002	Standard	NM_205841		Approved	MGC21394, UNQ844, BUSI2	uc021yff.1	Q6UWN8	OTTHUMG00000163425	ENST00000325630.2:c.179C>T	5.37:g.147593570C>T	ENSP00000324870:p.Ala60Val	66.0	0.0		73.0	12.0	NM_205841	E0X656|Q8N5P0	Missense_Mutation	SNP	ENST00000325630.2	37	CCDS34268.1	.	.	.	.	.	.	.	.	.	.	C	12.89	2.074108	0.36566	.	.	ENSG00000178172	ENST00000325630	T	0.75154	-0.91	5.75	5.75	0.90469	Proteinase inhibitor I1, Kazal (3);	0.343853	0.30159	N	0.010270	T	0.69967	0.3170	.	.	.	0.38896	D	0.957212	B	0.31705	0.336	B	0.37833	0.259	T	0.66716	-0.5853	8	.	.	.	-2.5242	15.8177	0.78615	0.0:1.0:0.0:0.0	.	60	Q6UWN8	ISK6_HUMAN	V	60	ENSP00000324870:A60V	.	A	+	2	0	SPINK6	147573763	0.961000	0.32948	1.000000	0.80357	0.981000	0.71138	2.917000	0.48821	2.885000	0.99019	0.655000	0.94253	GCC	.		0.428	SPINK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373332.1	NM_205841	
SPINT1	6692	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	41137074	41137074	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr15:41137074C>T	ENST00000344051.4	+	2	556	c.322C>T	c.(322-324)Cgc>Tgc	p.R108C	RP11-532F12.5_ENST00000568419.1_RNA|RP11-532F12.5_ENST00000568525.1_RNA|RP11-532F12.5_ENST00000564302.1_RNA|SPINT1_ENST00000562057.1_Missense_Mutation_p.R108C|SPINT1_ENST00000431806.1_Missense_Mutation_p.R108C|RP11-532F12.5_ENST00000565315.1_RNA			O43278	SPIT1_HUMAN	serine peptidase inhibitor, Kunitz type 1	108	MANSC. {ECO:0000255|PROSITE- ProRule:PRU00341}.				branching involved in labyrinthine layer morphogenesis (GO:0060670)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|placenta blood vessel development (GO:0060674)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		GCAGCCCGACCGCGGGGAGGA	0.657																																					p.R108C		.											.	SPINT1	91	0			c.C322T						.						32.0	31.0	31.0					15																	41137074		2203	4299	6502	SO:0001583	missense	6692	exon2			CCCGACCGCGGGG		CCDS10067.1, CCDS45231.1	15q13.3	2008-02-05	2005-08-17		ENSG00000166145	ENSG00000166145			11246	protein-coding gene	gene with protein product		605123	"""serine protease inhibitor, Kunitz type 1"""				Standard	XM_006720657		Approved	HAI, MANSC2	uc001zna.3	O43278	OTTHUMG00000130068	ENST00000344051.4:c.322C>T	15.37:g.41137074C>T	ENSP00000342098:p.Arg108Cys	80.0	0.0		70.0	9.0	NM_181642	Q7Z7D2	Missense_Mutation	SNP	ENST00000344051.4	37	CCDS10067.1	.	.	.	.	.	.	.	.	.	.	C	17.70	3.453648	0.63290	.	.	ENSG00000166145	ENST00000344051;ENST00000536281;ENST00000431806	T;T	0.23348	1.91;1.91	4.98	3.1	0.35709	Seven cysteines (1);Seven cysteines, N-terminal (2);	0.853113	0.10682	N	0.646338	T	0.25121	0.0610	L	0.29908	0.895	0.09310	N	1	D;D;D	0.57571	0.975;0.98;0.975	P;P;P	0.52856	0.594;0.711;0.594	T	0.12967	-1.0527	10	0.56958	D	0.05	-7.0573	2.8482	0.05550	0.1646:0.148:0.5449:0.1426	.	108;108;108	B2RBU9;O43278-2;O43278	.;.;SPIT1_HUMAN	C	108;75;108	ENSP00000342098:R108C;ENSP00000409935:R108C	ENSP00000342098:R108C	R	+	1	0	SPINT1	38924366	0.003000	0.15002	0.858000	0.33744	0.838000	0.47535	0.608000	0.24223	0.621000	0.30232	0.563000	0.77884	CGC	.		0.657	SPINT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252359.2	NM_003710	
ST6GALNAC2	10610	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	74569415	74569415	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr17:74569415C>T	ENST00000225276.5	-	4	711	c.392G>A	c.(391-393)gGc>gAc	p.G131D	ST6GALNAC2_ENST00000586520.1_5'UTR|RP11-666A8.9_ENST00000588104.1_RNA	NM_006456.2	NP_006447.2	Q9UJ37	SIA7B_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2	131					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	sialyltransferase activity (GO:0008373)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	11						ACTCTCTGAGCCGTTCAGAAG	0.647																																					p.G131D		.											.	ST6GALNAC2	90	0			c.G392A						.						24.0	22.0	23.0					17																	74569415		2199	4298	6497	SO:0001583	missense	10610	exon4			TCTGAGCCGTTCA	U14550	CCDS11747.1	17q25.1	2013-03-01	2003-12-05	2005-02-07	ENSG00000070731	ENSG00000070731	2.4.99.7	"""Sialyltransferases"""	10867	protein-coding gene	gene with protein product		610137	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase)"", ""sialyltransferase-like 1"""	SIAT7, SIAT7B, SIATL1		11984005	Standard	NM_006456		Approved	ST6GalNAII, STHM	uc002jsg.4	Q9UJ37	OTTHUMG00000180301	ENST00000225276.5:c.392G>A	17.37:g.74569415C>T	ENSP00000225276:p.Gly131Asp	52.0	0.0		46.0	9.0	NM_006456	Q12971	Missense_Mutation	SNP	ENST00000225276.5	37	CCDS11747.1	.	.	.	.	.	.	.	.	.	.	C	3.794	-0.043111	0.07452	.	.	ENSG00000070731	ENST00000225276	T	0.29142	1.58	4.77	-1.48	0.08745	.	1.506000	0.03537	N	0.223268	T	0.18718	0.0449	L	0.27944	0.81	0.09310	N	1	B	0.14012	0.009	B	0.13407	0.009	T	0.15122	-1.0448	10	0.10902	T	0.67	-0.9537	5.3608	0.16087	0.0:0.3063:0.1658:0.5279	.	131	Q9UJ37	SIA7B_HUMAN	D	131	ENSP00000225276:G131D	ENSP00000225276:G131D	G	-	2	0	ST6GALNAC2	72081010	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-1.158000	0.03153	0.079000	0.16929	0.591000	0.81541	GGC	.		0.647	ST6GALNAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450650.1	NM_006456	
STAT4	6775	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	191898231	191898231	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr2:191898231C>T	ENST00000392320.2	-	20	2151	c.1837G>A	c.(1837-1839)Gac>Aac	p.D613N	STAT4_ENST00000358470.4_Missense_Mutation_p.D613N|STAT4_ENST00000470708.1_5'Flank|AC067945.4_ENST00000456176.1_RNA	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	613	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			TCAGAATGGTCCACCCAGGTG	0.373																																					p.D613N		.											.	STAT4	914	0			c.G1837A						.						54.0	57.0	56.0					2																	191898231		2203	4300	6503	SO:0001583	missense	6775	exon20			AATGGTCCACCCA		CCDS2310.1	2q32.2-q32.3	2013-02-14			ENSG00000138378	ENSG00000138378		"""SH2 domain containing"""	11365	protein-coding gene	gene with protein product		600558				8007943, 8700208	Standard	NM_003151		Approved		uc002usn.2	Q14765	OTTHUMG00000132700	ENST00000392320.2:c.1837G>A	2.37:g.191898231C>T	ENSP00000376134:p.Asp613Asn	92.0	0.0		128.0	36.0	NM_001243835	Q96NZ6	Missense_Mutation	SNP	ENST00000392320.2	37	CCDS2310.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.092704	0.76756	.	.	ENSG00000138378	ENST00000358470;ENST00000392320	D;D	0.89050	-2.46;-2.46	5.95	5.95	0.96441	SH2 motif (4);	0.047577	0.85682	D	0.000000	T	0.81597	0.4856	N	0.12182	0.205	0.80722	D	1	P;P;P	0.43938	0.801;0.684;0.822	B;B;B	0.40825	0.272;0.272;0.341	D	0.84977	0.0886	10	0.87932	D	0	-27.3247	15.9301	0.79651	0.1357:0.8643:0.0:0.0	.	522;613;613	Q53S87;B4DV04;Q14765	.;.;STAT4_HUMAN	N	613	ENSP00000351255:D613N;ENSP00000376134:D613N	ENSP00000351255:D613N	D	-	1	0	STAT4	191606476	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.945000	0.70226	2.821000	0.97095	0.650000	0.86243	GAC	.		0.373	STAT4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335586.1	NM_003151	
STX19	415117	hgsc.bcm.edu;broad.mit.edu	37	3	93733261	93733261	+	Missense_Mutation	SNP	A	A	C			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr3:93733261A>C	ENST00000315099.2	-	2	1109	c.853T>G	c.(853-855)Tgt>Ggt	p.C285G	ARL13B_ENST00000539730.1_Intron|ARL13B_ENST00000486562.1_Intron|ARL13B_ENST00000303097.7_Intron|ARL13B_ENST00000535334.1_Intron|ARL13B_ENST00000394222.3_Intron|ARL13B_ENST00000471138.1_Intron	NM_001001850.2	NP_001001850.1	Q8N4C7	STX19_HUMAN	syntaxin 19	285	Cys-rich.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	integral component of membrane (GO:0016021)				kidney(2)|large_intestine(2)|lung(4)|prostate(1)	9						CAGCACCAACAACACAGTACT	0.318																																					p.C285G		.											.	STX19	90	0			c.T853G						.						49.0	47.0	48.0					3																	93733261		2203	4299	6502	SO:0001583	missense	415117	exon2			ACCAACAACACAG	AF461456	CCDS33793.1	3q11	2005-12-30			ENSG00000178750	ENSG00000178750			19300	protein-coding gene	gene with protein product							Standard	NM_001001850		Approved	MGC21382	uc003drh.1	Q8N4C7	OTTHUMG00000159013	ENST00000315099.2:c.853T>G	3.37:g.93733261A>C	ENSP00000320679:p.Cys285Gly	46.0	0.0		62.0	4.0	NM_001001850		Missense_Mutation	SNP	ENST00000315099.2	37	CCDS33793.1	.	.	.	.	.	.	.	.	.	.	A	15.46	2.841483	0.51057	.	.	ENSG00000178750	ENST00000315099	T	0.52057	0.68	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.70509	0.3232	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.75258	-0.3381	10	0.72032	D	0.01	-11.8478	15.7642	0.78114	1.0:0.0:0.0:0.0	.	285	Q8N4C7	STX19_HUMAN	G	285	ENSP00000320679:C285G	ENSP00000320679:C285G	C	-	1	0	STX19	95215951	1.000000	0.71417	0.997000	0.53966	0.924000	0.55760	8.678000	0.91211	2.260000	0.74910	0.528000	0.53228	TGT	.		0.318	STX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352909.1	NM_001001850	
SUPT3H	8464	broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	44797582	44797582	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr6:44797582T>A	ENST00000371459.1	-	11	1090	c.925A>T	c.(925-927)Agg>Tgg	p.R309W	SUPT3H_ENST00000371460.1_Missense_Mutation_p.R320W|SUPT3H_ENST00000371458.1_Missense_Mutation_p.Q98L|SUPT3H_ENST00000371461.2_Missense_Mutation_p.R320W|SUPT3H_ENST00000306867.5_Missense_Mutation_p.R309W	NM_001261823.1|NM_003599.3	NP_001248752.1|NP_003590.1	O75486	SUPT3_HUMAN	suppressor of Ty 3 homolog (S. cerevisiae)	391					chromatin organization (GO:0006325)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	transcription coactivator activity (GO:0003713)			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	12						ATCCCATTCCTGCGGTAGGCA	0.418																																					p.R320W		.											.	SUPT3H	92	0			c.A958T						.						157.0	152.0	153.0					6																	44797582		2203	4299	6502	SO:0001583	missense	8464	exon13			CATTCCTGCGGTA	AF069734	CCDS34465.1, CCDS34466.1, CCDS75464.1	6p21.1-p12.3	2008-05-15	2001-11-28		ENSG00000196284	ENSG00000196284			11466	protein-coding gene	gene with protein product		602947	"""suppressor of Ty (S.cerevisiae) 3 homolog"""			9674425, 9726987	Standard	NM_003599		Approved	SPT3, SPT3L	uc003oxp.4	O75486	OTTHUMG00000014773	ENST00000371459.1:c.925A>T	6.37:g.44797582T>A	ENSP00000360514:p.Arg309Trp	171.0	1.0		288.0	28.0	NM_181356	A6NKG9|B2R9Q5|O76066|Q5TAV9|Q86VN7	Missense_Mutation	SNP	ENST00000371459.1	37	CCDS34465.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.6|21.6	4.171289|4.171289	0.78452|0.78452	.|.	.|.	ENSG00000196284|ENSG00000196284	ENST00000371458|ENST00000371460;ENST00000371459;ENST00000306867;ENST00000371461	T|T;T;T;T	0.44482|0.50001	0.92|0.76;0.79;0.79;0.76	6.17|6.17	4.99|4.99	0.66335|0.66335	.|.	.|0.102057	.|0.64402	.|D	.|0.000002	T|T	0.50360|0.50360	0.1611|0.1611	L|L	0.44542|0.44542	1.39|1.39	0.37528|0.37528	D|D	0.917801|0.917801	.|D;D	.|0.89917	.|1.0;0.999	.|D;D	.|0.85130	.|0.997;0.99	T|T	0.58261|0.58261	-0.7667|-0.7667	7|10	0.59425|0.66056	D|D	0.04|0.02	.|.	13.556|13.556	0.61759|0.61759	0.0:0.0:0.1299:0.8701|0.0:0.0:0.1299:0.8701	.|.	.|320;391	.|O75486-3;O75486	.|.;SUPT3_HUMAN	L|W	98|320;309;309;320	ENSP00000360513:Q98L|ENSP00000360515:R320W;ENSP00000360514:R309W;ENSP00000306718:R309W;ENSP00000360516:R320W	ENSP00000360513:Q98L|ENSP00000306718:R309W	Q|R	-|-	2|1	0|2	SUPT3H|SUPT3H	44905560|44905560	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	3.179000|3.179000	0.50887|0.50887	1.120000|1.120000	0.41904|0.41904	0.533000|0.533000	0.62120|0.62120	CAG|AGG	.		0.418	SUPT3H-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106911.2	NM_181356	
SURF4	6836	broad.mit.edu;bcgsc.ca	37	9	136230392	136230396	+	Frame_Shift_Del	DEL	CCATG	CCATG	-			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	CCATG	CCATG	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr9:136230392_136230396delCCATG	ENST00000371989.3	-	6	912_916	c.783_787delCATGG	c.(781-789)tccatggatfs	p.MD262fs	SURF4_ENST00000485435.2_Intron|SURF4_ENST00000467910.1_5'Flank|SURF4_ENST00000545297.1_3'UTR	NM_001280788.1|NM_001280790.1|NM_001280791.1|NM_033161.2	NP_001267717.1|NP_001267719.1|NP_001267720.1|NP_149351.1	O15260	SURF4_HUMAN	surfeit 4	262					Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(5)	8				OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)		TTCTTCTCATCCATGGAGACACCCC	0.561																																					p.261_263del		.											.	SURF4	90	0			c.783_787del						.																																			SO:0001589	frameshift_variant	6836	exon6			TCTCATCCATGGA		CCDS6968.1, CCDS65177.1, CCDS65178.1, CCDS75929.1	9q33-q34	2008-07-21			ENSG00000148248	ENSG00000148248			11476	protein-coding gene	gene with protein product	"""surfeit locus protein 4"", ""surface 4 integral membrane protein"""	185660				8499913, 7540914	Standard	NM_033161		Approved	ERV29, FLJ22993, MGC102753	uc004cdj.3	O15260	OTTHUMG00000020868	ENST00000371989.3:c.783_787delCATGG	9.37:g.136230392_136230396delCCATG	ENSP00000361057:p.Met262fs	123.0	0.0		96.0	9.0	NM_033161	B7Z6A4|O60923|Q5T8U6|Q9UNZ0|Q9UNZ1	Frame_Shift_Del	DEL	ENST00000371989.3	37	CCDS6968.1																																																																																			.		0.561	SURF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054886.1	NM_033161	
SYCP2	10388	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	20	58489028	58489028	+	Splice_Site	SNP	A	A	G			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr20:58489028A>G	ENST00000357552.3	-	12	1056		c.e12+1		SYCP2_ENST00000371001.2_Splice_Site			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2						female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			CATTAAGTTTACCTTCTTTTG	0.294																																					.		.											.	SYCP2	525	0			c.830+2T>C						.						68.0	67.0	67.0					20																	58489028		2201	4297	6498	SO:0001630	splice_region_variant	10388	exon12			AAGTTTACCTTCT	Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.830+1T>C	20.37:g.58489028A>G		83.0	0.0		133.0	22.0	NM_014258	A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Splice_Site	SNP	ENST00000357552.3	37	CCDS13482.1	.	.	.	.	.	.	.	.	.	.	A	17.64	3.440185	0.63067	.	.	ENSG00000196074	ENST00000371001;ENST00000357552;ENST00000446834	.	.	.	4.91	4.91	0.64330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8546	0.70326	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SYCP2	57922423	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	8.719000	0.91436	1.968000	0.57251	0.533000	0.62120	.	.		0.294	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258	Intron
SYNE1	23345	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	6	152740828	152740828	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr6:152740828T>C	ENST00000367255.5	-	40	5898	c.5297A>G	c.(5296-5298)gAa>gGa	p.E1766G	SYNE1_ENST00000448038.1_Missense_Mutation_p.E1773G|SYNE1_ENST00000341594.5_Missense_Mutation_p.E1803G|SYNE1_ENST00000265368.4_Missense_Mutation_p.E1766G|SYNE1_ENST00000423061.1_Missense_Mutation_p.E1773G	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1766					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTGCTGGTGTTCAGCAACCAC	0.348										HNSCC(10;0.0054)																											p.E1773G		.											.	SYNE1	607	0			c.A5318G						.						78.0	77.0	78.0					6																	152740828		2203	4300	6503	SO:0001583	missense	23345	exon40			TGGTGTTCAGCAA	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.5297A>G	6.37:g.152740828T>C	ENSP00000356224:p.Glu1766Gly	140.0	0.0		165.0	15.0	NM_033071	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	T	12.96	2.093332	0.36952	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.36157	1.27;1.27;1.27;1.27;1.27	5.21	5.21	0.72293	.	0.091701	0.47093	D	0.000256	T	0.40670	0.1126	L	0.54323	1.7	0.80722	D	1	D;P;P;D	0.59767	0.986;0.839;0.839;0.982	P;B;B;P	0.56751	0.494;0.218;0.218;0.805	T	0.38373	-0.9664	10	0.66056	D	0.02	.	15.382	0.74664	0.0:0.0:0.0:1.0	.	1749;1766;1766;1773	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	G	1766;1773;1766;1773;1803	ENSP00000356224:E1766G;ENSP00000396024:E1773G;ENSP00000265368:E1766G;ENSP00000390975:E1773G;ENSP00000341887:E1803G	ENSP00000265368:E1766G	E	-	2	0	SYNE1	152782521	1.000000	0.71417	0.777000	0.31699	0.723000	0.41478	6.047000	0.71038	2.097000	0.63578	0.528000	0.53228	GAA	.		0.348	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
SYNGR4	23546	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	48879425	48879425	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr19:48879425G>A	ENST00000344846.2	+	5	805	c.555G>A	c.(553-555)atG>atA	p.M185I	SYNGR4_ENST00000601610.1_3'UTR|SYNGR4_ENST00000595322.1_3'UTR	NM_012451.3	NP_036583.2	O95473	SNG4_HUMAN	synaptogyrin 4	185						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_epithelial(76;5.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|Prostate(7;0.0143)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)		AGGGTGGCATGGTGCTGACCA	0.592																																					p.M185I		.											.	SYNGR4	90	0			c.G555A						.						168.0	135.0	146.0					19																	48879425		2203	4300	6503	SO:0001583	missense	23546	exon5			TGGCATGGTGCTG	AJ011733	CCDS12717.1	19q13.3	2008-07-04				ENSG00000105467			11502	protein-coding gene	gene with protein product		608373					Standard	NM_012451		Approved		uc002piz.3	O95473		ENST00000344846.2:c.555G>A	19.37:g.48879425G>A	ENSP00000344041:p.Met185Ile	148.0	0.0		188.0	28.0	NM_012451	Q3KP58	Missense_Mutation	SNP	ENST00000344846.2	37	CCDS12717.1	.	.	.	.	.	.	.	.	.	.	G	7.766	0.706462	0.15239	.	.	ENSG00000105467	ENST00000344846	T	0.40756	1.02	5.51	4.46	0.54185	.	0.171029	0.50627	D	0.000115	T	0.26159	0.0638	N	0.19112	0.55	0.24248	N	0.995334	B	0.09022	0.002	B	0.06405	0.002	T	0.12837	-1.0532	10	0.29301	T	0.29	-24.1945	9.5076	0.39056	0.0:0.1558:0.6826:0.1615	.	185	O95473	SNG4_HUMAN	I	185	ENSP00000344041:M185I	ENSP00000344041:M185I	M	+	3	0	SYNGR4	53571237	0.918000	0.31147	0.997000	0.53966	0.250000	0.25880	0.024000	0.13555	1.451000	0.47736	0.555000	0.69702	ATG	.		0.592	SYNGR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465704.1		
SYT9	143425	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	7334640	7334640	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr11:7334640G>A	ENST00000318881.6	+	3	749	c.512G>A	c.(511-513)cGa>cAa	p.R171Q	SYT9_ENST00000396716.2_Missense_Mutation_p.R139Q	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	171					positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|secretory granule membrane (GO:0030667)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		AATTCAATCCGAAGACAACTC	0.388																																					p.R171Q		.											.	SYT9	155	0			c.G512A						.						44.0	42.0	43.0					11																	7334640		2201	4296	6497	SO:0001583	missense	143425	exon3			CAATCCGAAGACA	AK055003	CCDS7778.1	11p15.4	2013-01-21			ENSG00000170743	ENSG00000170743		"""Synaptotagmins"""	19265	protein-coding gene	gene with protein product		613528				11543631	Standard	NM_175733		Approved		uc001mfe.3	Q86SS6	OTTHUMG00000165499	ENST00000318881.6:c.512G>A	11.37:g.7334640G>A	ENSP00000324419:p.Arg171Gln	95.0	0.0		126.0	25.0	NM_175733		Missense_Mutation	SNP	ENST00000318881.6	37	CCDS7778.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.623302	0.87460	.	.	ENSG00000170743	ENST00000396716;ENST00000318881	T;T	0.56103	0.48;0.5	5.85	5.85	0.93711	.	0.000000	0.56097	D	0.000029	T	0.49745	0.1575	L	0.50333	1.59	0.58432	D	0.999998	B	0.23650	0.089	B	0.23716	0.048	T	0.34700	-0.9818	10	0.25106	T	0.35	.	18.0311	0.89285	0.0:0.0:1.0:0.0	.	171	Q86SS6	SYT9_HUMAN	Q	139;171	ENSP00000379944:R139Q;ENSP00000324419:R171Q	ENSP00000324419:R171Q	R	+	2	0	SYT9	7291216	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.814000	0.86154	2.932000	0.99384	0.643000	0.83706	CGA	.		0.388	SYT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384483.1	NM_175733	
TACR1	6869	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	75278382	75278382	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr2:75278382C>T	ENST00000305249.5	-	4	1693	c.928G>A	c.(928-930)Gac>Aac	p.D310N	TACR1_ENST00000409848.3_Missense_Mutation_p.D310N	NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN	tachykinin receptor 1	310					acute inflammatory response (GO:0002526)|aggressive behavior (GO:0002118)|angiotensin-mediated drinking behavior (GO:0003051)|associative learning (GO:0008306)|behavioral response to pain (GO:0048266)|detection of abiotic stimulus (GO:0009582)|eating behavior (GO:0042755)|inflammatory response (GO:0006954)|long-term memory (GO:0007616)|operant conditioning (GO:0035106)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of action potential (GO:0045760)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of hormone secretion (GO:0046887)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of ossification (GO:0045778)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of saliva secretion (GO:0046878)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vascular permeability (GO:0043117)|positive regulation of vasoconstriction (GO:0045907)|regulation of smooth muscle cell migration (GO:0014910)|regulation of smooth muscle cell proliferation (GO:0048660)|response to auditory stimulus (GO:0010996)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to heat (GO:0009408)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to ozone (GO:0010193)|response to progesterone (GO:0032570)|smooth muscle contraction involved in micturition (GO:0060083)|sperm ejaculation (GO:0042713)|tachykinin receptor signaling pathway (GO:0007217)	cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	substance P receptor activity (GO:0016496)|tachykinin receptor activity (GO:0004995)	p.D310N(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	CCTCACCTGTCATTGAGGCAG	0.532																																					p.D310N	Pancreas(64;62 1268 3653 14826 43765)	.											.	TACR1	523	1	Substitution - Missense(1)	lung(1)	c.G928A						.						187.0	171.0	176.0					2																	75278382		2203	4300	6503	SO:0001583	missense	6869	exon4			ACCTGTCATTGAG	M76675	CCDS1958.1, CCDS46345.1	2p13.1-p12	2012-08-08			ENSG00000115353	ENSG00000115353		"""GPCR / Class A : Tachykinin receptors"""	11526	protein-coding gene	gene with protein product		162323		TAC1R		1657150	Standard	NM_001058		Approved	SPR, NK1R, NKIR	uc002sng.2	P25103	OTTHUMG00000129973	ENST00000305249.5:c.928G>A	2.37:g.75278382C>T	ENSP00000303522:p.Asp310Asn	361.0	1.0		383.0	106.0	NM_001058	A8K150	Missense_Mutation	SNP	ENST00000305249.5	37	CCDS1958.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.994681	0.74703	.	.	ENSG00000115353	ENST00000305249;ENST00000409848	T;T	0.36878	1.23;1.23	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.41696	0.1170	M	0.65498	2.005	0.80722	D	1	P	0.50066	0.931	B	0.43680	0.427	T	0.19614	-1.0300	10	0.27785	T	0.31	.	17.0229	0.86438	0.0:1.0:0.0:0.0	.	310	P25103	NK1R_HUMAN	N	310	ENSP00000303522:D310N;ENSP00000386448:D310N	ENSP00000303522:D310N	D	-	1	0	TACR1	75131890	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	3.852000	0.55934	2.880000	0.98712	0.650000	0.86243	GAC	.		0.532	TACR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252239.3	NM_001058	
TCEB3B	51224	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	18	44560523	44560523	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr18:44560523A>T	ENST00000332567.4	-	1	1465	c.1113T>A	c.(1111-1113)gaT>gaA	p.D371E	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	371					regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CCTCAGCCATATCTACCTCCT	0.512																																					p.D371E		.											.	TCEB3B	156	0			c.T1113A						.						84.0	81.0	82.0					18																	44560523		2203	4300	6503	SO:0001583	missense	51224	exon1			AGCCATATCTACC	BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"""transcription elongation factor (SIII) elongin A2"", ""elongin A2"""	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.1113T>A	18.37:g.44560523A>T	ENSP00000331302:p.Asp371Glu	98.0	0.0		58.0	10.0	NM_016427	Q9P2V9	Missense_Mutation	SNP	ENST00000332567.4	37	CCDS11932.1	.	.	.	.	.	.	.	.	.	.	A	2.337	-0.352039	0.05173	.	.	ENSG00000206181	ENST00000332567	T	0.05199	3.48	1.67	-3.23	0.05109	.	0.233910	0.22976	U	0.053375	T	0.02193	0.0068	N	0.16656	0.425	0.09310	N	1	P	0.36959	0.575	B	0.30782	0.12	T	0.47711	-0.9096	10	0.12766	T	0.61	.	3.5575	0.07870	0.3184:0.4564:0.0:0.2251	.	371	Q8IYF1	ELOA2_HUMAN	E	371	ENSP00000331302:D371E	ENSP00000331302:D371E	D	-	3	2	TCEB3B	42814521	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.910000	0.04054	-0.848000	0.04163	-1.600000	0.00815	GAT	.		0.512	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255900.1	NM_016427	
TCF20	6942	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	22	42606358	42606358	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr22:42606358C>G	ENST00000359486.3	-	1	5090	c.4954G>C	c.(4954-4956)Gct>Cct	p.A1652P	TCF20_ENST00000335626.4_Missense_Mutation_p.A1652P|TCF20_ENST00000404876.1_5'Flank	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1652					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						TCTTCCTCAGCATTGATGATT	0.488																																					p.A1652P		.											.	TCF20	95	0			c.G4954C						.						134.0	135.0	134.0					22																	42606358		2203	4300	6503	SO:0001583	missense	6942	exon1			CCTCAGCATTGAT	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.4954G>C	22.37:g.42606358C>G	ENSP00000352463:p.Ala1652Pro	317.0	0.0		326.0	34.0	NM_181492	A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	ENST00000359486.3	37	CCDS14033.1	.	.	.	.	.	.	.	.	.	.	C	17.85	3.491245	0.64074	.	.	ENSG00000100207	ENST00000359486;ENST00000335626	T;T	0.60920	0.15;0.15	6.07	6.07	0.98685	.	0.000000	0.64402	D	0.000001	T	0.76162	0.3949	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.997	T	0.75590	-0.3265	10	0.72032	D	0.01	-15.2709	20.6439	0.99570	0.0:1.0:0.0:0.0	.	1652;1652	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	P	1652	ENSP00000352463:A1652P;ENSP00000335561:A1652P	ENSP00000335561:A1652P	A	-	1	0	TCF20	40936302	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.022000	0.49659	2.884000	0.98904	0.655000	0.94253	GCT	.		0.488	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492	
TCFL5	10732	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	61488865	61488865	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr20:61488865C>T	ENST00000335351.3	-	4	1212	c.1120G>A	c.(1120-1122)Ggc>Agc	p.G374S	TCFL5_ENST00000217162.5_Missense_Mutation_p.G326S	NM_006602.2	NP_006593.2	Q9UL49	TCFL5_HUMAN	transcription factor-like 5 (basic helix-loop-helix)	374					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|urinary_tract(1)	9	Breast(26;5.68e-08)					TGCCAAGCGCCTTGTGTGGCG	0.587																																					p.G374S		.											.	TCFL5	581	0			c.G1120A						.						123.0	116.0	118.0					20																	61488865		2203	4300	6503	SO:0001583	missense	10732	exon4			AAGCGCCTTGTGT	AB012124	CCDS13506.1	20q13.33	2013-09-19			ENSG00000101190	ENSG00000101190		"""Basic helix-loop-helix proteins"""	11646	protein-coding gene	gene with protein product	"""HPV-16 E2 binding protein 1"""	604745				9763657	Standard	XM_005260185		Approved	Figlb, E2BP-1, CHA, bHLHe82	uc002ydp.3	Q9UL49	OTTHUMG00000032939	ENST00000335351.3:c.1120G>A	20.37:g.61488865C>T	ENSP00000334294:p.Gly374Ser	116.0	0.0		172.0	19.0	NM_006602	O94771|Q9BYW0	Missense_Mutation	SNP	ENST00000335351.3	37	CCDS13506.1	.	.	.	.	.	.	.	.	.	.	C	15.70	2.910245	0.52439	.	.	ENSG00000101190	ENST00000335351;ENST00000217162	T;T	0.38722	1.15;1.12	5.61	5.61	0.85477	.	0.379291	0.22531	N	0.058854	T	0.32734	0.0839	L	0.32530	0.975	0.32594	N	0.526787	P;P	0.38597	0.525;0.639	B;B	0.33454	0.164;0.122	T	0.50955	-0.8766	10	0.59425	D	0.04	-25.5413	14.8546	0.70326	0.0:0.9293:0.0:0.0707	.	326;374	F8W9A4;Q9UL49	.;TCFL5_HUMAN	S	374;326	ENSP00000334294:G374S;ENSP00000217162:G326S	ENSP00000217162:G326S	G	-	1	0	TCFL5	60959310	0.998000	0.40836	0.962000	0.40283	0.005000	0.04900	2.522000	0.45572	2.651000	0.90000	0.585000	0.79938	GGC	.		0.587	TCFL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080079.2	NM_006602	
TDRD5	163589	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	1	179659883	179659883	+	Silent	SNP	T	T	C			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr1:179659883T>C	ENST00000367614.1	+	17	3110	c.2751T>C	c.(2749-2751)gcT>gcC	p.A917A	TDRD5_ENST00000294848.8_Silent_p.A917A|TDRD5_ENST00000444136.1_Silent_p.A971A	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	917					DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						GCAGCCGTGCTATTACATTGT	0.398																																					p.A971A		.											.	TDRD5	94	0			c.T2913C						.						85.0	83.0	84.0					1																	179659883		2203	4300	6503	SO:0001819	synonymous_variant	163589	exon18			CCGTGCTATTACA	AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"""Tudor domain containing"""	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.2751T>C	1.37:g.179659883T>C		70.0	0.0		148.0	12.0	NM_001199085	A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Silent	SNP	ENST00000367614.1	37	CCDS1332.1																																																																																			.		0.398	TDRD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000085295.1	NM_173533	
TEK	7010	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	27173269	27173269	+	Silent	SNP	A	A	G			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr9:27173269A>G	ENST00000380036.4	+	6	1252	c.810A>G	c.(808-810)ggA>ggG	p.G270G	TEK_ENST00000406359.4_Silent_p.G270G|TEK_ENST00000519097.1_Silent_p.G166G	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	270	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	GGTGCAGTGGACAAGAGGGAT	0.483																																					p.G270G		.											.	TEK	1584	0			c.A810G						.						175.0	143.0	154.0					9																	27173269		2203	4300	6503	SO:0001819	synonymous_variant	7010	exon6			CAGTGGACAAGAG	L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11724	protein-coding gene	gene with protein product		600221	"""venous malformations, multiple cutaneous and mucosal"""	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.810A>G	9.37:g.27173269A>G		245.0	0.0		234.0	44.0	NM_000459	A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Silent	SNP	ENST00000380036.4	37	CCDS6519.1																																																																																			.		0.483	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051965.3		
THBD	7056	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	20	23028767	23028767	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr20:23028767G>A	ENST00000377103.2	-	1	1611	c.1375C>T	c.(1375-1377)Ccc>Tcc	p.P459S		NM_000361.2	NP_000352.1	P07204	TRBM_HUMAN	thrombomodulin	459	EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				blood coagulation (GO:0007596)|female pregnancy (GO:0007565)|leukocyte migration (GO:0050900)|negative regulation of blood coagulation (GO:0030195)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of platelet activation (GO:0010544)|response to cAMP (GO:0051591)|response to lipopolysaccharide (GO:0032496)|response to X-ray (GO:0010165)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			endometrium(2)|large_intestine(3)|ovary(1)|skin(1)	7	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)				Drotrecogin alfa(DB00055)|Ibuprofen(DB01050)	AAGGTACCGGGGAGGTTGTGG	0.647																																					p.P459S		.											.	THBD	90	0			c.C1375T						.						37.0	38.0	38.0					20																	23028767		2202	4300	6502	SO:0001583	missense	7056	exon1			TACCGGGGAGGTT		CCDS13148.1	20p11.21	2014-09-17			ENSG00000178726	ENSG00000178726		"""CD molecules"""	11784	protein-coding gene	gene with protein product		188040					Standard	NM_000361		Approved	CD141	uc002wss.3	P07204	OTTHUMG00000032053	ENST00000377103.2:c.1375C>T	20.37:g.23028767G>A	ENSP00000366307:p.Pro459Ser	129.0	0.0		129.0	20.0	NM_000361	Q8IV29|Q9UC32	Missense_Mutation	SNP	ENST00000377103.2	37	CCDS13148.1	.	.	.	.	.	.	.	.	.	.	G	9.617	1.132738	0.21041	.	.	ENSG00000178726	ENST00000377103;ENST00000503590	D	0.91577	-2.87	4.73	3.78	0.43462	EGF-like calcium-binding, conserved site (1);Epidermal growth factor-like (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.551000	0.17133	U	0.185771	D	0.87055	0.6082	M	0.74467	2.265	0.09310	N	0.999999	P	0.46784	0.884	B	0.34452	0.183	T	0.79468	-0.1791	10	0.44086	T	0.13	-5.1892	9.6227	0.39732	0.0807:0.1418:0.7775:0.0	.	459	P07204	TRBM_HUMAN	S	459;441	ENSP00000366307:P459S	ENSP00000366307:P459S	P	-	1	0	THBD	22976767	0.006000	0.16342	0.487000	0.27428	0.004000	0.04260	1.581000	0.36558	1.116000	0.41820	0.561000	0.74099	CCC	.		0.647	THBD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078307.2		
TIAM1	7074	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	21	32638540	32638540	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr21:32638540C>A	ENST00000286827.3	-	5	1220	c.749G>T	c.(748-750)gGg>gTg	p.G250V	TIAM1_ENST00000469412.1_Intron|TIAM1_ENST00000541036.1_Missense_Mutation_p.G250V	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	250					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						AAATTTGCTCCCCGGCCCCCC	0.542																																					p.G250V		.											.	TIAM1	724	0			c.G749T						.						77.0	79.0	78.0					21																	32638540		2203	4300	6503	SO:0001583	missense	7074	exon5			TTGCTCCCCGGCC		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.749G>T	21.37:g.32638540C>A	ENSP00000286827:p.Gly250Val	112.0	0.0		73.0	9.0	NM_003253	B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	C	12.77	2.036423	0.35893	.	.	ENSG00000156299	ENST00000286827;ENST00000399841;ENST00000541036	T;T	0.38401	1.15;1.14	5.4	5.4	0.78164	.	0.227987	0.43919	D	0.000519	T	0.24431	0.0592	N	0.08118	0	0.41091	D	0.985594	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.05632	-1.0873	10	0.48119	T	0.1	.	19.3745	0.94503	0.0:1.0:0.0:0.0	.	250;250;250	F5GZ53;B7ZLR6;Q13009	.;.;TIAM1_HUMAN	V	250;91;250	ENSP00000286827:G250V;ENSP00000441570:G250V	ENSP00000286827:G250V	G	-	2	0	TIAM1	31560411	1.000000	0.71417	0.993000	0.49108	0.993000	0.82548	3.789000	0.55454	2.803000	0.96430	0.585000	0.79938	GGG	.		0.542	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253	
TIMM50	92609	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	39980382	39980382	+	Silent	SNP	G	G	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr19:39980382G>A	ENST00000607714.1	+	11	1006	c.984G>A	c.(982-984)gaG>gaA	p.E328E	TIMM50_ENST00000599794.1_Silent_p.E132E|TIMM50_ENST00000544017.1_Silent_p.E215E|TIMM50_ENST00000314349.4_Silent_p.E431E			Q3ZCQ8	TIM50_HUMAN	translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)	328					cellular protein metabolic process (GO:0044267)|mitochondrial membrane organization (GO:0007006)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein targeting to mitochondrion (GO:0006626)|release of cytochrome c from mitochondria (GO:0001836)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)	interleukin-2 receptor binding (GO:0005134)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|ribonucleoprotein complex binding (GO:0043021)|RNA binding (GO:0003723)			NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GCCTGGCCGAGCTCTCCAAGT	0.632																																					p.E431E		.											.	TIMM50	91	0			c.G1293A						.						59.0	53.0	55.0					19																	39980382		2203	4300	6503	SO:0001819	synonymous_variant	92609	exon11			GGCCGAGCTCTCC	BC009072	CCDS33023.1	19q13.2	2010-06-21	2006-04-04		ENSG00000105197	ENSG00000105197		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	23656	protein-coding gene	gene with protein product		607381	"""translocase of inner mitochondrial membrane 50 homolog (yeast)"""			12437925	Standard	NM_001001563		Approved	TIM50L	uc002olu.1	Q3ZCQ8		ENST00000607714.1:c.984G>A	19.37:g.39980382G>A		93.0	0.0		162.0	20.0	NM_001001563	Q330K1|Q6QA00|Q96FJ5|Q96GY2|Q9H370	Silent	SNP	ENST00000607714.1	37																																																																																				.		0.632	TIMM50-021	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470728.1	NM_001001563	
TLL1	7092	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	166976353	166976353	+	Silent	SNP	T	T	C			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr4:166976353T>C	ENST00000061240.2	+	13	2297	c.1650T>C	c.(1648-1650)aaT>aaC	p.N550N	RNA5SP170_ENST00000517150.1_RNA|TLL1_ENST00000507499.1_Silent_p.N573N	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	550	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		CTACCTCCAATACTTTGTGGA	0.378																																					p.N550N		.											.	TLL1	158	0			c.T1650C						.						122.0	119.0	120.0					4																	166976353		2203	4300	6503	SO:0001819	synonymous_variant	7092	exon13			CTCCAATACTTTG	AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.1650T>C	4.37:g.166976353T>C		112.0	0.0		69.0	14.0	NM_012464	B2RMU2|Q96AN3|Q9NQS4	Silent	SNP	ENST00000061240.2	37	CCDS3811.1																																																																																			.		0.378	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363821.1		
TMEM132D	121256	ucsc.edu;bcgsc.ca	37	12	129559205	129559205	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr12:129559205C>T	ENST00000422113.2	-	9	2841	c.2515G>A	c.(2515-2517)Gga>Aga	p.G839R	TMEM132D_ENST00000389441.4_Missense_Mutation_p.G377R	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	839					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TAGTACTGTCCTTCCTGACTC	0.537																																					p.G839R		.											.	TMEM132D	106	0			c.G2515A						.						128.0	118.0	121.0					12																	129559205		2203	4300	6503	SO:0001583	missense	121256	exon9			ACTGTCCTTCCTG	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.2515G>A	12.37:g.129559205C>T	ENSP00000408581:p.Gly839Arg	342.0	2.0		327.0	109.0	NM_133448	Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	C	9.885	1.202537	0.22121	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	T;T	0.09723	2.95;3.75	4.2	4.2	0.49525	.	0.316889	0.26642	N	0.023243	T	0.17662	0.0424	M	0.70595	2.14	0.09310	N	1	P;B	0.49090	0.919;0.139	B;B	0.43052	0.406;0.108	T	0.11348	-1.0591	9	.	.	.	-21.7574	16.8845	0.86072	0.0:1.0:0.0:0.0	.	839;377	Q14C87;Q14C87-2	T132D_HUMAN;.	R	377;839	ENSP00000374092:G377R;ENSP00000408581:G839R	.	G	-	1	0	TMEM132D	128125158	0.008000	0.16893	0.157000	0.22605	0.052000	0.14988	1.948000	0.40303	2.033000	0.60031	0.462000	0.41574	GGA	.		0.537	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448	
TMEM132D	121256	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	12	129559407	129559407	+	Missense_Mutation	SNP	C	C	G	rs577207277		TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr12:129559407C>G	ENST00000422113.2	-	9	2639	c.2313G>C	c.(2311-2313)atG>atC	p.M771I	TMEM132D_ENST00000389441.4_Missense_Mutation_p.M309I	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	771					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CACTAATAACCATTTCCACCT	0.468																																					p.M771I		.											.	TMEM132D	106	0			c.G2313C						.						153.0	134.0	141.0					12																	129559407		2203	4300	6503	SO:0001583	missense	121256	exon9			AATAACCATTTCC	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.2313G>C	12.37:g.129559407C>G	ENSP00000408581:p.Met771Ile	251.0	0.0		269.0	14.0	NM_133448	Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.804071	0.50315	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	T;T	0.13778	2.56;2.56	4.2	4.2	0.49525	.	0.110120	0.56097	D	0.000021	T	0.21145	0.0509	M	0.79805	2.47	0.50171	D	0.999852	P;P	0.40834	0.631;0.73	B;B	0.40506	0.31;0.331	T	0.03840	-1.0999	9	.	.	.	-46.7885	12.7483	0.57293	0.0:0.8344:0.1656:0.0	.	771;309	Q14C87;Q14C87-2	T132D_HUMAN;.	I	309;771	ENSP00000374092:M309I;ENSP00000408581:M771I	.	M	-	3	0	TMEM132D	128125360	1.000000	0.71417	0.596000	0.28811	0.475000	0.33008	3.701000	0.54793	2.033000	0.60031	0.462000	0.41574	ATG	.		0.468	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448	
TMEM135	65084	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	86782616	86782616	+	Silent	SNP	G	G	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr11:86782616G>A	ENST00000305494.5	+	3	360	c.321G>A	c.(319-321)ctG>ctA	p.L107L	TMEM135_ENST00000340353.7_Silent_p.L107L|TMEM135_ENST00000535167.1_5'UTR|TMEM135_ENST00000532959.1_Intron|TMEM135_ENST00000355734.4_Silent_p.L107L	NM_022918.3	NP_075069.3	Q86UB9	TM135_HUMAN	transmembrane protein 135	107					peroxisome organization (GO:0007031)	integral component of membrane (GO:0016021)|peroxisome (GO:0005777)				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GTGCCGCTCTGCCAGCATCTT	0.373																																					p.L107L		.											.	TMEM135	514	0			c.G321A						.						69.0	73.0	72.0					11																	86782616		2201	4299	6500	SO:0001819	synonymous_variant	65084	exon3			CGCTCTGCCAGCA	BX648678	CCDS8280.1, CCDS53692.1	11q14.2	2006-03-09			ENSG00000166575	ENSG00000166575			26167	protein-coding gene	gene with protein product						12477932	Standard	NM_022918		Approved	FLJ22104	uc001pch.3	Q86UB9	OTTHUMG00000167248	ENST00000305494.5:c.321G>A	11.37:g.86782616G>A		73.0	0.0		62.0	7.0	NM_022918	Q6AW91|Q8ND01|Q9H6M3	Silent	SNP	ENST00000305494.5	37	CCDS8280.1																																																																																			.		0.373	TMEM135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393875.1	NM_022918	
TMEM52B	120939	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	10339065	10339065	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr12:10339065T>C	ENST00000381923.2	+	5	588	c.184T>C	c.(184-186)Tcc>Ccc	p.S62P	TMEM52B_ENST00000298530.3_Missense_Mutation_p.S42P|TMEM52B_ENST00000536952.1_Missense_Mutation_p.S62P			Q4KMG9	TM52B_HUMAN	transmembrane protein 52B	62						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											TGGCCTGACGTCCCTGTGCTT	0.597																																					p.S42P		.											.	.	.	0			c.T124C						.						106.0	89.0	95.0					12																	10339065		2203	4300	6503	SO:0001583	missense	120939	exon3			CTGACGTCCCTGT	AY358845	CCDS8619.1, CCDS66314.1	12p13.2	2012-08-15	2012-08-15	2012-08-15	ENSG00000165685	ENSG00000165685			26438	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 59"""	C12orf59		12975309	Standard	XM_005253299		Approved	FLJ31166	uc001qxq.3	Q4KMG9	OTTHUMG00000168410	ENST00000381923.2:c.184T>C	12.37:g.10339065T>C	ENSP00000371348:p.Ser62Pro	125.0	0.0		152.0	24.0	NM_153022	Q96NA7	Missense_Mutation	SNP	ENST00000381923.2	37		.	.	.	.	.	.	.	.	.	.	T	15.10	2.732160	0.48939	.	.	ENSG00000165685	ENST00000381923;ENST00000298530;ENST00000543484;ENST00000536952	T;T;T;T	0.35789	1.29;1.29;1.29;1.29	5.45	4.29	0.51040	.	0.278907	0.31404	N	0.007708	T	0.47078	0.1426	M	0.62723	1.935	0.09310	N	0.999991	D;D	0.57571	0.98;0.98	P;P	0.55303	0.773;0.698	T	0.39035	-0.9633	10	0.59425	D	0.04	-16.9785	9.589	0.39534	0.1699:0.0:0.0:0.8301	.	62;42	Q4KMG9;Q4KMG9-2	CL059_HUMAN;.	P	62;42;62;62	ENSP00000371348:S62P;ENSP00000298530:S42P;ENSP00000445582:S62P;ENSP00000446102:S62P	ENSP00000298530:S42P	S	+	1	0	C12orf59	10230332	0.460000	0.25776	0.041000	0.18516	0.316000	0.28119	3.312000	0.51927	1.041000	0.40125	0.528000	0.53228	TCC	.		0.597	TMEM52B-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000399645.1	NM_153022	
TRAPPC8	22878	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	18	29511372	29511372	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr18:29511372T>A	ENST00000283351.4	-	2	607	c.272A>T	c.(271-273)gAt>gTt	p.D91V	TRAPPC8_ENST00000582513.1_Missense_Mutation_p.D91V|TRAPPC8_ENST00000582539.1_Missense_Mutation_p.D37V|TRAPPC8_ENST00000584876.1_5'UTR	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	91					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)		p.D91V(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AGAAACAACATCATTCAAAAG	0.408																																					p.D91V		.											.	TRAPPC8	159	1	Substitution - Missense(1)	kidney(1)	c.A272T						.						160.0	156.0	157.0					18																	29511372		2203	4300	6503	SO:0001583	missense	22878	exon2			ACAACATCATTCA	AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339		"""Trafficking protein particle complex"""	29169	protein-coding gene	gene with protein product	"""general sporulation gene 1 homolog (S. cerevisiae)"""	614136	"""KIAA1012"""	KIAA1012		10231032, 11230166	Standard	NM_014939		Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.272A>T	18.37:g.29511372T>A	ENSP00000283351:p.Asp91Val	165.0	0.0		129.0	18.0	NM_014939	A0JP15|B3KME5|Q9H0L2	Missense_Mutation	SNP	ENST00000283351.4	37	CCDS11901.1	.	.	.	.	.	.	.	.	.	.	T	14.75	2.628068	0.46944	.	.	ENSG00000153339	ENST00000283351	T	0.09350	2.99	5.98	5.98	0.97165	.	0.068910	0.64402	D	0.000009	T	0.18964	0.0455	L	0.46157	1.445	0.80722	D	1	P;P	0.52577	0.954;0.919	P;P	0.50754	0.649;0.536	T	0.00349	-1.1798	10	0.39692	T	0.17	.	16.4696	0.84102	0.0:0.0:0.0:1.0	.	91;91	Q6PCC9;Q9Y2L5	.;TPPC8_HUMAN	V	91	ENSP00000283351:D91V	ENSP00000283351:D91V	D	-	2	0	TRAPPC8	27765370	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.922000	0.75811	2.289000	0.77006	0.482000	0.46254	GAT	.		0.408	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255355.1	NM_014939	
TREML4	285852	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	41196565	41196565	+	Silent	SNP	T	T	C			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr6:41196565T>C	ENST00000341495.2	+	2	281	c.177T>C	c.(175-177)tcT>tcC	p.S59S	TREML4_ENST00000448827.2_Silent_p.S59S	NM_198153.2	NP_937796.1	Q6UXN2	TRML4_HUMAN	triggering receptor expressed on myeloid cells-like 4	59	Ig-like V-type.					extracellular region (GO:0005576)				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|skin(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.196)					AGCAGACATCTCCAAGTCGGT	0.522																																					p.S59S		.											.	TREML4	90	0			c.T177C						.						90.0	84.0	86.0					6																	41196565		2203	4300	6503	SO:0001819	synonymous_variant	285852	exon2			GACATCTCCAAGT	AF534826	CCDS34446.1	6p21.1	2013-01-11			ENSG00000188056	ENSG00000188056		"""Immunoglobulin superfamily / V-set domain containing"""	30807	protein-coding gene	gene with protein product	"""TREM like transcript 4"""	614664				12645956	Standard	NM_198153		Approved	TLT4	uc003oqc.3	Q6UXN2	OTTHUMG00000016408	ENST00000341495.2:c.177T>C	6.37:g.41196565T>C		80.0	0.0		125.0	17.0	NM_198153	B7ZL92	Silent	SNP	ENST00000341495.2	37	CCDS34446.1																																																																																			.		0.522	TREML4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043873.2		
TRHDE	29953	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	72936136	72936136	+	Splice_Site	SNP	A	A	G			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr12:72936136A>G	ENST00000261180.4	+	7	1749	c.1653A>G	c.(1651-1653)caA>caG	p.Q551Q		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	551					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						GGGGTTTGCAAGTAAGTAAAA	0.318																																					p.Q551Q		.											.	TRHDE	93	0			c.A1653G						.						99.0	97.0	98.0					12																	72936136		2203	4299	6502	SO:0001630	splice_region_variant	29953	exon7			TTTGCAAGTAAGT	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.1653+1A>G	12.37:g.72936136A>G		26.0	0.0		35.0	9.0	NM_013381	A5PL19|Q6UWJ4	Silent	SNP	ENST00000261180.4	37	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	A	12.33	1.906348	0.33628	.	.	ENSG00000072657	ENST00000547300	.	.	.	5.25	4.09	0.47781	.	.	.	.	.	T	0.62368	0.2422	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59343	-0.7472	4	.	.	.	.	11.2667	0.49114	0.9276:0.0:0.0724:0.0	.	.	.	.	G	139	.	.	R	+	1	2	TRHDE	71222403	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	3.790000	0.55461	0.928000	0.37168	0.459000	0.35465	AGA	.		0.318	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381	Silent
TRPV4	59341	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	110230527	110230527	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr12:110230527C>A	ENST00000418703.2	-	10	1848	c.1754G>T	c.(1753-1755)gGc>gTc	p.G585V	TRPV4_ENST00000544971.1_Missense_Mutation_p.G478V|TRPV4_ENST00000541794.1_Missense_Mutation_p.G538V|TRPV4_ENST00000392719.2_Missense_Mutation_p.G538V|TRPV4_ENST00000261740.2_Missense_Mutation_p.G585V|TRPV4_ENST00000537083.1_Missense_Mutation_p.G525V|TRPV4_ENST00000536838.1_Missense_Mutation_p.G551V|TRPV4_ENST00000346520.2_Missense_Mutation_p.G525V	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	585					actin cytoskeleton reorganization (GO:0031532)|actin filament organization (GO:0007015)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cell death (GO:0008219)|cell volume homeostasis (GO:0006884)|cell-cell junction assembly (GO:0007043)|cellular calcium ion homeostasis (GO:0006874)|cellular hypotonic response (GO:0071476)|cellular response to heat (GO:0034605)|cellular response to osmotic stress (GO:0071470)|cortical microtubule organization (GO:0043622)|hyperosmotic salinity response (GO:0042538)|ion transmembrane transport (GO:0034220)|microtubule polymerization (GO:0046785)|negative regulation of neuron projection development (GO:0010977)|osmosensory signaling pathway (GO:0007231)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule depolymerization (GO:0031117)|regulation of response to osmotic stress (GO:0047484)|response to mechanical stimulus (GO:0009612)|transmembrane transport (GO:0055085)|vasopressin secretion (GO:0030103)	adherens junction (GO:0005912)|cell surface (GO:0009986)|cilium (GO:0005929)|cortical actin cytoskeleton (GO:0030864)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|beta-tubulin binding (GO:0048487)|calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)|cation channel activity (GO:0005261)|microtubule binding (GO:0008017)|osmosensor activity (GO:0005034)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						ATTCATCCAGCCCAGGACCAG	0.587																																					p.G585V		.											.	TRPV4	94	0			c.G1754T						.						89.0	70.0	77.0					12																	110230527		2203	4300	6503	SO:0001583	missense	59341	exon11			ATCCAGCCCAGGA	AF263523	CCDS9134.1, CCDS9135.1, CCDS53827.1, CCDS53828.1, CCDS53829.1	12q24.1	2014-09-17				ENSG00000111199		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18083	protein-coding gene	gene with protein product	"""osmosensitive transient receptor potential channel 4"""	605427				11025659, 11081638, 16382100, 20037587	Standard	NM_147204		Approved	OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C	uc001tpk.2	Q9HBA0		ENST00000418703.2:c.1754G>T	12.37:g.110230527C>A	ENSP00000406191:p.Gly585Val	123.0	0.0		155.0	17.0	NM_021625	B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Missense_Mutation	SNP	ENST00000418703.2	37	CCDS9134.1	.	.	.	.	.	.	.	.	.	.	C	30	5.055045	0.93793	.	.	ENSG00000111199	ENST00000418703;ENST00000261740;ENST00000392719;ENST00000346520;ENST00000544971;ENST00000537083;ENST00000541794;ENST00000536838	D;D;D;D;D;D;D;D	0.98437	-4.93;-4.93;-4.93;-4.93;-4.93;-4.93;-4.93;-4.93	6.06	6.06	0.98353	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99146	0.9705	M	0.89095	3.005	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;0.997;0.995	D	0.99406	1.0929	10	0.59425	D	0.04	-1.2413	19.6125	0.95613	0.0:1.0:0.0:0.0	.	525;585;478;538;551	Q9HBA0-2;Q9HBA0;Q9HBA0-6;Q9HBA0-4;Q9HBA0-5	.;TRPV4_HUMAN;.;.;.	V	585;585;538;525;478;525;538;551	ENSP00000406191:G585V;ENSP00000261740:G585V;ENSP00000376480:G538V;ENSP00000319003:G525V;ENSP00000443611:G478V;ENSP00000442738:G525V;ENSP00000442167:G538V;ENSP00000444336:G551V	ENSP00000261740:G585V	G	-	2	0	TRPV4	108714910	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.879000	0.98667	0.650000	0.86243	GGC	.		0.587	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403270.1	NM_021625	
TSSC4	10078	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	2424378	2424378	+	Missense_Mutation	SNP	A	A	C			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr11:2424378A>C	ENST00000333256.6	+	3	958	c.515A>C	c.(514-516)gAg>gCg	p.E172A	TSSC4_ENST00000380996.5_Missense_Mutation_p.E108A|TSSC4_ENST00000451491.2_Missense_Mutation_p.E172A|TSSC4_ENST00000380992.1_Splice_Site_p.E108A|TSSC4_ENST00000467308.1_3'UTR|AC124057.5_ENST00000433035.1_RNA			Q9Y5U2	TSSC4_HUMAN	tumor suppressing subtransferable candidate 4	172										endometrium(3)|large_intestine(1)|lung(4)	8		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.00145)|LUSC - Lung squamous cell carcinoma(625;0.19)		GATGTGACCGAGGTCAGCGAG	0.667																																					p.E172A		.											.	TSSC4	90	0			c.A515C						.						28.0	28.0	28.0					11																	2424378		2201	4298	6499	SO:0001583	missense	10078	exon2			TGACCGAGGTCAG	AF125568	CCDS7735.1, CCDS73241.1	11p15.5	2008-02-05			ENSG00000184281	ENSG00000184281			12386	protein-coding gene	gene with protein product		603852				10072438	Standard	XM_005252722		Approved		uc001lwl.3	Q9Y5U2	OTTHUMG00000009895	ENST00000333256.6:c.515A>C	11.37:g.2424378A>C	ENSP00000331087:p.Glu172Ala	99.0	0.0		90.0	9.0	NM_005706	C9JS66|Q86VL2|Q9BRS6	Missense_Mutation	SNP	ENST00000333256.6	37	CCDS7735.1	.	.	.	.	.	.	.	.	.	.	A	16.45	3.126501	0.56721	.	.	ENSG00000184281	ENST00000380996;ENST00000333256;ENST00000380992;ENST00000437110;ENST00000440813;ENST00000496468;ENST00000451491	T;T;T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69;0.69;0.69	3.52	3.52	0.40303	.	0.144148	0.44902	U	0.000419	T	0.66277	0.2773	M	0.77103	2.36	0.50813	D	0.999895	D;D	0.89917	1.0;1.0	D;D	0.74674	0.984;0.984	T	0.70988	-0.4722	10	0.72032	D	0.01	-19.9944	11.6947	0.51536	1.0:0.0:0.0:0.0	.	172;108	Q9Y5U2;Q9Y5U2-2	TSSC4_HUMAN;.	A	108;172;108;172;108;172;172	ENSP00000370384:E108A;ENSP00000331087:E172A;ENSP00000370380:E108A;ENSP00000396925:E172A;ENSP00000416937:E108A;ENSP00000435013:E172A;ENSP00000411224:E172A	ENSP00000331087:E172A	E	+	2	0	TSSC4	2380954	1.000000	0.71417	0.717000	0.30585	0.362000	0.29581	4.604000	0.61112	1.618000	0.50286	0.379000	0.24179	GAG	.		0.667	TSSC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027369.3	NM_005706	
TTN	7273	broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	179616369	179616369	+	Intron	SNP	T	T	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr2:179616369T>A	ENST00000591111.1	-	45	10585				TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.E3586D|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGCAGACCCTTCACTATTAA	0.378																																					p.E3586D		.											.	TTN	636	0			c.A10758T						.						104.0	109.0	107.0					2																	179616369		2202	4299	6501	SO:0001627	intron_variant	7273	exon46			AGACCCTTCACTA	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.10360+1481A>T	2.37:g.179616369T>A		102.0	1.0		123.0	33.0	NM_133379	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	T	12.50	1.957958	0.34565	.	.	ENSG00000155657	ENST00000360870	T	0.67171	-0.25	5.76	2.21	0.28008	.	.	.	.	.	T	0.74261	0.3693	M	0.63428	1.95	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.69339	-0.5171	9	0.36615	T	0.2	.	6.9423	0.24500	0.0:0.47:0.0:0.53	.	3586	Q8WZ42-6	.	D	3586	ENSP00000354117:E3586D	ENSP00000354117:E3586D	E	-	3	2	TTN	179324614	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	0.995000	0.29706	0.472000	0.27344	0.533000	0.62120	GAA	.		0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	179494968	179494968	+	Splice_Site	SNP	G	G	A	rs192766485	byFrequency	TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr2:179494968G>A	ENST00000591111.1	-	189	39582	c.39358C>T	c.(39358-39360)Cca>Tca	p.P13120S	TTN_ENST00000342175.6_Splice_Site_p.P5888S|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Splice_Site_p.P14761S|TTN_ENST00000342992.6_Splice_Site_p.P12193S|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Splice_Site_p.P5821S|TTN_ENST00000460472.2_Splice_Site_p.P5696S|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13120	Ig-like 87.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAATACTTACGCTTAACTCGG	0.368													G|||	2	0.000399361	0.0	0.0014	5008	,	,		16183	0.0		0.001	False		,,,				2504	0.0				p.P14761S		.											.	TTN	636	0			c.C44281T						.	G	SER/PRO,SER/PRO,SER/PRO,SER/PRO	0,3640		0,0,1820	81.0	82.0	81.0		17086,36577,17461,17662	6.0	1.0	2		81	5,8161		0,5,4078	yes	missense-near-splice,missense-near-splice,missense-near-splice,missense-near-splice	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	74,74,74,74	0,5,5898	AA,AG,GG		0.0612,0.0,0.0424	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	5696/26927,12193/33424,5821/27052,5888/27119	179494968	5,11801	1820	4083	5903	SO:0001630	splice_region_variant	7273	exon239			ACTTACGCTTAAC	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.39358+1C>T	2.37:g.179494968G>A		55.0	0.0		60.0	11.0	NM_001267550	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	G	15.62	2.888175	0.52014	0.0	6.12E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.63096	-0.02;0.2;0.18;0.17	6.04	6.04	0.98038	Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.52948	0.1766	L	0.57536	1.79	0.46499	D	0.999077	P;P;P;P	0.44659	0.84;0.84;0.84;0.84	B;B;B;B	0.28385	0.089;0.089;0.089;0.089	T	0.57802	-0.7748	8	.	.	.	.	16.0072	0.80372	0.0:0.1336:0.8664:0.0	.	5696;5821;5888;13120	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	12193;5696;5888;5821;5696	ENSP00000343764:P12193S;ENSP00000434586:P5696S;ENSP00000340554:P5888S;ENSP00000352154:P5821S	.	P	-	1	0	TTN	179203213	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	7.060000	0.76692	2.873000	0.98535	0.563000	0.77884	CCA	G|0.999;A|0.001		0.368	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	Missense_Mutation
TTN	7273	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	179569674	179569674	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr2:179569674C>A	ENST00000591111.1	-	102	28897	c.28673G>T	c.(28672-28674)aGg>aTg	p.R9558M	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R9875M|TTN_ENST00000342992.6_Missense_Mutation_p.R8631M|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13643					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTCTCTGACCTCTCTATTTC	0.338																																					p.R9875M		.											.	TTN	636	0			c.G29624T						.						130.0	128.0	128.0					2																	179569674		1821	4090	5911	SO:0001583	missense	7273	exon104			TCTGACCTCTCTA	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.28673G>T	2.37:g.179569674C>A	ENSP00000465570:p.Arg9558Met	183.0	0.0		258.0	34.0	NM_001267550	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	8.638	0.895281	0.17613	.	.	ENSG00000155657	ENST00000342992	T	0.62941	-0.01	5.99	4.85	0.62838	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.46852	0.1414	N	0.14661	0.345	0.80722	D	1	B	0.32425	0.371	B	0.36885	0.235	T	0.49969	-0.8882	9	0.87932	D	0	.	9.4026	0.38442	0.0:0.1451:0.0:0.8549	.	9558	Q8WZ42	TITIN_HUMAN	M	8631	ENSP00000343764:R8631M	ENSP00000343764:R8631M	R	-	2	0	TTN	179277919	1.000000	0.71417	1.000000	0.80357	0.591000	0.36615	0.957000	0.29215	1.102000	0.41551	-0.302000	0.09304	AGG	.		0.338	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	179648982	179648982	+	Missense_Mutation	SNP	C	C	T	rs375659512		TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr2:179648982C>T	ENST00000591111.1	-	16	2814	c.2590G>A	c.(2590-2592)Gtg>Atg	p.V864M	TTN_ENST00000342175.6_Missense_Mutation_p.V818M|TTN_ENST00000589042.1_Missense_Mutation_p.V864M|TTN_ENST00000342992.6_Missense_Mutation_p.V864M|TTN_ENST00000359218.5_Missense_Mutation_p.V818M|TTN_ENST00000460472.2_Missense_Mutation_p.V818M|TTN_ENST00000360870.5_Missense_Mutation_p.V864M			Q8WZ42	TITIN_HUMAN	titin	33688					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGGGCTTCACAGTAGGAGCC	0.502																																					p.V864M		.											.	TTN	636	0			c.G2590A						.	C	MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL	0,4406		0,0,2203	99.0	88.0	92.0		2452,2590,2590,2452,2452	5.5	1.0	2		92	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133379.3,NM_133432.3,NM_133437.3	21,21,21,21,21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	818/26927,864/33424,864/5605,818/27052,818/27119	179648982	1,13005	2203	4300	6503	SO:0001583	missense	7273	exon16			GCTTCACAGTAGG	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.2590G>A	2.37:g.179648982C>T	ENSP00000465570:p.Val864Met	202.0	2.0		242.0	68.0	NM_001267550	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	11.70	1.717417	0.30413	0.0	1.16E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.63913	-0.07;0.17;0.16;0.13;0.24	5.52	5.52	0.82312	Ribonuclease H-like (1);	.	.	.	.	T	0.63510	0.2517	L	0.27053	0.805	0.20873	N	0.99984	P;P;P;P;D	0.59767	0.868;0.868;0.868;0.868;0.986	B;B;B;B;P	0.58454	0.174;0.174;0.174;0.23;0.839	T	0.57271	-0.7840	9	0.87932	D	0	.	10.5716	0.45204	0.2481:0.6275:0.1243:0.0	.	818;818;818;864;864	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	M	864;818;818;818;818;864	ENSP00000343764:V864M;ENSP00000434586:V818M;ENSP00000340554:V818M;ENSP00000352154:V818M;ENSP00000354117:V864M	ENSP00000340554:V818M	V	-	1	0	TTN	179357227	0.917000	0.31117	0.998000	0.56505	0.965000	0.64279	1.622000	0.36997	2.767000	0.95098	0.655000	0.94253	GTG	.		0.502	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TUBA1A	7846	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	49578875	49578875	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr12:49578875A>G	ENST00000295766.5	-	4	1753	c.1274T>C	c.(1273-1275)aTg>aCg	p.M425T	TUBA1A_ENST00000550767.1_Missense_Mutation_p.M390T|TUBA1A_ENST00000301071.7_Missense_Mutation_p.M425T	NM_001270399.1	NP_001257328.1	Q71U36	TBA1A_HUMAN	tubulin, alpha 1a	425					'de novo' posttranslational protein folding (GO:0051084)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|cytoskeleton-dependent intracellular transport (GO:0030705)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasmic microtubule (GO:0005881)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			stomach(1)|upper_aerodigestive_tract(1)	2					Albendazole(DB00518)|Mebendazole(DB00643)|Vinblastine(DB00570)	AAGGGCAGCCATGTCCTCACG	0.493																																					p.M425T	Pancreas(111;782 2307 24613 44561)|NSCLC(165;1667 2752 9496 39006)|Ovarian(19;24 776 10875 37451)	.											.	TUBA1A	90	0			c.T1274C						.						167.0	163.0	164.0					12																	49578875		2203	4300	6503	SO:0001583	missense	7846	exon4			GCAGCCATGTCCT	AF141347	CCDS8781.1, CCDS58226.1, CCDS58227.1	12q13.12	2007-02-07						"""Tubulins"""	20766	protein-coding gene	gene with protein product	"""tubulin, alpha, brain-specific"""	602529				11504633, 3839072	Standard	NM_006009		Approved	TUBA3, B-ALPHA-1, FLJ25113	uc010smg.1	Q71U36	OTTHUMG00000169511	ENST00000295766.5:c.1274T>C	12.37:g.49578875A>G	ENSP00000439020:p.Met425Thr	348.0	0.0		336.0	90.0	NM_001270399	A8K0B8|G3V1U9|P04687|P05209	Missense_Mutation	SNP	ENST00000295766.5	37	CCDS58227.1	.	.	.	.	.	.	.	.	.	.	a	9.610	1.131008	0.21041	.	.	ENSG00000167552	ENST00000301071;ENST00000552597;ENST00000548405;ENST00000295766;ENST00000550767	D;D;D	0.83914	-1.78;-1.78;-1.78	5.51	5.51	0.81932	Tubulin, C-terminal (1);Tubulin/FtsZ, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.83147	0.5191	M	0.76433	2.335	0.80722	D	1	B	0.02656	0.0	B	0.15870	0.014	T	0.81116	-0.1079	10	0.87932	D	0	.	14.6291	0.68643	1.0:0.0:0.0:0.0	.	425	Q71U36	TBA1A_HUMAN	T	425;156;272;425;390	ENSP00000301071:M425T;ENSP00000439020:M425T;ENSP00000446637:M390T	ENSP00000439020:M425T	M	-	2	0	TUBA1A	47865142	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.879000	0.92398	2.088000	0.63022	0.533000	0.62120	ATG	.		0.493	TUBA1A-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000404547.2	NM_006009	
TUBA3C	7278	broad.mit.edu;ucsc.edu;bcgsc.ca	37	13	19753559	19753559	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr13:19753559T>C	ENST00000400113.3	-	2	252	c.148A>G	c.(148-150)Aac>Gac	p.N50D	RP11-408E5.4_ENST00000382988.2_5'Flank	NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	50					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		AAGAACGTGTTGAAGGAGTCG	0.567																																					p.N50D		.											.	TUBA3C	95	0			c.A148G						.						206.0	168.0	181.0					13																	19753559		2203	4300	6503	SO:0001583	missense	7278	exon2			ACGTGTTGAAGGA	AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"""Tubulins"""	12408	protein-coding gene	gene with protein product		602528	"""tubulin, alpha 2"""	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.148A>G	13.37:g.19753559T>C	ENSP00000382982:p.Asn50Asp	368.0	1.0		292.0	75.0	NM_006001	A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000400113.3	37	CCDS9284.1	.	.	.	.	.	.	.	.	.	.	t	7.630	0.678590	0.14841	.	.	ENSG00000198033	ENST00000400113;ENST00000360801	T	0.69040	-0.37	1.37	1.37	0.22104	.	0.000000	0.50627	U	0.000101	T	0.66376	0.2783	.	.	.	0.33485	D	0.587966	.	.	.	.	.	.	T	0.73649	-0.3916	7	0.87932	D	0	.	6.8515	0.24018	0.0:0.0:0.0:1.0	.	.	.	.	D	50	ENSP00000382982:N50D	ENSP00000354037:N50D	N	-	1	0	TUBA3C	18651559	1.000000	0.71417	1.000000	0.80357	0.609000	0.37215	3.903000	0.56318	0.885000	0.36088	0.163000	0.16589	AAC	.		0.567	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001	
TUBA4A	7277	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	220116022	220116022	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr2:220116022C>G	ENST00000248437.4	-	4	572	c.399G>C	c.(397-399)caG>caC	p.Q133H	TUBA4B_ENST00000490341.1_RNA|TUBA4A_ENST00000498660.1_5'UTR|TUBA4A_ENST00000392088.2_Missense_Mutation_p.Q118H	NM_006000.2	NP_005991.1	P68366	TBA4A_HUMAN	tubulin, alpha 4a	133					'de novo' posttranslational protein folding (GO:0051084)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Cabazitaxel(DB06772)|Podofilox(DB01179)|Vincristine(DB00541)	CCAGGAAGCCCTGAAGTCCTG	0.547																																					p.Q133H		.											.	TUBA4A	93	0			c.G399C						.						45.0	49.0	47.0					2																	220116022		2189	4299	6488	SO:0001583	missense	7277	exon4			GAAGCCCTGAAGT	AK054731	CCDS2438.1, CCDS63131.1	2q36.1	2012-10-02	2007-02-12	2007-02-12	ENSG00000127824	ENSG00000127824		"""Tubulins"""	12407	protein-coding gene	gene with protein product		191110	"""tubulin, alpha 1 (testis specific)"", ""tubulin, alpha 1"""	TUBA1		3785200	Standard	NM_006000		Approved	FLJ30169, H2-ALPHA	uc002vkt.1	P68366	OTTHUMG00000133126	ENST00000248437.4:c.399G>C	2.37:g.220116022C>G	ENSP00000248437:p.Gln133His	84.0	0.0		111.0	10.0	NM_006000	A8MUB1|B3KNQ6|P05215	Missense_Mutation	SNP	ENST00000248437.4	37	CCDS2438.1	.	.	.	.	.	.	.	.	.	.	C	11.55	1.672479	0.29693	.	.	ENSG00000127824	ENST00000248437;ENST00000392088;ENST00000427737;ENST00000456818;ENST00000447205	T;T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68;-0.68	5.06	3.11	0.35812	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.85682	D	0.000000	D	0.87374	0.6161	H	0.96430	3.82	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89404	0.3698	10	0.87932	D	0	.	10.3719	0.44060	0.0:0.772:0.0:0.228	.	133	P68366	TBA4A_HUMAN	H	133;118;118;156;118	ENSP00000248437:Q133H;ENSP00000375938:Q118H;ENSP00000408194:Q118H;ENSP00000416992:Q156H;ENSP00000396061:Q118H	ENSP00000248437:Q133H	Q	-	3	2	TUBA4A	219824266	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.744000	0.26245	1.375000	0.46248	0.655000	0.94253	CAG	.		0.547	TUBA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256816.3	NM_006000	
UBA1	7317	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	47062208	47062208	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chrX:47062208A>G	ENST00000335972.6	+	11	1411	c.1228A>G	c.(1228-1230)Atg>Gtg	p.M410V	UBA1_ENST00000377351.4_Missense_Mutation_p.M410V|INE1_ENST00000456273.1_RNA|UBA1_ENST00000490869.1_3'UTR	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	410	2 approximate repeats.				cell death (GO:0008219)|cellular response to DNA damage stimulus (GO:0006974)|modification-dependent protein catabolic process (GO:0019941)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CCAGGAAGTCATGAAGGTCAG	0.592																																					p.M410V		.											.	UBA1	227	0			c.A1228G						.						25.0	23.0	23.0					X																	47062208		2203	4298	6501	SO:0001583	missense	7317	exon11			GAAGTCATGAAGG	AF258566	CCDS14275.1	Xp11.23	2014-08-13	2007-11-30	2007-11-30	ENSG00000130985	ENSG00000130985	6.3.2.19	"""Ubiquitin-like modifier activating enzymes"""	12469	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog (yeast)"", ""POC20 centriolar protein homolog (Chlamydomonas)"""	314370	"""ubiquitin-activating enzyme E1 (A1S9T and BN75 temperature sensitivity complementing)"", ""ubiquitin-activating enzyme E1"""	A1S9T, GXP1, UBE1		1845793	Standard	NM_153280		Approved	UBE1X, POC20, CFAP124	uc004dhj.4	P22314	OTTHUMG00000021436	ENST00000335972.6:c.1228A>G	X.37:g.47062208A>G	ENSP00000338413:p.Met410Val	84.0	0.0		102.0	17.0	NM_153280	Q5JRR8|Q96E13	Missense_Mutation	SNP	ENST00000335972.6	37	CCDS14275.1	.	.	.	.	.	.	.	.	.	.	A	11.16	1.556650	0.27827	.	.	ENSG00000130985	ENST00000377351;ENST00000335972	T;T	0.60040	0.22;0.22	4.75	4.75	0.60458	Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.41534	0.1163	N	0.17278	0.47	0.80722	D	1	P	0.36495	0.556	B	0.37731	0.257	T	0.32587	-0.9901	10	0.26408	T	0.33	-28.6326	12.5479	0.56210	1.0:0.0:0.0:0.0	.	410	P22314	UBA1_HUMAN	V	410	ENSP00000366568:M410V;ENSP00000338413:M410V	ENSP00000338413:M410V	M	+	1	0	UBA1	46947152	0.998000	0.40836	1.000000	0.80357	0.967000	0.64934	3.453000	0.52978	1.877000	0.54381	0.427000	0.28365	ATG	.		0.592	UBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056389.1	NM_003334	
UBE4A	9354	broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	118263565	118263565	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr11:118263565C>T	ENST00000431736.2	+	19	3122	c.3050C>T	c.(3049-3051)tCc>tTc	p.S1017F	UBE4A_ENST00000545354.1_Missense_Mutation_p.S482F|UBE4A_ENST00000252108.3_Missense_Mutation_p.S1010F					ubiquitination factor E4A											autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		CTGCCATCTTCCAGAGTCACT	0.458																																					p.S1017F		.											.	UBE4A	229	0			c.C3050T						.						180.0	164.0	169.0					11																	118263565		2200	4296	6496	SO:0001583	missense	9354	exon19			CATCTTCCAGAGT	D50916	CCDS8396.1, CCDS55790.1	11q23.3	2013-01-28	2011-05-19					"""U-box domain containing"""	12499	protein-coding gene	gene with protein product		603753	"""ubiquitination factor E4A (homologous to yeast UFD2)"", ""ubiquitination factor E4A (UFD2 homolog, yeast)"""			10089879	Standard	NM_004788		Approved	UBOX2, UFD2, KIAA0126, E4	uc001psv.3	Q14139	OTTHUMG00000168100	ENST00000431736.2:c.3050C>T	11.37:g.118263565C>T	ENSP00000387362:p.Ser1017Phe	146.0	1.0		128.0	74.0	NM_004788		Missense_Mutation	SNP	ENST00000431736.2	37	CCDS8396.1	.	.	.	.	.	.	.	.	.	.	C	34	5.360047	0.95877	.	.	ENSG00000110344	ENST00000252108;ENST00000431736;ENST00000545354	T;T	0.59638	0.26;0.25	5.92	5.92	0.95590	Zinc finger, RING/FYVE/PHD-type (1);U box domain (2);	0.000000	0.85682	D	0.000000	D	0.84047	0.5386	H	0.95004	3.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.87420	0.2381	10	0.87932	D	0	-14.9028	20.3735	0.98896	0.0:1.0:0.0:0.0	.	1010;1017	Q14139;Q14139-2	UBE4A_HUMAN;.	F	1010;1017;482	ENSP00000252108:S1010F;ENSP00000387362:S1017F	ENSP00000252108:S1010F	S	+	2	0	UBE4A	117768775	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.818000	0.86416	2.820000	0.97059	0.650000	0.86243	TCC	.		0.458	UBE4A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398143.1	NM_004788	
UBASH3B	84959	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	122659819	122659819	+	Silent	SNP	C	C	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr11:122659819C>T	ENST00000284273.5	+	6	1158	c.783C>T	c.(781-783)gtC>gtT	p.V261V		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	261	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein kinase activity (GO:0006469)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		CATTACAGGTCATCTACCCCT	0.532																																					p.V261V		.											.	UBASH3B	68	0			c.C783T						.						227.0	209.0	215.0					11																	122659819		2202	4299	6501	SO:0001819	synonymous_variant	84959	exon6			ACAGGTCATCTAC	AB075839	CCDS31694.1	11q24.1	2010-04-28	2010-04-28		ENSG00000154127	ENSG00000154127			29884	protein-coding gene	gene with protein product	"""SH3 domain-containing 70 kDa protein, suppressor of T-cell receptor signaling 1, nm23-phosphorylated unknown substrate"""	609201				11853319, 12370296	Standard	NM_032873		Approved	KIAA1959, STS-1	uc001pyi.4	Q8TF42	OTTHUMG00000166025	ENST00000284273.5:c.783C>T	11.37:g.122659819C>T		145.0	1.0		130.0	56.0	NM_032873	Q53GT5|Q53GT8|Q8NBV7|Q96IG9|Q96NZ2	Silent	SNP	ENST00000284273.5	37	CCDS31694.1																																																																																			.		0.532	UBASH3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387499.1	NM_032873	
UFL1	23376	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	96973201	96973201	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	A	A	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr6:96973201A>T	ENST00000369278.4	+	4	347	c.281A>T	c.(280-282)gAa>gTa	p.E94V		NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1	94	Required for E3 UFM1-protein ligase activity.				negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein ufmylation (GO:0071569)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	UFM1 conjugating enzyme activity (GO:0071568)										ATTCATATTGAAAATAGAATT	0.274																																					p.E94V		.											.	.	.	0			c.A281T						.						87.0	107.0	100.0					6																	96973201		2202	4284	6486	SO:0001583	missense	23376	exon4			ATATTGAAAATAG	BC036379	CCDS5034.1	6q16.3	2011-08-18	2011-08-18	2011-08-18	ENSG00000014123	ENSG00000014123			23039	protein-coding gene	gene with protein product	"""novel LZAP-binding protein"", ""Regulator of CDK5RAP3 and DDRGK1"""	613372	"""KIAA0776"""	KIAA0776		20018847, 20164180, 20228063, 20531390	Standard	NM_015323		Approved	NLBP, Maxer, RCAD	uc003por.3	O94874	OTTHUMG00000015238	ENST00000369278.4:c.281A>T	6.37:g.96973201A>T	ENSP00000358283:p.Glu94Val	176.0	1.0		175.0	41.0	NM_015323	A0PJ53|B4DJ57|C0H5X5|Q8N765|Q9NTQ0	Missense_Mutation	SNP	ENST00000369278.4	37	CCDS5034.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.608968	0.87258	.	.	ENSG00000014123	ENST00000369278	T	0.55760	0.5	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.72195	0.3430	M	0.88906	2.99	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.79112	-0.1937	10	0.87932	D	0	-25.4732	15.0391	0.71774	1.0:0.0:0.0:0.0	.	94	O94874	UFL1_HUMAN	V	94	ENSP00000358283:E94V	ENSP00000358283:E94V	E	+	2	0	KIAA0776	97079922	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.571000	0.90752	2.151000	0.67156	0.528000	0.53228	GAA	.		0.274	UFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041557.1	NM_015323	
UNC80	285175	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	210786230	210786230	+	Missense_Mutation	SNP	T	T	G			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr2:210786230T>G	ENST00000439458.1	+	33	5232	c.5152T>G	c.(5152-5154)Ttt>Gtt	p.F1718V	UNC80_ENST00000272845.6_Missense_Mutation_p.F1713V	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	1718					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						ACAGAAATCCTTTTCAGCCCG	0.448																																					p.F1718V		.											.	UNC80	90	0			c.T5152G						.						77.0	66.0	69.0					2																	210786230		692	1591	2283	SO:0001583	missense	285175	exon33			AAATCCTTTTCAG	AK090815	CCDS2387.1, CCDS46504.1, CCDS2387.2	2q35	2009-08-17	2009-08-17	2009-08-17	ENSG00000144406	ENSG00000144406			26582	protein-coding gene	gene with protein product		612636	"""chromosome 2 open reading frame 21"""	C2orf21		19092807	Standard	NM_032504		Approved	FLJ33496, KIAA1843, UNC-80	uc010zjc.1	Q8N2C7	OTTHUMG00000132963	ENST00000439458.1:c.5152T>G	2.37:g.210786230T>G	ENSP00000391088:p.Phe1718Val	110.0	0.0		146.0	17.0	NM_032504	B2RN50|B4DQY9|B4DZB3|C4IXS8|C9J1U3|Q96JI4|Q96SS0	Missense_Mutation	SNP	ENST00000439458.1	37	CCDS46504.1	.	.	.	.	.	.	.	.	.	.	T	26.7	4.758182	0.89843	.	.	ENSG00000144406	ENST00000439458;ENST00000272845	T;T	0.31510	1.49;1.49	5.67	5.67	0.87782	.	0.120542	0.56097	D	0.000032	T	0.42314	0.1197	N	0.24115	0.695	0.80722	D	1	D	0.57899	0.981	D	0.69142	0.962	T	0.39800	-0.9596	10	0.66056	D	0.02	-17.8137	16.2002	0.82067	0.0:0.0:0.0:1.0	.	1718	Q8N2C7	UNC80_HUMAN	V	1718;1713	ENSP00000391088:F1718V;ENSP00000272845:F1713V	ENSP00000272845:F1713V	F	+	1	0	UNC80	210494475	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.299000	0.78831	2.285000	0.76669	0.528000	0.53228	TTT	.		0.448	UNC80-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_182587	
USH2A	7399	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	216172333	216172333	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr1:216172333G>T	ENST00000307340.3	-	34	6939	c.6553C>A	c.(6553-6555)Cat>Aat	p.H2185N	USH2A_ENST00000366943.2_Missense_Mutation_p.H2185N	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2185	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTAAAATCATGTGTATGGTTT	0.323										HNSCC(13;0.011)																											p.H2185N		.											.	USH2A	115	0			c.C6553A						.						146.0	140.0	142.0					1																	216172333		2203	4300	6503	SO:0001583	missense	7399	exon34			AATCATGTGTATG	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.6553C>A	1.37:g.216172333G>T	ENSP00000305941:p.His2185Asn	115.0	0.0		227.0	22.0	NM_206933	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	0.400	-0.918967	0.02396	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.52526	0.66;0.66	5.56	1.56	0.23342	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.379718	0.19202	U	0.120144	T	0.40979	0.1139	M	0.62723	1.935	0.09310	N	1	B	0.10296	0.003	B	0.11329	0.006	T	0.32851	-0.9891	10	0.18276	T	0.48	.	10.4517	0.44526	0.1224:0.3076:0.57:0.0	.	2185	O75445	USH2A_HUMAN	N	2185	ENSP00000305941:H2185N;ENSP00000355910:H2185N	ENSP00000305941:H2185N	H	-	1	0	USH2A	214238956	0.004000	0.15560	0.000000	0.03702	0.178000	0.23041	1.456000	0.35201	-0.172000	0.10779	-1.273000	0.01405	CAT	.		0.323	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	
USP20	10868	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	9	132632035	132632035	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr9:132632035T>C	ENST00000315480.4	+	14	1635	c.1477T>C	c.(1477-1479)Tac>Cac	p.Y493H	USP20_ENST00000358355.1_Missense_Mutation_p.Y493H|USP20_ENST00000372429.3_Missense_Mutation_p.Y493H			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	493	USP.				endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				TTCAGCCATCTACCAGAATGT	0.597																																					p.Y493H		.											.	USP20	658	0			c.T1477C						.						69.0	71.0	71.0					9																	132632035		1949	4135	6084	SO:0001583	missense	10868	exon14			GCCATCTACCAGA	AB023220	CCDS43892.1	9q34.2	2014-07-15	2005-08-08		ENSG00000136878	ENSG00000136878		"""Ubiquitin-specific peptidases"""	12619	protein-coding gene	gene with protein product		615143	"""ubiquitin specific protease 20"""			12838346	Standard	NM_006676		Approved	KIAA1003	uc004byr.3	Q9Y2K6	OTTHUMG00000020793	ENST00000315480.4:c.1477T>C	9.37:g.132632035T>C	ENSP00000313811:p.Tyr493His	260.0	0.0		176.0	8.0	NM_001008563	Q541F1|Q8IXQ1|Q96LG5|Q9UQN8|Q9UQP0	Missense_Mutation	SNP	ENST00000315480.4	37	CCDS43892.1	.	.	.	.	.	.	.	.	.	.	T	4.693	0.128839	0.08981	.	.	ENSG00000136878	ENST00000372429;ENST00000315480;ENST00000358355	T;T;T	0.02863	4.13;4.13;4.13	4.84	4.84	0.62591	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.394499	0.28665	N	0.014553	T	0.00906	0.0030	N	0.00599	-1.345	0.46798	D	0.999202	B	0.06786	0.001	B	0.06405	0.002	T	0.48305	-0.9047	10	0.07175	T	0.84	.	8.6795	0.34201	0.0:0.0853:0.0:0.9147	.	493	Q9Y2K6	UBP20_HUMAN	H	493	ENSP00000361506:Y493H;ENSP00000313811:Y493H;ENSP00000351122:Y493H	ENSP00000313811:Y493H	Y	+	1	0	USP20	131671856	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	5.358000	0.66064	2.165000	0.68154	0.533000	0.62120	TAC	.		0.597	USP20-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054604.2		
USP53	54532	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	120192951	120192951	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr4:120192951A>T	ENST00000274030.6	+	16	3115	c.1936A>T	c.(1936-1938)Atg>Ttg	p.M646L	USP53_ENST00000450251.1_Missense_Mutation_p.M646L	NM_019050.2	NP_061923.2			ubiquitin specific peptidase 53											breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						TGAAGATGAAATGAAGCAGGA	0.363																																					p.M646L		.											.	USP53	660	0			c.A1936T						.						117.0	105.0	109.0					4																	120192951		1838	4092	5930	SO:0001583	missense	54532	exon15			GATGAAATGAAGC	BC017382	CCDS43265.1	4q26	2010-05-12	2005-08-08		ENSG00000145390	ENSG00000145390		"""Ubiquitin-specific peptidases"""	29255	protein-coding gene	gene with protein product			"""ubiquitin specific protease 53"""			10718198, 14715245	Standard	NM_019050		Approved	KIAA1350	uc003ics.4	Q70EK8	OTTHUMG00000161331	ENST00000274030.6:c.1936A>T	4.37:g.120192951A>T	ENSP00000274030:p.Met646Leu	132.0	0.0		101.0	16.0	NM_019050		Missense_Mutation	SNP	ENST00000274030.6	37	CCDS43265.1	.	.	.	.	.	.	.	.	.	.	A	7.268	0.606516	0.14002	.	.	ENSG00000145390	ENST00000274030;ENST00000450251	T;T	0.40225	1.04;1.04	5.58	-3.41	0.04839	.	1.734410	0.02229	N	0.064775	T	0.25082	0.0609	N	0.22421	0.69	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.11916	-1.0568	10	0.11485	T	0.65	1.203	6.2006	0.20573	0.3925:0.2442:0.3634:0.0	.	646	Q70EK8	UBP53_HUMAN	L	646	ENSP00000274030:M646L;ENSP00000409906:M646L	ENSP00000274030:M646L	M	+	1	0	USP53	120412399	0.434000	0.25570	0.486000	0.27416	0.980000	0.70556	0.359000	0.20233	-0.191000	0.10448	-0.376000	0.06991	ATG	.		0.363	USP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364564.2	XM_052597	
VAT1L	57687	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	77859180	77859180	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr16:77859180C>T	ENST00000302536.2	+	3	554	c.401C>T	c.(400-402)gCc>gTc	p.A134V		NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	134							oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						AATTACAATGCCTGGGCAGAG	0.522																																					p.A134V		.											.	VAT1L	90	0			c.C401T						.						137.0	120.0	125.0					16																	77859180		2198	4300	6498	SO:0001583	missense	57687	exon3			ACAATGCCTGGGC	AB046796	CCDS32492.1	16q23.1	2014-09-09	2013-08-23		ENSG00000171724	ENSG00000171724			29315	protein-coding gene	gene with protein product			"""vesicle amine transport protein 1 homolog (T. californica)-like"""			10997877	Standard	NM_020927		Approved	KIAA1576	uc002ffg.1	Q9HCJ6	OTTHUMG00000176845	ENST00000302536.2:c.401C>T	16.37:g.77859180C>T	ENSP00000303129:p.Ala134Val	292.0	0.0		250.0	43.0	NM_020927	Q8IYW8	Missense_Mutation	SNP	ENST00000302536.2	37	CCDS32492.1	.	.	.	.	.	.	.	.	.	.	C	33	5.280932	0.95489	.	.	ENSG00000171724	ENST00000302536	T	0.46063	0.88	6.03	6.03	0.97812	GroES-like (1);	0.000000	0.85682	D	0.000000	T	0.63283	0.2498	L	0.54908	1.71	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.60219	-0.7306	10	0.56958	D	0.05	-9.4193	20.1519	0.98089	0.0:1.0:0.0:0.0	.	134	Q9HCJ6	VAT1L_HUMAN	V	134	ENSP00000303129:A134V	ENSP00000303129:A134V	A	+	2	0	VAT1L	76416681	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.861000	0.98227	0.655000	0.94253	GCC	.		0.522	VAT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434010.1	NM_020927	
VPS13C	54832	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	62219327	62219327	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr15:62219327G>A	ENST00000261517.5	-	52	6552	c.6479C>T	c.(6478-6480)cCt>cTt	p.P2160L	VPS13C_ENST00000395896.4_Missense_Mutation_p.P2160L|VPS13C_ENST00000395898.3_Missense_Mutation_p.P2117L|VPS13C_ENST00000249837.3_Missense_Mutation_p.P2117L	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TCTGAGAAAAGGGCAAGCGAG	0.428																																					p.P2160L		.											.	VPS13C	92	0			c.C6479T						.						123.0	120.0	121.0					15																	62219327		2203	4300	6503	SO:0001583	missense	54832	exon52			AGAAAAGGGCAAG	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.6479C>T	15.37:g.62219327G>A	ENSP00000261517:p.Pro2160Leu	142.0	0.0		117.0	17.0	NM_020821		Missense_Mutation	SNP	ENST00000261517.5	37	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	G	32	5.128849	0.94473	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.61980	0.06;0.06;0.06	5.41	5.41	0.78517	.	0.179966	0.49916	D	0.000129	T	0.74129	0.3676	M	0.76574	2.34	0.80722	D	1	B;P;B;P	0.47191	0.112;0.891;0.38;0.825	B;P;B;P	0.52159	0.197;0.691;0.197;0.493	T	0.73260	-0.4039	10	0.39692	T	0.17	.	19.5612	0.95373	0.0:0.0:1.0:0.0	.	2117;2160;2117;2160	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	L	2117;2160;2160;2160	ENSP00000249837:P2117L;ENSP00000261517:P2160L;ENSP00000379233:P2160L	ENSP00000249837:P2117L	P	-	2	0	VPS13C	60006619	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.173000	0.94815	2.687000	0.91594	0.655000	0.94253	CCT	.		0.428	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684	
VPS45	11311	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	1	150054035	150054035	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr1:150054035A>G	ENST00000369130.3	+	9	1438	c.892A>G	c.(892-894)Aaa>Gaa	p.K298E	VPS45_ENST00000535106.1_Missense_Mutation_p.K229E|VPS45_ENST00000369128.5_Missense_Mutation_p.K193E	NM_001279354.1|NM_007259.3	NP_001266283.1|NP_009190.2	Q9NRW7	VPS45_HUMAN	vacuolar protein sorting 45 homolog (S. cerevisiae)	298				K -> R (in Ref. 1; AAC50931). {ECO:0000305}.	blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|vesicle docking involved in exocytosis (GO:0006904)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21	Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCAGAAGAAGAAACCAAAAGA	0.338																																					p.K298E		.											.	VPS45	91	0			c.A892G						.						71.0	69.0	70.0					1																	150054035		2202	4300	6502	SO:0001583	missense	11311	exon9			AAGAAGAAACCAA	U35246	CCDS944.1, CCDS60244.1, CCDS72904.1	1q21.2	2008-02-05	2006-12-19	2006-12-19	ENSG00000136631	ENSG00000136631			14579	protein-coding gene	gene with protein product		610035	"""vacuolar protein sorting 45A (yeast homolog)"", ""vacuolar protein sorting 45A (yeast)"""	VPS45B, VPS45A		8996080	Standard	NM_007259		Approved	h-vps45, H1	uc001etp.3	Q9NRW7	OTTHUMG00000012511	ENST00000369130.3:c.892A>G	1.37:g.150054035A>G	ENSP00000358126:p.Lys298Glu	129.0	0.0		205.0	14.0	NM_007259	D3DUZ9|F5H8K1|Q15715|Q53FR8|Q5T4P6|Q9Y4Z6	Missense_Mutation	SNP	ENST00000369130.3	37	CCDS944.1	.	.	.	.	.	.	.	.	.	.	A	16.30	3.085144	0.55861	.	.	ENSG00000136631	ENST00000369130;ENST00000369128;ENST00000543996;ENST00000535106;ENST00000419023	T;T;T;T	0.76060	1.55;-0.99;1.55;1.55	5.54	5.54	0.83059	.	0.176312	0.64402	D	0.000008	T	0.69477	0.3115	M	0.68952	2.095	0.58432	D	0.999996	P;B;B;B	0.37423	0.594;0.03;0.065;0.03	B;B;B;B	0.43623	0.425;0.102;0.145;0.102	T	0.71384	-0.4609	10	0.38643	T	0.18	.	15.0164	0.71588	1.0:0.0:0.0:0.0	.	193;298;118;298	F5H8K1;Q53FR8;A0AR27;Q9NRW7	.;.;.;VPS45_HUMAN	E	298;193;173;229;229	ENSP00000358126:K298E;ENSP00000358124:K193E;ENSP00000440690:K229E;ENSP00000400143:K229E	ENSP00000358124:K193E	K	+	1	0	VPS45	148320659	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.467000	0.90390	2.326000	0.78906	0.533000	0.62120	AAA	.		0.338	VPS45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034964.1	NM_007259	
VPS52	6293	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	33236937	33236937	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr6:33236937C>G	ENST00000445902.2	-	6	620	c.402G>C	c.(400-402)caG>caC	p.Q134H	VPS52_ENST00000482399.1_3'UTR|RPS18_ENST00000474973.1_5'Flank|VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000436044.2_Missense_Mutation_p.Q9H|RPS18_ENST00000439602.2_5'Flank	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	134					ectodermal cell differentiation (GO:0010668)|embryonic ectodermal digestive tract development (GO:0048611)|protein transport (GO:0015031)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						TGAGGTCACTCTGAAAAGCTC	0.532																																					p.Q134H		.											.	VPS52	95	0			c.G402C						.						150.0	156.0	154.0					6																	33236937		1511	2709	4220	SO:0001583	missense	6293	exon6			GTCACTCTGAAAA	AJ223319	CCDS4770.2	6p21.3	2010-02-17	2006-12-19	2003-09-05	ENSG00000223501	ENSG00000223501			10518	protein-coding gene	gene with protein product		603443	"""SAC2 suppressor of actin mutations 2-like (yeast)"", ""vacuolar protein sorting 52 (yeast)"""	SACM2L		9790748	Standard	NM_022553		Approved	ARE1	uc003odm.1	Q8N1B4	OTTHUMG00000031276	ENST00000445902.2:c.402G>C	6.37:g.33236937C>G	ENSP00000409952:p.Gln134His	199.0	1.0		285.0	49.0	NM_022553	A2BF38|B0UZZ4|B4DNI9|Q53GR4|Q5JPA0|Q5SQW1|Q8IUN6|Q9NPT5	Missense_Mutation	SNP	ENST00000445902.2	37	CCDS4770.2	.	.	.	.	.	.	.	.	.	.	C	17.11	3.304948	0.60305	.	.	ENSG00000223501	ENST00000445902;ENST00000418054;ENST00000436044	.	.	.	5.0	4.13	0.48395	.	0.000000	0.85682	D	0.000000	T	0.72692	0.3492	M	0.83692	2.655	0.80722	D	1	D;D;D	0.59357	0.985;0.973;0.985	D;D;D	0.75484	0.929;0.986;0.929	T	0.76094	-0.3085	9	0.51188	T	0.08	-21.8621	11.4024	0.49878	0.0:0.9119:0.0:0.0881	.	112;9;134	B4DS44;B3KMF7;Q8N1B4	.;.;VPS52_HUMAN	H	134;112;9	.	ENSP00000414785:Q112H	Q	-	3	2	VPS52	33344915	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.378000	0.44309	1.492000	0.48499	-0.242000	0.12053	CAG	.		0.532	VPS52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076598.2	NM_022553	
VWA5A	4013	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	124016605	124016605	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	A	A	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr11:124016605A>T	ENST00000456829.2	+	19	2565	c.2314A>T	c.(2314-2316)Att>Ttt	p.I772F	VWA5A_ENST00000392748.1_Missense_Mutation_p.I772F|VWA5A_ENST00000360334.4_3'UTR	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	772										autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						GAAAGCTGCTATTACTTTCCT	0.443																																					p.I772F		.											.	VWA5A	92	0			c.A2314T						.						151.0	123.0	132.0					11																	124016605		2200	4295	6495	SO:0001583	missense	4013	exon18			GCTGCTATTACTT	AF002672	CCDS8444.1, CCDS8445.1	11q24.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000110002	ENSG00000110002			6658	protein-coding gene	gene with protein product		602929	"""loss of heterozygosity, 11, chromosomal region 2, gene A"""	LOH11CR2A		9417908, 14504409	Standard	NM_001130142		Approved	BCSC-1	uc001pzt.3	O00534	OTTHUMG00000165971	ENST00000456829.2:c.2314A>T	11.37:g.124016605A>T	ENSP00000407726:p.Ile772Phe	177.0	1.0		193.0	28.0	NM_014622	Q6UN19|Q6UN20|Q9BVF8	Missense_Mutation	SNP	ENST00000456829.2	37	CCDS8444.1	.	.	.	.	.	.	.	.	.	.	A	15.68	2.906044	0.52333	.	.	ENSG00000110002	ENST00000456829;ENST00000392748	T;T	0.03920	3.76;3.76	5.7	-2.27	0.06846	.	0.652243	0.15275	N	0.271040	T	0.04272	0.0118	L	0.34521	1.04	0.09310	N	1	B	0.33919	0.432	B	0.34301	0.179	T	0.26849	-1.0091	10	0.49607	T	0.09	-0.4299	11.0001	0.47600	0.5609:0.0:0.4391:0.0	.	772	O00534	VMA5A_HUMAN	F	772	ENSP00000407726:I772F;ENSP00000376504:I772F	ENSP00000376504:I772F	I	+	1	0	VWA5A	123521815	0.000000	0.05858	0.000000	0.03702	0.410000	0.31052	0.206000	0.17375	-0.709000	0.05008	0.533000	0.62120	ATT	.		0.443	VWA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387273.1	NM_014622	
WDR87	83889	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	38382236	38382236	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr19:38382236G>A	ENST00000303868.5	-	5	3457	c.3233C>T	c.(3232-3234)cCc>cTc	p.P1078L	WDR87_ENST00000447313.2_Missense_Mutation_p.P1117L	NM_031951.3	NP_114157.3	Q6ZQQ6	WDR87_HUMAN	WD repeat domain 87	1078										NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(2)|prostate(1)|skin(3)|stomach(1)	36						GCCTTTGCTGGGCTTGATGGC	0.483																																					p.P1078L		.											.	.	.	0			c.C3233T						.						54.0	46.0	49.0					19																	38382236		692	1591	2283	SO:0001583	missense	83889	exon5			TTGCTGGGCTTGA	AK128826	CCDS46063.1, CCDS74356.1	19q13.13	2013-01-09			ENSG00000171804	ENSG00000171804		"""WD repeat domain containing"""	29934	protein-coding gene	gene with protein product							Standard	XM_005259304		Approved	NYD-SP11	uc010efu.2	Q6ZQQ6	OTTHUMG00000048187	ENST00000303868.5:c.3233C>T	19.37:g.38382236G>A	ENSP00000368025:p.Pro1078Leu	158.0	0.0		201.0	30.0	NM_031951	Q9BWV9	Missense_Mutation	SNP	ENST00000303868.5	37	CCDS46063.1	.	.	.	.	.	.	.	.	.	.	G	4.136	0.023645	0.08006	.	.	ENSG00000171804	ENST00000447313;ENST00000303868	T;T	0.11277	2.8;2.79	3.79	-1.47	0.08772	.	1.806640	0.03118	N	0.163369	T	0.09555	0.0235	L	0.43152	1.355	0.09310	N	1	B;B	0.23058	0.079;0.079	B;B	0.15870	0.014;0.014	T	0.37337	-0.9710	10	0.10111	T	0.7	0.0221	8.4116	0.32646	0.0:0.1308:0.4877:0.3815	.	1078;1117	Q6ZQQ6;E7ESW6	WDR87_HUMAN;.	L	1117;1078	ENSP00000405012:P1117L;ENSP00000368025:P1078L	ENSP00000368025:P1078L	P	-	2	0	WDR87	43074076	0.001000	0.12720	0.012000	0.15200	0.001000	0.01503	0.030000	0.13688	-0.563000	0.06078	-2.257000	0.00281	CCC	.		0.483	WDR87-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314628.2	XM_940478	
CFAP43	80217	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	105952057	105952057	+	Silent	SNP	A	A	G			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr10:105952057A>G	ENST00000278064.2	-	12	1564	c.1239T>C	c.(1237-1239)taT>taC	p.Y413Y	WDR96_ENST00000428666.1_Silent_p.Y483Y|WDR96_ENST00000357060.3_Silent_p.Y482Y																NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CTTGCTGATCATAACTAGAAA	0.363																																					p.Y482Y		.											.	WDR96	95	0			c.T1446C						.						97.0	94.0	95.0					10																	105952057		2202	4299	6501	SO:0001819	synonymous_variant	80217	exon12			CTGATCATAACTA																												ENST00000278064.2:c.1239T>C	10.37:g.105952057A>G		69.0	0.0		75.0	19.0	NM_025145		Silent	SNP	ENST00000278064.2	37																																																																																				.		0.363	WDR96-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050200.1		
WNT8A	7478	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	137426301	137426301	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr5:137426301G>C	ENST00000398754.1	+	6	600	c.595G>C	c.(595-597)Gct>Cct	p.A199P	WNT8A_ENST00000506684.1_Missense_Mutation_p.A217P	NM_058244.2	NP_490645.1	Q9H1J5	WNT8A_HUMAN	wingless-type MMTV integration site family, member 8A	199					canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:0061317)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|endoderm development (GO:0007492)|establishment of organ orientation (GO:0048561)|neural crest cell fate commitment (GO:0014034)|neuron differentiation (GO:0030182)|palate development (GO:0060021)|polarity specification of anterior/posterior axis (GO:0009949)|polarity specification of proximal/distal axis (GO:0010085)|regulation of protein localization (GO:0032880)|regulation of transcription involved in anterior/posterior axis specification (GO:0044324)|response to retinoic acid (GO:0032526)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GCTGCAGCTGGCTGAATTCCG	0.522																																					p.A199P		.											.	WNT8A	524	0			c.G595C						.						47.0	46.0	46.0					5																	137426301		1937	4144	6081	SO:0001583	missense	7478	exon6			CAGCTGGCTGAAT	AB057725	CCDS43368.1, CCDS75311.1	5q31	2008-07-18			ENSG00000061492	ENSG00000061492		"""Wingless-type MMTV integration sites"""	12788	protein-coding gene	gene with protein product		606360				11408932	Standard	XM_005272076		Approved	WNT8D	uc003lcd.1	Q9H1J5	OTTHUMG00000129196	ENST00000398754.1:c.595G>C	5.37:g.137426301G>C	ENSP00000381739:p.Ala199Pro	124.0	0.0		144.0	17.0	NM_058244	Q96S51	Missense_Mutation	SNP	ENST00000398754.1	37	CCDS43368.1	.	.	.	.	.	.	.	.	.	.	G	11.21	1.570448	0.28003	.	.	ENSG00000061492	ENST00000506684;ENST00000504809;ENST00000398754	T;T;T	0.74842	-0.88;-0.88;-0.88	4.89	4.89	0.63831	.	0.168053	0.51477	D	0.000084	T	0.58119	0.2100	N	0.04820	-0.15	0.80722	D	1	B;B;P	0.40250	0.18;0.18;0.709	B;B;B	0.42593	0.174;0.174;0.392	T	0.58109	-0.7694	10	0.12103	T	0.63	.	18.2498	0.89998	0.0:0.0:1.0:0.0	.	217;217;199	D6RF47;D6RF94;Q9H1J5	.;.;WNT8A_HUMAN	P	217;217;199	ENSP00000426653:A217P;ENSP00000424809:A217P;ENSP00000381739:A199P	ENSP00000354726:A199P	A	+	1	0	WNT8A	137454200	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.214000	0.42853	2.537000	0.85549	0.557000	0.71058	GCT	.		0.522	WNT8A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280395.1	NM_058244	
ZC3H18	124245	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	88643755	88643755	+	Missense_Mutation	SNP	A	A	C			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr16:88643755A>C	ENST00000301011.5	+	2	424	c.224A>C	c.(223-225)gAg>gCg	p.E75A	ZC3H18_ENST00000452588.2_Missense_Mutation_p.E75A	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	75						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		CGGGCAAGTGAGCCTAAATCC	0.637																																					p.E75A	Ovarian(121;375 2276 20373 38669)	.											.	ZC3H18	69	0			c.A224C						.						37.0	39.0	38.0					16																	88643755		2197	4300	6497	SO:0001583	missense	124245	exon2			CAAGTGAGCCTAA	BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"""Zinc fingers, CCCH-type domain containing"""	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.224A>C	16.37:g.88643755A>C	ENSP00000301011:p.Glu75Ala	83.0	0.0		52.0	9.0	NM_144604	Q96DG4|Q96MP7	Missense_Mutation	SNP	ENST00000301011.5	37	CCDS10967.1	.	.	.	.	.	.	.	.	.	.	A	9.529	1.110385	0.20714	.	.	ENSG00000158545	ENST00000301011;ENST00000289509;ENST00000452588;ENST00000545404	T;T	0.33865	1.4;1.39	4.36	4.36	0.52297	.	0.122077	0.56097	D	0.000040	T	0.32164	0.0820	L	0.44542	1.39	0.30475	N	0.772884	P;P;P	0.45474	0.859;0.859;0.859	B;B;B	0.41917	0.37;0.37;0.37	T	0.26677	-1.0096	10	0.31617	T	0.26	-23.6357	13.55	0.61726	1.0:0.0:0.0:0.0	.	75;75;75	E7ERS3;B4DTK7;Q86VM9	.;.;ZCH18_HUMAN	A	75	ENSP00000301011:E75A;ENSP00000416951:E75A	ENSP00000289509:E75A	E	+	2	0	ZC3H18	87171256	0.989000	0.36119	0.991000	0.47740	0.007000	0.05969	4.375000	0.59549	1.582000	0.49881	0.459000	0.35465	GAG	.		0.637	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1	NM_144604	
ZC3H6	376940	broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	113082723	113082723	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr2:113082723G>A	ENST00000409871.1	+	11	2436	c.2035G>A	c.(2035-2037)Gat>Aat	p.D679N	ZC3H6_ENST00000343936.4_Missense_Mutation_p.D679N	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	679							metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						ATACCAAGAAGATGAAGAACA	0.473																																					p.D679N		.											.	ZC3H6	93	0			c.G2035A						.						79.0	78.0	78.0					2																	113082723		1964	4151	6115	SO:0001583	missense	376940	exon11			CAAGAAGATGAAG	AK123404	CCDS46393.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000188177	ENSG00000188177		"""Zinc fingers, CCCH-type domain containing"""	24762	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 6"""	ZC3HDC6			Standard	NM_198581		Approved	FLJ41410, FLJ45877, KIAA2035	uc002thq.1	P61129	OTTHUMG00000153286	ENST00000409871.1:c.2035G>A	2.37:g.113082723G>A	ENSP00000386764:p.Asp679Asn	350.0	2.0		414.0	126.0	NM_198581	A9JR71|Q6ZW96	Missense_Mutation	SNP	ENST00000409871.1	37	CCDS46393.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.509570	0.85282	.	.	ENSG00000188177	ENST00000409871;ENST00000343936;ENST00000542974	T;T	0.15718	2.4;2.4	5.65	5.65	0.86999	.	0.471358	0.24044	N	0.042069	T	0.23532	0.0569	L	0.58101	1.795	0.44937	D	0.997958	P	0.47191	0.891	B	0.40375	0.327	T	0.02220	-1.1193	10	0.66056	D	0.02	-3.0024	19.7303	0.96180	0.0:0.0:1.0:0.0	.	679	P61129	ZC3H6_HUMAN	N	679;679;656	ENSP00000386764:D679N;ENSP00000340298:D679N	ENSP00000340298:D679N	D	+	1	0	ZC3H6	112799194	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.320000	0.79064	2.671000	0.90904	0.591000	0.81541	GAT	.		0.473	ZC3H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330551.1	NM_198581	
ZFP2	80108	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	178359572	178359572	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr5:178359572A>G	ENST00000361362.2	+	5	1788	c.1258A>G	c.(1258-1260)Att>Gtt	p.I420V	ZFP2_ENST00000523286.1_Missense_Mutation_p.I420V|ZFP2_ENST00000503510.2_Missense_Mutation_p.I420V|ZFP2_ENST00000520301.1_Missense_Mutation_p.I420V	NM_030613.2	NP_085116.2	Q6ZN57	ZFP2_HUMAN	ZFP2 zinc finger protein	420					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		AAAAGCCTTCATTAAGAATTC	0.418																																					p.I420V		.											.	ZFP2	93	0			c.A1258G						.						63.0	66.0	65.0					5																	178359572		2203	4300	6503	SO:0001583	missense	80108	exon5			GCCTTCATTAAGA	AK025281	CCDS4440.1	5q35.3	2013-01-08	2012-11-27		ENSG00000198939	ENSG00000198939		"""Zinc fingers, C2H2-type"""	26138	protein-coding gene	gene with protein product			"""zinc finger protein 2 homolog (mouse)"""				Standard	NM_030613		Approved	FLJ21628, ZNF751	uc003mjn.1	Q6ZN57	OTTHUMG00000130885	ENST00000361362.2:c.1258A>G	5.37:g.178359572A>G	ENSP00000354453:p.Ile420Val	50.0	0.0		52.0	7.0	NM_030613	A5PLN5|B7ZM23|Q9H6Z6	Missense_Mutation	SNP	ENST00000361362.2	37	CCDS4440.1	.	.	.	.	.	.	.	.	.	.	a	12.02	1.811931	0.32053	.	.	ENSG00000198939	ENST00000361362;ENST00000520301;ENST00000523286;ENST00000503510	T;T;T;T	0.05717	3.4;3.4;3.4;3.4	4.85	4.85	0.62838	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.32719	N	0.005737	T	0.02807	0.0084	N	0.03238	-0.38	0.26509	N	0.974633	P	0.45283	0.855	B	0.38225	0.268	T	0.36672	-0.9738	10	0.51188	T	0.08	-11.7412	7.8747	0.29586	0.816:0.0:0.0:0.184	.	420	Q6ZN57	ZFP2_HUMAN	V	420	ENSP00000354453:I420V;ENSP00000430980:I420V;ENSP00000430531:I420V;ENSP00000438114:I420V	ENSP00000354453:I420V	I	+	1	0	ZFP2	178292178	0.000000	0.05858	1.000000	0.80357	0.999000	0.98932	0.602000	0.24134	2.018000	0.59344	0.533000	0.62120	ATT	.		0.418	ZFP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253470.2	NM_030613	
ZFP30	22835	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	38127120	38127120	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr19:38127120T>C	ENST00000351218.2	-	6	879	c.322A>G	c.(322-324)Aga>Gga	p.R108G	ZFP30_ENST00000589018.1_Intron|ZFP30_ENST00000514101.2_Missense_Mutation_p.R108G|ZFP30_ENST00000392144.1_Missense_Mutation_p.R108G	NM_014898.2	NP_055713.1	Q9Y2G7	ZFP30_HUMAN	ZFP30 zinc finger protein	108					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	21			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTTTTAATTCTTTCCATTACC	0.343																																					p.R108G		.											.	ZFP30	90	0			c.A322G						.						59.0	58.0	58.0					19																	38127120		2203	4300	6503	SO:0001583	missense	22835	exon6			TAATTCTTTCCAT	AB023178	CCDS33005.1	19q13.13	2013-01-08	2012-11-27		ENSG00000120784	ENSG00000120784		"""Zinc fingers, C2H2-type"", ""-"""	29555	protein-coding gene	gene with protein product			"""zinc finger protein 30 homolog (mouse)"""			10231032	Standard	NM_014898		Approved	ZNF745, KIAA0961	uc002ogx.1	Q9Y2G7	OTTHUMG00000048177	ENST00000351218.2:c.322A>G	19.37:g.38127120T>C	ENSP00000343581:p.Arg108Gly	121.0	1.0		142.0	38.0	NM_014898	Q58EY8	Missense_Mutation	SNP	ENST00000351218.2	37	CCDS33005.1	.	.	.	.	.	.	.	.	.	.	T	9.031	0.987309	0.18889	.	.	ENSG00000120784	ENST00000351218;ENST00000514101;ENST00000392144;ENST00000440715	T;T;T	0.05925	3.37;3.37;3.37	3.82	2.79	0.32731	.	0.655612	0.12653	N	0.450261	T	0.04907	0.0132	N	0.25957	0.775	0.30725	N	0.747856	B;B	0.24258	0.1;0.1	B;B	0.21708	0.036;0.036	T	0.14448	-1.0472	10	0.27082	T	0.32	.	8.4974	0.33136	0.0:0.1033:0.0:0.8967	.	108;108	D3Y2A0;Q9Y2G7	.;ZFP30_HUMAN	G	108;108;108;107	ENSP00000343581:R108G;ENSP00000422930:R108G;ENSP00000375988:R108G	ENSP00000343581:R108G	R	-	1	2	ZFP30	42818960	0.995000	0.38212	0.970000	0.41538	0.875000	0.50365	1.810000	0.38932	1.725000	0.51514	0.459000	0.35465	AGA	.		0.343	ZFP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109601.2	NM_014898	
ZHX3	23051	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	39833219	39833219	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr20:39833219C>T	ENST00000309060.3	-	4	753	c.338G>A	c.(337-339)gGg>gAg	p.G113E	ZHX3_ENST00000560361.1_Missense_Mutation_p.G113E|ZHX3_ENST00000559234.1_Missense_Mutation_p.G113E|ZHX3_ENST00000432768.2_Missense_Mutation_p.G113E|ZHX3_ENST00000557816.1_Missense_Mutation_p.G113E|ZHX3_ENST00000540170.1_Missense_Mutation_p.G113E|ZHX3_ENST00000544979.2_Missense_Mutation_p.G113E|ZHX3_ENST00000558993.1_Missense_Mutation_p.G113E			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	113					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoblast differentiation (GO:0045669)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				AAAACTGCACCCACTGCATAC	0.488																																					p.G113E		.											.	ZHX3	93	0			c.G338A						.						107.0	104.0	105.0					20																	39833219		2203	4300	6503	SO:0001583	missense	23051	exon3			CTGCACCCACTGC	AB007855	CCDS13315.1	20q12	2012-03-09	2004-01-29	2004-01-30	ENSG00000174306	ENSG00000174306		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	15935	protein-coding gene	gene with protein product		609598	"""triple homeobox 1"""	TIX1		9455477	Standard	XM_005260343		Approved	KIAA0395	uc002xjs.1	Q9H4I2	OTTHUMG00000032481	ENST00000309060.3:c.338G>A	20.37:g.39833219C>T	ENSP00000312222:p.Gly113Glu	84.0	0.0		96.0	20.0	NM_015035	E1P5W5|F5H820|O43145|Q6NUJ7	Missense_Mutation	SNP	ENST00000309060.3	37	CCDS13315.1	.	.	.	.	.	.	.	.	.	.	C	0.838	-0.742884	0.03088	.	.	ENSG00000174306	ENST00000309060;ENST00000373263;ENST00000540170;ENST00000544979;ENST00000432768;ENST00000441102;ENST00000419740	T;T;T;T;T	0.24538	1.85;3.28;3.28;3.06;1.85	6.07	2.66	0.31614	Zinc finger, C2H2-like (1);	0.633648	0.17566	N	0.169659	T	0.04998	0.0134	N	0.00408	-1.53	0.09310	N	1	B;B;B;B	0.06786	0.0;0.0;0.001;0.0	B;B;B;B	0.04013	0.0;0.001;0.001;0.001	T	0.40270	-0.9572	10	0.02654	T	1	-5.7801	5.902	0.18972	0.0:0.1905:0.3881:0.4214	.	113;113;113;113	A8K8Q0;Q9H4I2;F5H820;F6R4Q5	.;ZHX3_HUMAN;.;.	E	113	ENSP00000312222:G113E;ENSP00000362360:G113E;ENSP00000442290:G113E;ENSP00000443783:G113E;ENSP00000415498:G113E	ENSP00000312222:G113E	G	-	2	0	ZHX3	39266633	0.046000	0.20272	0.844000	0.33320	0.909000	0.53808	1.051000	0.30417	0.248000	0.21435	-0.165000	0.13383	GGG	.		0.488	ZHX3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079262.3	NM_015035	
ZNF222	7673	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	44536345	44536345	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr19:44536345A>G	ENST00000187879.8	+	4	680	c.518A>G	c.(517-519)tAt>tGt	p.Y173C	ZNF222_ENST00000391960.3_Missense_Mutation_p.Y213C|ZNF223_ENST00000591793.1_Intron	NM_013360.2	NP_037492.2	Q9UK12	ZN222_HUMAN	zinc finger protein 222	173					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20		Prostate(69;0.0435)				GTGAAATGCTATAAGTGTGAT	0.438																																					p.Y213C		.											.	ZNF222	93	0			c.A638G						.						148.0	153.0	151.0					19																	44536345		2203	4300	6503	SO:0001583	missense	7673	exon4			AATGCTATAAGTG	AF187988	CCDS33045.1, CCDS46098.1	19q13.2	2013-01-08				ENSG00000159885		"""Zinc fingers, C2H2-type"", ""-"""	13015	protein-coding gene	gene with protein product							Standard	NM_013360		Approved		uc002oye.3	Q9UK12		ENST00000187879.8:c.518A>G	19.37:g.44536345A>G	ENSP00000187879:p.Tyr173Cys	200.0	0.0		267.0	30.0	NM_001129996	G5E9B9|Q8N6G7|Q9P1U5	Missense_Mutation	SNP	ENST00000187879.8	37	CCDS33045.1	.	.	.	.	.	.	.	.	.	.	A	11.14	1.552228	0.27739	.	.	ENSG00000159885	ENST00000391960;ENST00000187879;ENST00000251272	T;T	0.20463	3.15;2.07	2.79	-0.744	0.11101	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.23014	0.0556	M	0.81497	2.545	0.09310	N	1	B;B	0.15473	0.013;0.008	B;B	0.17098	0.017;0.007	T	0.37314	-0.9711	9	0.72032	D	0.01	.	3.3882	0.07280	0.4917:0.0:0.3321:0.1762	.	213;173	G5E9B9;Q9UK12	.;ZN222_HUMAN	C	213;173;119	ENSP00000375822:Y213C;ENSP00000187879:Y173C	ENSP00000187879:Y173C	Y	+	2	0	ZNF222	49228185	0.000000	0.05858	0.000000	0.03702	0.669000	0.39330	-0.672000	0.05244	-0.409000	0.07553	0.172000	0.16884	TAT	.		0.438	ZNF222-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000460465.2		
ZNF135	7694	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	58578913	58578913	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr19:58578913A>T	ENST00000313434.5	+	5	1162	c.1061A>T	c.(1060-1062)tAt>tTt	p.Y354F	ZNF135_ENST00000359978.6_Missense_Mutation_p.Y366F|RN7SL526P_ENST00000469492.2_RNA|ZNF135_ENST00000439855.2_Missense_Mutation_p.Y354F|ZNF135_ENST00000401053.4_Missense_Mutation_p.Y378F|ZNF135_ENST00000511556.1_Missense_Mutation_p.Y366F|ZNF135_ENST00000506786.1_Missense_Mutation_p.Y312F	NM_003436.3	NP_003427.3	P52742	ZN135_HUMAN	zinc finger protein 135	354					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		GAGAAACCCTATCAGTGTGGT	0.567																																					p.Y378F		.											.	ZNF135	91	0			c.A1133T						.						55.0	47.0	50.0					19																	58578913		2203	4300	6503	SO:0001583	missense	7694	exon4			AACCCTATCAGTG	U09413	CCDS12970.1, CCDS12970.2, CCDS54329.1, CCDS54330.1, CCDS74471.1, CCDS74472.1	19q13.4	2013-01-08	2006-05-12			ENSG00000176293		"""Zinc fingers, C2H2-type"", ""-"""	12919	protein-coding gene	gene with protein product		604077	"""zinc finger protein 61"", ""zinc finger protein 135 (clone pHZ-17)"""	ZNF61, ZNF78L1		7557990, 1505991	Standard	NM_003436		Approved	pHZ-17	uc002qrg.3	P52742		ENST00000313434.5:c.1061A>T	19.37:g.58578913A>T	ENSP00000321406:p.Tyr354Phe	138.0	0.0		188.0	26.0	NM_007134	B4DHH9|E9PEV2|F5GYY9|I3L0B3|Q5U5L3|Q8N1I7	Missense_Mutation	SNP	ENST00000313434.5	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	6.492|6.492	0.458944|0.458944	0.12342|0.12342	.|.	.|.	ENSG00000176293|ENSG00000176293	ENST00000391699|ENST00000504540;ENST00000401053;ENST00000359978;ENST00000439855;ENST00000313434;ENST00000511556;ENST00000506786	.|T;T;T;T;T;T	.|0.18338	.|2.22;2.22;2.22;2.22;2.22;2.22	2.75|2.75	2.75|2.75	0.32379|0.32379	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|.	.|.	.|.	.|.	T|T	0.14614|0.14614	0.0353|0.0353	N|N	0.12471|0.12471	0.22|0.22	0.09310|0.09310	N|N	1|1	.|P;P;B	.|0.48294	.|0.491;0.908;0.118	.|B;P;B	.|0.53490	.|0.213;0.727;0.039	T|T	0.11717|0.11717	-1.0576|-1.0576	5|9	.|0.35671	.|T	.|0.21	.|.	6.2384|6.2384	0.20776|0.20776	0.7761:0.0:0.0:0.2239|0.7761:0.0:0.0:0.2239	.|.	.|366;354;366	.|E9PEV2;P52742;Q8N1I7	.|.;ZN135_HUMAN;.	F|F	372|366;378;366;354;354;366;312	.|ENSP00000441410:Y378F;ENSP00000369437:Y366F;ENSP00000444828:Y354F;ENSP00000321406:Y354F;ENSP00000422074:Y366F;ENSP00000427691:Y312F	.|ENSP00000321406:Y354F	I|Y	+|+	1|2	0|0	ZNF135|ZNF135	63270725|63270725	0.001000|0.001000	0.12720|0.12720	0.664000|0.664000	0.29753|0.29753	0.028000|0.028000	0.11728|0.11728	1.281000|1.281000	0.33214|0.33214	1.272000|1.272000	0.44329|0.44329	0.455000|0.455000	0.32223|0.32223	ATC|TAT	.		0.567	ZNF135-003	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000361899.2	NM_003436	
ZNF280C	55609	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	X	129349772	129349772	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chrX:129349772T>A	ENST00000370978.4	-	14	1984	c.1831A>T	c.(1831-1833)Aac>Tac	p.N611Y		NM_017666.4	NP_060136.1	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	611					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						TACCTTATGTTCTTCAAAGCA	0.313																																					p.N611Y		.											.	ZNF280C	132	0			c.A1831T						.						145.0	131.0	136.0					X																	129349772		2203	4300	6503	SO:0001583	missense	55609	exon14			TTATGTTCTTCAA	AL834333	CCDS14622.1	Xq25	2008-05-02	2007-09-20	2007-09-20	ENSG00000056277	ENSG00000056277			25955	protein-coding gene	gene with protein product			"""suppressor of hairy wing homolog 3 (Drosophila)"""	SUHW3		12477932	Standard	NM_017666		Approved	FLJ20095, ZNF633	uc004evm.3	Q8ND82	OTTHUMG00000022393	ENST00000370978.4:c.1831A>T	X.37:g.129349772T>A	ENSP00000360017:p.Asn611Tyr	82.0	0.0		78.0	14.0	NM_017666	A8K2V8|Q9NXR3	Missense_Mutation	SNP	ENST00000370978.4	37	CCDS14622.1	.	.	.	.	.	.	.	.	.	.	T	14.71	2.617575	0.46736	.	.	ENSG00000056277	ENST00000066465;ENST00000370978;ENST00000447817	T;T	0.06068	4.13;3.35	5.06	3.81	0.43845	.	.	.	.	.	T	0.18841	0.0452	M	0.72894	2.215	0.21967	N	0.999441	D;P	0.55172	0.97;0.923	P;P	0.62184	0.899;0.762	T	0.03344	-1.1046	9	0.62326	D	0.03	.	8.1169	0.30948	0.1824:0.0:0.0:0.8176	.	562;611	Q9UJJ2;Q8ND82	.;Z280C_HUMAN	Y	562;611;562	ENSP00000360017:N611Y;ENSP00000408521:N562Y	ENSP00000066465:N562Y	N	-	1	0	ZNF280C	129177453	1.000000	0.71417	0.993000	0.49108	0.422000	0.31414	2.283000	0.43470	1.689000	0.51079	0.347000	0.21830	AAC	.		0.313	ZNF280C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058251.1	NM_017666	
ZNF426	79088	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	9641667	9641667	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr19:9641667T>C	ENST00000535489.1	-	5	738	c.402A>G	c.(400-402)atA>atG	p.I134M	ZNF426_ENST00000253115.2_Missense_Mutation_p.I134M|ZNF426_ENST00000589289.1_Intron|ZNF426_ENST00000593003.1_Missense_Mutation_p.I96M			Q9BUY5	ZN426_HUMAN	zinc finger protein 426	134					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						TTACCAATTGTATCCCAATGG	0.368																																					p.I134M		.											.	ZNF426	91	0			c.A402G						.						101.0	96.0	98.0					19																	9641667		2203	4300	6503	SO:0001583	missense	79088	exon7			CAATTGTATCCCA	AK095759	CCDS12215.1, CCDS74279.1	19p13.2	2013-01-08				ENSG00000130818		"""Zinc fingers, C2H2-type"", ""-"""	20725	protein-coding gene	gene with protein product							Standard	NM_024106		Approved	MGC2663	uc002mlq.3	Q9BUY5		ENST00000535489.1:c.402A>G	19.37:g.9641667T>C	ENSP00000439017:p.Ile134Met	87.0	0.0		91.0	9.0	NM_024106	B3KTL2	Missense_Mutation	SNP	ENST00000535489.1	37	CCDS12215.1	.	.	.	.	.	.	.	.	.	.	T	0.019	-1.465268	0.01053	.	.	ENSG00000130818	ENST00000545189;ENST00000253115;ENST00000535489	T;T	0.05925	3.37;3.37	1.53	-0.823	0.10815	.	.	.	.	.	T	0.02610	0.0079	N	0.04636	-0.2	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	T	0.47086	-0.9144	9	0.23302	T	0.38	.	5.8549	0.18714	0.0:0.3418:0.0:0.6582	.	121;134	Q59EH4;Q9BUY5	.;ZN426_HUMAN	M	121;134;134	ENSP00000253115:I134M;ENSP00000439017:I134M	ENSP00000253115:I134M	I	-	3	3	ZNF426	9502667	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.149000	0.03182	-0.917000	0.03813	-1.811000	0.00612	ATA	.		0.368	ZNF426-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449905.1	NM_024106	
ZNF441	126068	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	11888524	11888524	+	Silent	SNP	G	G	A			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr19:11888524G>A	ENST00000357901.4	+	2	204	c.102G>A	c.(100-102)caG>caA	p.Q34Q	ZNF441_ENST00000454339.2_5'UTR	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	34	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATGTGATGCAGGAAACCATCA	0.433																																					p.Q34Q		.											.	ZNF441	69	0			c.G102A						.						150.0	125.0	132.0					19																	11888524		692	1591	2283	SO:0001819	synonymous_variant	126068	exon2			GATGCAGGAAACC	AK095956	CCDS12266.2	19p13.13	2013-01-08			ENSG00000197044	ENSG00000197044		"""Zinc fingers, C2H2-type"", ""-"""	20875	protein-coding gene	gene with protein product							Standard	NM_152355		Approved	FLJ38637	uc010dyj.3	Q8N8Z8	OTTHUMG00000154449	ENST00000357901.4:c.102G>A	19.37:g.11888524G>A		180.0	0.0		191.0	19.0	NM_152355		Silent	SNP	ENST00000357901.4	37	CCDS12266.2																																																																																			.		0.433	ZNF441-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335273.3	NM_152355	
ZNF439	90594	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	19	11978948	11978948	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr19:11978948A>G	ENST00000304030.2	+	3	1264	c.1064A>G	c.(1063-1065)gAa>gGa	p.E355G	ZNF439_ENST00000455282.1_Missense_Mutation_p.E219G|ZNF439_ENST00000592534.1_Intron	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	355					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						AGACCTTATGAATGTAAGACA	0.368																																					p.E355G		.											.	ZNF439	91	0			c.A1064G						.						82.0	83.0	83.0					19																	11978948		2203	4300	6503	SO:0001583	missense	90594	exon3			CTTATGAATGTAA	AL833935	CCDS12268.1	19p13.13	2013-01-08			ENSG00000171291	ENSG00000171291		"""Zinc fingers, C2H2-type"", ""-"""	20873	protein-coding gene	gene with protein product							Standard	NM_152262		Approved	DKFZp571K0837	uc002mss.3	Q8NDP4	OTTHUMG00000156527	ENST00000304030.2:c.1064A>G	19.37:g.11978948A>G	ENSP00000305077:p.Glu355Gly	76.0	0.0		94.0	11.0	NM_152262	Q8IYZ7|Q96SU1	Missense_Mutation	SNP	ENST00000304030.2	37	CCDS12268.1	.	.	.	.	.	.	.	.	.	.	a	10.93	1.490582	0.26686	.	.	ENSG00000171291	ENST00000455282;ENST00000304030	T;T	0.07688	3.17;3.17	0.575	0.575	0.17374	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12689	0.0308	L	0.50333	1.59	0.09310	N	0.999994	D	0.53885	0.963	P	0.53146	0.719	T	0.16748	-1.0392	9	0.66056	D	0.02	.	4.5082	0.11898	0.6646:0.3354:0.0:0.0	.	355	Q8NDP4	ZN439_HUMAN	G	219;355	ENSP00000395632:E219G;ENSP00000305077:E355G	ENSP00000305077:E355G	E	+	2	0	ZNF439	11839948	0.000000	0.05858	0.012000	0.15200	0.085000	0.17905	-0.180000	0.09754	0.485000	0.27652	0.163000	0.16589	GAA	.		0.368	ZNF439-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344513.1		
ZNF518B	85460	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	10445461	10445461	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr4:10445461C>T	ENST00000326756.3	-	3	2930	c.2492G>A	c.(2491-2493)gGg>gAg	p.G831E		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	831					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						ATCTATTGGCCCCCTTTCACT	0.463																																					p.G831E		.											.	ZNF518B	72	0			c.G2492A						.						91.0	89.0	90.0					4																	10445461		2203	4300	6503	SO:0001583	missense	85460	exon3			ATTGGCCCCCTTT	AB051516	CCDS33960.1	4p16.1	2007-12-07				ENSG00000178163		"""Zinc fingers, C2H2-type"""	29365	protein-coding gene	gene with protein product						11214970	Standard	XM_005248193		Approved	KIAA1729	uc003gmn.3	Q9C0D4		ENST00000326756.3:c.2492G>A	4.37:g.10445461C>T	ENSP00000317614:p.Gly831Glu	127.0	0.0		136.0	27.0	NM_053042	Q96LN8	Missense_Mutation	SNP	ENST00000326756.3	37	CCDS33960.1	.	.	.	.	.	.	.	.	.	.	C	11.04	1.521364	0.27211	.	.	ENSG00000178163	ENST00000326756	T	0.01406	4.93	6.02	0.754	0.18410	.	0.625953	0.15390	N	0.264864	T	0.01092	0.0036	L	0.33485	1.01	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.49322	-0.8952	10	0.02654	T	1	-8.3179	7.3401	0.26632	0.0:0.4118:0.0:0.5882	.	831	Q9C0D4	Z518B_HUMAN	E	831	ENSP00000317614:G831E	ENSP00000317614:G831E	G	-	2	0	ZNF518B	10054559	0.001000	0.12720	0.001000	0.08648	0.143000	0.21401	0.838000	0.27572	0.160000	0.19432	-0.140000	0.14226	GGG	.		0.463	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359040.1	NM_053042	
ZNF578	147660	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	53014631	53014631	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr19:53014631C>T	ENST00000421239.2	+	6	1241	c.997C>T	c.(997-999)Cat>Tat	p.H333Y	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	333					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		CCTTACATGCCATCATAGGTG	0.428																																					p.H333Y		.											.	.	.	0			c.C997T						.						112.0	114.0	113.0					19																	53014631		2200	4300	6500	SO:0001583	missense	147660	exon6			ACATGCCATCATA	AK095562	CCDS54310.1	19q13.41	2013-09-20			ENSG00000258405	ENSG00000258405		"""Zinc fingers, C2H2-type"", ""-"""	26449	protein-coding gene	gene with protein product							Standard	NM_001099694		Approved	FLJ31384	uc002pzp.4	Q96N58	OTTHUMG00000156468	ENST00000421239.2:c.997C>T	19.37:g.53014631C>T	ENSP00000459216:p.His333Tyr	163.0	0.0		218.0	37.0	NM_001099694	B4DR51|I3L1Y6	Missense_Mutation	SNP	ENST00000421239.2	37	CCDS54310.1	.	.	.	.	.	.	.	.	.	.	-	13.74	2.327480	0.41197	.	.	ENSG00000258405	ENST00000553364	.	.	.	1.48	1.48	0.22813	.	.	.	.	.	T	0.60064	0.2240	H	0.95402	3.665	0.19575	N	0.999962	D	0.54047	0.964	B	0.42798	0.398	T	0.60393	-0.7272	7	.	.	.	.	10.0458	0.42186	0.0:1.0:0.0:0.0	.	333	G3V4F6	.	Y	333	.	.	H	+	1	0	ZNF578	57706443	0.991000	0.36638	0.001000	0.08648	0.011000	0.07611	3.772000	0.55325	0.835000	0.34877	0.297000	0.19635	CAT	.		0.428	ZNF578-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344298.3	NM_152472	
ZNF608	57507	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	123983011	123983011	+	Silent	SNP	A	A	G			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr5:123983011A>G	ENST00000306315.5	-	4	3501	c.3066T>C	c.(3064-3066)agT>agC	p.S1022S	ZNF608_ENST00000513985.1_5'Flank|ZNF608_ENST00000504926.1_Silent_p.S595S	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	1022							metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GCGTGCTCCCACTATTTCCAG	0.468																																					p.S1022S		.											.	ZNF608	229	0			c.T3066C						.						166.0	159.0	161.0					5																	123983011		2203	4300	6503	SO:0001819	synonymous_variant	57507	exon4			GCTCCCACTATTT	AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"""Zinc fingers, C2H2-type"""	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.3066T>C	5.37:g.123983011A>G		161.0	0.0		170.0	31.0	NM_020747	A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Silent	SNP	ENST00000306315.5	37	CCDS34219.1																																																																																			.		0.468	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	XM_114432	
ZNF714	148206	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	21299624	21299624	+	Missense_Mutation	SNP	T	T	C	rs371085101		TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr19:21299624T>C	ENST00000596143.1	+	5	479	c.154T>C	c.(154-156)Tct>Cct	p.S52P	ZNF714_ENST00000291770.7_Intron|ZNF714_ENST00000601416.1_Missense_Mutation_p.F58S|ZNF714_ENST00000596053.1_Intron	NM_182515.3	NP_872321	Q96N38	ZN714_HUMAN	zinc finger protein 714	52					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						TATGTGTTCTTCTTTTACCAG	0.313																																					p.S52P		.											.	ZNF714	67	0			c.T154C						.						55.0	56.0	56.0					19																	21299624		2175	4287	6462	SO:0001583	missense	148206	exon5			TGTTCTTCTTTTA	AK056006	CCDS54239.1	19p12	2013-01-08				ENSG00000160352		"""Zinc fingers, C2H2-type"""	27124	protein-coding gene	gene with protein product						12477932	Standard	NM_182515		Approved		uc002npo.4	Q96N38		ENST00000596143.1:c.154T>C	19.37:g.21299624T>C	ENSP00000472368:p.Ser52Pro	79.0	0.0		76.0	42.0	NM_182515	Q49AI1|Q86W65|Q8ND40	Missense_Mutation	SNP	ENST00000596143.1	37	CCDS54239.1	.	.	.	.	.	.	.	.	.	.	.	4.151	0.026416	0.08054	.	.	ENSG00000160352	ENST00000343332;ENST00000291770	.	.	.	0.601	-0.932	0.10435	.	.	.	.	.	T	0.13670	0.0331	N	0.20685	0.6	0.09310	N	1	P;B	0.41041	0.736;0.386	B;B	0.31495	0.131;0.043	T	0.12192	-1.0557	7	0.59425	D	0.04	.	.	.	.	.	52;52	Q96N38-2;A6NEM4	.;.	P	52	.	ENSP00000291770:S52P	S	+	1	0	ZNF714	21091464	0.002000	0.14202	0.001000	0.08648	0.002000	0.02628	-0.067000	0.11579	-0.412000	0.07519	0.374000	0.22700	TCT	.		0.313	ZNF714-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463930.1	NM_182515	
ZNF821	55565	broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	71913830	71913830	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr16:71913830G>T	ENST00000565601.1	-	2	427	c.20C>A	c.(19-21)aCa>aAa	p.T7K	ZNF821_ENST00000425432.1_Missense_Mutation_p.T7K|RP11-498D10.3_ENST00000561979.1_RNA|ZNF821_ENST00000564134.1_Missense_Mutation_p.T7K|ATXN1L_ENST00000569119.1_Intron|ZNF821_ENST00000313565.6_Missense_Mutation_p.T7K|ZNF821_ENST00000446827.2_Missense_Mutation_p.T7K|ZNF821_ENST00000564943.1_5'UTR	NM_001201553.1	NP_001188482.1	O75541	ZN821_HUMAN	zinc finger protein 821	7					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(2)	13						ATTTGGATTTGTCTGTTTCCG	0.468																																					p.T7K		.											.	ZNF821	23	0			c.C20A						.						308.0	296.0	300.0					16																	71913830		2198	4300	6498	SO:0001583	missense	55565	exon3			GGATTTGTCTGTT	AF070588	CCDS32481.1, CCDS56006.1, CCDS73911.1	16q22.3	2008-05-02				ENSG00000102984		"""Zinc fingers, C2H2-type"""	28043	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_017530		Approved		uc021tlb.1	O75541		ENST00000565601.1:c.20C>A	16.37:g.71913830G>T	ENSP00000455648:p.Thr7Lys	173.0	2.0		168.0	31.0	NM_001201556	A6NK48|B4DKK4|D3DWS3	Missense_Mutation	SNP	ENST00000565601.1	37	CCDS56006.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.188530	0.57909	.	.	ENSG00000102984	ENST00000425432;ENST00000313565;ENST00000446827	T;T;T	0.01313	6.27;5.02;5.02	5.75	5.75	0.90469	.	0.129088	0.52532	D	0.000064	T	0.04092	0.0114	N	0.19112	0.55	0.54753	D	0.999981	D;D	0.57899	0.981;0.968	D;D	0.72625	0.95;0.978	T	0.60924	-0.7166	10	0.56958	D	0.05	-5.6331	16.6641	0.85248	0.0:0.0:1.0:0.0	.	7;7	B4DKK4;O75541-2	.;.	K	7	ENSP00000398089:T7K;ENSP00000313822:T7K;ENSP00000405908:T7K	ENSP00000313822:T7K	T	-	2	0	ZNF821	70471331	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.016000	0.64041	2.696000	0.92011	0.655000	0.94253	ACA	.		0.468	ZNF821-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434180.1	NM_017530	
ZNHIT6	54680	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	86123530	86123530	+	Splice_Site	SNP	C	C	A	rs139368369		TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr1:86123530C>A	ENST00000370574.3	-	9	1505	c.1372G>T	c.(1372-1374)Gtg>Ttg	p.V458L	ZNHIT6_ENST00000431532.2_Splice_Site_p.V419L			Q9NWK9	BCD1_HUMAN	zinc finger, HIT-type containing 6	458					box C/D snoRNP assembly (GO:0000492)|ribosome biogenesis (GO:0042254)	extracellular vesicular exosome (GO:0070062)|pre-snoRNP complex (GO:0070761)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						TTACACTTACCTTGGTGAAGA	0.328																																					p.V458L		.											.	ZNHIT6	153	0			c.G1372T						.	C	LEU/VAL,LEU/VAL	0,4404		0,0,2202	121.0	123.0	122.0		1255,1372	4.8	1.0	1	dbSNP_134	122	1,8581	1.2+/-3.3	0,1,4290	no	missense-near-splice,missense-near-splice	ZNHIT6	NM_001170670.1,NM_017953.3	32,32	0,1,6492	AA,AC,CC		0.0117,0.0,0.0077	benign,benign	419/432,458/471	86123530	1,12985	2202	4291	6493	SO:0001630	splice_region_variant	54680	exon9			ACTTACCTTGGTG	AL442074	CCDS707.1, CCDS53338.1	1p22.3	2013-01-17	2010-09-15	2008-06-23	ENSG00000117174	ENSG00000117174		"""Zinc fingers, HIT-type"""	26089	protein-coding gene	gene with protein product	"""box C/D snoRNA essential 1 homolog (S. cerevisiae)"""		"""chromosome 1 open reading frame 181"", ""zinc finger, HIT type 6"""	C1orf181		12747765	Standard	NM_017953		Approved	FLJ20729, NY-BR-75, BCD1	uc001dlh.3	Q9NWK9	OTTHUMG00000010576	ENST00000370574.3:c.1372+1G>T	1.37:g.86123530C>A		55.0	0.0		54.0	13.0	NM_017953	B2RBA1|B4DP13|D3DT20|Q9H278|Q9H3X3|Q9NWN0	Missense_Mutation	SNP	ENST00000370574.3	37	CCDS707.1	.	.	.	.	.	.	.	.	.	.	C	12.82	2.052131	0.36181	0.0	1.17E-4	ENSG00000117174	ENST00000431532;ENST00000370574	T;T	0.45276	0.94;0.9	5.67	4.76	0.60689	.	0.811253	0.11117	N	0.597822	T	0.19685	0.0473	L	0.53249	1.67	0.29441	N	0.859165	B;B	0.26672	0.035;0.156	B;B	0.22386	0.018;0.039	T	0.11155	-1.0599	9	.	.	.	-0.8053	9.9337	0.41539	0.0:0.8427:0.0:0.1573	.	419;458	B4DP13;Q9NWK9	.;BCD1_HUMAN	L	419;458	ENSP00000414344:V419L;ENSP00000359606:V458L	.	V	-	1	0	ZNHIT6	85896118	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.259000	0.43259	1.540000	0.49301	0.655000	0.94253	GTG	C|1.000;A|0.000		0.328	ZNHIT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029186.1	NM_017953	Missense_Mutation
TNNT3	7140	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	1955022	1955023	+	Silent	DNP	CC	CC	AA	rs193178655		TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	CC	CC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr11:1955022_1955023CC>AA	ENST00000397301.1	+	11	284_285	c.276_277CC>AA	c.(274-279)gcCCgg>gcAAgg	p.92_93AR>AR	TNNT3_ENST00000381579.3_Silent_p.73_74AR>AR|TNNT3_ENST00000381558.1_Silent_p.73_74AR>AR|TNNT3_ENST00000397304.2_Silent_p.62_63AR>AR|TNNT3_ENST00000381549.3_Silent_p.73_74AR>AR|TNNT3_ENST00000381589.3_Silent_p.79_80AR>AR|TNNT3_ENST00000381548.3_Silent_p.83_84AR>AR|TNNT3_ENST00000446240.1_Silent_p.62_63AR>AR|TNNT3_ENST00000381561.4_Silent_p.84_85AR>AR|TNNT3_ENST00000360603.3_Silent_p.75_76AR>AR|TNNT3_ENST00000278317.6_Silent_p.81_82AR>AR			P45378	TNNT3_HUMAN	troponin T type 3 (skeletal, fast)	92					ATP catabolic process (GO:0006200)|muscle filament sliding (GO:0030049)|regulation of ATPase activity (GO:0043462)|regulation of striated muscle contraction (GO:0006942)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|troponin complex (GO:0005861)	calcium-dependent protein binding (GO:0048306)|tropomyosin binding (GO:0005523)|troponin C binding (GO:0030172)|troponin I binding (GO:0031013)			breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)		ACTTTGAAGCCCGGAAGAAGGA	0.604																																					p.E92E		.											.	.	.	0			.						.																																			SO:0001819	synonymous_variant	7140	.			TGAAGCCCGGAAG	M21984	CCDS7727.1, CCDS41594.1, CCDS41595.1, CCDS41596.1	11p15.5	2014-09-17	2005-09-12		ENSG00000130595	ENSG00000130595			11950	protein-coding gene	gene with protein product	"""troponin-T3, skeletal, fast"""	600692	"""troponin T3, skeletal, fast"""			8172653	Standard	NM_001042782		Approved	AMCD2B, DA2B, FSSV, DKFZp779M2348	uc001lup.4	P45378	OTTHUMG00000012475	Exception_encountered	11.37:g.1955022_1955023delinsAA		178.0	0.0		218.0	26.0	.	A8MQ76|A8MSW1|B3KPX3|B7WP64|B7ZL26|B7ZVV9|Q12975|Q12976|Q12977|Q12978|Q17RG9|Q6FH29|Q6N056|Q86TH6	Silent	DNP	ENST00000397301.1	37																																																																																				.		0.604	TNNT3-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000142920.3	NM_006757	
HERC2	8924	broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	28443786	28443787	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	CC	CC	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr15:28443786_28443787CC>AA	ENST00000261609.7	-	49	7953_7954	c.7845_7846GG>TT	c.(7843-7848)ggGGgc>ggTTgc	p.G2616C		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CAGTAGGTGCCCCCTTTCTGCT	0.431																																					p.G2616C		.											.	.	.	0			.						.																																			SO:0001583	missense	8924	.			AGGTGCCCCCTTT	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.7845_7846delinsAA	15.37:g.28443786_28443787delinsAA	ENSP00000261609:p.Gly2616Cys	438.0	2.0		404.0	76.0	.		Missense_Mutation	DNP	ENST00000261609.7	37	CCDS10021.1																																																																																			.		0.431	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667	
CADPS	8618	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	62522190	62522191	+	Missense_Mutation	DNP	TG	TG	AT			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	TG	TG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr3:62522190_62522191TG>AT	ENST00000383710.4	-	12	2381_2382	c.2032_2033CA>AT	c.(2032-2034)CAc>ATc	p.H678I	CADPS_ENST00000283269.9_Missense_Mutation_p.H678I|CADPS_ENST00000357948.3_Missense_Mutation_p.H678I	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	678					catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GAGGGAAGCGTGGTCAAAGTTA	0.396																																					p.H678I		.											.	.	.	0			.						.																																			SO:0001583	missense	8618	.			GAAGCGTGGTCAA	U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.2032_2033delinsAT	3.37:g.62522190_62522191delinsAT	ENSP00000373215:p.His678Ile	211.0	0.0		135.0	62.0	.	A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	DNP	ENST00000383710.4	37	CCDS46858.1																																																																																			.		0.396	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394	
POU3F2	5454	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	99283906	99283907	+	Nonsense_Mutation	DNP	CC	CC	AA			TCGA-DD-A3A9-01A-11D-A25V-10	TCGA-DD-A3A9-11A-11D-A25V-10	CC	CC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	96517058-18d2-4847-8085-768ca8aa1565	790941e2-4315-4425-9eeb-9b3ae2377bcb	g.chr6:99283906_99283907CC>AA	ENST00000328345.5	+	1	1327_1328	c.1157_1158CC>AA	c.(1156-1158)tCC>tAA	p.S386*		NM_005604.3	NP_005595.2	P20265	PO3F2_HUMAN	POU class 3 homeobox 2	386					astrocyte development (GO:0014002)|cellular response to organic substance (GO:0071310)|cerebral cortex radially oriented cell migration (GO:0021799)|epidermis development (GO:0008544)|forebrain ventricular zone progenitor cell division (GO:0021869)|hypothalamus cell differentiation (GO:0021979)|myelination in peripheral nervous system (GO:0022011)|neurohypophysis development (GO:0021985)|neuron differentiation (GO:0030182)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of axonogenesis (GO:0050770)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	identical protein binding (GO:0042802)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(3)|lung(5)	10		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0355)		GAGATCACCTCCCTCGCGGACA	0.579																																					p.S386*		.											.	.	.	0			.						.																																			SO:0001587	stop_gained	5454	.			TCACCTCCCTCGC	Z11933	CCDS5040.1	6q16.2	2011-06-20	2007-07-13		ENSG00000184486	ENSG00000184486		"""Homeoboxes / POU class"""	9215	protein-coding gene	gene with protein product		600494	"""POU domain class 3, transcription factor 2"""	OTF7		8441633	Standard	NM_005604		Approved	POUF3, BRN2, OCT7	uc003ppe.3	P20265	OTTHUMG00000015258	Exception_encountered	6.37:g.99283906_99283907delinsAA	ENSP00000329170:p.Ser386*	78.0	0.0		129.0	48.0	.	Q14960|Q86V54|Q9UJL0	Nonsense_Mutation	DNP	ENST00000328345.5	37	CCDS5040.1																																																																																			.		0.579	POU3F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041586.2		
