#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_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_Transcript_Id	i_Trna_alt1	i_Trna_alt2	i_Trna_ref	i_Trna_tot	i_Trna_var	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
SAMD11	148398	hgsc.bcm.edu	37	1	877831	877831	+	Missense_Mutation	SNP	T	T	C	rs6672356		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:877831T>C	ENST00000342066.3	+	10	1110	c.1027T>C	c.(1027-1029)Tgg>Cgg	p.W343R		NM_152486.2	NP_689699	Q96NU1	SAM11_HUMAN	sterile alpha motif domain containing 11	343				W -> R (in Ref. 1; AFP36417/AFP36421/ AFP36422, 2; BAB70781 and 4; AAH24295/ AAH33213). {ECO:0000305}.	negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		GATGTTCGCCTGGCAGCAGGA	0.776													N|||	5008	1.0	1.0	1.0	5008	,	,		6579	1.0		1.0	False		,,,				2504	1.0				p.W343R		.											.	SAMD11-90	0			c.T1027C						.						2.0	2.0	2.0					1																	877831		1282	2953	4235	SO:0001583	missense	148398	exon10			TTCGCCTGGCAGC	BC024295	CCDS2.2	1p36.33	2013-01-10			ENSG00000187634	ENSG00000187634		"""Sterile alpha motif (SAM) domain containing"""	28706	protein-coding gene	gene with protein product						12477932	Standard	NM_152486		Approved	MGC45873	uc001abw.1	Q96NU1	OTTHUMG00000040719	ENST00000342066.3:c.1027T>C	1.37:g.877831T>C	ENSP00000342313:p.Trp343Arg	0	0		7	7	NM_152486	0	0	0	0	0	A2AA76|I7FV78|I7FV81|I7G0Z6|Q5SV96|Q5SV99|Q5SVA0|Q8N195|Q8TB59	Missense_Mutation	SNP	ENST00000342066.3	37	CCDS2.2	2176	0.9963369963369964	492	1.0	361	0.9972375690607734	569	0.9947552447552448	754	0.9947229551451188	c	0.132	-1.111921	0.01813	.	.	ENSG00000187634	ENST00000342066	.	.	.	3.52	2.51	0.30379	.	0.186377	0.36101	N	0.002790	T	0.00012	0.0000	N	0.00114	-2.085	0.49051	P	2.510000000000012E-4	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.35076	-0.9803	8	0.02654	T	1	-1.0006	7.519	0.27616	0.1614:0.742:0.0:0.0966	rs6672356;rs17856721;rs17856973	327;343	Q96NU1-1;Q96NU1	.;SAM11_HUMAN	R	343	.	ENSP00000342313:W343R	W	+	1	0	SAMD11	867694	0.941000	0.31946	0.994000	0.49952	0.466000	0.32739	1.209000	0.32357	0.624000	0.30286	-0.701000	0.03672	TGG	T|0.004;C|0.996		0.776	SAMD11-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276866.2	NM_152486	
AGRN	375790	hgsc.bcm.edu;broad.mit.edu	37	1	979279	979279	+	Frame_Shift_Del	DEL	C	C	-	rs377606596		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:979279delC	ENST00000379370.2	+	10	1925	c.1875delC	c.(1873-1875)cacfs	p.H625fs		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	625	Kazal-like 7. {ECO:0000255|PROSITE- ProRule:PRU00798}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808)	basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GGTGTGAGCACCCCCCGCCCG	0.672																																					p.H625fs		.											.	AGRN-136	0			c.1875delC						.						23.0	23.0	23.0					1																	979279		2192	4278	6470	SO:0001589	frameshift_variant	375790	exon10			TGAGCACCCCCCG	XM_372195	CCDS30551.1	1p36.33	2014-09-17		2007-02-16	ENSG00000188157	ENSG00000188157		"""Proteoglycans / Extracellular Matrix : Other"""	329	protein-coding gene	gene with protein product	"""agrin proteoglycan"""	103320				1851019, 12270958	Standard	NM_198576		Approved	AGRIN	uc001ack.2	O00468	OTTHUMG00000040778	ENST00000379370.2:c.1875delC	1.37:g.979279delC	ENSP00000368678:p.His625fs	13	0		73	24	NM_198576	0	0	0	0	0	Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Frame_Shift_Del	DEL	ENST00000379370.2	37	CCDS30551.1																																																																																			.		0.672	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097990.2	NM_198576	
SDF4	51150	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	1	1153176	1153176	+	Intron	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:1153176G>A	ENST00000360001.6	-	7	1175				SDF4_ENST00000263741.7_Silent_p.P307P			Q9BRK5	CAB45_HUMAN	stromal cell derived factor 4						calcium ion-dependent exocytosis (GO:0017156)|cerebellum development (GO:0021549)|fat cell differentiation (GO:0045444)|response to ethanol (GO:0045471)|UV protection (GO:0009650)|zymogen granule exocytosis (GO:0070625)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|late endosome (GO:0005770)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)		GCGGGAGTGTGGGCACGTTCT	0.677																																					p.P307P		.											.	SDF4-154	0			c.C921T						.						35.0	36.0	36.0					1																	1153176		2202	4300	6502	SO:0001627	intron_variant	51150	exon7			GAGTGTGGGCACG		CCDS12.1, CCDS30553.1	1p36.33	2013-01-10			ENSG00000078808	ENSG00000078808		"""EF-hand domain containing"""	24188	protein-coding gene	gene with protein product	"""calcium binding protein"""	614282				9254016, 8609160	Standard	NM_016176		Approved	Cab45	uc001adh.4	Q9BRK5	OTTHUMG00000001812	ENST00000360001.6:c.913-108C>T	1.37:g.1153176G>A		21	0		31	15	NM_016547	0	0	0	0	0	B1AME5|B1AME6|B2RDF1|B4DSM1|Q53G52|Q53HQ9|Q8NBQ3|Q96AA1|Q9NZP7|Q9UN53	Silent	SNP	ENST00000360001.6	37	CCDS30553.1																																																																																			.		0.677	SDF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005064.1	NM_016176	
SCNN1D	6339	ucsc.edu;bcgsc.ca	37	1	1221031	1221031	+	Intron	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:1221031G>A	ENST00000338555.2	+	4	1210				SCNN1D_ENST00000400928.3_Intron|SCNN1D_ENST00000379116.5_Missense_Mutation_p.C182Y|SCNN1D_ENST00000325425.8_Missense_Mutation_p.C84Y			P51172	SCNND_HUMAN	sodium channel, non-voltage-gated 1, delta subunit						ion transmembrane transport (GO:0034220)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	actin cytoskeleton (GO:0015629)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ligand-gated sodium channel activity (GO:0015280)			lung(6)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	Amiloride(DB00594)|Triamterene(DB00384)	AACGCTGCCTGCAAACAGGGC	0.617																																					p.C182Y		.											.	SCNN1D-90	0			c.G545A						.						64.0	68.0	67.0					1																	1221031		692	1589	2281	SO:0001627	intron_variant	6339	exon6			CTGCCTGCAAACA	U38254	CCDS44037.1, CCDS44037.2	1p36.3-p36.2	2012-02-28	2012-02-28		ENSG00000162572	ENSG00000162572		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10601	protein-coding gene	gene with protein product		601328	"""sodium channel, nonvoltage-gated 1, delta"", ""sodium channel, non-voltage-gated 1, delta"""			8661065	Standard	NM_001130413		Approved	ENaCdelta, dNaCh	uc001adt.1	P51172	OTTHUMG00000002081	ENST00000338555.2:c.67-275G>A	1.37:g.1221031G>A		320	2		400	168	NM_001130413	0	0	0	1	1	A9Z1X6|B1PS44|Q08AQ3|Q09HT0|Q5T7L3|Q8NA24	Missense_Mutation	SNP	ENST00000338555.2	37		.	.	.	.	.	.	.	.	.	.	g	0.050	-1.254395	0.01457	.	.	ENSG00000162572	ENST00000379116;ENST00000325425	T;T	0.73152	-0.72;-0.58	1.91	-1.46	0.08800	.	3.392140	0.01224	N	0.008186	T	0.47637	0.1456	N	0.08118	0	0.09310	N	1	B	0.13145	0.007	B	0.15870	0.014	T	0.33420	-0.9869	10	0.54805	T	0.06	.	0.7068	0.00917	0.1674:0.2402:0.3486:0.2438	.	182	A6NNF7	.	Y	182;84	ENSP00000368411:C182Y;ENSP00000321594:C84Y	ENSP00000321594:C84Y	C	+	2	0	SCNN1D	1210894	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-1.379000	0.02554	-0.391000	0.07763	-0.507000	0.04495	TGC	.		0.617	SCNN1D-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000005802.2	NM_002978	
ACAP3	116983	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	1230156	1230156	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:1230156G>A	ENST00000354700.5	-	20	2056	c.1854C>T	c.(1852-1854)ggC>ggT	p.G618G	ACAP3_ENST00000379037.2_5'Flank|ACAP3_ENST00000353662.3_Intron	NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	618					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						CGTCCGAGCTGCCATCCGAGC	0.701																																					p.G618G		.											.	ACAP3-90	0			c.C1854T						.						42.0	59.0	54.0					1																	1230156		692	1588	2280	SO:0001819	synonymous_variant	116983	exon20			CGAGCTGCCATCC	AF411981	CCDS19.2	1p36	2013-01-10	2008-09-22	2008-09-22	ENSG00000131584	ENSG00000131584		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16754	protein-coding gene	gene with protein product			"""centaurin, beta 5"""	CENTB5			Standard	NM_030649		Approved	KIAA1716	uc001aeb.2	Q96P50	OTTHUMG00000002235	ENST00000354700.5:c.1854C>T	1.37:g.1230156G>A		214	1		333	146	NM_030649	0	0	46	74	28	B1AMF5|Q5TA42|Q5TA43|Q86UT3|Q9BSR9|Q9C0E7	Silent	SNP	ENST00000354700.5	37	CCDS19.2																																																																																			.		0.701	ACAP3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006366.2	NM_030649	
CPSF3L	54973	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	1247523	1247523	+	Missense_Mutation	SNP	G	G	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:1247523G>T	ENST00000435064.1	-	16	1694	c.1612C>A	c.(1612-1614)Ctg>Atg	p.L538M	CPSF3L_ENST00000540437.1_Missense_Mutation_p.L544M|CPSF3L_ENST00000462432.1_5'UTR|CPSF3L_ENST00000421495.2_Missense_Mutation_p.L280M|CPSF3L_ENST00000411962.1_Missense_Mutation_p.L440M|CPSF3L_ENST00000419704.1_Missense_Mutation_p.L437M|CPSF3L_ENST00000450926.2_Missense_Mutation_p.L516M|CPSF3L_ENST00000545578.1_Missense_Mutation_p.L509M	NM_001256460.1|NM_017871.5	NP_001243389.1|NP_060341.2	Q5TA45	INT11_HUMAN	cleavage and polyadenylation specific factor 3-like	538					snRNA processing (GO:0016180)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|integrator complex (GO:0032039)	hydrolase activity (GO:0016787)			endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)		TGGTCCTTCAGGACGCTGTGG	0.701																																					p.L544M		.											.	CPSF3L-90	0			c.C1630A						.						14.0	12.0	13.0					1																	1247523		2183	4255	6438	SO:0001583	missense	54973	exon18			CCTTCAGGACGCT	AL136813	CCDS21.1, CCDS57959.1, CCDS57960.1, CCDS57961.1, CCDS72678.1	1p36.33	2008-02-05			ENSG00000127054	ENSG00000127054			26052	protein-coding gene	gene with protein product	"""integrator complex subunit 11"""	611354				15684398, 16239144	Standard	NM_001256456		Approved	FLJ20542, RC-68, CPSF73L, INT11, INTS11	uc001aee.2	Q5TA45	OTTHUMG00000003330	ENST00000435064.1:c.1612C>A	1.37:g.1247523G>T	ENSP00000413493:p.Leu538Met	22	0		56	21	NM_001256456	0	0	1	1	0	A8K5S2|B3KPR3|B4DM87|G3V1S5|Q5TA46|Q5TA48|Q5TA52|Q5TA53|Q5TA54|Q7L3D7|Q96HY1|Q9BW36|Q9H0F9|Q9H8R5|Q9HAA6|Q9NWX9	Missense_Mutation	SNP	ENST00000435064.1	37	CCDS21.1	.	.	.	.	.	.	.	.	.	.	g	11.71	1.719354	0.30503	.	.	ENSG00000127054	ENST00000435064;ENST00000411962;ENST00000294579;ENST00000419704;ENST00000540437;ENST00000450926;ENST00000545578	T;T;T;T	0.51817	0.7;0.69;0.69;0.69	3.97	3.06	0.35304	.	0.000000	0.64402	D	0.000003	T	0.44052	0.1275	M	0.64404	1.975	0.80722	D	1	B;B;P;P;P;B	0.41420	0.317;0.376;0.633;0.749;0.51;0.212	B;B;B;B;B;B	0.40066	0.149;0.071;0.118;0.318;0.149;0.071	T	0.33854	-0.9852	10	0.31617	T	0.26	-37.0523	11.3792	0.49746	0.089:0.0:0.911:0.0	.	516;509;440;437;544;538	Q5TA45-3;B4DM87;C9IYS7;Q5TA45-2;G3V1S5;Q5TA45	.;.;.;.;.;INT11_HUMAN	M	538;440;340;437;544;516;509	ENSP00000413493:L538M;ENSP00000445001:L544M;ENSP00000392848:L516M;ENSP00000444672:L509M	ENSP00000294579:L340M	L	-	1	2	CPSF3L	1237386	1.000000	0.71417	0.993000	0.49108	0.683000	0.39861	3.011000	0.49567	0.898000	0.36418	0.486000	0.48141	CTG	.		0.701	CPSF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009360.2	NM_017871	
DVL1	1855	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	1	1275439	1275439	+	Missense_Mutation	SNP	C	C	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:1275439C>A	ENST00000378888.5	-	8	1172	c.888G>T	c.(886-888)gaG>gaT	p.E296D	DVL1_ENST00000378891.5_Missense_Mutation_p.E296D			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1	296	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|collateral sprouting (GO:0048668)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|cytoplasmic microtubule organization (GO:0031122)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|negative regulation of protein binding (GO:0032091)|negative regulation of protein kinase activity (GO:0006469)|neural tube development (GO:0021915)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|prepulse inhibition (GO:0060134)|protein localization to microtubule (GO:0035372)|protein localization to nucleus (GO:0034504)|receptor clustering (GO:0043113)|regulation of neurotransmitter levels (GO:0001505)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|social behavior (GO:0035176)|synapse organization (GO:0050808)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	axon (GO:0030424)|cell cortex (GO:0005938)|clathrin-coated vesicle (GO:0030136)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|growth cone (GO:0030426)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	enzyme binding (GO:0019899)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|Rac GTPase binding (GO:0048365)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TGTCGCCGGGCTCGATGCGGC	0.672																																					p.E296D		.											.	DVL1-658	0			c.G888T						.						36.0	43.0	40.0					1																	1275439		2201	4298	6499	SO:0001583	missense	1855	exon8			GCCGGGCTCGATG	AF006011	CCDS22.1	1p36	2013-05-22	2013-05-22		ENSG00000107404	ENSG00000107404		"""Dishevelled homologs"""	3084	protein-coding gene	gene with protein product		601365	"""dishevelled 1 (homologous to Drosophila dsh)"", ""dishevelled, dsh homolog 1 (Drosophila)"""			8817329	Standard	NM_004421		Approved		uc001aer.4	O14640	OTTHUMG00000003069	ENST00000378888.5:c.888G>T	1.37:g.1275439C>A	ENSP00000368166:p.Glu296Asp	84	0		143	63	NM_004421	0	0	75	136	61	Q5TA33|Q5TA35	Missense_Mutation	SNP	ENST00000378888.5	37		.	.	.	.	.	.	.	.	.	.	C	10.40	1.339581	0.24339	.	.	ENSG00000107404	ENST00000378891;ENST00000378888	T;T	0.29397	1.57;1.57	3.43	1.51	0.23008	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.46946	0.1419	M	0.62016	1.91	0.80722	D	1	D;B	0.63046	0.992;0.198	D;B	0.76071	0.987;0.316	T	0.38222	-0.9671	10	0.87932	D	0	.	8.4621	0.32934	0.0:0.6515:0.0:0.3485	.	296;296	O14640;O14640-2	DVL1_HUMAN;.	D	296	ENSP00000368169:E296D;ENSP00000368166:E296D	ENSP00000368166:E296D	E	-	3	2	DVL1	1265302	0.937000	0.31787	0.954000	0.39281	0.067000	0.16453	0.050000	0.14120	0.281000	0.22233	0.456000	0.33151	GAG	.		0.672	DVL1-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000008490.1	NM_004421	
CALML6	163688	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	1848206	1848206	+	Missense_Mutation	SNP	A	A	T	rs200415259		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:1848206A>T	ENST00000307786.3	+	4	723	c.269A>T	c.(268-270)aAc>aTc	p.N90I	CALML6_ENST00000462293.1_3'UTR	NM_138705.2	NP_619650.2	Q8TD86	CALL6_HUMAN	calmodulin-like 6	90	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2)	7	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.94e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.83e-23)|GBM - Glioblastoma multiforme(42;3.23e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		GGGTTCTTCAACTGCGATGGT	0.587																																					p.N90I		.											.	CALML6-90	0			c.A269T						.						122.0	138.0	132.0					1																	1848206		2203	4300	6503	SO:0001583	missense	163688	exon4			TCTTCAACTGCGA	AF490905	CCDS30566.1	1p36.33	2013-01-10			ENSG00000169885	ENSG00000169885		"""EF-hand domain containing"""	24193	protein-coding gene	gene with protein product		610171					Standard	NM_138705		Approved	CAGLP	uc001aih.1	Q8TD86	OTTHUMG00000000943	ENST00000307786.3:c.269A>T	1.37:g.1848206A>T	ENSP00000304643:p.Asn90Ile	146	0		219	92	NM_138705	0	0	0	0	0	A2A2M3|Q6Q2C4	Missense_Mutation	SNP	ENST00000307786.3	37	CCDS30566.1	.	.	.	.	.	.	.	.	.	.	.	13.11	2.140390	0.37825	.	.	ENSG00000169885	ENST00000307786;ENST00000378604	T;T	0.80033	-1.33;-1.33	3.25	2.11	0.27256	EF-hand-like domain (1);	.	.	.	.	D	0.88518	0.6458	M	0.90483	3.12	0.30199	N	0.798745	D	0.71674	0.998	D	0.65874	0.939	T	0.82161	-0.0594	9	0.87932	D	0	.	5.0679	0.14591	0.8563:0.0:0.1437:0.0	.	90	Q8TD86	CALL6_HUMAN	I	90;73	ENSP00000304643:N90I;ENSP00000367867:N73I	ENSP00000304643:N90I	N	+	2	0	CALML6	1838066	0.069000	0.21087	0.783000	0.31826	0.604000	0.37047	1.184000	0.32053	0.464000	0.27142	0.402000	0.26972	AAC	A|0.999;C|0.000		0.587	CALML6-004	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276929.1	NM_138705	
GABRD	2563	broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	1959038	1959038	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:1959038G>A	ENST00000378585.4	+	5	576	c.493G>A	c.(493-495)Gac>Aac	p.D165N		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	165					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	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)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TGTGGCCTGCGACATGGACCT	0.622																																					p.D165N		.											.	GABRD-92	0			c.G493A						.						121.0	89.0	100.0					1																	1959038		2201	4299	6500	SO:0001583	missense	2563	exon5			GCCTGCGACATGG	BC033801	CCDS36.1	1p36.3	2012-06-22			ENSG00000187730	ENSG00000187730		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4084	protein-coding gene	gene with protein product	"""GABA(A) receptor, delta"""	137163				2176788, 10965146	Standard	NM_000815		Approved		uc001aip.2	O14764	OTTHUMG00000041064	ENST00000378585.4:c.493G>A	1.37:g.1959038G>A	ENSP00000367848:p.Asp165Asn	163	1		244	110	NM_000815	0	0	11	11	0	Q8N4N9	Missense_Mutation	SNP	ENST00000378585.4	37	CCDS36.1	.	.	.	.	.	.	.	.	.	.	G	4.482	0.089322	0.08632	.	.	ENSG00000187730	ENST00000378585	T	0.78816	-1.21	4.26	3.33	0.38152	Neurotransmitter-gated ion-channel ligand-binding (3);Neurotransmitter-gated ion-channel, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.69278	0.3093	N	0.04320	-0.23	0.54753	D	0.999982	D	0.89917	1.0	D	0.85130	0.997	T	0.65405	-0.6176	10	0.02654	T	1	-6.078	12.8392	0.57790	0.0:0.0:0.8354:0.1646	.	165	O14764	GBRD_HUMAN	N	165	ENSP00000367848:D165N	ENSP00000367848:D165N	D	+	1	0	GABRD	1948898	1.000000	0.71417	0.944000	0.38274	0.021000	0.10359	5.386000	0.66238	1.134000	0.42165	-0.181000	0.13052	GAC	.		0.622	GABRD-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098493.1	NM_000815	
PEX10	5192	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	2341850	2341850	+	Silent	SNP	C	C	T	rs375325159		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:2341850C>T	ENST00000447513.2	-	2	221	c.153G>A	c.(151-153)ctG>ctA	p.L51L	PEX10_ENST00000288774.3_Silent_p.L51L|PEX10_ENST00000507596.1_Silent_p.L51L|PEX10_ENST00000515760.1_5'Flank	NM_002617.3	NP_002608.1	O60683	PEX10_HUMAN	peroxisomal biogenesis factor 10	51					peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)	integral component of peroxisomal membrane (GO:0005779)|intracellular (GO:0005622)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	7	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00102)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0169)|Lung(427;0.199)		CATCTGAGAGCAGCTCAACCT	0.592																																					p.L51L	GBM(12;9 508 1649 13619)	.											.	PEX10-90	0			c.G153A						.						113.0	94.0	101.0					1																	2341850		2203	4300	6503	SO:0001819	synonymous_variant	5192	exon2			TGAGAGCAGCTCA	AF060502	CCDS41.1, CCDS44045.1	1p36.32	2013-01-09	2008-08-26		ENSG00000157911	ENSG00000157911		"""RING-type (C3HC4) zinc fingers"""	8851	protein-coding gene	gene with protein product		602859	"""peroxisome biogenesis factor 10"""			9683594	Standard	NM_002617		Approved	RNF69	uc001ajg.3	O60683	OTTHUMG00000001637	ENST00000447513.2:c.153G>A	1.37:g.2341850C>T		151	0		208	98	NM_002617	0	0	11	18	7	B3KWD8|Q5T095|Q9BW90	Silent	SNP	ENST00000447513.2	37	CCDS44045.1																																																																																			.		0.592	PEX10-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367454.1	NM_153818	
MMEL1	79258	broad.mit.edu;bcgsc.ca;mdanderson.org	37	1	2522472	2522472	+	Missense_Mutation	SNP	C	C	T	rs199926063		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:2522472C>T	ENST00000378412.3	-	24	2458	c.2297G>A	c.(2296-2298)cGg>cAg	p.R766Q	FAM213B_ENST00000378425.5_3'UTR|FAM213B_ENST00000378424.4_3'UTR|MMEL1_ENST00000288709.6_Missense_Mutation_p.R757Q|FAM213B_ENST00000444521.2_3'UTR|MMEL1_ENST00000502556.1_Missense_Mutation_p.R609Q|FAM213B_ENST00000484099.1_3'UTR|FAM213B_ENST00000419916.2_3'UTR			Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	766						endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		GGGGGTGCCCCGGGCACAGTG	0.682																																					p.R766Q		.											.	MMEL1-90	0			c.G2297A						.						33.0	38.0	36.0					1																	2522472		2201	4299	6500	SO:0001583	missense	79258	exon24			GTGCCCCGGGCAC	AF336981	CCDS30569.1, CCDS30569.2	1p36	2008-02-05			ENSG00000142606	ENSG00000142606			14668	protein-coding gene	gene with protein product			"""membrane metallo-endopeptidase-like 2"""	MMEL2			Standard	NM_033467		Approved	SEP, NL1, NL2, NEPII	uc001ajy.2	Q495T6	OTTHUMG00000000846	ENST00000378412.3:c.2297G>A	1.37:g.2522472C>T	ENSP00000367668:p.Arg766Gln	52	1		175	73	NM_033467	0	0	5	18	13	B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9	Missense_Mutation	SNP	ENST00000378412.3	37	CCDS30569.2	.	.	.	.	.	.	.	.	.	.	C	4.444	0.082136	0.08533	.	.	ENSG00000142606	ENST00000378411;ENST00000288709;ENST00000378412;ENST00000502556	D;D;D	0.90504	-2.68;-2.68;-2.68	4.53	-9.06	0.00727	Peptidase M13, neprilysin, C-terminal (1);Metallopeptidase, catalytic domain (1);	1.075740	0.07212	N	0.859327	T	0.77824	0.4188	N	0.16903	0.455	0.09310	N	1	B	0.06786	0.001	B	0.13407	0.009	T	0.63545	-0.6613	10	0.16896	T	0.51	-0.0673	9.1521	0.36969	0.0:0.2028:0.3243:0.4728	.	766	Q495T6	MMEL1_HUMAN	Q	609;757;766;609	ENSP00000288709:R757Q;ENSP00000367668:R766Q;ENSP00000422492:R609Q	ENSP00000288709:R757Q	R	-	2	0	MMEL1	2512332	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-2.250000	0.01187	-3.093000	0.00247	-2.183000	0.00315	CGG	.		0.682	MMEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002395.2	NM_033467	
ARHGEF16	27237	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	3380095	3380095	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:3380095G>A	ENST00000378378.4	+	2	852	c.447G>A	c.(445-447)ctG>ctA	p.L149L	ARHGEF16_ENST00000378373.1_5'Flank	NM_014448.3	NP_055263.2	Q5VV41	ARHGG_HUMAN	Rho guanine nucleotide exchange factor (GEF) 16	149					activation of Cdc42 GTPase activity (GO:0032864)|activation of Rac GTPase activity (GO:0032863)|apoptotic signaling pathway (GO:0097190)|cell chemotaxis (GO:0060326)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	PDZ domain binding (GO:0030165)|receptor tyrosine kinase binding (GO:0030971)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		GGCGGAACCTGCGGAACCAAT	0.672																																					p.L149L		.											.	ARHGEF16-228	0			c.G447A						.						14.0	19.0	17.0					1																	3380095		691	1587	2278	SO:0001819	synonymous_variant	27237	exon2			GAACCTGCGGAAC	D89016	CCDS46.2	1p36.3	2013-01-10	2010-04-13		ENSG00000130762	ENSG00000130762		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	15515	protein-coding gene	gene with protein product	"""putative neuroblastoma protein"""						Standard	NM_014448		Approved	NBR, GEF16	uc001akg.4	Q5VV41	OTTHUMG00000000625	ENST00000378378.4:c.447G>A	1.37:g.3380095G>A		239	0		354	161	NM_014448	0	0	1	1	0	Q86TF0|Q99434	Silent	SNP	ENST00000378378.4	37	CCDS46.2																																																																																			.		0.672	ARHGEF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001515.1	NM_014448	
CCDC27	148870	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	3672052	3672052	+	Missense_Mutation	SNP	G	G	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:3672052G>T	ENST00000294600.2	+	3	558	c.474G>T	c.(472-474)gaG>gaT	p.E158D		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	158										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		TGTCCGGAGAGATTGACAACA	0.597																																					p.E158D		.											.	CCDC27-91	0			c.G474T						.						213.0	225.0	221.0					1																	3672052		2203	4300	6503	SO:0001583	missense	148870	exon3			CGGAGAGATTGAC		CCDS50.1	1p36.32	2008-02-05			ENSG00000162592	ENSG00000162592			26546	protein-coding gene	gene with protein product							Standard	NM_152492		Approved	FLJ32825	uc001akv.2	Q2M243	OTTHUMG00000003504	ENST00000294600.2:c.474G>T	1.37:g.3672052G>T	ENSP00000294600:p.Glu158Asp	132	0		199	82	NM_152492	0	0	0	0	0	Q5TBV3|Q96M50	Missense_Mutation	SNP	ENST00000294600.2	37	CCDS50.1	.	.	.	.	.	.	.	.	.	.	G	6.783	0.513480	0.12944	.	.	ENSG00000162592	ENST00000294600	T	0.19394	2.15	3.0	-5.18	0.02840	.	2.442680	0.01665	N	0.025326	T	0.10165	0.0249	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.24440	-1.0160	10	0.23302	T	0.38	-0.5182	11.0015	0.47609	0.102:0.6978:0.2002:0.0	.	158	Q2M243	CCD27_HUMAN	D	158	ENSP00000294600:E158D	ENSP00000294600:E158D	E	+	3	2	CCDC27	3661912	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.261000	0.02855	-1.203000	0.02652	-0.225000	0.12378	GAG	.		0.597	CCDC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009740.1	NM_152492	
C1orf174	339448	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	3807605	3807605	+	Missense_Mutation	SNP	T	T	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:3807605T>G	ENST00000361605.3	-	3	244	c.146A>C	c.(145-147)aAa>aCa	p.K49T	C1orf174_ENST00000486765.1_5'UTR	NM_207356.2	NP_997239.2	Q8IYL3	CA174_HUMAN	chromosome 1 open reading frame 174	49						nucleus (GO:0005634)				endometrium(1)|large_intestine(5)|lung(4)|prostate(1)	11	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;5.09e-25)|all_epithelial(116;9.35e-17)|all_lung(118;1.09e-06)|Lung NSC(185;0.000139)|all_neural(13;0.00287)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0219)|all_hematologic(16;0.027)|Colorectal(325;0.0276)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;1.55e-39)|OV - Ovarian serous cystadenocarcinoma(86;5.99e-23)|GBM - Glioblastoma multiforme(42;2.22e-17)|Colorectal(212;1.08e-05)|COAD - Colon adenocarcinoma(227;5.49e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000365)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.19)		GTCTGTGGCTTTGTGGGATGA	0.423																																					p.K49T		.											.	C1orf174-68	0			c.A146C						.						86.0	98.0	94.0					1																	3807605		2194	4290	6484	SO:0001583	missense	339448	exon3			GTGGCTTTGTGGG	BC035643	CCDS53.1	1p36.32	2012-07-25			ENSG00000198912	ENSG00000198912			27915	protein-coding gene	gene with protein product						12477932	Standard	NM_207356		Approved	RP13-531C17.2	uc001alf.3	Q8IYL3	OTTHUMG00000003739	ENST00000361605.3:c.146A>C	1.37:g.3807605T>G	ENSP00000355306:p.Lys49Thr	34	0		45	28	NM_207356	0	0	0	0	0	A8K0C8|A8MUG9|Q5SR20|Q6NX36	Missense_Mutation	SNP	ENST00000361605.3	37	CCDS53.1	.	.	.	.	.	.	.	.	.	.	T	13.93	2.383902	0.42308	.	.	ENSG00000198912	ENST00000361605	T	0.07567	3.18	5.27	2.91	0.33838	.	0.101468	0.64402	D	0.000004	T	0.20088	0.0483	L	0.57536	1.79	0.37534	D	0.918045	D	0.76494	0.999	D	0.73708	0.981	T	0.01688	-1.1295	10	0.72032	D	0.01	-14.7494	7.1762	0.25747	0.0:0.1904:0.0:0.8096	.	49	Q8IYL3	CA174_HUMAN	T	49	ENSP00000355306:K49T	ENSP00000355306:K49T	K	-	2	0	C1orf174	3797465	1.000000	0.71417	0.874000	0.34290	0.275000	0.26752	1.280000	0.33202	0.307000	0.22880	-0.464000	0.05259	AAA	.		0.423	C1orf174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010539.1	NM_207356	
RPL22	6146	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	6257785	6257785	+	Frame_Shift_Del	DEL	T	T	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:6257785delT	ENST00000234875.4	-	2	82	c.44delA	c.(43-45)aagfs	p.K16fs	RPL22_ENST00000484532.1_5'UTR|RPL22_ENST00000497965.1_5'UTR	NM_000983.3	NP_000974.1	P35268	RL22_HUMAN	ribosomal protein L22	16					alpha-beta T cell differentiation (GO:0046632)|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)|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 large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	heparin binding (GO:0008201)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.K15fs*5(1)		kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	Ovarian(185;0.0634)	all_cancers(23;2.78e-38)|all_epithelial(116;8.88e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.53e-38)|GBM - Glioblastoma multiforme(13;3.33e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.8e-19)|Colorectal(212;6.8e-08)|COAD - Colon adenocarcinoma(227;8.04e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		AACTTGCTTCTTTTTTTTGCC	0.398			T	RUNX1	"""AML, CML"""																																p.K15fs		.		Dom	yes		1	1p36.31	6146	ribosomal protein L22 (EAP)		L	.	RPL22-650	1	Deletion - Frameshift(1)	large_intestine(1)	c.44delA						.						62.0	55.0	57.0					1																	6257785		2203	4300	6503	SO:0001589	frameshift_variant	6146	exon2			TGCTTCTTTTTTT	BC058887	CCDS58.1	1p36.31	2011-04-06			ENSG00000116251	ENSG00000116251		"""L ribosomal proteins"""	10315	protein-coding gene	gene with protein product		180474				8395054	Standard	NM_000983		Approved	EAP, L22	uc001amd.3	P35268	OTTHUMG00000000953	ENST00000234875.4:c.44delA	1.37:g.6257785delT	ENSP00000346088:p.Lys16fs	24	0		44	20	NM_000983	0	0	0	0	0	B2R495|Q6IBD1	Frame_Shift_Del	DEL	ENST00000234875.4	37	CCDS58.1																																																																																			.		0.398	RPL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002830.1	NM_000983	
NOL9	79707	hgsc.bcm.edu	37	1	6614415	6614415	+	Missense_Mutation	SNP	A	A	G	rs6693400	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:6614415A>G	ENST00000377705.5	-	1	180	c.148T>C	c.(148-150)Tgg>Cgg	p.W50R	TAS1R1_ENST00000328191.4_5'Flank|TAS1R1_ENST00000351136.3_5'Flank|TAS1R1_ENST00000333172.6_5'Flank	NM_024654.4	NP_078930	Q5SY16	NOL9_HUMAN	nucleolar protein 9	50			W -> R (in dbSNP:rs6693400). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		maturation of 5.8S rRNA (GO:0000460)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|polynucleotide 5'-hydroxyl-kinase activity (GO:0051731)|RNA binding (GO:0003723)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1)	19	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		AGTAACCGCCACCGTAGGCGC	0.781													G|||	4907	0.979832	0.9281	0.9914	5008	,	,		8643	1.0		1.0	False		,,,				2504	1.0				p.W50R		.											.	NOL9-515	0			c.T148C						.	G	ARG/TRP	1625,149		742,141,4	2.0	3.0	3.0		148	4.0	0.8	1	dbSNP_116	3	3888,4		1942,4,0	no	missense	NOL9	NM_024654.4	101	2684,145,4	GG,GA,AA		0.1028,8.3991,2.7003	benign	50/703	6614415	5513,153	887	1946	2833	SO:0001583	missense	79707	exon1			ACCGCCACCGTAG	AK091284	CCDS80.1	1p36.31	2012-05-02			ENSG00000162408	ENSG00000162408			26265	protein-coding gene	gene with protein product	"""polynucleotide 5'-kinase"""					21063389	Standard	NM_024654		Approved	FLJ23323, NET6, Grc3	uc001ans.3	Q5SY16	OTTHUMG00000000904	ENST00000377705.5:c.148T>C	1.37:g.6614415A>G	ENSP00000366934:p.Trp50Arg	0	0		4	4	NM_024654	0	0	0	0	0	Q2NL84|Q4VBY3|Q6P472|Q7L4D6|Q96EE0|Q9H5L4	Missense_Mutation	SNP	ENST00000377705.5	37	CCDS80.1	2140	0.9798534798534798	452	0.9186991869918699	358	0.988950276243094	572	1.0	758	1.0	G	0.460	-0.889729	0.02511	0.916009	0.998972	ENSG00000162408	ENST00000377705	T	0.14516	2.5	4.0	4.0	0.46444	.	0.198450	0.25411	N	0.030874	T	0.00012	0.0000	N	0.01576	-0.805	0.58432	P	1.999999999946489E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.38972	-0.9636	9	0.02654	T	1	-21.655	7.9426	0.29967	0.1142:0.0:0.8858:0.0	rs6693400;rs57411617	50	Q5SY16	NOL9_HUMAN	R	50	ENSP00000366934:W50R	ENSP00000366934:W50R	W	-	1	0	NOL9	6537002	0.793000	0.28825	0.806000	0.32338	0.033000	0.12548	0.756000	0.26419	1.042000	0.40150	-0.282000	0.10007	TGG	A|0.020;G|0.980		0.781	NOL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002625.1	NM_024654	
DNAJC11	55735	broad.mit.edu	37	1	6727803	6727804	+	Frame_Shift_Del	DEL	TC	TC	-	rs374290353		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:6727803_6727804delTC	ENST00000377577.5	-	4	466_467	c.343_344delGA	c.(343-345)gaafs	p.E116fs	DNAJC11_ENST00000349363.6_Frame_Shift_Del_p.E78fs|DNAJC11_ENST00000294401.7_Frame_Shift_Del_p.E116fs|DNAJC11_ENST00000542246.1_Frame_Shift_Del_p.E78fs|DNAJC11_ENST00000377573.5_Frame_Shift_Del_p.E26fs	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	116						extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		TCTCCTCTCTTCTCTCTCTCTC	0.505																																					p.115_115del		.											.	DNAJC11-652	0			c.343_344del						.																																			SO:0001589	frameshift_variant	55735	exon4			CTCTCTTCTCTCT	AF306695	CCDS87.1	1p36.23	2011-09-02			ENSG00000007923	ENSG00000007923		"""Heat shock proteins / DNAJ (HSP40)"""	25570	protein-coding gene	gene with protein product		614827				12964007	Standard	NM_018198		Approved	FLJ10737	uc001aof.2	Q9NVH1	OTTHUMG00000001443	ENST00000377577.5:c.343_344delGA	1.37:g.6727813_6727814delTC	ENSP00000366800:p.Glu116fs	186	0		258	7	NM_018198	0	0	0	0	0	Q4VWF5|Q5VZN0|Q6PK20|Q6PK70|Q8NDM2|Q96CL7	Frame_Shift_Del	DEL	ENST00000377577.5	37	CCDS87.1																																																																																			.		0.505	DNAJC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004216.3	NM_018198	
CAMTA1	23261	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	7721841	7721841	+	Silent	SNP	G	G	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:7721841G>C	ENST00000303635.7	+	8	927	c.720G>C	c.(718-720)gtG>gtC	p.V240V	CAMTA1_ENST00000439411.2_Silent_p.V240V	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	240					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GCTTCTCGGTGGAACAGCTGG	0.652			T	WWTR1	epitheliod hemangioendothelioma																																p.V240V		.		Dom	yes		1	1p36.31-p36.23	611501	calmodulin binding transcription activator 1		M	.	CAMTA1-520	0			c.G720C						.						69.0	63.0	65.0					1																	7721841		2203	4300	6503	SO:0001819	synonymous_variant	23261	exon8			CTCGGTGGAACAG	AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.720G>C	1.37:g.7721841G>C		324	0		525	235	NM_015215	0	0	2	2	0	A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Silent	SNP	ENST00000303635.7	37	CCDS30576.1																																																																																			.		0.652	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215	
VAMP3	9341	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	7837354	7837354	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:7837354G>A	ENST00000054666.6	+	3	322	c.207G>A	c.(205-207)agG>agA	p.R69R	RP3-467L1.6_ENST00000602406.1_RNA|VAMP3_ENST00000470357.1_Silent_p.R41R	NM_004781.3	NP_004772.1	Q15836	VAMP3_HUMAN	vesicle-associated membrane protein 3	69	v-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00290}.				calcium ion-dependent exocytosis (GO:0017156)|exocytosis (GO:0006887)|Golgi to plasma membrane protein transport (GO:0043001)|membrane fusion (GO:0061025)|positive regulation of receptor recycling (GO:0001921)|protein complex assembly (GO:0006461)|retrograde transport, endosome to Golgi (GO:0042147)|SNARE complex assembly (GO:0035493)|substrate adhesion-dependent cell spreading (GO:0034446)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cell surface (GO:0009986)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|secretory granule (GO:0030141)|SNARE complex (GO:0031201)|synapse (GO:0045202)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	6	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;6.33e-69)|GBM - Glioblastoma multiforme(8;2.07e-34)|Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.38e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000805)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		AGTTGAAGAGGAAATATTGGT	0.443																																					p.R69R		.											.	VAMP3-90	0			c.G207A						.						84.0	83.0	83.0					1																	7837354		2203	4300	6503	SO:0001819	synonymous_variant	9341	exon3			GAAGAGGAAATAT	BC003570	CCDS88.1	1p36.23	2013-02-13	2012-10-17		ENSG00000049245	ENSG00000049245		"""Vesicle-associated membrane proteins"""	12644	protein-coding gene	gene with protein product	"""cellubrevin"""	603657				9885218	Standard	NM_004781		Approved	CEB	uc001aol.3	Q15836	OTTHUMG00000001225	ENST00000054666.6:c.207G>A	1.37:g.7837354G>A		126	0		161	58	NM_004781	0	0	106	231	125	Q9BRV4	Silent	SNP	ENST00000054666.6	37	CCDS88.1																																																																																			.		0.443	VAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003625.1	NM_004781	
PER3	8863	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	7887208	7887208	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:7887208C>T	ENST00000361923.2	+	17	2370	c.2195C>T	c.(2194-2196)gCc>gTc	p.A732V	RP3-467L1.4_ENST00000451646.1_RNA|PER3_ENST00000377532.3_Missense_Mutation_p.A740V	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	732	CSNK1E binding domain. {ECO:0000250}.				circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)	p.G733fs*115(1)		breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		ACGCGGTCGGCCGGCTGCAGG	0.552																																					p.A732V		.											.	PER3-93	1	Deletion - Frameshift(1)	pancreas(1)	c.C2195T						.						15.0	19.0	17.0					1																	7887208		2094	4164	6258	SO:0001583	missense	8863	exon17			GGTCGGCCGGCTG	BC026102	CCDS89.1, CCDS72695.1	1p36.23	2012-12-13	2012-12-13		ENSG00000049246	ENSG00000049246			8847	protein-coding gene	gene with protein product		603427	"""period (Drosophila) homolog 3"", ""period homolog 3 (Drosophila)"""			9427249	Standard	XM_005263520		Approved		uc001aoo.3	P56645	OTTHUMG00000001216	ENST00000361923.2:c.2195C>T	1.37:g.7887208C>T	ENSP00000355031:p.Ala732Val	86	0		196	104	NM_016831	0	0	5	14	9	Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Missense_Mutation	SNP	ENST00000361923.2	37	CCDS89.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.491500	0.64074	.	.	ENSG00000049246	ENST00000377532;ENST00000361923	T;T	0.11063	2.81;2.81	4.11	4.11	0.48088	.	50.171600	0.00397	N	0.000046	T	0.25827	0.0629	M	0.66939	2.045	0.09310	N	1	P;D;D;P	0.58268	0.919;0.969;0.982;0.919	B;B;P;B	0.49887	0.253;0.421;0.625;0.253	T	0.35126	-0.9801	10	0.37606	T	0.19	.	13.6787	0.62469	0.0:1.0:0.0:0.0	.	732;740;740;732	A2I2N5;A6H8X0;P56645-2;P56645	.;.;.;PER3_HUMAN	V	740;732	ENSP00000366755:A740V;ENSP00000355031:A732V	ENSP00000355031:A732V	A	+	2	0	PER3	7809795	0.046000	0.20272	0.004000	0.12327	0.015000	0.08874	1.548000	0.36201	2.133000	0.65898	0.561000	0.74099	GCC	.		0.552	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000003607.1	NM_016831	
ERRFI1	54206	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	8074279	8074279	+	Missense_Mutation	SNP	G	G	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:8074279G>C	ENST00000377482.5	-	4	603	c.380C>G	c.(379-381)aCc>aGc	p.T127S	ERRFI1_ENST00000474874.1_Intron|ERRFI1_ENST00000467067.1_3'UTR|ERRFI1_ENST00000469499.1_3'UTR	NM_018948.3	NP_061821.1	Q9UJM3	ERRFI_HUMAN	ERBB receptor feedback inhibitor 1	127					lung alveolus development (GO:0048286)|lung epithelium development (GO:0060428)|lung vasculature development (GO:0060426)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of protein autophosphorylation (GO:0031953)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of keratinocyte differentiation (GO:0045616)|response to stress (GO:0006950)|skin morphogenesis (GO:0043589)	cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		CAGTGGAGGGGTGGAAGCACA	0.488																																					p.T127S		.											.	ERRFI1-91	0			c.C380G						.						110.0	113.0	112.0					1																	8074279		2203	4300	6503	SO:0001583	missense	54206	exon4			GGAGGGGTGGAAG	BC025337	CCDS94.1	1p36.23	2008-02-05			ENSG00000116285	ENSG00000116285			18185	protein-coding gene	gene with protein product		608069				10749885, 2780291, 12226756, 11003669	Standard	NM_018948		Approved	MIG-6, GENE-33, RALT	uc001aoz.3	Q9UJM3	OTTHUMG00000001221	ENST00000377482.5:c.380C>G	1.37:g.8074279G>C	ENSP00000366702:p.Thr127Ser	65	0		86	48	NM_018948	0	0	16	30	14	B2RDX9|Q9NTG9|Q9UD05	Missense_Mutation	SNP	ENST00000377482.5	37	CCDS94.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.109845	0.37242	.	.	ENSG00000116285	ENST00000377482	T	0.72051	-0.62	5.46	4.54	0.55810	.	0.470703	0.19770	N	0.106458	T	0.57695	0.2071	N	0.22421	0.69	0.47547	D	0.999455	B	0.12630	0.006	B	0.10450	0.005	T	0.50566	-0.8813	10	0.25751	T	0.34	-1.0113	15.2845	0.73816	0.0:0.1407:0.8593:0.0	.	127	Q9UJM3	ERRFI_HUMAN	S	127	ENSP00000366702:T127S	ENSP00000366702:T127S	T	-	2	0	ERRFI1	7996866	0.876000	0.30132	0.010000	0.14722	0.324000	0.28378	3.252000	0.51461	1.259000	0.44117	0.655000	0.94253	ACC	.		0.488	ERRFI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003617.1	NM_018948	
TMEM201	199953	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	9657097	9657097	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:9657097G>A	ENST00000340381.6	+	3	424	c.415G>A	c.(415-417)Gct>Act	p.A139T	TMEM201_ENST00000377376.4_Missense_Mutation_p.A139T|TMEM201_ENST00000340305.5_Missense_Mutation_p.A139T	NM_001130924.2	NP_001124396.2	Q5SNT2	TM201_HUMAN	transmembrane protein 201	139					fibroblast migration (GO:0010761)|nuclear migration (GO:0007097)	integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)				lung(3)|upper_aerodigestive_tract(1)	4	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)		GGCCGCCTTCGCTCCCCGCGA	0.677																																					p.A139T		.											.	TMEM201-68	0			c.G415A						.						43.0	45.0	44.0					1																	9657097		2203	4300	6503	SO:0001583	missense	199953	exon3			GCCTTCGCTCCCC		CCDS30579.1, CCDS44055.1, CCDS44055.2	1p36.22	2009-11-06			ENSG00000188807	ENSG00000188807			33719	protein-coding gene	gene with protein product							Standard	NM_001130924		Approved	RP13-15M17.2, NET5	uc021ofy.1	Q5SNT2	OTTHUMG00000057457	ENST00000340381.6:c.415G>A	1.37:g.9657097G>A	ENSP00000344503:p.Ala139Thr	150	0		308	112	NM_001010866	0	0	7	15	8	B9EH90|Q5SNT3	Missense_Mutation	SNP	ENST00000340381.6	37	CCDS44055.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.777|3.777	-0.046440|-0.046440	0.07407|0.07407	.|.	.|.	ENSG00000188807|ENSG00000188807	ENST00000377376;ENST00000340305;ENST00000340381|ENST00000416541	.|.	.|.	.|.	5.13|5.13	-3.64|-3.64	0.04515|0.04515	.|.	0.809644|.	0.11508|.	N|.	0.556947|.	T|T	0.13114|0.13114	0.0318|0.0318	N|N	0.04508|0.04508	-0.205|-0.205	0.09310|0.09310	N|N	1|1	B;B|.	0.17852|.	0.024;0.0|.	B;B|.	0.14023|.	0.01;0.001|.	T|T	0.29761|0.29761	-1.0001|-1.0001	9|5	0.09338|.	T|.	0.73|.	-1.7236|-1.7236	6.2115|6.2115	0.20631|0.20631	0.2211:0.0:0.1707:0.6082|0.2211:0.0:0.1707:0.6082	.|.	139;139|.	E9PBR6;Q5SNT2-2|.	.;.|.	T|H	139|48	.|.	ENSP00000344772:A139T|.	A|R	+|+	1|2	0|0	TMEM201|TMEM201	9579684|9579684	0.001000|0.001000	0.12720|0.12720	0.037000|0.037000	0.18230|0.18230	0.414000|0.414000	0.31173|0.31173	-0.007000|-0.007000	0.12810|0.12810	-0.692000|-0.692000	0.05128|0.05128	-0.397000|-0.397000	0.06425|0.06425	GCT|CGC	.		0.677	TMEM201-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127672.1	NM_001010866	
UBE4B	10277	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	10190785	10190785	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:10190785G>A	ENST00000253251.8	+	13	2277	c.1438G>A	c.(1438-1440)Gaa>Aaa	p.E480K	UBE4B_ENST00000343090.6_Missense_Mutation_p.E609K|UBE4B_ENST00000377157.3_Missense_Mutation_p.E364K|UBE4B_ENST00000475795.1_3'UTR					ubiquitination factor E4B											NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		TAAAGTGGTTGAAAAATACTT	0.413																																					p.E609K		.											.	UBE4B-229	0			c.G1825A						.						150.0	154.0	152.0					1																	10190785		2203	4300	6503	SO:0001583	missense	10277	exon14			GTGGTTGAAAAAT	AF091093	CCDS110.1, CCDS41245.1	1p36.1	2013-01-28	2011-05-19		ENSG00000130939	ENSG00000130939		"""U-box domain containing"""	12500	protein-coding gene	gene with protein product		613565	"""ubiquitination factor E4B (homologous to yeast UFD2)"", ""ubiquitination factor E4B (UFD2 homolog, yeast)"""			9734811, 10089879	Standard	NM_006048		Approved	UBOX3, E4, UFD2, KIAA0684	uc001aqs.4	O95155	OTTHUMG00000001797	ENST00000253251.8:c.1438G>A	1.37:g.10190785G>A	ENSP00000253251:p.Glu480Lys	130	0		123	47	NM_001105562	0	0	0	0	0		Missense_Mutation	SNP	ENST00000253251.8	37	CCDS110.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.832338	0.91036	.	.	ENSG00000130939	ENST00000253251;ENST00000377157;ENST00000343090	T;T;T	0.45276	0.9;0.9;0.9	5.83	5.83	0.93111	Ubiquitin conjugation factor E4, core (1);	0.092616	0.85682	D	0.000000	T	0.46347	0.1388	L	0.33245	0.995	0.80722	D	1	P;B	0.49185	0.92;0.112	P;B	0.50860	0.652;0.033	T	0.12344	-1.0551	10	0.30078	T	0.28	-22.1535	20.1338	0.98010	0.0:0.0:1.0:0.0	.	609;480	O95155;O95155-2	UBE4B_HUMAN;.	K	480;364;609	ENSP00000253251:E480K;ENSP00000366362:E364K;ENSP00000343001:E609K	ENSP00000253251:E480K	E	+	1	0	UBE4B	10113372	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.823000	0.99369	2.770000	0.95276	0.655000	0.94253	GAA	.		0.413	UBE4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005017.1	NM_006048	
KIF1B	23095	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	10364624	10364624	+	Intron	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:10364624T>C	ENST00000377086.1	+	22	2317				KIF1B_ENST00000377083.1_Silent_p.C1127C|KIF1B_ENST00000377081.1_Intron|KIF1B_ENST00000263934.6_Intron|RN7SL731P_ENST00000584329.1_RNA|KIF1B_ENST00000377093.4_Silent_p.C1127C			O60333	KIF1B_HUMAN	kinesin family member 1B						anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CCAGCCACTGTAGCCAGTTTG	0.473																																					p.C1127C		.											.	KIF1B-93	0			c.T3381C						.						46.0	44.0	45.0					1																	10364624		2203	4300	6503	SO:0001627	intron_variant	23095	exon21			CCACTGTAGCCAG	AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.2115+7320T>C	1.37:g.10364624T>C		276	1		361	169	NM_183416	0	0	3	5	2	A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Silent	SNP	ENST00000377086.1	37																																																																																				.		0.473	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1		
CASZ1	54897	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	10699787	10699787	+	Missense_Mutation	SNP	A	A	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:10699787A>T	ENST00000377022.3	-	21	4809	c.4492T>A	c.(4492-4494)Tca>Aca	p.S1498T	RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	1498					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CAGCTGAGTGAGGCCTTGAAG	0.647																																					p.S1498T		.											.	CASZ1-113	0			c.T4492A						.						35.0	50.0	45.0					1																	10699787		2171	4274	6445	SO:0001583	missense	54897	exon21			TGAGTGAGGCCTT	AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"""Zinc fingers, C2H2-type"""	26002	protein-coding gene	gene with protein product	"""zinc finger protein 693"", ""survival related gene"""	609895	"""castor homolog 1, zinc finger (Drosophila)"""			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.4492T>A	1.37:g.10699787A>T	ENSP00000366221:p.Ser1498Thr	105	2		155	58	NM_001079843	0	0	1	2	1	Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Missense_Mutation	SNP	ENST00000377022.3	37	CCDS41246.1	.	.	.	.	.	.	.	.	.	.	A	4.220	0.039616	0.08148	.	.	ENSG00000130940	ENST00000377022	.	.	.	4.86	3.7	0.42460	.	0.176984	0.23861	U	0.043848	T	0.27559	0.0677	N	0.05078	-0.115	0.80722	D	1	B	0.13145	0.007	B	0.20955	0.032	T	0.07927	-1.0747	9	0.06891	T	0.86	-5.8807	11.5323	0.50618	0.8498:0.1502:0.0:0.0	.	1498	Q86V15	CASZ1_HUMAN	T	1498	.	ENSP00000366221:S1498T	S	-	1	0	CASZ1	10622374	1.000000	0.71417	0.976000	0.42696	0.977000	0.68977	4.096000	0.57734	0.669000	0.31146	0.377000	0.23210	TCA	.		0.647	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	NM_017766	
CASZ1	54897	hgsc.bcm.edu	37	1	10719929	10719929	+	Silent	SNP	C	C	T	rs530829402	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:10719929C>T	ENST00000377022.3	-	6	1487	c.1170G>A	c.(1168-1170)ccG>ccA	p.P390P	CASZ1_ENST00000478728.2_5'Flank|CASZ1_ENST00000344008.5_Silent_p.P390P	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	390	Pro-rich.				multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		TGGGGGTGGGCGGAACCTTGG	0.721													c|||	2	0.000399361	0.0008	0.0014	5008	,	,		11990	0.0		0.0	False		,,,				2504	0.0				p.P390P		.											.	CASZ1-113	0			c.G1170A						.						22.0	27.0	25.0					1																	10719929		2202	4295	6497	SO:0001819	synonymous_variant	54897	exon6			GGTGGGCGGAACC	AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"""Zinc fingers, C2H2-type"""	26002	protein-coding gene	gene with protein product	"""zinc finger protein 693"", ""survival related gene"""	609895	"""castor homolog 1, zinc finger (Drosophila)"""			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.1170G>A	1.37:g.10719929C>T		0	0		29	15	NM_001079843	0	0	1	1	0	Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Silent	SNP	ENST00000377022.3	37	CCDS41246.1																																																																																			.		0.721	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	NM_017766	
SRM	6723	broad.mit.edu;bcgsc.ca	37	1	11115019	11115019	+	Splice_Site	SNP	C	C	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:11115019C>A	ENST00000376957.2	-	7	968	c.888G>T	c.(886-888)aaG>aaT	p.K296N		NM_003132.2	NP_003123.2	P19623	SPEE_HUMAN	spermidine synthase	296					cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)	cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)|spermidine synthase activity (GO:0004766)			large_intestine(1)|lung(1)|urinary_tract(1)	3	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.228)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	S-Adenosylmethionine(DB00118)	GGCCACCCACCTTGCGGGCAA	0.662																																					p.K296N		.											.	SRM-90	0			c.G888T						.						25.0	29.0	28.0					1																	11115019		2203	4299	6502	SO:0001630	splice_region_variant	6723	exon7			ACCCACCTTGCGG	BC033106	CCDS125.1	1p36-p22	2010-11-08			ENSG00000116649	ENSG00000116649	2.5.1.16		11296	protein-coding gene	gene with protein product		182891		SRML1		2344393	Standard	NM_003132		Approved	SPS1	uc001arz.1	P19623	OTTHUMG00000002119	ENST00000376957.2:c.888+1G>T	1.37:g.11115019C>A		49	1		172	134	NM_003132	0	0	0	0	0	B1AKP9|Q15511	Missense_Mutation	SNP	ENST00000376957.2	37	CCDS125.1	.	.	.	.	.	.	.	.	.	.	C	11.66	1.704617	0.30232	.	.	ENSG00000116649	ENST00000376957	T	0.77750	-1.12	5.01	3.14	0.36123	.	0.047340	0.85682	D	0.000000	T	0.65811	0.2727	L	0.43701	1.375	0.58432	D	0.999999	B	0.30511	0.282	B	0.24006	0.05	T	0.60078	-0.7333	10	0.45353	T	0.12	.	7.9044	0.29752	0.0:0.7515:0.0:0.2485	.	296	P19623	SPEE_HUMAN	N	296	ENSP00000366156:K296N	ENSP00000366156:K296N	K	-	3	2	SRM	11037606	1.000000	0.71417	0.979000	0.43373	0.331000	0.28603	4.455000	0.60075	0.524000	0.28502	0.561000	0.74099	AAG	.		0.662	SRM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006056.1	NM_003132	Missense_Mutation
KIAA2013	90231	broad.mit.edu;mdanderson.org	37	1	11982929	11982929	+	Missense_Mutation	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:11982929T>C	ENST00000376572.3	-	2	1836	c.1651A>G	c.(1651-1653)Atc>Gtc	p.I551V	KIAA2013_ENST00000376576.3_Missense_Mutation_p.I551V	NM_138346.2	NP_612355.1	Q8IYS2	K2013_HUMAN	KIAA2013	551						integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGTGGCGTGATGGGCTGTGTC	0.627																																					p.I551V		.											.	KIAA2013-91	0			c.A1651G						.						25.0	24.0	24.0					1																	11982929		2201	4275	6476	SO:0001583	missense	90231	exon2			GCGTGATGGGCTG	AB095933	CCDS141.1	1p36.22	2011-02-09			ENSG00000116685	ENSG00000116685			28513	protein-coding gene	gene with protein product						12477932	Standard	NM_138346		Approved	MGC33867, RP5-1077B9.1	uc001atk.3	Q8IYS2	OTTHUMG00000002391	ENST00000376572.3:c.1651A>G	1.37:g.11982929T>C	ENSP00000365756:p.Ile551Val	629	1		873	242	NM_138346	0	0	90	183	93	Q5JXC1|Q8IVF8|Q8NDI7|Q9BSY1	Missense_Mutation	SNP	ENST00000376572.3	37	CCDS141.1	.	.	.	.	.	.	.	.	.	.	T	13.58	2.278390	0.40294	.	.	ENSG00000116685	ENST00000376572;ENST00000376576	.	.	.	6.06	4.87	0.63330	.	0.127056	0.52532	D	0.000074	T	0.41465	0.1160	L	0.29908	0.895	0.44899	D	0.997912	B;B	0.32526	0.323;0.374	B;B	0.39068	0.19;0.289	T	0.30650	-0.9971	9	0.30854	T	0.27	-24.895	7.7544	0.28915	0.1373:0.0:0.1433:0.7193	.	551;551	Q8IYS2-2;Q8IYS2	.;K2013_HUMAN	V	551	.	ENSP00000365756:I551V	I	-	1	0	KIAA2013	11905516	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.807000	0.55591	2.322000	0.78497	0.528000	0.53228	ATC	.		0.627	KIAA2013-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006858.1	NM_138346	
DHRS3	9249	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	12632790	12632792	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	GGA	GGA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:12632790_12632792delGGA	ENST00000376223.2	-	5	1171_1173	c.788_790delTCC	c.(787-792)ctccca>cca	p.L263del	RNU6ATAC18P_ENST00000408413.1_RNA	NM_004753.4	NP_004744.2	O75911	DHRS3_HUMAN	dehydrogenase/reductase (SDR family) member 3	263					bone morphogenesis (GO:0060349)|cardiac septum morphogenesis (GO:0060411)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|phototransduction, visible light (GO:0007603)|regulation of ossification (GO:0030278)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|photoreceptor outer segment membrane (GO:0042622)	electron carrier activity (GO:0009055)|NADP-retinol dehydrogenase activity (GO:0052650)|nucleotide binding (GO:0000166)|retinol dehydrogenase activity (GO:0004745)			cervix(1)|large_intestine(4)|lung(2)|prostate(1)|skin(1)	9	Ovarian(185;0.249)	Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419)	Vitamin A(DB00162)	ATTGTCCATGGGAGGAGGAGGAG	0.552																																					p.263_264del		.											.	DHRS3-91	0			c.788_790del						.																																			SO:0001651	inframe_deletion	9249	exon5			TCCATGGGAGGAG	AF061741	CCDS146.1	1p36.1	2011-09-20			ENSG00000162496	ENSG00000162496	1.1.-.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	17693	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 16C, member 1"""	612830				9705317, 12226107, 19027726	Standard	XM_005263533		Approved	retSDR1, Rsdr1, SDR1, RDH17, SDR16C1	uc001auc.3	O75911	OTTHUMG00000001885	ENST00000376223.2:c.788_790delTCC	1.37:g.12632799_12632801delGGA	ENSP00000365397:p.Leu263del	83	0		102	34	NM_004753	0	0	0	0	0	B2R7F3|Q5VUY3|Q6UY38|Q9BUC8	In_Frame_Del	DEL	ENST00000376223.2	37	CCDS146.1																																																																																			.		0.552	DHRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005318.1	NM_004753	
PRAMEF1	65121	bcgsc.ca	37	1	12854135	12854135	+	Nonsense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:12854135G>A	ENST00000332296.7	+	3	462	c.359G>A	c.(358-360)tGg>tAg	p.W120*	PRAMEF1_ENST00000400814.3_5'Flank	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	120					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)					cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCTGGAGCCTGGGCCCTGTCC	0.542																																					p.W120X		.											.	PRAMEF1-22	0			c.G359A						.						172.0	190.0	184.0					1																	12854135		2203	4300	6503	SO:0001587	stop_gained	65121	exon3			GAGCCTGGGCCCT	AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"""-"""	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.359G>A	1.37:g.12854135G>A	ENSP00000332134:p.Trp120*	291	5		401	143	NM_023013	0	0	0	0	0	Q9UQP2	Nonsense_Mutation	SNP	ENST00000332296.7	37	CCDS148.1	.	.	.	.	.	.	.	.	.	.	.	12.38	1.921964	0.33908	.	.	ENSG00000116721	ENST00000332296	.	.	.	1.34	-2.69	0.06022	.	6.284200	0.00166	N	0.000000	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	5.8806	0.18854	0.0:0.0:0.5642:0.4358	.	.	.	.	X	120	.	ENSP00000332134:W120X	W	+	2	0	PRAMEF1	12776722	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.603000	0.02077	-0.602000	0.05775	-0.723000	0.03601	TGG	.		0.542	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005458.1	NM_023013	
Unknown	0	ucsc.edu;bcgsc.ca;mdanderson.org	37	1	13183603	13183603	+	IGR	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:13183603C>T								RP13-221M14.3 (19135 upstream) : PRAMEF26 (32752 downstream)																							TTCCTCGGTTCACTTTTGGCT	0.493																																					p.V90V		.											.	.	0			c.G270A						.						71.0	56.0	60.0					1																	13183603		692	1591	2283	SO:0001628	intergenic_variant	0	exon2			TCGGTTCACTTTT																													1.37:g.13183603C>T		225	0		299	112	NM_001136561	0	0	0	0	0		Silent	SNP		37																																																																																				.	0	0.493								
PRAMEF18	391003	bcgsc.ca	37	1	13475084	13475084	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:13475084C>T	ENST00000376126.2	-	3	1044	c.1045G>A	c.(1045-1047)Gcc>Acc	p.A349T		NM_001099850.1	NP_001093320.1	Q5VWM3	PRA18_HUMAN	PRAME family member 18	349					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)					lung(2)|ovary(1)	3	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;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGAAGAGTGGCAGCAACTTTC	0.547																																					p.A349T		.											.	.	0			c.G1045A						.						35.0	42.0	39.0					1																	13475084		2200	4278	6478	SO:0001583	missense	645414	exon3			GAGTGGCAGCAAC			1p36.21	2013-01-17			ENSG00000204491			"""-"""	30693	protein-coding gene	gene with protein product							Standard			Approved	OTTHUMG00000002932		Q5VWM3	OTTHUMG00000002932	ENST00000376126.2:c.1045G>A	1.37:g.13475084C>T	ENSP00000365294:p.Ala349Thr	1095	3		1504	616	NM_001099790	0	0	0	0	0		Missense_Mutation	SNP	ENST00000376126.2	37	CCDS41258.1	.	.	.	.	.	.	.	.	.	.	C	16.43	3.120704	0.56613	.	.	ENSG00000204491	ENST00000376126	T	0.09350	2.99	1.52	0.562	0.17290	.	0.772554	0.12404	N	0.471918	T	0.23965	0.0580	M	0.79614	2.46	0.09310	N	1	D	0.62365	0.991	P	0.62298	0.9	T	0.08351	-1.0726	10	0.49607	T	0.09	.	3.8129	0.08804	0.0:0.752:0.0:0.248	.	349	Q5VWM3	PRA18_HUMAN	T	349	ENSP00000365294:A349T	ENSP00000365294:A349T	A	-	1	0	PRAMEF18	13347671	0.000000	0.05858	0.010000	0.14722	0.738000	0.42128	-0.370000	0.07523	0.187000	0.20147	0.195000	0.17529	GCC	.		0.547	PRAMEF18-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008177.2	NM_001099850	
AGMAT	79814	hgsc.bcm.edu	37	1	15911349	15911349	+	Silent	SNP	G	G	A	rs3737705	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:15911349G>A	ENST00000375826.3	-	1	256	c.114C>T	c.(112-114)gaC>gaT	p.D38D	RP4-680D5.2_ENST00000428945.1_RNA|DNAJC16_ENST00000483270.1_Intron	NM_024758.4	NP_079034.3	Q9BSE5	SPEB_HUMAN	agmatine ureohydrolase (agmatinase)	38					agmatine biosynthetic process (GO:0097055)|cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|putrescine biosynthetic process from arginine (GO:0033388)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	agmatinase activity (GO:0008783)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(6)|lung(2)|skin(1)	12		Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649)		TCCGGGGCGCGTCGGAAGCCT	0.791													G|||	1691	0.33766	0.2685	0.3084	5008	,	,		9254	0.5794		0.2952	False		,,,				2504	0.2464				p.D38D	NSCLC(126;1678 1780 25805 43508 49531)	.											.	AGMAT-91	0			c.C114T						.	G		446,1872		44,358,757	2.0	3.0	3.0		114	-4.1	0.0	1	dbSNP_107	3	1412,4272		187,1038,1617	no	coding-synonymous	AGMAT	NM_024758.4		231,1396,2374	AA,AG,GG		24.8417,19.2407,23.2192		38/353	15911349	1858,6144	1159	2842	4001	SO:0001819	synonymous_variant	79814	exon1			GGGCGCGTCGGAA	AY057097	CCDS160.1	1p36.13	2009-01-05			ENSG00000116771	ENSG00000116771			18407	protein-coding gene	gene with protein product						11804860, 14648699, 11914032	Standard	NM_024758		Approved	FLJ23384	uc001awv.2	Q9BSE5	OTTHUMG00000002357	ENST00000375826.3:c.114C>T	1.37:g.15911349G>A		0	0		17	10	NM_024758	0	0	0	0	0	Q5TDH1|Q9H5J3	Silent	SNP	ENST00000375826.3	37	CCDS160.1																																																																																			G|0.647;A|0.353		0.791	AGMAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006763.1	NM_024758	
SPEN	23013	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	1	16174571	16174571	+	Silent	SNP	G	G	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:16174571G>T	ENST00000375759.3	+	1	213	c.9G>T	c.(7-9)cgG>cgT	p.R3R	RP11-169K16.9_ENST00000317122.1_RNA	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GCATGGTCCGGGAAACCAGGC	0.697																																					p.R3R		.											.	SPEN-298	0			c.G9T						.						31.0	28.0	29.0					1																	16174571		2184	4275	6459	SO:0001819	synonymous_variant	23013	exon1			GGTCCGGGAAACC		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.9G>T	1.37:g.16174571G>T		82	0		221	99	NM_015001	0	0	0	0	0	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Silent	SNP	ENST00000375759.3	37	CCDS164.1																																																																																			.		0.697	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001	
SPEN	23013	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	1	16174581	16174581	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:16174581C>T	ENST00000375759.3	+	1	223	c.19C>T	c.(19-21)Cat>Tat	p.H7Y	RP11-169K16.9_ENST00000317122.1_RNA	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	7	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GGAAACCAGGCATCTCTGGGT	0.682																																					p.H7Y		.											.	SPEN-298	0			c.C19T						.						36.0	32.0	33.0					1																	16174581		2191	4286	6477	SO:0001583	missense	23013	exon1			ACCAGGCATCTCT		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.19C>T	1.37:g.16174581C>T	ENSP00000364912:p.His7Tyr	93	0		247	109	NM_015001	0	0	2	2	0	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	CCDS164.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.307305	0.40795	.	.	ENSG00000065526	ENST00000375759	T	0.05717	3.4	2.93	2.93	0.34026	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	.	.	.	.	T	0.07413	0.0187	L	0.31476	0.935	0.58432	D	0.999998	D	0.55385	0.971	P	0.45913	0.497	T	0.32798	-0.9893	9	0.66056	D	0.02	0.2138	12.6627	0.56824	0.0:1.0:0.0:0.0	.	7	Q96T58	MINT_HUMAN	Y	7	ENSP00000364912:H7Y	ENSP00000364912:H7Y	H	+	1	0	SPEN	16047168	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.003000	0.70701	1.362000	0.46000	0.305000	0.20034	CAT	.		0.682	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001	
EPHA2	1969	broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	16461615	16461615	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:16461615C>T	ENST00000358432.5	-	7	1652	c.1498G>A	c.(1498-1500)Gac>Aac	p.D500N		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	500	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	TAGGTGGTGTCTGGGGCCAGG	0.672																																					p.D500N		.											.	EPHA2-1419	0			c.G1498A						.						130.0	130.0	130.0					1																	16461615		2203	4300	6503	SO:0001583	missense	1969	exon7			TGGTGTCTGGGGC	BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3386	protein-coding gene	gene with protein product		176946	"""EphA2"""	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.1498G>A	1.37:g.16461615C>T	ENSP00000351209:p.Asp500Asn	70	2		113	52	NM_004431	0	0	1	3	2	B5A968|Q8N3Z2	Missense_Mutation	SNP	ENST00000358432.5	37	CCDS169.1	.	.	.	.	.	.	.	.	.	.	C	18.94	3.728945	0.69074	.	.	ENSG00000142627	ENST00000358432	T	0.56941	0.43	5.4	5.4	0.78164	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.242758	0.29185	N	0.012884	T	0.42988	0.1227	N	0.21583	0.68	0.39410	D	0.966749	B	0.20261	0.043	B	0.24155	0.051	T	0.35549	-0.9784	10	0.48119	T	0.1	.	16.672	0.85269	0.0:1.0:0.0:0.0	.	500	P29317	EPHA2_HUMAN	N	500	ENSP00000351209:D500N	ENSP00000351209:D500N	D	-	1	0	EPHA2	16334202	0.003000	0.15002	0.954000	0.39281	0.992000	0.81027	2.061000	0.41403	2.539000	0.85634	0.655000	0.94253	GAC	.		0.672	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1	NM_004431	
NBPF1	55672	broad.mit.edu;bcgsc.ca	37	1	16891333	16891333	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:16891333C>T	ENST00000430580.2	-	28	4032	c.3145G>A	c.(3145-3147)Ggg>Agg	p.G1049R		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	1029	NBPF 7. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		tcttcttccccttcttttctt	0.428																																					.		.											.	.	0			.						.						58.0	26.0	41.0					1																	16891333		619	665	1284	SO:0001583	missense	55672	.			CTTCCCCTTCTTT	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.3145G>A	1.37:g.16891333C>T	ENSP00000474456:p.Gly1049Arg	34	0		46	17	.	0	0	218	224	6	Q8N4E8|Q9C0H0	Missense_Mutation	SNP	ENST00000430580.2	37																																																																																				C|0.500;T|0.500		0.428	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	
PADI3	51702	broad.mit.edu	37	1	17575686	17575686	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:17575686G>A	ENST00000375460.3	+	1	94	c.54G>A	c.(52-54)gtG>gtA	p.V18V		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	18					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	CCAGCGCGGTGTGTGTGGCTG	0.607																																					p.V18V		.											.	PADI3-132	0			c.G54A						.						159.0	136.0	144.0					1																	17575686		2203	4300	6503	SO:0001819	synonymous_variant	51702	exon1			CGCGGTGTGTGTG	AB026831	CCDS179.1	1p36.13	2008-02-05			ENSG00000142619	ENSG00000142619	3.5.3.15	"""Peptidyl arginine deiminases"""	18337	protein-coding gene	gene with protein product		606755				11069618	Standard	NM_016233		Approved	PDI3	uc001bai.3	Q9ULW8	OTTHUMG00000002373	ENST00000375460.3:c.54G>A	1.37:g.17575686G>A		170	0		284	7	NM_016233	0	0	1	1	0	Q58EY7|Q70SX5	Silent	SNP	ENST00000375460.3	37	CCDS179.1																																																																																			.		0.607	PADI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006805.1		
TAS1R2	80834	broad.mit.edu	37	1	19181157	19181157	+	Silent	SNP	C	C	T	rs202163137		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:19181157C>T	ENST00000375371.3	-	3	828	c.807G>A	c.(805-807)gcG>gcA	p.A269A	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	269					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	CCACGACGCGCGCTGTGCTCT	0.622																																					p.A269A		.											.	TAS1R2-93	0			c.G807A						.						70.0	60.0	64.0					1																	19181157		2203	4300	6503	SO:0001819	synonymous_variant	80834	exon3			GACGCGCGCTGTG		CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14905	protein-coding gene	gene with protein product		606226	"""G protein-coupled receptor 71"""	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.807G>A	1.37:g.19181157C>T		127	0		219	6	NM_152232	0	0	0	0	0	Q5TZ19	Silent	SNP	ENST00000375371.3	37	CCDS187.1																																																																																			C|0.999;A|0.000		0.622	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000006953.1		
HTR6	3362	broad.mit.edu	37	1	20005583	20005583	+	Missense_Mutation	SNP	G	G	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:20005583G>T	ENST00000289753.1	+	3	1512	c.1045G>T	c.(1045-1047)Gcc>Tcc	p.A349S		NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	349					brain development (GO:0007420)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|learning (GO:0007612)|long-term synaptic potentiation (GO:0060291)|negative regulation of acetylcholine secretion, neurotransmission (GO:0014058)|negative regulation of gamma-aminobutyric acid secretion (GO:0014053)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|synaptic transmission (GO:0007268)	cilium (GO:0005929)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)|serotonin receptor activity (GO:0004993)			endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Mianserin(DB06148)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Quetiapine(DB01224)|Sertindole(DB06144)|Ziprasidone(DB00246)	GGCCAGCCTGGCCTCGCCATC	0.687																																					p.A349S	Esophageal Squamous(168;1879 2619 6848 21062)	.											.	HTR6-91	0			c.G1045T						.						30.0	34.0	33.0					1																	20005583		2201	4298	6499	SO:0001583	missense	3362	exon3			AGCCTGGCCTCGC	L41147	CCDS197.1	1p36-p35	2012-08-08	2012-02-03		ENSG00000158748	ENSG00000158748		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5301	protein-coding gene	gene with protein product		601109	"""5-hydroxytryptamine (serotonin) receptor 6"""			8522988	Standard	NM_000871		Approved	5-HT6, 5-HT6R	uc001bcl.3	P50406	OTTHUMG00000002713	ENST00000289753.1:c.1045G>T	1.37:g.20005583G>T	ENSP00000289753:p.Ala349Ser	33	3		116	20	NM_000871	0	0	8	8	0	Q13640|Q5TGZ1	Missense_Mutation	SNP	ENST00000289753.1	37	CCDS197.1	.	.	.	.	.	.	.	.	.	.	G	9.626	1.135033	0.21123	.	.	ENSG00000158748	ENST00000289753	T	0.32988	1.43	5.39	4.25	0.50352	.	0.303975	0.23513	N	0.047376	T	0.16514	0.0397	N	0.14661	0.345	0.23113	N	0.998271	P	0.45044	0.849	B	0.42738	0.396	T	0.07849	-1.0751	9	.	.	.	.	4.8529	0.13545	0.2699:0.0:0.7301:0.0	.	349	P50406	5HT6R_HUMAN	S	349	ENSP00000289753:A349S	.	A	+	1	0	HTR6	19878170	0.724000	0.28038	0.959000	0.39883	0.135000	0.20990	1.057000	0.30492	2.698000	0.92095	0.561000	0.74099	GCC	.		0.687	HTR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007704.1	NM_000871	
RAP1GAP	5909	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	21940490	21940490	+	Silent	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:21940490C>T	ENST00000374765.4	-	8	584	c.384G>A	c.(382-384)cgG>cgA	p.R128R	RAP1GAP_ENST00000542643.2_Silent_p.R128R|RAP1GAP_ENST00000290101.4_Silent_p.R192R|RAP1GAP_ENST00000374757.3_5'UTR|RAP1GAP_ENST00000374763.2_Silent_p.R128R|RAP1GAP_ENST00000374761.2_Silent_p.R159R	NM_002885.2	NP_002876.2	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	128					GTP catabolic process (GO:0006184)|positive regulation of Rap GTPase activity (GO:0032854)|regulation of Ras GTPase activity (GO:0032318)|signal transduction (GO:0007165)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|protein homodimerization activity (GO:0042803)|Rap GTPase activator activity (GO:0046582)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		TGAGCAGCAGCCGCAGGTGCT	0.557																																					p.R192R		.											.	RAP1GAP-245	0			c.G576A						.						51.0	46.0	47.0					1																	21940490		2203	4299	6502	SO:0001819	synonymous_variant	5909	exon8			CAGCAGCCGCAGG	BC054490	CCDS218.1, CCDS53276.1, CCDS53277.1	1p36.1-p35	2009-09-14	2006-04-12	2006-04-12	ENSG00000076864	ENSG00000076864			9858	protein-coding gene	gene with protein product		600278	"""RAP1, GTPase activating protein 1"""	RAP1GA1		1904317	Standard	NM_001145657		Approved	KIAA0474, RAP1GAP1, RAP1GAPII	uc001bew.3	P47736	OTTHUMG00000007513	ENST00000374765.4:c.384G>A	1.37:g.21940490C>T		111	0		121	61	NM_001145658	0	0	0	0	0	J3QSS6|O75062|Q5T3S9|Q5T3T4|Q7Z5S8|Q9UQ51	Silent	SNP	ENST00000374765.4	37	CCDS218.1																																																																																			.		0.557	RAP1GAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000019759.2	NM_002885	
EPHA8	2046	ucsc.edu;bcgsc.ca	37	1	22915595	22915595	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:22915595C>T	ENST00000166244.3	+	5	1283	c.1211C>T	c.(1210-1212)gCc>gTc	p.A404V	EPHA8_ENST00000374644.4_Missense_Mutation_p.A404V|EPHA8_ENST00000538803.1_Missense_Mutation_p.A404V	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	404	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AACCTGCTGGCCCACATGAAC	0.667																																					p.A404V		.											.	EPHA8-1380	0			c.C1211T						.						28.0	25.0	26.0					1																	22915595		2203	4298	6501	SO:0001583	missense	2046	exon5			TGCTGGCCCACAT	BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3391	protein-coding gene	gene with protein product		176945	"""EphA8"""	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.1211C>T	1.37:g.22915595C>T	ENSP00000166244:p.Ala404Val	194	3		424	186	NM_020526	0	0	0	0	0	Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Missense_Mutation	SNP	ENST00000166244.3	37	CCDS225.1	.	.	.	.	.	.	.	.	.	.	C	32	5.138914	0.94560	.	.	ENSG00000070886	ENST00000166244;ENST00000374644;ENST00000538803	T;T;T	0.58940	0.3;0.3;0.3	4.28	4.28	0.50868	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.71143	0.3305	M	0.77103	2.36	0.80722	D	1	P;P	0.52170	0.645;0.951	P;P	0.55055	0.614;0.767	T	0.76849	-0.2807	10	0.72032	D	0.01	.	15.7814	0.78264	0.0:1.0:0.0:0.0	.	404;404	P29322;P29322-2	EPHA8_HUMAN;.	V	404	ENSP00000166244:A404V;ENSP00000363775:A404V;ENSP00000440274:A404V	ENSP00000166244:A404V	A	+	2	0	EPHA8	22788182	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	5.800000	0.69108	2.381000	0.81170	0.436000	0.28706	GCC	.		0.667	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526	
EPHA8	2046	broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	22927299	22927299	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:22927299G>A	ENST00000166244.3	+	14	2606	c.2534G>A	c.(2533-2535)cGg>cAg	p.R845Q		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	845	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		ATGACCAACCGGGATGTGAGT	0.672																																					p.R845Q		.											.	EPHA8-1380	0			c.G2534A						.						73.0	83.0	80.0					1																	22927299		2203	4300	6503	SO:0001583	missense	2046	exon14			CCAACCGGGATGT	BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3391	protein-coding gene	gene with protein product		176945	"""EphA8"""	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.2534G>A	1.37:g.22927299G>A	ENSP00000166244:p.Arg845Gln	122	2		221	97	NM_020526	0	0	0	0	0	Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Missense_Mutation	SNP	ENST00000166244.3	37	CCDS225.1	.	.	.	.	.	.	.	.	.	.	g	3.594	-0.082952	0.07141	.	.	ENSG00000070886	ENST00000166244	D	0.82167	-1.58	4.92	3.01	0.34805	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.137680	0.47455	N	0.000231	T	0.58623	0.2135	N	0.11154	0.105	0.80722	D	1	D	0.54601	0.967	B	0.38194	0.267	T	0.64854	-0.6309	10	0.02654	T	1	.	9.7053	0.40211	0.1748:0.0:0.8252:0.0	.	845	P29322	EPHA8_HUMAN	Q	845	ENSP00000166244:R845Q	ENSP00000166244:R845Q	R	+	2	0	EPHA8	22799886	0.654000	0.27367	0.825000	0.32803	0.385000	0.30292	2.262000	0.43285	0.642000	0.30620	0.556000	0.70494	CGG	.		0.672	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526	
HNRNPR	10236	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	23636987	23636987	+	Missense_Mutation	SNP	T	T	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:23636987T>A	ENST00000374612.1	-	11	1985	c.1862A>T	c.(1861-1863)cAg>cTg	p.Q621L	HNRNPR_ENST00000476660.1_5'UTR|HNRNPR_ENST00000426846.2_Missense_Mutation_p.Q461L|HNRNPR_ENST00000302271.6_Missense_Mutation_p.Q621L|HNRNPR_ENST00000478691.1_Missense_Mutation_p.Q523L|HNRNPR_ENST00000606561.1_Missense_Mutation_p.Q482L|HNRNPR_ENST00000374616.3_Missense_Mutation_p.Q624L|HNRNPR_ENST00000427764.2_Missense_Mutation_p.Q583L	NM_001102398.1|NM_005826.3	NP_001095868.1|NP_005817.1	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	621	Asn/Gln-rich.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		ATAAAATTCCTGGTTGTCATT	0.438																																					p.Q624L		.											.	HNRNPR-24	0			c.A1871T						.						183.0	181.0	182.0					1																	23636987		2203	4300	6503	SO:0001583	missense	10236	exon11			AATTCCTGGTTGT	AF000364	CCDS232.1, CCDS44085.1, CCDS60020.1, CCDS72726.1, CCDS72727.1	1p36.12	2013-02-12		2007-08-16	ENSG00000125944	ENSG00000125944		"""RNA binding motif (RRM) containing"""	5047	protein-coding gene	gene with protein product		607201		HNRPR		9421497	Standard	XM_005245711		Approved	hnRNP-R	uc001bgp.4	O43390	OTTHUMG00000003224	ENST00000374612.1:c.1862A>T	1.37:g.23636987T>A	ENSP00000363741:p.Gln621Leu	62	0		71	25	NM_001102398	0	0	53	109	56	Q2L7G6|Q5TEH1|Q9BV64|S4R3J4	Missense_Mutation	SNP	ENST00000374612.1	37	CCDS232.1	.	.	.	.	.	.	.	.	.	.	T	10.50	1.368644	0.24771	.	.	ENSG00000125944	ENST00000374616;ENST00000374612;ENST00000302271;ENST00000427764;ENST00000426846	T;T;T;T;T	0.21543	2.0;2.01;2.01;2.3;2.83	5.21	5.21	0.72293	.	0.107337	0.64402	D	0.000004	T	0.18383	0.0441	L	0.31926	0.97	0.45490	D	0.998459	B;B;B;B;B;B	0.15141	0.007;0.007;0.007;0.007;0.007;0.012	B;B;B;B;B;B	0.12837	0.004;0.004;0.004;0.004;0.004;0.008	T	0.02431	-1.1160	10	0.49607	T	0.09	-1.9697	14.0543	0.64756	0.0:0.0:0.0:1.0	.	461;583;482;601;621;624	E7ETM7;Q2L7G6;B4DT28;Q6MZS5;O43390;O43390-2	.;.;.;.;HNRPR_HUMAN;.	L	624;621;621;583;461	ENSP00000363745:Q624L;ENSP00000363741:Q621L;ENSP00000304405:Q621L;ENSP00000392799:Q583L;ENSP00000415042:Q461L	ENSP00000304405:Q621L	Q	-	2	0	HNRNPR	23509574	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.961000	0.56759	2.189000	0.69895	0.528000	0.53228	CAG	.		0.438	HNRNPR-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008889.1	NM_005826	
ASAP3	55616	bcgsc.ca;mdanderson.org	37	1	23763445	23763445	+	Nonsense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:23763445G>A	ENST00000336689.3	-	15	1479	c.1435C>T	c.(1435-1437)Cag>Tag	p.Q479*	ASAP3_ENST00000437606.2_Nonsense_Mutation_p.Q470*|ASAP3_ENST00000495646.1_5'Flank	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	479	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				cell migration (GO:0016477)|positive regulation of ARF GTPase activity (GO:0032850)|regulation of stress fiber assembly (GO:0051492)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						GTGAGTGACTGCATGCGCGAA	0.657																																					p.Q479X		.											.	ASAP3-155	0			c.C1435T						.						20.0	21.0	21.0					1																	23763445		2201	4297	6498	SO:0001587	stop_gained	55616	exon15			GTGACTGCATGCG	AK000206	CCDS235.1, CCDS44087.1	1p36.13	2013-01-10	2008-10-09	2008-09-22	ENSG00000088280	ENSG00000088280		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	14987	protein-coding gene	gene with protein product	"""centaurin, beta 6"""		"""development and differentiation enhancing factor-like 1"""	DDEFL1		14654939	Standard	NM_017707		Approved	FLJ20199, UPLC1, CENTB6	uc001bha.2	Q8TDY4	OTTHUMG00000003234	ENST00000336689.3:c.1435C>T	1.37:g.23763445G>A	ENSP00000338769:p.Gln479*	97	2		165	75	NM_017707	0	0	1	1	0	B3KRW0|B4DHH4|Q6P9F4|Q86UY1|Q9NXK2	Nonsense_Mutation	SNP	ENST00000336689.3	37	CCDS235.1	.	.	.	.	.	.	.	.	.	.	G	38	7.022560	0.98010	.	.	ENSG00000088280	ENST00000538685;ENST00000336689;ENST00000437606	.	.	.	4.53	4.53	0.55603	.	0.145168	0.46442	D	0.000284	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.3635	0.83296	0.0:0.0:1.0:0.0	.	.	.	.	X	2;479;470	.	ENSP00000338769:Q479X	Q	-	1	0	ASAP3	23636032	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.563000	0.98148	2.512000	0.84698	0.471000	0.43371	CAG	.		0.657	ASAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008916.2	NM_017707	
MYOM3	127294	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	24417405	24417405	+	Silent	SNP	G	G	A	rs201898557	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:24417405G>A	ENST00000374434.3	-	12	1476	c.1314C>T	c.(1312-1314)gtC>gtT	p.V438V	MYOM3_ENST00000330966.7_Silent_p.V439V|MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000329601.7_Silent_p.V438V	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	438	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.					M band (GO:0031430)	protein homodimerization activity (GO:0042803)	p.V438V(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TCTGACCTTCGACGAGGCCTT	0.632													G|||	2	0.000399361	0.0015	0.0	5008	,	,		16871	0.0		0.0	False		,,,				2504	0.0				p.V438V		.											.	MYOM3-93	1	Substitution - coding silent(1)	endometrium(1)	c.C1314T						.	G		13,4147		0,13,2067	102.0	112.0	109.0		1314	-10.6	0.0	1		109	0,8404		0,0,4202	no	coding-synonymous	MYOM3	NM_152372.3		0,13,6269	AA,AG,GG		0.0,0.3125,0.1035		438/1438	24417405	13,12551	2080	4202	6282	SO:0001819	synonymous_variant	127294	exon12			ACCTTCGACGAGG	AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	26679	protein-coding gene	gene with protein product			"""myomesin family, member 3"""			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.1314C>T	1.37:g.24417405G>A		145	0		195	78	NM_152372	0	0	0	0	0	A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Silent	SNP	ENST00000374434.3	37	CCDS41281.1																																																																																			G|0.999;A|0.001		0.632	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008272.2	NM_152372	
GRHL3	57822	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	24664169	24664169	+	Missense_Mutation	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:24664169A>G	ENST00000350501.5	+	6	857	c.730A>G	c.(730-732)Aag>Gag	p.K244E	GRHL3_ENST00000361548.4_Missense_Mutation_p.K244E|GRHL3_ENST00000236255.4_Missense_Mutation_p.K249E|GRHL3_ENST00000342072.4_Missense_Mutation_p.K151E|GRHL3_ENST00000356046.2_Missense_Mutation_p.K198E	NM_198174.2	NP_937817.3	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	244					central nervous system development (GO:0007417)|cochlea morphogenesis (GO:0090103)|ectoderm development (GO:0007398)|epidermis development (GO:0008544)|establishment of planar polarity (GO:0001736)|eyelid development in camera-type eye (GO:0061029)|pattern specification process (GO:0007389)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		CATCCACATCAAGTCAGGCGA	0.602																																					p.K249E		.											.	GRHL3-91	0			c.A745G						.						99.0	84.0	89.0					1																	24664169		2203	4300	6503	SO:0001583	missense	57822	exon6			CACATCAAGTCAG	AY231161	CCDS251.1, CCDS252.1, CCDS44088.1, CCDS252.2, CCDS53284.1	1p36	2008-02-05	2005-07-11	2005-07-11	ENSG00000158055	ENSG00000158055			25839	protein-coding gene	gene with protein product		608317	"""transcription factor CP2-like 4"""	TFCP2L4		12549979	Standard	NM_021180		Approved	SOM	uc021oiw.1	Q8TE85	OTTHUMG00000003040	ENST00000350501.5:c.730A>G	1.37:g.24664169A>G	ENSP00000288955:p.Lys244Glu	165	0		209	87	NM_021180	0	0	0	0	0	A2A297|B2RCL1|G3XAF0|Q5TH78|Q86Y06|Q8N407	Missense_Mutation	SNP	ENST00000350501.5	37	CCDS252.2	.	.	.	.	.	.	.	.	.	.	A	27.3	4.821688	0.90873	.	.	ENSG00000158055	ENST00000361548;ENST00000342072;ENST00000350501;ENST00000356046;ENST00000236255	T;T;T;T;T	0.19394	2.15;2.15;2.15;2.15;2.15	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.53126	0.1777	M	0.87180	2.865	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.997;0.997	T	0.60581	-0.7235	10	0.72032	D	0.01	-33.7547	15.6284	0.76882	1.0:0.0:0.0:0.0	.	198;249;244	A2A297;Q8TE85-2;G3XAF0	.;.;.	E	244;151;244;198;249	ENSP00000354943:K244E;ENSP00000340543:K151E;ENSP00000288955:K244E;ENSP00000348333:K198E;ENSP00000236255:K249E	ENSP00000236255:K249E	K	+	1	0	GRHL3	24536756	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.786000	0.69006	2.281000	0.76405	0.533000	0.62120	AAG	.		0.602	GRHL3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000009047.2	NM_021180	
STPG1	90529	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	24706214	24706214	+	Missense_Mutation	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:24706214A>G	ENST00000374409.1	-	5	645	c.391T>C	c.(391-393)Tcc>Ccc	p.S131P	STPG1_ENST00000440416.1_Missense_Mutation_p.S84P|STPG1_ENST00000468303.1_5'UTR|STPG1_ENST00000337248.4_Missense_Mutation_p.S131P|STPG1_ENST00000003583.8_Missense_Mutation_p.S84P	NM_001199012.1	NP_001185941.1	Q5TH74	STPG1_HUMAN	sperm-tail PG-rich repeat containing 1	131					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											AACATGCTGGAACACGAATTA	0.413																																					p.S131P		.											.	.	0			c.T391C						.						117.0	119.0	118.0					1																	24706214		2203	4300	6503	SO:0001583	missense	90529	exon5			TGCTGGAACACGA	BC047705	CCDS253.1, CCDS55581.1	1p36.11	2012-10-31	2012-07-30	2012-07-30	ENSG00000001460	ENSG00000001460			28070	protein-coding gene	gene with protein product	"""O6-methylguanine-induced apoptosis 2"""	615826	"""chromosome 1 open reading frame 201"""	C1orf201		23028632	Standard	NM_001199012		Approved	FLJ33340, MAPO2	uc001bjc.3	Q5TH74	OTTHUMG00000003297	ENST00000374409.1:c.391T>C	1.37:g.24706214A>G	ENSP00000363530:p.Ser131Pro	82	0		96	33	NM_001199012	0	0	5	11	6	Q49AP0|Q6P3R4|Q86VU9|Q8WVQ3	Missense_Mutation	SNP	ENST00000374409.1	37	CCDS55581.1	.	.	.	.	.	.	.	.	.	.	A	19.62	3.861990	0.71949	.	.	ENSG00000001460	ENST00000374409;ENST00000440416;ENST00000003583;ENST00000337248;ENST00000437986;ENST00000438866;ENST00000374404	.	.	.	5.9	5.9	0.94986	.	0.000000	0.64402	D	0.000001	T	0.78717	0.4327	M	0.78801	2.425	0.50632	D	0.999889	D;D	0.76494	0.998;0.999	D;D	0.85130	0.994;0.997	T	0.81398	-0.0951	9	0.87932	D	0	-32.2566	12.7163	0.57117	1.0:0.0:0.0:0.0	.	131;84	Q5TH74;Q5TH74-3	CA201_HUMAN;.	P	131;84;84;131;131;34;35	.	ENSP00000003583:S84P	S	-	1	0	C1orf201	24578801	1.000000	0.71417	1.000000	0.80357	0.709000	0.40893	4.642000	0.61383	2.254000	0.74563	0.460000	0.39030	TCC	.		0.413	STPG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009172.1	NM_178122	
SRRM1	10250	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	24975468	24975468	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:24975468G>A	ENST00000323848.9	+	4	668	c.353G>A	c.(352-354)gGa>gAa	p.G118E	SRRM1_ENST00000447431.2_Missense_Mutation_p.G118E|SRRM1_ENST00000374389.4_Missense_Mutation_p.G118E|SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000537199.1_Missense_Mutation_p.G17E	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	118	Necessary for DNA and RNA-binding.|Necessary for mRNA 3'-end cleavage and cytoplasmic accumulation.|PWI. {ECO:0000255|PROSITE- ProRule:PRU00627}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		AACATCGCGGGAATCCCTTCT	0.398																																					p.G118E	Ovarian(68;897 1494 3282 17478)	.											.	SRRM1-93	0			c.G353A						.						122.0	132.0	129.0					1																	24975468		2203	4300	6503	SO:0001583	missense	10250	exon4			TCGCGGGAATCCC	AF048977	CCDS255.1	1p36	2010-04-22			ENSG00000133226	ENSG00000133226			16638	protein-coding gene	gene with protein product	"""Ser/Arg-related nuclear matrix protein"", ""plenty of prolines 101-like"""	605975				9531537	Standard	NM_005839		Approved	SRM160, POP101, MGC39488	uc001bjm.3	Q8IYB3	OTTHUMG00000003320	ENST00000323848.9:c.353G>A	1.37:g.24975468G>A	ENSP00000326261:p.Gly118Glu	37	0		42	13	NM_005839	0	0	15	36	21	O60585|Q5VVN4	Missense_Mutation	SNP	ENST00000323848.9	37	CCDS255.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.110389	0.77210	.	.	ENSG00000133226	ENST00000323848;ENST00000447431;ENST00000374389;ENST00000537199	T;T;T;T	0.58358	0.34;0.34;0.34;0.34	5.68	5.68	0.88126	Splicing factor PWI (3);	0.000000	0.56097	D	0.000029	T	0.80696	0.4672	M	0.92367	3.3	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84381	0.0549	10	0.87932	D	0	-4.0668	20.1553	0.98111	0.0:0.0:1.0:0.0	.	118;118	E9PCT1;Q8IYB3	.;SRRM1_HUMAN	E	118;118;118;17	ENSP00000326261:G118E;ENSP00000391430:G118E;ENSP00000363510:G118E;ENSP00000441776:G17E	ENSP00000326261:G118E	G	+	2	0	SRRM1	24848055	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	9.531000	0.98054	2.838000	0.97847	0.591000	0.81541	GGA	.		0.398	SRRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009292.2	NM_005839	
RPS6KA1	6195	hgsc.bcm.edu	37	1	26856442	26856442	+	Missense_Mutation	SNP	C	C	G	rs560501416	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:26856442C>G	ENST00000374168.2	+	1	185	c.31C>G	c.(31-33)Ccg>Gcg	p.P11A	RPS6KA1_ENST00000374162.2_5'Flank|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.P11A|RPS6KA1_ENST00000526792.1_5'Flank	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	11					axon guidance (GO:0007411)|cell cycle (GO:0007049)|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 apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of hepatic stellate cell activation (GO:2000491)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		GGAGCCCTGGCCGCTCATGGA	0.791													C|||	2	0.000399361	0.0	0.0	5008	,	,		5716	0.0		0.001	False		,,,				2504	0.001				p.P11A		.											.	RPS6KA1-510	0			c.C31G						.																																			SO:0001583	missense	6195	exon1			CCCTGGCCGCTCA	BC014966	CCDS284.1, CCDS30649.1	1p	2011-04-05	2002-08-29		ENSG00000117676	ENSG00000117676			10430	protein-coding gene	gene with protein product		601684	"""ribosomal protein S6 kinase, 90kD, polypeptide 1"""			8141249	Standard	NM_001006665		Approved	RSK, RSK1, HU-1	uc001bms.1	Q15418	OTTHUMG00000004003	ENST00000374168.2:c.31C>G	1.37:g.26856442C>G	ENSP00000363283:p.Pro11Ala	0	0		8	4	NM_002953	0	0	2	4	2	A6NGG4|A8K9K7|B2RDY8|B7Z5J0|Q5SVM5|Q5SVM8|Q5SVM9|Q96C05|Q9BQK2	Missense_Mutation	SNP	ENST00000374168.2	37	CCDS284.1	.	.	.	.	.	.	.	.	.	.	c	13.08	2.129099	0.37533	.	.	ENSG00000117676	ENST00000374168;ENST00000374166	T;T	0.69175	-0.38;-0.26	3.94	3.03	0.35002	.	.	.	.	.	T	0.53142	0.1778	L	0.28274	0.84	0.80722	D	1	P	0.43392	0.805	P	0.47134	0.539	T	0.42172	-0.9467	9	0.11485	T	0.65	.	7.3997	0.26956	0.0:0.8771:0.0:0.1229	.	11	Q15418	KS6A1_HUMAN	A	11	ENSP00000363283:P11A;ENSP00000363281:P11A	ENSP00000363281:P11A	P	+	1	0	RPS6KA1	26729029	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	0.662000	0.25038	0.884000	0.36064	0.450000	0.29827	CCG	.		0.791	RPS6KA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011431.1	NM_002953	
RPS6KA1	6195	hgsc.bcm.edu	37	1	26856462	26856462	+	Silent	SNP	T	T	G	rs11800553	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:26856462T>G	ENST00000374168.2	+	1	205	c.51T>G	c.(49-51)ccT>ccG	p.P17P	RPS6KA1_ENST00000374162.2_5'Flank|RPS6KA1_ENST00000374166.4_Silent_p.P17P|RPS6KA1_ENST00000526792.1_5'Flank	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	17					axon guidance (GO:0007411)|cell cycle (GO:0007049)|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 apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of hepatic stellate cell activation (GO:2000491)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		AGCTAGTGCCTCTGGACCCGG	0.786													G|||	4691	0.936701	0.9259	0.9179	5008	,	,		6031	0.9583		0.9553	False		,,,				2504	0.9233				p.P17P		.											.	RPS6KA1-510	0			c.T51G						.						2.0	2.0	2.0					1																	26856462		1084	2070	3154	SO:0001819	synonymous_variant	6195	exon1			AGTGCCTCTGGAC	BC014966	CCDS284.1, CCDS30649.1	1p	2011-04-05	2002-08-29		ENSG00000117676	ENSG00000117676			10430	protein-coding gene	gene with protein product		601684	"""ribosomal protein S6 kinase, 90kD, polypeptide 1"""			8141249	Standard	NM_001006665		Approved	RSK, RSK1, HU-1	uc001bms.1	Q15418	OTTHUMG00000004003	ENST00000374168.2:c.51T>G	1.37:g.26856462T>G		0	0		7	7	NM_002953	0	0	0	0	0	A6NGG4|A8K9K7|B2RDY8|B7Z5J0|Q5SVM5|Q5SVM8|Q5SVM9|Q96C05|Q9BQK2	Silent	SNP	ENST00000374168.2	37	CCDS284.1																																																																																			T|0.065;G|0.935		0.786	RPS6KA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011431.1	NM_002953	
TMEM222	84065	ucsc.edu;bcgsc.ca;mdanderson.org	37	1	27648800	27648800	+	Missense_Mutation	SNP	C	C	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:27648800C>A	ENST00000374076.4	+	1	150	c.112C>A	c.(112-114)Caa>Aaa	p.Q38K	RNU6-48P_ENST00000384161.1_RNA|TMEM222_ENST00000608611.1_Missense_Mutation_p.Q5K	NM_032125.2	NP_115501.2	Q9H0R3	TM222_HUMAN	transmembrane protein 222	38						integral component of membrane (GO:0016021)				biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	7						GAAGCAATATCAAGGCTCCGG	0.662																																					p.Q38K		.											.	TMEM222-90	0			c.C112A						.						33.0	29.0	30.0					1																	27648800		2202	4298	6500	SO:0001583	missense	84065	exon1			CAATATCAAGGCT	AL136683	CCDS297.2	1p36.11	2008-07-07	2008-07-07	2008-07-07	ENSG00000186501	ENSG00000186501			25363	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 160"""	C1orf160		11230166	Standard	NM_032125		Approved	DKFZP564D0478	uc001bnr.4	Q9H0R3	OTTHUMG00000004410	ENST00000374076.4:c.112C>A	1.37:g.27648800C>A	ENSP00000363189:p.Gln38Lys	233	3		388	144	NM_032125	0	0	21	34	13	D3DPL6|Q53HD8|Q5FVE9	Missense_Mutation	SNP	ENST00000374076.4	37	CCDS297.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.011|0.011	-1.727017|-1.727017	0.00694|0.00694	.|.	.|.	ENSG00000186501|ENSG00000186501	ENST00000374076;ENST00000374073;ENST00000498220|ENST00000466759;ENST00000464813	.|.	.|.	.|.	3.87|3.87	2.91|2.91	0.33838|0.33838	.|.	1.448370|.	0.04756|.	U|.	0.425472|.	T|.	0.17109|.	0.0411|.	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|.	0.23226|.	-1.0194|.	9|.	0.06236|.	T|.	0.91|.	0.2124|0.2124	5.9636|5.9636	0.19313|0.19313	0.4439:0.4002:0.1559:0.0|0.4439:0.4002:0.1559:0.0	.|.	38|.	Q9H0R3|.	TM222_HUMAN|.	K|X	38;5;4|19;10	.|.	ENSP00000363186:Q5K|.	Q|S	+|+	1|2	0|0	TMEM222|TMEM222	27521387|27521387	0.010000|0.010000	0.17322|0.17322	0.002000|0.002000	0.10522|0.10522	0.041000|0.041000	0.13682|0.13682	2.011000|2.011000	0.40922|0.40922	0.763000|0.763000	0.33175|0.33175	0.561000|0.561000	0.74099|0.74099	CAA|TCA	.		0.662	TMEM222-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000012809.2	NM_032125	
GPR3	2827	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	27720657	27720657	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:27720657G>A	ENST00000374024.3	+	2	454	c.355G>A	c.(355-357)Gcc>Acc	p.A119T		NM_005281.3	NP_005272.1	P46089	GPR3_HUMAN	G protein-coupled receptor 3	119					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|regulation of meiosis (GO:0040020)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|lung(3)|ovary(1)|skin(1)	8		Breast(348;1.53e-05)|Ovarian(437;0.0606)|all_lung(284;0.157)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.81e-26)|Colorectal(126;1.24e-08)|KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;4.45e-06)|Lung(427;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|LUSC - Lung squamous cell carcinoma(448;0.008)|READ - Rectum adenocarcinoma(331;0.0419)		GCTGGCAATGGCCTTTACCGC	0.582																																					p.A119T		.											.	GPR3-91	0			c.G355A						.						108.0	99.0	102.0					1																	27720657		2203	4300	6503	SO:0001583	missense	2827	exon2			GCAATGGCCTTTA	BC032702	CCDS303.1	1p36.1-p35	2012-08-21			ENSG00000181773	ENSG00000181773		"""GPCR / Class A : Orphans"""	4484	protein-coding gene	gene with protein product		600241				7851889	Standard	NM_005281		Approved	ACCA	uc001bod.4	P46089	OTTHUMG00000003397	ENST00000374024.3:c.355G>A	1.37:g.27720657G>A	ENSP00000363136:p.Ala119Thr	63	0		119	53	NM_005281	0	0	13	24	11	A8K570	Missense_Mutation	SNP	ENST00000374024.3	37	CCDS303.1	.	.	.	.	.	.	.	.	.	.	G	18.52	3.641463	0.67244	.	.	ENSG00000181773	ENST00000374024	T	0.37584	1.19	5.46	5.46	0.80206	GPCR, rhodopsin-like superfamily (1);	0.072453	0.53938	D	0.000054	T	0.39358	0.1075	L	0.43646	1.37	0.48135	D	0.999599	P	0.45768	0.866	P	0.48270	0.572	T	0.20405	-1.0276	10	0.62326	D	0.03	.	12.2623	0.54658	0.0:0.0:0.7172:0.2828	.	119	P46089	GPR3_HUMAN	T	119	ENSP00000363136:A119T	ENSP00000363136:A119T	A	+	1	0	GPR3	27593244	1.000000	0.71417	0.995000	0.50966	0.972000	0.66771	4.598000	0.61069	2.561000	0.86390	0.462000	0.41574	GCC	.		0.582	GPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009522.1	NM_005281	
AHDC1	27245	hgsc.bcm.edu	37	1	27877519	27877519	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:27877519G>A	ENST00000247087.5	-	5	1704	c.1108C>T	c.(1108-1110)Ccg>Tcg	p.P370S	AHDC1_ENST00000374011.2_Missense_Mutation_p.P370S			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	370	Pro-rich.						DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GGGCCGTGCGGTGAGCACAAG	0.706																																					p.P370S		.											.	AHDC1-90	0			c.C1108T						.						7.0	7.0	7.0					1																	27877519		2078	4050	6128	SO:0001583	missense	27245	exon6			CGTGCGGTGAGCA	AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.1108C>T	1.37:g.27877519G>A	ENSP00000247087:p.Pro370Ser	7	0		48	25	NM_001029882	0	0	11	24	13	Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Missense_Mutation	SNP	ENST00000247087.5	37	CCDS30652.1	.	.	.	.	.	.	.	.	.	.	G	15.73	2.920455	0.52653	.	.	ENSG00000126705	ENST00000247087;ENST00000374011	T;T	0.60040	0.22;0.22	5.04	4.11	0.48088	.	0.000000	0.44483	U	0.000454	T	0.58793	0.2147	N	0.14661	0.345	0.30539	N	0.766632	D	0.60575	0.988	D	0.75484	0.986	T	0.62238	-0.6896	10	0.62326	D	0.03	-11.0771	12.0599	0.53557	0.0:0.0:0.8273:0.1727	.	370	Q5TGY3	AHDC1_HUMAN	S	370	ENSP00000247087:P370S;ENSP00000363123:P370S	ENSP00000247087:P370S	P	-	1	0	AHDC1	27750106	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.739000	0.47409	1.320000	0.45209	0.585000	0.79938	CCG	.		0.706	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009523.3		
HCRTR1	3061	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	32084894	32084894	+	Missense_Mutation	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:32084894A>G	ENST00000373706.5	+	1	254	c.101A>G	c.(100-102)tAt>tGt	p.Y34C	HCRTR1_ENST00000468521.1_3'UTR|HCRTR1_ENST00000403528.2_Missense_Mutation_p.Y34C|HCRTR1_ENST00000373705.1_Missense_Mutation_p.Y34C			O43613	OX1R_HUMAN	hypocretin (orexin) receptor 1	34					feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|orexin receptor activity (GO:0016499)|peptide hormone binding (GO:0017046)			breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	7		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.053)		TTTCTCCGCTATCTGTGGCGC	0.607																																					p.Y34C		.											.	HCRTR1-523	0			c.A101G						.						148.0	149.0	148.0					1																	32084894		2203	4300	6503	SO:0001583	missense	3061	exon3			TCCGCTATCTGTG	AF041243	CCDS344.1	1p33	2012-08-08			ENSG00000121764	ENSG00000121764		"""GPCR / Class A : Hypocretin (orexin) receptors"""	4848	protein-coding gene	gene with protein product		602392				9491897	Standard	NM_001525		Approved	OX1R	uc009vtx.2	O43613	OTTHUMG00000003876	ENST00000373706.5:c.101A>G	1.37:g.32084894A>G	ENSP00000362810:p.Tyr34Cys	97	0		132	66	NM_001525	0	0	0	0	0	A8K3A6|Q9HBV6	Missense_Mutation	SNP	ENST00000373706.5	37	CCDS344.1	.	.	.	.	.	.	.	.	.	.	A	18.46	3.627845	0.66901	.	.	ENSG00000121764	ENST00000403528;ENST00000373706;ENST00000373705	T;T;T	0.61158	0.13;0.13;0.38	3.91	3.91	0.45181	.	0.000000	0.64402	D	0.000002	T	0.63850	0.2546	L	0.47190	1.495	0.44966	D	0.997982	D;D	0.69078	0.997;0.997	P;P	0.61328	0.887;0.829	T	0.62671	-0.6805	10	0.38643	T	0.18	.	11.3471	0.49567	1.0:0.0:0.0:0.0	.	34;34	A6NMV7;O43613	.;OX1R_HUMAN	C	34	ENSP00000384387:Y34C;ENSP00000362810:Y34C;ENSP00000362809:Y34C	ENSP00000362809:Y34C	Y	+	2	0	HCRTR1	31857481	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.375000	0.79646	1.704000	0.51252	0.533000	0.62120	TAT	.		0.607	HCRTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011042.1	NM_001525	
BAI2	576	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	32197006	32197006	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:32197006C>T	ENST00000373658.3	-	29	4116	c.3775G>A	c.(3775-3777)Gtc>Atc	p.V1259I	BAI2_ENST00000398542.1_Missense_Mutation_p.V1159I|BAI2_ENST00000398547.1_Missense_Mutation_p.V1192I|BAI2_ENST00000465256.1_5'UTR|BAI2_ENST00000527361.1_Missense_Mutation_p.V1226I|BAI2_ENST00000257070.4_Missense_Mutation_p.V1226I|BAI2_ENST00000440175.2_Missense_Mutation_p.V868I|BAI2_ENST00000398556.3_Missense_Mutation_p.V1174I|BAI2_ENST00000398538.1_Missense_Mutation_p.V1247I|BAI2_ENST00000373655.2_Missense_Mutation_p.V1259I	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	1259					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		CAAGTGTTGACCTCCTTGAAC	0.632																																					p.V1259I		.											.	BAI2-526	0			c.G3775A						.						31.0	28.0	29.0					1																	32197006		2202	4298	6500	SO:0001583	missense	576	exon29			TGTTGACCTCCTT	AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"""-"", ""GPCR / Class B : Orphans"""	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.3775G>A	1.37:g.32197006C>T	ENSP00000362762:p.Val1259Ile	120	0		199	91	NM_001703	0	0	1	1	0	B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Missense_Mutation	SNP	ENST00000373658.3	37	CCDS346.2	.	.	.	.	.	.	.	.	.	.	C	4.382	0.070550	0.08436	.	.	ENSG00000121753	ENST00000398556;ENST00000398547;ENST00000373658;ENST00000373655;ENST00000398542;ENST00000257070;ENST00000527361;ENST00000440175;ENST00000398538	T;T;T;T;T;T;T;T;T	0.44083	1.6;1.87;1.03;1.03;1.98;0.93;0.93;1.64;1.06	4.88	3.97	0.46021	.	0.000000	0.37219	N	0.002197	T	0.26122	0.0637	N	0.24115	0.695	0.34410	D	0.696298	B;B;B;B;B;B;B	0.28324	0.207;0.067;0.007;0.112;0.207;0.04;0.04	B;B;B;B;B;B;B	0.36186	0.219;0.032;0.013;0.023;0.219;0.014;0.023	T	0.27434	-1.0074	10	0.02654	T	1	.	8.2418	0.31665	0.1548:0.765:0.0:0.0802	.	1226;1247;868;1174;1259;1259;1247	O60241-4;O60241-3;B4DKC3;A2A3C6;O60241-2;O60241;A2A3C2	.;.;.;.;.;BAI2_HUMAN;.	I	1174;1192;1259;1259;1159;1226;1226;868;1247	ENSP00000381564:V1174I;ENSP00000381555:V1192I;ENSP00000362762:V1259I;ENSP00000362759:V1259I;ENSP00000381550:V1159I;ENSP00000257070:V1226I;ENSP00000435397:V1226I;ENSP00000391071:V868I;ENSP00000381548:V1247I	ENSP00000257070:V1226I	V	-	1	0	BAI2	31969593	0.988000	0.35896	1.000000	0.80357	0.991000	0.79684	2.065000	0.41442	1.189000	0.43028	0.561000	0.74099	GTC	.		0.632	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381838.1	NM_001703	
BAI2	576	broad.mit.edu;bcgsc.ca	37	1	32198634	32198634	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:32198634G>A	ENST00000373658.3	-	26	3904	c.3563C>T	c.(3562-3564)gCt>gTt	p.A1188V	BAI2_ENST00000398542.1_Missense_Mutation_p.A1088V|BAI2_ENST00000398547.1_Missense_Mutation_p.A1121V|BAI2_ENST00000465256.1_5'UTR|BAI2_ENST00000527361.1_Missense_Mutation_p.A1155V|BAI2_ENST00000257070.4_Missense_Mutation_p.A1155V|BAI2_ENST00000440175.2_Missense_Mutation_p.A797V|BAI2_ENST00000398556.3_Missense_Mutation_p.A1103V|BAI2_ENST00000398538.1_Missense_Mutation_p.A1176V|BAI2_ENST00000373655.2_Missense_Mutation_p.A1188V	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	1188					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		GTTGAAGACAGCAAAGAGGGC	0.647																																					p.A1188V		.											.	BAI2-526	0			c.C3563T						.						69.0	50.0	56.0					1																	32198634		2194	4293	6487	SO:0001583	missense	576	exon26			AAGACAGCAAAGA	AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"""-"", ""GPCR / Class B : Orphans"""	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.3563C>T	1.37:g.32198634G>A	ENSP00000362762:p.Ala1188Val	330	0		450	16	NM_001703	0	0	2	3	1	B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Missense_Mutation	SNP	ENST00000373658.3	37	CCDS346.2	.	.	.	.	.	.	.	.	.	.	G	34	5.346836	0.95807	.	.	ENSG00000121753	ENST00000398556;ENST00000398547;ENST00000373658;ENST00000373655;ENST00000398542;ENST00000257070;ENST00000527361;ENST00000440175;ENST00000398538	T;T;T;T;T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02	4.71	4.71	0.59529	GPCR, family 2-like (1);	0.000000	0.37955	N	0.001870	T	0.58380	0.2118	L	0.42487	1.325	0.58432	D	0.999999	D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;0.987;1.0;1.0;1.0	D;D;D;D;D;D;D	0.87578	0.977;0.996;0.998;0.955;0.994;0.998;0.998	T	0.62530	-0.6835	10	0.87932	D	0	.	17.6409	0.88136	0.0:0.0:1.0:0.0	.	1155;1176;797;1103;1188;1188;1176	O60241-4;O60241-3;B4DKC3;A2A3C6;O60241-2;O60241;A2A3C2	.;.;.;.;.;BAI2_HUMAN;.	V	1103;1121;1188;1188;1088;1155;1155;797;1176	ENSP00000381564:A1103V;ENSP00000381555:A1121V;ENSP00000362762:A1188V;ENSP00000362759:A1188V;ENSP00000381550:A1088V;ENSP00000257070:A1155V;ENSP00000435397:A1155V;ENSP00000391071:A797V;ENSP00000381548:A1176V	ENSP00000257070:A1155V	A	-	2	0	BAI2	31971221	1.000000	0.71417	0.954000	0.39281	0.981000	0.71138	8.004000	0.88535	2.337000	0.79520	0.561000	0.74099	GCT	.		0.647	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381838.1	NM_001703	
SFPQ	6421	hgsc.bcm.edu	37	1	35658609	35658609	+	Silent	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:35658609A>G	ENST00000357214.5	-	1	140	c.42T>C	c.(40-42)ggT>ggC	p.G14G	Y_RNA_ENST00000364998.1_RNA	NM_005066.2	NP_005057.1	P23246	SFPQ_HUMAN	splicing factor proline/glutamine-rich	14	3 X 3 AA repeats of R-G-G.|Gln/Glu/Pro-rich.|Poly-Gly.				alternative mRNA splicing, via spliceosome (GO:0000380)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H3 deacetylation (GO:0070932)|mRNA processing (GO:0006397)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|histone deacetylase binding (GO:0042826)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)		SFPQ/TFE3(6)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				tgtggaagccaccaccgccac	0.677			T	TFE3	papillary renal cell																																p.G14G		.		Dom	yes		1	1p34.3	6421	splicing factor proline/glutamine rich(polypyrimidine tract binding protein associated)		E	.	SFPQ-231	0			c.T42C						.						6.0	6.0	6.0					1																	35658609		1779	3604	5383	SO:0001819	synonymous_variant	6421	exon1			GAAGCCACCACCG	X70944	CCDS388.1	1p34.3	2014-06-13	2010-05-04		ENSG00000116560	ENSG00000116560		"""RNA binding motif (RRM) containing"""	10774	protein-coding gene	gene with protein product	"""polypyrimidine tract binding protein associated"", ""protein phosphatase 1, regulatory subunit 140"""	605199	"""splicing factor proline/glutamine rich (polypyrimidine tract-binding protein-associated)"""			8449401	Standard	NM_005066		Approved	PSF, PPP1R140	uc001bys.3	P23246	OTTHUMG00000004157	ENST00000357214.5:c.42T>C	1.37:g.35658609A>G		3	0		17	9	NM_005066	0	0	31	58	27	P30808|Q5SZ71	Silent	SNP	ENST00000357214.5	37	CCDS388.1																																																																																			.		0.677	SFPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011984.4	NM_005066	
AGO3	192669	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	36437666	36437666	+	Missense_Mutation	SNP	T	T	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:36437666T>A	ENST00000373191.4	+	4	703	c.354T>A	c.(352-354)gaT>gaA	p.D118E	AGO3_ENST00000397828.2_Missense_Mutation_p.D118E|AGO3_ENST00000324350.5_Missense_Mutation_p.D118E|AGO3_ENST00000246314.6_5'UTR	NM_024852.3	NP_079128.2	Q9H9G7	AGO3_HUMAN	argonaute RISC catalytic component 3	118					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of stem cell proliferation (GO:0072091)	cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)										GTGGAAAAGATCGACCTTTCA	0.413																																					p.D118E		.											.	.	0			c.T354A						.						120.0	107.0	111.0					1																	36437666		2203	4300	6503	SO:0001583	missense	192669	exon4			AAAAGATCGACCT	AB046787	CCDS399.1, CCDS400.1	1p34	2013-06-03	2013-02-15	2013-02-15	ENSG00000126070	ENSG00000126070		"""Argonaute/PIWI family"""	18421	protein-coding gene	gene with protein product	"""argonaute 3"""	607355	"""eukaryotic translation initiation factor 2C, 3"""	EIF2C3		12906857	Standard	NM_024852		Approved	hAGO3, FLJ12765	uc001bzp.3	Q9H9G7	OTTHUMG00000184172	ENST00000373191.4:c.354T>A	1.37:g.36437666T>A	ENSP00000362287:p.Asp118Glu	231	0		273	113	NM_024852	0	0	2	8	6	B1ALI0|Q5TA55|Q9H1U6	Missense_Mutation	SNP	ENST00000373191.4	37	CCDS399.1	.	.	.	.	.	.	.	.	.	.	T	15.50	2.851144	0.51270	.	.	ENSG00000126070	ENST00000324350;ENST00000373191;ENST00000397828	T	0.09630	2.96	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.07593	0.0191	L	0.31752	0.955	0.54753	D	0.999983	B;B	0.20052	0.004;0.041	B;B	0.22880	0.008;0.042	T	0.14980	-1.0453	10	0.07325	T	0.83	-44.8474	10.196	0.43054	0.0:0.0748:0.0:0.9252	.	118;118	Q9H9G7;Q5TA56	AGO3_HUMAN;.	E	118	ENSP00000362287:D118E	ENSP00000317425:D118E	D	+	3	2	EIF2C3	36210253	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.946000	0.29069	2.176000	0.68965	0.460000	0.39030	GAT	.		0.413	AGO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019831.4	NM_024852	
AGO3	192669	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	36437741	36437741	+	Silent	SNP	G	G	A	rs370300022		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:36437741G>A	ENST00000373191.4	+	4	778	c.429G>A	c.(427-429)cgG>cgA	p.R143R	AGO3_ENST00000397828.2_Silent_p.R143R|AGO3_ENST00000324350.5_Silent_p.R143R|AGO3_ENST00000246314.6_5'UTR	NM_024852.3	NP_079128.2	Q9H9G7	AGO3_HUMAN	argonaute RISC catalytic component 3	143					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of stem cell proliferation (GO:0072091)	cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)										TGACAGGACGGACCTTGCCTG	0.512																																					p.R143R		.											.	.	0			c.G429A						.						187.0	149.0	162.0					1																	36437741		2203	4300	6503	SO:0001819	synonymous_variant	192669	exon4			AGGACGGACCTTG	AB046787	CCDS399.1, CCDS400.1	1p34	2013-06-03	2013-02-15	2013-02-15	ENSG00000126070	ENSG00000126070		"""Argonaute/PIWI family"""	18421	protein-coding gene	gene with protein product	"""argonaute 3"""	607355	"""eukaryotic translation initiation factor 2C, 3"""	EIF2C3		12906857	Standard	NM_024852		Approved	hAGO3, FLJ12765	uc001bzp.3	Q9H9G7	OTTHUMG00000184172	ENST00000373191.4:c.429G>A	1.37:g.36437741G>A		264	0		324	94	NM_024852	0	0	2	3	1	B1ALI0|Q5TA55|Q9H1U6	Silent	SNP	ENST00000373191.4	37	CCDS399.1																																																																																			.		0.512	AGO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019831.4	NM_024852	
MACF1	23499	broad.mit.edu	37	1	39760802	39760802	+	Missense_Mutation	SNP	C	C	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:39760802C>A	ENST00000372915.3	+	18	2341	c.2254C>A	c.(2254-2256)Cca>Aca	p.P752T	MACF1_ENST00000361689.2_Missense_Mutation_p.P752T|MACF1_ENST00000564288.1_Missense_Mutation_p.P747T|MACF1_ENST00000545844.1_Missense_Mutation_p.P752T|MACF1_ENST00000539005.1_Missense_Mutation_p.P752T|MACF1_ENST00000317713.7_Missense_Mutation_p.P752T|MACF1_ENST00000567887.1_Missense_Mutation_p.P784T			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	752					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGAGAACCACCCAGCCAAGCA	0.413																																					p.P752T		.											.	MACF1-165	0			c.C2254A						.						85.0	86.0	86.0					1																	39760802		2203	4300	6503	SO:0001583	missense	23499	exon20			AACCACCCAGCCA	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.2254C>A	1.37:g.39760802C>A	ENSP00000362006:p.Pro752Thr	84	0		100	3	NM_012090	0	0	3	3	0	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37		.	.	.	.	.	.	.	.	.	.	C	32	5.140232	0.94560	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000524432;ENST00000530262;ENST00000372900	D;D;D;D;D;D;D	0.96967	-4.19;-4.19;-4.19;-4.19;-4.19;-4.19;-4.19	5.57	5.57	0.84162	.	.	.	.	.	D	0.98526	0.9508	M	0.89715	3.055	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.79108	0.992;0.985	D	0.99120	1.0849	9	0.87932	D	0	.	19.9215	0.97087	0.0:1.0:0.0:0.0	.	752;717	F8W8Q1;Q9UPN3-3	.;.	T	752;752;752;752;752;710;901;912	ENSP00000439537:P752T;ENSP00000362006:P752T;ENSP00000354573:P752T;ENSP00000313438:P752T;ENSP00000444364:P752T;ENSP00000435070:P710T;ENSP00000437059:P901T	ENSP00000313438:P752T	P	+	1	0	MACF1	39533389	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.695000	0.84257	2.785000	0.95823	0.655000	0.94253	CCA	.		0.413	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044	
PPCS	79717	hgsc.bcm.edu	37	1	42922266	42922266	+	Frame_Shift_Del	DEL	C	C	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:42922266delC	ENST00000372561.3	+	1	37	c.30delC	c.(28-30)ttcfs	p.F10fs	PPCS_ENST00000472013.1_3'UTR|PPCS_ENST00000372560.3_Frame_Shift_Del_p.F10fs|PPCS_ENST00000455780.1_5'UTR|ZMYND12_ENST00000372565.3_5'Flank|PPCS_ENST00000372556.3_Frame_Shift_Del_p.F10fs|ZMYND12_ENST00000433602.2_5'Flank|PPCS_ENST00000372562.1_Intron	NM_024664.2	NP_078940.2	Q9HAB8	PPCS_HUMAN	phosphopantothenoylcysteine synthetase	10					coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	phosphopantothenate--cysteine ligase activity (GO:0004632)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|skin(3)	12	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TAGCCGAGTTCCCCCAGCCTC	0.726																																					p.F10fs		.											.	PPCS-90	0			c.30delC						.						8.0	10.0	10.0					1																	42922266		1836	3991	5827	SO:0001589	frameshift_variant	79717	exon1			CGAGTTCCCCCAG	AK021900	CCDS41311.1, CCDS41312.1	1p34.2	2008-02-05			ENSG00000127125	ENSG00000127125	6.3.2.5		25686	protein-coding gene	gene with protein product		609853				11923312	Standard	NM_024664		Approved	FLJ11838	uc001chl.3	Q9HAB8	OTTHUMG00000007332	ENST00000372561.3:c.30delC	1.37:g.42922266delC	ENSP00000361642:p.Phe10fs	12	1		89	37	NM_024664	0	0	0	0	0	Q3KQT2|Q5VVM0	Frame_Shift_Del	DEL	ENST00000372561.3	37	CCDS41311.1																																																																																			.		0.726	PPCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019166.1	NM_024664	
YBX1	4904	broad.mit.edu;bcgsc.ca	37	1	43166582	43166582	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:43166582C>T	ENST00000321358.7	+	7	1010	c.871C>T	c.(871-873)Cgc>Tgc	p.R291C		NM_004559.3	NP_004550.2	P67809	YBOX1_HUMAN	Y box binding protein 1	291					CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell division (GO:0051781)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|histone pre-mRNA 3'end processing complex (GO:0071204)|intracellular membrane-bounded organelle (GO:0043231)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|U12-type spliceosomal complex (GO:0005689)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)			large_intestine(2)|lung(4)|ovary(4)|prostate(4)|upper_aerodigestive_tract(2)	16	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CCGACGCAGACGCCCAGAAAA	0.547																																					p.R291C		.											.	YBX1-95	0			c.C871T						.						77.0	70.0	73.0					1																	43166582		2203	4300	6503	SO:0001583	missense	4904	exon7			CGCAGACGCCCAG	BC013838	CCDS470.1	1p34	2008-02-05	2005-08-11	2005-08-11	ENSG00000065978	ENSG00000065978			8014	protein-coding gene	gene with protein product		154030	"""nuclease sensitive element binding protein 1"""	NSEP1		1891370, 3174636	Standard	NM_004559		Approved	YB-1, YB1, DBPB, NSEP-1, MDR-NF1, BP-8, CSDB, CSDA2	uc001chs.3	P67809	OTTHUMG00000007523	ENST00000321358.7:c.871C>T	1.37:g.43166582C>T	ENSP00000361626:p.Arg291Cys	472	2		601	65	NM_004559	1	0	1814	1816	1	P16990|P16991|Q14972|Q15325|Q5FVF0	Missense_Mutation	SNP	ENST00000321358.7	37	CCDS470.1	.	.	.	.	.	.	.	.	.	.	C	17.58	3.426002	0.62733	.	.	ENSG00000065978	ENST00000321358;ENST00000318612	T	0.36878	1.23	5.35	5.35	0.76521	.	0.351810	0.38111	N	0.001808	T	0.38081	0.1027	L	0.58510	1.815	0.80722	D	1	B	0.16166	0.016	B	0.06405	0.002	T	0.15983	-1.0418	10	0.49607	T	0.09	-4.6284	16.6288	0.85011	0.0:1.0:0.0:0.0	.	291	P67809	YBOX1_HUMAN	C	291;281	ENSP00000361626:R291C	ENSP00000361621:R281C	R	+	1	0	YBX1	42939169	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.126000	0.77201	2.501000	0.84356	0.552000	0.68991	CGC	.		0.547	YBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019786.2	NM_004559	
ERMAP	114625	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	43308843	43308843	+	Silent	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:43308843C>T	ENST00000372517.2	+	12	1612	c.1368C>T	c.(1366-1368)atC>atT	p.I456I	RP11-342M1.3_ENST00000414798.1_RNA|ERMAP_ENST00000487556.1_3'UTR|RP11-342M1.3_ENST00000425076.1_RNA|ERMAP_ENST00000372514.3_Silent_p.I456I|RP11-342M1.3_ENST00000416809.2_RNA|RP11-342M1.3_ENST00000444563.1_RNA|ERMAP_ENST00000328249.3_Silent_p.I366I	NM_001017922.1	NP_001017922.1	Q96PL5	ERMAP_HUMAN	erythroblast membrane-associated protein (Scianna blood group)	456			Missing (in Sc-3 allele).			cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGGATATAATCCTGTCCTTGC	0.547																																					p.I456I		.											.	ERMAP-91	0			c.C1368T						.						69.0	69.0	69.0					1																	43308843		2203	4300	6503	SO:0001819	synonymous_variant	114625	exon11			TATAATCCTGTCC	AF311284	CCDS475.1	1p34	2014-07-19	2006-02-23		ENSG00000164010	ENSG00000164010		"""Blood group antigens"", ""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	15743	protein-coding gene	gene with protein product		609017	"""Radin blood group"", ""Scianna blood group"", ""erythroblast membrane-associated protein"", ""erythroblast membrane-associated protein (RD and SC blood groups)"""	RD, SC		11549310	Standard	XM_005270415		Approved	BTN5	uc001cie.1	Q96PL5	OTTHUMG00000007619	ENST00000372517.2:c.1368C>T	1.37:g.43308843C>T		111	0		121	49	NM_018538	0	0	12	16	4	D3DPW8|Q5VV53|Q6DUE0|Q7Z3X0|Q8NCV8|Q8NCW2|Q8NCW3|Q96PL6	Silent	SNP	ENST00000372517.2	37	CCDS475.1																																																																																			.		0.547	ERMAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020180.1	NM_018538	
PTPRF	5792	broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	44083409	44083409	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:44083409G>A	ENST00000359947.4	+	25	4538	c.4198G>A	c.(4198-4200)Gtc>Atc	p.V1400I	PTPRF_ENST00000372414.3_Missense_Mutation_p.V1400I|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000438120.1_Missense_Mutation_p.V1391I|PTPRF_ENST00000372413.3_Missense_Mutation_p.V1391I|PTPRF_ENST00000422171.2_Missense_Mutation_p.V759I	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1400	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ATCCATAGGCGTCCCCGGGAG	0.597																																					p.V1400I		.											.	PTPRF-232	0			c.G4198A						.						53.0	55.0	54.0					1																	44083409		2203	4300	6503	SO:0001583	missense	5792	exon25			ATAGGCGTCCCCG	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.4198G>A	1.37:g.44083409G>A	ENSP00000353030:p.Val1400Ile	235	1		342	134	NM_002840	0	0	0	0	0	D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	ENST00000359947.4	37	CCDS489.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.173|2.173	-0.389394|-0.389394	0.04932|0.04932	.|.	.|.	ENSG00000142949|ENSG00000142949	ENST00000412568;ENST00000414879|ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000422171;ENST00000372407	.|D;D;D;D;D;D	.|0.83419	.|-1.72;-1.72;-1.72;-1.72;-1.72;-1.72	5.58|5.58	5.58|5.58	0.84498|0.84498	.|Protein-tyrosine phosphatase, receptor/non-receptor type (3);	.|0.000000	.|0.31347	.|N	.|0.007808	T|T	0.70159|0.70159	0.3192|0.3192	N|N	0.13371|0.13371	0.34|0.34	0.80722|0.80722	D|D	1|1	.|B;B;B;B;B	.|0.14438	.|0.004;0.001;0.005;0.01;0.003	.|B;B;B;B;B	.|0.14023	.|0.01;0.002;0.005;0.003;0.004	T|T	0.66027|0.66027	-0.6025|-0.6025	5|10	.|0.05620	.|T	.|0.96	.|.	19.9573|19.9573	0.97224|0.97224	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1045;759;977;1391;1400	.|Q59FI2;F2Z3B8;Q5W9G3;P10586-2;P10586	.|.;.;.;.;PTPRF_HUMAN	H|I	783;824|1400;1391;1400;1391;759;472	.|ENSP00000353030:V1400I;ENSP00000398822:V1391I;ENSP00000361491:V1400I;ENSP00000361490:V1391I;ENSP00000387885:V759I;ENSP00000361484:V472I	.|ENSP00000353030:V1400I	R|V	+|+	2|1	0|0	PTPRF|PTPRF	43855996|43855996	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.224000|0.224000	0.24922|0.24922	3.275000|3.275000	0.51639|0.51639	2.794000|2.794000	0.96219|0.96219	0.655000|0.655000	0.94253|0.94253	CGT|GTC	.		0.597	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1		
TESK2	10420	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	45923405	45923405	+	Missense_Mutation	SNP	C	C	T	rs149714069	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:45923405C>T	ENST00000372086.3	-	2	453	c.53G>A	c.(52-54)cGt>cAt	p.R18H	TESK2_ENST00000341771.6_Missense_Mutation_p.R18H|TESK2_ENST00000451835.2_Missense_Mutation_p.R18H|TESK2_ENST00000486676.1_5'UTR|TESK2_ENST00000372084.1_Missense_Mutation_p.R18H|TESK2_ENST00000538496.1_Intron	NM_007170.2	NP_009101.2	Q96S53	TESK2_HUMAN	testis-specific kinase 2	18					actin cytoskeleton organization (GO:0030036)|focal adhesion assembly (GO:0048041)|protein phosphorylation (GO:0006468)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32	Acute lymphoblastic leukemia(166;0.155)					CTCTTCAAGACGCTCCACACG	0.443													C|||	21	0.00419329	0.0	0.0014	5008	,	,		18422	0.0		0.003	False		,,,				2504	0.0174				p.R18H		.											.	TESK2-624	0			c.G53A						.	C	HIS/ARG	0,3802		0,0,1901	122.0	123.0	123.0		53	5.1	1.0	1	dbSNP_134	123	17,8221		0,17,4102	yes	missense	TESK2	NM_007170.2	29	0,17,6003	TT,TC,CC		0.2064,0.0,0.1412	probably-damaging	18/572	45923405	17,12023	1901	4119	6020	SO:0001583	missense	10420	exon2			TCAAGACGCTCCA	AJ132545	CCDS41323.1	1p32	2010-04-27			ENSG00000070759	ENSG00000070759	2.7.12.1		11732	protein-coding gene	gene with protein product		604746				10512679	Standard	NM_007170		Approved		uc001cns.1	Q96S53	OTTHUMG00000007680	ENST00000372086.3:c.53G>A	1.37:g.45923405C>T	ENSP00000361158:p.Arg18His	80	1		114	47	NM_007170	0	0	1	1	0	Q5T422|Q5T423|Q8N520|Q9Y3Q6	Missense_Mutation	SNP	ENST00000372086.3	37	CCDS41323.1	4	0.0018315018315018315	0	0.0	1	0.0027624309392265192	0	0.0	3	0.00395778364116095	C	14.97	2.695295	0.48202	0.0	0.002064	ENSG00000070759	ENST00000372084;ENST00000372086;ENST00000372083;ENST00000341771;ENST00000451835	T;T;T;T	0.73681	-0.77;-0.75;-0.77;2.38	5.06	5.06	0.68205	.	0.000000	0.64402	D	0.000007	T	0.63977	0.2557	L	0.29908	0.895	0.40867	D	0.983889	B;B;B	0.34255	0.006;0.445;0.317	B;B;B	0.25140	0.001;0.058;0.026	T	0.69669	-0.5083	10	0.87932	D	0	-6.1105	18.4182	0.90577	0.0:1.0:0.0:0.0	.	18;18;18	B4DRH9;Q96S53-3;Q96S53	.;.;TESK2_HUMAN	H	18	ENSP00000361156:R18H;ENSP00000361158:R18H;ENSP00000343940:R18H;ENSP00000397244:R18H	ENSP00000343940:R18H	R	-	2	0	TESK2	45695992	0.994000	0.37717	1.000000	0.80357	0.993000	0.82548	3.091000	0.50199	2.365000	0.80145	0.585000	0.79938	CGT	C|0.998;T|0.002		0.443	TESK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020523.1	NM_007170	
PIK3R3	8503	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	46509408	46509410	+	In_Frame_Del	DEL	GTT	GTT	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	GTT	GTT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:46509408_46509410delGTT	ENST00000262741.5	-	10	2010_2012	c.1321_1323delAAC	c.(1321-1323)aacdel	p.N441del	PIK3R3_ENST00000488808.1_5'UTR|PIK3R3_ENST00000340332.6_In_Frame_Del_p.N346del|PIK3R3_ENST00000354242.4_In_Frame_Del_p.N382del|PIK3R3_ENST00000423209.1_In_Frame_Del_p.N382del|PIK3R3_ENST00000420542.1_In_Frame_Del_p.N441del|PIK3R3_ENST00000372006.1_In_Frame_Del_p.N441del|PIK3R3_ENST00000540385.1_In_Frame_Del_p.N487del	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	441	SH2 2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)			endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)				Isoprenaline(DB01064)	TGAGGGAGTCGTTGTGCTGAACC	0.532																																					p.441_441del		.											.	PIK3R3-1309	0			c.1321_1323del						.																																			SO:0001651	inframe_deletion	8503	exon10			GGAGTCGTTGTGC	BC021622	CCDS529.1	1p34.1	2013-02-14	2008-02-04		ENSG00000117461	ENSG00000117461		"""SH2 domain containing"""	8981	protein-coding gene	gene with protein product		606076				9524259	Standard	NM_003629		Approved	p55	uc001cpb.4	Q92569	OTTHUMG00000008096	ENST00000262741.5:c.1321_1323delAAC	1.37:g.46509408_46509410delGTT	ENSP00000262741:p.Asn441del	142	0		169	74	NM_003629	0	0	0	0	0	B2R9C1|D3DQ12|O60482|Q5T4P1|Q5T4P2	In_Frame_Del	DEL	ENST00000262741.5	37	CCDS529.1																																																																																			.		0.532	PIK3R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022171.1	NM_003629	
PIK3R3	8503	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	46509521	46509521	+	Missense_Mutation	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:46509521A>G	ENST00000262741.5	-	10	1899	c.1210T>C	c.(1210-1212)Tgt>Cgt	p.C404R	PIK3R3_ENST00000488808.1_5'UTR|RP4-533D7.4_ENST00000450004.1_RNA|PIK3R3_ENST00000340332.6_Missense_Mutation_p.C309R|PIK3R3_ENST00000354242.4_Missense_Mutation_p.C345R|PIK3R3_ENST00000423209.1_Missense_Mutation_p.C345R|PIK3R3_ENST00000420542.1_Missense_Mutation_p.C404R|PIK3R3_ENST00000372006.1_Missense_Mutation_p.C404R|PIK3R3_ENST00000540385.1_Missense_Mutation_p.C450R	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	404	SH2 2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)			endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)				Isoprenaline(DB01064)	TAGATCACACAGTGCTTCACT	0.483																																					p.C404R		.											.	PIK3R3-1309	0			c.T1210C						.						97.0	84.0	88.0					1																	46509521		2203	4300	6503	SO:0001583	missense	8503	exon10			TCACACAGTGCTT	BC021622	CCDS529.1	1p34.1	2013-02-14	2008-02-04		ENSG00000117461	ENSG00000117461		"""SH2 domain containing"""	8981	protein-coding gene	gene with protein product		606076				9524259	Standard	NM_003629		Approved	p55	uc001cpb.4	Q92569	OTTHUMG00000008096	ENST00000262741.5:c.1210T>C	1.37:g.46509521A>G	ENSP00000262741:p.Cys404Arg	100	0		113	53	NM_003629	0	0	16	33	17	B2R9C1|D3DQ12|O60482|Q5T4P1|Q5T4P2	Missense_Mutation	SNP	ENST00000262741.5	37	CCDS529.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.946217	0.73672	.	.	ENSG00000117461	ENST00000372006;ENST00000262741;ENST00000420542;ENST00000354242;ENST00000340332;ENST00000540385;ENST00000423209	D;D;D;D;D;D;D	0.89050	-2.46;-2.46;-2.46;-2.46;-2.46;-2.46;-2.46	5.64	5.64	0.86602	SH2 motif (5);	0.000000	0.85682	D	0.000000	D	0.95928	0.8674	M	0.93678	3.445	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;1.0	D	0.96984	0.9717	10	0.87932	D	0	-5.0396	15.862	0.79032	1.0:0.0:0.0:0.0	.	450;437;345;404	F6TDL0;Q7Z3W2;Q92569-2;Q92569	.;.;.;P55G_HUMAN	R	404;404;404;345;309;450;345	ENSP00000361075:C404R;ENSP00000262741:C404R;ENSP00000412546:C404R;ENSP00000346188:C345R;ENSP00000342484:C309R;ENSP00000439913:C450R;ENSP00000391431:C345R	ENSP00000262741:C404R	C	-	1	0	PIK3R3	46282108	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.145000	0.66743	0.460000	0.39030	TGT	A|1.000;G|0.000		0.483	PIK3R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022171.1	NM_003629	
EFCAB14	9813	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	47182080	47182080	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:47182080G>A	ENST00000371933.3	-	2	1197	c.221C>T	c.(220-222)cCg>cTg	p.P74L	EFCAB14_ENST00000544071.1_Missense_Mutation_p.P74L	NM_014774.2	NP_055589.1	O75071	EFC14_HUMAN	EF-hand calcium binding domain 14	74							calcium ion binding (GO:0005509)										ACCACAGAGCGGATAACAGAT	0.463																																					p.P74L		.											.	.	0			c.C221T						.						121.0	102.0	109.0					1																	47182080		2203	4300	6503	SO:0001583	missense	9813	exon2			CAGAGCGGATAAC	AB007963	CCDS30706.1	1p33	2013-01-10	2012-11-29	2012-11-29	ENSG00000159658	ENSG00000159658		"""EF-hand domain containing"""	29051	protein-coding gene	gene with protein product			"""KIAA0494"""	KIAA0494		9455484	Standard	NM_014774		Approved		uc001cqk.4	O75071	OTTHUMG00000007992	ENST00000371933.3:c.221C>T	1.37:g.47182080G>A	ENSP00000361001:p.Pro74Leu	238	0		264	107	NM_014774	0	0	46	80	34	D3DQ23|Q5SXB8	Missense_Mutation	SNP	ENST00000371933.3	37	CCDS30706.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.017430	0.75161	.	.	ENSG00000159658	ENST00000544071;ENST00000371933	T;T	0.56941	0.43;1.54	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.72447	0.3461	M	0.65498	2.005	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.74595	-0.3613	10	0.87932	D	0	-2.1344	19.0551	0.93059	0.0:0.0:1.0:0.0	.	74;74;74	F5H7K3;B7Z444;O75071	.;.;K0494_HUMAN	L	74	ENSP00000442465:P74L;ENSP00000361001:P74L	ENSP00000361001:P74L	P	-	2	0	KIAA0494	46954667	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.972000	0.93424	2.730000	0.93505	0.655000	0.94253	CCG	.		0.463	EFCAB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021931.1	NM_014774	
FOXD2	2306	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	1	47904233	47904233	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:47904233G>A	ENST00000334793.5	+	1	2545	c.426G>A	c.(424-426)caG>caA	p.Q142Q		NM_004474.3	NP_004465.3	O60548	FOXD2_HUMAN	forkhead box D2	142					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(4)	4				READ - Rectum adenocarcinoma(2;0.0908)		CCATCCTGCAGAGCCCCAAGA	0.687																																					p.Q142Q		.											.	FOXD2-226	0			c.G426A						.						41.0	48.0	46.0					1																	47904233		2203	4300	6503	SO:0001819	synonymous_variant	2306	exon1			CCTGCAGAGCCCC	AF042832	CCDS30708.1	1p34-p32	2008-02-05			ENSG00000186564	ENSG00000186564		"""Forkhead boxes"""	3803	protein-coding gene	gene with protein product		602211		FKHL17		9403061, 12621056	Standard	NM_004474		Approved	FREAC9	uc001crm.3	O60548	OTTHUMG00000007950	ENST00000334793.5:c.426G>A	1.37:g.47904233G>A		210	0		321	136	NM_004474	0	0	0	3	3	Q5SVZ3	Silent	SNP	ENST00000334793.5	37	CCDS30708.1																																																																																			.		0.687	FOXD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021831.1	NM_004474	
DMRTA2	63950	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	1	50885264	50885264	+	Silent	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:50885264C>T	ENST00000404795.3	-	3	1094	c.702G>A	c.(700-702)cgG>cgA	p.R234R	DMRTA2_ENST00000418121.1_Silent_p.R234R	NM_032110.2	NP_115486.1	Q96SC8	DMTA2_HUMAN	DMRT-like family A2	234	Gly-rich.				cerebral cortex regionalization (GO:0021796)|dopaminergic neuron differentiation (GO:0071542)|neuron fate specification (GO:0048665)|positive regulation of neuroblast proliferation (GO:0002052)|skeletal muscle cell differentiation (GO:0035914)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|lung(4)|pancreas(1)	6						CTGAGCCGGGCCGCACCTCTG	0.726																																					p.R234R	Colon(196;1651 2045 3292 36497 38236)|Esophageal Squamous(2;257 258 11567 27043 43804)	.											.	.	0			c.G702A						.																																			SO:0001819	synonymous_variant	63950	exon3			GCCGGGCCGCACC	AJ301580	CCDS44141.1	1p33	2008-08-04			ENSG00000142700	ENSG00000142700			13908	protein-coding gene	gene with protein product		614804				11863363	Standard	NM_032110		Approved		uc010onb.2	Q96SC8	OTTHUMG00000007884	ENST00000404795.3:c.702G>A	1.37:g.50885264C>T		18	0		109	50	NM_032110	0	0	0	0	0	Q5TFQ3	Silent	SNP	ENST00000404795.3	37	CCDS44141.1																																																																																			.		0.726	DMRTA2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351074.1	NM_032110	
BTF3L4	91408	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	52552390	52552390	+	Missense_Mutation	SNP	T	T	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:52552390T>G	ENST00000313334.8	+	6	705	c.437T>G	c.(436-438)gTa>gGa	p.V146G	BTF3L4_ENST00000472944.2_Missense_Mutation_p.V88G|BTF3L4_ENST00000489308.2_Nonstop_Mutation_p.*79E	NM_152265.4	NP_689478.1	Q96K17	BT3L4_HUMAN	basic transcription factor 3-like 4	146										endometrium(2)|kidney(1)|large_intestine(2)	5						TCAGATCTTGTAGAAAATTTT	0.318																																					p.X79E		.											.	BTF3L4-135	0			c.T235G						.						58.0	61.0	60.0					1																	52552390		2201	4299	6500	SO:0001583	missense	91408	exon5			ATCTTGTAGAAAA	BC021004	CCDS30713.1, CCDS44146.1, CCDS58001.1	1p32.3	2011-05-26			ENSG00000134717	ENSG00000134717			30547	protein-coding gene	gene with protein product						12477932	Standard	NM_001136497		Approved	MGC23908	uc001ctk.3	Q96K17	OTTHUMG00000008960	ENST00000313334.8:c.437T>G	1.37:g.52552390T>G	ENSP00000360664:p.Val146Gly	48	0		86	33	NM_001243767	0	0	0	0	0	B3KNJ1|D3DQ32|G3V1C6	Missense_Mutation	SNP	ENST00000313334.8	37	CCDS30713.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.38|18.38	3.611121|3.611121	0.66558|0.66558	.|.	.|.	ENSG00000134717|ENSG00000134717	ENST00000313334;ENST00000472944|ENST00000489308	.|.	.|.	.|.	5.71|5.71	5.71|5.71	0.89125|0.89125	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.84831|.	0.5559|.	M|M	0.91612|0.91612	3.225|3.225	0.80722|0.80722	D|D	1|1	D|.	0.56287|.	0.975|.	P|.	0.55577|.	0.779|.	D|.	0.88200|.	0.2883|.	9|.	0.62326|.	D|.	0.03|.	.|.	15.9869|15.9869	0.80160|0.80160	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	146|.	Q96K17|.	BT3L4_HUMAN|.	G|E	146;88|79	.|.	ENSP00000360664:V146G|.	V|X	+|+	2|1	0|0	BTF3L4|BTF3L4	52324978|52324978	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	7.424000|7.424000	0.80242|0.80242	2.171000|2.171000	0.68590|0.68590	0.533000|0.533000	0.62120|0.62120	GTA|TAG	.		0.318	BTF3L4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024848.1	NM_152265	
GPX7	2882	broad.mit.edu;bcgsc.ca	37	1	53068170	53068170	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:53068170C>T	ENST00000361314.4	+	1	127	c.89C>T	c.(88-90)gCg>gTg	p.A30V	GPX7_ENST00000459779.1_3'UTR	NM_015696.4	NP_056511.2	Q96SL4	GPX7_HUMAN	glutathione peroxidase 7	30					response to oxidative stress (GO:0006979)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	glutathione peroxidase activity (GO:0004602)|peroxidase activity (GO:0004601)			breast(1)|kidney(1)|lung(4)|upper_aerodigestive_tract(1)	7					Glutathione(DB00143)	GACTTCAAGGCGGTCAACATC	0.711																																					p.A30V		.											.	GPX7-90	0			c.C89T						.						28.0	21.0	23.0					1																	53068170		2197	4296	6493	SO:0001583	missense	2882	exon1			TCAAGGCGGTCAA	AF091092	CCDS569.1	1p32	2008-02-05			ENSG00000116157	ENSG00000116157			4559	protein-coding gene	gene with protein product		615784				15294905	Standard	NM_015696		Approved	FLJ14777, GPX6, NPGPx	uc001cue.3	Q96SL4	OTTHUMG00000008322	ENST00000361314.4:c.89C>T	1.37:g.53068170C>T	ENSP00000354677:p.Ala30Val	130	1		359	162	NM_015696	0	0	0	0	0	O95337|Q5T501	Missense_Mutation	SNP	ENST00000361314.4	37	CCDS569.1	.	.	.	.	.	.	.	.	.	.	C	8.016	0.758532	0.15846	.	.	ENSG00000116157	ENST00000361314	T	0.20881	2.04	3.84	1.86	0.25419	Thioredoxin-like fold (2);	0.219872	0.37304	N	0.002151	T	0.04724	0.0128	N	0.01529	-0.815	0.40666	D	0.982174	B	0.29886	0.26	B	0.17722	0.019	T	0.31420	-0.9944	10	0.07990	T	0.79	-8.9773	5.5388	0.17026	0.0:0.4412:0.0:0.5588	.	30	Q96SL4	GPX7_HUMAN	V	30	ENSP00000354677:A30V	ENSP00000354677:A30V	A	+	2	0	GPX7	52840758	0.993000	0.37304	0.998000	0.56505	0.998000	0.95712	1.254000	0.32897	0.526000	0.28541	0.655000	0.94253	GCG	.		0.711	GPX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022913.1	NM_015696	
COA7	65260	bcgsc.ca	37	1	53158531	53158531	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:53158531G>A	ENST00000371538.3	-	2	154	c.115C>T	c.(115-117)Cgg>Tgg	p.R39W	SELRC1_ENST00000486918.1_5'UTR	NM_023077.2	NP_075565.2														breast(1)|lung(3)|prostate(1)|urinary_tract(1)	6						TCCACCAGCCGATAGCAACCT	0.552																																					p.R39W		.											.	SELRC1-90	0			c.C115T						.						64.0	66.0	65.0					1																	53158531		2203	4300	6503	SO:0001583	missense	65260	exon2			CCAGCCGATAGCA																												ENST00000371538.3:c.115C>T	1.37:g.53158531G>A	ENSP00000360593:p.Arg39Trp	68	2		62	28	NM_023077	0	0	0	0	0		Missense_Mutation	SNP	ENST00000371538.3	37	CCDS570.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.047565	0.75846	.	.	ENSG00000162377	ENST00000371538	T	0.52057	0.68	6.0	5.02	0.67125	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.68366	0.2993	M	0.71036	2.16	0.58432	D	0.999995	D	0.89917	1.0	D	0.73708	0.981	T	0.70281	-0.4915	10	0.66056	D	0.02	-22.0507	17.9921	0.89172	0.0:0.0:0.8709:0.1291	.	39	Q96BR5	SELR1_HUMAN	W	39	ENSP00000360593:R39W	ENSP00000360593:R39W	R	-	1	2	SELRC1	52931119	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.779000	0.47734	2.848000	0.98002	0.655000	0.94253	CGG	.		0.552	SELRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023462.1		
PODN	127435	broad.mit.edu	37	1	53535706	53535706	+	Missense_Mutation	SNP	G	G	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:53535706G>T	ENST00000312553.5	+	2	330	c.323G>T	c.(322-324)gGg>gTg	p.G108V	PODN_ENST00000395871.2_Missense_Mutation_p.G108V|RP11-334A14.5_ENST00000447867.1_RNA|PODN_ENST00000371500.3_Missense_Mutation_p.G89V	NM_001199081.1|NM_153703.4	NP_001186010.1|NP_714914.2	Q7Z5L7	PODN_HUMAN	podocan	60					negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GAGGAGCCCGGGCCTGGCCCA	0.682																																					p.G108V		.											.	PODN-92	0			c.G323T						.						26.0	31.0	29.0					1																	53535706		2203	4299	6502	SO:0001583	missense	127435	exon2			AGCCCGGGCCTGG	AY313607	CCDS573.1, CCDS55601.1, CCDS55602.1	1p32.3	2008-02-05			ENSG00000174348	ENSG00000174348		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	23174	protein-coding gene	gene with protein product	"""podocan proteoglycan"""	608661					Standard	NM_153703		Approved	PCAN, PODOCAN, MGC24995, SLRR5A	uc010onr.2	Q7Z5L7	OTTHUMG00000008934	ENST00000312553.5:c.323G>T	1.37:g.53535706G>T	ENSP00000308315:p.Gly108Val	119	0		299	7	NM_153703	0	0	0	0	0	B4DKN5|B4E373|Q5VVZ2|Q5VVZ3|Q6PIR3|Q6UXL8|Q8N641	Missense_Mutation	SNP	ENST00000312553.5	37	CCDS573.1	.	.	.	.	.	.	.	.	.	.	G	6.582	0.475725	0.12521	.	.	ENSG00000174348	ENST00000371500;ENST00000395871;ENST00000312553	T;T;T	0.60299	0.88;0.2;0.99	4.22	-3.03	0.05429	.	1.911950	0.02272	N	0.068519	T	0.34164	0.0888	N	0.08118	0	0.09310	N	1	B;B;B	0.21452	0.056;0.0;0.0	B;B;B	0.24541	0.054;0.002;0.002	T	0.10109	-1.0644	10	0.23891	T	0.37	.	4.8783	0.13667	0.184:0.0:0.2484:0.5676	.	108;89;108	Q7Z5L7-4;Q7Z5L7-2;Q7Z5L7-3	.;.;.	V	89;108;108	ENSP00000360555:G89V;ENSP00000379212:G108V;ENSP00000308315:G108V	ENSP00000308315:G108V	G	+	2	0	PODN	53308294	0.000000	0.05858	0.000000	0.03702	0.112000	0.19704	-0.336000	0.07863	-0.927000	0.03766	-0.714000	0.03626	GGG	.		0.682	PODN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024735.1	NM_153703	
TACSTD2	4070	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	59042424	59042424	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:59042424G>A	ENST00000371225.2	-	1	742	c.405C>T	c.(403-405)cgC>cgT	p.R135R		NM_002353.2	NP_002344.2	P09758	TACD2_HUMAN	tumor-associated calcium signal transducer 2	135	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of branching involved in ureteric bud morphogenesis (GO:0090191)|negative regulation of cell motility (GO:2000146)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of stress fiber assembly (GO:0051497)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of stem cell differentiation (GO:2000738)|regulation of epithelial cell proliferation (GO:0050678)|ureteric bud morphogenesis (GO:0060675)|visual perception (GO:0007601)	basal plasma membrane (GO:0009925)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|nucleus (GO:0005634)	receptor activity (GO:0004872)					all_cancers(7;6.54e-05)					CCTTGTCCGTGCGGCGCACGC	0.697																																					p.R135R		.											.	TACSTD2-90	0			c.C405T						.						27.0	22.0	24.0					1																	59042424		2200	4298	6498	SO:0001819	synonymous_variant	4070	exon1			GTCCGTGCGGCGC	X77753	CCDS609.1	1p32	2008-02-05			ENSG00000184292	ENSG00000184292			11530	protein-coding gene	gene with protein product		137290		M1S1		8382772, 11306819	Standard	NM_002353		Approved	TROP2, GA733-1, EGP-1	uc001cyz.4	P09758	OTTHUMG00000010067	ENST00000371225.2:c.405C>T	1.37:g.59042424G>A		34	1		141	67	NM_002353	0	0	1	1	0	Q15658|Q6FG48|Q7Z7Q4|Q96QD2	Silent	SNP	ENST00000371225.2	37	CCDS609.1																																																																																			.		0.697	TACSTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027818.1	NM_002353	
HOOK1	51361	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	60312772	60312772	+	Silent	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:60312772C>T	ENST00000371208.3	+	10	1101	c.844C>T	c.(844-846)Cta>Tta	p.L282L	HOOK1_ENST00000395561.2_Silent_p.L240L|HOOK1_ENST00000465876.1_3'UTR	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	282	Sufficient for interaction with microtubules.				early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)|spermatid development (GO:0007286)	FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					TGAAAAGCAGCTAATCGAATT	0.353																																					p.L282L		.											.	HOOK1-154	0			c.C844T						.						114.0	119.0	117.0					1																	60312772		2203	4299	6502	SO:0001819	synonymous_variant	51361	exon10			AAGCAGCTAATCG	AF044923	CCDS612.1	1p32.1	2013-08-21	2013-08-21		ENSG00000134709	ENSG00000134709			19884	protein-coding gene	gene with protein product		607820	"""hook homolog 1 (Drosophila)"""			9927460	Standard	XM_005270922		Approved	HK1	uc001czo.3	Q9UJC3	OTTHUMG00000008990	ENST00000371208.3:c.844C>T	1.37:g.60312772C>T		127	0		139	58	NM_015888	0	0	3	3	0	A8K8E9|A8MU44|B4DX15|O60561|Q5TG44	Silent	SNP	ENST00000371208.3	37	CCDS612.1																																																																																			.		0.353	HOOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024934.1	NM_015888	
ATG4C	84938	broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	63282309	63282309	+	Missense_Mutation	SNP	A	A	T	rs11545528		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:63282309A>T	ENST00000317868.4	+	4	431	c.224A>T	c.(223-225)aAt>aTt	p.N75I	ATG4C_ENST00000371120.3_Missense_Mutation_p.N75I	NM_032852.3	NP_116241.2	Q96DT6	ATG4C_HUMAN	autophagy related 4C, cysteine peptidase	75					autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|protein targeting to membrane (GO:0006612)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)	cysteine-type endopeptidase activity (GO:0004197)|peptidase activity (GO:0008233)		ATG4C/FBXO38(2)	NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(3)|ovary(1)|prostate(2)	19						ATTGCAGGAAATGTAGAAGAA	0.383																																					p.N75I		.											.	ATG4C-91	0			c.A224T						.						74.0	73.0	73.0					1																	63282309		2203	4300	6503	SO:0001583	missense	84938	exon4			CAGGAAATGTAGA	AK027773	CCDS623.1	1p31.3	2014-02-12	2012-06-06	2005-09-11	ENSG00000125703	ENSG00000125703			16040	protein-coding gene	gene with protein product		611339	"""AUT (S. cerevisiae)-like 1, cysteine endopeptidase; AUT-like 1, cysteine endopeptidase (S. cerevisiae)"", ""APG4 autophagy 4 homolog C (S. cerevisiae)"", ""ATG4 autophagy related 4 homolog C (S. cerevisiae)"""	AUTL1, APG4C		12446702	Standard	NM_032852		Approved	FLJ14867, AUTL3	uc001dau.3	Q96DT6	OTTHUMG00000009142	ENST00000317868.4:c.224A>T	1.37:g.63282309A>T	ENSP00000322159:p.Asn75Ile	90	1		103	42	NM_178221	0	0	6	10	4	A6NLR8|D3DQ58|Q96K04	Missense_Mutation	SNP	ENST00000317868.4	37	CCDS623.1	.	.	.	.	.	.	.	.	.	.	A	16.73	3.202858	0.58234	.	.	ENSG00000125703	ENST00000317868;ENST00000371120;ENST00000443289;ENST00000540025;ENST00000371118	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	5.31	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.32645	0.0836	M	0.76574	2.34	0.58432	D	0.999997	P	0.43352	0.804	P	0.49887	0.625	T	0.17930	-1.0353	10	0.19590	T	0.45	-22.5309	9.4386	0.38655	0.7952:0.0:0.2048:0.0	.	75	Q96DT6	ATG4C_HUMAN	I	75	ENSP00000322159:N75I;ENSP00000360161:N75I;ENSP00000396614:N75I;ENSP00000360159:N75I	ENSP00000322159:N75I	N	+	2	0	ATG4C	63054897	1.000000	0.71417	0.999000	0.59377	0.953000	0.61014	5.006000	0.63978	0.087000	0.17167	-0.250000	0.11733	AAT	A|0.999;G|0.000		0.383	ATG4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025332.2	NM_032852	
EFCAB7	84455	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	63999139	63999139	+	Silent	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:63999139T>C	ENST00000371088.4	+	5	747	c.501T>C	c.(499-501)taT>taC	p.Y167Y		NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN	EF-hand calcium binding domain 7	167	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						GTAAATTATATATGACAACCA	0.398																																					p.Y167Y		.											.	EFCAB7-68	0			c.T501C						.						64.0	67.0	66.0					1																	63999139		2203	4299	6502	SO:0001819	synonymous_variant	84455	exon5			ATTATATATGACA	BC015814	CCDS30737.1	1p31.3	2013-01-10			ENSG00000203965	ENSG00000203965		"""EF-hand domain containing"""	29379	protein-coding gene	gene with protein product						11347906	Standard	NM_032437		Approved	KIAA1799, RP4-534K7.1	uc001dbf.3	A8K855	OTTHUMG00000008983	ENST00000371088.4:c.501T>C	1.37:g.63999139T>C		52	0		62	30	NM_032437	0	0	6	16	10	Q658P0|Q96B95|Q96JM6	Silent	SNP	ENST00000371088.4	37	CCDS30737.1																																																																																			.		0.398	EFCAB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024910.1	NM_032437	
DIRAS3	9077	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	68512838	68512838	+	Missense_Mutation	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:68512838A>G	ENST00000370981.1	-	4	779	c.143T>C	c.(142-144)gTg>gCg	p.V48A	GNG12-AS1_ENST00000420587.1_RNA|GNG12-AS1_ENST00000413628.1_RNA|DIRAS3_ENST00000395201.1_Missense_Mutation_p.V48A			O95661	DIRA3_HUMAN	DIRAS family, GTP-binding RAS-like 3	48					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of gene expression by genetic imprinting (GO:0006349)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						ACTTTTCCCCACACCAGCGGT	0.597																																					p.V48A		.											.	DIRAS3-848	0			c.T143C						.						93.0	95.0	94.0					1																	68512838		2203	4300	6503	SO:0001583	missense	9077	exon2			TTCCCCACACCAG	U96750	CCDS641.1	1p31	2014-05-09		2005-01-27	ENSG00000162595	ENSG00000162595			687	protein-coding gene	gene with protein product		605193	"""ras homolog gene family, member I"""	ARHI		9874798	Standard	XM_006711027		Approved	NOEY2	uc001ded.3	O95661	OTTHUMG00000009544	ENST00000370981.1:c.143T>C	1.37:g.68512838A>G	ENSP00000360020:p.Val48Ala	215	1		204	82	NM_004675	0	0	8	9	1	B3KMP3	Missense_Mutation	SNP	ENST00000370981.1	37	CCDS641.1	.	.	.	.	.	.	.	.	.	.	A	18.23	3.578956	0.65878	.	.	ENSG00000162595	ENST00000370981;ENST00000395201	D;D	0.82711	-1.64;-1.64	4.1	4.1	0.47936	Small GTP-binding protein domain (1);	.	.	.	.	D	0.91965	0.7455	H	0.95712	3.71	0.54753	D	0.999983	D	0.69078	0.997	D	0.72075	0.976	D	0.94001	0.7275	9	0.87932	D	0	.	13.0691	0.59050	1.0:0.0:0.0:0.0	.	48	O95661	DIRA3_HUMAN	A	48	ENSP00000360020:V48A;ENSP00000378627:V48A	ENSP00000360020:V48A	V	-	2	0	DIRAS3	68285426	1.000000	0.71417	0.391000	0.26233	0.143000	0.21401	6.432000	0.73400	1.621000	0.50320	0.460000	0.39030	GTG	.		0.597	DIRAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026354.2	NM_004675	
ZNF326	284695	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	90486370	90486370	+	Silent	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:90486370C>T	ENST00000340281.4	+	10	1337	c.1194C>T	c.(1192-1194)caC>caT	p.H398H	ZNF326_ENST00000370447.3_Silent_p.H309H|ZNF326_ENST00000455342.2_Silent_p.H192H	NM_182976.2	NP_892021.1	Q5BKZ1	ZN326_HUMAN	zinc finger protein 326	398					mRNA processing (GO:0006397)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of DNA-templated transcription, elongation (GO:0032784)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	DBIRD complex (GO:0044609)|nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		TAGATGATCACATGATGAAGG	0.338																																					p.H398H		.											.	ZNF326-91	0			c.C1194T						.						148.0	146.0	147.0					1																	90486370		2203	4300	6503	SO:0001819	synonymous_variant	284695	exon10			TGATCACATGATG	BC013102	CCDS727.1, CCDS728.1	1p22	2012-04-19			ENSG00000162664	ENSG00000162664		"""Zinc fingers, C2H2-type"""	14104	protein-coding gene	gene with protein product	"""ZNF-protein interacting with nuclear mRNPs and DBC1"""	614601				22446626	Standard	NM_182976		Approved	Zfp326, ZAN75, FLJ20403, ZIRD	uc001dnq.2	Q5BKZ1	OTTHUMG00000010675	ENST00000340281.4:c.1194C>T	1.37:g.90486370C>T		186	0		167	60	NM_182976	0	0	26	44	18	A8MYX1|B4DLN0|B4E179|Q5VW93|Q5VW94|Q5VW96|Q5VW97|Q6NSA2|Q7Z638|Q7Z6C2	Silent	SNP	ENST00000340281.4	37	CCDS727.1																																																																																			.		0.338	ZNF326-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029428.2	NM_181781	
HFM1	164045	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	91790300	91790300	+	Missense_Mutation	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:91790300A>G	ENST00000370425.3	-	21	2457	c.2359T>C	c.(2359-2361)Tat>Cat	p.Y787H	HFM1_ENST00000370424.3_Missense_Mutation_p.Y466H|HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000294696.5_Missense_Mutation_p.Y19H	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	787	SEC63.				resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		GTAATATAATACCAAGCCATC	0.308																																					p.Y787H		.											.	HFM1-112	0			c.T2359C						.						43.0	47.0	45.0					1																	91790300		2200	4299	6499	SO:0001583	missense	164045	exon21			TATAATACCAAGC	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.2359T>C	1.37:g.91790300A>G	ENSP00000359454:p.Tyr787His	143	0		180	83	NM_001017975	0	0	0	1	1	B1B0B6|Q8N9Q0	Missense_Mutation	SNP	ENST00000370425.3	37	CCDS30769.2	.	.	.	.	.	.	.	.	.	.	A	24.3	4.520889	0.85495	.	.	ENSG00000162669	ENST00000370425;ENST00000294696;ENST00000370424;ENST00000370421	T;T;T	0.76968	-1.06;-1.06;-1.06	5.43	5.43	0.79202	Sec63 domain (2);	0.000000	0.85682	D	0.000000	D	0.84924	0.5580	M	0.75264	2.295	0.51482	D	0.999924	D;D;D	0.89917	0.995;1.0;1.0	D;D;D	0.91635	0.914;0.999;0.996	D	0.86253	0.1650	10	0.52906	T	0.07	.	15.478	0.75501	1.0:0.0:0.0:0.0	.	466;42;787	A6NGI5;B1B0B5;A2PYH4	.;.;HFM1_HUMAN	H	787;19;466;471	ENSP00000359454:Y787H;ENSP00000294696:Y19H;ENSP00000359453:Y466H	ENSP00000294696:Y19H	Y	-	1	0	HFM1	91562888	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.237000	0.95368	2.066000	0.61787	0.455000	0.32223	TAT	.		0.308	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975	
TGFBR3	7049	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	92200429	92200429	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:92200429C>T	ENST00000525962.1	-	4	533	c.472G>A	c.(472-474)Gaa>Aaa	p.E158K	TGFBR3_ENST00000370399.2_Missense_Mutation_p.E158K|TGFBR3_ENST00000212355.4_Missense_Mutation_p.E158K|TGFBR3_ENST00000468996.2_5'UTR			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	158					blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		AACAGATGTTCATTTCCATGG	0.423																																					p.E158K		.											.	TGFBR3-93	0			c.G472A						.						174.0	175.0	175.0					1																	92200429		2203	4300	6503	SO:0001583	missense	7049	exon5			GATGTTCATTTCC	L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"""Proteoglycans / Cell surface : Other"""	11774	protein-coding gene	gene with protein product	"""betaglycan proteoglycan"""	600742	"""transforming growth factor, beta receptor III (betaglycan, 300kDa)"""			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.472G>A	1.37:g.92200429C>T	ENSP00000436127:p.Glu158Lys	117	2		98	23	NM_001195683	0	0	129	202	73	A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Missense_Mutation	SNP	ENST00000525962.1	37	CCDS30770.1	.	.	.	.	.	.	.	.	.	.	C	18.33	3.600751	0.66332	.	.	ENSG00000069702	ENST00000212355;ENST00000370399;ENST00000525962;ENST00000465892	T;T;T;T	0.35048	1.33;1.33;1.33;1.33	5.88	4.02	0.46733	.	0.467858	0.27181	N	0.020552	T	0.25044	0.0608	M	0.61703	1.905	0.48696	D	0.999694	P;P	0.48294	0.617;0.908	B;P	0.46585	0.242;0.521	T	0.02743	-1.1116	10	0.29301	T	0.29	-6.9393	10.6494	0.45638	0.0:0.7964:0.0:0.2036	.	158;158	Q03167-2;Q03167	.;TGBR3_HUMAN	K	158	ENSP00000212355:E158K;ENSP00000359426:E158K;ENSP00000436127:E158K;ENSP00000432638:E158K	ENSP00000212355:E158K	E	-	1	0	TGFBR3	91973017	0.964000	0.33143	0.987000	0.45799	0.994000	0.84299	2.012000	0.40932	0.840000	0.34995	0.644000	0.83932	GAA	.		0.423	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382308.1	NM_003243	
KIAA1107	23285	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	92647016	92647016	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:92647016C>T	ENST00000370378.4	+	8	2560	c.2462C>T	c.(2461-2463)tCc>tTc	p.S821F	KIAA1107_ENST00000409154.4_Missense_Mutation_p.S876F	NM_015237.2	NP_056052.2	Q9UPP5	K1107_HUMAN	KIAA1107	876										breast(4)|central_nervous_system(1)|endometrium(3)|kidney(2)|prostate(1)|skin(3)	14						ACCACCTCCTCCGATGACATA	0.483																																					p.S821F		.											.	.	0			c.C2462T						.						60.0	55.0	56.0					1																	92647016		692	1591	2283	SO:0001583	missense	23285	exon8			CCTCCTCCGATGA	AB029030	CCDS44172.1	1p22.1	2008-02-05			ENSG00000069712	ENSG00000069712			29192	protein-coding gene	gene with protein product						10470851	Standard	NM_015237		Approved		uc010otd.2	Q9UPP5	OTTHUMG00000010292	ENST00000370378.4:c.2462C>T	1.37:g.92647016C>T	ENSP00000359404:p.Ser821Phe	160	0		196	77	NM_015237	0	0	1	7	6	O14767|Q8N3X7	Missense_Mutation	SNP	ENST00000370378.4	37	CCDS44172.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.217530	0.79352	.	.	ENSG00000069712	ENST00000409154;ENST00000370378	T;T	0.16597	2.33;2.34	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.38161	0.1030	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.11421	-1.0588	10	0.87932	D	0	.	20.3207	0.98668	0.0:1.0:0.0:0.0	.	821	E9PEZ5	.	F	876;821	ENSP00000386957:S876F;ENSP00000359404:S821F	ENSP00000359404:S821F	S	+	2	0	KIAA1107	92419604	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.247000	0.78257	2.813000	0.96785	0.561000	0.74099	TCC	.		0.483	KIAA1107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028375.3	XM_034086	
HIAT1	64645	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	100527406	100527406	+	Silent	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:100527406T>C	ENST00000370152.3	+	5	523	c.387T>C	c.(385-387)gtT>gtC	p.V129V	RP4-714D9.2_ENST00000432294.1_RNA	NM_033055.2	NP_149044.2	Q96MC6	HIAT1_HUMAN	hippocampus abundant transcript 1	129					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		ACTTTGCTGTTATCTCTGTTT	0.348																																					p.V129V		.											.	HIAT1-90	0			c.T387C						.						233.0	214.0	221.0					1																	100527406		2203	4300	6503	SO:0001819	synonymous_variant	64645	exon5			TGCTGTTATCTCT	AK096669	CCDS763.1	1p21.3	2008-02-05			ENSG00000156875	ENSG00000156875			23363	protein-coding gene	gene with protein product						9299464	Standard	NM_033055		Approved	DKFZP564L0864	uc001dst.3	Q96MC6	OTTHUMG00000010755	ENST00000370152.3:c.387T>C	1.37:g.100527406T>C		128	0		125	45	NM_033055	0	0	32	56	24	Q6P2N7|Q8N8K2|Q8NBV3|Q96NY0|Q9NT25	Silent	SNP	ENST00000370152.3	37	CCDS763.1	.	.	.	.	.	.	.	.	.	.	T	8.923	0.961592	0.18583	.	.	ENSG00000156875	ENST00000421661	.	.	.	5.3	1.71	0.24356	.	.	.	.	.	T	0.35828	0.0945	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.17653	-1.0362	4	.	.	.	-19.0114	5.2596	0.15565	0.1206:0.2083:0.0:0.6711	.	.	.	.	H	68	.	.	Y	+	1	0	HIAT1	100299994	0.998000	0.40836	0.999000	0.59377	0.993000	0.82548	0.444000	0.21661	0.036000	0.15547	-0.256000	0.11100	TAT	.		0.348	HIAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029657.1	NM_033055	
SASS6	163786	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	100586978	100586978	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:100586978C>T	ENST00000287482.5	-	5	579	c.439G>A	c.(439-441)Gtg>Atg	p.V147M	SASS6_ENST00000535161.1_De_novo_Start_InFrame|SASS6_ENST00000462159.1_5'UTR	NM_194292.1	NP_919268.1	Q6UVJ0	SAS6_HUMAN	spindle assembly 6 homolog (C. elegans)	147					centriole replication (GO:0007099)|centrosome duplication (GO:0051298)	centriole (GO:0005814)|centrosome (GO:0005813)|deuterosome (GO:0098536)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	19		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)		TTTATCTCCACATCATTTCCA	0.313																																					p.V147M		.											.	SASS6-70	0			c.G439A						.						65.0	67.0	66.0					1																	100586978		2202	4300	6502	SO:0001583	missense	163786	exon5			TCTCCACATCATT	AL834265	CCDS764.1	1p21.3	2008-02-05			ENSG00000156876	ENSG00000156876			25403	protein-coding gene	gene with protein product		609321				15665853, 14654843	Standard	NM_194292		Approved	DKFZp761A078, SAS-6, FLJ22097, SAS6	uc001dsu.3	Q6UVJ0	OTTHUMG00000010754	ENST00000287482.5:c.439G>A	1.37:g.100586978C>T	ENSP00000287482:p.Val147Met	43	0		53	23	NM_194292	0	0	4	6	2	D3DT55|Q8N3K0	Missense_Mutation	SNP	ENST00000287482.5	37	CCDS764.1	.	.	.	.	.	.	.	.	.	.	C	12.66	2.005749	0.35415	.	.	ENSG00000156876	ENST00000287482;ENST00000539329	T	0.32988	1.43	5.61	2.7	0.31948	.	0.578378	0.18273	N	0.146261	T	0.05914	0.0154	N	0.08118	0	0.80722	D	1	B	0.16396	0.017	B	0.17722	0.019	T	0.10086	-1.0645	10	0.48119	T	0.1	-3.8036	5.9814	0.19409	0.1299:0.5609:0.0:0.3092	.	147	Q6UVJ0	SAS6_HUMAN	M	147;120	ENSP00000287482:V147M	ENSP00000287482:V147M	V	-	1	0	SASS6	100359566	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.670000	0.25157	0.845000	0.35118	0.655000	0.94253	GTG	.		0.313	SASS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029656.2	NM_194292	
VAV3	10451	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	108298065	108298065	+	Missense_Mutation	SNP	A	A	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:108298065A>C	ENST00000370056.4	-	12	1431	c.1157T>G	c.(1156-1158)cTa>cGa	p.L386R	VAV3_ENST00000371846.4_Missense_Mutation_p.L321R|VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000527011.1_Missense_Mutation_p.L386R	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	386					angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of signal transduction (GO:0009967)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|vesicle fusion (GO:0006906)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|SH3/SH2 adaptor activity (GO:0005070)			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		CTCTATAGATAGCTGAAACTG	0.363																																					p.L386R		.											.	VAV3-1339	0			c.T1157G						.						79.0	78.0	78.0					1																	108298065		2203	4300	6503	SO:0001583	missense	10451	exon12			ATAGATAGCTGAA	AF118886	CCDS785.1, CCDS44181.1	1p13.3	2013-02-14	2007-07-25		ENSG00000134215	ENSG00000134215		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12659	protein-coding gene	gene with protein product		605541	"""vav 3 oncogene"""				Standard	NM_001079874		Approved		uc001dvk.1	Q9UKW4	OTTHUMG00000010995	ENST00000370056.4:c.1157T>G	1.37:g.108298065A>C	ENSP00000359073:p.Leu386Arg	83	0		69	19	NM_006113	0	0	1	1	0	B1AMM0|B1APV5|B4E232|B7ZLR1|E9PQ97|O60498|O95230|Q9Y5X8	Missense_Mutation	SNP	ENST00000370056.4	37	CCDS785.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	7.093|7.093	0.572582|0.572582	0.13623|0.13623	.|.	.|.	ENSG00000134215|ENSG00000134215	ENST00000370056;ENST00000527011;ENST00000371846|ENST00000490388	T;T;T|.	0.66099|.	-0.19;-0.19;-0.19|.	5.61|5.61	5.61|5.61	0.85477|0.85477	Dbl homology (DH) domain (2);|.	0.305457|.	0.32120|.	N|.	0.006549|.	T|T	0.30103|0.30103	0.0754|0.0754	N|N	0.22421|0.22421	0.69|0.69	0.40033|0.40033	D|D	0.975551|0.975551	B;B;B;B|.	0.02656|.	0.0;0.0;0.0;0.0|.	B;B;B;B|.	0.04013|.	0.001;0.0;0.001;0.001|.	T|T	0.20042|0.20042	-1.0287|-1.0287	10|5	0.15952|.	T|.	0.53|.	.|.	10.9349|10.9349	0.47239|0.47239	0.9273:0.0:0.0727:0.0|0.9273:0.0:0.0727:0.0	.|.	386;386;321;386|.	B7ZLR1;E9PQ97;B4DHL6;Q9UKW4|.	.;.;.;VAV3_HUMAN|.	R|D	386;386;321|381	ENSP00000359073:L386R;ENSP00000432540:L386R;ENSP00000360912:L321R|.	ENSP00000359073:L386R|.	L|Y	-|-	2|1	0|0	VAV3|VAV3	108099588|108099588	0.942000|0.942000	0.31987|0.31987	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	1.530000|1.530000	0.36007|0.36007	2.134000|2.134000	0.65973|0.65973	0.533000|0.533000	0.62120|0.62120	CTA|TAT	.		0.363	VAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030242.2	NM_006113	
HENMT1	113802	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	109197353	109197353	+	Missense_Mutation	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:109197353A>G	ENST00000370032.5	-	5	803	c.383T>C	c.(382-384)aTa>aCa	p.I128T	HENMT1_ENST00000493676.1_5'UTR|HENMT1_ENST00000402983.1_Missense_Mutation_p.I128T|HENMT1_ENST00000370031.1_Missense_Mutation_p.I128T	NM_144584.2	NP_653185.2	Q5T8I9	HENMT_HUMAN	HEN1 methyltransferase homolog 1 (Arabidopsis)	128					gene silencing by RNA (GO:0031047)|piRNA metabolic process (GO:0034587)|RNA methylation (GO:0001510)	P granule (GO:0043186)	metal ion binding (GO:0046872)|O-methyltransferase activity (GO:0008171)|RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	16						AATACACGTTATCAAGTCAAA	0.373																																					p.I128T		.											.	HENMT1-93	0			c.T383C						.						82.0	75.0	77.0					1																	109197353		2203	4300	6503	SO:0001583	missense	113802	exon5			CACGTTATCAAGT		CCDS787.1	1p13.3	2011-01-28	2011-01-28	2011-01-28	ENSG00000162639	ENSG00000162639			26400	protein-coding gene	gene with protein product	"""HEN1 methyltransferase homolog (Arabidopsis)"""	612178	"""chromosome 1 open reading frame 59"""	C1orf59			Standard	NM_144584		Approved	FLJ30525, HEN1	uc001dvt.4	Q5T8I9	OTTHUMG00000011123	ENST00000370032.5:c.383T>C	1.37:g.109197353A>G	ENSP00000359049:p.Ile128Thr	185	1		209	95	NM_144584	0	0	3	7	4	A8MRR6|B1AM16|B1AM17|Q96EJ7|Q96NN0	Missense_Mutation	SNP	ENST00000370032.5	37	CCDS787.1	.	.	.	.	.	.	.	.	.	.	A	18.26	3.584106	0.65992	.	.	ENSG00000162639	ENST00000402983;ENST00000370031;ENST00000370032;ENST00000420055	T;T;T;T	0.58652	0.32;0.32;0.32;0.32	5.1	3.98	0.46160	.	0.371267	0.31210	N	0.008058	T	0.60958	0.2309	M	0.81682	2.555	0.43347	D	0.995407	D	0.53619	0.961	P	0.55749	0.783	T	0.67241	-0.5720	10	0.72032	D	0.01	.	10.6843	0.45833	0.923:0.0:0.077:0.0	.	128	Q5T8I9	HENMT_HUMAN	T	128	ENSP00000385655:I128T;ENSP00000359048:I128T;ENSP00000359049:I128T;ENSP00000403953:I128T	ENSP00000359048:I128T	I	-	2	0	HENMT1	108998876	1.000000	0.71417	0.691000	0.30163	0.910000	0.53928	5.957000	0.70323	0.894000	0.36317	0.528000	0.53228	ATA	.		0.373	HENMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030592.1	NM_144584	
KIAA1324	57535	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	109740206	109740206	+	Frame_Shift_Del	DEL	C	C	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:109740206delC	ENST00000369939.3	+	16	2415	c.2232delC	c.(2230-2232)atcfs	p.I744fs	KIAA1324_ENST00000529753.1_Frame_Shift_Del_p.I657fs|KIAA1324_ENST00000369938.1_3'UTR	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324	744					cellular response to starvation (GO:0009267)|macroautophagy (GO:0016236)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of autophagic vacuole assembly (GO:2000786)|positive regulation of vacuole organization (GO:0044090)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		CAGTCATCATCCCCCCAGAGG	0.552																																					p.I744fs		.											.	KIAA1324-157	0			c.2232delC						.						63.0	57.0	59.0					1																	109740206		2203	4300	6503	SO:0001589	frameshift_variant	57535	exon16			CATCATCCCCCCA	AK057647	CCDS794.1, CCDS58015.1	1p13.3	2008-09-18			ENSG00000116299	ENSG00000116299			29618	protein-coding gene	gene with protein product	"""estrogen induced gene 121"""	611298				10718198, 16322283	Standard	NM_020775		Approved	maba1, EIG121	uc021orb.1	Q6UXG2	OTTHUMG00000011725	ENST00000369939.3:c.2232delC	1.37:g.109740206delC	ENSP00000358955:p.Ile744fs	82	0		102	49	NM_020775	0	0	0	0	0	Q08AE6|Q5T5C9|Q5T5D0|Q5T5D1|Q9P2M2	Frame_Shift_Del	DEL	ENST00000369939.3	37	CCDS794.1																																																																																			.		0.552	KIAA1324-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032389.2	NM_020775	
CELSR2	1952	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	109793092	109793092	+	Missense_Mutation	SNP	C	C	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:109793092C>G	ENST00000271332.3	+	1	452	c.391C>G	c.(391-393)Ctg>Gtg	p.L131V		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	131					cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CAAGCTCACACTGCCCGAGGA	0.652																																					p.L131V	NSCLC(158;1285 2011 34800 34852 42084)	.											.	CELSR2-526	0			c.C391G						.						59.0	63.0	61.0					1																	109793092		2203	4300	6503	SO:0001583	missense	1952	exon1			CTCACACTGCCCG	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.391C>G	1.37:g.109793092C>G	ENSP00000271332:p.Leu131Val	126	0		128	57	NM_001408	0	0	1	2	1	Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	CCDS796.1	.	.	.	.	.	.	.	.	.	.	N	10.94	1.493843	0.26774	.	.	ENSG00000143126	ENST00000271332	T	0.68181	-0.31	5.49	2.46	0.29980	.	.	.	.	.	T	0.13286	0.0322	N	0.08118	0	0.23309	N	0.997933	P	0.45044	0.849	B	0.33846	0.171	T	0.26710	-1.0095	9	0.05351	T	0.99	.	7.1469	0.25587	0.1392:0.7129:0.0:0.1479	.	131	Q9HCU4	CELR2_HUMAN	V	131	ENSP00000271332:L131V	ENSP00000271332:L131V	L	+	1	2	CELSR2	109594615	0.069000	0.21087	0.956000	0.39512	0.664000	0.39144	0.391000	0.20784	0.704000	0.31869	0.555000	0.69702	CTG	.		0.652	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408	
GPR61	83873	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	110085867	110085867	+	Missense_Mutation	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:110085867A>G	ENST00000527748.1	+	2	906	c.223A>G	c.(223-225)Aaa>Gaa	p.K75E	RP5-1160K1.8_ENST00000526411.1_RNA	NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	75						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		TGCCCTCCGAAAATTTGTCTT	0.607																																					p.K75E		.											.	GPR61-91	0			c.A223G						.						158.0	149.0	152.0					1																	110085867		2203	4300	6503	SO:0001583	missense	83873	exon2			CTCCGAAAATTTG	AF317652	CCDS801.1	1p13.3	2012-08-21			ENSG00000156097	ENSG00000156097		"""GPCR / Class A : Orphans"""	13300	protein-coding gene	gene with protein product		606916				11165367, 11690637	Standard	NM_031936		Approved	BALGR	uc001dxy.2	Q9BZJ8	OTTHUMG00000011633	ENST00000527748.1:c.223A>G	1.37:g.110085867A>G	ENSP00000432456:p.Lys75Glu	170	0		219	16	NM_031936	0	0	0	0	0	A8K1W2|Q6NWS0|Q8TDV4|Q96PR4	Missense_Mutation	SNP	ENST00000527748.1	37	CCDS801.1	.	.	.	.	.	.	.	.	.	.	A	18.84	3.708651	0.68615	.	.	ENSG00000156097	ENST00000527748;ENST00000286603	T	0.38077	1.16	5.46	5.46	0.80206	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.48150	0.1484	L	0.59436	1.845	0.48087	D	0.999588	D	0.89917	1.0	D	0.77557	0.99	T	0.52779	-0.8530	10	0.72032	D	0.01	-18.8226	15.2009	0.73136	1.0:0.0:0.0:0.0	.	75	Q9BZJ8	GPR61_HUMAN	E	75;203	ENSP00000432456:K75E	ENSP00000286603:K203E	K	+	1	0	GPR61	109887390	1.000000	0.71417	0.995000	0.50966	0.990000	0.78478	9.332000	0.96446	2.060000	0.61445	0.533000	0.62120	AAA	.		0.607	GPR61-005	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385575.1		
GNAT2	2780	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	110148988	110148988	+	Missense_Mutation	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:110148988T>C	ENST00000351050.3	-	5	718	c.532A>G	c.(532-534)Aga>Gga	p.R178G		NM_005272.3	NP_005263.1	P19087	GNAT2_HUMAN	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2	178					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|detection of light stimulus involved in visual perception (GO:0050908)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to light intensity (GO:0009642)|retinal cone cell development (GO:0046549)|visual perception (GO:0007601)	heterotrimeric G-protein complex (GO:0005834)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	14		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0422)|Colorectal(144;0.108)|Epithelial(280;0.125)|all cancers(265;0.129)|LUSC - Lung squamous cell carcinoma(189;0.227)		GTTTTGACTCTGGATCGGAGC	0.453																																					p.R178G		.											.	GNAT2-227	0			c.A532G						.						158.0	143.0	148.0					1																	110148988		2203	4300	6503	SO:0001583	missense	2780	exon5			TGACTCTGGATCG	BC000233	CCDS803.1	1p13	2013-01-08			ENSG00000134183	ENSG00000134183			4394	protein-coding gene	gene with protein product		139340				8406495	Standard	NM_005272		Approved	ACHM4	uc001dya.3	P19087	OTTHUMG00000011639	ENST00000351050.3:c.532A>G	1.37:g.110148988T>C	ENSP00000251337:p.Arg178Gly	214	1		286	102	NM_005272	0	0	1	1	0		Missense_Mutation	SNP	ENST00000351050.3	37	CCDS803.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.351647	0.82132	.	.	ENSG00000134183	ENST00000351050	T	0.65916	-0.18	5.19	3.99	0.46301	G protein alpha subunit, helical insertion (1);	0.000000	0.85682	D	0.000000	T	0.81673	0.4872	H	0.97540	4.025	0.80722	D	1	D	0.63880	0.993	D	0.65573	0.936	D	0.86588	0.1858	10	0.87932	D	0	.	11.5375	0.50645	0.0:0.0:0.2078:0.7922	.	178	P19087	GNAT2_HUMAN	G	178	ENSP00000251337:R178G	ENSP00000251337:R178G	R	-	1	2	GNAT2	109950511	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.849000	0.55910	2.311000	0.77944	0.533000	0.62120	AGA	.		0.453	GNAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032181.1	NM_005272	
ALX3	257	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	110607490	110607490	+	Frame_Shift_Del	DEL	G	G	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:110607490delG	ENST00000369792.4	-	2	400	c.313delC	c.(313-315)cagfs	p.Q105fs	RP4-773N10.4_ENST00000554749.1_RNA	NM_006492.2	NP_006483.2	O95076	ALX3_HUMAN	ALX homeobox 3	105					embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal system morphogenesis (GO:0048704)|pattern specification process (GO:0007389)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135)		AAGGGCAGCTGGGGGAAGCTG	0.612																																					p.Q105fs		.											.	ALX3-90	0			c.313delC						.						22.0	28.0	26.0					1																	110607490		2188	4293	6481	SO:0001589	frameshift_variant	257	exon2			GCAGCTGGGGGAA	AF008203	CCDS819.1	1p13.3	2014-02-04	2008-11-04		ENSG00000156150	ENSG00000156150		"""Homeoboxes / PRD class"""	449	protein-coding gene	gene with protein product		606014	"""aristaless-like homeobox 3"", ""frontonasal dysplasia"""	FND		15226305, 11807986, 19409524	Standard	NM_006492		Approved		uc001dzb.3	O95076	OTTHUMG00000011650	ENST00000369792.4:c.313delC	1.37:g.110607490delG	ENSP00000358807:p.Gln105fs	45	0		68	26	NM_006492	0	0	0	0	0	O95075|Q5T8M4	Frame_Shift_Del	DEL	ENST00000369792.4	37	CCDS819.1																																																																																			.		0.612	ALX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032232.2	NM_006492	
KCNA2	3737	broad.mit.edu;bcgsc.ca;mdanderson.org	37	1	111144784	111144784	+	3'UTR	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:111144784T>C	ENST00000485317.1	-	0	3294				KCNA2_ENST00000525120.1_5'Flank|KCNA2_ENST00000369770.3_Silent_p.R301R			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2						optic nerve structural organization (GO:0021633)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	juxtaparanode region of axon (GO:0044224)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)	Dalfampridine(DB06637)	TTTGCAGAGGTCTGCGTTCCT	0.483																																					p.R301R	Pancreas(18;568 735 10587 23710 36357)	.											.	KCNA2-91	0			c.A903G						.																																			SO:0001624	3_prime_UTR_variant	3737	exon4			CAGAGGTCTGCGT	L02752	CCDS827.1, CCDS55625.1	1p13	2012-07-05			ENSG00000177301	ENSG00000177301		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6220	protein-coding gene	gene with protein product		176262				16382104	Standard	NM_004974		Approved	Kv1.2, HK4	uc009wfw.3	P16389	OTTHUMG00000011567	ENST00000485317.1:c.*1121A>G	1.37:g.111144784T>C		45	1		74	37	NM_001204269	0	0	0	0	0	Q86XG6	Silent	SNP	ENST00000485317.1	37	CCDS827.1																																																																																			.		0.483	KCNA2-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128001.2	NM_004974	
PIFO	128344	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	111890299	111890299	+	Missense_Mutation	SNP	T	T	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:111890299T>A	ENST00000369738.4	+	3	528	c.163T>A	c.(163-165)Tat>Aat	p.Y55N	PIFO_ENST00000484512.1_3'UTR|PIFO_ENST00000369737.4_Intron	NM_181643.4	NP_857594.2	Q8TCI5	PIFO_HUMAN	primary cilia formation	55					cell projection organization (GO:0030030)|positive regulation of kinase activity (GO:0033674)|regulation of cell projection organization (GO:0031344)	ciliary basal body (GO:0036064)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	beta-tubulin binding (GO:0048487)|gamma-tubulin binding (GO:0043015)|kinesin binding (GO:0019894)|protein kinase binding (GO:0019901)|Rab GTPase binding (GO:0017137)										CCCAAAGGGATATGGCTTGGC	0.363																																					p.Y55N		.											.	.	0			c.T163A						.						86.0	83.0	84.0					1																	111890299		2203	4300	6503	SO:0001583	missense	128344	exon3			AAGGGATATGGCT	BC050319	CCDS833.1, CCDS72836.1	1p13.2	2012-10-10	2012-10-10	2012-10-10	ENSG00000173947	ENSG00000173947			27009	protein-coding gene	gene with protein product		614234	"""chromosome 1 open reading frame 88"""	C1orf88		20643351	Standard	XM_005270472		Approved	FLJ23853, pitchfork	uc001eaw.2	Q8TCI5	OTTHUMG00000011168	ENST00000369738.4:c.163T>A	1.37:g.111890299T>A	ENSP00000358753:p.Tyr55Asn	56	1		68	28	NM_181643	0	0	0	0	0	D9J0A2|D9J0A3|Q4G0K4|Q52LJ6|Q5T5D5|Q5T5D6|Q8N310	Missense_Mutation	SNP	ENST00000369738.4	37	CCDS833.1	.	.	.	.	.	.	.	.	.	.	T	8.432	0.848794	0.17034	.	.	ENSG00000173947	ENST00000369738	T	0.21734	1.99	5.5	-2.78	0.05859	.	1.252710	0.05568	N	0.570527	T	0.04092	0.0114	L	0.36672	1.1	0.09310	N	1	B	0.14438	0.01	B	0.11329	0.006	T	0.40213	-0.9575	10	0.20046	T	0.44	-0.1997	3.4263	0.07412	0.4362:0.2535:0.0:0.3103	.	55	Q8TCI5	PIFO_HUMAN	N	55	ENSP00000358753:Y55N	ENSP00000358753:Y55N	Y	+	1	0	C1orf88	111691822	0.222000	0.23652	0.007000	0.13788	0.030000	0.12068	0.277000	0.18734	-0.113000	0.11958	-0.516000	0.04426	TAT	.		0.363	PIFO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030718.1	NM_181643	
LRIG2	9860	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	113666622	113666622	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:113666622C>T	ENST00000361127.5	+	18	3295	c.3097C>T	c.(3097-3099)Cca>Tca	p.P1033S	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	1033					innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		AGGGAGAGAGCCAGACTGTTC	0.493																																					p.P1033S		.											.	LRIG2-229	0			c.C3097T						.						123.0	105.0	111.0					1																	113666622		2203	4300	6503	SO:0001583	missense	9860	exon18			AGAGAGCCAGACT	AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799		"""Immunoglobulin superfamily / I-set domain containing"""	20889	protein-coding gene	gene with protein product		608869					Standard	XM_005271369		Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.3097C>T	1.37:g.113666622C>T	ENSP00000355396:p.Pro1033Ser	112	0		128	45	NM_014813	0	0	0	1	1	Q9NSN2	Missense_Mutation	SNP	ENST00000361127.5	37	CCDS30808.1	.	.	.	.	.	.	.	.	.	.	C	3.290	-0.145218	0.06627	.	.	ENSG00000198799	ENST00000361127	T	0.60040	0.22	5.58	3.56	0.40772	.	0.462268	0.20244	N	0.096233	T	0.26521	0.0648	L	0.36672	1.1	0.09310	N	1	B	0.20887	0.049	B	0.19666	0.026	T	0.25012	-1.0144	10	0.09843	T	0.71	.	17.3092	0.87204	0.0:0.6523:0.3477:0.0	.	1033	O94898	LRIG2_HUMAN	S	1033	ENSP00000355396:P1033S	ENSP00000355396:P1033S	P	+	1	0	LRIG2	113468145	0.015000	0.18098	0.473000	0.27253	0.023000	0.10783	0.233000	0.17911	1.326000	0.45319	0.650000	0.86243	CCA	.		0.493	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033549.2	NM_014813	
MAGI3	260425	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	114189207	114189207	+	Missense_Mutation	SNP	C	C	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:114189207C>G	ENST00000307546.9	+	12	2173	c.2098C>G	c.(2098-2100)Cca>Gca	p.P700A	MAGI3_ENST00000369615.1_Missense_Mutation_p.P700A|MAGI3_ENST00000369611.4_Missense_Mutation_p.P700A|MAGI3_ENST00000369617.4_Missense_Mutation_p.P725A	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	725					apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTCAGGATCCCCAAAATTGGA	0.388																																					p.P700A		.											.	MAGI3-524	0			c.C2098G						.						104.0	103.0	104.0					1																	114189207		2203	4300	6503	SO:0001583	missense	260425	exon12			GGATCCCCAAAAT	AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.2098C>G	1.37:g.114189207C>G	ENSP00000304604:p.Pro700Ala	169	0		210	93	NM_152900	0	0	0	2	2	Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Missense_Mutation	SNP	ENST00000307546.9	37	CCDS44196.1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.192164	0.58017	.	.	ENSG00000081026	ENST00000369617;ENST00000307546;ENST00000369615;ENST00000369611	T;T;T;T	0.38401	1.14;1.14;1.14;1.14	5.39	5.39	0.77823	.	0.055360	0.64402	D	0.000001	T	0.50463	0.1617	L	0.61218	1.895	0.80722	D	1	D;D;B	0.71674	0.998;0.989;0.178	D;P;B	0.65987	0.94;0.879;0.155	T	0.50074	-0.8870	10	0.54805	T	0.06	-31.623	19.1481	0.93476	0.0:1.0:0.0:0.0	.	700;700;725	Q5TCQ9-4;Q5TCQ9-3;Q5TCQ9-2	.;.;.	A	725;700;700;700	ENSP00000358630:P725A;ENSP00000304604:P700A;ENSP00000358628:P700A;ENSP00000358624:P700A	ENSP00000304604:P700A	P	+	1	0	MAGI3	113990730	1.000000	0.71417	0.997000	0.53966	0.973000	0.67179	5.329000	0.65892	2.521000	0.84997	0.563000	0.77884	CCA	.		0.388	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1	NM_152900	
HIPK1	204851	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	114506014	114506014	+	Silent	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:114506014C>T	ENST00000369558.1	+	10	2341	c.2109C>T	c.(2107-2109)agC>agT	p.S703S	HIPK1_ENST00000340480.4_Silent_p.S329S|HIPK1_ENST00000406344.1_Silent_p.S309S|HIPK1_ENST00000426820.2_Silent_p.S703S|HIPK1_ENST00000369561.4_Silent_p.S669S|HIPK1_ENST00000369555.2_Intron|HIPK1_ENST00000369554.2_Intron|HIPK1_ENST00000369553.1_Silent_p.S309S|HIPK1_ENST00000369559.4_Silent_p.S703S			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	703					anterior/posterior pattern specification (GO:0009952)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|neuron differentiation (GO:0030182)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|retina layer formation (GO:0010842)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTCAGGGAAGCTGTACACCAC	0.532																																					p.S703S		.											.	HIPK1-361	0			c.C2109T						.						80.0	75.0	77.0					1																	114506014		2203	4300	6503	SO:0001819	synonymous_variant	204851	exon10			GGGAAGCTGTACA	AB089957	CCDS867.1, CCDS868.1, CCDS869.1, CCDS41370.1	1p13.1	2008-02-05			ENSG00000163349	ENSG00000163349			19006	protein-coding gene	gene with protein product		608003					Standard	NM_198268		Approved	KIAA0630, Myak, MGC26642, Nbak2, MGC33446, MGC33548	uc001eem.3	Q86Z02	OTTHUMG00000011983	ENST00000369558.1:c.2109C>T	1.37:g.114506014C>T		191	0		176	70	NM_152696	0	0	0	0	0	A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	Silent	SNP	ENST00000369558.1	37	CCDS867.1																																																																																			.		0.532	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000033127.1	NM_198268	
WARS2	10352	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	1	119683258	119683258	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:119683258G>A	ENST00000235521.4	-	1	36	c.10C>T	c.(10-12)Cac>Tac	p.H4Y	WARS2_ENST00000537870.1_5'Flank|RP11-418J17.1_ENST00000457043.1_RNA|WARS2_ENST00000369426.5_Missense_Mutation_p.H4Y|RP11-418J17.1_ENST00000425884.1_RNA|WARS2_ENST00000497761.1_5'UTR|RP11-418J17.1_ENST00000418015.1_RNA|RP11-418J17.1_ENST00000440150.1_RNA|RP11-418J17.1_ENST00000413531.1_RNA	NM_015836.3|NM_201263.2	NP_056651.1|NP_957715.1	Q9UGM6	SYWM_HUMAN	tryptophanyl tRNA synthetase 2, mitochondrial	4					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|tryptophanyl-tRNA aminoacylation (GO:0006436)|vasculogenesis (GO:0001570)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|tryptophan-tRNA ligase activity (GO:0004830)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	CGCATTGAGTGCAGCGCCATC	0.602																																					p.H4Y		.											.	WARS2-90	0			c.C10T						.						36.0	37.0	36.0					1																	119683258		2203	4300	6503	SO:0001583	missense	10352	exon1			TTGAGTGCAGCGC	BC021722	CCDS900.1, CCDS30817.1	1p12	2011-07-01	2007-02-23		ENSG00000116874	ENSG00000116874	6.1.1.2	"""Aminoacyl tRNA synthetases / Class I"""	12730	protein-coding gene	gene with protein product	"""tryptophan tRNA ligase 2, mitochondrial"""	604733				10072595, 10828066	Standard	NM_201263		Approved	TrpRS	uc001ehn.3	Q9UGM6	OTTHUMG00000012335	ENST00000235521.4:c.10C>T	1.37:g.119683258G>A	ENSP00000235521:p.His4Tyr	32	0		53	22	NM_015836	0	0	3	6	3	B1ALR1|B2R9D4|Q53FT4|Q5VUD2|Q86TQ0	Missense_Mutation	SNP	ENST00000235521.4	37	CCDS900.1	.	.	.	.	.	.	.	.	.	.	G	16.93	3.258044	0.59321	.	.	ENSG00000116874	ENST00000369426;ENST00000235521	T;T	0.41400	1.0;2.0	6.04	4.16	0.48862	.	0.689474	0.14950	N	0.288998	T	0.13030	0.0316	L	0.43152	1.355	0.80722	D	1	B;B;B;B	0.06786	0.001;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.001;0.001;0.001	T	0.09465	-1.0673	10	0.06891	T	0.86	-0.127	8.6464	0.34007	0.1762:0.0:0.8238:0.0	.	4;4;4;4	B7Z448;B7Z6G7;Q9UGM6;B1ALR1	.;.;SYWM_HUMAN;.	Y	4	ENSP00000358434:H4Y;ENSP00000235521:H4Y	ENSP00000235521:H4Y	H	-	1	0	WARS2	119484781	0.937000	0.31787	0.736000	0.30914	0.935000	0.57460	1.422000	0.34826	0.869000	0.35703	0.561000	0.74099	CAC	.		0.602	WARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034362.1	NM_015836	
NOTCH2	4853	hgsc.bcm.edu	37	1	120611964	120611964	+	Missense_Mutation	SNP	G	G	C	rs11810554	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:120611964G>C	ENST00000256646.2	-	1	276	c.57C>G	c.(55-57)tgC>tgG	p.C19W		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	19					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)	p.C19W(1)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CGGGGGCCGCGCAGCACAGCC	0.766			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																												p.C19W		.		Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	.	NOTCH2-1441	1	Substitution - Missense(1)	central_nervous_system(1)	c.C57G						.						6.0	8.0	8.0					1																	120611964		1705	3721	5426	SO:0001583	missense	4853	exon1	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	GGCCGCGCAGCAC	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.57C>G	1.37:g.120611964G>C	ENSP00000256646:p.Cys19Trp	0	0		12	5	NM_024408	0	0	1	1	0	Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	ENST00000256646.2	37	CCDS908.1	697|697	0.3191391941391941|0.3191391941391941	81|81	0.16463414634146342|0.16463414634146342	112|112	0.30939226519337015|0.30939226519337015	224|224	0.3916083916083916|0.3916083916083916	280|280	0.36939313984168864|0.36939313984168864	G|G	6.292|6.292	0.421956|0.421956	0.11928|0.11928	.|.	.|.	ENSG00000134250|ENSG00000134250	ENST00000538680|ENST00000256646	.|T	.|0.57436	.|0.4	3.09|3.09	2.04|2.04	0.26737|0.26737	.|.	.|.	.|.	.|.	.|.	T|T	0.14917|0.14917	0.0360|0.0360	N|N	0.14661|0.14661	0.345|0.345	0.26751|0.26751	N|N	0.970205|0.970205	.|B;B	.|0.09022	.|0.001;0.002	.|B;B	.|0.01281	.|0.0;0.0	T|T	0.14337|0.14337	-1.0476|-1.0476	6|9	0.87932|0.37606	D|T	0|0.19	.|.	6.7594|6.7594	0.23532|0.23532	0.0:0.0:0.7206:0.2794|0.0:0.0:0.7206:0.2794	rs11810554|rs11810554	.|19;19	.|Q6IQ50;Q04721	.|.;NOTC2_HUMAN	G|W	36|19	.|ENSP00000256646:C19W	ENSP00000439516:A36G|ENSP00000256646:C19W	A|C	-|-	2|3	0|2	NOTCH2|NOTCH2	120413487|120413487	0.998000|0.998000	0.40836|0.40836	0.998000|0.998000	0.56505|0.56505	0.313000|0.313000	0.28021|0.28021	0.766000|0.766000	0.26560|0.26560	1.760000|1.760000	0.52011|0.52011	0.184000|0.184000	0.17185|0.17185	GCG|TGC	G|0.680;C|0.320		0.766	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408	
PDE4DIP	9659	broad.mit.edu;bcgsc.ca;mdanderson.org	37	1	144854181	144854181	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:144854181G>A	ENST00000369354.3	-	43	7172	c.6983C>T	c.(6982-6984)gCa>gTa	p.A2328V	PDE4DIP_ENST00000530740.1_Missense_Mutation_p.A2413V|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.A2328V|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.A2222V|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.A2464V			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2328					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)		GTTAGTCCTTGCCTTCTTTAA	0.463			T	PDGFRB	MPD																																p.A2328V		.		Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	.	PDE4DIP-663	0			c.C6983T						.						238.0	188.0	205.0					1																	144854181		2203	4298	6501	SO:0001583	missense	9659	exon43			GTCCTTGCCTTCT	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.6983C>T	1.37:g.144854181G>A	ENSP00000358360:p.Ala2328Val	662	1		825	88	NM_014644	0	0	5	5	0	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	.	.	.	.	.	.	.	.	.	.	.	21.1	4.094288	0.76870	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T;T	0.06528	3.42;3.29;3.5;3.56;3.45	4.09	4.09	0.47781	.	.	.	.	.	T	0.17066	0.0410	M	0.83223	2.63	0.80722	D	1	D;D	0.67145	0.987;0.996	P;D	0.65140	0.791;0.932	T	0.01516	-1.1335	9	0.87932	D	0	.	14.3364	0.66592	0.0:0.0:1.0:0.0	.	2222;2328	Q5VU43-3;Q5VU43	.;MYOME_HUMAN	V	2222;2328;2328;2413;2464	ENSP00000327209:A2222V;ENSP00000358360:A2328V;ENSP00000358363:A2328V;ENSP00000435654:A2413V;ENSP00000358366:A2464V	ENSP00000327209:A2222V	A	-	2	0	PDE4DIP	143565538	1.000000	0.71417	1.000000	0.80357	0.711000	0.40976	6.924000	0.75823	2.044000	0.60594	0.442000	0.29010	GCA	.		0.463	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359	
PDE4DIP	9659	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	144871772	144871772	+	Silent	SNP	G	G	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:144871772G>T	ENST00000369354.3	-	32	5379	c.5190C>A	c.(5188-5190)ggC>ggA	p.G1730G	PDE4DIP_ENST00000530740.1_Silent_p.G1815G|PDE4DIP_ENST00000369356.4_Silent_p.G1730G|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369359.4_Silent_p.G1866G			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1730					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)		TCTCACAGCAGCCAAGGAGGA	0.572			T	PDGFRB	MPD																																p.G1730G		.		Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	.	PDE4DIP-663	0			c.C5190A						.						115.0	116.0	116.0					1																	144871772		2203	4296	6499	SO:0001819	synonymous_variant	9659	exon32			ACAGCAGCCAAGG	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.5190C>A	1.37:g.144871772G>T		148	0		151	38	NM_014644	0	0	0	0	0	A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Silent	SNP	ENST00000369354.3	37	CCDS30824.1																																																																																			.		0.572	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359	
SEC22B	9554	broad.mit.edu;bcgsc.ca	37	1	145115843	145115843	+	RNA	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:145115843T>C	ENST00000453618.1	+	0	929							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											GCAGTAGCTGTATTTTTCATC	0.413																																					.		.											.	.	0			.						.						229.0	227.0	228.0					1																	145115843		2016	4189	6205			9554	.			TAGCTGTATTTTT	AF047442		1q21.1	2012-04-20	2010-03-12	2006-04-25	ENSG00000223380				10700	protein-coding gene	gene with protein product		604029	"""SEC22, vesicle trafficking protein (S. cerevisiae)-like 1"", ""SEC22 vesicle trafficking protein-like 1 (S. cerevisiae)"", ""SEC22 vesicle trafficking protein homolog B (S. cerevisiae)"""	SEC22L1		9094723, 16354670	Standard	NM_004892		Approved	sec22b, ERS-24	uc031poa.1	O75396	OTTHUMG00000013745		1.37:g.145115843T>C		207	0		282	21	.	0	0	159	159	0	A8K1G0	RNA	SNP	ENST00000453618.1	37																																																																																				.		0.413	SEC22B-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000038523.5	NM_004892	
PIAS3	10401	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	145579296	145579296	+	Silent	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:145579296C>T	ENST00000393045.2	+	5	723	c.633C>T	c.(631-633)ctC>ctT	p.L211L	PIAS3_ENST00000369298.1_Silent_p.L176L|PIAS3_ENST00000369299.3_Silent_p.L202L	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	211	PINIT. {ECO:0000255|PROSITE- ProRule:PRU00799}.				positive regulation of gene expression (GO:0010628)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nucleus (GO:0005634)|synapse (GO:0045202)	enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|SUMO ligase activity (GO:0019789)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CCCCCAACCTCTTTGTCAAGG	0.453																																					p.L211L		.											.	PIAS3-658	0			c.C633T						.						119.0	115.0	117.0					1																	145579296		2203	4300	6503	SO:0001819	synonymous_variant	10401	exon5			CAACCTCTTTGTC	AB021868	CCDS72866.1	1q21	2011-10-11			ENSG00000131788	ENSG00000131788		"""Zinc fingers, MIZ-type"""	16861	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 5"""	605987				10319586	Standard	NM_006099		Approved	FLJ14651, ZMIZ5	uc001eoc.1	Q9Y6X2	OTTHUMG00000013750	ENST00000393045.2:c.633C>T	1.37:g.145579296C>T		56	0		52	27	NM_006099	0	0	12	18	6	Q9UFI3	Silent	SNP	ENST00000393045.2	37	CCDS920.2																																																																																			.		0.453	PIAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038533.4	NM_006099	
ANP32E	81611	bcgsc.ca	37	1	150195565	150195565	+	Splice_Site	SNP	T	T	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:150195565T>A	ENST00000314136.8	-	6	1052	c.683A>T	c.(682-684)gAt>gTt	p.D228V	ANP32E_ENST00000369116.4_Splice_Site_p.D96V|ANP32E_ENST00000369119.3_Splice_Site_p.D180V|ANP32E_ENST00000436748.2_Splice_Site_p.D187V|ANP32E_ENST00000369114.5_Splice_Site_p.D110V|ANP32E_ENST00000369115.2_Splice_Site_p.D96V|ANP32E_ENST00000533654.1_Intron	NM_001136478.2|NM_001280559.1|NM_030920.3	NP_001129950.1|NP_001267488.1|NP_112182.1	Q9BTT0	AN32E_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member E	228	Asp/Glu-rich (highly acidic).|ZID domain.				histone exchange (GO:0043486)|negative regulation of catalytic activity (GO:0043086)	cytoplasmic membrane-bounded vesicle (GO:0016023)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	histone binding (GO:0042393)|phosphatase inhibitor activity (GO:0019212)			breast(3)|endometrium(3)|lung(7)|skin(1)|urinary_tract(1)	15	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			atcttcttcatcctTGAAATT	0.303																																					p.D228V		.											.	ANP32E-90	0			c.A683T						.						36.0	33.0	34.0					1																	150195565		2060	3975	6035	SO:0001630	splice_region_variant	81611	exon6			TCTTCATCCTTGA	AK092672	CCDS946.1, CCDS44214.1, CCDS44215.1, CCDS60245.1	1q22	2008-02-05			ENSG00000143401	ENSG00000143401		"""ANP32 acidic nuclear phosphoproteins"""	16673	protein-coding gene	gene with protein product		609611				12438741	Standard	NM_030920		Approved	LANPL, MGC5350, LANP-L	uc001etw.3	Q9BTT0	OTTHUMG00000012547	ENST00000314136.8:c.682-1A>T	1.37:g.150195565T>A		154	4		136	52	NM_030920	0	0	0	0	0	B4E0I6|E9PEA6|Q5TB18|Q5TB20|Q8N1S4|Q8WWW9	Missense_Mutation	SNP	ENST00000314136.8	37	CCDS946.1	.	.	.	.	.	.	.	.	.	.	T	13.95	2.391279	0.42410	.	.	ENSG00000143401	ENST00000314136;ENST00000369119;ENST00000369116;ENST00000436748;ENST00000534437;ENST00000369114;ENST00000369115	T;T;T;T	0.25414	8.27;8.27;8.27;1.8	3.97	3.97	0.46021	.	0.285316	0.37304	N	0.002159	T	0.22513	0.0543	N	0.24115	0.695	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.998	D;D;D	0.80764	0.994;0.987;0.987	T	0.04946	-1.0916	10	0.72032	D	0.01	.	9.4201	0.38546	0.0:0.0:0.0:1.0	.	187;228;180	E9PEA6;Q9BTT0;Q5TB20	.;AN32E_HUMAN;.	V	228;180;96;187;60;110;96	ENSP00000324074:D228V;ENSP00000358115:D180V;ENSP00000393718:D187V;ENSP00000358110:D110V	ENSP00000324074:D228V	D	-	2	0	ANP32E	148462189	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.569000	0.36428	1.788000	0.52465	0.377000	0.23210	GAT	.		0.303	ANP32E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035056.1	NM_030920	Missense_Mutation
PRPF3	9129	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	150298336	150298336	+	Silent	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:150298336A>G	ENST00000324862.6	+	3	438	c.273A>G	c.(271-273)ctA>ctG	p.L91L	PRPF3_ENST00000543398.1_5'UTR|PRPF3_ENST00000414970.2_Silent_p.L91L	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	91					mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U4/U6 x U5 tri-snRNP complex (GO:0046540)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		AACGAGAGCTAAAGGTAGGTT	0.448																																					p.L91L	Ovarian(168;1070 2670 5178 20729)	.											.	PRPF3-91	0			c.A273G						.						122.0	116.0	118.0					1																	150298336		2203	4300	6503	SO:0001819	synonymous_variant	9129	exon3			AGAGCTAAAGGTA	AF001947	CCDS951.1	1q21.1	2013-07-16	2013-06-10		ENSG00000117360	ENSG00000117360			17348	protein-coding gene	gene with protein product		607301	"""retinitis pigmentosa 18 (autosomal dominant)"", ""PRP3 pre-mRNA processing factor 3 homolog (yeast)"", ""PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae)"""	RP18			Standard	NM_004698		Approved	Prp3, hPrp3, SNRNP90	uc001eum.4	O43395	OTTHUMG00000012807	ENST00000324862.6:c.273A>G	1.37:g.150298336A>G		190	0		176	63	NM_004698	0	0	0	0	0	B4DSY9|O43446|Q5VT54	Silent	SNP	ENST00000324862.6	37	CCDS951.1																																																																																			.		0.448	PRPF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035836.1	NM_004698	
GOLPH3L	55204	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	150636172	150636172	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:150636172G>A	ENST00000271732.3	-	3	295	c.251C>T	c.(250-252)gCc>gTc	p.A84V	GOLPH3L_ENST00000540514.1_Intron	NM_018178.5	NP_060648.2	Q9H4A5	GLP3L_HUMAN	golgi phosphoprotein 3-like	84					Golgi organization (GO:0007030)|positive regulation of protein secretion (GO:0050714)	Golgi membrane (GO:0000139)|trans-Golgi network membrane (GO:0032588)	phosphatidylinositol-4-phosphate binding (GO:0070273)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8	all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;1.2e-23)|all cancers(9;4.81e-23)|OV - Ovarian serous cystadenocarcinoma(6;1.93e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			ACCCCGCATGGCCAGCTCTAT	0.498																																					p.A84V		.											.	GOLPH3L-91	0			c.C251T						.						91.0	87.0	88.0					1																	150636172		2203	4300	6503	SO:0001583	missense	55204	exon3			CGCATGGCCAGCT	AJ296153	CCDS966.1	1q21	2008-02-05			ENSG00000143457	ENSG00000143457			24882	protein-coding gene	gene with protein product		612208					Standard	NM_018178		Approved	GPP34R	uc001evj.2	Q9H4A5	OTTHUMG00000035009	ENST00000271732.3:c.251C>T	1.37:g.150636172G>A	ENSP00000271732:p.Ala84Val	112	0		130	56	NM_018178	0	0	9	19	10	B1AN09|B7Z6N3|Q9NVK0	Missense_Mutation	SNP	ENST00000271732.3	37	CCDS966.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.664717	0.47572	.	.	ENSG00000143457	ENST00000271732;ENST00000369003;ENST00000427665	.	.	.	5.61	5.61	0.85477	.	0.386685	0.23386	N	0.048744	T	0.46521	0.1397	M	0.75150	2.29	0.80722	D	1	D	0.63046	0.992	B	0.41174	0.349	T	0.58702	-0.7590	9	0.59425	D	0.04	-8.4399	11.6483	0.51273	0.0817:0.0:0.9183:0.0	.	84	Q9H4A5	GLP3L_HUMAN	V	84;106;106	.	ENSP00000271732:A84V	A	-	2	0	GOLPH3L	148902796	1.000000	0.71417	1.000000	0.80357	0.006000	0.05464	7.479000	0.81095	2.645000	0.89757	0.585000	0.79938	GCC	.		0.498	GOLPH3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084734.1	NM_018178	
GABPB2	126626	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	151065754	151065754	+	Missense_Mutation	SNP	G	G	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:151065754G>T	ENST00000368918.3	+	4	694	c.363G>T	c.(361-363)gaG>gaT	p.E121D	GABPB2_ENST00000368917.1_Missense_Mutation_p.E121D|GABPB2_ENST00000467551.1_3'UTR|GABPB2_ENST00000368916.1_Missense_Mutation_p.E121D	NM_144618.2	NP_653219.1	Q8TAK5	GABP2_HUMAN	GA binding protein transcription factor, beta subunit 2	121					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(2)|large_intestine(3)|liver(2)|lung(7)	15				all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662)		ATGTCGTAGAGTTACTTATCA	0.433																																					p.E121D		.											.	GABPB2-90	0			c.G363T						.						154.0	145.0	148.0					1																	151065754		2203	4300	6503	SO:0001583	missense	126626	exon4			CGTAGAGTTACTT		CCDS983.1	1q21.2	2013-01-10			ENSG00000143458	ENSG00000143458		"""Ankyrin repeat domain containing"""	28441	protein-coding gene	gene with protein product						7958862	Standard	NM_144618		Approved	MGC29891	uc001ewr.2	Q8TAK5	OTTHUMG00000012193	ENST00000368918.3:c.363G>T	1.37:g.151065754G>T	ENSP00000357914:p.Glu121Asp	105	0		123	52	NM_144618	0	0	8	15	7	B1AVJ8|D3DV14|Q8NAR5	Missense_Mutation	SNP	ENST00000368918.3	37	CCDS983.1	.	.	.	.	.	.	.	.	.	.	G	17.77	3.470454	0.63625	.	.	ENSG00000143458	ENST00000368918;ENST00000368917;ENST00000446567;ENST00000368916	T;T;T	0.66638	-0.22;-0.22;-0.22	5.17	3.28	0.37604	Ankyrin repeat-containing domain (4);	0.093907	0.64402	D	0.000001	T	0.60405	0.2266	N	0.26162	0.8	0.46167	D	0.998901	D;D;B;D	0.61080	0.972;0.972;0.068;0.989	D;D;B;P	0.70716	0.97;0.96;0.093;0.733	T	0.66866	-0.5815	10	0.72032	D	0.01	-4.7317	10.8538	0.46786	0.1574:0.0:0.8426:0.0	.	137;121;121;121	B4DXA3;Q5SZG2;B2R924;Q8TAK5	.;.;.;GABP2_HUMAN	D	121;121;137;121	ENSP00000357914:E121D;ENSP00000357913:E121D;ENSP00000357912:E121D	ENSP00000357912:E121D	E	+	3	2	GABPB2	149332378	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.068000	0.41471	1.427000	0.47276	0.561000	0.74099	GAG	.		0.433	GABPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033700.2	NM_144618	
RORC	6097	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	151787534	151787534	+	Missense_Mutation	SNP	G	G	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:151787534G>C	ENST00000318247.6	-	5	773	c.666C>G	c.(664-666)agC>agG	p.S222R	RORC_ENST00000392697.3_Missense_Mutation_p.S276R|RORC_ENST00000480719.1_5'Flank|RORC_ENST00000356728.6_Missense_Mutation_p.S201R	NM_005060.3	NP_005051.2	P51449	RORG_HUMAN	RAR-related orphan receptor C	222	Hinge. {ECO:0000255}.				adipose tissue development (GO:0060612)|cellular response to sterol (GO:0036315)|circadian regulation of gene expression (GO:0032922)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|lymph node development (GO:0048535)|negative regulation of thymocyte apoptotic process (GO:0070244)|Peyer's patch development (GO:0048541)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of fat cell differentiation (GO:0045598)|regulation of gamma-delta T cell differentiation (GO:0045586)|regulation of glucose metabolic process (GO:0010906)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription involved in cell fate commitment (GO:0060850)|T cell differentiation in thymus (GO:0033077)|T-helper 17 cell differentiation (GO:0072539)|T-helper cell differentiation (GO:0042093)|transcription initiation from RNA polymerase II promoter (GO:0006367)|xenobiotic metabolic process (GO:0006805)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	direct ligand regulated sequence-specific DNA binding transcription factor activity (GO:0098531)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|oxysterol binding (GO:0008142)|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)	p.S222S(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GGGTCAGCTGGCTGCCTGTGC	0.607																																					p.S222R		.											.	RORC-227	1	Substitution - coding silent(1)	endometrium(1)	c.C666G						.						68.0	61.0	63.0					1																	151787534		2203	4300	6503	SO:0001583	missense	6097	exon5			CAGCTGGCTGCCT	U16997	CCDS1004.1, CCDS30856.1	1q21	2013-01-16			ENSG00000143365	ENSG00000143365		"""Nuclear hormone receptors"""	10260	protein-coding gene	gene with protein product		602943				7811290	Standard	NM_005060		Approved	RZRG, RORG, NR1F3, TOR	uc001ezh.3	P51449	OTTHUMG00000013053	ENST00000318247.6:c.666C>G	1.37:g.151787534G>C	ENSP00000327025:p.Ser222Arg	240	0		306	146	NM_005060	0	0	0	0	0	Q5SZR9|Q8N5V7|Q8NCY8	Missense_Mutation	SNP	ENST00000318247.6	37	CCDS1004.1	.	.	.	.	.	.	.	.	.	.	G	11.23	1.578906	0.28180	.	.	ENSG00000143365	ENST00000356728;ENST00000392697;ENST00000318247	D;D;D	0.94687	-3.45;-3.49;-3.47	5.43	5.43	0.79202	.	0.648626	0.14296	U	0.328638	D	0.89993	0.6876	L	0.56769	1.78	0.51482	D	0.999922	B;B;B;B	0.11235	0.0;0.004;0.0;0.0	B;B;B;B	0.15484	0.002;0.013;0.001;0.001	D	0.84699	0.0727	10	0.25106	T	0.35	.	16.7436	0.85466	0.0:0.0:1.0:0.0	.	222;276;222;201	B6ZGS6;B4DPR1;P51449;F1D8P6	.;.;RORG_HUMAN;.	R	201;276;222	ENSP00000349164:S201R;ENSP00000376461:S276R;ENSP00000327025:S222R	ENSP00000327025:S222R	S	-	3	2	RORC	150054158	0.999000	0.42202	1.000000	0.80357	0.907000	0.53573	2.784000	0.47774	2.532000	0.85374	0.563000	0.77884	AGC	.		0.607	RORC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036626.1		
RORC	6097	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	151789189	151789189	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:151789189G>A	ENST00000318247.6	-	4	356	c.249C>T	c.(247-249)tgC>tgT	p.C83C	RORC_ENST00000392697.3_Silent_p.C137C|RORC_ENST00000480719.1_5'Flank|RORC_ENST00000356728.6_Silent_p.C62C	NM_005060.3	NP_005051.2	P51449	RORG_HUMAN	RAR-related orphan receptor C	83					adipose tissue development (GO:0060612)|cellular response to sterol (GO:0036315)|circadian regulation of gene expression (GO:0032922)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|lymph node development (GO:0048535)|negative regulation of thymocyte apoptotic process (GO:0070244)|Peyer's patch development (GO:0048541)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of fat cell differentiation (GO:0045598)|regulation of gamma-delta T cell differentiation (GO:0045586)|regulation of glucose metabolic process (GO:0010906)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription involved in cell fate commitment (GO:0060850)|T cell differentiation in thymus (GO:0033077)|T-helper 17 cell differentiation (GO:0072539)|T-helper cell differentiation (GO:0042093)|transcription initiation from RNA polymerase II promoter (GO:0006367)|xenobiotic metabolic process (GO:0006805)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	direct ligand regulated sequence-specific DNA binding transcription factor activity (GO:0098531)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|oxysterol binding (GO:0008142)|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)			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GGCAGTGCTGGCATCGGTTTC	0.657																																					p.C83C		.											.	RORC-227	0			c.C249T						.						32.0	28.0	29.0					1																	151789189		2202	4300	6502	SO:0001819	synonymous_variant	6097	exon4			GTGCTGGCATCGG	U16997	CCDS1004.1, CCDS30856.1	1q21	2013-01-16			ENSG00000143365	ENSG00000143365		"""Nuclear hormone receptors"""	10260	protein-coding gene	gene with protein product		602943				7811290	Standard	NM_005060		Approved	RZRG, RORG, NR1F3, TOR	uc001ezh.3	P51449	OTTHUMG00000013053	ENST00000318247.6:c.249C>T	1.37:g.151789189G>A		117	0		188	95	NM_005060	0	0	0	0	0	Q5SZR9|Q8N5V7|Q8NCY8	Silent	SNP	ENST00000318247.6	37	CCDS1004.1																																																																																			.		0.657	RORC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036626.1		
C2CD4D	100191040	bcgsc.ca	37	1	151811467	151811467	+	5'UTR	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:151811467C>T	ENST00000454109.1	-	0	584				Y_RNA_ENST00000364264.1_RNA|AL450992.2_ENST00000434182.1_RNA	NM_001136003.1	NP_001129475.1	B7Z1M9	C2D4D_HUMAN	C2 calcium-dependent domain containing 4D											skin(1)	1						GAGCCACATGCGGTGGGTGGG	0.677																																					.		.											.	.	0			.						.						5.0	6.0	6.0					1																	151811467		677	1566	2243	SO:0001623	5_prime_UTR_variant	100191040	.			CACATGCGGTGGG	BC171843	CCDS44224.1	1q21.3	2012-07-02			ENSG00000225556	ENSG00000225556			37210	protein-coding gene	gene with protein product	"""family with sequence similarity 148, member D"""						Standard	NM_001136003		Approved	FAM148D	uc010pdq.1	B7Z1M9	OTTHUMG00000167218	ENST00000454109.1:c.-2G>A	1.37:g.151811467C>T		65	1		85	36	.	0	0	0	0	0	B2RXG8	RNA	SNP	ENST00000454109.1	37	CCDS44224.1																																																																																			.		0.677	C2CD4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393778.1	NM_001136003	
THEM4	117145	hgsc.bcm.edu	37	1	151881885	151881885	+	Missense_Mutation	SNP	A	A	C	rs3748805	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:151881885A>C	ENST00000368814.3	-	1	399	c.50T>G	c.(49-51)cTg>cGg	p.L17R	THEM4_ENST00000489410.1_Missense_Mutation_p.L17R	NM_053055.4	NP_444283.2	Q5T1C6	THEM4_HUMAN	thioesterase superfamily member 4	17			L -> R (in dbSNP:rs3748805). {ECO:0000269|PubMed:11598301, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17013611, ECO:0000269|Ref.4}.		epidermal growth factor receptor signaling pathway (GO:0007173)|fatty acid metabolic process (GO:0006631)|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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|protein kinase B signaling (GO:0043491)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)	cell projection (GO:0042995)|cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	palmitoyl-CoA hydrolase activity (GO:0016290)			endometrium(1)|large_intestine(4)|lung(3)|urinary_tract(1)	9	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TACTGGCGGCAGGCACAGAGC	0.741													C|||	4622	0.922923	0.8986	0.9092	5008	,	,		8223	0.9494		0.9155	False		,,,				2504	0.9458				p.L17R		.											.	THEM4-522	0			c.T50G						.						1.0	1.0	1.0					1																	151881885		1068	2473	3541	SO:0001583	missense	117145	exon1			GGCGGCAGGCACA	AJ313515	CCDS1006.1	1q21.3	2008-02-05			ENSG00000159445	ENSG00000159445			17947	protein-coding gene	gene with protein product	"""C-terminal modulator protein"""	606388				11598301	Standard	NM_053055		Approved	CTMP	uc001ezj.2	Q5T1C6	OTTHUMG00000013049	ENST00000368814.3:c.50T>G	1.37:g.151881885A>C	ENSP00000357804:p.Leu17Arg	0	0		8	8	NM_053055	0	0	0	8	8	B2RBX2|Q96KR2	Missense_Mutation	SNP	ENST00000368814.3	37	CCDS1006.1	2023	0.9262820512820513	453	0.9207317073170732	320	0.8839779005524862	545	0.9527972027972028	705	0.9300791556728232	C	0.562	-0.845033	0.02671	.	.	ENSG00000159445	ENST00000368814;ENST00000489410	T;T	0.25579	2.45;1.79	1.92	-0.278	0.12894	.	16.336300	0.02935	N	0.139768	T	0.02455	0.0075	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.21143	-1.0254	9	0.10111	T	0.7	0.3431	0.4569	0.00510	0.2457:0.3181:0.2427:0.1934	rs3748805;rs17855960	17	Q5T1C6	THEM4_HUMAN	R	17	ENSP00000357804:L17R;ENSP00000433304:L17R	ENSP00000357804:L17R	L	-	2	0	THEM4	150148509	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.350000	0.07721	-0.432000	0.07297	-0.358000	0.07595	CTG	T|0.073;G|0.921		0.741	THEM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036615.1	NM_053055	
IVL	3713	broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	152883314	152883314	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:152883314G>A	ENST00000368764.3	+	2	1105	c.1041G>A	c.(1039-1041)gaG>gaA	p.E347E	IVL_ENST00000392667.2_Silent_p.E201E			P07476	INVO_HUMAN	involucrin	347	39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|response to UV-B (GO:0010224)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			agcacctggagcagcaggagg	0.657																																					p.E347E		.											.	IVL-93	0			c.G1041A						.						15.0	14.0	14.0					1																	152883314		2132	4164	6296	SO:0001819	synonymous_variant	3713	exon2			CCTGGAGCAGCAG	BC046391	CCDS1030.1	1q21	2008-02-05			ENSG00000163207	ENSG00000163207			6187	protein-coding gene	gene with protein product		147360				2873896	Standard	NM_005547		Approved		uc001fau.3	P07476	OTTHUMG00000012451	ENST00000368764.3:c.1041G>A	1.37:g.152883314G>A		208	1		248	103	NM_005547	0	0	0	0	0	Q5T7P4	Silent	SNP	ENST00000368764.3	37	CCDS1030.1																																																																																			.		0.657	IVL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034664.1	NM_005547	
LOR	4014	hgsc.bcm.edu	37	1	153233701	153233701	+	Silent	SNP	A	A	C	rs1143390	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:153233701A>C	ENST00000368742.3	+	2	333	c.276A>C	c.(274-276)ggA>ggC	p.G92G		NM_000427.2	NP_000418.2	P23490	LORI_HUMAN	loricrin	92					keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein binding, bridging (GO:0030674)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			lung(2)	2	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGTACTCcggaggcggcggct	0.786													a|||	1994	0.398163	0.416	0.3703	5008	,	,		4732	0.3562		0.3797	False		,,,				2504	0.456				p.G92G		.											.	LOR-90	0			c.A276C						.						1.0	1.0	1.0					1																	153233701		392	1110	1502	SO:0001819	synonymous_variant	4014	exon2			CTCCGGAGGCGGC	M61120	CCDS30870.1	1q21	2008-02-05			ENSG00000203782	ENSG00000203782			6663	protein-coding gene	gene with protein product		152445				2007607, 1355480	Standard	NM_000427		Approved		uc001fbm.3	P23490	OTTHUMG00000013938	ENST00000368742.3:c.276A>C	1.37:g.153233701A>C		2	0		6	4	NM_000427	0	0	0	0	0	Q5T869|Q5XKF8	Silent	SNP	ENST00000368742.3	37	CCDS30870.1																																																																																			A|0.594;C|0.406		0.786	LOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039107.1	NM_000427	
UBAP2L	9898	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	154224048	154224048	+	Missense_Mutation	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:154224048T>C	ENST00000361546.2	+	13	1625	c.1583T>C	c.(1582-1584)gTc>gCc	p.V528A	UBAP2L_ENST00000271877.7_Missense_Mutation_p.V539A|UBAP2L_ENST00000428931.1_Missense_Mutation_p.V528A|UBAP2L_ENST00000343815.6_Missense_Mutation_p.V528A|AL590431.1_ENST00000517008.1_RNA			Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	528					binding of sperm to zona pellucida (GO:0007339)		poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TCAGAGCCTGTCCTTTCTGAT	0.527																																					p.V528A		.											.	UBAP2L-91	0			c.T1583C						.						128.0	123.0	125.0					1																	154224048		2203	4300	6503	SO:0001583	missense	9898	exon14			AGCCTGTCCTTTC	BC003170	CCDS1063.1, CCDS44229.1, CCDS72925.1	1q21.3	2008-02-05			ENSG00000143569	ENSG00000143569			29877	protein-coding gene	gene with protein product						8590280, 11230159	Standard	NM_014847		Approved	NICE-4, KIAA0144	uc001fep.4	Q14157	OTTHUMG00000035983	ENST00000361546.2:c.1583T>C	1.37:g.154224048T>C	ENSP00000355343:p.Val528Ala	56	1		72	22	NM_001127320	0	0	45	79	34	B4E0U8|Q5VU75|Q5VU76|Q9BTU3|Q9UGL2|Q9UGL3|Q9UGL4|Q9UGL5	Missense_Mutation	SNP	ENST00000361546.2	37	CCDS1063.1	.	.	.	.	.	.	.	.	.	.	T	11.82	1.752368	0.31046	.	.	ENSG00000143569	ENST00000343815;ENST00000428931;ENST00000456955;ENST00000433006;ENST00000271877;ENST00000361546	T;T;T;T	0.11169	2.8;2.81;2.8;2.81	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.08714	0.0216	N	0.19112	0.55	0.58432	D	0.999999	D;P;D;D;D	0.61697	0.984;0.459;0.99;0.99;0.984	D;B;D;D;D	0.70935	0.935;0.259;0.971;0.971;0.956	T	0.35773	-0.9775	10	0.10902	T	0.67	-7.4611	14.5433	0.68011	0.0:0.0:0.0:1.0	.	442;539;521;528;528	B4DZJ6;F8W726;Q14157-4;Q14157-1;Q14157	.;.;.;.;UBP2L_HUMAN	A	528;528;24;24;539;528	ENSP00000345308:V528A;ENSP00000389445:V528A;ENSP00000271877:V539A;ENSP00000355343:V528A	ENSP00000271877:V539A	V	+	2	0	UBAP2L	152490672	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.618000	0.61211	2.275000	0.75901	0.529000	0.55759	GTC	.		0.527	UBAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087673.1	NM_014847	
UBAP2L	9898	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	154224069	154224069	+	Frame_Shift_Del	DEL	C	C	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:154224069delC	ENST00000361546.2	+	13	1646	c.1604delC	c.(1603-1605)accfs	p.T535fs	UBAP2L_ENST00000271877.7_Frame_Shift_Del_p.T546fs|UBAP2L_ENST00000428931.1_Frame_Shift_Del_p.T535fs|UBAP2L_ENST00000343815.6_Frame_Shift_Del_p.T535fs|AL590431.1_ENST00000517008.1_RNA			Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	535					binding of sperm to zona pellucida (GO:0007339)		poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TATGAGTCCACCCCCACCACG	0.522																																					p.T535fs		.											.	UBAP2L-91	0			c.1604delC						.						107.0	105.0	106.0					1																	154224069		2203	4300	6503	SO:0001589	frameshift_variant	9898	exon14			AGTCCACCCCCAC	BC003170	CCDS1063.1, CCDS44229.1, CCDS72925.1	1q21.3	2008-02-05			ENSG00000143569	ENSG00000143569			29877	protein-coding gene	gene with protein product						8590280, 11230159	Standard	NM_014847		Approved	NICE-4, KIAA0144	uc001fep.4	Q14157	OTTHUMG00000035983	ENST00000361546.2:c.1604delC	1.37:g.154224069delC	ENSP00000355343:p.Thr535fs	60	0		64	14	NM_001127320	0	0	0	0	0	B4E0U8|Q5VU75|Q5VU76|Q9BTU3|Q9UGL2|Q9UGL3|Q9UGL4|Q9UGL5	Frame_Shift_Del	DEL	ENST00000361546.2	37	CCDS1063.1																																																																																			.		0.522	UBAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087673.1	NM_014847	
FLAD1	80308	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	154962713	154962713	+	Missense_Mutation	SNP	T	T	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:154962713T>A	ENST00000292180.3	+	4	1666	c.1344T>A	c.(1342-1344)ttT>ttA	p.F448L	FLAD1_ENST00000315144.10_Missense_Mutation_p.F351L|FLAD1_ENST00000405236.2_Missense_Mutation_p.F300Y|FLAD1_ENST00000368428.1_5'UTR|FLAD1_ENST00000368432.1_Missense_Mutation_p.F351L|FLAD1_ENST00000368433.1_Missense_Mutation_p.F448L|FLAD1_ENST00000295530.2_Missense_Mutation_p.F132Y	NM_025207.4	NP_079483.3	Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	448	FAD synthase.				FAD biosynthetic process (GO:0006747)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|riboflavin metabolic process (GO:0006771)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|FMN adenylyltransferase activity (GO:0003919)			endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TGGAACAGTTTCTACAGGACA	0.527																																					p.F448L		.											.	FLAD1-93	0			c.T1344A						.						150.0	154.0	152.0					1																	154962713		2203	4300	6503	SO:0001583	missense	80308	exon4			ACAGTTTCTACAG		CCDS1078.1, CCDS1079.1, CCDS53371.1, CCDS53372.1	1q22	2013-03-05	2013-03-05		ENSG00000160688	ENSG00000160688	2.7.7.2		24671	protein-coding gene	gene with protein product		610595	"""Fad1, flavin adenine dinucleotide synthetase, homolog (yeast)"", ""FAD1 flavin adenine dinucleotide synthetase homolog (S. cerevisiae)"", ""flavin adenine dinucleotide synthetase"""				Standard	NM_001184891		Approved	PP591, FAD1	uc001fgf.2	Q8NFF5	OTTHUMG00000037416	ENST00000292180.3:c.1344T>A	1.37:g.154962713T>A	ENSP00000292180:p.Phe448Leu	98	0		155	65	NM_025207	0	0	40	51	11	Q8N5J1|Q8N686|Q8WU93|Q8WUJ4|Q96CR8|Q99764|Q9HBN6	Missense_Mutation	SNP	ENST00000292180.3	37	CCDS1078.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.2|23.2	4.390075|4.390075	0.82902|0.82902	.|.	.|.	ENSG00000160688|ENSG00000160688	ENST00000368433;ENST00000315144;ENST00000368432;ENST00000292180|ENST00000405236;ENST00000295530	.|.	.|.	.|.	5.37|5.37	0.0512|0.0512	0.14296|0.14296	Phosphoadenosine phosphosulphate reductase (1);Rossmann-like alpha/beta/alpha sandwich fold (1);|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.51941|0.51941	0.1704|0.1704	M|M	0.89904|0.89904	3.07|3.07	0.21220|0.21220	N|N	0.999759|0.999759	D|D	0.89917|0.63880	1.0|0.993	D|P	0.97110|0.56563	1.0|0.801	T|T	0.55192|0.55192	-0.8179|-0.8179	9|9	0.87932|0.87932	D|D	0|0	-16.7034|-16.7034	11.0701|11.0701	0.47997|0.47997	0.0:0.6031:0.0:0.3969|0.0:0.6031:0.0:0.3969	.|.	448|132	Q8NFF5|Q5T191	FAD1_HUMAN|.	L|Y	448;351;351;448|300;132	.|.	ENSP00000292180:F448L|ENSP00000295530:F132Y	F|F	+|+	3|2	2|0	FLAD1|FLAD1	153229337|153229337	0.996000|0.996000	0.38824|0.38824	0.996000|0.996000	0.52242|0.52242	0.968000|0.968000	0.65278|0.65278	0.368000|0.368000	0.20399|0.20399	-0.140000|-0.140000	0.11394|0.11394	0.533000|0.533000	0.62120|0.62120	TTT|TTC	.		0.527	FLAD1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091089.1	NM_025207	
ASH1L	55870	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	155452085	155452085	+	Silent	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:155452085C>T	ENST00000368346.3	-	3	1215	c.576G>A	c.(574-576)acG>acA	p.T192T	ASH1L_ENST00000548830.1_3'UTR|ASH1L_ENST00000392403.3_Silent_p.T192T			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	192					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			GAGTAGATGGCGTTGCATTAA	0.418																																					p.T192T		.											.	ASH1L-234	0			c.G576A						.						156.0	157.0	157.0					1																	155452085		2203	4300	6503	SO:0001819	synonymous_variant	55870	exon3			AGATGGCGTTGCA	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.576G>A	1.37:g.155452085C>T		74	0		95	38	NM_018489	0	0	4	10	6	Q59GP1|Q5T714|Q5T715|Q9P2C7	Silent	SNP	ENST00000368346.3	37																																																																																				.		0.418	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489	
KIAA0907	22889	broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	155885735	155885735	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:155885735G>A	ENST00000368321.3	-	13	1597	c.1574C>T	c.(1573-1575)gCc>gTc	p.A525V	KIAA0907_ENST00000368320.3_Missense_Mutation_p.A525V	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	525							RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			CACTGGAAAGGCTGGTGGAGG	0.413																																					p.A525V		.											.	KIAA0907-90	0			c.C1574T						.						214.0	211.0	212.0					1																	155885735		2203	4300	6503	SO:0001583	missense	22889	exon13			GGAAAGGCTGGTG	BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680			29145	protein-coding gene	gene with protein product						10048485	Standard	NM_014949		Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368321.3:c.1574C>T	1.37:g.155885735G>A	ENSP00000357304:p.Ala525Val	56	1		56	17	NM_014949	0	0	11	17	6	O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Missense_Mutation	SNP	ENST00000368321.3	37	CCDS30885.1	.	.	.	.	.	.	.	.	.	.	G	18.33	3.601375	0.66445	.	.	ENSG00000132680	ENST00000368321;ENST00000368320	T	0.32023	1.47	6.02	6.02	0.97574	.	0.263978	0.41097	D	0.000951	T	0.10766	0.0263	N	0.19112	0.55	0.80722	D	1	P;B	0.36535	0.557;0.403	B;B	0.25140	0.058;0.04	T	0.04961	-1.0915	10	0.62326	D	0.03	-5.3086	15.6007	0.76623	0.0:0.137:0.863:0.0	.	525;525	Q7Z7F0-2;Q7Z7F0	.;K0907_HUMAN	V	525	ENSP00000357304:A525V	ENSP00000357303:A525V	A	-	2	0	KIAA0907	154152359	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.389000	0.59639	2.857000	0.98124	0.650000	0.86243	GCC	.		0.413	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039583.1	NM_014949	
SH2D2A	9047	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	156779155	156779155	+	Missense_Mutation	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:156779155T>C	ENST00000368199.3	-	7	995	c.842A>G	c.(841-843)aAt>aGt	p.N281S	SH2D2A_ENST00000368198.3_Missense_Mutation_p.N263S|SH2D2A_ENST00000392306.2_Missense_Mutation_p.N291S	NM_001161443.1|NM_001161444.1|NM_003975.3	NP_001154915.1|NP_001154916.1|NP_003966.2	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	281	Pro-rich.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					ATCAGGCTCATTGTAGATAGG	0.607																																					p.N291S		.											.	SH2D2A-90	0			c.A872G						.						104.0	108.0	107.0					1																	156779155		2203	4300	6503	SO:0001583	missense	9047	exon7			GGCTCATTGTAGA	AJ000553	CCDS1159.1, CCDS53380.1, CCDS53381.1	1q21	2013-02-14	2010-04-21		ENSG00000027869	ENSG00000027869		"""SH2 domain containing"""	10821	protein-coding gene	gene with protein product	"""T lymphocyte specific adaptor protein"", ""T cell specific adapter protein TSAd"", ""T cell specific adpater protein TSAd"""	604514	"""SH2 domain protein 2A"""			9468509	Standard	NM_003975		Approved	TSAd, F2771	uc009wsh.2	Q9NP31	OTTHUMG00000041305	ENST00000368199.3:c.842A>G	1.37:g.156779155T>C	ENSP00000357182:p.Asn281Ser	73	0		83	26	NM_001161441	0	0	0	0	0	O43817|Q5UBZ1|Q5VZS4|Q5VZS5|Q9UPA7	Missense_Mutation	SNP	ENST00000368199.3	37	CCDS1159.1	.	.	.	.	.	.	.	.	.	.	T	8.255	0.809889	0.16537	.	.	ENSG00000027869	ENST00000368199;ENST00000368198;ENST00000392306	T;T;T	0.54866	0.56;0.55;0.98	3.58	3.58	0.41010	.	1.670430	0.03157	N	0.168842	T	0.16300	0.0392	N	0.19112	0.55	0.09310	N	1	B;B;B	0.32467	0.372;0.255;0.156	B;B;B	0.25140	0.058;0.026;0.026	T	0.12116	-1.0560	10	0.11794	T	0.64	0.1309	10.4002	0.44225	0.0:0.0:0.0:1.0	.	291;263;281	Q9NP31-2;Q5VZS4;Q9NP31	.;.;SH22A_HUMAN	S	281;263;291	ENSP00000357182:N281S;ENSP00000357181:N263S;ENSP00000376123:N291S	ENSP00000357181:N263S	N	-	2	0	SH2D2A	155045779	0.900000	0.30661	0.041000	0.18516	0.256000	0.26092	2.751000	0.47508	1.609000	0.50190	0.454000	0.30748	AAT	.		0.607	SH2D2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098982.1	NM_003975	
SH2D2A	9047	broad.mit.edu;bcgsc.ca;mdanderson.org	37	1	156779558	156779558	+	Silent	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:156779558T>C	ENST00000368199.3	-	6	762	c.609A>G	c.(607-609)tcA>tcG	p.S203S	SH2D2A_ENST00000368198.3_Silent_p.S185S|SH2D2A_ENST00000392306.2_Silent_p.S213S	NM_001161443.1|NM_001161444.1|NM_003975.3	NP_001154915.1|NP_001154916.1|NP_003966.2	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	203	Pro-rich.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TTCCAAAGTTTGATTCTTCGG	0.587																																					p.S213S		.											.	SH2D2A-90	0			c.A639G						.						146.0	138.0	140.0					1																	156779558		2203	4300	6503	SO:0001819	synonymous_variant	9047	exon6			AAAGTTTGATTCT	AJ000553	CCDS1159.1, CCDS53380.1, CCDS53381.1	1q21	2013-02-14	2010-04-21		ENSG00000027869	ENSG00000027869		"""SH2 domain containing"""	10821	protein-coding gene	gene with protein product	"""T lymphocyte specific adaptor protein"", ""T cell specific adapter protein TSAd"", ""T cell specific adpater protein TSAd"""	604514	"""SH2 domain protein 2A"""			9468509	Standard	NM_003975		Approved	TSAd, F2771	uc009wsh.2	Q9NP31	OTTHUMG00000041305	ENST00000368199.3:c.609A>G	1.37:g.156779558T>C		51	1		95	47	NM_001161441	0	0	0	0	0	O43817|Q5UBZ1|Q5VZS4|Q5VZS5|Q9UPA7	Silent	SNP	ENST00000368199.3	37	CCDS1159.1																																																																																			.		0.587	SH2D2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098982.1	NM_003975	
ARHGEF11	9826	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	156926236	156926236	+	Silent	SNP	T	T	A	rs370894206		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:156926236T>A	ENST00000361409.2	-	18	2269	c.1527A>T	c.(1525-1527)ctA>ctT	p.L509L	ARHGEF11_ENST00000368194.3_Silent_p.L549L	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	509					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GGAAGAACGGTAGCCACTTGT	0.547																																					p.L549L		.											.	ARHGEF11-233	0			c.A1647T						.						163.0	148.0	154.0					1																	156926236		2203	4300	6503	SO:0001819	synonymous_variant	9826	exon19			GAACGGTAGCCAC	AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"""Rho guanine nucleotide exchange factors"""	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.1527A>T	1.37:g.156926236T>A		86	1		134	66	NM_198236	0	0	17	27	10	D3DVD0|Q5VY40|Q6PFW2	Silent	SNP	ENST00000361409.2	37	CCDS1162.1																																																																																			.		0.547	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	NM_198236	
ARHGEF11	9826	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	156954154	156954154	+	Missense_Mutation	SNP	A	A	T	rs151017400		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:156954154A>T	ENST00000361409.2	-	3	942	c.200T>A	c.(199-201)gTt>gAt	p.V67D	ARHGEF11_ENST00000368194.3_Missense_Mutation_p.V67D|RN7SL612P_ENST00000497704.2_RNA	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	67	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CTGCACCAGAACAATGCGATC	0.547																																					p.V67D		.											.	ARHGEF11-233	0			c.T200A						.						147.0	84.0	105.0					1																	156954154		2203	4298	6501	SO:0001583	missense	9826	exon3			ACCAGAACAATGC	AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"""Rho guanine nucleotide exchange factors"""	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.200T>A	1.37:g.156954154A>T	ENSP00000354644:p.Val67Asp	188	0		229	92	NM_198236	0	0	10	16	6	D3DVD0|Q5VY40|Q6PFW2	Missense_Mutation	SNP	ENST00000361409.2	37	CCDS1162.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.218967	0.79464	.	.	ENSG00000132694	ENST00000368194;ENST00000361409	T;T	0.33216	1.42;1.42	5.08	5.08	0.68730	PDZ/DHR/GLGF (4);	0.000000	0.50627	D	0.000109	T	0.52533	0.1740	M	0.87617	2.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.98;0.988	T	0.62666	-0.6806	10	0.87932	D	0	-15.153	13.9783	0.64285	1.0:0.0:0.0:0.0	.	67;67	O15085;O15085-2	ARHGB_HUMAN;.	D	67	ENSP00000357177:V67D;ENSP00000354644:V67D	ENSP00000354644:V67D	V	-	2	0	ARHGEF11	155220778	0.989000	0.36119	0.100000	0.21137	0.973000	0.67179	5.057000	0.64294	2.127000	0.65507	0.533000	0.62120	GTT	A|1.000;C|0.000		0.547	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	NM_198236	
CD5L	922	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	157803262	157803262	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:157803262G>A	ENST00000368174.4	-	5	855	c.759C>T	c.(757-759)tgC>tgT	p.C253C	CD5L_ENST00000484609.1_5'Flank	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	253	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	scavenger receptor activity (GO:0005044)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GTCGCCCAGAGCAGAGGTTGT	0.542																																					p.C253C		.											.	CD5L-91	0			c.C759T						.						100.0	105.0	104.0					1																	157803262		2203	4300	6503	SO:0001819	synonymous_variant	922	exon5			CCCAGAGCAGAGG	U82812	CCDS1171.1	1q21-q23	2008-02-05	2006-03-28		ENSG00000073754	ENSG00000073754			1690	protein-coding gene	gene with protein product		602592	"""apoptosis inhibitor 6"", ""CD5 antigen-like (scavenger receptor cysteine rich family)"""	API6		9045627	Standard	NM_005894		Approved	Spalpha	uc001frk.4	O43866	OTTHUMG00000022440	ENST00000368174.4:c.759C>T	1.37:g.157803262G>A		52	0		55	30	NM_005894	0	0	0	0	0	A8K7M5|Q6UX63	Silent	SNP	ENST00000368174.4	37	CCDS1171.1																																																																																			.		0.542	CD5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058346.1	NM_005894	
CD5L	922	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	157804424	157804424	+	Missense_Mutation	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:157804424T>C	ENST00000368174.4	-	4	587	c.491A>G	c.(490-492)cAg>cGg	p.Q164R	CD5L_ENST00000484609.1_5'Flank	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	164	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	scavenger receptor activity (GO:0005044)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CCAGCCTGTCTGGCACACGGT	0.617																																					p.Q164R		.											.	CD5L-91	0			c.A491G						.						97.0	95.0	96.0					1																	157804424		2203	4300	6503	SO:0001583	missense	922	exon4			CCTGTCTGGCACA	U82812	CCDS1171.1	1q21-q23	2008-02-05	2006-03-28		ENSG00000073754	ENSG00000073754			1690	protein-coding gene	gene with protein product		602592	"""apoptosis inhibitor 6"", ""CD5 antigen-like (scavenger receptor cysteine rich family)"""	API6		9045627	Standard	NM_005894		Approved	Spalpha	uc001frk.4	O43866	OTTHUMG00000022440	ENST00000368174.4:c.491A>G	1.37:g.157804424T>C	ENSP00000357156:p.Gln164Arg	84	0		90	32	NM_005894	0	0	0	0	0	A8K7M5|Q6UX63	Missense_Mutation	SNP	ENST00000368174.4	37	CCDS1171.1	.	.	.	.	.	.	.	.	.	.	T	12.57	1.977132	0.34848	.	.	ENSG00000073754	ENST00000368174	T	0.27890	1.64	5.13	3.99	0.46301	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.882556	0.09693	N	0.768156	T	0.08044	0.0201	N	0.20685	0.6	0.09310	N	1	B	0.25904	0.137	B	0.30251	0.113	T	0.36383	-0.9750	10	0.54805	T	0.06	.	4.3728	0.11256	0.1746:0.0902:0.0:0.7352	.	164	O43866	CD5L_HUMAN	R	164	ENSP00000357156:Q164R	ENSP00000357156:Q164R	Q	-	2	0	CD5L	156071048	0.141000	0.22595	0.002000	0.10522	0.004000	0.04260	0.990000	0.29642	0.946000	0.37632	-0.336000	0.08194	CAG	.		0.617	CD5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058346.1	NM_005894	
KIRREL	55243	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	158064671	158064671	+	Missense_Mutation	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:158064671A>G	ENST00000359209.6	+	15	2102	c.2035A>G	c.(2035-2037)Acc>Gcc	p.T679A	KIRREL_ENST00000360089.4_Missense_Mutation_p.T515A|KIRREL_ENST00000368173.3_Missense_Mutation_p.T695A|KIRREL_ENST00000416935.2_Missense_Mutation_p.T579A|KIRREL_ENST00000368172.1_Missense_Mutation_p.T493A|KIRREL_ENST00000392272.2_Missense_Mutation_p.T576A			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	679					excretion (GO:0007588)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of actin filament polymerization (GO:0030838)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|dendritic shaft (GO:0043198)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	myosin binding (GO:0017022)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					CACTGACACAACCAGCCAGCT	0.647																																					p.T679A		.											.	KIRREL-91	0			c.A2035G						.						49.0	51.0	50.0					1																	158064671		2203	4300	6503	SO:0001583	missense	55243	exon15			GACACAACCAGCC	AK001707	CCDS1172.2, CCDS72952.1	1q21-q25	2013-01-29			ENSG00000183853	ENSG00000183853		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15734	protein-coding gene	gene with protein product	"""nephrin-like protein 1"""	607428				12424224	Standard	NM_001286349		Approved	NEPH1	uc001frn.4	Q96J84	OTTHUMG00000022438	ENST00000359209.6:c.2035A>G	1.37:g.158064671A>G	ENSP00000352138:p.Thr679Ala	173	0		239	96	NM_018240	0	0	6	6	0	Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Missense_Mutation	SNP	ENST00000359209.6	37	CCDS1172.2	.	.	.	.	.	.	.	.	.	.	A	9.184	1.024344	0.19433	.	.	ENSG00000183853	ENST00000360089;ENST00000368173;ENST00000392272;ENST00000359209;ENST00000416935;ENST00000368172	T;T;T;T;T;T	0.70399	0.48;-0.48;0.13;-0.12;-0.03;0.33	4.76	-2.24	0.06909	.	0.523996	0.16002	N	0.234268	T	0.24928	0.0605	N	0.19112	0.55	0.22511	N	0.999036	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.38607	-0.9653	10	0.10636	T	0.68	-11.7384	10.2985	0.43637	0.4491:0.0:0.5509:0.0	.	579;515;493;679	B4DN67;Q5W0F9;Q5W0G0;Q96J84	.;.;.;KIRR1_HUMAN	A	515;695;576;679;579;493	ENSP00000353202:T515A;ENSP00000357155:T695A;ENSP00000376098:T576A;ENSP00000352138:T679A;ENSP00000389674:T579A;ENSP00000357154:T493A	ENSP00000352138:T679A	T	+	1	0	KIRREL	156331295	0.001000	0.12720	0.048000	0.18961	0.921000	0.55340	-0.019000	0.12546	-0.367000	0.08052	0.459000	0.35465	ACC	.		0.647	KIRREL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058342.3	NM_018240	
OR10K2	391107	broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	158389762	158389762	+	Missense_Mutation	SNP	A	A	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:158389762A>T	ENST00000314902.2	-	1	894	c.895T>A	c.(895-897)Tca>Aca	p.S299T		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	299						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)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					CAAAGAGCTGATTTGAACTCT	0.363																																					p.S299T		.											.	OR10K2-69	0			c.T895A						.						58.0	63.0	62.0					1																	158389762		2203	4300	6503	SO:0001583	missense	391107	exon1			GAGCTGATTTGAA	AB065642	CCDS30896.1	1q23.1	2012-08-09			ENSG00000180708	ENSG00000180708		"""GPCR / Class A : Olfactory receptors"""	14826	protein-coding gene	gene with protein product							Standard	NM_001004476		Approved		uc010pii.2	Q6IF99	OTTHUMG00000019638	ENST00000314902.2:c.895T>A	1.37:g.158389762A>T	ENSP00000324251:p.Ser299Thr	133	1		167	62	NM_001004476	0	0	0	0	0		Missense_Mutation	SNP	ENST00000314902.2	37	CCDS30896.1	.	.	.	.	.	.	.	.	.	.	a	0.019	-1.462929	0.01062	.	.	ENSG00000180708	ENST00000314902	T	0.37584	1.19	4.12	2.94	0.34122	.	0.723828	0.11384	N	0.569532	T	0.05364	0.0142	N	0.05351	-0.065	0.25266	N	0.989551	B	0.13145	0.007	B	0.10450	0.005	T	0.42799	-0.9430	10	0.15952	T	0.53	.	5.9663	0.19326	0.668:0.1689:0.0:0.1631	.	299	Q6IF99	O10K2_HUMAN	T	299	ENSP00000324251:S299T	ENSP00000324251:S299T	S	-	1	0	OR10K2	156656386	0.000000	0.05858	0.910000	0.35882	0.144000	0.21451	-0.395000	0.07287	0.681000	0.31386	0.482000	0.46254	TCA	.		0.363	OR10K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051854.1	NM_001004476	
OR10Z1	128368	hgsc.bcm.edu;bcgsc.ca	37	1	158576487	158576487	+	Frame_Shift_Del	DEL	G	G	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:158576487delG	ENST00000361284.1	+	1	259	c.259delG	c.(259-261)gggfs	p.G88fs		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	88						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(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					TGGCCTGGCTGGGGGGGACCA	0.552																																					p.G87fs		.											.	OR10Z1-70	0			c.259delG						.						183.0	191.0	188.0					1																	158576487		2203	4300	6503	SO:0001589	frameshift_variant	128368	exon1			CTGGCTGGGGGGG	AB065635	CCDS30901.1	1q23.1	2012-08-23			ENSG00000198967	ENSG00000198967		"""GPCR / Class A : Olfactory receptors"""	14996	protein-coding gene	gene with protein product							Standard	NM_001004478		Approved		uc010pio.2	Q8NGY1	OTTHUMG00000019637	ENST00000361284.1:c.259delG	1.37:g.158576487delG	ENSP00000354707:p.Gly88fs	104	1		135	54	NM_001004478	0	0	0	0	0	Q5VYL0|Q6IFR7	Frame_Shift_Del	DEL	ENST00000361284.1	37	CCDS30901.1																																																																																			.		0.552	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051853.1	NM_001004478	
IGSF9	57549	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	159898610	159898610	+	Frame_Shift_Del	DEL	C	C	-	rs566383386		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:159898610delC	ENST00000368094.1	-	19	2765	c.2568delG	c.(2566-2568)gggfs	p.G856fs	IGSF9_ENST00000493195.1_5'UTR|IGSF9_ENST00000361509.3_Frame_Shift_Del_p.G840fs	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	856	Pro-rich.				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)			CCACAGTGGGCCCCATCACAA	0.682																																					p.G856fs		.											.	IGSF9-156	0			c.2568delG						.						6.0	6.0	6.0					1																	159898610		2092	4139	6231	SO:0001589	frameshift_variant	57549	exon19			AGTGGGCCCCATC	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.2568delG	1.37:g.159898610delC	ENSP00000357073:p.Gly856fs	36	0		37	12	NM_001135050	0	0	0	0	0		Frame_Shift_Del	DEL	ENST00000368094.1	37	CCDS44254.1																																																																																			.		0.682	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059115.1	NM_020789	
KCNJ10	3766	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	1	160011970	160011970	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:160011970G>A	ENST00000368089.3	-	2	579	c.353C>T	c.(352-354)gCc>gTc	p.A118V	KCNJ10_ENST00000509700.1_5'UTR	NM_002241.4	NP_002232.2	P78508	KCJ10_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 10	118					adult walking behavior (GO:0007628)|central nervous system myelination (GO:0022010)|inflammatory response (GO:0006954)|L-glutamate uptake involved in synaptic transmission (GO:0051935)|membrane hyperpolarization (GO:0060081)|optic nerve development (GO:0021554)|potassium ion homeostasis (GO:0055075)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of resting membrane potential (GO:0060075)|regulation of sensory perception of pain (GO:0051930)|response to blue light (GO:0009637)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|synaptic transmission (GO:0007268)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)		Yohimbine(DB01392)	GAAGAGGAAGGCTCCAGTGAG	0.572																																					p.A118V	GBM(167;1368 2014 14817 36425 43215)	.											.	KCNJ10-91	0			c.C353T						.						125.0	127.0	126.0					1																	160011970		2203	4300	6503	SO:0001583	missense	3766	exon2			AGGAAGGCTCCAG	U52155	CCDS1193.1	1q23.2	2011-07-05			ENSG00000177807	ENSG00000177807		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6256	protein-coding gene	gene with protein product		602208				9367690, 8995301, 16382105	Standard	NM_002241		Approved	Kir4.1, Kir1.2	uc001fuw.2	P78508	OTTHUMG00000024073	ENST00000368089.3:c.353C>T	1.37:g.160011970G>A	ENSP00000357068:p.Ala118Val	96	0		134	55	NM_002241	0	0	0	0	0	A3KME7|Q5VUT9|Q8N4I7|Q92808	Missense_Mutation	SNP	ENST00000368089.3	37	CCDS1193.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.614180	0.87359	.	.	ENSG00000177807	ENST00000368089	D	0.97352	-4.35	5.26	5.26	0.73747	Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);	0.000000	0.85682	D	0.000000	D	0.98773	0.9587	M	0.92367	3.3	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99548	1.0965	10	0.87932	D	0	.	16.4095	0.83703	0.0:0.0:1.0:0.0	.	118	P78508	IRK10_HUMAN	V	118	ENSP00000357068:A118V	ENSP00000357068:A118V	A	-	2	0	KCNJ10	158278594	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.657000	0.98554	2.735000	0.93741	0.655000	0.94253	GCC	.		0.572	KCNJ10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060629.1	NM_002241	
F11R	50848	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	160969185	160969185	+	Splice_Site	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:160969185C>T	ENST00000368026.6	-	8	1090		c.e8+1		F11R_ENST00000537746.1_Splice_Site|F11R_ENST00000289779.3_Splice_Site|F11R_ENST00000472573.1_5'Flank	NM_016946.4	NP_058642.1	Q9Y624	JAM1_HUMAN	F11 receptor						blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|leukocyte migration (GO:0050900)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)	12	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00207)			ACCTCACTCACCCTTTCTTTG	0.527																																					.		.											.	F11R-92	0			c.815+1G>A						.						207.0	204.0	205.0					1																	160969185		2203	4300	6503	SO:0001630	splice_region_variant	50848	exon9			CACTCACCCTTTC	AF111713	CCDS1213.1	1q21.2-q21.3	2013-01-29	2003-02-07	2003-02-14	ENSG00000158769	ENSG00000158769		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14685	protein-coding gene	gene with protein product		605721	"""junctional adhesion molecule 1"""	JAM1		10395639, 7646439	Standard	NM_016946		Approved	PAM-1, JCAM, JAM-1, JAM-A, JAMA, CD321	uc009wtt.3	Q9Y624	OTTHUMG00000028602	ENST00000368026.6:c.815+1G>A	1.37:g.160969185C>T		196	0		195	71	NM_016946	0	0	0	0	0	B7Z941	Splice_Site	SNP	ENST00000368026.6	37	CCDS1213.1	.	.	.	.	.	.	.	.	.	.	C	17.67	3.446920	0.63178	.	.	ENSG00000158769	ENST00000368026;ENST00000335772;ENST00000289779;ENST00000537746;ENST00000436182	.	.	.	4.93	4.93	0.64822	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5162	0.61541	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	F11R	159235809	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.747000	0.55134	2.543000	0.85770	0.557000	0.71058	.	.		0.527	F11R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071458.3	NM_016946	Intron
TSTD1	100131187	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	161007709	161007709	+	Missense_Mutation	SNP	T	T	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:161007709T>A	ENST00000423014.2	-	3	390	c.290A>T	c.(289-291)tAc>tTc	p.Y97F	TSTD1_ENST00000368023.3_Missense_Mutation_p.Y104F|F11R_ENST00000289779.3_Intron|TSTD1_ENST00000368024.1_Missense_Mutation_p.Y56F|TSTD1_ENST00000466967.1_Missense_Mutation_p.Y44F|TSTD1_ENST00000318289.10_Missense_Mutation_p.Y97F	NM_001113205.1|NM_001113207.1	NP_001106676.1|NP_001106678.1	Q8NFU3	TSTD1_HUMAN	thiosulfate sulfurtransferase (rhodanese)-like domain containing 1	97	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.					cytoplasm (GO:0005737)											GTACCCAGTGTATCCAAGACT	0.587																																					p.Y97F		.											.	.	0			c.A290T						.						47.0	56.0	53.0					1																	161007709		692	1591	2283	SO:0001583	missense	100131187	exon3			CCAGTGTATCCAA		CCDS44257.1, CCDS44258.1, CCDS53400.1	1q23.3	2009-09-02			ENSG00000215845	ENSG00000215845			35410	protein-coding gene	gene with protein product						12817473	Standard	NM_001113205		Approved	KAT		Q8NFU3	OTTHUMG00000031476	ENST00000423014.2:c.290A>T	1.37:g.161007709T>A	ENSP00000388293:p.Tyr97Phe	72	0		117	48	NM_001113207	0	0	0	0	0	Q5SY48|Q5SY49|Q5SY50|Q5SY51|Q8NFU2|Q9BV22	Missense_Mutation	SNP	ENST00000423014.2	37	CCDS53400.1	.	.	.	.	.	.	.	.	.	.	T	1.665	-0.510503	0.04231	.	.	ENSG00000215845	ENST00000318289;ENST00000368023;ENST00000368024;ENST00000423014	T;T;T;T	0.30714	1.52;1.52;1.52;1.52	5.15	5.15	0.70609	Rhodanese-like (5);	0.404099	0.22155	N	0.063865	T	0.07234	0.0183	N	0.05441	-0.05	0.34597	D	0.716099	B;B;P	0.40619	0.43;0.38;0.724	B;B;B	0.39152	0.251;0.15;0.292	T	0.15093	-1.0449	10	0.20519	T	0.43	-12.6165	11.3	0.49300	0.0:0.0:0.0:1.0	.	97;56;97	Q8NFU3;Q8NFU3-2;Q8NFU3-3	TSTD1_HUMAN;.;.	F	97;104;56;97	ENSP00000325518:Y97F;ENSP00000357002:Y104F;ENSP00000357003:Y56F;ENSP00000388293:Y97F	ENSP00000325518:Y97F	Y	-	2	0	TSTD1	159274333	0.990000	0.36364	0.991000	0.47740	0.155000	0.21991	3.041000	0.49807	2.155000	0.67459	0.460000	0.39030	TAC	.		0.587	TSTD1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077078.2	NM_001113207	
USP21	27005	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	161130942	161130942	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:161130942G>A	ENST00000289865.8	+	2	733	c.512G>A	c.(511-513)aGc>aAc	p.S171N	USP21_ENST00000368001.1_Missense_Mutation_p.S171N|RP11-297K8.2_ENST00000420498.1_RNA|USP21_ENST00000368002.3_Missense_Mutation_p.S171N	NM_012475.4	NP_036607.3	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	171					histone deubiquitination (GO:0016578)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cysteine-type peptidase activity (GO:0008234)|metal ion binding (GO:0046872)|NEDD8-specific protease activity (GO:0019784)|transcription coactivator activity (GO:0003713)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			ACCCTGTTCAGCATACGGACA	0.607																																					p.S171N		.											.	USP21-660	0			c.G512A						.						57.0	55.0	55.0					1																	161130942		2203	4300	6503	SO:0001583	missense	27005	exon3			TGTTCAGCATACG	AF177758	CCDS30920.1	1q22	2008-04-11	2005-08-08		ENSG00000143258	ENSG00000143258		"""Ubiquitin-specific peptidases"""	12620	protein-coding gene	gene with protein product		604729	"""ubiquitin specific protease 21"""	USP23		12838346, 10799498	Standard	XM_006711273		Approved	USP16	uc010pkd.2	Q9UK80	OTTHUMG00000033154	ENST00000289865.8:c.512G>A	1.37:g.161130942G>A	ENSP00000289865:p.Ser171Asn	64	0		91	43	NM_001014443	0	0	10	25	15	Q59H60|Q5BKT5|Q5VTW9|Q5VTX0|Q9BTV1|Q9HBS2|Q9NYN4	Missense_Mutation	SNP	ENST00000289865.8	37	CCDS30920.1	.	.	.	.	.	.	.	.	.	.	G	8.514	0.867145	0.17250	.	.	ENSG00000143258	ENST00000368002;ENST00000289865;ENST00000368001	T;T;T	0.41758	0.99;0.99;0.99	4.89	1.82	0.25136	.	1.455470	0.04035	N	0.302210	T	0.10035	0.0246	N	0.08118	0	0.25835	N	0.984125	B	0.02656	0.0	B	0.01281	0.0	T	0.18085	-1.0348	10	0.41790	T	0.15	.	8.5973	0.33723	0.089:0.3074:0.6035:0.0	.	171	Q9UK80	UBP21_HUMAN	N	171	ENSP00000356981:S171N;ENSP00000289865:S171N;ENSP00000356980:S171N	ENSP00000289865:S171N	S	+	2	0	USP21	159397566	1.000000	0.71417	1.000000	0.80357	0.289000	0.27227	2.851000	0.48302	0.656000	0.30886	-0.502000	0.04539	AGC	.		0.607	USP21-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080801.1		
NDUFS2	4720	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	161173239	161173239	+	Missense_Mutation	SNP	G	G	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:161173239G>T	ENST00000367993.3	+	3	556	c.108G>T	c.(106-108)caG>caT	p.Q36H	NDUFS2_ENST00000476409.2_Intron|NDUFS2_ENST00000392179.4_Missense_Mutation_p.Q36H	NM_004550.4	NP_004541.1	O75306	NDUS2_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)	36					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|quinone binding (GO:0048038)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	18	all_cancers(52;1.16e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Doxorubicin(DB00997)	GTGTTCGGCAGTGGCAGCCAG	0.537																																					p.Q36H		.											.	NDUFS2-91	0			c.G108T						.						69.0	64.0	66.0					1																	161173239		2203	4300	6503	SO:0001583	missense	4720	exon2			TCGGCAGTGGCAG	BC008868	CCDS1224.1, CCDS53404.1	1q23.3	2011-07-04	2002-08-29		ENSG00000158864	ENSG00000158864	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7708	protein-coding gene	gene with protein product	"""complex I 49kDa subunit"", ""NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial"""	602985	"""NADH dehydrogenase (ubiquinone) Fe-S protein 2 (49kD) (NADH-coenzyme Q reductase)"""			1832859, 9585441	Standard	NM_004550		Approved	CI-49	uc001fyw.3	O75306	OTTHUMG00000034344	ENST00000367993.3:c.108G>T	1.37:g.161173239G>T	ENSP00000356972:p.Gln36His	106	0		148	10	NM_001166159	0	0	106	114	8	D3DVG7|J3KPM7|Q5VTW0|Q969P3|Q9UEV3	Missense_Mutation	SNP	ENST00000367993.3	37	CCDS1224.1	.	.	.	.	.	.	.	.	.	.	G	11.31	1.602394	0.28534	.	.	ENSG00000158864	ENST00000367993;ENST00000392179	D;D	0.85702	-2.02;-2.01	4.94	-9.41	0.00613	.	0.068742	0.64402	D	0.000016	T	0.53334	0.1790	N	0.22421	0.69	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.34354	-0.9832	10	0.16896	T	0.51	.	18.0349	0.89298	0.7217:0.0:0.2783:0.0	.	36;36	Q53HG2;O75306	.;NDUS2_HUMAN	H	36	ENSP00000356972:Q36H;ENSP00000376018:Q36H	ENSP00000356972:Q36H	Q	+	3	2	NDUFS2	159439863	0.084000	0.21492	0.217000	0.23759	0.984000	0.73092	-0.600000	0.05693	-2.267000	0.00686	-0.150000	0.13652	CAG	.		0.537	NDUFS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083015.1	NM_004550	
FCGR3A	2214	broad.mit.edu;bcgsc.ca	37	1	161514695	161514695	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:161514695G>A	ENST00000436743.1	-	5	527	c.373C>T	c.(373-375)Cac>Tac	p.H125Y	RP11-25K21.6_ENST00000537821.2_RNA|FCGR3A_ENST00000367969.3_Missense_Mutation_p.H161Y|FCGR3A_ENST00000476031.1_5'Flank|FCGR3A_ENST00000443193.1_Missense_Mutation_p.H160Y|FCGR3A_ENST00000540048.1_Missense_Mutation_p.H125Y	NM_001127593.1|NM_001127595.1|NM_001127596.1	NP_001121065.1|NP_001121067.1|NP_001121068.1	P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	125	Ig-like C2-type 2.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		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)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CACCTCAGGTGAATAGGGTCT	0.517																																					p.H161Y		.											.	FCGR3A-91	0			c.C481T						.						79.0	72.0	74.0					1																	161514695		2203	4297	6500	SO:0001583	missense	2214	exon4			TCAGGTGAATAGG	BC036723	CCDS1232.1, CCDS44266.1	1q23	2014-09-17	2005-02-02		ENSG00000203747	ENSG00000203747		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3619	protein-coding gene	gene with protein product		146740	"""Fc fragment of IgG, low affinity IIIa, receptor for (CD16)"""	FCGR3, FCG3		2139735	Standard	NM_001127592		Approved	CD16, CD16a	uc001gar.3	P08637	OTTHUMG00000034466	ENST00000436743.1:c.373C>T	1.37:g.161514695G>A	ENSP00000416607:p.His125Tyr	207	1		239	85	NM_000569	0	0	9	9	0	A2N6W9|Q53FJ0|Q53FL6|Q5EBR4|Q65ZM6|Q6PIJ0	Missense_Mutation	SNP	ENST00000436743.1	37	CCDS44266.1	.	.	.	.	.	.	.	.	.	.	G	13.05	2.121621	0.37436	.	.	ENSG00000203747	ENST00000367969;ENST00000443193;ENST00000436743;ENST00000367967;ENST00000540048	T;T;T;T;T	0.11930	2.73;2.73;2.73;2.73;2.73	5.03	-1.83	0.07833	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	3.080850	0.01020	N	0.003976	T	0.06050	0.0157	L	0.48642	1.525	0.09310	N	1	D;P;D	0.60575	0.988;0.944;0.962	P;B;P	0.55345	0.546;0.37;0.774	T	0.42413	-0.9453	10	0.02654	T	1	.	5.8314	0.18582	0.2621:0.4477:0.2903:0.0	.	125;160;125	P08637;E9PG94;Q9UPY7	FCG3A_HUMAN;.;.	Y	161;160;125;125;125	ENSP00000356946:H161Y;ENSP00000392047:H160Y;ENSP00000416607:H125Y;ENSP00000356944:H125Y;ENSP00000444971:H125Y	ENSP00000356944:H125Y	H	-	1	0	FCGR3A	159781319	0.000000	0.05858	0.000000	0.03702	0.137000	0.21094	-1.051000	0.03507	-0.154000	0.11118	0.467000	0.42956	CAC	.		0.517	FCGR3A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102169.2	NM_000569	
FCGR3A	2214	broad.mit.edu;bcgsc.ca;mdanderson.org	37	1	161514700	161514700	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:161514700G>A	ENST00000436743.1	-	5	522	c.368C>T	c.(367-369)cCt>cTt	p.P123L	RP11-25K21.6_ENST00000537821.2_RNA|FCGR3A_ENST00000367969.3_Missense_Mutation_p.P159L|FCGR3A_ENST00000476031.1_5'Flank|FCGR3A_ENST00000443193.1_Missense_Mutation_p.P158L|FCGR3A_ENST00000540048.1_Missense_Mutation_p.P123L	NM_001127593.1|NM_001127595.1|NM_001127596.1	NP_001121065.1|NP_001121067.1|NP_001121068.1	P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	123	Ig-like C2-type 2.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		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)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CAGGTGAATAGGGTCTTCCTC	0.527																																					p.P159L		.											.	FCGR3A-91	0			c.C476T						.						74.0	68.0	70.0					1																	161514700		2203	4297	6500	SO:0001583	missense	2214	exon4			TGAATAGGGTCTT	BC036723	CCDS1232.1, CCDS44266.1	1q23	2014-09-17	2005-02-02		ENSG00000203747	ENSG00000203747		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3619	protein-coding gene	gene with protein product		146740	"""Fc fragment of IgG, low affinity IIIa, receptor for (CD16)"""	FCGR3, FCG3		2139735	Standard	NM_001127592		Approved	CD16, CD16a	uc001gar.3	P08637	OTTHUMG00000034466	ENST00000436743.1:c.368C>T	1.37:g.161514700G>A	ENSP00000416607:p.Pro123Leu	197	1		230	81	NM_000569	0	0	9	9	0	A2N6W9|Q53FJ0|Q53FL6|Q5EBR4|Q65ZM6|Q6PIJ0	Missense_Mutation	SNP	ENST00000436743.1	37	CCDS44266.1	.	.	.	.	.	.	.	.	.	.	G	10.95	1.497211	0.26861	.	.	ENSG00000203747	ENST00000367969;ENST00000443193;ENST00000436743;ENST00000367967;ENST00000540048	T;T;T;T;T	0.12774	2.65;2.65;2.65;2.65;2.65	5.03	0.926	0.19430	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.692640	0.12590	N	0.455670	T	0.04227	0.0117	L	0.52823	1.66	0.09310	N	1	B;B;B	0.15473	0.0;0.001;0.013	B;B;B	0.19148	0.006;0.005;0.024	T	0.39702	-0.9601	10	0.62326	D	0.03	.	3.6824	0.08316	0.0872:0.2893:0.4574:0.1661	.	123;158;123	P08637;E9PG94;Q9UPY7	FCG3A_HUMAN;.;.	L	159;158;123;123;123	ENSP00000356946:P159L;ENSP00000392047:P158L;ENSP00000416607:P123L;ENSP00000356944:P123L;ENSP00000444971:P123L	ENSP00000356944:P123L	P	-	2	0	FCGR3A	159781324	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.169000	0.03120	0.038000	0.15604	-0.463000	0.05309	CCT	.		0.527	FCGR3A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102169.2	NM_000569	
UHMK1	127933	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	1	162467903	162467903	+	Missense_Mutation	SNP	A	A	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:162467903A>T	ENST00000489294.1	+	1	271	c.113A>T	c.(112-114)tAt>tTt	p.Y38F	UHMK1_ENST00000545294.1_Intron|UHMK1_ENST00000282169.8_3'UTR|UHMK1_ENST00000538489.1_Missense_Mutation_p.Y38F	NM_175866.4	NP_787062.1	Q8TAS1	UHMK1_HUMAN	U2AF homology motif (UHM) kinase 1	38	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.				cell cycle arrest (GO:0007050)|neuron projection development (GO:0031175)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of translational initiation (GO:0045948)|protein autophosphorylation (GO:0046777)|regulation of protein export from nucleus (GO:0046825)	axon (GO:0030424)|dendrite cytoplasm (GO:0032839)|neuronal ribonucleoprotein granule (GO:0071598)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|ribonucleoprotein complex binding (GO:0043021)|RNA binding (GO:0003723)|transferase activity (GO:0016740)			endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	11	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			GCCTCGGTGTATCGGGTTCGC	0.721																																					p.Y38F		.											.	UHMK1-358	0			c.A113T						.						11.0	13.0	12.0					1																	162467903		2169	4246	6415	SO:0001583	missense	127933	exon1			CGGTGTATCGGGT	BC026046	CCDS1239.1, CCDS53423.1, CCDS53424.1	1q23.1	2013-02-12			ENSG00000152332	ENSG00000152332		"""RNA binding motif (RRM) containing"""	19683	protein-coding gene	gene with protein product		608849				12093740, 12782393	Standard	NM_175866		Approved	KIS, Kist	uc001gcc.2	Q8TAS1	OTTHUMG00000031373	ENST00000489294.1:c.113A>T	1.37:g.162467903A>T	ENSP00000420270:p.Tyr38Phe	58	0		194	72	NM_144624	0	0	8	21	13	A8K8K4|G3V1M1|Q96C22	Missense_Mutation	SNP	ENST00000489294.1	37	CCDS1239.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.976116	0.74360	.	.	ENSG00000152332	ENST00000538489;ENST00000489294	T;T	0.25414	1.8;1.8	4.94	4.94	0.65067	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.21550	0.0519	L	0.35414	1.06	.	.	.	D;D	0.62365	0.988;0.991	D;D	0.74348	0.971;0.983	T	0.03898	-1.0994	9	0.14656	T	0.56	-7.2111	11.1664	0.48545	1.0:0.0:0.0:0.0	.	38;38	Q8TAS1-2;Q8TAS1	.;UHMK1_HUMAN	F	38	ENSP00000446416:Y38F;ENSP00000420270:Y38F	ENSP00000420270:Y38F	Y	+	2	0	UHMK1	160734527	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	3.667000	0.54547	2.192000	0.70111	0.533000	0.62120	TAT	.		0.721	UHMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076788.1	NM_175866	
FAM78B	149297	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	166135378	166135378	+	Silent	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:166135378C>T	ENST00000338353.3	-	2	697	c.108G>A	c.(106-108)gaG>gaA	p.E36E	FAM78B_ENST00000354422.3_Silent_p.E36E|RP11-9L18.3_ENST00000451784.1_RNA			Q5VT40	FA78B_HUMAN	family with sequence similarity 78, member B	36										central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)					TGGGCGAGGTCTCCTCGATGC	0.652																																					p.E36E		.											.	FAM78B-91	0			c.G108A						.						85.0	61.0	69.0					1																	166135378		2202	4300	6502	SO:0001819	synonymous_variant	149297	exon1			CGAGGTCTCCTCG	AL626787	CCDS30931.1	1q24.1	2008-02-05			ENSG00000188859	ENSG00000188859			13495	protein-coding gene	gene with protein product							Standard	NM_001017961		Approved		uc021pee.1	Q5VT40	OTTHUMG00000034705	ENST00000338353.3:c.108G>A	1.37:g.166135378C>T		135	0		195	76	NM_001017961	0	0	1	2	1	B7Z693	Silent	SNP	ENST00000338353.3	37	CCDS30931.1																																																																																			.		0.652	FAM78B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343108.1	NM_001017961	
SELP	6403	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	169578907	169578907	+	Missense_Mutation	SNP	C	C	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:169578907C>G	ENST00000263686.6	-	8	1205	c.1168G>C	c.(1168-1170)Gag>Cag	p.E390Q	SELP_ENST00000367792.2_Missense_Mutation_p.E328Q|SELP_ENST00000367794.2_Missense_Mutation_p.E328Q|SELP_ENST00000367793.2_Missense_Mutation_p.E328Q|SELP_ENST00000458599.2_Missense_Mutation_p.E328Q|SELP_ENST00000367786.2_Missense_Mutation_p.E328Q|SELP_ENST00000367791.2_Intron|SELP_ENST00000367788.2_Missense_Mutation_p.E328Q	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	390	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	ACAGGACTCTCCAGCGGCTCA	0.478																																					p.E390Q		.											.	SELP-94	0			c.G1168C						.						76.0	66.0	69.0					1																	169578907		2203	4300	6503	SO:0001583	missense	6403	exon8			GACTCTCCAGCGG	BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"""CD molecules"""	10721	protein-coding gene	gene with protein product		173610	"""selectin P (granule membrane protein 140kD, antigen CD62)"""	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.1168G>C	1.37:g.169578907C>G	ENSP00000263686:p.Glu390Gln	74	0		102	50	NM_003005	0	0	0	0	0	Q5R344|Q8IVD1	Missense_Mutation	SNP	ENST00000263686.6	37	CCDS1282.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.65|15.65	2.895342|2.895342	0.52121|0.52121	.|.	.|.	ENSG00000174175|ENSG00000174175	ENST00000367790;ENST00000426706;ENST00000367789;ENST00000263686;ENST00000544572;ENST00000367793;ENST00000367794;ENST00000367792;ENST00000367788;ENST00000367786;ENST00000458599|ENST00000446728	T;T;T;T;T;T|.	0.64438|.	-0.1;-0.1;-0.1;-0.1;-0.1;-0.1|.	5.44|5.44	3.54|3.54	0.40534|0.40534	Complement control module (2);Sushi/SCR/CCP (3);|.	0.412971|.	0.23141|.	N|.	0.051467|.	T|T	0.20659|0.20659	0.0497|0.0497	L|L	0.52266|0.52266	1.64|1.64	0.22479|0.22479	N|N	0.999069|0.999069	D;P;D|.	0.59357|.	0.979;0.73;0.985|.	P;P;P|.	0.60541|.	0.876;0.513;0.804|.	T|T	0.22836|0.22836	-1.0205|-1.0205	10|5	0.18710|.	T|.	0.47|.	-4.3241|-4.3241	4.7479|4.7479	0.13047|0.13047	0.1547:0.614:0.1496:0.0817|0.1547:0.614:0.1496:0.0817	.|.	390;390;390|.	Q6NUL9;P16109;G3V1U2|.	.;LYAM3_HUMAN;.|.	Q|A	390;389;328;390;390;328;328;328;328;328;313|327	ENSP00000263686:E390Q;ENSP00000356767:E328Q;ENSP00000356768:E328Q;ENSP00000356766:E328Q;ENSP00000356762:E328Q;ENSP00000356760:E328Q|.	ENSP00000263686:E390Q|.	E|G	-|-	1|2	0|0	SELP|SELP	167845531|167845531	0.000000|0.000000	0.05858|0.05858	0.122000|0.122000	0.21767|0.21767	0.821000|0.821000	0.46438|0.46438	0.111000|0.111000	0.15458|0.15458	0.754000|0.754000	0.32968|0.32968	0.650000|0.650000	0.86243|0.86243	GAG|GGA	.		0.478	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083916.4	NM_003005	
FMO2	2327	broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	171168622	171168622	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:171168622G>A	ENST00000209929.7	+	5	780	c.622G>A	c.(622-624)Gct>Act	p.A208T	FMO2_ENST00000529935.1_Intron|RP1-127D3.4_ENST00000445290.1_RNA|RP1-127D3.4_ENST00000445909.1_RNA|RP1-127D3.4_ENST00000422841.1_RNA|FMO2_ENST00000441535.1_Missense_Mutation_p.A208T			P31512	FMO4_HUMAN	flavin containing monooxygenase 2 (non-functional)	208					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TAAGAATGCTGCTCAGGTGTG	0.502																																					p.A208T		.											.	FMO2-91	0			c.G622A						.						133.0	138.0	136.0					1																	171168622		2203	4300	6503	SO:0001583	missense	2327	exon5			AATGCTGCTCAGG	BC005894	CCDS1293.1	1q24.3	2011-08-04	2006-07-17		ENSG00000094963	ENSG00000094963			3770	protein-coding gene	gene with protein product		603955	"""flavin containing monooxygenase 2"""			1417778, 9804831	Standard	XR_426768		Approved		uc001ghk.1	Q99518	OTTHUMG00000035504	ENST00000209929.7:c.622G>A	1.37:g.171168622G>A	ENSP00000209929:p.Ala208Thr	196	1		241	108	NM_001460	0	0	0	0	0	Q53XR0	Missense_Mutation	SNP	ENST00000209929.7	37	CCDS1293.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.244890	0.59103	.	.	ENSG00000094963	ENST00000209929;ENST00000441535	T;T	0.61158	0.13;0.13	6.17	4.29	0.51040	.	0.391884	0.30320	N	0.009889	T	0.29882	0.0747	L	0.46741	1.465	0.27353	N	0.956188	B	0.18461	0.028	B	0.25759	0.063	T	0.18241	-1.0343	10	0.33940	T	0.23	-7.3182	9.5994	0.39593	0.0737:0.0:0.7838:0.1425	.	208	Q99518	FMO2_HUMAN	T	208	ENSP00000209929:A208T;ENSP00000405905:A208T	ENSP00000209929:A208T	A	+	1	0	FMO2	169435246	0.000000	0.05858	1.000000	0.80357	0.984000	0.73092	0.372000	0.20467	0.908000	0.36671	0.655000	0.94253	GCT	.		0.502	FMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086216.2	NM_001460	
ANKRD45	339416	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	173616087	173616087	+	Missense_Mutation	SNP	G	G	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:173616087G>C	ENST00000333279.2	-	3	454	c.394C>G	c.(394-396)Ctg>Gtg	p.L132V		NM_198493.2	NP_940895.1	Q5TZF3	ANR45_HUMAN	ankyrin repeat domain 45	148										NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1)	12						TCAACATCCAGTTCTACCAGT	0.453																																					p.L132V		.											.	ANKRD45-90	0			c.C394G						.						138.0	134.0	135.0					1																	173616087		2203	4300	6503	SO:0001583	missense	339416	exon3			CATCCAGTTCTAC		CCDS1309.1	1q25.1	2013-01-10			ENSG00000183831	ENSG00000183831		"""Ankyrin repeat domain containing"""	24786	protein-coding gene	gene with protein product	"""cancer/testis antigen 117"""						Standard	NM_198493		Approved	FLJ45235, CT117	uc001gja.1	Q5TZF3	OTTHUMG00000040546	ENST00000333279.2:c.394C>G	1.37:g.173616087G>C	ENSP00000331268:p.Leu132Val	114	1		139	56	NM_198493	0	0	0	0	0	A1A4G2|Q6ZST1	Missense_Mutation	SNP	ENST00000333279.2	37	CCDS1309.1	.	.	.	.	.	.	.	.	.	.	G	14.40	2.524805	0.44969	.	.	ENSG00000183831	ENST00000333279	T	0.64803	-0.12	5.43	-0.926	0.10455	Ankyrin repeat-containing domain (4);	0.182576	0.35207	N	0.003366	T	0.38719	0.1051	L	0.42245	1.32	0.20821	N	0.999848	D	0.53312	0.959	P	0.52343	0.696	T	0.50808	-0.8784	10	0.16896	T	0.51	-3.1534	9.4304	0.38606	0.2193:0.0:0.6573:0.1234	.	148	Q5TZF3	ANR45_HUMAN	V	132	ENSP00000331268:L132V	ENSP00000331268:L132V	L	-	1	2	ANKRD45	171882710	0.290000	0.24343	0.277000	0.24703	0.921000	0.55340	0.448000	0.21726	-0.052000	0.13311	0.557000	0.71058	CTG	.		0.453	ANKRD45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097580.2	NM_198493	
TOR3A	64222	hgsc.bcm.edu	37	1	179051300	179051300	+	Missense_Mutation	SNP	T	T	C	rs2296377	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:179051300T>C	ENST00000367627.3	+	1	789	c.37T>C	c.(37-39)Ttc>Ctc	p.F13L	TOR3A_ENST00000352445.6_Missense_Mutation_p.F13L	NM_022371.3	NP_071766.2	Q9H497	TOR3A_HUMAN	torsin family 3, member A	13			F -> L (in dbSNP:rs2296377). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.3}.		ATP catabolic process (GO:0006200)|chaperone mediated protein folding requiring cofactor (GO:0051085)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|urinary_tract(1)	13						TTGGCTCTTTTTCCTGCTGCT	0.751													C|||	3842	0.767173	0.9879	0.6441	5008	,	,		12722	0.6677		0.7117	False		,,,				2504	0.7157				p.F13L		.											.	TOR3A-90	0			c.T37C						.	C	LEU/PHE	3262,174		1547,168,3	2.0	3.0	3.0		37	-0.8	0.0	1	dbSNP_100	3	5365,1739		2051,1263,238	yes	missense	TOR3A	NM_022371.3	22	3598,1431,241	CC,CT,TT		24.4792,5.064,18.1499	benign	13/398	179051300	8627,1913	1718	3552	5270	SO:0001583	missense	64222	exon1			CTCTTTTTCCTGC	BC001085	CCDS1329.1	1q25.2	2008-02-05	2003-04-02		ENSG00000186283	ENSG00000186283			11997	protein-coding gene	gene with protein product		607555	"""ATP-dependant interferon responsive"""	ADIR		10644435	Standard	NM_022371		Approved	FLJ22345, ADIR2	uc001gmd.3	Q9H497	OTTHUMG00000035077	ENST00000367627.3:c.37T>C	1.37:g.179051300T>C	ENSP00000356599:p.Phe13Leu	0	0		8	8	NM_022371	0	0	0	2	2	B4DSY0|B7ZB65|Q5M7Y7|Q8WVA7|Q8WWM2|Q9H495|Q9H6E7	Missense_Mutation	SNP	ENST00000367627.3	37	CCDS1329.1	1679	0.7687728937728938	484	0.983739837398374	250	0.6906077348066298	393	0.6870629370629371	552	0.7282321899736148	C	0.033	-1.323382	0.01309	0.94936	0.755208	ENSG00000186283	ENST00000367627;ENST00000367625;ENST00000352445	T;T;T	0.35421	1.31;1.4;1.63	0.427	-0.794	0.10918	.	1.274350	0.05916	N	0.632520	T	0.00012	0.0000	N	0.00368	-1.59	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.45906	-0.9229	8	0.02654	T	1	-1.1524	.	.	.	rs2296377;rs17844883;rs17856371;rs17857600;rs17857917;rs17858479;rs59034332;rs2296377	13	Q9H497	TOR3A_HUMAN	L	13	ENSP00000356599:F13L;ENSP00000356597:F13L;ENSP00000335351:F13L	ENSP00000335351:F13L	F	+	1	0	TOR3A	177317923	0.000000	0.05858	0.002000	0.10522	0.004000	0.04260	-1.490000	0.02304	-1.608000	0.01587	-1.610000	0.00802	TTC	T|0.229;C|0.771		0.751	TOR3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084927.1	NM_022371	
ACBD6	84320	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	180471390	180471390	+	Silent	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:180471390T>C	ENST00000367595.3	-	1	699	c.12A>G	c.(10-12)tcA>tcG	p.S4S		NM_032360.3	NP_115736.1	Q9BR61	ACBD6_HUMAN	acyl-CoA binding domain containing 6	4						cytoplasm (GO:0005737)	fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289)		ACBD6/RRP15(2)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	7						CGGGCAGGAATGATGAAGCCA	0.652																																					p.S4S		.											.	ACBD6-91	0			c.A12G						.						29.0	32.0	31.0					1																	180471390		2203	4300	6503	SO:0001819	synonymous_variant	84320	exon1			CAGGAATGATGAA	BC006505	CCDS1339.1	1q25.1	2013-10-11	2010-04-30		ENSG00000135847			"""Ankyrin repeat domain containing"""	23339	protein-coding gene	gene with protein product			"""acyl-Coenzyme A binding domain containing 6"""			18268358	Standard	NM_032360		Approved	MGC2404	uc001gog.3	Q9BR61	OTTHUMG00000035117	ENST00000367595.3:c.12A>G	1.37:g.180471390T>C		243	1		274	132	NM_032360	0	0	29	54	25		Silent	SNP	ENST00000367595.3	37	CCDS1339.1																																																																																			.		0.652	ACBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084998.1	NM_032360	
KIAA1614	57710	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	180904988	180904988	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:180904988G>A	ENST00000367588.4	+	5	1998	c.1943G>A	c.(1942-1944)cGa>cAa	p.R648Q	KIAA1614_ENST00000367587.1_Missense_Mutation_p.R269Q	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	648										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						CCGCGACTGCGACTGCGGGGC	0.672																																					p.R648Q		.											.	KIAA1614-26	0			c.G1943A						.						21.0	26.0	25.0					1																	180904988		2046	4186	6232	SO:0001583	missense	57710	exon5			GACTGCGACTGCG	AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.1943G>A	1.37:g.180904988G>A	ENSP00000356560:p.Arg648Gln	56	0		158	70	NM_020950	0	0	2	2	0	Q5VZ45|Q9HCF8	Missense_Mutation	SNP	ENST00000367588.4	37	CCDS41442.1	.	.	.	.	.	.	.	.	.	.	g	12.03	1.815301	0.32053	.	.	ENSG00000135835	ENST00000367588;ENST00000367587	T;T	0.25085	2.38;1.82	3.64	1.66	0.24008	.	1.568880	0.04859	N	0.443849	T	0.17959	0.0431	L	0.27053	0.805	0.25951	N	0.982746	B	0.24576	0.106	B	0.06405	0.002	T	0.25047	-1.0143	9	0.25751	T	0.34	.	7.8597	0.29504	0.3018:0.0:0.6982:0.0	.	648	Q5VZ46	K1614_HUMAN	Q	648;269	ENSP00000356560:R648Q;ENSP00000356559:R269Q	ENSP00000356559:R269Q	R	+	2	0	KIAA1614	179171611	0.001000	0.12720	0.000000	0.03702	0.073000	0.16967	0.977000	0.29475	0.660000	0.30964	0.556000	0.70494	CGA	.		0.672	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085151.1	XM_046531	
CACNA1E	777	broad.mit.edu;bcgsc.ca	37	1	181702837	181702837	+	Silent	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:181702837C>T	ENST00000367573.2	+	21	3213	c.3213C>T	c.(3211-3213)acC>acT	p.T1071T	CACNA1E_ENST00000367570.1_Silent_p.T1071T|CACNA1E_ENST00000358338.5_Silent_p.T1003T|CACNA1E_ENST00000526775.1_Silent_p.T1052T|CACNA1E_ENST00000360108.3_Silent_p.T1052T|CACNA1E_ENST00000357570.5_Silent_p.T1022T|CACNA1E_ENST00000367567.4_Silent_p.T678T	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1071					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						CCAGCGTCACCGTCGCCATCC	0.637																																					p.T1071T		.											.	CACNA1E-95	0			c.C3213T						.						42.0	48.0	46.0					1																	181702837		2190	4270	6460	SO:0001819	synonymous_variant	777	exon21			CGTCACCGTCGCC	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.3213C>T	1.37:g.181702837C>T		400	0		534	24	NM_000721	0	0	0	0	0	B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP	ENST00000367573.2	37	CCDS55664.1																																																																																			.		0.637	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721	
CACNA1E	777	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	181762806	181762806	+	Silent	SNP	A	A	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:181762806A>C	ENST00000367573.2	+	45	5904	c.5904A>C	c.(5902-5904)ccA>ccC	p.P1968P	CACNA1E_ENST00000367570.1_Intron|CACNA1E_ENST00000358338.5_Intron|CACNA1E_ENST00000526775.1_Intron|CACNA1E_ENST00000360108.3_Silent_p.P1949P|CACNA1E_ENST00000357570.5_Silent_p.P1919P|CACNA1E_ENST00000367567.4_Intron	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1968					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						TCCAGGAGCCAGAGGTTAGTG	0.507																																					p.P1968P		.											.	CACNA1E-95	0			c.A5904C						.						27.0	24.0	25.0					1																	181762806		876	1991	2867	SO:0001819	synonymous_variant	777	exon45			GGAGCCAGAGGTT	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.5904A>C	1.37:g.181762806A>C		120	0		150	55	NM_001205293	0	0	0	0	0	B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP	ENST00000367573.2	37	CCDS55664.1																																																																																			.		0.507	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721	
ZNF648	127665	hgsc.bcm.edu	37	1	182026352	182026352	+	Missense_Mutation	SNP	G	G	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:182026352G>C	ENST00000339948.3	-	2	1001	c.794C>G	c.(793-795)cCg>cGg	p.P265R		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	265					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(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						GGGGCTCAGCGGCTTGCTGGG	0.726																																					p.P265R	NSCLC(71;908 1374 5429 20458 35642)	.											.	ZNF648-91	0			c.C794G						.						5.0	7.0	6.0					1																	182026352		2116	4066	6182	SO:0001583	missense	127665	exon2			CTCAGCGGCTTGC	AK128654	CCDS30952.1	1q25.3	2013-01-08			ENSG00000179930	ENSG00000179930		"""Zinc fingers, C2H2-type"""	18190	protein-coding gene	gene with protein product							Standard	NM_001009992		Approved	FLJ46813	uc001goz.3	Q5T619	OTTHUMG00000037302	ENST00000339948.3:c.794C>G	1.37:g.182026352G>C	ENSP00000344129:p.Pro265Arg	0	0		17	9	NM_001009992	0	0	0	0	0	B2RP16	Missense_Mutation	SNP	ENST00000339948.3	37	CCDS30952.1	.	.	.	.	.	.	.	.	.	.	G	3.990	-0.004710	0.07773	.	.	ENSG00000179930	ENST00000339948	T	0.14022	2.54	2.56	-5.12	0.02893	.	.	.	.	.	T	0.05960	0.0155	N	0.12961	0.28	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.34403	-0.9830	9	0.62326	D	0.03	.	1.9763	0.03416	0.4728:0.2573:0.1408:0.129	.	265	Q5T619	ZN648_HUMAN	R	265	ENSP00000344129:P265R	ENSP00000344129:P265R	P	-	2	0	ZNF648	180292975	0.027000	0.19231	0.000000	0.03702	0.002000	0.02628	1.240000	0.32731	-1.852000	0.01166	-0.122000	0.15005	CCG	.		0.726	ZNF648-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090794.1	XM_060597	
ZNF648	127665	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	182026897	182026897	+	Missense_Mutation	SNP	G	G	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:182026897G>C	ENST00000339948.3	-	2	456	c.249C>G	c.(247-249)gaC>gaG	p.D83E		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	83					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(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						CACTGGAGGAGTCAGAGAATT	0.562																																					p.D83E	NSCLC(71;908 1374 5429 20458 35642)	.											.	ZNF648-91	0			c.C249G						.						81.0	83.0	83.0					1																	182026897		2203	4300	6503	SO:0001583	missense	127665	exon2			GGAGGAGTCAGAG	AK128654	CCDS30952.1	1q25.3	2013-01-08			ENSG00000179930	ENSG00000179930		"""Zinc fingers, C2H2-type"""	18190	protein-coding gene	gene with protein product							Standard	NM_001009992		Approved	FLJ46813	uc001goz.3	Q5T619	OTTHUMG00000037302	ENST00000339948.3:c.249C>G	1.37:g.182026897G>C	ENSP00000344129:p.Asp83Glu	117	0		148	77	NM_001009992	0	0	0	0	0	B2RP16	Missense_Mutation	SNP	ENST00000339948.3	37	CCDS30952.1	.	.	.	.	.	.	.	.	.	.	G	5.906	0.351337	0.11182	.	.	ENSG00000179930	ENST00000339948	T	0.07327	3.2	2.61	1.64	0.23874	.	.	.	.	.	T	0.03305	0.0096	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.44847	-0.9301	9	0.05351	T	0.99	.	7.0774	0.25211	0.0:0.3033:0.6967:0.0	.	83	Q5T619	ZN648_HUMAN	E	83	ENSP00000344129:D83E	ENSP00000344129:D83E	D	-	3	2	ZNF648	180293520	0.001000	0.12720	0.002000	0.10522	0.005000	0.04900	0.666000	0.25097	0.620000	0.30215	0.655000	0.94253	GAC	.		0.562	ZNF648-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090794.1	XM_060597	
PLA2G4A	5321	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	186908147	186908147	+	Missense_Mutation	SNP	T	T	C	rs201251994		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:186908147T>C	ENST00000367466.3	+	9	855	c.703T>C	c.(703-705)Tca>Cca	p.S235P	PLA2G4A_ENST00000466600.1_3'UTR|PLA2G4A_ENST00000442353.2_Missense_Mutation_p.S175P	NM_024420.2	NP_077734	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	235	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				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)	TAGGTATATGTCAACCTTGTA	0.368																																					p.S235P		.											.	PLA2G4A-721	0			c.T703C						.						179.0	171.0	174.0					1																	186908147		2203	4300	6503	SO:0001583	missense	5321	exon9			TATATGTCAACCT	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.703T>C	1.37:g.186908147T>C	ENSP00000356436:p.Ser235Pro	70	0		61	29	NM_024420	0	0	0	0	0	B1AKG4|Q29R80	Missense_Mutation	SNP	ENST00000367466.3	37	CCDS1372.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.802194	0.90538	.	.	ENSG00000116711	ENST00000367466;ENST00000442353	T;T	0.05925	3.37;3.37	5.93	5.93	0.95920	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (3);	0.000000	0.85682	D	0.000000	T	0.29783	0.0744	M	0.85197	2.74	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.03728	-1.1009	10	0.66056	D	0.02	-16.3786	15.5682	0.76309	0.0:0.0:0.0:1.0	.	175;235	E7EU42;P47712	.;PA24A_HUMAN	P	235;175	ENSP00000356436:S235P;ENSP00000406892:S175P	ENSP00000356436:S235P	S	+	1	0	PLA2G4A	185174770	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.930000	0.87610	2.265000	0.75225	0.533000	0.62120	TCA	T|0.999;A|0.001		0.368	PLA2G4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086236.1	NM_024420	
B3GALT2	8707	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	193149518	193149518	+	Missense_Mutation	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:193149518T>C	ENST00000367434.4	-	2	1930	c.1175A>G	c.(1174-1176)aAa>aGa	p.K392R	CDC73_ENST00000367435.3_Intron	NM_003783.3	NP_003774.1	O43825	B3GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2	392					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	16						GTTCCAGTATTTTATCAGTTC	0.423																																					p.K392R		.											.	B3GALT2-91	0			c.A1175G						.						128.0	124.0	125.0					1																	193149518		2203	4300	6503	SO:0001583	missense	8707	exon2			CAGTATTTTATCA	Y15060	CCDS1383.1	1q31	2013-02-19			ENSG00000162630	ENSG00000162630		"""Beta 3-glycosyltransferases"""	917	protein-coding gene	gene with protein product		603018				9582303, 9417100	Standard	NM_003783		Approved	beta3Gal-T2	uc001gtc.4	O43825	OTTHUMG00000035687	ENST00000367434.4:c.1175A>G	1.37:g.193149518T>C	ENSP00000356404:p.Lys392Arg	139	0		140	65	NM_003783	0	0	0	0	0	B2RAB1|Q9BZQ9	Missense_Mutation	SNP	ENST00000367434.4	37	CCDS1383.1	.	.	.	.	.	.	.	.	.	.	T	11.07	1.530566	0.27387	.	.	ENSG00000162630	ENST00000367434	T	0.39406	1.08	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.31575	0.0801	L	0.33485	1.01	0.53688	D	0.999978	B	0.29988	0.264	B	0.26864	0.074	T	0.08848	-1.0702	10	0.16420	T	0.52	.	15.2201	0.73306	0.0:0.0:0.0:1.0	.	392	O43825	B3GT2_HUMAN	R	392	ENSP00000356404:K392R	ENSP00000356404:K392R	K	-	2	0	B3GALT2	191416141	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.163000	0.64948	1.991000	0.58162	0.454000	0.30748	AAA	.		0.423	B3GALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086759.1	NM_003783	
ASPM	259266	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	197073232	197073232	+	Frame_Shift_Del	DEL	T	T	-	rs199422167		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:197073232delT	ENST00000367409.4	-	18	5405	c.5149delA	c.(5149-5151)atafs	p.I1717fs	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1717					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.I1717fs*1(2)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TGTGCAGCTATTTTTTTGGAA	0.373																																					p.I1717X		.											.	ASPM-615	2	Deletion - Frameshift(2)	ovary(1)|large_intestine(1)	c.5149delA	GRCh37	CD077387	ASPM	D		.						107.0	107.0	107.0					1																	197073232		2203	4298	6501	SO:0001589	frameshift_variant	259266	exon18			CAGCTATTTTTTT	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.5149delA	1.37:g.197073232delT	ENSP00000356379:p.Ile1717fs	40	0		54	20	NM_018136	0	0	0	0	0	Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Nonsense_Mutation	DEL	ENST00000367409.4	37	CCDS1389.1																																																																																			.		0.373	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136	
CAMSAP2	23271	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	200827020	200827020	+	Frame_Shift_Del	DEL	A	A	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:200827020delA	ENST00000236925.4	+	18	4352	c.4303delA	c.(4303-4305)aaafs	p.K1436fs	CAMSAP2_ENST00000413307.2_Frame_Shift_Del_p.K1409fs|CAMSAP2_ENST00000358823.2_Frame_Shift_Del_p.K1425fs			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	1436	CKK. {ECO:0000255|PROSITE- ProRule:PRU00841}.				microtubule cytoskeleton organization (GO:0000226)|regulation of organelle organization (GO:0033043)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)	microtubule minus-end binding (GO:0051011)										ATCTATCACTAAAAAAATGAT	0.373																																					p.K1424fs		.											.	.	0			c.4270delA						.						67.0	72.0	70.0					1																	200827020		2203	4300	6503	SO:0001589	frameshift_variant	23271	exon17			ATCACTAAAAAAA	AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200			29188	protein-coding gene	gene with protein product		613775	"""calmodulin regulated spectrin-associated protein 1-like 1"""	CAMSAP1L1		15897902, 19508979	Standard	XM_005245040		Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000236925.4:c.4303delA	1.37:g.200827020delA	ENSP00000236925:p.Lys1436fs	86	0		88	36	NM_203459	0	0	0	0	0	B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Frame_Shift_Del	DEL	ENST00000236925.4	37																																																																																				.		0.373	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086956.2	NM_203459	
KIF21B	23046	broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	200974545	200974545	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:200974545G>A	ENST00000422435.2	-	5	939	c.623C>T	c.(622-624)gCc>gTc	p.A208V	KIF21B_ENST00000332129.2_Missense_Mutation_p.A208V|KIF21B_ENST00000461742.2_Missense_Mutation_p.A208V|KIF21B_ENST00000360529.5_Missense_Mutation_p.A208V	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	208	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GCGGGACAGGGCCCCCTGCTT	0.627																																					p.A208V		.											.	KIF21B-96	0			c.C623T						.						103.0	94.0	97.0					1																	200974545		2203	4300	6503	SO:0001583	missense	23046	exon5			GACAGGGCCCCCT	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.623C>T	1.37:g.200974545G>A	ENSP00000411831:p.Ala208Val	117	2		155	73	NM_017596	0	0	2	2	0	B2RP62|B7ZMI0|Q5T4J3	Missense_Mutation	SNP	ENST00000422435.2	37	CCDS58056.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.454721	0.84209	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94	5.25	5.25	0.73442	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	T	0.81384	0.4811	L	0.33293	1	0.80722	D	1	B;B;D;B	0.76494	0.114;0.114;0.999;0.094	B;B;D;B	0.83275	0.11;0.11;0.996;0.067	D	0.83626	0.0142	10	0.87932	D	0	.	18.8465	0.92209	0.0:0.0:1.0:0.0	.	208;208;208;208	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	V	208	ENSP00000328494:A208V;ENSP00000353724:A208V;ENSP00000433808:A208V;ENSP00000411831:A208V	ENSP00000328494:A208V	A	-	2	0	KIF21B	199241168	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.409000	0.66374	2.446000	0.82766	0.655000	0.94253	GCC	.		0.627	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332	
FMOD	2331	broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	203317354	203317354	+	Silent	SNP	G	G	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:203317354G>C	ENST00000354955.4	-	2	508	c.45C>G	c.(43-45)ctC>ctG	p.L15L	FMOD_ENST00000493296.1_Intron	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	15					carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor complex assembly (GO:0007181)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			GGGCCTGGGAGAGGGAGAAGA	0.562																																					p.L15L		.											.	FMOD-137	0			c.C45G						.						58.0	60.0	59.0					1																	203317354		2203	4300	6503	SO:0001819	synonymous_variant	2331	exon2			CTGGGAGAGGGAG	U05291	CCDS30976.1	1q32	2008-02-05			ENSG00000122176	ENSG00000122176		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	3774	protein-coding gene	gene with protein product	"""fibromodulin proteoglycan"""	600245				7851907	Standard	NM_002023		Approved	SLRR2E	uc001gzr.3	Q06828	OTTHUMG00000035910	ENST00000354955.4:c.45C>G	1.37:g.203317354G>C		142	1		200	90	NM_002023	0	0	0	0	0	Q15331|Q8IV47	Silent	SNP	ENST00000354955.4	37	CCDS30976.1																																																																																			.		0.562	FMOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087472.1	NM_002023	
SNRPE	6635	hgsc.bcm.edu;bcgsc.ca	37	1	203832839	203832839	+	Frame_Shift_Del	DEL	G	G	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:203832839delG	ENST00000414487.2	+	3	175	c.130delG	c.(130-132)gaafs	p.E44fs	SNRPE_ENST00000483099.1_3'UTR|SNRPE_ENST00000367208.1_Frame_Shift_Del_p.E4fs	NM_003094.2	NP_003085.1	P62304	RUXE_HUMAN	small nuclear ribonucleoprotein polypeptide E	44					gene expression (GO:0010467)|hair cycle (GO:0042633)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|methylosome (GO:0034709)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pICln-Sm protein complex (GO:0034715)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U12-type spliceosomal complex (GO:0005689)|U4 snRNP (GO:0005687)|U7 snRNP (GO:0005683)	RNA binding (GO:0003723)			breast(1)|large_intestine(2)|lung(1)|skin(1)	5	all_cancers(21;0.103)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TATGCGGATAGAAGGCTGTAT	0.408																																					p.E44fs	Ovarian(83;324 1318 17952 32395 39614)	.											.	SNRPE-514	0			c.130delG						.						129.0	129.0	129.0					1																	203832839		2203	4300	6503	SO:0001589	frameshift_variant	6635	exon3			CGGATAGAAGGCT	M37716	CCDS30979.1	1q32	2011-10-11			ENSG00000182004	ENSG00000182004			11161	protein-coding gene	gene with protein product		128260				1835977, 2143747	Standard	NM_003094		Approved	Sm-E	uc001hai.3	P62304	OTTHUMG00000035985	ENST00000414487.2:c.130delG	1.37:g.203832839delG	ENSP00000400591:p.Glu44fs	316	0		321	0	NM_003094	0	0	0	0	0	B2R5B9|P08578|Q15498|Q5BKT2	Frame_Shift_Del	DEL	ENST00000414487.2	37	CCDS30979.1																																																																																			.		0.408	SNRPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087703.1	NM_003094	
LEMD1	93273	ucsc.edu;bcgsc.ca;mdanderson.org	37	1	205417469	205417469	+	Intron	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:205417469A>G	ENST00000367154.1	-	1	64				MIR135B_ENST00000362189.1_RNA			Q68G75	LEMD1_HUMAN	LEM domain containing 1							integral component of membrane (GO:0016021)				breast(1)|lung(2)	3	Breast(84;0.247)		BRCA - Breast invasive adenocarcinoma(75;0.0938)			TTTTAGCCCTACATGAGTTTG	0.587																																					.		.											.	.	0			.						.						125.0	115.0	118.0					1																	205417469		1568	3582	5150	SO:0001627	intron_variant	442891	.			AGCCCTACATGAG		CCDS30986.1, CCDS55677.1, CCDS55678.1, CCDS55679.1	1q32.1	2009-03-25			ENSG00000186007	ENSG00000186007			18725	protein-coding gene	gene with protein product	"""cancer/testis antigen 50"""	610480				15254688	Standard	NM_001199050		Approved	LEMP-1, CT50	uc001hcj.2	Q68G75	OTTHUMG00000037201	ENST00000367154.1:c.37+1526T>C	1.37:g.205417469A>G		79	0		111	42	.	0	0	0	0	0	Q6L9T9|Q6L9U0|Q6L9U1|Q6L9U2|Q6L9U3|Q6L9U4	RNA	SNP	ENST00000367154.1	37	CCDS30986.1																																																																																			.		0.587	LEMD1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090402.1	NM_001001552	
EIF2D	1939	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	206769135	206769135	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:206769135G>A	ENST00000271764.2	-	13	1649	c.1441C>T	c.(1441-1443)Ccc>Tcc	p.P481S	EIF2D_ENST00000367114.3_Missense_Mutation_p.P357S|EIF2D_ENST00000472709.2_5'UTR	NM_006893.2	NP_008824.2	P41214	EIF2D_HUMAN	eukaryotic translation initiation factor 2D	481					formation of translation preinitiation complex (GO:0001731)|intracellular protein transport (GO:0006886)|IRES-dependent translational initiation (GO:0002192)|ribosome disassembly (GO:0032790)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	receptor activity (GO:0004872)|translation initiation factor activity (GO:0003743)			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						TTCACAATGGGCTCTTGTCCG	0.403																																					p.P481S		.											.	EIF2D-92	0			c.C1441T						.						171.0	162.0	165.0					1																	206769135		2203	4300	6503	SO:0001583	missense	1939	exon13			CAATGGGCTCTTG	BC001585	CCDS1465.1, CCDS55680.1	1q32.1	2014-05-06	2011-01-19	2011-01-19	ENSG00000143486	ENSG00000143486			6583	protein-coding gene	gene with protein product		613709				20566627	Standard	NM_001201478		Approved	LGTN	uc001heh.2	P41214	OTTHUMG00000184619	ENST00000271764.2:c.1441C>T	1.37:g.206769135G>A	ENSP00000271764:p.Pro481Ser	100	1		135	66	NM_006893	0	0	33	60	27	Q5SY40|Q8IXV3|Q96DG3|Q96TG7|Q9NR27|Q9NSN0|Q9NV18|Q9NZ21	Missense_Mutation	SNP	ENST00000271764.2	37	CCDS1465.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.959380	0.92726	.	.	ENSG00000143486	ENST00000367114;ENST00000271764	T;T	0.28069	1.63;1.63	5.82	5.82	0.92795	Translation initiation factor SUI1 (1);	0.000000	0.85682	D	0.000000	T	0.48874	0.1524	L	0.52573	1.65	0.80722	D	1	D;P	0.89917	1.0;0.79	D;B	0.87578	0.998;0.271	T	0.18398	-1.0338	10	0.10111	T	0.7	-16.1419	19.0895	0.93221	0.0:0.0:1.0:0.0	.	357;481	P41214-2;P41214	.;EIF2D_HUMAN	S	357;481	ENSP00000356081:P357S;ENSP00000271764:P481S	ENSP00000271764:P481S	P	-	1	0	EIF2D	204835758	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.383000	0.79741	2.748000	0.94277	0.655000	0.94253	CCC	.		0.403	EIF2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088475.1	NM_006893	
RCOR3	55758	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	211462519	211462519	+	Splice_Site	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:211462519G>A	ENST00000367005.4	+	7	687		c.e7-1		RCOR3_ENST00000367006.4_Splice_Site|RCOR3_ENST00000419091.2_Splice_Site|RCOR3_ENST00000452621.2_Splice_Site	NM_018254.3	NP_060724.1	Q9P2K3	RCOR3_HUMAN	REST corepressor 3						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		TATTCTCTTAGGGTAATACTG	0.368																																					.		.											.	RCOR3-91	0			c.721-1G>A						.						91.0	86.0	88.0					1																	211462519		2203	4300	6503	SO:0001630	splice_region_variant	55758	exon8			CTCTTAGGGTAAT	AK001738	CCDS31016.1, CCDS44312.1, CCDS44313.1, CCDS44314.1	1q32.3	2008-02-05			ENSG00000117625	ENSG00000117625			25594	protein-coding gene	gene with protein product						10718198	Standard	NM_018254		Approved	FLJ10876	uc010psw.2	Q9P2K3	OTTHUMG00000036996	ENST00000367005.4:c.547-1G>A	1.37:g.211462519G>A		191	0		204	81	NM_001136224	0	0	0	0	0	B3KYA2|B4DYY7|Q5VT47|Q7L9I5|Q8N5U3|Q9NV83	Splice_Site	SNP	ENST00000367005.4	37	CCDS31016.1	.	.	.	.	.	.	.	.	.	.	G	16.57	3.159268	0.57368	.	.	ENSG00000117625	ENST00000367006;ENST00000452621;ENST00000419091;ENST00000367005;ENST00000534460	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4881	0.67631	0.0:0.0:0.853:0.147	.	.	.	.	.	-1	.	.	.	+	.	.	RCOR3	209529142	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	8.902000	0.92568	2.639000	0.89480	0.655000	0.94253	.	.		0.368	RCOR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089821.1	NM_018254	Intron
VASH2	79805	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	213125126	213125126	+	Missense_Mutation	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:213125126T>C	ENST00000517399.1	+	1	242	c.242T>C	c.(241-243)gTg>gCg	p.V81A	VASH2_ENST00000366968.4_Missense_Mutation_p.V16A|VASH2_ENST00000366967.2_Intron|VASH2_ENST00000366966.2_Missense_Mutation_p.V16A|VASH2_ENST00000366965.2_Missense_Mutation_p.V81A|VASH2_ENST00000271776.4_Intron|VASH2_ENST00000366964.3_5'UTR			Q86V25	VASH2_HUMAN	vasohibin 2	81					positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)	cytoplasm (GO:0005737)				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(81;0.00479)|all cancers(67;0.00844)|GBM - Glioblastoma multiforme(131;0.0496)|Epithelial(68;0.0986)		GGAGAAATGGTGGGCGCCATC	0.632																																					p.V81A		.											.	VASH2-90	0			c.T242C						.						34.0	30.0	31.0					1																	213125126		2203	4300	6503	SO:0001583	missense	79805	exon2			AAATGGTGGGCGC	AK022567	CCDS1511.1, CCDS44315.1, CCDS44316.1, CCDS73026.1	1q23	2008-02-05			ENSG00000143494	ENSG00000143494			25723	protein-coding gene	gene with protein product		610471				16528006	Standard	XR_247041		Approved	FLJ12505	uc001hjw.3	Q86V25	OTTHUMG00000036925	ENST00000517399.1:c.242T>C	1.37:g.213125126T>C	ENSP00000428324:p.Val81Ala	66	0		65	30	NM_024749	0	0	0	0	0	B4DYZ5|Q2VT46|Q5VTE7|Q5VTE9|Q7Z6E3|Q8IZ24|Q9H9W5	Missense_Mutation	SNP	ENST00000517399.1	37	CCDS1511.1	.	.	.	.	.	.	.	.	.	.	T	11.92	1.782502	0.31502	.	.	ENSG00000143494	ENST00000366966;ENST00000366968;ENST00000490792;ENST00000366965;ENST00000517399	.	.	.	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.39682	0.1087	N	0.25789	0.76	0.80722	D	1	B;B;B	0.26975	0.037;0.008;0.165	B;B;B	0.26416	0.024;0.007;0.069	T	0.20840	-1.0263	9	0.11182	T	0.66	-14.4872	9.9939	0.41887	0.0:0.0833:0.0:0.9167	.	81;81;81	Q86V25;Q86V25-5;Q86V25-4	VASH2_HUMAN;.;.	A	16;16;16;81;81	.	ENSP00000355932:V81A	V	+	2	0	VASH2	211191749	1.000000	0.71417	1.000000	0.80357	0.776000	0.43924	4.295000	0.59049	1.914000	0.55421	0.460000	0.39030	GTG	.		0.632	VASH2-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381686.1	NM_024749	
RPS6KC1	26750	broad.mit.edu;bcgsc.ca	37	1	213277826	213277826	+	Missense_Mutation	SNP	G	G	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:213277826G>T	ENST00000366960.3	+	4	443	c.293G>T	c.(292-294)aGa>aTa	p.R98I	RPS6KC1_ENST00000366959.3_Missense_Mutation_p.R86I|RPS6KC1_ENST00000543470.1_5'UTR|RPS6KC1_ENST00000543354.1_5'UTR|RPS6KC1_ENST00000490299.1_3'UTR	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	98	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		ATCGAAGAGAGAAGACAATGT	0.368																																					p.R98I		.											.	RPS6KC1-417	0			c.G293T						.						184.0	175.0	178.0					1																	213277826		2203	4300	6503	SO:0001583	missense	26750	exon4			AAGAGAGAAGACA	AF037447	CCDS1513.1, CCDS44317.1, CCDS73028.1, CCDS73029.1, CCDS73030.1	1q41	2011-04-05	2002-08-29		ENSG00000136643	ENSG00000136643			10439	protein-coding gene	gene with protein product			"""ribosomal protein S6 kinase, 52kD, polypeptide 1"""			10552933	Standard	XM_005273095		Approved	humS6PKh1	uc010ptr.2	Q96S38	OTTHUMG00000036926	ENST00000366960.3:c.293G>T	1.37:g.213277826G>T	ENSP00000355927:p.Arg98Ile	99	2		89	42	NM_012424	0	0	8	10	2	B1APS8|B3KVM4|D3DTA4|Q8TDD3|Q9NSF4|Q9UL66	Missense_Mutation	SNP	ENST00000366960.3	37	CCDS1513.1	.	.	.	.	.	.	.	.	.	.	G	34	5.405690	0.96051	.	.	ENSG00000136643	ENST00000366960;ENST00000366959	T;T	0.64085	-0.08;-0.08	5.53	5.53	0.82687	Phox homologous domain (5);	0.000000	0.85682	D	0.000000	D	0.86682	0.5991	H	0.96489	3.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90318	0.4342	10	0.87932	D	0	-11.5908	19.8293	0.96628	0.0:0.0:1.0:0.0	.	98;86	Q96S38;B1APS8	KS6C1_HUMAN;.	I	98;86	ENSP00000355927:R98I;ENSP00000355926:R86I	ENSP00000355926:R86I	R	+	2	0	RPS6KC1	211344449	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.603000	0.98315	2.749000	0.94314	0.655000	0.94253	AGA	.		0.368	RPS6KC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089690.3	NM_012424	
KCTD3	51133	hgsc.bcm.edu	37	1	215741053	215741053	+	Missense_Mutation	SNP	T	T	G	rs2275768	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:215741053T>G	ENST00000259154.4	+	1	319	c.25T>G	c.(25-27)Ttc>Gtc	p.F9V		NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	9			F -> V (in dbSNP:rs2275768). {ECO:0000269|PubMed:15489334}.		protein homooligomerization (GO:0051260)					breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		CTGCGGCAGCTTCCCCGCGGC	0.761													T|||	1459	0.291334	0.0605	0.2291	5008	,	,		8959	0.4276		0.2853	False		,,,				2504	0.5133				p.F9V		.											.	KCTD3-93	0			c.T25G						.	T	VAL/PHE	232,2814		17,198,1308	3.0	5.0	5.0		25	1.6	0.8	1	dbSNP_100	5	1189,4951		136,917,2017	no	missense	KCTD3	NM_016121.3	50	153,1115,3325	GG,GT,TT		19.3648,7.6165,15.4692	benign	9/816	215741053	1421,7765	1523	3070	4593	SO:0001583	missense	51133	exon1			GGCAGCTTCCCCG	AK024547	CCDS1515.1	1q41	2013-06-20	2013-06-20		ENSG00000136636	ENSG00000136636			21305	protein-coding gene	gene with protein product		613272	"""potassium channel tetramerisation domain containing 3"""			10508479	Standard	NM_016121		Approved	NY-REN-45	uc001hks.3	Q9Y597	OTTHUMG00000037019	ENST00000259154.4:c.25T>G	1.37:g.215741053T>G	ENSP00000259154:p.Phe9Val	0	0		12	12	NM_016121	0	0	0	19	19	A0AV15|D3DTA6|Q49AG7|Q504Q9|Q6PJN6|Q8ND58|Q8NDJ0|Q8WX16	Missense_Mutation	SNP	ENST00000259154.4	37	CCDS1515.1	595	0.2724358974358974	34	0.06910569105691057	93	0.2569060773480663	249	0.4353146853146853	219	0.28891820580474936	T	10.24	1.294537	0.23564	0.076165	0.193648	ENSG00000136636	ENST00000259154;ENST00000366945	T	0.36520	1.25	2.8	1.63	0.23807	.	0.611401	0.14267	U	0.330439	T	0.00012	0.0000	L	0.27053	0.805	0.50813	P	1.0900000000002574E-4	B;B	0.12013	0.005;0.003	B;B	0.08055	0.003;0.001	T	0.48115	-0.9063	9	0.23891	T	0.37	-7.5445	6.7109	0.23276	0.0:0.2267:0.0:0.7733	rs2275768;rs17845401;rs17858259	9;9	Q9Y597-2;Q9Y597	.;KCTD3_HUMAN	V	9	ENSP00000259154:F9V	ENSP00000259154:F9V	F	+	1	0	KCTD3	213807676	0.045000	0.20229	0.833000	0.33012	0.447000	0.32167	0.628000	0.24522	0.293000	0.22520	0.254000	0.18369	TTC	T|0.721;G|0.279		0.761	KCTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089871.2	NM_016121	
USH2A	7399	broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	216246596	216246596	+	Silent	SNP	G	G	A	rs138416665		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:216246596G>A	ENST00000307340.3	-	28	6005	c.5619C>T	c.(5617-5619)gtC>gtT	p.V1873V	RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|USH2A_ENST00000366943.2_Silent_p.V1873V|RP11-22M7.2_ENST00000446411.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1873	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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)		CCAAGTTAACGACAGCACCCC	0.458										HNSCC(13;0.011)			G|||	1	0.000199681	0.0	0.0	5008	,	,		18340	0.0		0.001	False		,,,				2504	0.0				p.V1873V		.											.	USH2A-115	0			c.C5619T						.	G		0,4406		0,0,2203	79.0	65.0	70.0		5619	5.0	1.0	1	dbSNP_134	70	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	USH2A	NM_206933.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		1873/5203	216246596	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7399	exon28			GTTAACGACAGCA	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.5619C>T	1.37:g.216246596G>A		228	3		224	94	NM_206933	0	0	0	0	0	Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	CCDS31025.1																																																																																			G|1.000;A|0.000		0.458	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	
EPRS	2058	broad.mit.edu	37	1	220142206	220142206	+	Missense_Mutation	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:220142206T>C	ENST00000366923.3	-	32	4750	c.4481A>G	c.(4480-4482)aAa>aGa	p.K1494R	EPRS_ENST00000468487.1_5'UTR	NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	1494	Proline--tRNA ligase.				cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	ACAGACACATTTGGCTCCAGG	0.488																																					p.K1494R		.											.	EPRS-92	0			c.A4481G						.						107.0	102.0	104.0					1																	220142206		2203	4300	6503	SO:0001583	missense	2058	exon32			ACACATTTGGCTC	X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"", ""Aminoacyl tRNA synthetases / Class II"""	3418	protein-coding gene	gene with protein product	"""glutamate tRNA ligase"", ""proline tRNA ligase"""	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.4481A>G	1.37:g.220142206T>C	ENSP00000355890:p.Lys1494Arg	182	0		246	6	NM_004446	0	0	346	347	1	A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Missense_Mutation	SNP	ENST00000366923.3	37	CCDS31027.1	.	.	.	.	.	.	.	.	.	.	T	13.56	2.274673	0.40194	.	.	ENSG00000136628	ENST00000366923	T	0.08370	3.1	5.66	-4.01	0.04045	Prolyl-tRNA synthetase, class II, C-terminal (3);Prolyl-tRNA synthetase, class II (1);	0.457587	0.26879	N	0.022040	T	0.08268	0.0206	M	0.79343	2.45	0.09310	N	0.999999	B	0.06786	0.001	B	0.12837	0.008	T	0.24476	-1.0159	10	0.45353	T	0.12	-5.2395	3.3576	0.07174	0.1015:0.3098:0.0995:0.4892	.	1494	P07814	SYEP_HUMAN	R	1494	ENSP00000355890:K1494R	ENSP00000355890:K1494R	K	-	2	0	EPRS	218208829	0.000000	0.05858	0.047000	0.18901	0.975000	0.68041	-0.989000	0.03736	-0.575000	0.05982	0.482000	0.46254	AAA	.		0.488	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091133.2	NM_004446	
TAF1A	9015	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	222737423	222737423	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:222737423G>A	ENST00000352967.4	-	8	1127	c.939C>T	c.(937-939)ttC>ttT	p.F313F	TAF1A_ENST00000391882.1_Silent_p.F199F|TAF1A_ENST00000350027.4_Silent_p.F313F|TAF1A_ENST00000366890.1_Silent_p.F199F	NM_005681.3	NP_005672.1	Q15573	TAF1A_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa	313					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)	intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RNA polymerase I transcription factor complex (GO:0000120)	DNA binding (GO:0003677)			kidney(3)|large_intestine(3)|lung(11)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(131;0.0186)		GTAATGTATGGAATTCCAACA	0.318																																					p.F313F		.											.	TAF1A-44	0			c.C939T						.						76.0	79.0	78.0					1																	222737423		2200	4299	6499	SO:0001819	synonymous_variant	9015	exon8			TGTATGGAATTCC	L39060	CCDS1531.1, CCDS1532.1	1q42	2008-02-05	2002-08-29		ENSG00000143498	ENSG00000143498			11532	protein-coding gene	gene with protein product		604903	"""TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kD"""			7801123	Standard	NM_005681		Approved	TAFI48, SL1	uc009xdz.2	Q15573	OTTHUMG00000037544	ENST00000352967.4:c.939C>T	1.37:g.222737423G>A		263	0		253	85	NM_005681	0	0	2	4	2	B2RDZ8|D3DTB7|Q9NWA1	Silent	SNP	ENST00000352967.4	37	CCDS1531.1																																																																																			.		0.318	TAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091493.2	NM_005681	
CCDC185	164127	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	223568189	223568189	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:223568189C>T	ENST00000366875.3	+	1	1475	c.1372C>T	c.(1372-1374)Cgg>Tgg	p.R458W		NM_152610.2	NP_689823.2	Q8N715	CC185_HUMAN		458										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		AAGTTTCCAGCGGTCCCAGGA	0.617																																					p.R458W		.											.	C1orf65-91	0			c.C1372T						.						39.0	41.0	40.0					1																	223568189		2203	4300	6503	SO:0001583	missense	164127	exon1			TTCCAGCGGTCCC																												ENST00000366875.3:c.1372C>T	1.37:g.223568189C>T	ENSP00000355840:p.Arg458Trp	193	0		268	110	NM_152610	0	0	0	0	0	Q8N746|Q8NA93	Missense_Mutation	SNP	ENST00000366875.3	37	CCDS1537.1	.	.	.	.	.	.	.	.	.	.	C	7.144	0.582342	0.13749	.	.	ENSG00000178395	ENST00000366875	T	0.26810	1.71	5.7	-4.94	0.03057	.	.	.	.	.	T	0.10852	0.0265	N	0.17474	0.49	0.09310	N	1	P	0.34684	0.463	B	0.26202	0.067	T	0.21861	-1.0233	9	0.42905	T	0.14	.	6.4616	0.21960	0.5681:0.2717:0.0875:0.0728	.	458	Q8N715	CA065_HUMAN	W	458	ENSP00000355840:R458W	ENSP00000355840:R458W	R	+	1	2	C1orf65	221634812	0.000000	0.05858	0.001000	0.08648	0.247000	0.25773	-0.552000	0.06020	-0.588000	0.05882	-1.448000	0.01049	CGG	.		0.617	C1orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092718.1		
CAPN2	824	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	223947169	223947169	+	Missense_Mutation	SNP	G	G	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:223947169G>C	ENST00000295006.5	+	12	1824	c.1515G>C	c.(1513-1515)aaG>aaC	p.K505N	CAPN2_ENST00000474026.1_3'UTR|CAPN2_ENST00000433674.2_Missense_Mutation_p.K427N	NM_001748.4	NP_001739	P17655	CAN2_HUMAN	calpain 2, (m/II) large subunit	505	Domain III.				blastocyst development (GO:0001824)|cellular response to amino acid stimulus (GO:0071230)|myoblast fusion (GO:0007520)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of cytoskeleton organization (GO:0051493)|response to hypoxia (GO:0001666)	chromatin (GO:0000785)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|cytoskeletal protein binding (GO:0008092)			breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		TTTCTGAAAAGAAAGCTGACT	0.562																																					p.K505N		.											.	CAPN2-523	0			c.G1515C						.						45.0	45.0	45.0					1																	223947169		2203	4300	6503	SO:0001583	missense	824	exon12			TGAAAAGAAAGCT	J04700	CCDS31035.1, CCDS53478.1	1q41-q42	2013-01-10			ENSG00000162909	ENSG00000162909	3.4.22.52	"""EF-hand domain containing"""	1479	protein-coding gene	gene with protein product		114230				2852952, 2539381	Standard	NM_001748		Approved	mCANP, CANPml, CANPL2	uc001hob.4	P17655	OTTHUMG00000037376	ENST00000295006.5:c.1515G>C	1.37:g.223947169G>C	ENSP00000295006:p.Lys505Asn	42	0		61	22	NM_001748	0	0	2	5	3	A6NDG7|B7ZA96|E7ES58|Q16738|Q6PJT3|Q8WU26|Q9HBB1	Missense_Mutation	SNP	ENST00000295006.5	37	CCDS31035.1	.	.	.	.	.	.	.	.	.	.	G	17.69	3.452633	0.63290	.	.	ENSG00000162909	ENST00000433674;ENST00000295006;ENST00000366869	D;D	0.88741	-2.42;-2.42	5.91	5.91	0.95273	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	0.043994	0.85682	D	0.000000	D	0.93304	0.7866	M	0.79011	2.435	0.58432	D	0.999997	B;P;D	0.56035	0.112;0.68;0.974	B;P;P	0.62491	0.381;0.725;0.903	D	0.92689	0.6165	10	0.46703	T	0.11	.	13.9012	0.63804	0.0777:0.0:0.9223:0.0	.	427;88;505	B7ZA96;B3KUH9;P17655	.;.;CAN2_HUMAN	N	427;505;534	ENSP00000413158:K427N;ENSP00000295006:K505N	ENSP00000295006:K505N	K	+	3	2	CAPN2	222013792	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	3.086000	0.50159	2.793000	0.96121	0.655000	0.94253	AAG	.		0.562	CAPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090973.1	NM_001748	
PARP1	142	broad.mit.edu;bcgsc.ca	37	1	226573266	226573266	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:226573266G>A	ENST00000366794.5	-	7	1093	c.950C>T	c.(949-951)gCc>gTc	p.A317V		NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	317					base-excision repair (GO:0006284)|cellular response to insulin stimulus (GO:0032869)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|gene expression (GO:0010467)|macrophage differentiation (GO:0030225)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein ADP-ribosylation (GO:0006471)|protein autoprocessing (GO:0016540)|protein poly-ADP-ribosylation (GO:0070212)|regulation of growth rate (GO:0040009)|signal transduction involved in regulation of gene expression (GO:0023019)|telomere maintenance (GO:0000723)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NAD binding (GO:0051287)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		CTTGGTCCAGGCAGTGACGTC	0.567								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																													p.A317V		.											.	PARP1-727	0			c.C950T						.						122.0	101.0	108.0					1																	226573266		2203	4300	6503	SO:0001583	missense	142	exon7			GTCCAGGCAGTGA	BC037545	CCDS1554.1	1q41-q42	2010-02-16	2008-07-28	2004-08-26	ENSG00000143799	ENSG00000143799	2.4.2.30	"""Poly (ADP-ribose) polymerases"""	270	protein-coding gene	gene with protein product		173870	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)"", ""poly (ADP-ribose) polymerase family, member 1"""	PPOL, ADPRT		10964595	Standard	NM_001618		Approved	PARP	uc001hqd.4	P09874	OTTHUMG00000037556	ENST00000366794.5:c.950C>T	1.37:g.226573266G>A	ENSP00000355759:p.Ala317Val	173	0		310	15	NM_001618	0	0	60	64	4	B1ANJ4|Q8IUZ9	Missense_Mutation	SNP	ENST00000366794.5	37	CCDS1554.1	.	.	.	.	.	.	.	.	.	.	G	30	5.055272	0.93793	.	.	ENSG00000143799	ENST00000366794	T	0.78481	-1.18	5.45	5.45	0.79879	PADR1 (1);	0.000000	0.85682	D	0.000000	D	0.84973	0.5591	L	0.49350	1.555	0.80722	D	1	D	0.56521	0.976	D	0.64506	0.926	D	0.84713	0.0735	10	0.49607	T	0.09	-3.3368	19.2981	0.94131	0.0:0.0:1.0:0.0	.	317	P09874	PARP1_HUMAN	V	317	ENSP00000355759:A317V	ENSP00000355759:A317V	A	-	2	0	PARP1	224639889	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.621000	0.83083	2.546000	0.85860	0.655000	0.94253	GCC	.		0.567	PARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091519.1	NM_001618	
OBSCN	84033	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	228475560	228475560	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:228475560C>T	ENST00000422127.1	+	36	9754	c.9710C>T	c.(9709-9711)gCc>gTc	p.A3237V	OBSCN_ENST00000366709.4_Missense_Mutation_p.A356V|OBSCN_ENST00000366707.4_Missense_Mutation_p.A356V|OBSCN_ENST00000284548.11_Missense_Mutation_p.A3237V|OBSCN_ENST00000570156.2_Missense_Mutation_p.A3666V|OBSCN_ENST00000359599.6_Missense_Mutation_p.A2084V	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3237	Ig-like 32.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CAGGAGGGTGCCATGCTGGAG	0.617																																					p.A3666V		.											.	OBSCN-403	0			c.C10997T						.						75.0	84.0	81.0					1																	228475560		2135	4249	6384	SO:0001583	missense	84033	exon41			AGGGTGCCATGCT	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.9710C>T	1.37:g.228475560C>T	ENSP00000409493:p.Ala3237Val	180	0		214	16	NM_001271223	0	0	1	1	0	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	13.39	2.224013	0.39300	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709;ENST00000359599	T;T;T;T;T	0.70282	-0.47;-0.47;-0.47;-0.33;-0.47	5.06	2.91	0.33838	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.350910	0.04710	N	0.417461	T	0.65386	0.2686	L	0.48642	1.525	0.09310	N	1	B;B	0.21225	0.053;0.046	B;B	0.32149	0.141;0.061	T	0.52457	-0.8573	10	0.28530	T	0.3	.	4.6925	0.12788	0.2604:0.5359:0.1289:0.0748	.	3237;3237	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	V	3237;3237;356;356;2084	ENSP00000284548:A3237V;ENSP00000409493:A3237V;ENSP00000355668:A356V;ENSP00000355670:A356V;ENSP00000352613:A2084V	ENSP00000284548:A3237V	A	+	2	0	OBSCN	226542183	0.000000	0.05858	0.004000	0.12327	0.001000	0.01503	-0.386000	0.07370	2.352000	0.79861	0.561000	0.74099	GCC	.		0.617	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843	
CAPN9	10753	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	230921739	230921739	+	Silent	SNP	A	A	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:230921739A>T	ENST00000271971.2	+	12	1607	c.1494A>T	c.(1492-1494)ggA>ggT	p.G498G	RP11-99J16__A.2_ENST00000452640.1_RNA|CAPN9_ENST00000354537.1_Silent_p.G472G|CAPN9_ENST00000366666.2_Silent_p.G435G|RP11-99J16__A.2_ENST00000428480.1_RNA|RP11-99J16__A.2_ENST00000412344.1_RNA	NM_006615.2	NP_006606.1	O14815	CAN9_HUMAN	calpain 9	498	Domain III.				digestion (GO:0007586)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				ATATGGATGGAAATGTAGACA	0.478																																					p.G498G		.											.	CAPN9-91	0			c.A1494T						.						452.0	446.0	448.0					1																	230921739		2203	4300	6503	SO:0001819	synonymous_variant	10753	exon12			GGATGGAAATGTA	AF022799	CCDS1586.1, CCDS31053.1	1q42.11-q42.3	2013-01-10	2004-11-11		ENSG00000135773	ENSG00000135773		"""EF-hand domain containing"""	1486	protein-coding gene	gene with protein product	"""novel calpain large subunit-4"""	606401	"""calpain 9 (nCL-4)"""			9524069, 10835488	Standard	XM_005273010		Approved	nCL-4, GC36	uc001htz.1	O14815	OTTHUMG00000037779	ENST00000271971.2:c.1494A>T	1.37:g.230921739A>T		200	0		275	121	NM_006615	0	0	0	0	0	B1APS1|B1AQI0|Q9NS74	Silent	SNP	ENST00000271971.2	37	CCDS1586.1																																																																																			.		0.478	CAPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092179.1	NM_006615	
TTC13	79573	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	231079568	231079568	+	Missense_Mutation	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:231079568A>G	ENST00000366661.4	-	6	663	c.656T>C	c.(655-657)tTt>tCt	p.F219S	TTC13_ENST00000414259.1_Intron|TTC13_ENST00000366662.4_Intron	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	219										central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		TCGCTGCTCAAATACCTCTGG	0.378																																					p.F219S		.											.	TTC13-92	0			c.T656C						.						148.0	148.0	148.0					1																	231079568		2203	4300	6503	SO:0001583	missense	79573	exon6			TGCTCAAATACCT		CCDS1588.1, CCDS44332.1, CCDS44332.2	1q42.2	2013-01-10			ENSG00000143643	ENSG00000143643		"""Tetratricopeptide (TTC) repeat domain containing"""	26204	protein-coding gene	gene with protein product							Standard	NM_024525		Approved	FLJ22584	uc001huf.4	Q8NBP0	OTTHUMG00000037788	ENST00000366661.4:c.656T>C	1.37:g.231079568A>G	ENSP00000355621:p.Phe219Ser	50	0		43	20	NM_024525	0	0	5	8	3	B1AQI1|B1AQI2|Q8IVP8|Q8NBI0|Q8ND20	Missense_Mutation	SNP	ENST00000366661.4	37	CCDS1588.1	.	.	.	.	.	.	.	.	.	.	A	15.52	2.857514	0.51376	.	.	ENSG00000143643	ENST00000366661	T	0.38077	1.16	5.6	4.47	0.54385	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.063526	0.64402	D	0.000003	T	0.31949	0.0813	L	0.43923	1.385	0.80722	D	1	B	0.19331	0.035	B	0.19946	0.027	T	0.09378	-1.0677	10	0.72032	D	0.01	-14.8463	11.5164	0.50524	0.9296:0.0:0.0704:0.0	.	219	Q8NBP0	TTC13_HUMAN	S	219	ENSP00000355621:F219S	ENSP00000355621:F219S	F	-	2	0	TTC13	229146191	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.504000	0.60414	0.952000	0.37798	0.477000	0.44152	TTT	.		0.378	TTC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092229.2	NM_024525	
ARV1	64801	hgsc.bcm.edu	37	1	231131567	231131567	+	Frame_Shift_Del	DEL	A	A	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:231131567delA	ENST00000310256.2	+	4	567	c.510delA	c.(508-510)gcafs	p.A170fs	ARV1_ENST00000497753.1_3'UTR|ARV1_ENST00000366658.2_Frame_Shift_Del_p.A130fs	NM_022786.1	NP_073623.1	Q9H2C2	ARV1_HUMAN	ARV1 homolog (S. cerevisiae)	170					bile acid metabolic process (GO:0008206)|cholesterol transport (GO:0030301)|regulation of cholesterol metabolic process (GO:0090181)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)				breast(3)|large_intestine(2)|lung(2)	7	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)		COAD - Colon adenocarcinoma(196;0.211)|Colorectal(1306;0.233)		CCATGACGGCAAAAAAAAAGC	0.383																																					p.A170fs		.											.	ARV1-154	0			c.510delA						.						81.0	79.0	80.0					1																	231131567		2203	4300	6503	SO:0001589	frameshift_variant	64801	exon4			GACGGCAAAAAAA	AF271780	CCDS1589.1	1q42.2	2014-02-03	2006-04-04		ENSG00000173409	ENSG00000173409			29561	protein-coding gene	gene with protein product		611647	"""ARV1 homolog (yeast)"""			11063737, 12145310, 20663892	Standard	NM_022786		Approved		uc001huh.3	Q9H2C2	OTTHUMG00000037837	ENST00000310256.2:c.510delA	1.37:g.231131567delA	ENSP00000312458:p.Ala170fs	50	0		64	25	NM_022786	0	0	0	0	0	A8KAI4|Q5VSN7|Q5VSN8|Q5VSN9|Q5VSP0|Q5VSP2|Q9H2H2|Q9H5V6|Q9UFF5	Frame_Shift_Del	DEL	ENST00000310256.2	37	CCDS1589.1																																																																																			.		0.383	ARV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092362.2	NM_022786	
TRIM67	440730	ucsc.edu;bcgsc.ca	37	1	231349649	231349649	+	Nonsense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:231349649C>T	ENST00000366653.5	+	9	2212	c.2212C>T	c.(2212-2214)Cag>Tag	p.Q738*	TRIM67_ENST00000449018.3_Nonsense_Mutation_p.Q676*|TRIM67_ENST00000444294.3_Nonsense_Mutation_p.Q736*|TRIM67_ENST00000366652.2_Nonsense_Mutation_p.Q738*			Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	738	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				CAACGGGCAGCAGCAGGGCCC	0.642																																					p.Q738X		.											.	TRIM67-229	0			c.C2212T						.						61.0	70.0	67.0					1																	231349649		2126	4235	6361	SO:0001587	stop_gained	440730	exon9			GGGCAGCAGCAGG	AK126782	CCDS44333.1, CCDS73048.1	1q42.2	2014-02-17	2011-01-25		ENSG00000119283	ENSG00000119283		"""Tripartite motif containing / Tripartite motif containing"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	31859	protein-coding gene	gene with protein product		610584	"""tripartite motif-containing 67"""				Standard	NM_001004342		Approved	TNL	uc009xfn.1	Q6ZTA4	OTTHUMG00000037958	ENST00000366653.5:c.2212C>T	1.37:g.231349649C>T	ENSP00000355613:p.Gln738*	298	2		473	241	NM_001004342	0	0	0	0	0	Q5TER7|Q5TER8|Q7Z4K7	Nonsense_Mutation	SNP	ENST00000366653.5	37	CCDS44333.1	.	.	.	.	.	.	.	.	.	.	C	47	13.636213	0.99754	.	.	ENSG00000119283	ENST00000444294;ENST00000366652;ENST00000449018;ENST00000366653	.	.	.	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.6098	0.95600	0.0:1.0:0.0:0.0	.	.	.	.	X	736;738;676;738	.	ENSP00000355612:Q738X	Q	+	1	0	TRIM67	229416272	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.473000	0.81007	2.714000	0.92807	0.561000	0.74099	CAG	.		0.642	TRIM67-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092649.3	NM_001004342	
GNPAT	8443	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	231396359	231396359	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:231396359C>T	ENST00000366647.4	+	3	537	c.368C>T	c.(367-369)gCc>gTc	p.A123V	GNPAT_ENST00000366646.3_Missense_Mutation_p.A62V	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase	123					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)				CGGTTTTGTGCCTTCACCCTG	0.378																																					p.A123V		.											.	GNPAT-156	0			c.C368T						.						218.0	225.0	223.0					1																	231396359		2203	4300	6503	SO:0001583	missense	8443	exon3			TTTGTGCCTTCAC	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.368C>T	1.37:g.231396359C>T	ENSP00000355607:p.Ala123Val	51	0		53	22	NM_014236	0	0	10	21	11	B4DNM9|Q5TBH7|Q9BWC2	Missense_Mutation	SNP	ENST00000366647.4	37	CCDS1592.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.883299	0.91740	.	.	ENSG00000116906	ENST00000436239;ENST00000366647;ENST00000366646;ENST00000416000	D;T;T;T	0.93426	-3.22;-0.2;-0.19;-0.21	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.96355	0.8811	M	0.68593	2.085	0.80722	D	1	D;D	0.89917	1.0;0.97	D;P	0.79108	0.992;0.77	D	0.96178	0.9128	10	0.59425	D	0.04	-1.7674	19.6239	0.95670	0.0:1.0:0.0:0.0	.	62;123	B4DNM9;O15228	.;GNPAT_HUMAN	V	62;123;62;123	ENSP00000402811:A62V;ENSP00000355607:A123V;ENSP00000355606:A62V;ENSP00000411640:A123V	ENSP00000355606:A62V	A	+	2	0	GNPAT	229462982	1.000000	0.71417	0.999000	0.59377	0.498000	0.33706	7.818000	0.86416	2.654000	0.90174	0.462000	0.41574	GCC	.		0.378	GNPAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092871.1		
EXOC8	149371	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	231471391	231471391	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:231471391C>T	ENST00000360394.2	-	1	2187	c.2101G>A	c.(2101-2103)Gcc>Acc	p.A701T	EXOC8_ENST00000366645.1_Missense_Mutation_p.A697T|SPRTN_ENST00000295050.7_5'Flank|SPRTN_ENST00000008440.9_5'Flank|SPRTN_ENST00000391858.4_5'Flank	NM_175876.3	NP_787072.2	Q8IYI6	EXOC8_HUMAN	exocyst complex component 8	701					cellular protein localization (GO:0034613)|cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)				cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				AGTTGCTTGGCAGGTTTCCCC	0.418																																					p.A701T		.											.	EXOC8-91	0			c.G2101A						.						165.0	155.0	158.0					1																	231471391		2203	4300	6503	SO:0001583	missense	149371	exon1			GCTTGGCAGGTTT	AL117352	CCDS1593.1	1q42.2	2013-01-22			ENSG00000116903	ENSG00000116903			24659	protein-coding gene	gene with protein product		615283				12477932	Standard	NM_175876		Approved	SEC84, EXO84, Exo84p	uc001huq.3	Q8IYI6	OTTHUMG00000038025	ENST00000360394.2:c.2101G>A	1.37:g.231471391C>T	ENSP00000353564:p.Ala701Thr	119	0		139	62	NM_175876	0	0	10	16	6	B3KU33|Q5TE82	Missense_Mutation	SNP	ENST00000360394.2	37	CCDS1593.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.897120	0.91962	.	.	ENSG00000116903	ENST00000360394;ENST00000366645	T;T	0.77620	-1.11;-1.1	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.85720	0.5762	L	0.57536	1.79	0.80722	D	1	D	0.63880	0.993	D	0.74674	0.984	T	0.81398	-0.0951	10	0.22109	T	0.4	-16.2486	19.5966	0.95541	0.0:1.0:0.0:0.0	.	701	Q8IYI6	EXOC8_HUMAN	T	701;697	ENSP00000353564:A701T;ENSP00000355605:A697T	ENSP00000353564:A701T	A	-	1	0	EXOC8	229538014	1.000000	0.71417	0.957000	0.39632	0.982000	0.71751	7.414000	0.80117	2.698000	0.92095	0.655000	0.94253	GCC	.		0.418	EXOC8-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_175876	
FMN2	56776	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	240255872	240255872	+	Frame_Shift_Del	DEL	G	G	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:240255872delG	ENST00000319653.9	+	1	693	c.463delG	c.(463-465)gggfs	p.G156fs		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	156					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GGCTAGGGTCGGGGGCCGGCC	0.667																																					p.G155fs		.											.	FMN2-145	0			c.463delG						.						23.0	29.0	27.0					1																	240255872		2203	4300	6503	SO:0001589	frameshift_variant	56776	exon1			AGGGTCGGGGGCC	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.463delG	1.37:g.240255872delG	ENSP00000318884:p.Gly156fs	128	0		150	68	NM_020066	0	0	0	0	0	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Frame_Shift_Del	DEL	ENST00000319653.9	37	CCDS31069.2																																																																																			.		0.667	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352	
OR14I1	401994	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	248844883	248844883	+	Silent	SNP	G	G	A	rs201585486		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:248844883G>A	ENST00000342623.3	-	1	746	c.723C>T	c.(721-723)ccC>ccT	p.P241P		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	241						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(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						CAATGAGCTGGGGGGAGCAGG	0.468																																					p.P241P		.											.	OR14I1-46	0			c.C723T						.						94.0	91.0	92.0					1																	248844883		2203	4300	6503	SO:0001819	synonymous_variant	401994	exon1			GAGCTGGGGGGAG		CCDS31125.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000189181	ENSG00000189181		"""GPCR / Class A : Olfactory receptors"""	19575	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily BU, member 1"""	OR5BU1P, OR5BU1			Standard	NM_001004734		Approved		uc001ieu.1	A6ND48	OTTHUMG00000040378	ENST00000342623.3:c.723C>T	1.37:g.248844883G>A		118	0		141	86	NM_001004734	0	0	0	0	0		Silent	SNP	ENST00000342623.3	37	CCDS31125.1																																																																																			G|0.999;C|0.001		0.468	OR14I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097128.1	NM_001004734	
SH3BP5L	80851	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	249106288	249106288	+	Silent	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:249106288A>G	ENST00000366472.5	-	7	2222	c.993T>C	c.(991-993)gaT>gaC	p.D331D	SH3BP5L_ENST00000411742.2_Silent_p.D299D|SH3BP5L_ENST00000475978.1_5'UTR	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	331										endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			GACTCAGGGTATCGGTGTCGG	0.697																																					p.D331D		.											.	SH3BP5L-90	0			c.T993C						.						20.0	26.0	24.0					1																	249106288		2196	4295	6491	SO:0001819	synonymous_variant	80851	exon7			CAGGGTATCGGTG	AB051507	CCDS31126.1	1q44	2008-02-05			ENSG00000175137	ENSG00000175137			29360	protein-coding gene	gene with protein product							Standard	NM_030645		Approved	KIAA1720	uc001iew.1	Q7L8J4	OTTHUMG00000040389	ENST00000366472.5:c.993T>C	1.37:g.249106288A>G		39	0		119	50	NM_030645	0	0	8	20	12	B4DQ94|Q96FI5|Q9BQH8|Q9C0E3	Silent	SNP	ENST00000366472.5	37	CCDS31126.1																																																																																			.		0.697	SH3BP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097140.1	NM_030645	
DIP2C	22982	broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	433695	433695	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:433695C>T	ENST00000280886.6	-	14	1739	c.1652G>A	c.(1651-1653)gGc>gAc	p.G551D	DIP2C_ENST00000381496.3_Missense_Mutation_p.G444D	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	551						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		TGTCAGGATGCCATGCCAGAG	0.577																																					p.G551D		.											.	DIP2C-156	0			c.G1652A						.						121.0	112.0	115.0					10																	433695		2203	4300	6503	SO:0001583	missense	22982	exon14			AGGATGCCATGCC	BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"""KIAA0934"""	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.1652G>A	10.37:g.433695C>T	ENSP00000280886:p.Gly551Asp	208	2		313	135	NM_014974	0	0	0	0	0	B4DPI5|Q5SS78	Missense_Mutation	SNP	ENST00000280886.6	37	CCDS7054.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.85|14.85	2.658932|2.658932	0.47467|0.47467	.|.	.|.	ENSG00000151240|ENSG00000151240	ENST00000421992|ENST00000280886;ENST00000381496	.|T;T	.|0.41758	.|0.99;0.99	4.75|4.75	4.75|4.75	0.60458|0.60458	.|AMP-dependent synthetase/ligase (1);	.|0.053759	.|0.64402	.|D	.|0.000001	T|T	0.66096|0.66096	0.2755|0.2755	M|M	0.77820|0.77820	2.39|2.39	0.48511|0.48511	D|D	0.999666|0.999666	.|D;P	.|0.59767	.|0.986;0.925	.|D;P	.|0.70227	.|0.968;0.892	T|T	0.71580|0.71580	-0.4550|-0.4550	5|10	.|0.66056	.|D	.|0.02	-26.3935|-26.3935	17.7309|17.7309	0.88377|0.88377	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|444;551	.|E7EPU2;Q9Y2E4	.|.;DIP2C_HUMAN	T|D	19|551;444	.|ENSP00000280886:G551D;ENSP00000370907:G444D	.|ENSP00000280886:G551D	A|G	-|-	1|2	0|0	DIP2C|DIP2C	423695|423695	1.000000|1.000000	0.71417|0.71417	0.685000|0.685000	0.30070|0.30070	0.070000|0.070000	0.16714|0.16714	4.945000|4.945000	0.63568|0.63568	2.183000|2.183000	0.69458|0.69458	0.462000|0.462000	0.41574|0.41574	GCA|GGC	.		0.577	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974	
ADARB2	105	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	1284298	1284298	+	Silent	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:1284298C>T	ENST00000381312.1	-	5	1582	c.1257G>A	c.(1255-1257)gaG>gaA	p.E419E	ADARB2_ENST00000469464.1_5'Flank	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	419	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				mRNA processing (GO:0006397)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		CACTGAGGTGCTCGCCGCTGA	0.672																																					p.E419E		.											.	ADARB2-153	0			c.G1257A						.						36.0	27.0	30.0					10																	1284298		2197	4292	6489	SO:0001819	synonymous_variant	105	exon5			GAGGTGCTCGCCG	AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	3.5.-.-		227	protein-coding gene	gene with protein product	"""RED2 homolog (rat)"""	602065	"""adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)"", ""adenosine deaminase, RNA-specific, B2"""			9272162, 10836796	Standard	NM_018702		Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.1257G>A	10.37:g.1284298C>T		89	0		181	68	NM_018702	0	0	0	0	0	B2RPJ5|Q5VUT6|Q5VW42	Silent	SNP	ENST00000381312.1	37	CCDS7058.1																																																																																			.		0.672	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046426.1	NM_018702	
PITRM1	10531	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	3205972	3205972	+	Missense_Mutation	SNP	T	T	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:3205972T>A	ENST00000224949.4	-	7	770	c.736A>T	c.(736-738)Aca>Tca	p.T246S	PITRM1-AS1_ENST00000601046.1_RNA|PITRM1-AS1_ENST00000598280.1_RNA|PITRM1_ENST00000380989.2_Missense_Mutation_p.T246S|PITRM1_ENST00000451104.2_Missense_Mutation_p.T214S			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1	246					positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						TGCTCCCATGTAAGCTCCGGG	0.478																																					p.T246S		.											.	PITRM1-91	0			c.A736T						.						133.0	131.0	132.0					10																	3205972		1961	4156	6117	SO:0001583	missense	10531	exon7			CCCATGTAAGCTC	AB029027	CCDS55699.1, CCDS55700.1, CCDS59208.1	10p15.2	2008-07-30	2005-08-17		ENSG00000107959	ENSG00000107959			17663	protein-coding gene	gene with protein product	"""PreP peptidasome"""		"""pitrilysin metalloproteinase 1"""			1036083, 10470851, 16849325	Standard	NM_014889		Approved	MP1, KIAA1104, hMP1, PreP	uc009xhv.2	Q5JRX3	OTTHUMG00000017557	ENST00000224949.4:c.736A>T	10.37:g.3205972T>A	ENSP00000224949:p.Thr246Ser	127	0		174	81	NM_014889	0	0	58	101	43	B3KMJ6|B4E0J8|C9JSL2|E7ES23|O95204|Q2M2G6|Q4VBR1|Q5JRW7|Q7L5Z7|Q9BSI6|Q9BVJ5|Q9UPP8	Missense_Mutation	SNP	ENST00000224949.4	37	CCDS59208.1	.	.	.	.	.	.	.	.	.	.	t	11.76	1.735112	0.30774	.	.	ENSG00000107959	ENST00000224949;ENST00000380980;ENST00000380989;ENST00000451104	T;T;T	0.42131	0.98;0.98;0.98	5.66	4.42	0.53409	Peptidase M16, C-terminal (1);Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.041854	0.85682	D	0.000000	T	0.45558	0.1348	M	0.65498	2.005	0.43065	D	0.994698	B;B;B;B;B;B	0.32604	0.043;0.045;0.149;0.377;0.377;0.377	B;B;B;B;B;B	0.37989	0.023;0.113;0.17;0.262;0.262;0.262	T	0.52616	-0.8552	10	0.62326	D	0.03	.	12.3695	0.55246	0.1884:0.0:0.0:0.8116	.	239;214;246;246;246;239	E9PDX6;E7ES23;Q5JRX3-2;C9JSL2;Q5JRX3;B4DH07	.;.;.;.;PREP_HUMAN;.	S	246;239;246;214	ENSP00000224949:T246S;ENSP00000370377:T246S;ENSP00000401201:T214S	ENSP00000224949:T246S	T	-	1	0	PITRM1	3195972	1.000000	0.71417	0.970000	0.41538	0.011000	0.07611	3.590000	0.53979	2.176000	0.68965	0.529000	0.55759	ACA	.		0.478	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046469.2		
UCN3	114131	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	10	5415774	5415774	+	Frame_Shift_Del	DEL	C	C	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:5415774delC	ENST00000380433.3	+	2	319	c.91delC	c.(91-93)cccfs	p.P31fs		NM_053049.2	NP_444277.2	Q969E3	UCN3_HUMAN	urocortin 3	31					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|digestion (GO:0007586)|positive regulation of insulin secretion (GO:0032024)|positive regulation of membrane potential (GO:0045838)|response to corticosterone (GO:0051412)|response to glucose (GO:0009749)|response to immobilization stress (GO:0035902)|response to starvation (GO:0042594)	axon terminus (GO:0043679)|extracellular space (GO:0005615)|varicosity (GO:0043196)				endometrium(1)|large_intestine(1)	2						CAAAGCCAAGCCCATCTTCAG	0.627																																					p.P31fs		.											.	UCN3-90	0			c.91delC						.						46.0	47.0	47.0					10																	5415774		2203	4300	6503	SO:0001589	frameshift_variant	114131	exon2			GCCAAGCCCATCT	AF361943	CCDS7065.1	10p15.1	2013-02-28	2012-10-17		ENSG00000178473	ENSG00000178473		"""Endogenous ligands"""	17781	protein-coding gene	gene with protein product	"""stresscopin"", ""prepro-urocortin 3"""	605901				11416224	Standard	NM_053049		Approved	UCNIII, SPC	uc001ihx.1	Q969E3	OTTHUMG00000017594	ENST00000380433.3:c.91delC	10.37:g.5415774delC	ENSP00000369798:p.Pro31fs	75	0		98	48	NM_053049	0	0	0	0	0	Q496H2|Q5SR91	Frame_Shift_Del	DEL	ENST00000380433.3	37	CCDS7065.1																																																																																			.		0.627	UCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046547.1	NM_053049	
SFMBT2	57713	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	10	7213881	7213881	+	Silent	SNP	C	C	T	rs568359802	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:7213881C>T	ENST00000361972.4	-	19	2481	c.2391G>A	c.(2389-2391)ccG>ccA	p.P797P	SFMBT2_ENST00000397167.1_Silent_p.P797P	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	797					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)			NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						GCTTGGTCGGCGGGCACTTCT	0.701													c|||	2	0.000399361	0.0015	0.0	5008	,	,		13883	0.0		0.0	False		,,,				2504	0.0				p.P797P		.											.	SFMBT2-141	0			c.G2391A						.						10.0	12.0	11.0					10																	7213881		2134	4200	6334	SO:0001819	synonymous_variant	57713	exon19			GGTCGGCGGGCAC	AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"""Sterile alpha motif (SAM) domain containing"""	20256	protein-coding gene	gene with protein product		615392	"""Scm-related gene containing four mbt domains 2"""			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.2391G>A	10.37:g.7213881C>T		19	0		39	21	NM_001029880	0	0	0	4	4	A7MD09|Q9HCF5	Silent	SNP	ENST00000361972.4	37	CCDS31138.1																																																																																			.		0.701	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880	
ITIH2	3698	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	7788557	7788557	+	Splice_Site	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:7788557C>T	ENST00000358415.4	+	20	2749	c.2583C>T	c.(2581-2583)ggC>ggT	p.G861G	ITIH2_ENST00000379587.4_Splice_Site_p.G850G	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	861					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TTTTGCTAGGCCAGTTCATGC	0.458																																					p.G861G		.											.	ITIH2-93	0			c.C2583T						.						66.0	57.0	60.0					10																	7788557		2203	4300	6503	SO:0001630	splice_region_variant	3698	exon20			GCTAGGCCAGTTC	X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"""inter-alpha (globulin) inhibitor, H2 polypeptide"""			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.2582-1C>T	10.37:g.7788557C>T		202	0		226	101	NM_002216	0	0	0	0	0	Q14659|Q15484|Q5T986	Silent	SNP	ENST00000358415.4	37	CCDS31141.1																																																																																			.		0.458	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	NM_002216	Silent
CUBN	8029	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	16930425	16930425	+	Missense_Mutation	SNP	G	G	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:16930425G>T	ENST00000377833.4	-	56	8961	c.8896C>A	c.(8896-8898)Cac>Aac	p.H2966N		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2966	CUB 22. {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)	CCTTCTAAGTGGAAGGACACA	0.318																																					p.H2966N		.											.	CUBN-166	0			c.C8896A						.						128.0	116.0	120.0					10																	16930425		2203	4300	6503	SO:0001583	missense	8029	exon56			CTAAGTGGAAGGA	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.8896C>A	10.37:g.16930425G>T	ENSP00000367064:p.His2966Asn	75	0		66	29	NM_001081	0	0	0	0	0	B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	G	13.16	2.153617	0.38021	.	.	ENSG00000107611	ENST00000377833	T	0.15487	2.42	5.89	5.89	0.94794	CUB (5);	0.000000	0.46758	D	0.000265	T	0.17534	0.0421	L	0.28649	0.875	0.80722	D	1	D	0.54047	0.964	P	0.48524	0.58	T	0.03051	-1.1078	10	0.15066	T	0.55	.	14.7563	0.69567	0.0:0.2594:0.7406:0.0	.	2966	O60494	CUBN_HUMAN	N	2966	ENSP00000367064:H2966N	ENSP00000367064:H2966N	H	-	1	0	CUBN	16970431	1.000000	0.71417	0.999000	0.59377	0.162000	0.22319	2.189000	0.42621	2.793000	0.96121	0.561000	0.74099	CAC	.		0.318	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081	
CUBN	8029	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	17024637	17024637	+	Missense_Mutation	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:17024637A>G	ENST00000377833.4	-	31	4606	c.4541T>C	c.(4540-4542)tTc>tCc	p.F1514S		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1514	CUB 10. {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)	GGGAGCCTGGAAAATCCCACC	0.433																																					p.F1514S		.											.	CUBN-166	0			c.T4541C						.						63.0	55.0	58.0					10																	17024637		2203	4300	6503	SO:0001583	missense	8029	exon31			GCCTGGAAAATCC	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.4541T>C	10.37:g.17024637A>G	ENSP00000367064:p.Phe1514Ser	27	0		51	26	NM_001081	0	0	0	0	0	B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	A	19.96	3.924187	0.73213	.	.	ENSG00000107611	ENST00000377833;ENST00000438254	T;T	0.29917	1.55;1.55	5.39	4.24	0.50183	CUB (5);	0.150667	0.31210	N	0.008043	T	0.53334	0.1790	M	0.80616	2.505	0.80722	D	1	D	0.64830	0.994	D	0.63033	0.91	T	0.58521	-0.7622	10	0.87932	D	0	.	11.8873	0.52610	0.869:0.0:0.0:0.1309	.	1514	O60494	CUBN_HUMAN	S	1514;36	ENSP00000367064:F1514S;ENSP00000391830:F36S	ENSP00000367064:F1514S	F	-	2	0	CUBN	17064643	1.000000	0.71417	0.994000	0.49952	0.936000	0.57629	8.803000	0.91915	0.970000	0.38263	-0.333000	0.08304	TTC	.		0.433	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081	
CUBN	8029	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	17130173	17130173	+	Missense_Mutation	SNP	T	T	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:17130173T>A	ENST00000377833.4	-	15	2002	c.1937A>T	c.(1936-1938)gAt>gTt	p.D646V		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	646	CUB 2. {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)	CTCAAGGTAATCTTTGTTGCA	0.413																																					p.D646V		.											.	CUBN-166	0			c.A1937T						.						78.0	74.0	75.0					10																	17130173		2203	4300	6503	SO:0001583	missense	8029	exon15			AGGTAATCTTTGT	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.1937A>T	10.37:g.17130173T>A	ENSP00000367064:p.Asp646Val	77	1		87	40	NM_001081	0	0	0	0	0	B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	T	19.58	3.854470	0.71719	.	.	ENSG00000107611	ENST00000377833	T	0.35421	1.31	5.29	4.16	0.48862	CUB (5);	0.000000	0.46442	D	0.000286	T	0.72787	0.3504	H	0.99286	4.5	0.80722	D	1	D	0.76494	0.999	D	0.65573	0.936	T	0.81413	-0.0944	10	0.87932	D	0	.	10.781	0.46377	0.0:0.0748:0.0:0.9252	.	646	O60494	CUBN_HUMAN	V	646	ENSP00000367064:D646V	ENSP00000367064:D646V	D	-	2	0	CUBN	17170179	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.778000	0.85637	1.032000	0.39892	0.533000	0.62120	GAT	.		0.413	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081	
CUBN	8029	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	17146555	17146555	+	Missense_Mutation	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:17146555A>G	ENST00000377833.4	-	12	1345	c.1280T>C	c.(1279-1281)gTc>gCc	p.V427A		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	427	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)	TGTACAGTTGACACCTGTCCA	0.393																																					p.V427A		.											.	CUBN-166	0			c.T1280C						.						113.0	83.0	93.0					10																	17146555		2203	4300	6503	SO:0001583	missense	8029	exon12			CAGTTGACACCTG	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.1280T>C	10.37:g.17146555A>G	ENSP00000367064:p.Val427Ala	244	0		281	117	NM_001081	0	0	0	0	0	B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	A	11.33	1.605841	0.28623	.	.	ENSG00000107611	ENST00000377833	D	0.91351	-2.83	5.45	0.53	0.17102	Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	1.225780	0.06052	N	0.656813	T	0.81327	0.4799	L	0.31526	0.94	0.09310	N	0.999996	B	0.19445	0.036	B	0.19391	0.025	T	0.64841	-0.6312	10	0.08381	T	0.77	.	3.3854	0.07269	0.4089:0.0:0.3989:0.1922	.	427	O60494	CUBN_HUMAN	A	427	ENSP00000367064:V427A	ENSP00000367064:V427A	V	-	2	0	CUBN	17186561	0.003000	0.15002	0.551000	0.28230	0.959000	0.62525	0.324000	0.19610	0.356000	0.24157	0.533000	0.62120	GTC	.		0.393	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081	
KIAA1217	56243	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	10	24762792	24762792	+	Frame_Shift_Del	DEL	C	C	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:24762792delC	ENST00000376454.3	+	6	1512	c.1482delC	c.(1480-1482)ggcfs	p.G494fs	KIAA1217_ENST00000376452.3_Frame_Shift_Del_p.G494fs|KIAA1217_ENST00000458595.1_Frame_Shift_Del_p.G494fs|KIAA1217_ENST00000307544.6_Frame_Shift_Del_p.G212fs|KIAA1217_ENST00000376451.2_Frame_Shift_Del_p.G212fs|KIAA1217_ENST00000430453.2_Frame_Shift_Del_p.G415fs|KIAA1217_ENST00000396445.1_Frame_Shift_Del_p.G212fs|KIAA1217_ENST00000376462.1_Frame_Shift_Del_p.G414fs|KIAA1217_ENST00000396446.1_Frame_Shift_Del_p.G212fs	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	494					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						ATGCCCACGGCCCCCCTCACA	0.582																																					p.G494fs		.											.	KIAA1217-98	0			c.1482delC						.						91.0	81.0	84.0					10																	24762792		2203	4300	6503	SO:0001589	frameshift_variant	56243	exon6			CCACGGCCCCCCT	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.1482delC	10.37:g.24762792delC	ENSP00000365637:p.Gly494fs	74	0		99	38	NM_019590	0	0	0	0	0	A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Frame_Shift_Del	DEL	ENST00000376454.3	37	CCDS31165.1																																																																																			.		0.582	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590	
ANKRD26	22852	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	27324108	27324108	+	Missense_Mutation	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:27324108T>C	ENST00000376087.4	-	24	3436	c.3271A>G	c.(3271-3273)Act>Gct	p.T1091A	ANKRD26_ENST00000376070.3_Missense_Mutation_p.T648A|ANKRD26_ENST00000436985.2_Missense_Mutation_p.T1107A	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1090					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						AAACCCAAAGTCTTTTCTCTG	0.348																																					p.T1091A		.											.	ANKRD26-138	0			c.A3271G						.						128.0	123.0	125.0					10																	27324108		1838	4096	5934	SO:0001583	missense	22852	exon24			CCAAAGTCTTTTC	AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"""Ankyrin repeat domain containing"""	29186	protein-coding gene	gene with protein product		610855	"""thrombocytopenia 2 (autosomal dominant)"""	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.3271A>G	10.37:g.27324108T>C	ENSP00000365255:p.Thr1091Ala	105	1		108	56	NM_014915	0	0	1	2	1	A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Missense_Mutation	SNP	ENST00000376087.4	37	CCDS41499.1	.	.	.	.	.	.	.	.	.	.	T	13.60	2.286147	0.40394	.	.	ENSG00000107890	ENST00000376070;ENST00000376087;ENST00000436985	T;T;T	0.15256	2.44;2.44;2.44	5.43	5.43	0.79202	.	0.500858	0.17876	N	0.159012	T	0.14141	0.0342	L	0.48260	1.515	0.27961	N	0.936758	P;P;P	0.46784	0.884;0.816;0.816	B;B;B	0.39152	0.292;0.152;0.152	T	0.14643	-1.0465	10	0.27785	T	0.31	.	8.0706	0.30687	0.0:0.0897:0.0:0.9103	.	1091;1090;1107	Q9UPS8-3;Q9UPS8;A1L497	.;ANR26_HUMAN;.	A	648;1091;1107	ENSP00000365238:T648A;ENSP00000365255:T1091A;ENSP00000405112:T1107A	ENSP00000365238:T648A	T	-	1	0	ANKRD26	27364114	0.985000	0.35326	0.223000	0.23860	0.949000	0.60115	1.539000	0.36104	2.057000	0.61298	0.482000	0.46254	ACT	.		0.348	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1		
MASTL	84930	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	27470451	27470451	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:27470451C>T	ENST00000375940.4	+	11	2480	c.2423C>T	c.(2422-2424)gCt>gTt	p.A808V	MASTL_ENST00000342386.6_Missense_Mutation_p.A769V|MASTL_ENST00000477034.1_Intron|MASTL_ENST00000375946.4_Missense_Mutation_p.A807V			Q96GX5	GWL_HUMAN	microtubule associated serine/threonine kinase-like	808	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of protein phosphatase type 2A activity (GO:0034048)|regulation of cell cycle (GO:0051726)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein phosphatase 2A binding (GO:0051721)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCTGATAATGCTCAAAGTGCA	0.294																																					p.A808V		.											.	MASTL-522	0			c.C2423T						.						119.0	127.0	124.0					10																	27470451		2203	4300	6503	SO:0001583	missense	84930	exon11			ATAATGCTCAAAG	BC009107	CCDS7153.1, CCDS53502.1, CCDS53503.1	10p12.1	2005-11-03			ENSG00000120539	ENSG00000120539			19042	protein-coding gene	gene with protein product		608221					Standard	NM_001172303		Approved	FLJ14813, THC2	uc001itm.3	Q96GX5	OTTHUMG00000017855	ENST00000375940.4:c.2423C>T	10.37:g.27470451C>T	ENSP00000365107:p.Ala808Val	99	0		58	24	NM_001172303	0	0	20	32	12	Q5T8D5|Q5T8D7|Q8NCD6|Q96SJ5	Missense_Mutation	SNP	ENST00000375940.4	37	CCDS53502.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.724217	0.89298	.	.	ENSG00000120539	ENST00000375946;ENST00000342386;ENST00000375940	T;T;T	0.66815	-0.23;2.0;-0.23	6.04	5.09	0.68999	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.323190	0.37857	N	0.001906	T	0.76513	0.3998	L	0.49350	1.555	0.44000	D	0.996702	D;P;P	0.57257	0.979;0.952;0.787	P;P;P	0.60117	0.804;0.869;0.526	T	0.78097	-0.2337	10	0.87932	D	0	-15.5616	18.9861	0.92771	0.0:0.8761:0.1239:0.0	.	769;808;807	Q96GX5-2;Q96GX5;Q96GX5-3	.;GWL_HUMAN;.	V	807;769;808	ENSP00000365113:A807V;ENSP00000343446:A769V;ENSP00000365107:A808V	ENSP00000343446:A769V	A	+	2	0	MASTL	27510457	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.219000	0.65262	2.873000	0.98535	0.561000	0.74099	GCT	.		0.294	MASTL-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047320.1	NM_032844	
MKX	283078	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	27964211	27964211	+	Missense_Mutation	SNP	A	A	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:27964211A>C	ENST00000375790.5	-	7	1438	c.1006T>G	c.(1006-1008)Tcc>Gcc	p.S336A	MKX_ENST00000419761.1_Missense_Mutation_p.S336A			Q8IYA7	MKX_HUMAN	mohawk homeobox	336					collagen fibril organization (GO:0030199)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|positive regulation of collagen biosynthetic process (GO:0032967)|tendon cell differentiation (GO:0035990)|tendon sheath development (GO:0002932)	nucleus (GO:0005634)	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)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						GCTATATGGGACGACTTCTGG	0.463																																					p.S336A		.											.	MKX-91	0			c.T1006G						.						253.0	216.0	228.0					10																	27964211		2203	4300	6503	SO:0001583	missense	283078	exon7			TATGGGACGACTT	BC036207	CCDS7156.1	10p12.1	2011-06-20	2006-03-31	2006-03-31	ENSG00000150051	ENSG00000150051		"""Homeoboxes / TALE class"""	23729	protein-coding gene	gene with protein product		601332	"""chromosome 10 open reading frame 48"", ""iroquois homeobox protein-like 1"""	C10orf48, IRXL1		16408284	Standard	NM_173576		Approved	MGC39616	uc001itx.4	Q8IYA7	OTTHUMG00000017862	ENST00000375790.5:c.1006T>G	10.37:g.27964211A>C	ENSP00000364946:p.Ser336Ala	62	0		102	39	NM_001242702	0	0	1	1	0	B3KWM5	Missense_Mutation	SNP	ENST00000375790.5	37	CCDS7156.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.499477	0.85069	.	.	ENSG00000150051	ENST00000375790;ENST00000419761	T;T	0.16597	2.33;2.33	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.38268	0.1034	L	0.55481	1.735	0.80722	D	1	D	0.64830	0.994	D	0.72625	0.978	T	0.10428	-1.0630	10	0.87932	D	0	-22.7664	16.0697	0.80914	1.0:0.0:0.0:0.0	.	336	Q8IYA7	MKX_HUMAN	A	336	ENSP00000364946:S336A;ENSP00000400896:S336A	ENSP00000364946:S336A	S	-	1	0	MKX	28004217	1.000000	0.71417	0.752000	0.31206	0.901000	0.52897	8.636000	0.91010	2.260000	0.74910	0.528000	0.53228	TCC	.		0.463	MKX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047332.3	NM_173576	
ZNF438	220929	broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	31139259	31139259	+	Missense_Mutation	SNP	C	C	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:31139259C>G	ENST00000361310.3	-	6	404	c.75G>C	c.(73-75)agG>agC	p.R25S	ZNF438_ENST00000331737.6_Missense_Mutation_p.R15S|ZNF438_ENST00000436087.2_Missense_Mutation_p.R25S|ZNF438_ENST00000442986.1_Missense_Mutation_p.R25S|ZNF438_ENST00000452305.1_Missense_Mutation_p.R15S|ZNF438_ENST00000538351.2_5'UTR|ZNF438_ENST00000444692.2_Missense_Mutation_p.R15S|ZNF438_ENST00000413025.1_Missense_Mutation_p.R25S|ZNF438_ENST00000375311.1_5'UTR			Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	25					negative regulation of transcription, DNA-templated (GO:0045892)|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(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				GCAAACCTTTCCTACTCTGTA	0.388																																					p.R25S		.											.	ZNF438-154	0			c.G75C						.						132.0	120.0	124.0					10																	31139259		2203	4300	6503	SO:0001583	missense	220929	exon7			ACCTTTCCTACTC	AK057323	CCDS7168.1, CCDS44369.1, CCDS53504.1	10p11.23	2006-02-15			ENSG00000183621	ENSG00000183621		"""Zinc fingers, C2H2-type"""	21029	protein-coding gene	gene with protein product							Standard	NM_182755		Approved	bA330O11.1	uc010qeb.2	Q7Z4V0	OTTHUMG00000017904	ENST00000361310.3:c.75G>C	10.37:g.31139259C>G	ENSP00000354663:p.Arg25Ser	132	2		133	64	NM_182755	0	0	0	0	0	A2A3J4|A8K9L5|Q5T426|Q658Q4|Q6ZN65	Missense_Mutation	SNP	ENST00000361310.3	37	CCDS7168.1	.	.	.	.	.	.	.	.	.	.	C	6.765	0.510015	0.12883	.	.	ENSG00000183621	ENST00000331737;ENST00000361310;ENST00000436087;ENST00000442986;ENST00000413025;ENST00000452305;ENST00000444692;ENST00000430896	T;T;T;T;T;T;T	0.57907	0.37;0.37;0.37;0.37;0.37;0.37;0.37	5.33	-0.285	0.12866	.	0.244953	0.39687	N	0.001287	T	0.28699	0.0711	N	0.14661	0.345	0.80722	D	1	B;B	0.15473	0.008;0.013	B;B	0.19391	0.011;0.025	T	0.02844	-1.1103	10	0.51188	T	0.08	-10.089	4.3482	0.11143	0.151:0.4078:0.0:0.4412	.	25;15	Q7Z4V0;Q7Z4V0-2	ZN438_HUMAN;.	S	15;25;25;25;25;15;15;25	ENSP00000333571:R15S;ENSP00000354663:R25S;ENSP00000406934:R25S;ENSP00000412363:R25S;ENSP00000387546:R25S;ENSP00000413060:R15S;ENSP00000410898:R15S	ENSP00000333571:R15S	R	-	3	2	ZNF438	31179265	0.011000	0.17503	0.072000	0.20136	0.159000	0.22180	-0.572000	0.05881	-0.006000	0.14370	0.655000	0.94253	AGG	.		0.388	ZNF438-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277006.1	NM_182755	
FZD8	8325	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	10	35929513	35929513	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:35929513C>T	ENST00000374694.1	-	1	849	c.845G>A	c.(844-846)gGc>gAc	p.G282D	MIR4683_ENST00000579659.1_RNA	NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN	frizzled class receptor 8	282					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|gonad development (GO:0008406)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|T cell differentiation in thymus (GO:0033077)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						CGACCACAGGCCGATCCAGAA	0.602																																					p.G282D		.											.	FZD8-612	0			c.G845A						.						50.0	46.0	47.0					10																	35929513		2202	4300	6502	SO:0001583	missense	8325	exon1			CACAGGCCGATCC	AB043703	CCDS7192.1	10p11.2	2014-01-29	2014-01-29		ENSG00000177283	ENSG00000177283		"""GPCR / Class F : Frizzled receptors"""	4046	protein-coding gene	gene with protein product		606146	"""frizzled (Drosophila) homolog 8"", ""frizzled homolog 8 (Drosophila)"", ""frizzled 8, seven transmembrane spanning receptor"", ""frizzled family receptor 8"""			11295046	Standard	NM_031866		Approved		uc001iyz.1	Q9H461	OTTHUMG00000017956	ENST00000374694.1:c.845G>A	10.37:g.35929513C>T	ENSP00000363826:p.Gly282Asp	140	1		185	91	NM_031866	0	0	3	7	4		Missense_Mutation	SNP	ENST00000374694.1	37	CCDS7192.1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.296747	0.60086	.	.	ENSG00000177283	ENST00000374694	D	0.85013	-1.93	3.01	2.04	0.26737	GPCR, family 2-like (1);	0.076883	0.50627	U	0.000104	D	0.92580	0.7643	M	0.91920	3.255	0.53005	D	0.99996	D	0.76494	0.999	D	0.76575	0.988	D	0.92281	0.5833	10	0.72032	D	0.01	.	10.7263	0.46070	0.0:0.803:0.1969:0.0	.	282	Q9H461	FZD8_HUMAN	D	282	ENSP00000363826:G282D	ENSP00000363826:G282D	G	-	2	0	FZD8	35969519	1.000000	0.71417	0.990000	0.47175	0.819000	0.46315	4.767000	0.62286	0.539000	0.28788	0.289000	0.19496	GGC	.		0.602	FZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047575.2	NM_031866	
ANKRD30A	91074	broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	37442574	37442574	+	Missense_Mutation	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:37442574A>G	ENST00000602533.1	+	13	1713	c.1614A>G	c.(1612-1614)atA>atG	p.I538M	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.I538M|ANKRD30A_ENST00000374660.1_Missense_Mutation_p.I538M			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	594					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						TAGATAAAATAAATGGAAAAT	0.323																																					p.I538M		.											.	ANKRD30A-161	0			c.A1614G						.						111.0	113.0	112.0					10																	37442574		1787	4052	5839	SO:0001583	missense	91074	exon13			TAAAATAAATGGA	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.1614A>G	10.37:g.37442574A>G	ENSP00000473551:p.Ile538Met	390	1		401	63	NM_052997	0	0	0	0	0	Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37		.	.	.	.	.	.	.	.	.	.	.	6.726	0.502639	0.12822	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.05996	3.36;3.36	1.71	1.71	0.24356	.	.	.	.	.	T	0.05410	0.0143	L	0.38175	1.15	0.09310	N	1	B	0.29432	0.244	B	0.26969	0.075	T	0.34800	-0.9814	9	0.56958	D	0.05	.	5.5282	0.16970	1.0:0.0:0.0:0.0	.	594	Q9BXX3	AN30A_HUMAN	M	538	ENSP00000354432:I538M;ENSP00000363792:I538M	ENSP00000354432:I538M	I	+	3	3	ANKRD30A	37482580	0.012000	0.17670	0.002000	0.10522	0.002000	0.02628	1.069000	0.30641	1.050000	0.40346	0.315000	0.21342	ATA	.		0.323	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997	
ANKRD30A	91074	broad.mit.edu	37	10	37478469	37478469	+	Missense_Mutation	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:37478469A>G	ENST00000602533.1	+	25	2427	c.2328A>G	c.(2326-2328)atA>atG	p.I776M	ANKRD30A_ENST00000475522.1_3'UTR|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.I776M|ANKRD30A_ENST00000374660.1_Missense_Mutation_p.I895M			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	832					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						TAGATAAAATAAATGGAAAAT	0.308																																					p.I776M		.											.	ANKRD30A-161	0			c.A2328G						.						9.0	8.0	8.0					10																	37478469		334	875	1209	SO:0001583	missense	91074	exon25			TAAAATAAATGGA	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.2328A>G	10.37:g.37478469A>G	ENSP00000473551:p.Ile776Met	148	0		136	32	NM_052997	0	0	0	0	0	Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37		.	.	.	.	.	.	.	.	.	.	.	1.022	-0.684568	0.03353	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.06142	3.34;3.34	0.746	-1.49	0.08718	.	.	.	.	.	T	0.03651	0.0104	L	0.29908	0.895	0.09310	N	1	P	0.46277	0.875	B	0.35240	0.198	T	0.31052	-0.9957	9	0.49607	T	0.09	.	4.75	0.13056	0.4765:0.5235:0.0:0.0	.	832	Q9BXX3	AN30A_HUMAN	M	776;895	ENSP00000354432:I776M;ENSP00000363792:I895M	ENSP00000354432:I776M	I	+	3	3	ANKRD30A	37518475	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	0.725000	0.25970	-1.283000	0.02393	-0.902000	0.02854	ATA	.		0.308	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997	
ANKRD30A	91074	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	37508025	37508025	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:37508025G>A	ENST00000602533.1	+	34	3316	c.3217G>A	c.(3217-3219)Gaa>Aaa	p.E1073K	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E1073K|ANKRD30A_ENST00000374660.1_Missense_Mutation_p.E1192K			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1129					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						CCAGGAAAAGGAAAATAAATA	0.318																																					p.E1073K		.											.	ANKRD30A-161	0			c.G3217A						.						76.0	77.0	76.0					10																	37508025		1812	4065	5877	SO:0001583	missense	91074	exon34			GAAAAGGAAAATA	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.3217G>A	10.37:g.37508025G>A	ENSP00000473551:p.Glu1073Lys	212	0		230	94	NM_052997	0	0	0	0	0	Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37		.	.	.	.	.	.	.	.	.	.	g	6.707	0.499046	0.12762	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.27720	1.65;1.65	2.81	1.89	0.25635	.	.	.	.	.	T	0.40094	0.1103	M	0.81112	2.525	0.29020	N	0.886339	P	0.36144	0.539	B	0.43018	0.405	T	0.37150	-0.9718	9	0.52906	T	0.07	.	7.2917	0.26370	0.1415:0.0:0.8585:0.0	.	1129	Q9BXX3	AN30A_HUMAN	K	1073;1192	ENSP00000354432:E1073K;ENSP00000363792:E1192K	ENSP00000354432:E1073K	E	+	1	0	ANKRD30A	37548031	1.000000	0.71417	0.053000	0.19242	0.004000	0.04260	4.169000	0.58223	0.384000	0.24942	-0.385000	0.06624	GAA	.		0.318	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997	
ALOX5	240	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	10	45869760	45869760	+	Silent	SNP	C	C	T	rs372587191		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:45869760C>T	ENST00000374391.2	+	1	86	c.33C>T	c.(31-33)ggC>ggT	p.G11G	ALOX5_ENST00000542434.1_Silent_p.G11G	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	11	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				arachidonic acid metabolic process (GO:0019369)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|leukotriene production involved in inflammatory response (GO:0002540)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nuclear envelope (GO:0005635)|nuclear envelope lumen (GO:0005641)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)	arachidonate 5-lipoxygenase activity (GO:0004051)|iron ion binding (GO:0005506)			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Aminosalicylic Acid(DB00233)|Balsalazide(DB01014)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Mesalazine(DB00244)|Minocycline(DB01017)|Montelukast(DB00471)|Sulfasalazine(DB00795)|Vitamin E(DB00163)|Zileuton(DB00744)	TGGCCACTGGCAGCCAGTGGT	0.697																																					p.G11G		.											.	ALOX5-228	0			c.C33T						.	C		0,4218		0,0,2109	20.0	14.0	16.0		33	2.8	1.0	10		16	1,8277		0,1,4138	no	coding-synonymous	ALOX5	NM_000698.2		0,1,6247	TT,TC,CC		0.0121,0.0,0.0080		11/675	45869760	1,12495	2109	4139	6248	SO:0001819	synonymous_variant	240	exon1			CACTGGCAGCCAG	J03571	CCDS7212.1, CCDS58078.1	10q11.2	2008-03-18			ENSG00000012779	ENSG00000012779	1.13.11.34	"""Arachidonate lipoxygenases"""	435	protein-coding gene	gene with protein product		152390				2565035	Standard	NM_001256153		Approved	5-LOX	uc001jce.4	P09917	OTTHUMG00000018081	ENST00000374391.2:c.33C>T	10.37:g.45869760C>T		76	0		158	48	NM_000698	0	0	0	0	0	B7ZLS0|E5FPY5|E5FPY7|E5FPY8|Q5JQ14	Silent	SNP	ENST00000374391.2	37	CCDS7212.1																																																																																			.		0.697	ALOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047780.1		
ALOX5	240	broad.mit.edu;bcgsc.ca	37	10	45939230	45939230	+	Missense_Mutation	SNP	T	T	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:45939230T>A	ENST00000374391.2	+	12	1681	c.1628T>A	c.(1627-1629)gTg>gAg	p.V543E	RP11-67C2.2_ENST00000435635.1_RNA|ALOX5_ENST00000542434.1_Missense_Mutation_p.V543E	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	543	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|leukotriene production involved in inflammatory response (GO:0002540)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nuclear envelope (GO:0005635)|nuclear envelope lumen (GO:0005641)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)	arachidonate 5-lipoxygenase activity (GO:0004051)|iron ion binding (GO:0005506)			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Aminosalicylic Acid(DB00233)|Balsalazide(DB01014)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Mesalazine(DB00244)|Minocycline(DB01017)|Montelukast(DB00471)|Sulfasalazine(DB00795)|Vitamin E(DB00163)|Zileuton(DB00744)	CTGACCGTGGTGATCTTCACC	0.701																																					p.V543E		.											.	ALOX5-228	0			c.T1628A						.						39.0	38.0	38.0					10																	45939230		2202	4300	6502	SO:0001583	missense	240	exon12			CCGTGGTGATCTT	J03571	CCDS7212.1, CCDS58078.1	10q11.2	2008-03-18			ENSG00000012779	ENSG00000012779	1.13.11.34	"""Arachidonate lipoxygenases"""	435	protein-coding gene	gene with protein product		152390				2565035	Standard	NM_001256153		Approved	5-LOX	uc001jce.4	P09917	OTTHUMG00000018081	ENST00000374391.2:c.1628T>A	10.37:g.45939230T>A	ENSP00000363512:p.Val543Glu	62	1		142	83	NM_000698	0	0	0	0	0	B7ZLS0|E5FPY5|E5FPY7|E5FPY8|Q5JQ14	Missense_Mutation	SNP	ENST00000374391.2	37	CCDS7212.1	.	.	.	.	.	.	.	.	.	.	T	32	5.175030	0.94807	.	.	ENSG00000012779	ENST00000542434;ENST00000374391	D;D	0.91577	-2.87;-2.87	5.04	5.04	0.67666	Lipoxygenase, C-terminal (3);	0.422270	0.24922	N	0.034529	D	0.95439	0.8519	M	0.87547	2.89	0.80722	D	1	D;P;D	0.89917	1.0;0.953;0.999	D;P;D	0.80764	0.994;0.713;0.976	D	0.95914	0.8925	10	0.87932	D	0	-21.2458	12.784	0.57493	0.0:0.0:0.0:1.0	.	543;511;543	B7ZLS0;E5FPY8;P09917	.;.;LOX5_HUMAN	E	543	ENSP00000437634:V543E;ENSP00000363512:V543E	ENSP00000363512:V543E	V	+	2	0	ALOX5	45259236	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	6.119000	0.71590	2.118000	0.64928	0.528000	0.53228	GTG	.		0.701	ALOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047780.1		
MARCH8	220972	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	46028623	46028623	+	Missense_Mutation	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:46028623A>G	ENST00000319836.3	-	2	786	c.37T>C	c.(37-39)Tcc>Ccc	p.S13P	MARCH8_ENST00000395769.2_Missense_Mutation_p.S13P|MARCH8_ENST00000453424.2_Missense_Mutation_p.S13P|MARCH8_ENST00000395771.3_Missense_Mutation_p.S13P	NM_145021.4	NP_659458.2	Q5T0T0	MARH8_HUMAN	membrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase	13					immune system process (GO:0002376)|protein polyubiquitination (GO:0000209)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	12						GCATCCTGGGATGGAATGGCA	0.448																																					p.S13P	NSCLC(102;658 1594 2173 16344 34808)	.											.	MARCH8-68	0			c.T37C						.						116.0	106.0	109.0					10																	46028623		2203	4300	6503	SO:0001583	missense	220972	exon2			CCTGGGATGGAAT	AL833316	CCDS7213.1, CCDS60519.1	10q11.22	2013-01-09	2012-02-23	2005-01-27	ENSG00000165406	ENSG00000165406		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	23356	protein-coding gene	gene with protein product		613335	"""c-mir, cellular modulator of immune recognition"", ""membrane-associated ring finger (C3HC4) 8"""	MIR		12582153, 14722266	Standard	XM_005271804		Approved	c-MIR, MARCH-VIII, RNF178	uc001jch.2	Q5T0T0	OTTHUMG00000019345	ENST00000319836.3:c.37T>C	10.37:g.46028623A>G	ENSP00000317087:p.Ser13Pro	79	0		117	50	NM_001002266	0	0	4	5	1	B2R8E7|H0Y7C6|Q5T0S8|Q8TC72	Missense_Mutation	SNP	ENST00000319836.3	37	CCDS7213.1	.	.	.	.	.	.	.	.	.	.	A	14.17	2.454411	0.43634	.	.	ENSG00000165406	ENST00000395771;ENST00000319836;ENST00000395769;ENST00000453980	T;T;T	0.12147	2.71;2.71;2.71	4.83	-0.676	0.11361	.	.	.	.	.	T	0.04952	0.0133	N	0.08118	0	0.21950	N	0.999458	B	0.27068	0.167	B	0.23419	0.046	T	0.40701	-0.9549	9	0.23302	T	0.38	.	1.834	0.03136	0.3255:0.4068:0.1079:0.1598	.	13	Q5T0T0	MARH8_HUMAN	P	13	ENSP00000379118:S13P;ENSP00000317087:S13P;ENSP00000379116:S13P	ENSP00000317087:S13P	S	-	1	0	MARCH8	45348629	0.632000	0.27172	0.931000	0.37212	0.998000	0.95712	-0.023000	0.12456	-0.098000	0.12285	0.460000	0.39030	TCC	.		0.448	MARCH8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051217.1	NM_145021	
GPRIN2	9721	broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	47000008	47000008	+	Silent	SNP	G	G	A	rs111800394		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:47000008G>A	ENST00000374317.1	+	3	1401	c.1128G>A	c.(1126-1128)ccG>ccA	p.P376P	GPRIN2_ENST00000374314.4_Silent_p.P376P	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	376										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						AGGAGGTGCCGTCCCCTGTGC	0.657													G|||	1	0.000199681	0.0	0.0	5008	,	,		35685	0.0		0.001	False		,,,				2504	0.0				p.P376P		.											.	GPRIN2-90	0			c.G1128A						.						164.0	140.0	148.0					10																	47000008		2203	4300	6503	SO:0001819	synonymous_variant	9721	exon3			GGTGCCGTCCCCT	BC011672	CCDS73101.1	10q11.22	2006-08-24	2006-08-24	2006-08-24	ENSG00000204175	ENSG00000204175			23730	protein-coding gene	gene with protein product		611240	"""KIAA0514"""	KIAA0514		9628581	Standard	NM_014696		Approved	MGC15171	uc001jec.3	O60269	OTTHUMG00000018107	ENST00000374317.1:c.1128G>A	10.37:g.47000008G>A		123	1		200	49	NM_014696	0	0	0	0	0	Q5SVF0	Silent	SNP	ENST00000374317.1	37	CCDS31192.1																																																																																			G|0.500;A|0.500		0.657	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047836.1	NM_014696	
WDFY4	57705	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	49951020	49951020	+	Missense_Mutation	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:49951020T>C	ENST00000325239.5	+	11	1913	c.1886T>C	c.(1885-1887)cTc>cCc	p.L629P	WDFY4_ENST00000413659.2_Missense_Mutation_p.L629P	NM_020945.1	NP_065996.1	Q6ZS81	WDFY4_HUMAN	WDFY family member 4	629						integral component of membrane (GO:0016021)				NS(2)|breast(5)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(3)|pancreas(2)|prostate(5)|skin(6)|stomach(1)	48						CAGTCTCTGCTCCGGATCCTG	0.572																																					p.L629P		.											.	WDFY4-22	0			c.T1886C						.						47.0	41.0	42.0					10																	49951020		692	1591	2283	SO:0001583	missense	57705	exon12			CTCTGCTCCGGAT	AK074085	CCDS44385.1	10q11.23	2013-01-10			ENSG00000128815	ENSG00000128815		"""WD repeat domain containing"""	29323	protein-coding gene	gene with protein product		613316	"""chromosome 10 open reading frame 64"""	C10orf64		10997877	Standard	NM_020945		Approved	KIAA1607, Em:AC060234.3, FLJ45748	uc001jha.4	Q6ZS81	OTTHUMG00000018180	ENST00000325239.5:c.1886T>C	10.37:g.49951020T>C	ENSP00000320563:p.Leu629Pro	32	0		26	7	NM_020945	0	0	0	0	0	B9ZVP2|Q86WZ4|Q8N4A3|Q8TEN7|Q96BE1|Q9H7H8|Q9HCG5	Missense_Mutation	SNP	ENST00000325239.5	37	CCDS44385.1	.	.	.	.	.	.	.	.	.	.	T	16.36	3.102178	0.56183	.	.	ENSG00000128815	ENST00000454161;ENST00000426033;ENST00000325239;ENST00000413659	T;T	0.51071	0.72;0.72	5.38	4.17	0.49024	Armadillo-like helical (1);Armadillo-type fold (1);	.	.	.	.	T	0.62356	0.2421	M	0.76002	2.32	0.38012	D	0.934576	D	0.71674	0.998	D	0.63488	0.915	T	0.67284	-0.5709	8	.	.	.	.	9.1807	0.37141	0.2737:0.0:0.0:0.7263	.	629	Q6ZS81	WDFY4_HUMAN	P	638;629;629;629	ENSP00000320563:L629P;ENSP00000403789:L629P	.	L	+	2	0	WDFY4	49621026	0.935000	0.31712	0.855000	0.33649	0.997000	0.91878	2.630000	0.46494	2.170000	0.68504	0.460000	0.39030	CTC	.		0.572	WDFY4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_033379	
WDFY4	57705	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	49951058	49951058	+	Nonsense_Mutation	SNP	A	A	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:49951058A>T	ENST00000325239.5	+	11	1951	c.1924A>T	c.(1924-1926)Aga>Tga	p.R642*	WDFY4_ENST00000413659.2_Nonsense_Mutation_p.R642*	NM_020945.1	NP_065996.1	Q6ZS81	WDFY4_HUMAN	WDFY family member 4	642						integral component of membrane (GO:0016021)				NS(2)|breast(5)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(3)|pancreas(2)|prostate(5)|skin(6)|stomach(1)	48						TGCTGCCTTCAGAGTCTCCAG	0.592																																					p.R642X		.											.	WDFY4-22	0			c.A1924T						.						43.0	40.0	41.0					10																	49951058		692	1591	2283	SO:0001587	stop_gained	57705	exon12			GCCTTCAGAGTCT	AK074085	CCDS44385.1	10q11.23	2013-01-10			ENSG00000128815	ENSG00000128815		"""WD repeat domain containing"""	29323	protein-coding gene	gene with protein product		613316	"""chromosome 10 open reading frame 64"""	C10orf64		10997877	Standard	NM_020945		Approved	KIAA1607, Em:AC060234.3, FLJ45748	uc001jha.4	Q6ZS81	OTTHUMG00000018180	ENST00000325239.5:c.1924A>T	10.37:g.49951058A>T	ENSP00000320563:p.Arg642*	57	0		38	18	NM_020945	0	0	0	0	0	B9ZVP2|Q86WZ4|Q8N4A3|Q8TEN7|Q96BE1|Q9H7H8|Q9HCG5	Nonsense_Mutation	SNP	ENST00000325239.5	37	CCDS44385.1	.	.	.	.	.	.	.	.	.	.	A	39	7.512161	0.98329	.	.	ENSG00000128815	ENST00000454161;ENST00000426033;ENST00000325239;ENST00000413659	.	.	.	5.38	-0.99	0.10238	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6014	0.76628	0.3782:0.6218:0.0:0.0	.	.	.	.	X	651;642;642;642	.	.	R	+	1	2	WDFY4	49621064	0.998000	0.40836	0.984000	0.44739	0.966000	0.64601	0.678000	0.25277	-0.335000	0.08451	0.460000	0.39030	AGA	.		0.592	WDFY4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_033379	
PCDH15	65217	ucsc.edu;bcgsc.ca	37	10	55566476	55566476	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:55566476C>T	ENST00000373965.2	-	36	5312	c.4918G>A	c.(4918-4920)Gtt>Att	p.V1640I	PCDH15_ENST00000414778.1_Missense_Mutation_p.V1637I	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					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)				TCCTGTTCAACTGTGCTTTTC	0.468										HNSCC(58;0.16)																											.		.											.	PCDH15-193	0			.						.						352.0	298.0	315.0					10																	55566476		1568	3582	5150	SO:0001583	missense	65217	.			GTTCAACTGTGCT	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	ENST00000373965.2:c.4918G>A	10.37:g.55566476C>T	ENSP00000363076:p.Val1640Ile	212	2		231	78	.	0	0	0	0	0	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000373965.2	37		.	.	.	.	.	.	.	.	.	.	C	12.64	1.997798	0.35226	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746	T;T	0.56941	0.43;0.48	6.02	5.12	0.69794	.	.	.	.	.	T	0.39733	0.1089	N	0.22421	0.69	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.14643	-1.0465	9	0.30078	T	0.28	.	14.8192	0.70059	0.0:0.9306:0.0:0.0694	.	1631;1637	C6ZEF7;C9J4F3	.;.	I	1640;1637;1633	ENSP00000363076:V1640I;ENSP00000410304:V1637I	ENSP00000363076:V1640I	V	-	1	0	PCDH15	55236482	1.000000	0.71417	0.886000	0.34754	0.995000	0.86356	4.384000	0.59607	1.551000	0.49450	0.655000	0.94253	GTT	.		0.468	PCDH15-008	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000291336.1	NM_033056	
C10orf107	219621	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	63441022	63441022	+	Missense_Mutation	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:63441022T>C	ENST00000330194.2	+	2	327	c.22T>C	c.(22-24)Tat>Cat	p.Y8H		NM_173554.2	NP_775825.1	Q8IVU9	CJ107_HUMAN	chromosome 10 open reading frame 107	8										breast(1)|kidney(1)|lung(4)|prostate(1)|skin(1)	8	Prostate(12;0.016)					TATTATTCAGTATTCAAAATT	0.269																																					p.Y8H		.											.	C10orf107-90	0			c.T22C						.						83.0	87.0	85.0					10																	63441022		2197	4271	6468	SO:0001583	missense	219621	exon2			ATTCAGTATTCAA	BC041932	CCDS7262.1	10q21.3	2012-06-01			ENSG00000183346	ENSG00000183346			28678	protein-coding gene	gene with protein product						12477932	Standard	NM_173554		Approved	bA63A2.1, Em:AC022398.2, MGC44593	uc010qik.2	Q8IVU9	OTTHUMG00000018295	ENST00000330194.2:c.22T>C	10.37:g.63441022T>C	ENSP00000328698:p.Tyr8His	34	0		40	23	NM_173554	0	0	0	0	0	Q5T1B8	Missense_Mutation	SNP	ENST00000330194.2	37	CCDS7262.1	.	.	.	.	.	.	.	.	.	.	T	2.738	-0.262770	0.05754	.	.	ENSG00000183346	ENST00000330194	.	.	.	5.56	-4.71	0.03279	.	1.579180	0.03592	N	0.232018	T	0.50973	0.1647	M	0.72118	2.19	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.48269	-0.9050	9	0.40728	T	0.16	0.1162	11.0092	0.47652	0.1378:0.6907:0.0:0.1715	.	8	Q8IVU9	CJ107_HUMAN	H	8	.	ENSP00000328698:Y8H	Y	+	1	0	C10orf107	63111028	0.000000	0.05858	0.001000	0.08648	0.196000	0.23810	-0.027000	0.12371	-0.787000	0.04510	0.454000	0.30748	TAT	.		0.269	C10orf107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048228.2	NM_173554	
ZNF365	22891	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	10	64159513	64159513	+	Frame_Shift_Del	DEL	A	A	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:64159513delA	ENST00000395254.3	+	5	1469	c.1189delA	c.(1189-1191)aaafs	p.K399fs	ZNF365_ENST00000466727.1_3'UTR|ZNF365_ENST00000395255.3_Intron|ZNF365_ENST00000410046.3_Intron	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365	0										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					CAAAATGGCTAAAAAAAAGCC	0.527																																					p.K397fs		.											.	ZNF365-92	0			c.1189delA						.						45.0	43.0	44.0					10																	64159513		2203	4300	6503	SO:0001589	frameshift_variant	22891	exon5			ATGGCTAAAAAAA	AB020651	CCDS7264.1, CCDS7265.1, CCDS31209.1, CCDS41531.1	10q21.2	2008-10-28			ENSG00000138311	ENSG00000138311		"""Zinc fingers, C2H2-type"""	18194	protein-coding gene	gene with protein product	"""Talanin"""	607818				10048485, 12740763	Standard	NM_199450		Approved	KIAA0844, UAN	uc001jmc.2	Q70YC4	OTTHUMG00000018302	ENST00000395254.3:c.1189delA	10.37:g.64159513delA	ENSP00000378674:p.Lys399fs	91	0		109	49	NM_014951	0	0	0	0	0		Frame_Shift_Del	DEL	ENST00000395254.3	37	CCDS31209.1																																																																																			.		0.527	ZNF365-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048238.2	NM_014951	
DNA2	1763	hgsc.bcm.edu;broad.mit.edu	37	10	70182521	70182521	+	Frame_Shift_Del	DEL	A	A	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:70182521delA	ENST00000358410.3	-	15	2385	c.2335delT	c.(2335-2337)tcafs	p.S779fs	DNA2_ENST00000399179.2_Intron|DNA2_ENST00000399180.2_Frame_Shift_Del_p.S865fs	NM_001080449.2	NP_001073918.2	P51530	DNA2_HUMAN	DNA replication helicase/nuclease 2	779	Helicase activity. {ECO:0000250}.				ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication, Okazaki fragment processing (GO:0033567)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|mitochondrial DNA repair (GO:0043504)|mitochondrial DNA replication (GO:0006264)|mitotic cell cycle (GO:0000278)|positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|5'-flap endonuclease activity (GO:0017108)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|nuclease activity (GO:0004518)|single-stranded DNA-dependent ATPase activity (GO:0043142)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)	p.S779fs*6(1)|p.S865fs*6(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						AATCTCCGTGAAAAAAAAAGG	0.403																																					p.S779fs		.											.	.	2	Deletion - Frameshift(2)	large_intestine(2)	c.2335delT						.			36,47,3383		0,0,36,2,43,1652	30.0	31.0	31.0			5.7	1.0	10		32	74,113,7597		0,0,74,8,97,3713	no	codingComplex	DNA2	NM_001080449.2		0,0,110,10,140,5365	A1A1,A1A2,A1R,A2A2,A2R,RR		2.4024,2.3947,2.4			70182521	110,160,10980	1797	4062	5859	SO:0001589	frameshift_variant	1763	exon15			TCCGTGAAAAAAA	D42046	CCDS44415.1, CCDS44415.2	10q21.3-q22.1	2013-05-13	2013-05-13	2008-01-08	ENSG00000138346	ENSG00000138346			2939	protein-coding gene	gene with protein product		601810	"""DNA2 DNA replication helicase 2-like (yeast)"", ""DNA replication helicase 2 homolog (yeast)"""	DNA2L		8938459, 17032657, 23352259	Standard	NM_001080449		Approved	KIAA0083	uc031pvh.1	P51530	OTTHUMG00000018352	ENST00000358410.3:c.2335delT	10.37:g.70182521delA	ENSP00000351185:p.Ser779fs	63	0		73	32	NM_001080449	0	0	0	0	0	Q2NKM1|Q5TC49|Q5TC50|Q6P455|Q6PI80|Q7Z6H9|Q8N346	Frame_Shift_Del	DEL	ENST00000358410.3	37																																																																																				.		0.403	DNA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048334.2		
CCAR1	55749	broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	70496802	70496802	+	Silent	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:70496802A>G	ENST00000265872.6	+	3	362	c.243A>G	c.(241-243)caA>caG	p.Q81Q	CCAR1_ENST00000543719.1_Silent_p.Q81Q|Y_RNA_ENST00000352915.2_RNA|CCAR1_ENST00000535016.1_Silent_p.Q81Q	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	81					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						CTGCATTACAACAGGTAAATC	0.398																																					p.Q81Q		.											.	CCAR1-159	0			c.A243G						.						31.0	30.0	30.0					10																	70496802		2203	4300	6503	SO:0001819	synonymous_variant	55749	exon3			ATTACAACAGGTA	AY249140	CCDS7282.1, CCDS60547.1	10q22.1	2004-02-19			ENSG00000060339	ENSG00000060339			24236	protein-coding gene	gene with protein product		612569				12816952	Standard	NM_018237		Approved	FLJ10590, CARP-1, CARP1	uc001joo.3	Q8IX12	OTTHUMG00000018361	ENST00000265872.6:c.243A>G	10.37:g.70496802A>G		187	1		199	70	NM_018237	0	0	0	0	0	A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	Silent	SNP	ENST00000265872.6	37	CCDS7282.1																																																																																			.		0.398	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048356.2	NM_018237	
CCAR1	55749	broad.mit.edu	37	10	70509285	70509286	+	Frame_Shift_Del	DEL	GA	GA	-	rs147413396		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:70509285_70509286delGA	ENST00000265872.6	+	10	1080_1081	c.961_962delGA	c.(961-963)gagfs	p.E321fs	CCAR1_ENST00000543719.1_Frame_Shift_Del_p.E306fs|CCAR1_ENST00000535016.1_Frame_Shift_Del_p.E306fs	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	321	Arg-rich.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						TTTCAGTCGTGAGAGAGAGAGA	0.391																																					p.321_321del		.											.	CCAR1-159	0			c.961_962del						.																																			SO:0001589	frameshift_variant	55749	exon10			AGTCGTGAGAGAG	AY249140	CCDS7282.1, CCDS60547.1	10q22.1	2004-02-19			ENSG00000060339	ENSG00000060339			24236	protein-coding gene	gene with protein product		612569				12816952	Standard	NM_018237		Approved	FLJ10590, CARP-1, CARP1	uc001joo.3	Q8IX12	OTTHUMG00000018361	ENST00000265872.6:c.961_962delGA	10.37:g.70509295_70509296delGA	ENSP00000265872:p.Glu321fs	18	0		24	7	NM_018237	0	0	0	0	0	A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	Frame_Shift_Del	DEL	ENST00000265872.6	37	CCDS7282.1																																																																																			.		0.391	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048356.2	NM_018237	
C10orf35	219738	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	71391540	71391540	+	Missense_Mutation	SNP	A	A	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:71391540A>T	ENST00000373279.4	+	3	200	c.41A>T	c.(40-42)gAc>gTc	p.D14V	C10orf35_ENST00000491890.1_3'UTR	NM_145306.2	NP_660349.1	Q96D05	CJ035_HUMAN	chromosome 10 open reading frame 35	14						integral component of membrane (GO:0016021)				breast(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5						GTGCAGGATGACGACCCCCGA	0.597																																					p.D14V		.											.	C10orf35-92	0			c.A41T						.						163.0	120.0	135.0					10																	71391540		2203	4300	6503	SO:0001583	missense	219738	exon3			AGGATGACGACCC	BC013587	CCDS7295.1	10q22.2	2003-11-21			ENSG00000171224	ENSG00000171224			23519	protein-coding gene	gene with protein product						12477932	Standard	NM_145306		Approved		uc001jpq.4	Q96D05	OTTHUMG00000018383	ENST00000373279.4:c.41A>T	10.37:g.71391540A>T	ENSP00000362376:p.Asp14Val	181	0		254	102	NM_145306	0	0	10	26	16		Missense_Mutation	SNP	ENST00000373279.4	37	CCDS7295.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.137147	0.77775	.	.	ENSG00000171224	ENST00000373279;ENST00000421716	.	.	.	5.42	5.42	0.78866	.	0.000000	0.64402	D	0.000005	T	0.76765	0.4033	M	0.65498	2.005	0.58432	D	0.999999	D	0.76494	0.999	D	0.83275	0.996	T	0.79460	-0.1794	9	0.87932	D	0	-0.9712	13.408	0.60924	1.0:0.0:0.0:0.0	.	14	Q96D05	CJ035_HUMAN	V	14;56	.	ENSP00000362376:D14V	D	+	2	0	C10orf35	71061546	0.999000	0.42202	0.985000	0.45067	0.989000	0.77384	5.743000	0.68655	2.063000	0.61619	0.402000	0.26972	GAC	.		0.597	C10orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048454.1	NM_145306	
PPA1	5464	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	10	71969033	71969033	+	Missense_Mutation	SNP	T	T	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:71969033T>A	ENST00000373232.3	-	8	752	c.653A>T	c.(652-654)gAt>gTt	p.D218V		NM_021129.3	NP_066952.1	Q15181	IPYR_HUMAN	pyrophosphatase (inorganic) 1	218					diphosphate metabolic process (GO:0071344)|gene expression (GO:0010467)|phosphate-containing compound metabolic process (GO:0006796)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	inorganic diphosphatase activity (GO:0004427)|magnesium ion binding (GO:0000287)			breast(2)|endometrium(1)|large_intestine(2)|lung(3)|skin(2)	10						TTTAATAATATCAATGGCAAA	0.323																																					p.D218V		.											.	PPA1-153	0			c.A653T						.						107.0	100.0	102.0					10																	71969033		2203	4296	6499	SO:0001583	missense	5464	exon8			ATAATATCAATGG	AF154065	CCDS7299.1	10q11.1-q24	2012-10-02	2005-10-07	2005-10-07	ENSG00000180817	ENSG00000180817	3.6.1.1		9226	protein-coding gene	gene with protein product	"""cytosolic inorganic pyrophosphatase"", ""inorganic pyrophosphatase 1"", ""pyrophosphate phospho-hydrolase"""	179030	"""pyrophosphatase (inorganic)"""	PP		10542310, 975879	Standard	NM_021129		Approved	SID6-8061, Ppase, IOPPP, PP1	uc001jqv.1	Q15181	OTTHUMG00000018399	ENST00000373232.3:c.653A>T	10.37:g.71969033T>A	ENSP00000362329:p.Asp218Val	84	0		74	28	NM_021129	0	0	281	489	208	Q2M348|Q5SQT7|Q6P7P4|Q9UQJ5|Q9Y5B1	Missense_Mutation	SNP	ENST00000373232.3	37	CCDS7299.1	.	.	.	.	.	.	.	.	.	.	T	15.54	2.864132	0.51482	.	.	ENSG00000180817	ENST00000373232	T	0.46063	0.88	5.24	4.08	0.47627	.	0.299637	0.41194	D	0.000925	T	0.46425	0.1392	M	0.70275	2.135	0.80722	D	1	B	0.16603	0.018	B	0.31686	0.134	T	0.45425	-0.9262	10	0.72032	D	0.01	-6.6671	11.2121	0.48804	0.0:0.0:0.1541:0.8459	.	218	Q15181	IPYR_HUMAN	V	218	ENSP00000362329:D218V	ENSP00000362329:D218V	D	-	2	0	PPA1	71639039	0.696000	0.27757	0.941000	0.38009	0.967000	0.64934	3.706000	0.54830	0.799000	0.34018	0.533000	0.62120	GAT	.		0.323	PPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048490.2	NM_021129	
ADAMTS14	140766	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	72434451	72434451	+	Silent	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:72434451C>T	ENST00000373207.1	+	2	222	c.222C>T	c.(220-222)ccC>ccT	p.P74P	ADAMTS14_ENST00000373208.1_Silent_p.P74P	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	74					collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						ACACGCCACCCACACTACCAC	0.667																																					p.P74P		.											.	ADAMTS14-232	0			c.C222T						.						45.0	39.0	41.0					10																	72434451		2203	4300	6503	SO:0001819	synonymous_variant	140766	exon2			GCCACCCACACTA	AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14899	protein-coding gene	gene with protein product		607506	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"""			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.222C>T	10.37:g.72434451C>T		64	0		75	32	NM_080722	0	0	0	0	0	Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Silent	SNP	ENST00000373207.1	37	CCDS7306.1																																																																																			.		0.667	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1	NM_080722	
CDH23	64072	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	73553114	73553114	+	Silent	SNP	G	G	A	rs142788731	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:73553114G>A	ENST00000224721.6	+	47	6449	c.6444G>A	c.(6442-6444)acG>acA	p.T2148T	CDH23_ENST00000398788.3_5'Flank	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2143	Cadherin 20. {ECO:0000255|PROSITE- ProRule:PRU00043}.		D -> N (in DFNB12). {ECO:0000269|PubMed:12522556}.		calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|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)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						ACAGGCTAACGGTGGTGGCCA	0.597													G|||	4	0.000798722	0.003	0.0	5008	,	,		18811	0.0		0.0	False		,,,				2504	0.0				p.T2143T		.											.	CDH23-563	0			c.G6429A						.	G		8,4168		0,8,2080	66.0	74.0	71.0		6429	-8.3	0.9	10	dbSNP_134	71	0,8438		0,0,4219	no	coding-synonymous	CDH23	NM_022124.5		0,8,6299	AA,AG,GG		0.0,0.1916,0.0634		2143/3355	73553114	8,12606	2088	4219	6307	SO:0001819	synonymous_variant	64072	exon46			GCTAACGGTGGTG	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.6444G>A	10.37:g.73553114G>A		147	0		196	84	NM_022124	0	0	0	0	0	C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Silent	SNP	ENST00000224721.6	37																																																																																				G|0.999;A|0.001		0.597	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836	
SYNPO2L	79933	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	75407283	75407283	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:75407283C>T	ENST00000394810.2	-	4	2276	c.2127G>A	c.(2125-2127)atG>atA	p.M709I	SYNPO2L_ENST00000372873.4_Missense_Mutation_p.M485I	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	709	Pro-rich.					cytoskeleton (GO:0005856)|nucleus (GO:0005634)|Z disc (GO:0030018)				breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					TCTTGGGAGCCATTGGAGGGG	0.622																																					p.M709I		.											.	SYNPO2L-91	0			c.G2127A						.						54.0	66.0	62.0					10																	75407283		2203	4300	6503	SO:0001583	missense	79933	exon4			GGGAGCCATTGGA	AK022983	CCDS7331.1, CCDS44438.1	10q22.3	2007-12-19			ENSG00000166317	ENSG00000166317			23532	protein-coding gene	gene with protein product							Standard	XM_005270158		Approved	FLJ12921	uc001jut.4	Q9H987	OTTHUMG00000018471	ENST00000394810.2:c.2127G>A	10.37:g.75407283C>T	ENSP00000378289:p.Met709Ile	23	0		35	14	NM_001114133	0	0	0	0	0	A5PKV9|Q68A20	Missense_Mutation	SNP	ENST00000394810.2	37	CCDS44438.1	.	.	.	.	.	.	.	.	.	.	C	8.007	0.756611	0.15846	.	.	ENSG00000166317	ENST00000372873;ENST00000394810	T;T	0.21734	1.99;2.32	4.86	4.86	0.63082	.	0.000000	0.53938	D	0.000058	T	0.16938	0.0407	L	0.36672	1.1	0.25444	N	0.988064	B;B	0.19200	0.008;0.034	B;B	0.19391	0.016;0.025	T	0.12734	-1.0536	10	0.16420	T	0.52	-11.4101	13.6725	0.62434	0.0:1.0:0.0:0.0	.	709;485	Q9H987;Q9H987-2	SYP2L_HUMAN;.	I	485;709	ENSP00000361964:M485I;ENSP00000378289:M709I	ENSP00000361964:M485I	M	-	3	0	SYNPO2L	75077289	0.002000	0.14202	0.866000	0.34008	0.448000	0.32197	0.870000	0.28010	2.679000	0.91253	0.561000	0.74099	ATG	.		0.622	SYNPO2L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316562.2	NM_024875	
SYNPO2L	79933	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	10	75408109	75408109	+	Missense_Mutation	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:75408109A>G	ENST00000394810.2	-	4	1450	c.1301T>C	c.(1300-1302)gTg>gCg	p.V434A	SYNPO2L_ENST00000372873.4_Missense_Mutation_p.V210A	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	434	Pro-rich.					cytoskeleton (GO:0005856)|nucleus (GO:0005634)|Z disc (GO:0030018)				breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					GGGTGGGAGCACAGCTGCCTC	0.667																																					p.V434A		.											.	SYNPO2L-91	0			c.T1301C						.						16.0	19.0	18.0					10																	75408109		2198	4293	6491	SO:0001583	missense	79933	exon4			GGGAGCACAGCTG	AK022983	CCDS7331.1, CCDS44438.1	10q22.3	2007-12-19			ENSG00000166317	ENSG00000166317			23532	protein-coding gene	gene with protein product							Standard	XM_005270158		Approved	FLJ12921	uc001jut.4	Q9H987	OTTHUMG00000018471	ENST00000394810.2:c.1301T>C	10.37:g.75408109A>G	ENSP00000378289:p.Val434Ala	19	0		20	8	NM_001114133	0	0	0	2	2	A5PKV9|Q68A20	Missense_Mutation	SNP	ENST00000394810.2	37	CCDS44438.1	.	.	.	.	.	.	.	.	.	.	A	0.010	-1.776517	0.00640	.	.	ENSG00000166317	ENST00000372873;ENST00000372872;ENST00000394810	T;T;T	0.22743	1.95;1.94;2.3	4.43	3.27	0.37495	.	1.409390	0.04554	N	0.390475	T	0.15782	0.0380	N	0.22421	0.69	0.09310	N	1	B;B	0.14438	0.009;0.01	B;B	0.13407	0.002;0.009	T	0.31833	-0.9929	10	0.12430	T	0.62	-2.1967	9.7949	0.40728	0.8265:0.1735:0.0:0.0	.	434;210	Q9H987;Q9H987-2	SYP2L_HUMAN;.	A	210;434;434	ENSP00000361964:V210A;ENSP00000361963:V434A;ENSP00000378289:V434A	ENSP00000361963:V434A	V	-	2	0	SYNPO2L	75078115	0.000000	0.05858	0.818000	0.32626	0.521000	0.34408	0.325000	0.19628	0.715000	0.32103	0.402000	0.26972	GTG	.		0.667	SYNPO2L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316562.2	NM_024875	
ZSWIM8	23053	hgsc.bcm.edu;bcgsc.ca	37	10	75560464	75560464	+	Frame_Shift_Del	DEL	C	C	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:75560464delC	ENST00000605216.1	+	24	5295	c.5078delC	c.(5077-5079)tccfs	p.S1693fs	ZSWIM8_ENST00000604729.1_Frame_Shift_Del_p.S1690fs|ZSWIM8_ENST00000603114.1_Frame_Shift_Del_p.S1652fs|ZSWIM8-AS1_ENST00000456638.2_RNA|ZSWIM8_ENST00000398706.2_Frame_Shift_Del_p.S1698fs|RP11-574K11.31_ENST00000603027.1_Intron|ZSWIM8_ENST00000604524.1_Frame_Shift_Del_p.S1511fs	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	1693							zinc ion binding (GO:0008270)										TTCTCCCGCTCCCCCCCCTAC	0.607																																					p.S1698fs		.											.	.	0			c.5093delC						.						128.0	134.0	132.0					10																	75560464		2002	4146	6148	SO:0001589	frameshift_variant	23053	exon24			CCCGCTCCCCCCC	BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"""Zinc fingers, SWIM-type"""	23528	protein-coding gene	gene with protein product			"""KIAA0913"""	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.5078delC	10.37:g.75560464delC	ENSP00000474748:p.Ser1693fs	126	1		217	74	NM_015037	0	0	0	0	0	B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Frame_Shift_Del	DEL	ENST00000605216.1	37																																																																																				.		0.607	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468545.1	NM_001242487	
NDST2	8509	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	75566103	75566103	+	Missense_Mutation	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:75566103A>G	ENST00000309979.6	-	6	1934	c.1378T>C	c.(1378-1380)Tat>Cat	p.Y460H	NDST2_ENST00000299641.4_Missense_Mutation_p.Y337H|RP11-574K11.31_ENST00000603027.1_Missense_Mutation_p.Y460H			P52849	NDST2_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2	460	Heparan sulfate N-deacetylase 2.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|hydrolase activity (GO:0016787)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30	Prostate(51;0.0112)					AGATGGGGATACTCCTCAGTG	0.567																																					p.Y460H		.											.	NDST2-91	0			c.T1378C						.						81.0	76.0	77.0					10																	75566103		2203	4300	6503	SO:0001583	missense	8509	exon6			GGGGATACTCCTC	U36601	CCDS7335.1	10q22	2007-03-14			ENSG00000166507	ENSG00000166507		"""Sulfotransferases, membrane-bound"""	7681	protein-coding gene	gene with protein product		603268				9601056	Standard	NM_003635		Approved	NST2, HSST2	uc001jvk.2	P52849	OTTHUMG00000018489	ENST00000309979.6:c.1378T>C	10.37:g.75566103A>G	ENSP00000310657:p.Tyr460His	61	0		92	40	NM_003635	0	0	6	17	11	Q2TB32|Q59H89	Missense_Mutation	SNP	ENST00000309979.6	37	CCDS7335.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.095602	0.76870	.	.	ENSG00000166507	ENST00000309979;ENST00000299641	T;T	0.60672	0.38;0.17	5.98	5.98	0.97165	.	0.112509	0.64402	D	0.000007	T	0.75532	0.3862	M	0.70842	2.15	0.80722	D	1	D;D;D	0.89917	0.996;1.0;0.994	D;D;D	0.80764	0.982;0.994;0.968	T	0.77466	-0.2577	10	0.62326	D	0.03	.	16.4728	0.84119	1.0:0.0:0.0:0.0	.	337;130;460	B4E139;B4DQU1;P52849	.;.;NDST2_HUMAN	H	460;337	ENSP00000310657:Y460H;ENSP00000299641:Y337H	ENSP00000299641:Y337H	Y	-	1	0	NDST2	75236109	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.339000	0.96797	2.296000	0.77279	0.482000	0.46254	TAT	.		0.567	NDST2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048710.1	NM_003635	
NDST2	8509	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	75567679	75567679	+	Silent	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:75567679C>T	ENST00000309979.6	-	3	1024	c.468G>A	c.(466-468)ctG>ctA	p.L156L	NDST2_ENST00000398701.2_5'Flank|NDST2_ENST00000299641.4_Silent_p.L33L|RP11-574K11.31_ENST00000603027.1_Silent_p.L156L			P52849	NDST2_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2	156	Heparan sulfate N-deacetylase 2.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|hydrolase activity (GO:0016787)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30	Prostate(51;0.0112)					ACCGGTCTAGCAGTTCCCGAC	0.532																																					p.L156L		.											.	NDST2-91	0			c.G468A						.						95.0	92.0	93.0					10																	75567679		2203	4300	6503	SO:0001819	synonymous_variant	8509	exon3			GTCTAGCAGTTCC	U36601	CCDS7335.1	10q22	2007-03-14			ENSG00000166507	ENSG00000166507		"""Sulfotransferases, membrane-bound"""	7681	protein-coding gene	gene with protein product		603268				9601056	Standard	NM_003635		Approved	NST2, HSST2	uc001jvk.2	P52849	OTTHUMG00000018489	ENST00000309979.6:c.468G>A	10.37:g.75567679C>T		147	0		191	74	NM_003635	0	0	10	16	6	Q2TB32|Q59H89	Silent	SNP	ENST00000309979.6	37	CCDS7335.1																																																																																			.		0.532	NDST2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048710.1	NM_003635	
DLG5	9231	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	79581401	79581401	+	Nonsense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:79581401C>T	ENST00000372391.2	-	15	2846	c.2841G>A	c.(2839-2841)tgG>tgA	p.W947*	DLG5_ENST00000459739.1_5'Flank|DLG5_ENST00000372388.2_Intron	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	947					apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			TGGCCTTGGGCCAGGTCCCGC	0.577																																					p.W947X		.											.	DLG5-98	0			c.G2841A						.						18.0	17.0	17.0					10																	79581401		2198	4293	6491	SO:0001587	stop_gained	9231	exon15			CTTGGGCCAGGTC	U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"""discs, large (Drosophila) homolog 5"""			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.2841G>A	10.37:g.79581401C>T	ENSP00000361467:p.Trp947*	47	0		68	29	NM_004747	0	0	4	7	3	A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Nonsense_Mutation	SNP	ENST00000372391.2	37	CCDS7353.2	.	.	.	.	.	.	.	.	.	.	C	41	8.917857	0.99002	.	.	ENSG00000151208	ENST00000372391;ENST00000372392	.	.	.	5.9	5.9	0.94986	.	0.000000	0.36374	N	0.002636	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.2795	0.98512	0.0:1.0:0.0:0.0	.	.	.	.	X	947;496	.	ENSP00000361467:W947X	W	-	3	0	DLG5	79251407	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.281000	0.78621	2.803000	0.96430	0.609000	0.83330	TGG	.		0.577	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2		
DLG5	9231	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	79613277	79613277	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:79613277G>A	ENST00000372391.2	-	5	704	c.699C>T	c.(697-699)ctC>ctT	p.L233L	DLG5_ENST00000372388.2_Silent_p.L233L	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	233					apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			GGTCACTCAGGAGCCGGCTGT	0.647																																					p.L233L		.											.	DLG5-98	0			c.C699T						.						38.0	32.0	34.0					10																	79613277		2203	4300	6503	SO:0001819	synonymous_variant	9231	exon5			ACTCAGGAGCCGG	U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"""discs, large (Drosophila) homolog 5"""			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.699C>T	10.37:g.79613277G>A		29	0		41	14	NM_004747	0	0	3	10	7	A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Silent	SNP	ENST00000372391.2	37	CCDS7353.2																																																																																			.		0.647	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2		
ZMIZ1	57178	hgsc.bcm.edu;bcgsc.ca	37	10	81072446	81072446	+	Frame_Shift_Del	DEL	C	C	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:81072446delC	ENST00000334512.5	+	25	3716	c.3144delC	c.(3142-3144)gacfs	p.D1048fs	ZMIZ1_ENST00000446377.2_Frame_Shift_Del_p.D114fs	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	1048					artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CTTATCTGGACCCCCCCGACC	0.557																																					p.D1048fs		.											.	ZMIZ1-292	0			c.3144delC						.						193.0	181.0	185.0					10																	81072446		2203	4300	6503	SO:0001589	frameshift_variant	57178	exon25			TCTGGACCCCCCC	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"""Zinc fingers, MIZ-type"""	16493	protein-coding gene	gene with protein product		607159	"""retinoic acid induced 17"""	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.3144delC	10.37:g.81072446delC	ENSP00000334474:p.Asp1048fs	159	1		220	108	NM_020338	0	0	0	0	0	Q5JSH9|Q7Z7E6	Frame_Shift_Del	DEL	ENST00000334512.5	37	CCDS7357.1																																																																																			.		0.557	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338	
TMEM254	80195	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	10	81838509	81838510	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	CA	CA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:81838509_81838510delCA	ENST00000372281.3	+	1	84_85	c.54_55delCA	c.(52-57)ttcacafs	p.T19fs	TMEM254_ENST00000372274.1_Frame_Shift_Del_p.T19fs|TMEM254-AS1_ENST00000448729.2_RNA|TMEM254_ENST00000372275.1_Frame_Shift_Del_p.T19fs|TMEM254-AS1_ENST00000412298.1_RNA|TMEM254_ENST00000372277.3_Frame_Shift_Del_p.T19fs|TMEM254-AS1_ENST00000432070.2_RNA	NM_001270372.1|NM_025125.3	NP_001257301.1|NP_079401.2	Q8TBM7	TM254_HUMAN	transmembrane protein 254	19						integral component of membrane (GO:0016021)											TGTTCTGGTTCACAGTCATCAC	0.634																																					p.18_19del		.											.	.	0			c.54_55del						.																																			SO:0001589	frameshift_variant	80195	exon1			CTGGTTCACAGTC	BC022252	CCDS7363.1, CCDS58086.1, CCDS58087.1, CCDS73157.1	10q23.1	2012-11-06	2012-11-06	2012-11-06	ENSG00000133678	ENSG00000133678			25804	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 57"""	C10orf57		14702039	Standard	NM_025125		Approved	FLJ13263, bA369J21.6	uc010qlw.3	Q8TBM7	OTTHUMG00000018602	ENST00000372281.3:c.54_55delCA	10.37:g.81838511_81838512delCA	ENSP00000361355:p.Thr19fs	74	0		89	24	NM_001270370	0	0	0	0	0	D3DWC8|Q53HP4|Q5JTC0|Q5JTC1|Q6IA45|Q9H8S6	Frame_Shift_Del	DEL	ENST00000372281.3	37	CCDS7363.1																																																																																			.		0.634	TMEM254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049030.1	NM_025125	
ANXA11	311	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	81927056	81927056	+	Missense_Mutation	SNP	C	C	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:81927056C>A	ENST00000438331.1	-	7	1057	c.575G>T	c.(574-576)gGc>gTc	p.G192V	ANXA11_ENST00000537102.1_Missense_Mutation_p.G159V|ANXA11_ENST00000360615.4_Missense_Mutation_p.G192V|ANXA11_ENST00000372231.3_Missense_Mutation_p.G192V|ANXA11_ENST00000422982.3_Missense_Mutation_p.G192V|ANXA11_ENST00000535999.1_Missense_Mutation_p.G192V|ANXA11_ENST00000265447.4_Missense_Mutation_p.G192V	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11	192					cytokinesis, completion of separation (GO:0007109)|phagocytosis (GO:0006909)|response to calcium ion (GO:0051592)	azurophil granule (GO:0042582)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|specific granule (GO:0042581)|spindle (GO:0005819)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|MHC class II protein complex binding (GO:0023026)|phosphatidylethanolamine binding (GO:0008429)|poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)			endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			AGTGATGGTGCCTCGGCTTCC	0.577																																					p.G192V		.											.	ANXA11-91	0			c.G575T						.						62.0	60.0	61.0					10																	81927056		2203	4300	6503	SO:0001583	missense	311	exon6			ATGGTGCCTCGGC	L19605	CCDS7364.1, CCDS60576.1	10q22.3	2005-11-09			ENSG00000122359	ENSG00000122359		"""Annexins"""	535	protein-coding gene	gene with protein product		602572		ANX11		7508441, 9503022	Standard	NM_001157		Approved		uc001kbt.1	P50995	OTTHUMG00000018604	ENST00000438331.1:c.575G>T	10.37:g.81927056C>A	ENSP00000398610:p.Gly192Val	79	0		108	41	NM_145868	0	1	14	44	29	B4DVE7	Missense_Mutation	SNP	ENST00000438331.1	37	CCDS7364.1	.	.	.	.	.	.	.	.	.	.	.	24.9	4.577664	0.86645	.	.	ENSG00000122359	ENST00000372231;ENST00000422982;ENST00000438331;ENST00000372234;ENST00000360615;ENST00000265447;ENST00000535999;ENST00000424188;ENST00000537102;ENST00000445524	T;T;T;T;T;T;T	0.06528	3.29;3.29;3.29;3.29;3.29;3.29;3.29	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.27205	0.0667	M	0.77313	2.365	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.00512	-1.1696	10	0.72032	D	0.01	.	16.8441	0.85976	0.0:1.0:0.0:0.0	.	292;192;192	B7Z6L0;Q5T0G8;P50995	.;.;ANX11_HUMAN	V	192;192;192;192;192;192;192;99;159;192	ENSP00000361305:G192V;ENSP00000404412:G192V;ENSP00000398610:G192V;ENSP00000353827:G192V;ENSP00000265447:G192V;ENSP00000441748:G192V;ENSP00000441400:G159V	ENSP00000265447:G192V	G	-	2	0	ANXA11	81917036	1.000000	0.71417	1.000000	0.80357	0.694000	0.40290	7.347000	0.79356	2.663000	0.90544	0.561000	0.74099	GGC	.		0.577	ANXA11-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049044.1	NM_145869	
LDB3	11155	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	88469694	88469694	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:88469694C>T	ENST00000361373.4	+	8	1139	c.1118C>T	c.(1117-1119)gCc>gTc	p.A373V	LDB3_ENST00000458213.2_Missense_Mutation_p.A263V|LDB3_ENST00000263066.6_Missense_Mutation_p.A263V|LDB3_ENST00000429277.2_Missense_Mutation_p.A378V|LDB3_ENST00000352360.5_Missense_Mutation_p.A116V	NM_007078.2	NP_009009.1			LIM domain binding 3											breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						CCCGCAGTGGCCGCCTCTTCA	0.687																																					p.A378V		.											.	LDB3-92	0			c.C1133T						.						25.0	28.0	27.0					10																	88469694		2202	4300	6502	SO:0001583	missense	11155	exon9			CAGTGGCCGCCTC	AB014513	CCDS7377.1, CCDS41544.1, CCDS41545.1, CCDS53549.1, CCDS53550.1	10q22.3-q23.2	2014-09-17			ENSG00000122367	ENSG00000122367			15710	protein-coding gene	gene with protein product	"""cypher"", ""oracle"", ""Z-band alternatively spliced PDZ motif protein"""	605906	"""cardiomyopathy, dilated 1C (autosomal dominant)"""	CMD1C		10427098, 23271734, 23996002, 14662268	Standard	NM_001080114		Approved	PDLIM6, KIAA0613, ZASP	uc001kdv.3	O75112	OTTHUMG00000018655	ENST00000361373.4:c.1118C>T	10.37:g.88469694C>T	ENSP00000355296:p.Ala373Val	51	0		46	19	NM_001171610	0	0	0	0	0		Missense_Mutation	SNP	ENST00000361373.4	37	CCDS7377.1	.	.	.	.	.	.	.	.	.	.	C	5.446	0.267425	0.10294	.	.	ENSG00000122367	ENST00000539402;ENST00000429277;ENST00000458213;ENST00000352360;ENST00000263066;ENST00000361373	D;D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74;-1.74	5.33	4.42	0.53409	.	0.000000	0.32372	N	0.006199	T	0.75838	0.3904	L	0.47716	1.5	0.22378	N	0.999155	B;B;B;B;B	0.31548	0.001;0.328;0.0;0.001;0.0	B;B;B;B;B	0.31101	0.002;0.124;0.003;0.003;0.002	T	0.65344	-0.6191	10	0.33940	T	0.23	.	10.0189	0.42031	0.0:0.8384:0.0:0.1616	.	378;310;116;373;263	B4E3K3;F5H0C2;O75112-3;O75112;O75112-2	.;.;.;LDB3_HUMAN;.	V	310;378;263;116;263;373	ENSP00000401437:A378V;ENSP00000409148:A263V;ENSP00000263067:A116V;ENSP00000263066:A263V;ENSP00000355296:A373V	ENSP00000263066:A263V	A	+	2	0	LDB3	88459674	0.122000	0.22280	0.015000	0.15790	0.048000	0.14542	1.559000	0.36320	1.390000	0.46547	0.561000	0.74099	GCC	.		0.687	LDB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000049160.2		
BMPR1A	657	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	88683197	88683197	+	Missense_Mutation	SNP	T	T	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:88683197T>A	ENST00000372037.3	+	12	1944	c.1407T>A	c.(1405-1407)gaT>gaA	p.D469E		NM_004329.2	NP_004320.2	P36894	BMR1A_HUMAN	bone morphogenetic protein receptor, type IA	469	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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						CATACGAAGATATGCGTGAGG	0.448			"""Mis, N, F"""			gastrointestinal polyps			Juvenile Polyposis;Hereditary Mixed Polyposis syndrome type 2																												p.D469E	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.T1407A						.						198.0	168.0	178.0					10																	88683197		2203	4297	6500	SO:0001583	missense	657	exon12	Familial Cancer Database	incl.: Juvenile Polyposis of the Stomach;HMPS2	CGAAGATATGCGT	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.1407T>A	10.37:g.88683197T>A	ENSP00000361107:p.Asp469Glu	160	0		240	101	NM_004329	0	0	15	26	11	A8K6U9|Q8NEN8	Missense_Mutation	SNP	ENST00000372037.3	37	CCDS7378.1	.	.	.	.	.	.	.	.	.	.	T	12.10	1.837999	0.32513	.	.	ENSG00000107779	ENST00000224764;ENST00000372037	T	0.66638	-0.22	5.47	-3.87	0.04218	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.41511	0.1162	N	0.11023	0.085	0.58432	D	0.999993	B	0.29612	0.251	B	0.32149	0.141	T	0.12066	-1.0562	10	0.13470	T	0.59	.	14.7172	0.69277	0.0:0.5322:0.0:0.4678	.	469	P36894	BMR1A_HUMAN	E	469	ENSP00000361107:D469E	ENSP00000224764:D469E	D	+	3	2	BMPR1A	88673177	0.996000	0.38824	0.938000	0.37757	0.993000	0.82548	0.388000	0.20735	-0.674000	0.05253	0.533000	0.62120	GAT	.		0.448	BMPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049170.3	NM_004329	
PLCE1	51196	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	96006241	96006241	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:96006241C>T	ENST00000371380.3	+	7	3194	c.2959C>T	c.(2959-2961)Cac>Tac	p.H987Y	PLCE1_ENST00000371385.3_Missense_Mutation_p.H679Y|PLCE1_ENST00000260766.3_Missense_Mutation_p.H987Y|PLCE1_ENST00000371375.1_Missense_Mutation_p.H679Y			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	987					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)				CAGATTATTGCACTTCGTGGC	0.458																																					p.H987Y		.											.	PLCE1-229	0			c.C2959T						.						129.0	124.0	125.0					10																	96006241		1979	4180	6159	SO:0001583	missense	51196	exon8			TTATTGCACTTCG		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.2959C>T	10.37:g.96006241C>T	ENSP00000360431:p.His987Tyr	187	0		202	111	NM_016341	0	0	2	5	3	A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	37	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.616380	0.46736	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.33654	1.4;1.4;1.4;1.4	5.89	5.89	0.94794	.	0.110878	0.64402	D	0.000011	T	0.41073	0.1143	L	0.38531	1.155	0.47441	D	0.999421	D;P;B	0.54964	0.969;0.678;0.145	P;P;B	0.51453	0.67;0.565;0.03	T	0.03473	-1.1033	10	0.12766	T	0.61	.	20.3137	0.98647	0.0:1.0:0.0:0.0	.	987;679;987	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	Y	987;987;679;679	ENSP00000260766:H987Y;ENSP00000360431:H987Y;ENSP00000360438:H679Y;ENSP00000360426:H679Y	ENSP00000260766:H987Y	H	+	1	0	PLCE1	95996231	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.456000	0.80751	2.814000	0.96858	0.585000	0.79938	CAC	.		0.458	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341	
ALDH18A1	5832	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	97393407	97393407	+	Splice_Site	SNP	C	C	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:97393407C>G	ENST00000371224.2	-	6	696		c.e6-1		ALDH18A1_ENST00000371221.3_Splice_Site	NM_002860.3	NP_002851.2	P54886	P5CS_HUMAN	aldehyde dehydrogenase 18 family, member A1						cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|citrulline biosynthetic process (GO:0019240)|glutamate metabolic process (GO:0006536)|L-proline biosynthetic process (GO:0055129)|ornithine biosynthetic process (GO:0006592)|proline biosynthetic process (GO:0006561)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glutamate 5-kinase activity (GO:0004349)|glutamate-5-semialdehyde dehydrogenase activity (GO:0004350)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Colorectal(252;0.0402)		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)		TCACCAAAATCTAAAAGGATT	0.403																																					.		.											.	ALDH18A1-117	0			c.559-1G>C						.						63.0	56.0	59.0					10																	97393407		2203	4300	6503	SO:0001630	splice_region_variant	5832	exon7			CAAAATCTAAAAG	X94453	CCDS7443.1, CCDS31257.1	10q24.3-q24.6	2004-08-12	2004-08-12	2004-08-12	ENSG00000059573	ENSG00000059573		"""Aldehyde dehydrogenases"""	9722	protein-coding gene	gene with protein product		138250	"""pyrroline-5-carboxylate synthetase (glutamate gamma-semialdehyde synthetase)"""	GSAS, PYCS		8921385	Standard	XM_006717933		Approved	P5CS	uc001kkz.3	P54886	OTTHUMG00000018815	ENST00000371224.2:c.559-1G>C	10.37:g.97393407C>G		86	0		130	64	NM_002860	0	0	0	0	0	B2R5Q4|B7Z350|B7Z5X8|B7ZLP1|D3DR44|O95952|Q3KQU2|Q5T566|Q5T567|Q9UM72	Splice_Site	SNP	ENST00000371224.2	37	CCDS7443.1	.	.	.	.	.	.	.	.	.	.	c	23.3	4.395540	0.83011	.	.	ENSG00000059573	ENST00000371224;ENST00000371221	.	.	.	5.88	5.88	0.94601	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7263	0.88366	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ALDH18A1	97383397	1.000000	0.71417	0.999000	0.59377	0.924000	0.55760	7.364000	0.79526	2.760000	0.94817	0.651000	0.88453	.	.		0.403	ALDH18A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049552.1	NM_002860	Intron
ANKRD2	26287	broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	99338087	99338087	+	Nonsense_Mutation	SNP	A	A	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:99338087A>T	ENST00000307518.5	+	3	628	c.361A>T	c.(361-363)Aaa>Taa	p.K121*	ANKRD2_ENST00000455090.1_Nonsense_Mutation_p.K94*|ANKRD2_ENST00000298808.5_Nonsense_Mutation_p.K121*|ANKRD2_ENST00000370655.1_Nonsense_Mutation_p.K94*			Q9GZV1	ANKR2_HUMAN	ankyrin repeat domain 2 (stretch responsive muscle)	121					muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|skeletal muscle cell differentiation (GO:0035914)	cytosol (GO:0005829)|euchromatin (GO:0000791)|I band (GO:0031674)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	protein kinase B binding (GO:0043422)|structural constituent of muscle (GO:0008307)			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7		all_hematologic(284;1.95e-06)|Colorectal(252;0.0163)		Epithelial(162;1.18e-94)|all cancers(201;9.31e-86)|BRCA - Breast invasive adenocarcinoma(275;0.0233)|STAD - Stomach adenocarcinoma(243;0.181)|KIRC - Kidney renal clear cell carcinoma(50;0.206)|Kidney(138;0.241)		GCTGCGGAAGAAACGCAAGCA	0.677																																					p.K121X		.											.	ANKRD2-90	0			c.A361T						.						31.0	31.0	31.0					10																	99338087		2203	4300	6503	SO:0001587	stop_gained	26287	exon3			CGGAAGAAACGCA	AJ304805	CCDS7466.1, CCDS44468.1	10q23	2013-01-10			ENSG00000165887	ENSG00000165887		"""Ankyrin repeat domain containing"""	495	protein-coding gene	gene with protein product		610734				10873377, 15136035, 15677738	Standard	NM_001129981		Approved	ARPP	uc001knw.3	Q9GZV1	OTTHUMG00000018860	ENST00000307518.5:c.361A>T	10.37:g.99338087A>T	ENSP00000306163:p.Lys121*	131	2		152	62	NM_001129981	0	0	0	0	0	Q3B778|Q5T456|Q70EZ9|Q8WUD7|Q96MG0|Q9NQC9	Nonsense_Mutation	SNP	ENST00000307518.5	37	CCDS7466.1	.	.	.	.	.	.	.	.	.	.	A	38	7.148342	0.98096	.	.	ENSG00000165887	ENST00000307518;ENST00000298808;ENST00000370655;ENST00000455090	.	.	.	5.35	5.35	0.76521	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.2745	11.8334	0.52309	0.8539:0.1461:0.0:0.0	.	.	.	.	X	121;121;94;94	.	ENSP00000298808:K121X	K	+	1	0	ANKRD2	99328077	1.000000	0.71417	0.999000	0.59377	0.893000	0.52053	4.595000	0.61048	2.015000	0.59207	0.402000	0.26972	AAA	.		0.677	ANKRD2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
HPS1	3257	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	100202968	100202968	+	Silent	SNP	G	G	A	rs550478432		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:100202968G>A	ENST00000325103.6	-	3	263	c.30C>T	c.(28-30)ggC>ggT	p.G10G	HPS1_ENST00000338546.5_Silent_p.G10G|HPS1_ENST00000361490.4_Silent_p.G10G|HPS1_ENST00000467246.1_5'UTR	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	10					blood coagulation (GO:0007596)|eye pigmentation (GO:0048069)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of natural killer cell activation (GO:0032816)|retina development in camera-type eye (GO:0060041)|secretion of lysosomal enzymes (GO:0033299)|visual perception (GO:0007601)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	protein dimerization activity (GO:0046983)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		GGACCTCTGCGCCCTCAGTGG	0.547									Hermansky-Pudlak syndrome				G|||	1	0.000199681	0.0	0.0	5008	,	,		18769	0.0		0.0	False		,,,				2504	0.001				p.G10G		.											.	HPS1-91	0			c.C30T						.						124.0	110.0	114.0					10																	100202968		2203	4300	6503	SO:0001819	synonymous_variant	3257	exon3	Familial Cancer Database	HPS, HPS1-8	CTCTGCGCCCTCA	U79136	CCDS7475.1, CCDS7476.1	10q23.1-q23.3	2014-06-18		2002-05-01	ENSG00000107521	ENSG00000107521			5163	protein-coding gene	gene with protein product		604982	"""Hermansky-Pudlak syndrome"""	HPS		8541858, 7573033	Standard	NM_182639		Approved		uc021pwv.1	Q92902	OTTHUMG00000018876	ENST00000325103.6:c.30C>T	10.37:g.100202968G>A		142	0		201	72	NM_000195	0	0	26	54	28	A8MRT2|O15402|O15502|Q5TAA3|Q8WXE5	Silent	SNP	ENST00000325103.6	37	CCDS7475.1																																																																																			.		0.547	HPS1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049776.1	NM_000195, NM_182637, NM_182638, NM_182639	
ABCC2	1244	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	101594287	101594287	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:101594287G>A	ENST00000370449.4	+	24	3522	c.3409G>A	c.(3409-3411)Gtt>Att	p.V1137I		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	1137	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	TTATGTATCTGTTCAGGTAGG	0.438																																					p.V1137I		.											.	ABCC2-91	0			c.G3409A						.						380.0	311.0	334.0					10																	101594287		2203	4300	6503	SO:0001583	missense	1244	exon24			GTATCTGTTCAGG	U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"""ATP binding cassette transporters / subfamily C"""	53	protein-coding gene	gene with protein product		601107	"""canalicular multispecific organic anion transporter 1"""	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.3409G>A	10.37:g.101594287G>A	ENSP00000359478:p.Val1137Ile	155	0		228	94	NM_000392	0	0	0	0	0	B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Missense_Mutation	SNP	ENST00000370449.4	37	CCDS7484.1	.	.	.	.	.	.	.	.	.	.	G	12.66	2.004568	0.35320	.	.	ENSG00000023839	ENST00000370449	D	0.90444	-2.67	5.27	-2.12	0.07165	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.351734	0.32218	N	0.006401	T	0.80889	0.4710	N	0.16233	0.39	0.80722	D	1	B	0.15719	0.014	B	0.30495	0.116	T	0.61013	-0.7148	10	0.24483	T	0.36	-2.8048	10.4919	0.44756	0.4678:0.0:0.5322:0.0	.	1137	Q92887	MRP2_HUMAN	I	1137	ENSP00000359478:V1137I	ENSP00000359478:V1137I	V	+	1	0	ABCC2	101584277	1.000000	0.71417	0.019000	0.16419	0.753000	0.42808	1.284000	0.33249	-0.505000	0.06568	0.555000	0.69702	GTT	.		0.438	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	NM_000392	
LDB1	8861	broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	103867930	103867930	+	Missense_Mutation	SNP	C	C	T	rs141161148	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:103867930C>T	ENST00000425280.1	-	11	1498	c.1156G>A	c.(1156-1158)Gcc>Acc	p.A386T	LDB1_ENST00000361198.5_Missense_Mutation_p.A350T|LDB1_ENST00000490751.1_5'Flank	NM_001113407.1	NP_001106878.1	Q86U70	LDB1_HUMAN	LIM domain binding 1	386					anterior/posterior axis specification (GO:0009948)|cellular component assembly (GO:0022607)|cerebellar Purkinje cell differentiation (GO:0021702)|epithelial structure maintenance (GO:0010669)|gastrulation with mouth forming second (GO:0001702)|hair follicle development (GO:0001942)|head development (GO:0060322)|histone H3-K4 acetylation (GO:0043973)|multicellular organismal development (GO:0007275)|negative regulation of erythrocyte differentiation (GO:0045647)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|positive regulation of cell adhesion (GO:0045785)|positive regulation of hemoglobin biosynthetic process (GO:0046985)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell maintenance (GO:0035019)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery (GO:0000972)|Wnt signaling pathway (GO:0016055)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|enzyme binding (GO:0019899)|LIM domain binding (GO:0030274)|protein homodimerization activity (GO:0042803)|RNA polymerase II activating transcription factor binding (GO:0001102)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)	21		Colorectal(252;0.122)		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)		GGGCTGTTGGCGCCCAGTGCA	0.607																																					p.A386T		.											.	LDB1-289	0			c.G1156A						.	C	THR/ALA,THR/ALA	0,4406		0,0,2203	195.0	168.0	177.0		1156,1048	5.0	1.0	10	dbSNP_134	177	6,8594	5.0+/-18.6	0,6,4294	yes	missense,missense	LDB1	NM_001113407.1,NM_003893.4	58,58	0,6,6497	TT,TC,CC		0.0698,0.0,0.0461	benign,benign	386/412,350/376	103867930	6,13000	2203	4300	6503	SO:0001583	missense	8861	exon11			TGTTGGCGCCCAG	AF068652	CCDS7528.1, CCDS44472.1	10q24-q25	2008-08-01			ENSG00000198728	ENSG00000198728			6532	protein-coding gene	gene with protein product	"""carboxy terminal LIM domain protein 2"""	603451				9503020, 9799849	Standard	NM_003893		Approved	NLI, CLIM2	uc009xwz.3	Q86U70	OTTHUMG00000018950	ENST00000425280.1:c.1156G>A	10.37:g.103867930C>T	ENSP00000392466:p.Ala386Thr	154	1		188	75	NM_001113407	0	0	37	82	45	B4DUC4|O75479|O96010|Q1EQX1|Q9UGM4	Missense_Mutation	SNP	ENST00000425280.1	37	CCDS44472.1	.	.	.	.	.	.	.	.	.	.	C	11.09	1.535182	0.27475	0.0	6.98E-4	ENSG00000198728	ENST00000361198;ENST00000425280	T;T	0.21734	1.99;1.99	5.93	5.02	0.67125	.	0.144593	0.64402	D	0.000006	T	0.15305	0.0369	N	0.22421	0.69	0.42278	D	0.992087	B	0.02656	0.0	B	0.01281	0.0	T	0.05989	-1.0852	10	0.13108	T	0.6	-12.1882	16.8532	0.86000	0.0:0.8714:0.1286:0.0	.	386	Q86U70	LDB1_HUMAN	T	350;386	ENSP00000354616:A350T;ENSP00000392466:A386T	ENSP00000354616:A350T	A	-	1	0	LDB1	103857920	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.641000	0.37197	1.503000	0.48686	0.561000	0.74099	GCC	C|0.999;T|0.001		0.607	LDB1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001113407	
PPRC1	23082	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	103900009	103900009	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:103900009G>A	ENST00000278070.2	+	5	1783	c.1744G>A	c.(1744-1746)Gcc>Acc	p.A582T	PPRC1_ENST00000370012.1_5'Flank|PPRC1_ENST00000413464.2_Missense_Mutation_p.A582T	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	582					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CTCTGCCCAAGCCAGCCCCAT	0.542																																					p.A582T		.											.	PPRC1-227	0			c.G1744A						.						134.0	115.0	121.0					10																	103900009		2203	4300	6503	SO:0001583	missense	23082	exon5			GCCCAAGCCAGCC	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"""RNA binding motif (RRM) containing"""	30025	protein-coding gene	gene with protein product			"""peroxisome proliferative activated receptor, gamma, coactivator-related 1"""			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.1744G>A	10.37:g.103900009G>A	ENSP00000278070:p.Ala582Thr	197	0		239	98	NM_015062	0	0	10	22	12	Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	ENST00000278070.2	37	CCDS7529.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.313897	0.81358	.	.	ENSG00000148840	ENST00000278070;ENST00000413464	T;T	0.55234	0.53;0.53	4.77	4.77	0.60923	.	0.690664	0.13071	N	0.416110	T	0.55081	0.1898	L	0.29908	0.895	0.09310	N	0.999995	P;P;P	0.49783	0.883;0.928;0.546	P;P;B	0.52957	0.522;0.714;0.307	T	0.50250	-0.8850	10	0.45353	T	0.12	.	16.1091	0.81247	0.0:0.0:1.0:0.0	.	582;462;582	E7EVG6;Q5VV67-2;Q5VV67	.;.;PPRC1_HUMAN	T	582	ENSP00000278070:A582T;ENSP00000399743:A582T	ENSP00000278070:A582T	A	+	1	0	PPRC1	103889999	0.667000	0.27484	0.015000	0.15790	0.007000	0.05969	2.715000	0.47210	2.594000	0.87642	0.555000	0.69702	GCC	.		0.542	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062	
CNNM2	54805	hgsc.bcm.edu;bcgsc.ca	37	10	104679763	104679763	+	Frame_Shift_Del	DEL	C	C	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:104679763delC	ENST00000369878.4	+	1	1714	c.1526delC	c.(1525-1527)accfs	p.T509fs	CNNM2_ENST00000369875.3_Frame_Shift_Del_p.T509fs|CNNM2_ENST00000433628.2_Frame_Shift_Del_p.T509fs	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 2	509	CBS 1. {ECO:0000255|PROSITE- ProRule:PRU00703}.				magnesium ion homeostasis (GO:0010960)|magnesium ion transport (GO:0015693)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	adenyl nucleotide binding (GO:0030554)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GATGACTGTACCCCCCTGAAA	0.488																																					p.T509fs		.											.	CNNM2-515	0			c.1526delC						.						124.0	132.0	129.0					10																	104679763		2203	4300	6503	SO:0001589	frameshift_variant	54805	exon1			ACTGTACCCCCCT	AF216962	CCDS7543.1, CCDS44474.1, CCDS44475.1	10q24.32	2014-08-08	2014-08-07		ENSG00000148842	ENSG00000148842			103	protein-coding gene	gene with protein product		607803	"""cyclin M2"""	ACDP2		21393841, 24699222	Standard	NM_017649		Approved		uc001kwm.3	Q9H8M5	OTTHUMG00000018976	ENST00000369878.4:c.1526delC	10.37:g.104679763delC	ENSP00000358894:p.Thr509fs	154	1		207	93	NM_199076	0	0	0	0	0	Q5T569|Q5T570|Q8WU59|Q9H952|Q9NRK5|Q9NXT4	Frame_Shift_Del	DEL	ENST00000369878.4	37	CCDS44474.1																																																																																			.		0.488	CNNM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050113.3	NM_017649	
NEURL1	9148	hgsc.bcm.edu	37	10	105344837	105344837	+	Silent	SNP	C	C	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:105344837C>A	ENST00000369780.4	+	4	1603	c.1194C>A	c.(1192-1194)atC>atA	p.I398I	NEURL_ENST00000369777.2_Silent_p.I381I	NM_004210.4	NP_004201.3	O76050	NEUL1_HUMAN		398	NHR 2. {ECO:0000255|PROSITE- ProRule:PRU00400}.				brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|lactation (GO:0007595)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Notch signaling pathway (GO:0045746)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse maturation (GO:0090129)|protein monoubiquitination (GO:0006513)|skeletal muscle tissue development (GO:0007519)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)	apical dendrite (GO:0097440)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ligase activity (GO:0016874)|translation factor activity, non-nucleic acid binding (GO:0045183)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		GCGGCGACATCCTGGGCCTGG	0.716																																					p.I398I		.											.	NEURL-226	0			c.C1194A						.						8.0	8.0	8.0					10																	105344837		2097	4154	6251	SO:0001819	synonymous_variant	9148	exon4			CGACATCCTGGGC																												ENST00000369780.4:c.1194C>A	10.37:g.105344837C>A		0	0		21	14	NM_004210	0	0	2	2	0	Q5TDR2|Q5TDR3|Q8TAN0|Q9H463	Silent	SNP	ENST00000369780.4	37	CCDS7551.1																																																																																			.		0.716	NEURL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050170.1		
SLK	9748	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	105750547	105750547	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:105750547C>T	ENST00000369755.3	+	2	810	c.265C>T	c.(265-267)Cca>Tca	p.P89S	SLK_ENST00000335753.4_Missense_Mutation_p.P89S	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	89	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)		TTGTGATCACCCAAATATAGT	0.353																																					p.P89S	NSCLC(111;540 1651 1927 4474 17706)	.											.	SLK-549	0			c.C265T						.						127.0	118.0	121.0					10																	105750547		2203	4300	6503	SO:0001583	missense	9748	exon2			GATCACCCAAATA		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.265C>T	10.37:g.105750547C>T	ENSP00000358770:p.Pro89Ser	88	0		83	35	NM_014720	0	0	25	44	19	D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	Missense_Mutation	SNP	ENST00000369755.3	37	CCDS7553.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.734820	0.89482	.	.	ENSG00000065613	ENST00000335753;ENST00000369755	T;T	0.18502	2.21;2.21	6.17	6.17	0.99709	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.184962	0.48767	D	0.000165	T	0.36880	0.0983	M	0.87827	2.91	0.80722	D	1	P;P	0.44260	0.797;0.83	B;P	0.46320	0.378;0.512	T	0.23868	-1.0176	10	0.66056	D	0.02	.	17.7333	0.88384	0.0:0.878:0.122:0.0	.	89;89	Q9H2G2-2;Q9H2G2	.;SLK_HUMAN	S	89	ENSP00000336824:P89S;ENSP00000358770:P89S	ENSP00000336824:P89S	P	+	1	0	SLK	105740537	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.831000	0.62752	2.941000	0.99782	0.655000	0.94253	CCA	.		0.353	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050188.1	NM_014720	
SORCS3	22986	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	10	106675687	106675687	+	Missense_Mutation	SNP	G	G	C	rs267602356		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:106675687G>C	ENST00000369701.3	+	3	1019	c.792G>C	c.(790-792)agG>agC	p.R264S		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	264					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CCAACAAAAGGAAGGTAAGAG	0.463																																					p.R264S	NSCLC(116;1497 1690 7108 13108 14106)	.											.	SORCS3-99	0			c.G792C						.						118.0	102.0	107.0					10																	106675687		2203	4300	6503	SO:0001583	missense	22986	exon3			CAAAAGGAAGGTA	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.792G>C	10.37:g.106675687G>C	ENSP00000358715:p.Arg264Ser	208	0		226	12	NM_014978	0	0	0	0	0	Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	G	16.06	3.015429	0.54468	.	.	ENSG00000156395	ENST00000369701	T	0.22743	1.94	5.49	5.49	0.81192	VPS10 (1);	0.285202	0.35040	N	0.003489	T	0.20170	0.0485	L	0.34521	1.04	0.49687	D	0.999813	B	0.29936	0.262	B	0.35607	0.206	T	0.03483	-1.1032	10	0.48119	T	0.1	.	12.688	0.56958	0.0756:0.0:0.9244:0.0	.	264	Q9UPU3	SORC3_HUMAN	S	264	ENSP00000358715:R264S	ENSP00000358715:R264S	R	+	3	2	SORCS3	106665677	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.068000	0.50018	2.573000	0.86826	0.655000	0.94253	AGG	.		0.463	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978	
XPNPEP1	7511	broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	111633180	111633180	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:111633180C>T	ENST00000502935.1	-	16	1516	c.1397G>A	c.(1396-1398)gGc>gAc	p.G466D	XPNPEP1_ENST00000369680.4_Missense_Mutation_p.G423D|XPNPEP1_ENST00000369683.1_Missense_Mutation_p.G352D|XPNPEP1_ENST00000322238.8_Missense_Mutation_p.G442D					X-prolyl aminopeptidase (aminopeptidase P) 1, soluble											endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		ATCTGTGGTGCCATCCCTTTC	0.453																																					p.G466D		.											.	XPNPEP1-94	0			c.G1397A						.						155.0	137.0	143.0					10																	111633180		2203	4300	6503	SO:0001583	missense	7511	exon16			GTGGTGCCATCCC		CCDS7560.1, CCDS7560.2, CCDS53576.1	10q25.3	2006-01-16	2002-07-17		ENSG00000108039	ENSG00000108039	3.4.11.9		12822	protein-coding gene	gene with protein product		602443	"""X-prolyl aminopeptidase (aminopeptidase P)-like"""	XPNPEP, XPNPEPL1, XPNPEPL			Standard	NM_020383		Approved		uc001kyp.2	Q9NQW7	OTTHUMG00000019029	ENST00000502935.1:c.1397G>A	10.37:g.111633180C>T	ENSP00000421566:p.Gly466Asp	147	1		197	81	NM_020383	0	0	3	4	1		Missense_Mutation	SNP	ENST00000502935.1	37	CCDS7560.2	.	.	.	.	.	.	.	.	.	.	C	32	5.190625	0.94923	.	.	ENSG00000108039	ENST00000502935;ENST00000369683;ENST00000322238;ENST00000369680	T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08	5.82	5.82	0.92795	Peptidase M24, structural domain (3);	0.000000	0.85682	D	0.000000	D	0.94338	0.8180	H	0.99783	4.775	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96768	0.9566	10	0.87932	D	0	-11.7458	18.2796	0.90094	0.0:1.0:0.0:0.0	.	466;423	G5E9Y2;Q9NQW7	.;XPP1_HUMAN	D	466;352;442;423	ENSP00000421566:G466D;ENSP00000358697:G352D;ENSP00000324011:G442D;ENSP00000358694:G423D	ENSP00000324011:G442D	G	-	2	0	XPNPEP1	111623170	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.506000	0.81665	2.752000	0.94435	0.655000	0.94253	GGC	.		0.453	XPNPEP1-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050264.2		
ADRA2A	150	broad.mit.edu;bcgsc.ca;mdanderson.org	37	10	112838493	112838493	+	Missense_Mutation	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:112838493A>G	ENST00000280155.2	+	1	1704	c.739A>G	c.(739-741)Agc>Ggc	p.S247G		NM_000681.3	NP_000672.3	P08913	ADA2A_HUMAN	adrenoceptor alpha 2A	232					actin cytoskeleton organization (GO:0030036)|activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|acute inflammatory response (GO:0002526)|adenylate cyclase-inhibiting adrenergic receptor signaling pathway (GO:0071881)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|DNA replication (GO:0006260)|energy reserve metabolic process (GO:0006112)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|fear response (GO:0042596)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|intestinal absorption (GO:0050892)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of adrenergic receptor signaling pathway (GO:0071878)|negative regulation of calcium ion transmembrane transporter activity (GO:1901020)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of insulin secretion (GO:0046676)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of norepinephrine secretion (GO:0010700)|negative regulation of uterine smooth muscle contraction (GO:0070473)|phospholipase C-activating adrenergic receptor signaling pathway (GO:0071882)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine production (GO:0001819)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of vasodilation (GO:0045909)|positive regulation of wound healing (GO:0090303)|Ras protein signal transduction (GO:0007265)|regulation of insulin secretion (GO:0050796)|regulation of vasoconstriction (GO:0019229)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|thermoception (GO:0050955)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	alpha-1B adrenergic receptor binding (GO:0031692)|alpha-2C adrenergic receptor binding (GO:0031696)|alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)|heterotrimeric G-protein binding (GO:0032795)|norepinephrine binding (GO:0051380)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|thioesterase binding (GO:0031996)			breast(1)|cervix(3)|endometrium(6)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(234;0.0735)|Lung NSC(174;0.238)		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Apraclonidine(DB00964)|Aripiprazole(DB01238)|Asenapine(DB06216)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Dexmedetomidine(DB00633)|Dihydroergotamine(DB00320)|Dipivefrin(DB00449)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Flupirtine(DB06623)|Guanabenz(DB00629)|Guanfacine(DB01018)|Lisuride(DB00589)|Lofexidine(DB04948)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Naphazoline(DB06711)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pramipexole(DB00413)|Prazosin(DB00457)|Propericiazine(DB01608)|Pseudoephedrine(DB00852)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Tizanidine(DB00697)|Tolazoline(DB00797)|Trazodone(DB00656)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CGTGCCACCCAGCCGCCGGGG	0.741																																					p.S247G	Esophageal Squamous(173;605 2658 7278 49362)	.											.	ADRA2A-90	0			c.A739G						.						17.0	17.0	17.0					10																	112838493		2167	4273	6440	SO:0001583	missense	150	exon1			CCACCCAGCCGCC	AF284095	CCDS7569.2	10q25.2	2012-08-08	2012-05-09		ENSG00000150594	ENSG00000150594		"""GPCR / Class A : Adrenoceptors : alpha"""	281	protein-coding gene	gene with protein product	"""alpha-2AAR subtype C10"", "" alpha-2A-adrenergic receptor"""	104210	"""adrenergic, alpha-2A-, receptor"""	ADRA2, ADRA2R			Standard	NM_000681		Approved	ADRAR	uc001kzo.3	P08913	OTTHUMG00000019050	ENST00000280155.2:c.739A>G	10.37:g.112838493A>G	ENSP00000280155:p.Ser247Gly	21	1		43	16	NM_000681	0	0	0	0	0	B0LPF6|Q2I8G2|Q2XN99|Q86TH8|Q9BZK1	Missense_Mutation	SNP	ENST00000280155.2	37	CCDS7569.2	.	.	.	.	.	.	.	.	.	.	A	5.653	0.305061	0.10678	.	.	ENSG00000150594	ENST00000280155	T	0.73152	-0.72	3.93	1.44	0.22558	GPCR, rhodopsin-like superfamily (1);	0.522861	0.20572	N	0.089706	T	0.42200	0.1192	N	0.12637	0.245	0.29051	N	0.884488	B	0.06786	0.001	B	0.09377	0.004	T	0.11991	-1.0565	10	0.16896	T	0.51	.	2.1833	0.03880	0.5516:0.0:0.2245:0.224	.	232	P08913	ADA2A_HUMAN	G	247	ENSP00000280155:S247G	ENSP00000280155:S247G	S	+	1	0	ADRA2A	112828483	1.000000	0.71417	0.924000	0.36721	0.730000	0.41778	3.738000	0.55067	0.454000	0.26884	0.374000	0.22700	AGC	.		0.741	ADRA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050372.2	NM_000681	
TCF7L2	6934	broad.mit.edu;bcgsc.ca	37	10	114711348	114711348	+	Silent	SNP	C	C	G	rs370746069	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:114711348C>G	ENST00000355995.4	+	3	870	c.363C>G	c.(361-363)ctC>ctG	p.L121L	TCF7L2_ENST00000536810.1_Silent_p.L121L|TCF7L2_ENST00000542695.1_5'UTR|TCF7L2_ENST00000369395.1_Silent_p.L121L|TCF7L2_ENST00000543371.1_Silent_p.L121L|TCF7L2_ENST00000352065.5_Silent_p.L121L|TCF7L2_ENST00000349937.2_Silent_p.L121L|TCF7L2_ENST00000538897.1_Silent_p.L121L|TCF7L2_ENST00000369397.4_Silent_p.L121L|TCF7L2_ENST00000545257.1_Silent_p.L121L|TCF7L2_ENST00000534894.1_Silent_p.L121L|RP11-57H14.2_ENST00000369391.3_RNA|TCF7L2_ENST00000355717.4_Silent_p.L121L			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	121				NGSL -> KRSV (in Ref. 2; CAB97212/ CAB97213). {ECO:0000305}.	blood vessel development (GO:0001568)|bone mineralization (GO:0030282)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|catenin import into nucleus (GO:0035411)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cellular response to starvation (GO:0009267)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|generation of neurons (GO:0048699)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen metabolic process (GO:0005977)|insulin metabolic process (GO:1901142)|maintenance of DNA repeat elements (GO:0043570)|multicellular organism growth (GO:0035264)|myoblast fate commitment (GO:0048625)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of organ growth (GO:0046621)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neural tube development (GO:0021915)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of insulin secretion (GO:0032024)|positive regulation of protein binding (GO:0032092)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|post-embryonic development (GO:0009791)|regulation of hormone metabolic process (GO:0032350)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of myelination (GO:0031641)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of skeletal muscle tissue development (GO:0048641)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|secretory granule localization (GO:0032252)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	beta-catenin-TCF7L2 complex (GO:0070369)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|gamma-catenin binding (GO:0045295)|nuclear hormone receptor binding (GO:0035257)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II repressing transcription factor binding (GO:0001103)|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)		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		ACGGATCGCTCTCGCCCACCG	0.736			T	VTI1A	colorectal																																p.L121L		.		Dom	yes		10	10q25.3	6934	transcription factor 7-like 2		E	.	TCF7L2-586	0			c.C363G						.						23.0	23.0	23.0					10																	114711348		2200	4299	6499	SO:0001819	synonymous_variant	6934	exon3			ATCGCTCTCGCCC	X62871	CCDS7576.1, CCDS53578.1, CCDS55729.1, CCDS73196.1, CCDS73197.1, CCDS73198.1	10q25.3	2006-11-24			ENSG00000148737	ENSG00000148737			11641	protein-coding gene	gene with protein product		602228		TCF4		1741298	Standard	NM_001146283		Approved	TCF-4	uc001lae.4	Q9NQB0	OTTHUMG00000019070	ENST00000355995.4:c.363C>G	10.37:g.114711348C>G		118	2		167	73	NM_001198526	0	0	5	11	6	B4DRJ8|B9X074|C6ZRJ8|C6ZRK0|E2GH14|E2GH19|E2GH20|E2GH24|E2GH25|E9PFH9|F8W742|F8W7T5|O00185|Q9NQB1|Q9NQB2|Q9NQB3|Q9NQB4|Q9NQB5|Q9NQB6|Q9NQB7|Q9ULC2	Silent	SNP	ENST00000355995.4	37																																																																																				.		0.736	TCF7L2-203	KNOWN	basic	protein_coding	protein_coding		NM_030756	
CCDC186	55088	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	115891096	115891096	+	Splice_Site	SNP	C	C	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:115891096C>A	ENST00000369287.3	-	12	2178		c.e12-1		C10orf118_ENST00000543782.1_Splice_Site|C10orf118_ENST00000497592.1_5'Flank	NM_018017.2	NP_060487.2	Q7Z3E2	CC186_HUMAN												NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		ACCTACTTTCCTGAATAGTAA	0.358																																					.		.											.	C10orf118-92	0			c.1912-1G>T						.						136.0	145.0	142.0					10																	115891096		2203	4300	6503	SO:0001630	splice_region_variant	55088	exon13			ACTTTCCTGAATA																												ENST00000369287.3:c.1912-1G>T	10.37:g.115891096C>A		58	0		96	44	NM_018017	0	0	0	0	0	Q2M2V6|Q3ZB81|Q6NS91|Q7RTP1|Q8N117|Q8N3G3|Q8N6C2|Q9NWA3	Splice_Site	SNP	ENST00000369287.3	37	CCDS7587.1	.	.	.	.	.	.	.	.	.	.	C	8.259	0.810659	0.16537	.	.	ENSG00000165813	ENST00000369287;ENST00000428953;ENST00000543782;ENST00000430353	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3907	0.90483	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C10orf118	115881086	1.000000	0.71417	0.999000	0.59377	0.131000	0.20780	7.070000	0.76763	2.855000	0.98099	0.585000	0.79938	.	.		0.358	C10orf118-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050455.1		Intron
RGS10	6001	ucsc.edu;bcgsc.ca;mdanderson.org	37	10	121259635	121259635	+	Missense_Mutation	SNP	T	T	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:121259635T>A	ENST00000369101.3	-	4	539	c.512A>T	c.(511-513)tAt>tTt	p.Y171F	RGS10_ENST00000469575.1_5'UTR|RGS10_ENST00000392865.1_Missense_Mutation_p.Y165F|RGS10_ENST00000369103.2_Missense_Mutation_p.Y179F			O43665	RGS10_HUMAN	regulator of G-protein signaling 10	171					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			breast(2)|large_intestine(1)|lung(3)	6		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00105)|GBM - Glioblastoma multiforme(135;0.195)		TCATGTGTTATAAATTCTGGA	0.423																																					p.Y179F		.											.	RGS10-226	0			c.A536T						.						95.0	99.0	98.0					10																	121259635		2203	4300	6503	SO:0001583	missense	6001	exon5			GTGTTATAAATTC	AF045229	CCDS31294.1, CCDS41572.1	10q25	2007-08-14	2007-08-14		ENSG00000148908	ENSG00000148908		"""Regulators of G-protein signaling"""	9992	protein-coding gene	gene with protein product		602856	"""regulator of G-protein signalling 10"""			8774883	Standard	NM_002925		Approved		uc001leg.3	O43665	OTTHUMG00000019150	ENST00000369101.3:c.512A>T	10.37:g.121259635T>A	ENSP00000358097:p.Tyr171Phe	31	1		34	17	NM_001005339	0	0	12	16	4	A8K408|B1AMR8|Q6IAZ6|Q96GN0	Missense_Mutation	SNP	ENST00000369101.3	37		.	.	.	.	.	.	.	.	.	.	T	27.5	4.840569	0.91197	.	.	ENSG00000148908	ENST00000392865;ENST00000369103;ENST00000369101	T;T;T	0.51325	0.76;0.71;0.73	5.61	5.61	0.85477	.	0.000000	0.64402	D	0.000002	T	0.61073	0.2318	L	0.51422	1.61	0.45502	D	0.99846	D;D;D	0.67145	0.996;0.996;0.993	D;D;D	0.77557	0.98;0.99;0.956	T	0.54708	-0.8253	10	0.15952	T	0.53	-12.5035	16.1025	0.81194	0.0:0.0:0.0:1.0	.	179;165;171	O43665-3;O43665-2;O43665	.;.;RGS10_HUMAN	F	165;179;171	ENSP00000376605:Y165F;ENSP00000358099:Y179F;ENSP00000358097:Y171F	ENSP00000358097:Y171F	Y	-	2	0	RGS10	121249625	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.505000	0.66981	2.254000	0.74563	0.533000	0.62120	TAT	.		0.423	RGS10-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050655.1	NM_002925	
FGFR2	2263	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	123324025	123324025	+	Missense_Mutation	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:123324025T>C	ENST00000358487.5	-	4	717	c.445A>G	c.(445-447)Aac>Gac	p.N149D	FGFR2_ENST00000369059.1_Intron|FGFR2_ENST00000369060.4_Missense_Mutation_p.N149D|FGFR2_ENST00000356226.4_Intron|FGFR2_ENST00000357555.5_Missense_Mutation_p.N60D|FGFR2_ENST00000369056.1_Missense_Mutation_p.N149D|FGFR2_ENST00000351936.6_Missense_Mutation_p.N149D|FGFR2_ENST00000360144.3_Missense_Mutation_p.N60D|FGFR2_ENST00000369061.4_Missense_Mutation_p.N149D|FGFR2_ENST00000457416.2_Missense_Mutation_p.N149D|FGFR2_ENST00000346997.2_Missense_Mutation_p.N149D|FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000359354.2_Missense_Mutation_p.N149D	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	149					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|bone development (GO:0060348)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of a nerve (GO:0048755)|bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|coronal suture morphogenesis (GO:0060365)|digestive tract development (GO:0048565)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic organ development (GO:0048568)|embryonic organ morphogenesis (GO:0048562)|embryonic pattern specification (GO:0009880)|endodermal digestive tract morphogenesis (GO:0061031)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis morphogenesis (GO:0048730)|epithelial cell differentiation (GO:0030855)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in hemopoiesis (GO:0035603)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow (GO:0035602)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow (GO:0035604)|gland morphogenesis (GO:0022612)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lacrimal gland development (GO:0032808)|lateral sprouting from an epithelium (GO:0060601)|lens fiber cell development (GO:0070307)|limb bud formation (GO:0060174)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|mammary gland bud formation (GO:0060615)|membranous septum morphogenesis (GO:0003149)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesodermal cell differentiation (GO:0048333)|midbrain development (GO:0030901)|morphogenesis of embryonic epithelium (GO:0016331)|multicellular organism growth (GO:0035264)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|orbitofrontal cortex development (GO:0021769)|organ growth (GO:0035265)|organ morphogenesis (GO:0009887)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|post-embryonic development (GO:0009791)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|prostate gland morphogenesis (GO:0060512)|protein autophosphorylation (GO:0046777)|pyramidal neuron development (GO:0021860)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of morphogenesis of a branching structure (GO:0060688)|regulation of multicellular organism growth (GO:0040014)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoblast proliferation (GO:0033688)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of smoothened signaling pathway (GO:0008589)|reproductive structure development (GO:0048608)|skeletal system morphogenesis (GO:0048705)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|synaptic vesicle transport (GO:0048489)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular zone neuroblast division (GO:0021847)	cell cortex (GO:0005938)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Thalidomide(DB01041)	CTCTTGTTGTTACTGTTCTCA	0.502		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome																												p.N149D		.		Dom	yes		10	10q26	2263	fibroblast growth factor receptor 2	yes	E	.	FGFR2-2607	0			c.A445G						.						262.0	204.0	223.0					10																	123324025		2203	4300	6503	SO:0001583	missense	2263	exon3	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	TGTTGTTACTGTT	AK026508	CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1	10q25.3-q26	2013-01-11	2008-08-01		ENSG00000066468	ENSG00000066468		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3689	protein-coding gene	gene with protein product	"""Crouzon syndrome"", ""Pfeiffer syndrome"""	176943	"""bacteria-expressed kinase"", ""keratinocyte growth factor receptor"", ""craniofacial dysostosis 1"", ""Jackson-Weiss syndrome"""	KGFR, BEK, CFD1, JWS			Standard	NM_022970		Approved	CEK3, TK14, TK25, ECT1, K-SAM, CD332	uc021pzy.1	P21802	OTTHUMG00000019175	ENST00000358487.5:c.445A>G	10.37:g.123324025T>C	ENSP00000351276:p.Asn149Asp	91	0		128	55	NM_001144914	0	0	0	0	0	B4DFC2|E7EVR6|E9PCR0|P18443|Q01742|Q12922|Q14300|Q14301|Q14302|Q14303|Q14304|Q14305|Q14672|Q14718|Q14719|Q1KHY5|Q86YI4|Q8IXC7|Q96KL9|Q96KM0|Q96KM1|Q96KM2|Q9NZU2|Q9NZU3|Q9UD01|Q9UD02|Q9UIH3|Q9UIH4|Q9UIH5|Q9UIH6|Q9UIH7|Q9UIH8|Q9UM87|Q9UMC6|Q9UNS7|Q9UQH7|Q9UQH8|Q9UQH9|Q9UQI0	Missense_Mutation	SNP	ENST00000358487.5	37	CCDS31298.1	.	.	.	.	.	.	.	.	.	.	T	8.785	0.929160	0.18131	.	.	ENSG00000066468	ENST00000357555;ENST00000369062;ENST00000369061;ENST00000358487;ENST00000369060;ENST00000346997;ENST00000457416;ENST00000351936;ENST00000360144;ENST00000369056;ENST00000369058;ENST00000336553;ENST00000359354	T;T;T;T;T;T;T;T;T;T;T;T	0.79141	-1.17;-1.24;-1.16;-1.21;-1.16;-1.15;-1.15;-1.15;-1.14;-1.14;-1.16;-0.63	3.67	1.35	0.21983	.	0.216592	0.39475	N	0.001356	T	0.68054	0.2959	M	0.64997	1.995	0.27034	N	0.964175	B;B;B;B;B;B;B;B;B;B	0.21821	0.061;0.001;0.017;0.002;0.015;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B;B;B	0.23150	0.044;0.003;0.028;0.004;0.032;0.003;0.0;0.002;0.003;0.002	T	0.51841	-0.8654	10	0.15066	T	0.55	.	7.0089	0.24851	0.0:0.1885:0.0:0.8115	.	168;168;149;168;149;60;149;168;60;149	D3DRD9;D3DRD4;B5A960;D3DRD5;P21802-18;P21802-21;P21802;D3DRE0;P21802-22;P21802-17	.;.;.;.;.;.;FGFR2_HUMAN;.;.;.	D	60;149;149;149;149;149;149;149;60;149;149;60;149	ENSP00000350166:N60D;ENSP00000358057:N149D;ENSP00000351276:N149D;ENSP00000358056:N149D;ENSP00000263451:N149D;ENSP00000410294:N149D;ENSP00000309878:N149D;ENSP00000353262:N60D;ENSP00000358052:N149D;ENSP00000358054:N149D;ENSP00000337665:N60D;ENSP00000352309:N149D	ENSP00000337665:N60D	N	-	1	0	FGFR2	123314015	1.000000	0.71417	0.973000	0.42090	0.427000	0.31564	2.249000	0.43169	0.288000	0.22398	0.523000	0.50628	AAC	.		0.502	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050715.1	NM_022976, NM_000141	
HMX2	3167	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	10	124909596	124909596	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:124909596C>T	ENST00000339992.3	+	2	1036	c.779C>T	c.(778-780)tCg>tTg	p.S260L		NM_005519.1	NP_005510.1	A2RU54	HMX2_HUMAN	H6 family homeobox 2	260					brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|kidney(1)|lung(4)|prostate(1)	7		all_neural(114;0.169)|Colorectal(57;0.207)|Glioma(114;0.222)		Colorectal(40;0.123)|COAD - Colon adenocarcinoma(40;0.141)		AGCAACCTCTCGGCCTTACCT	0.687																																					p.S260L		.											.	HMX2-90	0			c.C779T						.						9.0	11.0	10.0					10																	124909596		2183	4265	6448	SO:0001583	missense	3167	exon2			ACCTCTCGGCCTT		CCDS31305.1	10q26.13	2011-06-20	2007-07-09		ENSG00000188816	ENSG00000188816		"""Homeoboxes / ANTP class : NKL subclass"""	5018	protein-coding gene	gene with protein product		600647	"""homeo box (H6 family) 2"""			7647458	Standard	XM_005269743		Approved	NKX5-2	uc001lhc.1	A2RU54	OTTHUMG00000019198	ENST00000339992.3:c.779C>T	10.37:g.124909596C>T	ENSP00000341108:p.Ser260Leu	14	0		74	29	NM_005519	0	0	0	1	1	B2RNV5	Missense_Mutation	SNP	ENST00000339992.3	37	CCDS31305.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.413986	0.83449	.	.	ENSG00000188816	ENST00000339992	D	0.90444	-2.67	5.3	5.3	0.74995	.	0.126603	0.53938	D	0.000041	D	0.83681	0.5307	L	0.29908	0.895	0.53688	D	0.999979	P	0.51653	0.947	B	0.38428	0.273	T	0.82422	-0.0465	10	0.17832	T	0.49	.	17.3148	0.87220	0.0:1.0:0.0:0.0	.	260	A2RU54	HMX2_HUMAN	L	260	ENSP00000341108:S260L	ENSP00000341108:S260L	S	+	2	0	HMX2	124899586	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.218000	0.77991	2.741000	0.93983	0.655000	0.94253	TCG	.		0.687	HMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050841.1	XM_370580	
DHX32	55760	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	127555708	127555708	+	Silent	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:127555708C>T	ENST00000284690.3	-	2	817	c.327G>A	c.(325-327)caG>caA	p.Q109Q	DHX32_ENST00000284688.6_Silent_p.Q109Q	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	109	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				CGCCCCCGTGCTGGTAGTGGA	0.502																																					p.Q109Q		.											.	DHX32-290	0			c.G327A						.						87.0	74.0	78.0					10																	127555708		2203	4300	6503	SO:0001819	synonymous_variant	55760	exon2			CCCGTGCTGGTAG		CCDS7652.1	10q26.11-q26.2	2008-01-07	2004-01-29	2004-01-30	ENSG00000089876	ENSG00000089876		"""DEAH-boxes"""	16717	protein-coding gene	gene with protein product		607960	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32"""	DDX32			Standard	NM_018180		Approved	FLJ10889, FLJ10694, DHLP1	uc001ljf.1	Q7L7V1	OTTHUMG00000019238	ENST00000284690.3:c.327G>A	10.37:g.127555708C>T		116	0		138	53	NM_018180	0	0	19	35	16	A8MSV2|D3DRF9|Q49AG5|Q5T3L0|Q5T3L5|Q96NY1|Q9BUN0|Q9H769|Q9NSL5|Q9NV74|Q9NVJ7	Silent	SNP	ENST00000284690.3	37	CCDS7652.1																																																																																			.		0.502	DHX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050945.2	NM_018180	
PWWP2B	170394	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	134219477	134219477	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:134219477G>A	ENST00000305233.5	+	2	1532	c.1473G>A	c.(1471-1473)ggG>ggA	p.G491G	PWWP2B_ENST00000368609.4_Silent_p.G491G	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	491	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.									central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		TGGCCGTGGGGGACATCGTCT	0.637																																					p.G491G		.											.	PWWP2B-90	0			c.G1473A						.						167.0	162.0	164.0					10																	134219477		2202	4300	6502	SO:0001819	synonymous_variant	170394	exon2			CGTGGGGGACATC	AK128663	CCDS7667.2	10q26.3	2009-06-03	2007-10-22	2007-10-22	ENSG00000171813	ENSG00000171813			25150	protein-coding gene	gene with protein product			"""PWWP domain containing 2"""	PWWP2			Standard	NM_001098637		Approved	bA432J24.1, FLJ46823	uc001lll.4	Q6NUJ5	OTTHUMG00000019286	ENST00000305233.5:c.1473G>A	10.37:g.134219477G>A		263	1		659	431	NM_001098637	1	0	41	131	89	A6NM90|B5MDQ1|H9KV61|Q5SZI0|Q6ZQX5|Q96F43	Silent	SNP	ENST00000305233.5	37	CCDS7667.2																																																																																			.		0.637	PWWP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051075.3	NM_138499	
GPR123	84435	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	134942688	134942688	+	Silent	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:134942688C>T	ENST00000392607.3	+	7	1792	c.1356C>T	c.(1354-1356)cgC>cgT	p.R452R	GPR123_ENST00000392606.2_Silent_p.R355R|GPR123_ENST00000607359.1_Silent_p.R1171R	NM_001083909.1	NP_001077378.1	Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	452					G-protein coupled receptor signaling pathway (GO:0007186)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		GCAGCTCGCGCACAGACAGCC	0.692																																					p.R452R		.											.	GPR123-90	0			c.C1356T						.						10.0	11.0	11.0					10																	134942688		2050	4073	6123	SO:0001819	synonymous_variant	84435	exon7			CTCGCGCACAGAC	AB058731	CCDS41580.1	10q26	2014-08-08			ENSG00000197177	ENSG00000197177		"""-"", ""GPCR / Class B : Orphans"""	13838	protein-coding gene	gene with protein product		612302				12565841	Standard	XM_005252695		Approved	KIAA1828	uc001llw.3	Q86SQ6	OTTHUMG00000019304	ENST00000392607.3:c.1356C>T	10.37:g.134942688C>T		66	1		236	114	NM_001083909	0	0	0	0	0	A5HL16|A6NG50|Q5T234|Q86SN7|Q96JJ9	Silent	SNP	ENST00000392607.3	37	CCDS41580.1																																																																																			.		0.692	GPR123-003	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051113.2		
ADAM8	101	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	135086884	135086884	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:135086884G>A	ENST00000445355.3	-	6	497	c.447C>T	c.(445-447)ggC>ggT	p.G149G	ADAM8_ENST00000559180.1_5'UTR|ADAM8_ENST00000485491.2_Silent_p.G110G|ADAM8_ENST00000415217.3_Silent_p.G149G	NM_001109.4	NP_001100.3	P78325	ADAM8_HUMAN	ADAM metallopeptidase domain 8	149					activation of MAPK activity involved in innate immune response (GO:0035419)|angiogenesis (GO:0001525)|cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|leukocyte migration involved in inflammatory response (GO:0002523)|lymphocyte chemotaxis (GO:0048247)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of bone resorption (GO:0045780)|positive regulation of cell adhesion (GO:0045785)|positive regulation of eosinophil migration (GO:2000418)|positive regulation of fibronectin-dependent thymocyte migration (GO:2000415)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of neutrophil extravasation (GO:2000391)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein processing (GO:0010954)|positive regulation of protein secretion (GO:0050714)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000309)|regulation of cell-cell adhesion (GO:0022407)|single organismal cell-cell adhesion (GO:0016337)	alpha9-beta1 integrin-ADAM8 complex (GO:0071133)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dense core granule membrane (GO:0032127)|integral component of plasma membrane (GO:0005887)|phagolysosome (GO:0032010)|plasma membrane (GO:0005886)|podosome (GO:0002102)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein self-association (GO:0043621)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)	17		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;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)		CGTGCCGTCCGCCCTCGCCAC	0.697																																					p.G149G		.											.	ADAM8-90	0			c.C447T						.						13.0	13.0	13.0					10																	135086884		2085	4138	6223	SO:0001819	synonymous_variant	101	exon6			CCGTCCGCCCTCG	D26579	CCDS31319.2, CCDS58102.1, CCDS58103.1	10q26.3	2014-03-20	2005-08-18		ENSG00000151651	ENSG00000151651		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	215	protein-coding gene	gene with protein product		602267	"""a disintegrin and metalloproteinase domain 8"""			9126482	Standard	NM_001109		Approved	CD156, MS2, CD156a	uc021qbe.1	P78325	OTTHUMG00000019309	ENST00000445355.3:c.447C>T	10.37:g.135086884G>A		114	0		242	100	NM_001164489	0	0	0	0	0	B4DVM6|H0YL36|H0YLR0|H0YN39	Silent	SNP	ENST00000445355.3	37	CCDS31319.2																																																																																			.		0.697	ADAM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051118.4	NM_001109	
PHRF1	57661	broad.mit.edu	37	11	610978	610978	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr11:610978G>A	ENST00000264555.5	+	17	4830	c.4702G>A	c.(4702-4704)Gag>Aag	p.E1568K	PHRF1_ENST00000416188.2_Missense_Mutation_p.E1567K|PHRF1_ENST00000413872.2_Missense_Mutation_p.E1566K|PHRF1_ENST00000533464.1_Missense_Mutation_p.E1564K	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	1568					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						GCACATGCAGGAGCGTGCTGT	0.592																																					p.E1567K		.											.	PHRF1-22	0			c.G4699A						.						87.0	87.0	87.0					11																	610978		2201	4300	6501	SO:0001583	missense	57661	exon17			ATGCAGGAGCGTG	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.4702G>A	11.37:g.610978G>A	ENSP00000264555:p.Glu1568Lys	181	0		133	3	NM_020901	0	0	11	11	0	A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Missense_Mutation	SNP	ENST00000264555.5	37		.	.	.	.	.	.	.	.	.	.	G	16.58	3.162760	0.57368	.	.	ENSG00000070047	ENST00000264555;ENST00000413872;ENST00000416188;ENST00000533464	T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07	4.34	4.34	0.51931	.	0.000000	0.36409	N	0.002609	T	0.80994	0.4731	M	0.82193	2.58	0.50467	D	0.999872	D;D;D;D	0.76494	0.982;0.999;0.998;0.996	D;D;D;D	0.85130	0.952;0.997;0.975;0.944	D	0.84824	0.0798	10	0.87932	D	0	-37.3492	17.7367	0.88395	0.0:0.0:1.0:0.0	.	1564;1566;1567;1568	E9PJ24;F8WEF5;Q9P1Y6-3;Q9P1Y6	.;.;.;PHRF1_HUMAN	K	1568;1566;1567;1564	ENSP00000264555:E1568K;ENSP00000388589:E1566K;ENSP00000410626:E1567K;ENSP00000431870:E1564K	ENSP00000264555:E1568K	E	+	1	0	PHRF1	600978	1.000000	0.71417	1.000000	0.80357	0.252000	0.25951	7.978000	0.88095	2.370000	0.80446	0.561000	0.74099	GAG	.		0.592	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382133.1	NM_020901	
DRD4	1815	hgsc.bcm.edu	37	11	637463	637463	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr11:637463G>A	ENST00000176183.5	+	1	171	c.159G>A	c.(157-159)tcG>tcA	p.S53S		NM_000797.3	NP_000788.2	P21917	DRD4_HUMAN	dopamine receptor D4	53					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adult locomotory behavior (GO:0008344)|arachidonic acid secretion (GO:0050482)|behavioral fear response (GO:0001662)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|cellular calcium ion homeostasis (GO:0006874)|circadian rhythm (GO:0007623)|dopamine metabolic process (GO:0042417)|dopamine receptor signaling pathway (GO:0007212)|fear response (GO:0042596)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of protein secretion (GO:0050709)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|olfactory learning (GO:0008355)|photoperiodism (GO:0009648)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of kinase activity (GO:0033674)|positive regulation of penile erection (GO:0060406)|positive regulation of sodium:proton antiporter activity (GO:0032417)|regulation of calcium-mediated signaling (GO:0050848)|regulation of circadian rhythm (GO:0042752)|regulation of dopamine metabolic process (GO:0042053)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of neurotransmitter secretion (GO:0046928)|response to amphetamine (GO:0001975)|response to histamine (GO:0034776)|response to steroid hormone (GO:0048545)|retina development in camera-type eye (GO:0060041)|short-term memory (GO:0007614)|social behavior (GO:0035176)|synaptic transmission, dopaminergic (GO:0001963)	cell cortex (GO:0005938)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|vesicle membrane (GO:0012506)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)|identical protein binding (GO:0042802)|potassium channel regulator activity (GO:0015459)|SH3 domain binding (GO:0017124)			NS(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.36e-28)|Epithelial(43;2.59e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Dopamine(DB00988)|Iloperidone(DB04946)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Ziprasidone(DB00246)	CGGGGAACTCGCTCGTGTGCG	0.751																																					p.S53S		.											.	DRD4-90	0			c.G159A						.						14.0	10.0	11.0					11																	637463		2123	4147	6270	SO:0001819	synonymous_variant	1815	exon1			GAACTCGCTCGTG	L12398	CCDS7710.1	11p15.5	2012-08-08			ENSG00000069696	ENSG00000069696		"""GPCR / Class A : Dopamine receptors"""	3025	protein-coding gene	gene with protein product		126452					Standard	NM_000797		Approved		uc001lqp.2	P21917	OTTHUMG00000133312	ENST00000176183.5:c.159G>A	11.37:g.637463G>A		2	0		26	19	NM_000797	0	0	0	2	2	B0M0J7|Q7Z7Q5|Q8NGM5	Silent	SNP	ENST00000176183.5	37	CCDS7710.1																																																																																			.		0.751	DRD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257109.1	NM_000797	
DEAF1	10522	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	686974	686974	+	Nonsense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr11:686974G>A	ENST00000382409.3	-	5	1172	c.688C>T	c.(688-690)Cag>Tag	p.Q230*	DEAF1_ENST00000338675.6_Intron	NM_021008.2	NP_066288.2	O75398	DEAF1_HUMAN	DEAF1 transcription factor	230	SAND. {ECO:0000255|PROSITE- ProRule:PRU00185}.				anatomical structure morphogenesis (GO:0009653)|embryonic skeletal system development (GO:0048706)|germ cell development (GO:0007281)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		TTCTCCCCCTGCTTGATGCAC	0.612																																					p.Q230X		.											.	DEAF1-90	0			c.C688T						.						170.0	121.0	138.0					11																	686974		2203	4300	6503	SO:0001587	stop_gained	10522	exon5			CCCCCTGCTTGAT	AF049460	CCDS31327.1	11p15.5	2013-01-10	2013-01-10		ENSG00000177030	ENSG00000177030		"""Zinc fingers, MYND-type"""	14677	protein-coding gene	gene with protein product		602635	"""deformed epidermal autoregulatory factor 1 (Drosophila)"""			9773984	Standard	XR_428838		Approved	NUDR, SPN, ZMYND5	uc001lqq.1	O75398	OTTHUMG00000165363	ENST00000382409.3:c.688C>T	11.37:g.686974G>A	ENSP00000371846:p.Gln230*	166	1		116	76	NM_021008	0	0	6	8	2	A8K1F8|A8K5R8|C7T5V5|O15152|O75399|O75510|O75511|O75512|O75513|Q9UET1	Nonsense_Mutation	SNP	ENST00000382409.3	37	CCDS31327.1	.	.	.	.	.	.	.	.	.	.	G	37	6.440790	0.97568	.	.	ENSG00000177030	ENST00000382409;ENST00000359958;ENST00000388804	.	.	.	5.07	5.07	0.68467	.	0.296515	0.33854	N	0.004487	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-10.7997	17.5987	0.88020	0.0:0.0:1.0:0.0	.	.	.	.	X	230;216;153	.	ENSP00000353043:Q216X	Q	-	1	0	DEAF1	676974	1.000000	0.71417	1.000000	0.80357	0.235000	0.25334	9.507000	0.97996	2.507000	0.84556	0.655000	0.94253	CAG	.		0.612	DEAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383614.3	NM_021008	
MUC2	4583	bcgsc.ca	37	11	1093295	1093295	+	Missense_Mutation	SNP	C	C	T	rs200837746|rs200145328		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr11:1093295C>T	ENST00000441003.2	+	30	5141	c.5114C>T	c.(5113-5115)aCt>aTt	p.T1705I	MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000361558.6_Intron|MUC2_ENST00000359061.5_Missense_Mutation_p.T1672I	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0	Approximate repeats.				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)		p.T1705I(1)|p.T1672I(1)		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)	accaccaccactacggtgacc	0.642																																					p.T1705I		.											.	MUC2-90	2	Substitution - Missense(2)	large_intestine(2)	c.C5114T						.						113.0	161.0	144.0					11																	1093295		1882	3466	5348	SO:0001583	missense	4583	exon30			CCACCACTACGGT	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.5114C>T	11.37:g.1093295C>T	ENSP00000415183:p.Thr1705Ile	102	2		97	12	NM_002457	0	0	0	0	0	Q14878	Missense_Mutation	SNP	ENST00000441003.2	37		.	.	.	.	.	.	.	.	.	.	C	0.775	-0.764347	0.02996	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.11277	3.02;2.79	1.6	-0.698	0.11280	.	0.547305	0.11728	U	0.535177	T	0.05868	0.0153	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.38457	-0.9660	9	0.34782	T	0.22	.	3.0673	0.06219	0.0:0.5189:0.2842:0.1969	.	1705	E7EUV1	.	I	1705;1672	ENSP00000415183:T1705I;ENSP00000351956:T1672I	ENSP00000351956:T1672I	T	+	2	0	MUC2	1083295	0.002000	0.14202	0.001000	0.08648	0.001000	0.01503	0.065000	0.14466	-0.392000	0.07751	-1.238000	0.01547	ACT	.		0.642	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457	
MUC5B	727897	bcgsc.ca	37	11	1253969	1253969	+	Silent	SNP	A	A	G	rs72846370		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr11:1253969A>G	ENST00000529681.1	+	17	2092	c.2034A>G	c.(2032-2034)gtA>gtG	p.V678V	MUC5B_ENST00000447027.1_Silent_p.V681V	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	678					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCAAGGGCGTACAGCTCAGCG	0.682																																					p.V678V		.											.	.	0			c.A2034G						.						23.0	26.0	25.0					11																	1253969		2131	4242	6373	SO:0001819	synonymous_variant	727897	exon17			GGGCGTACAGCTC	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.2034A>G	11.37:g.1253969A>G		66	0		117	16	NM_002458	0	0	0	0	0	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	CCDS44515.2																																																																																			.		0.682	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093	
MUC5B	727897	hgsc.bcm.edu;bcgsc.ca	37	11	1253976	1253976	+	Missense_Mutation	SNP	A	A	G	rs76956995		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr11:1253976A>G	ENST00000529681.1	+	17	2099	c.2041A>G	c.(2041-2043)Agc>Ggc	p.S681G	MUC5B_ENST00000447027.1_Missense_Mutation_p.S684G	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	681					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CGTACAGCTCAGCGACTGGAG	0.687																																					p.S681G		.											.	.	0			c.A2041G						.						22.0	25.0	24.0					11																	1253976		2121	4235	6356	SO:0001583	missense	727897	exon17			CAGCTCAGCGACT	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.2041A>G	11.37:g.1253976A>G	ENSP00000436812:p.Ser681Gly	56	0		107	14	NM_002458	0	0	0	0	0	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	A	5.230	0.228008	0.09916	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.76578	-1.03;-1.03	4.6	-7.0	0.01599	Uncharacterised domain, cysteine-rich (2);	.	.	.	.	T	0.70605	0.3243	N	0.25144	0.715	0.09310	N	1	B;D;D	0.59357	0.425;0.985;0.985	B;P;P	0.54499	0.131;0.675;0.754	T	0.69614	-0.5098	9	0.87932	D	0	.	10.9271	0.47197	0.2958:0.5687:0.1355:0.0	.	681;1340;684	Q9HC84;A7Y9J9;E9PBJ0	MUC5B_HUMAN;.;.	G	681;684;682;717	ENSP00000436812:S681G;ENSP00000415793:S684G	ENSP00000343037:S682G	S	+	1	0	MUC5B	1210552	0.000000	0.05858	0.011000	0.14972	0.067000	0.16453	-4.642000	0.00204	-1.098000	0.03038	0.260000	0.18958	AGC	.		0.687	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093	
MUC5B	727897	hgsc.bcm.edu	37	11	1253980	1253980	+	Missense_Mutation	SNP	A	A	G	rs202127660		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr11:1253980A>G	ENST00000529681.1	+	17	2103	c.2045A>G	c.(2044-2046)gAc>gGc	p.D682G	MUC5B_ENST00000447027.1_Missense_Mutation_p.D685G	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	682					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CAGCTCAGCGACTGGAGGGAC	0.682																																					p.D682G		.											.	.	0			c.A2045G						.						21.0	24.0	23.0					11																	1253980		2116	4228	6344	SO:0001583	missense	727897	exon17			TCAGCGACTGGAG	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.2045A>G	11.37:g.1253980A>G	ENSP00000436812:p.Asp682Gly	50	0		96	9	NM_002458	0	0	0	0	0	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	A	7.541	0.660740	0.14645	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.76060	-0.99;-0.99	4.6	2.72	0.32119	Uncharacterised domain, cysteine-rich (2);	.	.	.	.	T	0.50103	0.1596	N	0.02960	-0.455	0.24874	N	0.992269	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.45920	-0.9228	9	0.87932	D	0	.	8.6635	0.34108	0.2416:0.0:0.7584:0.0	.	682;1341;685	Q9HC84;A7Y9J9;E9PBJ0	MUC5B_HUMAN;.;.	G	682;685;683;718	ENSP00000436812:D682G;ENSP00000415793:D685G	ENSP00000343037:D683G	D	+	2	0	MUC5B	1210556	0.999000	0.42202	0.632000	0.29296	0.070000	0.16714	2.607000	0.46300	0.373000	0.24621	-1.983000	0.00453	GAC	.		0.682	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093	
OR52D1	390066	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	5510498	5510498	+	Missense_Mutation	SNP	G	G	A	rs571241475|rs386750177	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr11:5510498G>A	ENST00000322641.5	+	1	584	c.562G>A	c.(562-564)Gcc>Acc	p.A188T	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	188					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)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TATGGGCATTGCCCGACTGGC	0.512																																					p.A188T		.											.	OR52D1-68	0			c.G562A						.						298.0	260.0	273.0					11																	5510498		2201	4297	6498	SO:0001583	missense	390066	exon1			GGCATTGCCCGAC	BK004276	CCDS31384.1	11p15.4	2012-08-09			ENSG00000181609	ENSG00000181609		"""GPCR / Class A : Olfactory receptors"""	15212	protein-coding gene	gene with protein product							Standard	NM_001005163		Approved		uc010qzg.2	Q9H346	OTTHUMG00000066895	ENST00000322641.5:c.562G>A	11.37:g.5510498G>A	ENSP00000326232:p.Ala188Thr	90	0		67	53	NM_001005163	0	0	0	0	0	B9EGY9|Q6IFI6	Missense_Mutation	SNP	ENST00000322641.5	37	CCDS31384.1	.	.	.	.	.	.	.	.	.	.	G	17.66	3.444304	0.63178	.	.	ENSG00000181609	ENST00000322641	T	0.00099	8.73	5.58	5.58	0.84498	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000004	T	0.00468	0.0015	M	0.79343	2.45	0.30981	N	0.722485	D	0.89917	1.0	D	0.97110	1.0	T	0.50389	-0.8834	10	0.87932	D	0	.	12.4774	0.55823	0.0794:0.0:0.9206:0.0	.	188	Q9H346	O52D1_HUMAN	T	188	ENSP00000326232:A188T	ENSP00000326232:A188T	A	+	1	0	OR52D1	5467074	0.000000	0.05858	0.999000	0.59377	0.685000	0.39939	-0.013000	0.12678	2.906000	0.99361	0.655000	0.94253	GCC	.		0.512	OR52D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143372.1	NM_001005163	
DNHD1	144132	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	6566347	6566347	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr11:6566347C>T	ENST00000527990.2	+	19	4178	c.4178C>T	c.(4177-4179)gCt>gTt	p.A1393V	DNHD1_ENST00000254579.6_Missense_Mutation_p.A1393V			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	1393					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)		CATGTGCATGCTGTGAGCTTC	0.542																																					p.A1393V		.											.	DNHD1-24	0			c.C4178T						.						104.0	92.0	96.0					11																	6566347		692	1591	2283	SO:0001583	missense	144132	exon21			TGCATGCTGTGAG	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.4178C>T	11.37:g.6566347C>T	ENSP00000436180:p.Ala1393Val	186	0		172	134	NM_144666	0	0	0	0	0	Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	37	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	C	15.27	2.782739	0.49891	.	.	ENSG00000179532	ENST00000254579;ENST00000527990	T;T	0.61392	0.11;0.11	5.01	3.06	0.35304	Dynein heavy chain, domain-2 (1);	0.593097	0.17249	N	0.181234	T	0.46464	0.1394	L	0.39898	1.24	0.27475	N	0.952755	P	0.38300	0.626	B	0.40782	0.34	T	0.30504	-0.9976	10	0.31617	T	0.26	.	7.5048	0.27538	0.3634:0.497:0.1396:0.0	.	1393	Q96M86	DNHD1_HUMAN	V	1393	ENSP00000254579:A1393V;ENSP00000436180:A1393V	ENSP00000254579:A1393V	A	+	2	0	DNHD1	6522923	0.071000	0.21146	0.957000	0.39632	0.737000	0.42083	0.615000	0.24329	2.597000	0.87782	0.563000	0.77884	GCT	.		0.542	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666	
LDHA	3939	broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	18428915	18428915	+	3'UTR	SNP	T	T	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr11:18428915T>G	ENST00000422447.3	+	0	1359				LDHA_ENST00000540430.1_3'UTR|LDHA_ENST00000430553.2_3'UTR|LDHA_ENST00000396222.2_Missense_Mutation_p.C273G|LDHA_ENST00000379412.5_3'UTR|AC084117.3_ENST00000496975.2_RNA|LDHA_ENST00000227157.4_3'UTR	NM_001135239.1|NM_005566.3	NP_001128711.1|NP_005557.1	P00338	LDHA_HUMAN	lactate dehydrogenase A						cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|cellular response to extracellular stimulus (GO:0031668)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	L-lactate dehydrogenase activity (GO:0004459)			central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(4)	12						TTATCTGATCTGTGATTAAAG	0.358																																					p.C273G		.											.	LDHA-650	0			c.T817G						.						93.0	68.0	76.0					11																	18428915		692	1591	2283	SO:0001624	3_prime_UTR_variant	3939	exon7			CTGATCTGTGATT	X02152	CCDS7839.1, CCDS44549.1, CCDS53609.1, CCDS53610.1, CCDS53611.1	11p15.1	2012-10-02			ENSG00000134333	ENSG00000134333	1.1.1.27		6535	protein-coding gene	gene with protein product		150000				3000353	Standard	NM_005566		Approved		uc010rdd.2	P00338	OTTHUMG00000167721	ENST00000422447.3:c.*87T>G	11.37:g.18428915T>G		67	1		46	29	NM_001165415	0	0	26	1655	1629	B4DKQ2|B7Z5E3|D3DQY3|F8W819|Q53G53|Q6IBM7|Q6ZNV1|Q9UDE8|Q9UDE9	Missense_Mutation	SNP	ENST00000422447.3	37	CCDS7839.1	.	.	.	.	.	.	.	.	.	.	T	10.96	1.498353	0.26861	.	.	ENSG00000134333	ENST00000396222	D	0.82803	-1.65	4.67	2.15	0.27550	.	.	.	.	.	T	0.76659	0.4018	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.65397	-0.6178	6	0.40728	T	0.16	.	5.2131	0.15329	0.1568:0.0902:0.0:0.753	.	.	.	.	G	273	ENSP00000379524:C273G	ENSP00000379524:C273G	C	+	1	0	LDHA	18385491	0.001000	0.12720	0.012000	0.15200	0.961000	0.63080	0.908000	0.28545	0.765000	0.33221	0.369000	0.22263	TGT	.		0.358	LDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258172.2	NM_005566	
TMEM86A	144110	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	11	18728522	18728522	+	IGR	SNP	A	A	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr11:18728522A>T	ENST00000280734.2	+	0	3595				IGSF22_ENST00000510673.1_5'Flank|IGSF22_ENST00000513874.1_Missense_Mutation_p.N1173K|RP11-1081L13.4_ENST00000527285.1_RNA	NM_153347.1	NP_699178.1	Q8N2M4	TM86A_HUMAN	transmembrane protein 86A							integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	11						CACCGATTTCATTCCGAGCCA	0.557																																					p.N1173K		.											.	IGSF22-140	0			c.T3519A						.						113.0	92.0	98.0					11																	18728522		692	1591	2283	SO:0001628	intergenic_variant	283284	exon21			GATTTCATTCCGA	BC035692	CCDS7844.1	11p15.1	2005-10-28				ENSG00000151117			26890	protein-coding gene	gene with protein product							Standard	NM_153347		Approved	FLJ90119	uc001moz.1	Q8N2M4			11.37:g.18728522A>T		152	0		121	96	NM_173588	0	0	1	1	0	Q96AJ0	Missense_Mutation	SNP	ENST00000280734.2	37	CCDS7844.1	.	.	.	.	.	.	.	.	.	.	A	17.65	3.441054	0.63067	.	.	ENSG00000179057	ENST00000513874	T	0.31510	1.49	3.77	-2.72	0.05968	.	.	.	.	.	T	0.62780	0.2456	H	0.95850	3.73	0.22081	N	0.999374	D	0.89917	1.0	D	0.77557	0.99	T	0.56007	-0.8050	9	0.87932	D	0	.	10.1232	0.42634	0.4682:0.0:0.5318:0.0	.	1173	D6RGV7	.	K	1173	ENSP00000421191:N1173K	ENSP00000421191:N1173K	N	-	3	2	IGSF22	18685098	0.977000	0.34250	0.164000	0.22755	0.966000	0.64601	0.161000	0.16481	-0.439000	0.07222	0.383000	0.25322	AAT	.		0.557	TMEM86A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387812.1	NM_153347	
PTPN5	84867	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	18765655	18765655	+	Silent	SNP	C	C	T	rs150000507		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr11:18765655C>T	ENST00000358540.2	-	4	619	c.189G>A	c.(187-189)tcG>tcA	p.S63S	PTPN5_ENST00000396170.1_Silent_p.S63S|PTPN5_ENST00000396171.4_Silent_p.S63S|PTPN5_ENST00000396168.1_Silent_p.S39S|PTPN5_ENST00000396167.2_Silent_p.S63S|PTPN5_ENST00000496201.2_5'UTR|PTPN5_ENST00000477854.1_5'Flank	NM_006906.1	NP_008837.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	63					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						CTGAGGGCGGCGAGGGAGGAG	0.647													C|||	1	0.000199681	0.0	0.0	5008	,	,		17104	0.0		0.0	False		,,,				2504	0.001				p.S63S		.											.	PTPN5-229	0			c.G189A						.	C	,,	1,4397	2.1+/-5.4	0,1,2198	106.0	113.0	110.0		189,189,189	-0.3	0.3	11	dbSNP_134	110	2,8584	2.2+/-6.3	0,2,4291	no	coding-synonymous,coding-synonymous,coding-synonymous	PTPN5	NM_001039970.1,NM_006906.1,NM_032781.3	,,	0,3,6489	TT,TC,CC		0.0233,0.0227,0.0231	,,	63/534,63/566,63/566	18765655	3,12981	2199	4293	6492	SO:0001819	synonymous_variant	84867	exon4			GGGCGGCGAGGGA	BC064807	CCDS7845.1, CCDS41626.1, CCDS60746.1	11p15.1	2011-06-09			ENSG00000110786	ENSG00000110786		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9657	protein-coding gene	gene with protein product		176879				1714595	Standard	NM_001278236		Approved	STEP, PTPSTEP	uc001mpc.4	P54829	OTTHUMG00000134304	ENST00000358540.2:c.189G>A	11.37:g.18765655C>T		69	0		42	26	NM_032781	0	0	0	0	0	B3KXG7|B7Z386|B7ZAF5|D3DQY7|Q6P1Z2|Q8N2A1|Q8NDP8	Silent	SNP	ENST00000358540.2	37	CCDS7845.1																																																																																			C|0.999;T|0.001		0.647	PTPN5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259196.2	NM_001039970	
WT1	7490	hgsc.bcm.edu	37	11	32456694	32456694	+	Silent	SNP	C	C	A	rs2234582	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr11:32456694C>A	ENST00000332351.3	-	1	482	c.198G>T	c.(196-198)ccG>ccT	p.P66P	WT1-AS_ENST00000459866.1_RNA|WT1-AS_ENST00000494911.1_RNA|WT1-AS_ENST00000426618.2_RNA|WT1_ENST00000448076.3_Silent_p.P66P|WT1-AS_ENST00000395900.1_RNA|WT1-AS_ENST00000525436.1_RNA|WT1-AS_ENST00000478367.1_RNA	NM_024424.3|NM_024426.4	NP_077742.2|NP_077744	P19544	WT1_HUMAN	Wilms tumor 1	0	Pro-rich.				adrenal cortex formation (GO:0035802)|adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|diaphragm development (GO:0060539)|epithelial cell differentiation (GO:0030855)|germ cell development (GO:0007281)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|gonad development (GO:0008406)|heart development (GO:0007507)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|mesenchymal to epithelial transition (GO:0060231)|metanephric epithelium development (GO:0072207)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of female gonad development (GO:2000195)|negative regulation of metanephric glomerular mesangial cell proliferation (GO:0072302)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of heart growth (GO:0060421)|positive regulation of male gonad development (GO:2000020)|positive regulation of metanephric ureteric bud development (GO:2001076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior mesonephric tubule development (GO:0072166)|regulation of organ formation (GO:0003156)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|sex determination (GO:0007530)|thorax and anterior abdomen determination (GO:0007356)|tissue development (GO:0009888)|ureteric bud development (GO:0001657)|vasculogenesis (GO:0001570)|visceral serous pericardium development (GO:0061032)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|RNA binding (GO:0003723)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)		EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			CCATTTGCTGCGGCTCAGACC	0.761			"""D, Mis, N, F, S"""	EWSR1	"""Wilms, desmoplastic small round cell tumor"""	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome				C|||	1511	0.301717	0.6604	0.1556	5008	,	,		5831	0.0675		0.1839	False		,,,				2504	0.2832				p.P66P		.	yes	Rec	yes	"""Denys-Drash syndrome, Frasier syndrome, Familial Wilms tumor"""	11	11p13	7490	Wilms tumour 1 gene		O	.	WT1-6891	0			c.G198T						.	C	,,	1567,1733		420,727,503	2.0	3.0	3.0		198,198,198	1.2	0.0	11	dbSNP_98	3	1360,5576		235,890,2343	no	coding-synonymous,coding-synonymous,coding-synonymous	WT1	NM_000378.4,NM_024424.3,NM_024426.4	,,	655,1617,2846	AA,AC,CC		19.6078,47.4848,28.5952	,,	66/498,66/515,66/518	32456694	2927,7309	1650	3468	5118	SO:0001819	synonymous_variant	7490	exon1	Familial Cancer Database	WAGR syndrome; ; ;incl.: Early Onset Nephrotic Syndrome-WT1 associated	TTGCTGCGGCTCA		CCDS7878.2, CCDS44561.1, CCDS44562.1, CCDS55750.1, CCDS55751.1	11p13	2014-09-17			ENSG00000184937	ENSG00000184937		"""Zinc fingers, C2H2-type"""	12796	protein-coding gene	gene with protein product		607102		GUD		14681303	Standard	NM_024424		Approved	WAGR, WIT-2, AWT1	uc001mtn.2	P19544	OTTHUMG00000039556	ENST00000332351.3:c.198G>T	11.37:g.32456694C>A		0	0		7	7	NM_024424	0	0	0	0	0	A8K6S1|B3KSA5|Q15881|Q16256|Q16575|Q4VXV4|Q4VXV5|Q4VXV6|Q8IYZ5	Silent	SNP	ENST00000332351.3	37	CCDS7878.2																																																																																			C|0.748;A|0.252		0.761	WT1-001	KNOWN	non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000095436.2	NM_000378	
CCDC73	493860	hgsc.bcm.edu;broad.mit.edu	37	11	32635951	32635951	+	Frame_Shift_Del	DEL	T	T	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr11:32635951delT	ENST00000335185.5	-	16	1956	c.1913delA	c.(1912-1914)aatfs	p.N638fs	CCDC73_ENST00000534415.1_5'Flank	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	638								p.N638fs*18(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					TGGAACAGGATTTTTTTTTAT	0.313																																					p.E638fs		.											.	CCDC73-91	1	Deletion - Frameshift(1)	lung(1)	c.1913delA						.						63.0	57.0	59.0					11																	32635951		1802	4077	5879	SO:0001589	frameshift_variant	493860	exon16			ACAGGATTTTTTT	AK128159	CCDS41630.1	11p13	2006-02-11			ENSG00000186714	ENSG00000186714			23261	protein-coding gene	gene with protein product		612328					Standard	NM_001008391		Approved	NY-SAR-79	uc001mtv.4	Q6ZRK6	OTTHUMG00000166279	ENST00000335185.5:c.1913delA	11.37:g.32635951delT	ENSP00000335325:p.Asn638fs	69	0		58	45	NM_001008391	0	0	0	0	0	Q6P5Q7|Q6ZMW0|Q86WE7	Frame_Shift_Del	DEL	ENST00000335185.5	37	CCDS41630.1																																																																																			.		0.313	CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388874.2	NM_001008391	
AGBL2	79841	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	47701524	47701524	+	Splice_Site	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr11:47701524C>T	ENST00000525123.1	-	13	2302		c.e13+1		AGBL2_ENST00000357610.3_Splice_Site|AGBL2_ENST00000529712.1_Splice_Site|AGBL2_ENST00000298861.4_Splice_Site|AGBL2_ENST00000528244.1_Splice_Site	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2							cytosol (GO:0005829)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						CCCATTTTTACCTTCATTTGG	0.458																																					.		.											.	AGBL2-92	0			c.2016+1G>A						.						99.0	94.0	96.0					11																	47701524		2201	4298	6499	SO:0001630	splice_region_variant	79841	exon14			TTTTTACCTTCAT		CCDS7944.1	11p11.2	2014-06-23			ENSG00000165923	ENSG00000165923			26296	protein-coding gene	gene with protein product	"""cytoplasmic carboxypeptidase 2"""					12738998, 21303978	Standard	NM_024783		Approved	FLJ23598, CCP2	uc001ngg.3	Q5U5Z8	OTTHUMG00000165368	ENST00000525123.1:c.2016+1G>A	11.37:g.47701524C>T		43	0		32	23	NM_024783	0	0	0	0	0	A8MPX2|Q53FV5|Q8IV57|Q9H5C0	Splice_Site	SNP	ENST00000525123.1	37	CCDS7944.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.104028	0.76983	.	.	ENSG00000165923	ENST00000528609;ENST00000525123;ENST00000357610;ENST00000298861;ENST00000528244	.	.	.	5.26	5.26	0.73747	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6467	0.88150	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	AGBL2	47658100	1.000000	0.71417	1.000000	0.80357	0.750000	0.42670	5.330000	0.65899	2.451000	0.82905	0.555000	0.69702	.	.		0.458	AGBL2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383726.2	NM_024783	Intron
OR5M11	219487	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	56310506	56310506	+	Silent	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr11:56310506A>G	ENST00000528616.2	-	1	251	c.228T>C	c.(226-228)aaT>aaC	p.N76N		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	76						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(2)|large_intestine(1)|lung(14)	18						GCGGGGTTGCATTTGATGTAT	0.438																																					p.N76N		.											.	.	0			c.T228C						.						129.0	128.0	129.0					11																	56310506		2155	4273	6428	SO:0001819	synonymous_variant	219487	exon1			GGTTGCATTTGAT	AP002517	CCDS53629.1	11q11	2012-08-09				ENSG00000255223		"""GPCR / Class A : Olfactory receptors"""	15291	protein-coding gene	gene with protein product							Standard	NM_001005245		Approved	OR11-199	uc010rjl.2	Q96RB7		ENST00000528616.2:c.228T>C	11.37:g.56310506A>G		157	0		102	77	NM_001005245	0	0	0	0	0	B2RNL5|B2RNL7	Silent	SNP	ENST00000528616.2	37	CCDS53629.1																																																																																			.		0.438	OR5M11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391608.1	NM_001005245	
DDB1	1642	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	61099071	61099071	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr11:61099071C>T	ENST00000301764.7	-	2	551	c.154G>A	c.(154-156)Gtc>Atc	p.V52I	DAK_ENST00000394900.3_5'Flank|DDB1_ENST00000450997.2_Missense_Mutation_p.V52I	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	52	Interaction with CDT1.|WD repeat beta-propeller A.				DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						ACCTCTTTGACGGGCCGAAGC	0.517								Nucleotide excision repair (NER)																													p.V52I		.											.	DDB1-661	0			c.G154A						.						107.0	89.0	95.0					11																	61099071		2203	4299	6502	SO:0001583	missense	1642	exon2			CTTTGACGGGCCG	AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"""damage-specific DNA binding protein 1 (127kD)"""			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.154G>A	11.37:g.61099071C>T	ENSP00000301764:p.Val52Ile	142	0		91	18	NM_001923	0	0	59	88	29	A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Missense_Mutation	SNP	ENST00000301764.7	37	CCDS31576.1	.	.	.	.	.	.	.	.	.	.	C	16.40	3.111767	0.56398	.	.	ENSG00000167986	ENST00000301764;ENST00000450997;ENST00000543658;ENST00000542337;ENST00000543627	T;T	0.46451	1.44;0.87	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.33265	0.0857	L	0.31526	0.94	0.35913	D	0.831236	P;B;B;B	0.45428	0.858;0.012;0.007;0.002	B;B;B;B	0.41894	0.369;0.006;0.003;0.003	T	0.23404	-1.0189	10	0.07990	T	0.79	-27.8874	19.0104	0.92871	0.0:1.0:0.0:0.0	.	52;52;52;52	B4DG00;F5GY55;B7Z2A1;Q16531	.;.;.;DDB1_HUMAN	I	52	ENSP00000301764:V52I;ENSP00000388705:V52I	ENSP00000301764:V52I	V	-	1	0	DDB1	60855647	1.000000	0.71417	0.998000	0.56505	0.867000	0.49689	7.766000	0.85320	2.487000	0.83934	0.655000	0.94253	GTC	.		0.517	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398816.1	NM_001923	
BEST1	7439	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	61723382	61723382	+	Missense_Mutation	SNP	T	T	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr11:61723382T>A	ENST00000378043.4	+	4	1083	c.440T>A	c.(439-441)gTc>gAc	p.V147D	BEST1_ENST00000301774.9_5'UTR|BEST1_ENST00000378042.3_Missense_Mutation_p.V87D|BEST1_ENST00000449131.2_Missense_Mutation_p.V87D|BEST1_ENST00000526988.1_Missense_Mutation_p.V41D|BEST1_ENST00000435278.2_Missense_Mutation_p.V147D|BEST1_ENST00000534553.1_Missense_Mutation_p.V41D	NM_004183.3	NP_004174.1	O76090	BEST1_HUMAN	bestrophin 1	147					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|detection of light stimulus involved in visual perception (GO:0050908)|ion transmembrane transport (GO:0034220)|regulation of calcium ion transport (GO:0051924)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	basolateral plasma membrane (GO:0016323)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2)	25						AGCACCGCAGTCTACAAGCGC	0.701																																					p.V147D		.											.	BEST1-90	0			c.T440A						.						13.0	13.0	13.0					11																	61723382		2058	4023	6081	SO:0001583	missense	7439	exon4			CCGCAGTCTACAA	AF057170	CCDS31580.1, CCDS44623.1	11q12	2013-02-14	2006-10-18	2006-10-18	ENSG00000167995	ENSG00000167995		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	12703	protein-coding gene	gene with protein product	"""Best disease"""	607854	"""vitelliform macular dystrophy 2"""	VMD2		1302019, 17003041	Standard	NM_004183		Approved	BMD, BEST, RP50	uc001nsr.2	O76090	OTTHUMG00000167469	ENST00000378043.4:c.440T>A	11.37:g.61723382T>A	ENSP00000367282:p.Val147Asp	67	0		139	95	NM_004183	0	0	0	3	3	A8K0W6|B7Z3J8|B7Z736|O75904|Q53YQ9|Q8IUR9|Q8IZ80	Missense_Mutation	SNP	ENST00000378043.4	37	CCDS31580.1	.	.	.	.	.	.	.	.	.	.	T	29.9	5.047212	0.93740	.	.	ENSG00000167995	ENST00000378043;ENST00000378042;ENST00000534553;ENST00000435278;ENST00000449131;ENST00000526988	D;D;D;D;D;D	0.98762	-5.12;-5.12;-5.12;-5.12;-5.12;-5.12	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	D	0.99429	0.9798	H	0.96889	3.9	0.80722	D	1	D;D;D;D;D;D	0.89917	0.996;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.985;0.984;0.997;0.999;1.0;0.999	D	0.98327	1.0531	10	0.87932	D	0	-30.9223	14.6133	0.68531	0.0:0.0:0.0:1.0	.	41;147;87;87;147;87	B7Z1N8;B7Z375;B7Z336;O76090-4;O76090;O76090-3	.;.;.;.;BEST1_HUMAN;.	D	147;87;41;147;87;41	ENSP00000367282:V147D;ENSP00000367281:V87D;ENSP00000431189:V41D;ENSP00000408390:V147D;ENSP00000399709:V87D;ENSP00000433195:V41D	ENSP00000367281:V87D	V	+	2	0	BEST1	61479958	1.000000	0.71417	0.992000	0.48379	0.877000	0.50540	6.171000	0.71926	1.928000	0.55862	0.379000	0.24179	GTC	.		0.701	BEST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394715.1	NM_004183	
SLC22A25	387601	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	62931536	62931536	+	Silent	SNP	A	A	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr11:62931536A>C	ENST00000306494.6	-	9	1403	c.1404T>G	c.(1402-1404)gcT>gcG	p.A468A	SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000535888.1_Intron	NM_199352.3	NP_955384.3			solute carrier family 22, member 25											NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						TGATTCCAGTAGCTCTTCCCC	0.408																																					p.A468A		.											.	SLC22A25-72	0			c.T1404G						.						114.0	126.0	122.0					11																	62931536		2201	4298	6499	SO:0001819	synonymous_variant	387601	exon9			TCCAGTAGCTCTT	AY437532	CCDS31592.1	11q12.3	2014-05-20			ENSG00000196600	ENSG00000196600		"""Solute carriers"""	32935	protein-coding gene	gene with protein product		610792	"""MGI:2442751, MGI:2385316, MGI:3042283, MGI:3645714, MGI:3605624, MGI:2442750"""			17714910	Standard	NM_199352		Approved	UST6, HIMTP, MGC120420	uc001nwr.1	Q6T423	OTTHUMG00000165340	ENST00000306494.6:c.1404T>G	11.37:g.62931536A>C		236	0		152	116	NM_199352	0	0	0	0	0		Silent	SNP	ENST00000306494.6	37	CCDS31592.1																																																																																			.		0.408	SLC22A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383519.3	NM_199352	
SLC22A12	116085	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	64368345	64368345	+	Silent	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr11:64368345C>T	ENST00000377574.1	+	9	2280	c.1533C>T	c.(1531-1533)gcC>gcT	p.A511A	SLC22A12_ENST00000377572.1_Silent_p.A403A|SLC22A12_ENST00000336464.7_Silent_p.A477A|SLC22A12_ENST00000377567.2_Silent_p.A403A|SLC22A12_ENST00000473690.1_Silent_p.A290A	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	511					cellular homeostasis (GO:0019725)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|urate transmembrane transporter activity (GO:0015143)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27					Losartan(DB00678)|Probenecid(DB01032)	GTGGCCTGGCCGCACTGCTTC	0.672																																					p.A511A		.											.	SLC22A12-91	0			c.C1533T						.						91.0	92.0	92.0					11																	64368345		2201	4297	6498	SO:0001819	synonymous_variant	116085	exon9			CCTGGCCGCACTG	AB071863	CCDS8075.1, CCDS60835.1, CCDS60836.1	11q13.1	2013-05-22	2008-01-11		ENSG00000197891	ENSG00000197891		"""Solute carriers"""	17989	protein-coding gene	gene with protein product		607096	"""solute carrier family 22 (organic anion/cation transporter), member 12"""			12024214	Standard	NM_144585		Approved	OAT4L, RST, URAT1	uc009yps.2	Q96S37	OTTHUMG00000045213	ENST00000377574.1:c.1533C>T	11.37:g.64368345C>T		52	0		37	33	NM_144585	0	0	0	0	0	B7WPG1|G3XAN7|Q19PF7|Q19PF8|Q19PF9|Q19PG0|Q6UXW3|Q96DT2	Silent	SNP	ENST00000377574.1	37	CCDS8075.1																																																																																			.		0.672	SLC22A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104966.2	NM_144585	
MEN1	4221	hgsc.bcm.edu	37	11	64572093	64572093	+	Frame_Shift_Del	DEL	G	G	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr11:64572093delG	ENST00000337652.1	-	10	2064	c.1561delC	c.(1561-1563)cggfs	p.R521fs	MEN1_ENST00000377313.1_Frame_Shift_Del_p.R521fs|MAP4K2_ENST00000294066.2_5'Flank|MEN1_ENST00000394374.2_Frame_Shift_Del_p.R521fs|MEN1_ENST00000315422.4_Frame_Shift_Del_p.R516fs|MAP4K2_ENST00000377350.3_5'Flank|MEN1_ENST00000394376.1_Frame_Shift_Del_p.R521fs|MEN1_ENST00000478548.1_5'UTR|MEN1_ENST00000443283.1_Frame_Shift_Del_p.R521fs|MEN1_ENST00000377316.2_Frame_Shift_Del_p.R461fs|MEN1_ENST00000312049.6_Frame_Shift_Del_p.R516fs|MAP4K2_ENST00000468062.1_5'Flank|MEN1_ENST00000377321.1_Frame_Shift_Del_p.R481fs|MEN1_ENST00000377326.3_Frame_Shift_Del_p.R516fs	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	521					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)	p.R516fs*15(3)		NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						GGAGGCTTCCGGGGGGGTCCT	0.716			"""D, Mis, N, F, S"""		"""parathyroid tumors, Pancreatic neuroendocrine tumors"""	"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated																												p.R521fs	Esophageal Squamous(1;83 158 15500 18603 18803 29295)	.	yes	Rec	yes	Multiple Endocrine Neoplasia Type 1	11	11q13	4221	multiple endocrine neoplasia type 1 gene		E	.	MEN1-3017	3	Insertion - Frameshift(3)	parathyroid(2)|large_intestine(1)	c.1561delC	GRCh37	CD972318|CM080439	MEN1	D|M		.						14.0	15.0	15.0					11																	64572093		2198	4290	6488	SO:0001589	frameshift_variant	4221	exon10	Familial Cancer Database	MEN1, Wermer disease;FIHP, FIHPT, HRPT1, Familial Isolated Primary Hyperparathyroidism	GCTTCCGGGGGGG	U93236	CCDS8083.1, CCDS31600.1	11q13	2014-09-17			ENSG00000133895	ENSG00000133895			7010	protein-coding gene	gene with protein product	"""menin"""	613733					Standard	NM_130799		Approved		uc001obn.3	O00255	OTTHUMG00000045366	ENST00000337652.1:c.1561delC	11.37:g.64572093delG	ENSP00000337088:p.Arg521fs	24	1		25	18	NM_130800	0	0	0	0	0	A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Frame_Shift_Del	DEL	ENST00000337652.1	37	CCDS8083.1																																																																																			.		0.716	MEN1-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000143881.1		
ATG2A	23130	bcgsc.ca	37	11	64665394	64665394	+	Silent	SNP	T	T	C	rs61741079	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr11:64665394T>C	ENST00000377264.3	-	35	5023	c.4911A>G	c.(4909-4911)gaA>gaG	p.E1637E	ATG2A_ENST00000421419.2_Silent_p.E1639E	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1637					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						TCTCTACGCCTTCGGCCTGCC	0.672													C|||	430	0.0858626	0.2194	0.0548	5008	,	,		15970	0.0		0.0467	False		,,,				2504	0.0562				p.E1637E		.											.	ATG2A-69	0			c.A4911G						.	C		872,3528		98,676,1426	33.0	39.0	37.0		4911	3.5	0.0	11	dbSNP_129	37	425,8167		12,401,3883	no	coding-synonymous	ATG2A	NM_015104.2		110,1077,5309	CC,CT,TT		4.9465,19.8182,9.9831		1637/1939	64665394	1297,11695	2200	4296	6496	SO:0001819	synonymous_variant	23130	exon35			TACGCCTTCGGCC		CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"""ATG2 autophagy related 2 homolog A (S. cerevisiae)"""			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.4911A>G	11.37:g.64665394T>C		28	0		35	4	NM_015104	0	0	22	22	0	O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Silent	SNP	ENST00000377264.3	37	CCDS31602.1	151	0.06913919413919414	96	0.1951219512195122	22	0.06077348066298342	0	0.0	33	0.04353562005277045	C	3.975	-0.007584	0.07773	0.198182	0.049465	ENSG00000110046	ENST00000418259	.	.	.	4.38	3.46	0.39613	.	.	.	.	.	T	0.00039	0.0001	.	.	.	0.31976	P	0.606561	.	.	.	.	.	.	T	0.10382	-1.0632	3	.	.	.	.	6.8082	0.23788	0.0:0.7876:0.0:0.2124	.	.	.	.	G	1441	.	.	R	-	1	2	ATG2A	64421970	0.007000	0.16637	0.020000	0.16555	0.007000	0.05969	1.715000	0.37971	0.604000	0.29930	-0.215000	0.12644	AGG	T|0.906;C|0.094		0.672	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1	NM_015104	
TCIRG1	10312	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	11	67817504	67817504	+	Frame_Shift_Del	DEL	G	G	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr11:67817504delG	ENST00000265686.3	+	17	2197	c.2089delG	c.(2089-2091)gggfs	p.G698fs	RP11-802E16.3_ENST00000529934.1_RNA|TCIRG1_ENST00000532635.1_Frame_Shift_Del_p.G482fs|RP11-802E16.3_ENST00000534517.1_RNA|RP11-802E16.3_ENST00000526897.1_RNA	NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN	T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3	698					ATP hydrolysis coupled proton transport (GO:0015991)|cellular defense response (GO:0006968)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of cell proliferation (GO:0008284)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	hydrogen ion transmembrane transporter activity (GO:0015078)|transporter activity (GO:0005215)			breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						GGAAAAGGCAGGGGGCCTGGA	0.662																																					p.G697fs		.											.	TCIRG1-227	0			c.2089delG						.						41.0	42.0	42.0					11																	67817504		2199	4294	6493	SO:0001589	frameshift_variant	10312	exon17			AAGGCAGGGGGCC	AF025374	CCDS8177.1, CCDS53670.1	11q13.2	2014-09-17	2006-01-20		ENSG00000110719	ENSG00000110719		"""ATPases / V-type"""	11647	protein-coding gene	gene with protein product	"""T-cell immune response cDNA 7"""	604592	"""T-cell, immune regulator 1"", ""T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein a isoform 3"", ""T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein A3"""			8579597, 9806637	Standard	NM_006019		Approved	TIRC7, OC-116, OC116, ATP6N1C, Atp6i, a3, ATP6V0A3	uc001one.3	Q13488	OTTHUMG00000167358	ENST00000265686.3:c.2089delG	11.37:g.67817504delG	ENSP00000265686:p.Gly698fs	79	0		59	35	NM_006019	0	0	0	0	0	O75877|Q8WVC5	Frame_Shift_Del	DEL	ENST00000265686.3	37	CCDS8177.1																																																																																			.		0.662	TCIRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394305.1	NM_006019	
SUV420H1	51111	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	67938597	67938597	+	Missense_Mutation	SNP	T	T	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr11:67938597T>A	ENST00000304363.4	-	9	1215	c.862A>T	c.(862-864)Aca>Tca	p.T288S	SUV420H1_ENST00000405515.1_Missense_Mutation_p.T288S|SUV420H1_ENST00000401547.2_Missense_Mutation_p.T288S|SUV420H1_ENST00000402789.1_Missense_Mutation_p.T288S|SUV420H1_ENST00000402185.2_Missense_Mutation_p.T265S	NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	288	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				histone H4-K20 trimethylation (GO:0034773)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)|histone-lysine N-methyltransferase activity (GO:0018024)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						ACACATGCTGTATCTCGACCA	0.343																																					p.T288S		.											.	SUV420H1-228	0			c.A862T						.						80.0	79.0	80.0					11																	67938597		2200	4294	6494	SO:0001583	missense	51111	exon9			ATGCTGTATCTCG	AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066		"""Chromatin-modifying enzymes / K-methyltransferases"""	24283	protein-coding gene	gene with protein product		610881				10810093, 11401438	Standard	NM_016028		Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000304363.4:c.862A>T	11.37:g.67938597T>A	ENSP00000305899:p.Thr288Ser	86	0		59	42	NM_017635	0	0	0	13	13	B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Missense_Mutation	SNP	ENST00000304363.4	37	CCDS31623.1	.	.	.	.	.	.	.	.	.	.	T	26.6	4.753008	0.89753	.	.	ENSG00000110066	ENST00000304363;ENST00000401547;ENST00000405515;ENST00000402789;ENST00000402185	T;T;T;T;T	0.81330	-1.48;-1.48;-1.48;-1.48;-1.48	5.79	5.79	0.91817	SET domain (3);	0.000000	0.85682	D	0.000000	D	0.84347	0.5452	L	0.31476	0.935	0.80722	D	1	P;P;D;D	0.89917	0.541;0.804;0.996;1.0	B;P;D;D	0.87578	0.38;0.688;0.98;0.998	D	0.84979	0.0887	10	0.46703	T	0.11	-26.5416	16.1376	0.81497	0.0:0.0:0.0:1.0	.	265;288;288;288	B7WNX0;B5MCB3;Q4FZB7-2;Q4FZB7	.;.;.;SV421_HUMAN	S	288;288;288;288;265	ENSP00000305899:T288S;ENSP00000385965:T288S;ENSP00000385640:T288S;ENSP00000385005:T288S;ENSP00000384724:T265S	ENSP00000305899:T288S	T	-	1	0	SUV420H1	67695173	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.212000	0.71576	0.533000	0.62120	ACA	.		0.343	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318319.1	NM_017635	
P2RY2	5029	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	72945404	72945404	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr11:72945404C>T	ENST00000311131.2	+	3	667	c.200C>T	c.(199-201)gCg>gTg	p.A67V	P2RY2_ENST00000393596.2_Missense_Mutation_p.A67V|P2RY2_ENST00000393597.2_Missense_Mutation_p.A67V	NM_002564.2|NM_176072.1	NP_002555|NP_788086	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	67					cellular ion homeostasis (GO:0006873)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of mucus secretion (GO:0070257)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	ACCTGGAATGCGTCCACCACA	0.617																																					p.A67V		.											.	P2RY2-503	0			c.C200T						.						209.0	170.0	183.0					11																	72945404		2200	4293	6493	SO:0001583	missense	5029	exon3			GGAATGCGTCCAC	U07225	CCDS8219.1	11q13.5-q14.1	2012-08-08				ENSG00000175591		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8541	protein-coding gene	gene with protein product		600041				8159738, 9286708	Standard	NM_002564		Approved	P2U	uc001otj.4	P41231		ENST00000311131.2:c.200C>T	11.37:g.72945404C>T	ENSP00000310305:p.Ala67Val	164	0		217	105	NM_176071	0	0	20	58	38	B2R9W3|Q96EM8	Missense_Mutation	SNP	ENST00000311131.2	37	CCDS8219.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.218594	0.79464	.	.	ENSG00000175591	ENST00000393597;ENST00000311131;ENST00000393596	T;T;T	0.36157	1.27;1.27;1.27	5.17	5.17	0.71159	GPCR, rhodopsin-like superfamily (1);	0.178979	0.48767	D	0.000172	T	0.33702	0.0872	N	0.25789	0.76	0.42555	D	0.993125	P	0.48694	0.914	P	0.45681	0.49	T	0.08493	-1.0719	10	0.40728	T	0.16	.	17.6442	0.88145	0.0:1.0:0.0:0.0	.	67	P41231	P2RY2_HUMAN	V	67	ENSP00000377222:A67V;ENSP00000310305:A67V;ENSP00000377221:A67V	ENSP00000310305:A67V	A	+	2	0	P2RY2	72623052	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	5.980000	0.70516	2.412000	0.81896	0.585000	0.79938	GCG	.		0.617	P2RY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397336.1	NM_176072	
P2RY2	5029	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org|hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	72945486	72945487	+	Missense_Mutation	DNP	CC	CC	AT			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr11:72945486_72945487CC>AT	ENST00000311131.2	+	3	749_750	c.282_283CC>AT	c.(280-285)gcCCgc>gcATgc	p.R95C	P2RY2_ENST00000393596.2_Missense_Mutation_p.R95C|P2RY2_ENST00000393597.2_Missense_Mutation_p.R95C	NM_002564.2|NM_176072.1	NP_002555|NP_788086	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	95					cellular ion homeostasis (GO:0006873)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of mucus secretion (GO:0070257)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	ATTACTACGCCCGCGGCGACCA	0.579																																					p.A94A|p.R95C		.											.	P2RY2-503	0			c.C282A|c.C283T						.																																			SO:0001583	missense	5029	exon3			CTACGCCCGCGGC|TACGCCCGCGGCG	U07225	CCDS8219.1	11q13.5-q14.1	2012-08-08				ENSG00000175591		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8541	protein-coding gene	gene with protein product		600041				8159738, 9286708	Standard	NM_002564		Approved	P2U	uc001otj.4	P41231		Exception_encountered	11.37:g.72945486_72945487delinsAT	ENSP00000310305:p.Arg95Cys	107	0		151|150	75|74	NM_176071	0	0	12	12	0	B2R9W3|Q96EM8	Silent|Missense_Mutation	SNP	ENST00000311131.2	37	CCDS8219.1																																																																																			.		0.579	P2RY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397336.1	NM_176072	
P2RY2	5029	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	72945489	72945489	+	Silent	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr11:72945489C>T	ENST00000311131.2	+	3	752	c.285C>T	c.(283-285)cgC>cgT	p.R95R	P2RY2_ENST00000393596.2_Silent_p.R95R|P2RY2_ENST00000393597.2_Silent_p.R95R	NM_002564.2|NM_176072.1	NP_002555|NP_788086	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	95					cellular ion homeostasis (GO:0006873)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of mucus secretion (GO:0070257)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	ACTACGCCCGCGGCGACCACT	0.577																																					p.R95R		.											.	P2RY2-503	0			c.C285T						.						87.0	78.0	81.0					11																	72945489		2200	4293	6493	SO:0001819	synonymous_variant	5029	exon3			CGCCCGCGGCGAC	U07225	CCDS8219.1	11q13.5-q14.1	2012-08-08				ENSG00000175591		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8541	protein-coding gene	gene with protein product		600041				8159738, 9286708	Standard	NM_002564		Approved	P2U	uc001otj.4	P41231		ENST00000311131.2:c.285C>T	11.37:g.72945489C>T		105	0		150	72	NM_176071	0	0	13	13	0	B2R9W3|Q96EM8	Silent	SNP	ENST00000311131.2	37	CCDS8219.1																																																																																			.		0.577	P2RY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397336.1	NM_176072	
C11orf30	56946	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	76169377	76169377	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr11:76169377G>A	ENST00000529032.1	+	4	396	c.396G>A	c.(394-396)gtG>gtA	p.V132V	C11orf30_ENST00000334736.3_Silent_p.V132V|C11orf30_ENST00000525038.1_Silent_p.V146V|C11orf30_ENST00000533248.1_Silent_p.V146V|C11orf30_ENST00000524490.1_Silent_p.V132V|C11orf30_ENST00000525919.1_Silent_p.V132V|C11orf30_ENST00000343878.3_Silent_p.V132V|C11orf30_ENST00000524767.1_Silent_p.V146V			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	132	Interaction with BRCA2.				chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						CTCTTCCAGTGCCTGCAGAAA	0.428																																					p.V132V		.											.	C11orf30-232	0			c.G396A						.						86.0	83.0	84.0					11																	76169377		2200	4292	6492	SO:0001819	synonymous_variant	56946	exon5			TCCAGTGCCTGCA	AF226047	CCDS8244.1, CCDS73349.1, CCDS73350.1, CCDS73351.1	11q13.5	2010-07-01			ENSG00000158636	ENSG00000158636			18071	protein-coding gene	gene with protein product		608574					Standard	XM_005274106		Approved	EMSY	uc001oxl.3	Q7Z589	OTTHUMG00000165282	ENST00000529032.1:c.396G>A	11.37:g.76169377G>A		101	0		60	43	NM_020193	0	0	0	2	2	B7ZKT8|B7ZKU0|B7ZKU2|Q17RM7|Q4G109|Q8NBU6|Q8TE50|Q9H8I9|Q9NRH0	Silent	SNP	ENST00000529032.1	37	CCDS8244.1																																																																																			.		0.428	C11orf30-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383288.2	NM_020193	
B3GNT6	192134	hgsc.bcm.edu	37	11	76751542	76751542	+	Frame_Shift_Del	DEL	T	T	-	rs11292198		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr11:76751542delT	ENST00000533140.1	+	2	1085	c.947delT	c.(946-948)cttfs	p.L316fs	B3GNT6_ENST00000354301.5_Splice_Site_p.L316fs|B3GNT6_ENST00000421061.1_Intron			O43505	B3GN1_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 (core 3 synthase)	0					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|poly-N-acetyllactosamine biosynthetic process (GO:0030311)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity (GO:0008532)			central_nervous_system(1)|kidney(2)|lung(4)|prostate(1)	8						GGCATGTGTCTTGGAGCGCGC	0.741													T|TT|T|insertion	5008	1.0	1.0	1.0	5008	,	,		12582	1.0		1.0	False		,,,				2504	1.0				.		.											.	.	0			c.946+1T>-						.						1.0	1.0	1.0					11																	76751542		431	917	1348	SO:0001589	frameshift_variant	192134	exon2			TGTGTCTTGGAGC	AB073740	CCDS53681.1	11q13.4	2013-02-19			ENSG00000198488	ENSG00000198488		"""Beta 3-glycosyltransferases"""	24141	protein-coding gene	gene with protein product		615315				11821425	Standard	NM_138706		Approved	B3Gn-T6	uc021qnp.1	Q6ZMB0		ENST00000533140.1:c.947delT	11.37:g.76751542delT	ENSP00000435352:p.Leu316fs	0	0		27	26	NM_138706	0	0	0	0	0	Q4TTN0	Splice_Site	DEL	ENST00000533140.1	37	CCDS53681.1																																																																																			.		0.741	B3GNT6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000382740.2	NM_138706	
B3GNT6	192134	hgsc.bcm.edu	37	11	76751543	76751604	+	Frame_Shift_Del	DEL	TGGAGCGCGCCGGCCTGGCGCCCAGCGGCCACGAGGGCATCCTGGCCCTTCGGCGTGCAGCT	TGGAGCGCGCCGGCCTGGCGCCCAGCGGCCACGAGGGCATCCTGGCCCTTCGGCGTGCAGCT	-	rs544232471|rs34153015|rs182310862|rs11292200|rs77209527|rs539994853|rs201940118|rs11292199|rs200788398	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	TGGAGCGCGCCGGCCTGGCGCCCAGCGGCCACGAGGGCATCCTGGCCCTTCGGCGTGCAGCT	TGGAGCGCGCCGGCCTGGCGCCCAGCGGCCACGAGGGCATCCTGGCCCTTCGGCGTGCAGCT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr11:76751543_76751604delTGGAGCGCGCCGGCCTGGCGCCCAGCGGCCACGAGGGCATCCTGGCCCTTCGGCGTGCAGCT	ENST00000533140.1	+	2	1086_1147	c.948_1009delTGGAGCGCGCCGGCCTGGCGCCCAGCGGCCACGAGGGCATCCTGGCCCTTCGGCGTGCAGCT	c.(946-1011)cttggagcgcgccggcctggcgcccagcggccacgagggcatcctggcccttcggcgtgcagcttgfs	p.LGARRPGAQRPRGHPGPSACSL316fs	B3GNT6_ENST00000354301.5_Splice_Site_p.LERAGLAPSGHEGILALRRAA316fs|B3GNT6_ENST00000421061.1_Splice_Site_p.GARRPGAQRPRGHPGP200fs			O43505	B3GN1_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 (core 3 synthase)	0					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|poly-N-acetyllactosamine biosynthetic process (GO:0030311)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity (GO:0008532)			central_nervous_system(1)|kidney(2)|lung(4)|prostate(1)	8						GCATGTGTCTTGGAGCGCGCCGGCCTGGCGCCCAGCGGCCACGAGGGCATCCTGGCCCTTCGGCGTGCAGCTTGCCTGGCGC	0.71																																					p.316_336del		.											.	.	0			c.947_1006del						.																																			SO:0001589	frameshift_variant	192134	exon3			GTGTCTTGGAGCG	AB073740	CCDS53681.1	11q13.4	2013-02-19			ENSG00000198488	ENSG00000198488		"""Beta 3-glycosyltransferases"""	24141	protein-coding gene	gene with protein product		615315				11821425	Standard	NM_138706		Approved	B3Gn-T6	uc021qnp.1	Q6ZMB0		ENST00000533140.1:c.948_1009delTGGAGCGCGCCGGCCTGGCGCCCAGCGGCCACGAGGGCATCCTGGCCCTTCGGCGTGCAGCT	11.37:g.76751543_76751604delTGGAGCGCGCCGGCCTGGCGCCCAGCGGCCACGAGGGCATCCTGGCCCTTCGGCGTGCAGCT	ENSP00000435352:p.Leu316fs	0	0		26	0	NM_138706	0	0	0	0	0	Q4TTN0	In_Frame_Del	DEL	ENST00000533140.1	37	CCDS53681.1																																																																																			.		0.710	B3GNT6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000382740.2	NM_138706	
C11orf54	28970	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	93488407	93488407	+	Missense_Mutation	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr11:93488407A>G	ENST00000331239.4	+	6	541	c.362A>G	c.(361-363)cAc>cGc	p.H121R	C11orf54_ENST00000528099.1_Missense_Mutation_p.H121R|C11orf54_ENST00000354421.3_Missense_Mutation_p.H121R|C11orf54_ENST00000540113.1_Missense_Mutation_p.H102R|C11orf54_ENST00000528288.1_Missense_Mutation_p.H121R			Q9H0W9	CK054_HUMAN	chromosome 11 open reading frame 54	121					metabolic process (GO:0008152)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|large_intestine(1)|lung(5)	8		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GAAAGTGAACACAAGCCTCCT	0.388																																					p.H121R		.											.	C11orf54-90	0			c.A362G						.						99.0	93.0	95.0					11																	93488407		2201	4298	6499	SO:0001583	missense	28970	exon6			GTGAACACAAGCC	AF092133	CCDS8294.1, CCDS66204.1, CCDS73365.1, CCDS73366.1	11q21	2012-08-09			ENSG00000182919	ENSG00000182919			30204	protein-coding gene	gene with protein product		615810				16522806	Standard	NM_014039		Approved	PTD012	uc001pef.3	Q9H0W9	OTTHUMG00000167452	ENST00000331239.4:c.362A>G	11.37:g.93488407A>G	ENSP00000331209:p.His121Arg	98	0		72	53	NM_014039	0	0	0	12	12	A8K850|Q6FI88|Q6XYB0|Q96EI3|Q96IX1|Q9Y6B4	Missense_Mutation	SNP	ENST00000331239.4	37		.	.	.	.	.	.	.	.	.	.	A	10.84	1.465269	0.26335	.	.	ENSG00000182919	ENST00000528288;ENST00000331239;ENST00000528099;ENST00000354421;ENST00000540113;ENST00000530620;ENST00000524485;ENST00000527363;ENST00000526335;ENST00000533154	.	.	.	5.94	5.94	0.96194	Domain of unknown function DUF1907 (1);	0.433366	0.29799	N	0.011174	T	0.46405	0.1391	L	0.36672	1.1	0.34770	D	0.733635	B;B	0.09022	0.002;0.0	B;B	0.04013	0.001;0.0	T	0.53222	-0.8469	9	0.22706	T	0.39	-6.8502	12.2685	0.54691	0.8585:0.1414:0.0:0.0	.	121;121	Q9H0W9;Q9H0W9-3	CK054_HUMAN;.	R	121;121;121;121;102;102;102;121;121;10	.	ENSP00000331209:H121R	H	+	2	0	C11orf54	93128055	0.934000	0.31675	0.999000	0.59377	0.977000	0.68977	3.868000	0.56055	2.265000	0.75225	0.482000	0.46254	CAC	.		0.388	C11orf54-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394671.1	NM_014039	
GPR83	10888	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	94134121	94134121	+	Missense_Mutation	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr11:94134121T>C	ENST00000243673.2	-	1	464	c.293A>G	c.(292-294)aAg>aGg	p.K98R	GPR83_ENST00000539203.2_Missense_Mutation_p.K98R	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	98					response to glucocorticoid (GO:0051384)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TCGCTGGTTCTTGAAGATGAC	0.522																																					p.K98R		.											.	GPR83-92	0			c.A293G						.						88.0	79.0	82.0					11																	94134121		2201	4298	6499	SO:0001583	missense	10888	exon1			TGGTTCTTGAAGA	AF236081	CCDS8297.1	11q21	2012-08-21	2003-07-30	2003-08-01	ENSG00000123901	ENSG00000123901		"""GPCR / Class A : Orphans"""	4523	protein-coding gene	gene with protein product		605569	"""G protein-coupled receptor 72"""	GPR72		10760605, 11060465	Standard	NM_016540		Approved		uc001pet.2	Q9NYM4	OTTHUMG00000167779	ENST00000243673.2:c.293A>G	11.37:g.94134121T>C	ENSP00000243673:p.Lys98Arg	177	0		111	90	NM_016540	0	0	0	0	0	B0M0K5|Q6NWR4|Q9P1Y8	Missense_Mutation	SNP	ENST00000243673.2	37	CCDS8297.1	.	.	.	.	.	.	.	.	.	.	T	15.75	2.926712	0.52759	.	.	ENSG00000123901	ENST00000243673;ENST00000539203	T;T	0.35236	1.32;1.32	5.08	5.08	0.68730	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.28797	0.0714	N	0.21617	0.685	0.80722	D	1	B	0.33857	0.429	B	0.41988	0.372	T	0.04153	-1.0973	10	0.07644	T	0.81	.	14.0335	0.64632	0.0:0.0:0.0:1.0	.	98	Q9NYM4	GPR83_HUMAN	R	98	ENSP00000243673:K98R;ENSP00000441550:K98R	ENSP00000243673:K98R	K	-	2	0	GPR83	93773769	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.814000	0.86154	1.908000	0.55244	0.374000	0.22700	AAG	.		0.522	GPR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396232.1	NM_016540	
PIH1D2	120379	broad.mit.edu;bcgsc.ca;mdanderson.org	37	11	111943748	111943748	+	Missense_Mutation	SNP	G	G	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr11:111943748G>T	ENST00000280350.4	-	2	373	c.151C>A	c.(151-153)Cag>Aag	p.Q51K	C11orf57_ENST00000280352.9_5'Flank|PIH1D2_ENST00000431456.1_Missense_Mutation_p.Q51K|PIH1D2_ENST00000528775.1_Missense_Mutation_p.Q51K|PIH1D2_ENST00000532211.1_Missense_Mutation_p.Q51K|PIH1D2_ENST00000530641.1_Missense_Mutation_p.Q51K|C11orf57_ENST00000532163.1_5'Flank|C11orf57_ENST00000420986.2_5'Flank|C11orf57_ENST00000530104.1_5'Flank|PIH1D2_ENST00000521853.2_5'UTR|C11orf57_ENST00000393047.3_5'Flank	NM_138789.3	NP_620144.1	Q8WWB5	PIHD2_HUMAN	PIH1 domain containing 2	51										endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-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;3.19e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;6.18e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0508)		AGACAAAGCTGTGGTTCTGGG	0.483																																					p.Q51K		.											.	PIH1D2-69	0			c.C151A						.						87.0	79.0	82.0					11																	111943748		2201	4297	6498	SO:0001583	missense	120379	exon2			AAAGCTGTGGTTC	BC019238	CCDS8355.1, CCDS44730.1	11q23.1	2007-01-31			ENSG00000150773	ENSG00000150773			25210	protein-coding gene	gene with protein product						12477932	Standard	NM_138789		Approved		uc001pmp.4	Q8WWB5	OTTHUMG00000166925	ENST00000280350.4:c.151C>A	11.37:g.111943748G>T	ENSP00000280350:p.Gln51Lys	36	0		22	16	NM_001082619	0	0	0	0	0	B4DU48|E9PD82	Missense_Mutation	SNP	ENST00000280350.4	37	CCDS8355.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.598|3.598	-0.082161|-0.082161	0.07141|0.07141	.|.	.|.	ENSG00000150773|ENSG00000150773	ENST00000528775;ENST00000431456;ENST00000532211;ENST00000280350;ENST00000530641;ENST00000525744|ENST00000525072	T;T;T;T;T;T|.	0.16743|.	2.32;2.32;2.32;2.32;2.32;2.32|.	4.97|4.97	3.07|3.07	0.35406|0.35406	.|.	1.227860|.	0.05246|.	N|.	0.513037|.	T|T	0.46908|0.46908	0.1417|0.1417	M|M	0.68317|0.68317	2.08|2.08	0.24681|0.24681	N|N	0.99337|0.99337	B;B;B|.	0.09022|.	0.001;0.002;0.001|.	B;B;B|.	0.12156|.	0.004;0.007;0.006|.	T|T	0.35176|0.35176	-0.9799|-0.9799	10|5	0.46703|.	T|.	0.11|.	2.1755|2.1755	7.3716|7.3716	0.26804|0.26804	0.0794:0.0:0.6258:0.2948|0.0794:0.0:0.6258:0.2948	.|.	51;51;51|.	B4DU48;E9PD82;Q8WWB5|.	.;.;PIHD2_HUMAN|.	K|K	51;51;51;51;51;16|23	ENSP00000434275:Q51K;ENSP00000388209:Q51K;ENSP00000431841:Q51K;ENSP00000280350:Q51K;ENSP00000431147:Q51K;ENSP00000433297:Q16K|.	ENSP00000280350:Q51K|.	Q|T	-|-	1|2	0|0	PIH1D2|PIH1D2	111448958|111448958	1.000000|1.000000	0.71417|0.71417	0.971000|0.971000	0.41717|0.41717	0.628000|0.628000	0.37860|0.37860	1.277000|1.277000	0.33167|0.33167	0.779000|0.779000	0.33543|0.33543	0.655000|0.655000	0.94253|0.94253	CAG|ACA	.		0.483	PIH1D2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391916.1	NM_138789	
C11orf57	55216	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	11	111953575	111953578	+	Frame_Shift_Del	DEL	AGAG	AGAG	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	AGAG	AGAG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr11:111953575_111953578delAGAG	ENST00000280352.9	+	6	1394_1397	c.758_761delAGAG	c.(757-762)aagagafs	p.KR253fs	TIMM8B_ENST00000507614.1_5'Flank|C11orf57_ENST00000532163.1_Frame_Shift_Del_p.KR225fs|C11orf57_ENST00000420986.2_Frame_Shift_Del_p.KR253fs|C11orf57_ENST00000393047.3_Frame_Shift_Del_p.KR254fs	NM_001082970.1|NM_018195.3	NP_001076439.1|NP_060665.3	Q6ZUT1	CK057_HUMAN	chromosome 11 open reading frame 57	253	Lys-rich.									autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12		all_cancers(61;9.8e-15)|all_epithelial(67;6.57e-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;3.6e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;7.01e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0521)		AAAAGGAAAAAGAGAGAGAAAAAA	0.407																																					p.254_255del		.											.	C11orf57-155	0			c.761_764del						.																																			SO:0001589	frameshift_variant	55216	exon6			GGAAAAAGAGAGA	BX538107	CCDS8356.2, CCDS41715.1, CCDS73383.1	11q23.1	2006-03-09			ENSG00000150776	ENSG00000150776			25569	protein-coding gene	gene with protein product						12477932	Standard	NM_001082970		Approved	FLJ10726	uc001pmw.4	Q6ZUT1	OTTHUMG00000150213	ENST00000280352.9:c.758_761delAGAG	11.37:g.111953579_111953582delAGAG	ENSP00000339076:p.Lys253fs	41	0		31	23	NM_001082969	0	0	0	0	0	Q5RL41|Q6IN53|Q7Z357|Q8N2T3	Frame_Shift_Del	DEL	ENST00000280352.9	37	CCDS41715.1																																																																																			.		0.407	C11orf57-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000316852.1	NM_018195	
SDHD	6392	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	111957633	111957633	+	Start_Codon_SNP	SNP	T	T	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr11:111957633T>A	ENST00000375549.3	+	1	137	c.2T>A	c.(1-3)aTg>aAg	p.M1K	SDHD_ENST00000532699.1_Start_Codon_SNP_p.M1K|SDHD_ENST00000526592.1_Start_Codon_SNP_p.M1K|TIMM8B_ENST00000541231.1_5'Flank|TIMM8B_ENST00000504148.2_5'Flank|SDHD_ENST00000525291.1_Start_Codon_SNP_p.M1K|TIMM8B_ENST00000507614.1_5'Flank|SDHD_ENST00000528021.1_Start_Codon_SNP_p.M1K|SDHD_ENST00000528048.1_Start_Codon_SNP_p.M1K|SDHD_ENST00000528182.1_Start_Codon_SNP_p.M1K	NM_003002.2	NP_002993.1	O14521	DHSD_HUMAN	succinate dehydrogenase complex, subunit D, integral membrane protein	1					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|succinate dehydrogenase activity (GO:0000104)|ubiquinone binding (GO:0048039)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	9		all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-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;6.13e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;1.05e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0515)	Hexachlorophene(DB00756)|Succinic acid(DB00139)	AGGAACGAGATGGCGGTTCTC	0.597			"""Mis, N, F, S"""			"""paraganglioma, pheochromocytoma"""			Familial Paragangliomas;Cowden syndrome;Carney-Stratakis syndrome																												p.C1Y		.	yes	Rec		Familial paraganglioma	11	11q23	6392	"""succinate dehydrogenase complex, subunit D, integral membrane protein"""		O	.	SDHD-226	0			c.G2A	GRCh37	CM073335	SDHD	M		.						91.0	78.0	82.0					11																	111957633		2201	4297	6498	SO:0001582	initiator_codon_variant	6392	exon1	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;Carney-Stratakis dyad, Paraganglioma-Gastric Stromal Sarcoma dyad	ACGAGATGGCGGT	AB006202	CCDS31678.1, CCDS60958.1, CCDS60959.1, CCDS60960.1	11q23	2014-09-17				ENSG00000204370		"""Mitochondrial respiratory chain complex / Complex II"""	10683	protein-coding gene	gene with protein product		602690		PGL, PGL1		9533030, 1301144	Standard	NM_003002		Approved		uc001pmz.4	O14521		ENST00000375549.3:c.2T>A	11.37:g.111957633T>A	ENSP00000364699:p.Met1Lys	189	0		114	85	NM_003002	0	0	4	38	34	A6ND90|B3KQQ8|E9PIC0|E9PIG3|E9PQI9|Q53XW5|Q6IRW2	Missense_Mutation	SNP	ENST00000375549.3	37	CCDS31678.1	.	.	.	.	.	.	.	.	.	.	T	19.45	3.829683	0.71258	.	.	ENSG00000204370	ENST00000375549;ENST00000528182;ENST00000528048;ENST00000528021;ENST00000526592;ENST00000525291	D;D;D;D;D;D	0.97279	-3.8;-3.52;-1.95;-3.41;-3.63;-4.32	5.16	5.16	0.70880	.	0.243973	0.44483	D	0.000455	D	0.98108	0.9376	.	.	.	0.80722	D	1	D	0.71674	0.998	D	0.75484	0.986	D	0.98686	1.0694	9	0.87932	D	0	-7.6307	11.3188	0.49407	0.0:0.0:0.0:1.0	.	1	O14521	DHSD_HUMAN	K	1	ENSP00000364699:M1K;ENSP00000435475:M1K;ENSP00000436217:M1K;ENSP00000432465:M1K;ENSP00000432005:M1K;ENSP00000436669:M1K	ENSP00000436395:M1K	M	+	2	0	SDHD	111462843	1.000000	0.71417	0.989000	0.46669	0.030000	0.12068	2.169000	0.42434	2.180000	0.69256	0.533000	0.62120	ATG	.		0.597	SDHD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392351.1	NM_003002	Missense_Mutation
RNF214	257160	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	117153198	117153198	+	Missense_Mutation	SNP	C	C	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr11:117153198C>G	ENST00000531452.1	+	12	1837	c.1791C>G	c.(1789-1791)atC>atG	p.I597M	RNF214_ENST00000530849.1_Missense_Mutation_p.I442M|RNF214_ENST00000524917.1_3'UTR|RNF214_ENST00000300650.4_Missense_Mutation_p.I597M|RNF214_ENST00000531287.1_Missense_Mutation_p.I442M	NM_001077239.1|NM_001278249.1	NP_001070707.1|NP_001265178.1	Q8ND24	RN214_HUMAN	ring finger protein 214	597							zinc ion binding (GO:0008270)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		AGGAACTTATCCAGTTGGTTG	0.522																																					p.I597M		.											.	RNF214-90	0			c.C1791G						.						83.0	81.0	82.0					11																	117153198		2011	4183	6194	SO:0001583	missense	257160	exon12			ACTTATCCAGTTG	AL834448	CCDS41720.1, CCDS60976.1	11q23.3	2014-02-12	2007-02-16		ENSG00000167257	ENSG00000167257		"""RING-type (C3HC4) zinc fingers"""	25335	protein-coding gene	gene with protein product							Standard	NM_001077239		Approved	DKFZp547C195	uc001pqt.4	Q8ND24	OTTHUMG00000167069	ENST00000531452.1:c.1791C>G	11.37:g.117153198C>G	ENSP00000431643:p.Ile597Met	152	0		83	60	NM_207343	0	0	2	20	18	B2RUW0|B4DTD1	Missense_Mutation	SNP	ENST00000531452.1	37	CCDS41720.1	.	.	.	.	.	.	.	.	.	.	C	16.57	3.160716	0.57368	.	.	ENSG00000167257	ENST00000531287;ENST00000531452;ENST00000530849;ENST00000300650;ENST00000534709	T;T;T;T	0.51574	0.77;0.7;0.8;0.7	5.63	3.7	0.42460	.	0.409580	0.27275	N	0.020112	T	0.34193	0.0889	N	0.08118	0	0.28528	N	0.912701	P;D	0.54964	0.876;0.969	B;P	0.50970	0.264;0.655	T	0.13683	-1.0500	10	0.51188	T	0.08	-5.2928	8.5269	0.33311	0.0:0.6269:0.2956:0.0775	.	442;597	B4DTD1;Q8ND24	.;RN214_HUMAN	M	442;597;442;597;149	ENSP00000435361:I442M;ENSP00000431643:I597M;ENSP00000432903:I442M;ENSP00000300650:I597M	ENSP00000300650:I597M	I	+	3	3	RNF214	116658408	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	0.599000	0.24089	1.313000	0.45069	0.561000	0.74099	ATC	.		0.522	RNF214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392884.1	NM_001077239	
POU2F3	25833	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	120180235	120180235	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr11:120180235G>A	ENST00000543440.2	+	10	1158	c.1008G>A	c.(1006-1008)gaG>gaA	p.E336E	POU2F3_ENST00000260264.4_Silent_p.E338E	NM_014352.3	NP_055167.2	Q9UKI9	PO2F3_HUMAN	POU class 2 homeobox 3	336					epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)|negative regulation by host of viral transcription (GO:0043922)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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)			large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		GCCAAAAGGAGAAGCGAATCA	0.567																																					p.E338E		.											.	POU2F3-92	0			c.G1014A						.						119.0	88.0	99.0					11																	120180235		2203	4299	6502	SO:0001819	synonymous_variant	25833	exon10			AAAGGAGAAGCGA	AF133895	CCDS8431.1, CCDS58190.1	11q23.3	2011-06-20	2007-07-13		ENSG00000137709	ENSG00000137709		"""Homeoboxes / POU class"""	19864	protein-coding gene	gene with protein product		607394	"""POU domain class 2, transcription factor 3"""			10473598	Standard	NM_014352		Approved	OCT11, PLA-1, Skn-1a, Epoc-1	uc021qrk.1	Q9UKI9	OTTHUMG00000166140	ENST00000543440.2:c.1008G>A	11.37:g.120180235G>A		158	0		110	69	NM_001244682	0	0	0	0	0	A8K7H8|B4DY07|F5GWW6|Q3MIY3|Q9UKR7|Q9Y504	Silent	SNP	ENST00000543440.2	37	CCDS8431.1																																																																																			.		0.567	POU2F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388039.2		
GRIK4	2900	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	120531058	120531058	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr11:120531058C>T	ENST00000527524.2	+	3	318	c.31C>T	c.(31-33)Ctt>Ttt	p.L11F	GRIK4_ENST00000438375.2_Missense_Mutation_p.L11F	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	11					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		TTTGGTGCTGCTTCCTGCGTG	0.637											OREG0021424	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.L11F		.											.	GRIK4-92	0			c.C31T						.						68.0	60.0	63.0					11																	120531058		2203	4299	6502	SO:0001583	missense	2900	exon1			GTGCTGCTTCCTG	S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.31C>T	11.37:g.120531058C>T	ENSP00000435648:p.Leu11Phe	60	0	1504	39	30	NM_014619	0	0	1	5	4	A8K9L1	Missense_Mutation	SNP	ENST00000527524.2	37	CCDS8433.1	.	.	.	.	.	.	.	.	.	.	C	15.70	2.911324	0.52439	.	.	ENSG00000149403	ENST00000527524;ENST00000438375	T;T	0.13657	2.57;2.57	5.55	5.55	0.83447	.	0.119263	0.37483	N	0.002073	T	0.06917	0.0176	N	0.08118	0	0.36619	D	0.875673	B;B	0.33694	0.421;0.089	B;B	0.24701	0.055;0.037	T	0.43310	-0.9399	10	0.25751	T	0.34	.	14.264	0.66104	0.0:0.8506:0.1494:0.0	.	11;11	A6H8K8;Q16099	.;GRIK4_HUMAN	F	11	ENSP00000435648:L11F;ENSP00000404063:L11F	ENSP00000404063:L11F	L	+	1	0	GRIK4	120036268	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.636000	0.46545	2.764000	0.94973	0.563000	0.77884	CTT	.		0.637	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109760.4	NM_014619	
TECTA	7007	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	121016701	121016701	+	Silent	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr11:121016701C>T	ENST00000392793.1	+	12	4252	c.3981C>T	c.(3979-3981)tgC>tgT	p.C1327C	TECTA_ENST00000478058.1_3'UTR|TECTA_ENST00000264037.2_Silent_p.C1327C			O75443	TECTA_HUMAN	tectorin alpha	1327					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		ATAAGAACTGCCTGTTTGACT	0.567																																					p.C1327C		.											.	TECTA-225	0			c.C3981T						.						117.0	111.0	113.0					11																	121016701		2203	4299	6502	SO:0001819	synonymous_variant	7007	exon11			GAACTGCCTGTTT	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.3981C>T	11.37:g.121016701C>T		96	0		64	38	NM_005422	0	0	0	1	1		Silent	SNP	ENST00000392793.1	37	CCDS8434.1																																																																																			.		0.567	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422	
NFRKB	4798	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	129754659	129754659	+	Silent	SNP	G	G	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr11:129754659G>C	ENST00000446488.3	-	6	826	c.723C>G	c.(721-723)acC>acG	p.T241T	NFRKB_ENST00000524794.1_Silent_p.T266T|NFRKB_ENST00000304521.5_Silent_p.T241T|NFRKB_ENST00000524746.1_Silent_p.T241T	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	241					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protease binding (GO:0002020)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		TCATATCCGTGGTTGAAAGTG	0.542																																					p.T266T		.											.	NFRKB-93	0			c.C798G						.						69.0	77.0	74.0					11																	129754659		2201	4297	6498	SO:0001819	synonymous_variant	4798	exon5			ATCCGTGGTTGAA		CCDS8483.1, CCDS44770.1	11q24-q25	2011-07-06			ENSG00000170322	ENSG00000170322		"""INO80 complex subunits"""	7802	protein-coding gene	gene with protein product	"""nuclear factor related to kappa B binding protein"", ""DNA-binding protein R kappa B"", ""INO80 complex subunit G"""	164013				1427843	Standard	NM_006165		Approved	DKFZp547B2013, INO80G	uc001qfg.3	Q6P4R8	OTTHUMG00000165761	ENST00000446488.3:c.723C>G	11.37:g.129754659G>C		80	0		48	36	NM_006165	0	0	0	0	0	Q12869|Q15312|Q9H048	Silent	SNP	ENST00000446488.3	37	CCDS44770.1																																																																																			.		0.542	NFRKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386063.2	NM_006165	
NCAPD3	23310	broad.mit.edu;bcgsc.ca	37	11	134048719	134048719	+	Missense_Mutation	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr11:134048719T>C	ENST00000534548.2	-	21	2736	c.2672A>G	c.(2671-2673)cAc>cGc	p.H891R	RP11-700F16.3_ENST00000531710.1_RNA	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	891					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		TGCCTTACAGTGGTCAGCATC	0.502																																					p.H891R		.											.	NCAPD3-229	0			c.A2672G						.						103.0	90.0	94.0					11																	134048719		2201	4297	6498	SO:0001583	missense	23310	exon21			TTACAGTGGTCAG	AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.2672A>G	11.37:g.134048719T>C	ENSP00000433681:p.His891Arg	170	1		123	8	NM_015261	0	0	0	0	0	A6NFS2|Q4KMQ9	Missense_Mutation	SNP	ENST00000534548.2	37	CCDS31723.1	.	.	.	.	.	.	.	.	.	.	T	13.67	2.307041	0.40795	.	.	ENSG00000151503	ENST00000534548	T	0.23552	1.9	5.78	-3.38	0.04883	Armadillo-like helical (1);Armadillo-type fold (1);	0.532323	0.19774	N	0.106363	T	0.11452	0.0279	L	0.43152	1.355	0.09310	N	1	P	0.41475	0.751	B	0.31337	0.128	T	0.43845	-0.9366	10	0.11182	T	0.66	3.8882	5.8614	0.18749	0.107:0.0607:0.4437:0.3886	.	891	P42695	CNDD3_HUMAN	R	891	ENSP00000433681:H891R	ENSP00000434168:H891R	H	-	2	0	NCAPD3	133553929	0.005000	0.15991	0.000000	0.03702	0.086000	0.17979	0.645000	0.24782	-0.468000	0.06922	0.460000	0.39030	CAC	.		0.502	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261	
GLB1L3	112937	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	134147638	134147638	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr11:134147638C>T	ENST00000431683.2	+	3	194	c.194C>T	c.(193-195)tCt>tTt	p.S65F	GLB1L3_ENST00000389887.5_Missense_Mutation_p.S65F	NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	65					carbohydrate metabolic process (GO:0005975)		beta-galactosidase activity (GO:0004565)			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		AAGAATCGATCTGTGGGACTT	0.562																																					p.S65F		.											.	GLB1L3-69	0			c.C194T						.						37.0	40.0	39.0					11																	134147638		2182	4288	6470	SO:0001583	missense	112937	exon3			ATCGATCTGTGGG		CCDS44780.1	11q25	2008-11-06	2008-01-29		ENSG00000166105	ENSG00000166105			25147	protein-coding gene	gene with protein product						12477932	Standard	NM_001080407		Approved	FLJ90231	uc009zdf.3	Q8NCI6	OTTHUMG00000133524	ENST00000431683.2:c.194C>T	11.37:g.134147638C>T	ENSP00000396615:p.Ser65Phe	107	0		59	47	NM_001080407	0	0	0	0	0	A6NEM0|A6NN15|Q6P3S3|Q96FF8	Missense_Mutation	SNP	ENST00000431683.2	37	CCDS44780.1	.	.	.	.	.	.	.	.	.	.	C	11.31	1.601561	0.28534	.	.	ENSG00000166105	ENST00000389887;ENST00000431683	D;D	0.97186	-4.15;-4.28	5.06	0.685	0.18009	.	.	.	.	.	D	0.89736	0.6801	N	0.08118	0	0.09310	N	1	B;B	0.12630	0.004;0.006	B;B	0.12837	0.007;0.008	T	0.81640	-0.0841	9	0.41790	T	0.15	.	3.7742	0.08653	0.388:0.3398:0.0:0.2721	.	65;65	Q8NCI6-4;Q8NCI6	.;GLBL3_HUMAN	F	65	ENSP00000374537:S65F;ENSP00000396615:S65F	ENSP00000374537:S65F	S	+	2	0	GLB1L3	133652848	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.631000	0.05496	0.059000	0.16252	0.585000	0.79938	TCT	.		0.562	GLB1L3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393625.1	NM_138416	
GLB1L2	89944	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	134240273	134240273	+	Missense_Mutation	SNP	G	G	A	rs202239114		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr11:134240273G>A	ENST00000535456.2	+	12	1383	c.1195G>A	c.(1195-1197)Gcc>Acc	p.A399T	GLB1L2_ENST00000339772.7_Missense_Mutation_p.A399T|GLB1L2_ENST00000529077.1_3'UTR|GLB1L2_ENST00000389881.3_Missense_Mutation_p.A399T	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	399					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		TCTGTGGGACGCCCTCAAGTA	0.612																																					p.A399T		.											.	GLB1L2-25	0			c.G1195A						.						175.0	144.0	155.0					11																	134240273		2201	4297	6498	SO:0001583	missense	89944	exon12			TGGGACGCCCTCA		CCDS31724.1	11q25	2008-01-29			ENSG00000149328	ENSG00000149328			25129	protein-coding gene	gene with protein product						12975309	Standard	NM_138342		Approved		uc001qhp.3	Q8IW92	OTTHUMG00000167179	ENST00000535456.2:c.1195G>A	11.37:g.134240273G>A	ENSP00000444628:p.Ala399Thr	130	0		102	81	NM_138342	0	0	0	0	0	A6NCE6|Q6UX60|Q8NC62|Q8NCB3|Q8NCJ1|Q96HP3	Missense_Mutation	SNP	ENST00000535456.2	37	CCDS31724.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.55|11.55	1.672865|1.672865	0.29693|0.29693	.|.	.|.	ENSG00000149328|ENSG00000149328	ENST00000339772;ENST00000535456;ENST00000389881|ENST00000525089	D;D;D|.	0.97114|.	-4.25;-4.25;-4.25|.	5.06|5.06	5.06|5.06	0.68205|0.68205	.|.	0.584382|.	0.18637|.	N|.	0.135408|.	T|T	0.53286|0.53286	0.1787|0.1787	N|N	0.25060|0.25060	0.705|0.705	0.37542|0.37542	D|D	0.918356|0.918356	P|.	0.34462|.	0.454|.	B|.	0.20384|.	0.029|.	T|T	0.53358|0.53358	-0.8450|-0.8450	10|5	0.20519|.	T|.	0.43|.	-22.7888|-22.7888	16.7317|16.7317	0.85436|0.85436	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	399|.	Q8IW92|.	GLBL2_HUMAN|.	T|H	399|337	ENSP00000344659:A399T;ENSP00000444628:A399T;ENSP00000374531:A399T|.	ENSP00000344659:A399T|.	A|R	+|+	1|2	0|0	GLB1L2|GLB1L2	133745483|133745483	0.432000|0.432000	0.25554|0.25554	0.923000|0.923000	0.36655|0.36655	0.299000|0.299000	0.27559|0.27559	3.895000|3.895000	0.56258|0.56258	2.746000|2.746000	0.94184|0.94184	0.643000|0.643000	0.83706|0.83706	GCC|CGC	G|0.999;A|0.001		0.612	GLB1L2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393629.2	NM_138342	
KDM5A	5927	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	431710	431710	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:431710G>A	ENST00000399788.2	-	17	2661	c.2299C>T	c.(2299-2301)Ctg>Ttg	p.L767L	KDM5A_ENST00000382815.4_Silent_p.L767L	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	767					chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						GCATCTTCCAGCATTACTCGC	0.383			T	NUP98	AML																																p.L767L		.		Dom	yes		12	12p11	5927	"""lysine (K)-specific demethylase 5A, JARID1A"""		L	.	KDM5A-227	0			c.C2299T						.						120.0	117.0	118.0					12																	431710		1826	4084	5910	SO:0001819	synonymous_variant	5927	exon17			CTTCCAGCATTAC		CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	9886	protein-coding gene	gene with protein product		180202	"""retinoblastoma-binding protein 2"", ""Jumonji, AT rich interactive domain 1A (RBBP2-like)"", ""jumonji, AT rich interactive domain 1A"""	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.2299C>T	12.37:g.431710G>A		22	0		11	11	NM_001042603	0	0	0	5	5	A8MV76|Q4LE72|Q86XZ1	Silent	SNP	ENST00000399788.2	37	CCDS41736.1																																																																																			.		0.383	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1	NM_005056	
FGF23	8074	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	4479600	4479600	+	Missense_Mutation	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:4479600T>C	ENST00000237837.1	-	3	810	c.665A>G	c.(664-666)gAc>gGc	p.D222G		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	222					cell differentiation (GO:0030154)|cellular phosphate ion homeostasis (GO:0030643)|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)|negative regulation of bone mineralization (GO:0030502)|negative regulation of hormone secretion (GO:0046888)|negative regulation of osteoblast differentiation (GO:0045668)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphate ion homeostasis (GO:0055062)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|regulation of phosphate transport (GO:0010966)|vitamin D catabolic process (GO:0042369)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			CCCTAATGGGTCACTGGCCAT	0.697																																					p.D222G		.											.	FGF23-660	0			c.A665G						.						31.0	35.0	34.0					12																	4479600		2203	4300	6503	SO:0001583	missense	8074	exon3			AATGGGTCACTGG	AF263537	CCDS8526.1	12p13	2008-07-04			ENSG00000118972	ENSG00000118972			3680	protein-coding gene	gene with protein product		605380				11032749, 18310961	Standard	NM_020638		Approved		uc001qmq.1	Q9GZV9	OTTHUMG00000168241	ENST00000237837.1:c.665A>G	12.37:g.4479600T>C	ENSP00000237837:p.Asp222Gly	79	0		85	69	NM_020638	0	0	0	0	0	Q4V758	Missense_Mutation	SNP	ENST00000237837.1	37	CCDS8526.1	.	.	.	.	.	.	.	.	.	.	T	16.27	3.075074	0.55646	.	.	ENSG00000118972	ENST00000237837	D	0.83591	-1.74	4.84	4.84	0.62591	.	0.098369	0.64402	D	0.000002	D	0.83358	0.5237	L	0.32530	0.975	0.36585	D	0.873795	D	0.61080	0.989	P	0.57846	0.828	D	0.87578	0.2482	10	0.72032	D	0.01	-28.0538	12.2854	0.54789	0.0:0.0:0.0:1.0	.	222	Q9GZV9	FGF23_HUMAN	G	222	ENSP00000237837:D222G	ENSP00000237837:D222G	D	-	2	0	FGF23	4349861	1.000000	0.71417	1.000000	0.80357	0.028000	0.11728	3.959000	0.56744	2.026000	0.59711	0.448000	0.29417	GAC	.		0.697	FGF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398936.1		
VAMP1	6843	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	6575152	6575152	+	Missense_Mutation	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:6575152T>C	ENST00000396308.3	-	3	289	c.144A>G	c.(142-144)atA>atG	p.I48M	VAMP1_ENST00000361716.3_Missense_Mutation_p.I48M|VAMP1_ENST00000400911.3_Missense_Mutation_p.I48M|VAMP1_ENST00000544432.1_5'UTR|VAMP1_ENST00000535180.1_Missense_Mutation_p.I48M|TAPBPL_ENST00000545700.1_3'UTR	NM_014231.3|NM_199245.1	NP_055046.1|NP_954740.1	P23763	VAMP1_HUMAN	vesicle-associated membrane protein 1 (synaptobrevin 1)	48	v-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00290}.				neurotransmitter secretion (GO:0007269)|SNARE complex assembly (GO:0035493)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuron projection (GO:0043005)|synapse (GO:0045202)				endometrium(1)|large_intestine(1)|prostate(1)	3					Botulinum Toxin Type B(DB00042)	CGTTCACACGTATGATGTCCA	0.537											OREG0021627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.I48M		.											.	VAMP1-90	0			c.A144G						.						100.0	83.0	88.0					12																	6575152		2203	4300	6503	SO:0001583	missense	6843	exon3			CACACGTATGATG		CCDS31731.1, CCDS41740.1, CCDS44809.1, CCDS73422.1	12p	2013-02-13			ENSG00000139190	ENSG00000139190		"""Vesicle-associated membrane proteins"""	12642	protein-coding gene	gene with protein product		185880		SYB1		1976629	Standard	XM_006719011		Approved	VAMP-1	uc001qok.3	P23763	OTTHUMG00000168269	ENST00000396308.3:c.144A>G	12.37:g.6575152T>C	ENSP00000379602:p.Ile48Met	86	1	635	61	51	NM_014231	0	0	0	5	5	A8MVP3|D3DUR3|O75468|Q15857|Q6FG94|Q8IVC9	Missense_Mutation	SNP	ENST00000396308.3	37	CCDS41740.1	.	.	.	.	.	.	.	.	.	.	t	1.795	-0.478527	0.04414	.	.	ENSG00000139190	ENST00000400911;ENST00000361716;ENST00000535180;ENST00000355479;ENST00000396308;ENST00000396943;ENST00000539047	T;T;T;T	0.25912	1.77;1.77;1.77;1.77	5.77	-0.736	0.11133	Synaptobrevin (3);	0.201464	0.64402	N	0.000010	T	0.01870	0.0059	N	0.00001	-3.655	0.31783	N	0.630672	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.08055	0.001;0.0;0.003	T	0.46884	-0.9159	10	0.02654	T	1	.	9.7017	0.40192	0.179:0.652:0.0:0.169	.	48;48;48	P23763-3;P23763;P23763-2	.;VAMP1_HUMAN;.	M	48	ENSP00000383702:I48M;ENSP00000355122:I48M;ENSP00000444181:I48M;ENSP00000379602:I48M	ENSP00000347664:I48M	I	-	3	3	VAMP1	6445413	0.993000	0.37304	0.985000	0.45067	0.152000	0.21847	0.462000	0.21956	-0.364000	0.08088	-3.410000	0.00038	ATA	.		0.537	VAMP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399078.1		
NCAPD2	9918	broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	6626132	6626132	+	Missense_Mutation	SNP	G	G	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:6626132G>C	ENST00000315579.5	+	10	1925	c.1126G>C	c.(1126-1128)Gtc>Ctc	p.V376L	NCAPD2_ENST00000545962.1_Missense_Mutation_p.V331L	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	376	Interactions with SMC2 and SMC4.				mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|condensin core heterodimer (GO:0000797)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|pronucleus (GO:0045120)	histone binding (GO:0042393)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						TGGCCATGATGTCAACTCCTT	0.512																																					p.V376L		.											.	NCAPD2-660	0			c.G1126C						.						181.0	164.0	170.0					12																	6626132		2203	4300	6503	SO:0001583	missense	9918	exon10			CATGATGTCAACT	D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292			24305	protein-coding gene	gene with protein product	"""chromosome condensation related SMC associated protein 1"""	615638				8590280, 10958694	Standard	NM_014865		Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.1126G>C	12.37:g.6626132G>C	ENSP00000325017:p.Val376Leu	203	2		151	116	NM_014865	0	0	3	21	18	D3DUR4|Q8N6U3	Missense_Mutation	SNP	ENST00000315579.5	37	CCDS8548.1	.	.	.	.	.	.	.	.	.	.	G	17.53	3.413403	0.62511	.	.	ENSG00000010292	ENST00000315579;ENST00000382457;ENST00000545962;ENST00000535602	T;T;T	0.13538	2.58;2.58;2.58	5.44	3.54	0.40534	Armadillo-like helical (1);Armadillo-type fold (1);	0.282057	0.40222	N	0.001142	T	0.18002	0.0432	M	0.80616	2.505	0.35815	D	0.824127	B;B;B	0.29716	0.255;0.033;0.059	B;B;B	0.29716	0.106;0.064;0.049	T	0.10870	-1.0611	10	0.27785	T	0.31	-21.3534	10.0809	0.42388	0.2245:0.0:0.7755:0.0	.	331;337;376	F5GZJ1;B3KY03;Q15021	.;.;CND1_HUMAN	L	376;248;331;248	ENSP00000325017:V376L;ENSP00000371895:V248L;ENSP00000444417:V331L	ENSP00000325017:V376L	V	+	1	0	NCAPD2	6496393	0.910000	0.30920	0.920000	0.36463	0.991000	0.79684	1.443000	0.35057	1.221000	0.43506	0.462000	0.41574	GTC	.		0.512	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399964.1	NM_014865	
GNB3	2784	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	6954905	6954905	+	Silent	SNP	A	A	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:6954905A>T	ENST00000229264.3	+	10	1260	c.855A>T	c.(853-855)ctA>ctT	p.L285L	GNB3_ENST00000435982.2_Silent_p.L284L|CDCA3_ENST00000422785.3_3'UTR|CDCA3_ENST00000604599.1_5'UTR	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3	285					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell body (GO:0044297)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						GCCGCCTACTATTCGCTGGCT	0.592																																					p.L285L		.											.	GNB3-227	0			c.A855T						.						174.0	166.0	168.0					12																	6954905		2203	4300	6503	SO:0001819	synonymous_variant	2784	exon10			CCTACTATTCGCT		CCDS8564.1, CCDS73427.1	12p13	2013-01-10			ENSG00000111664	ENSG00000111664		"""WD repeat domain containing"""	4400	protein-coding gene	gene with protein product		139130				11770079, 16600389	Standard	XM_005253680		Approved		uc001qrd.3	P16520	OTTHUMG00000168517	ENST00000229264.3:c.855A>T	12.37:g.6954905A>T		134	0		125	95	NM_002075	0	0	0	2	2	Q96B71|Q9BQC0	Silent	SNP	ENST00000229264.3	37	CCDS8564.1																																																																																			.		0.592	GNB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400006.1	NM_002075	
CLEC4C	170482	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	7898983	7898983	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:7898983G>A	ENST00000542353.1	-	3	558	c.68C>T	c.(67-69)tCc>tTc	p.S23F	CLEC4C_ENST00000540085.1_Intron|CLEC4C_ENST00000354629.5_Intron|CLEC4C_ENST00000360345.3_Missense_Mutation_p.S23F	NM_130441.2	NP_569708.1	Q8WTT0	CLC4C_HUMAN	C-type lectin domain family 4, member C	23					innate immune response (GO:0045087)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				Kidney(36;0.0915)		GACTGCCATGGACCAGACCTT	0.498																																					p.S23F		.											.	CLEC4C-93	0			c.C68T						.						162.0	124.0	137.0					12																	7898983		2203	4300	6503	SO:0001583	missense	170482	exon3			GCCATGGACCAGA	AF325460	CCDS8583.1, CCDS8584.1	12p13.2-p12.3	2008-02-05	2004-02-13	2005-02-11	ENSG00000198178	ENSG00000198178		"""C-type lectin domain containing"", ""CD molecules"""	13258	protein-coding gene	gene with protein product		606677	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 7"""	CLECSF11, CLECSF7		11031109, 11536172	Standard	NM_130441		Approved	HECL, DLEC, BDCA2, CD303	uc001qth.1	Q8WTT0	OTTHUMG00000168441	ENST00000542353.1:c.68C>T	12.37:g.7898983G>A	ENSP00000440428:p.Ser23Phe	88	1		33	26	NM_130441	0	0	0	0	0	D3DUU3|Q3T1C3|Q6UXS8|Q8WXX8	Missense_Mutation	SNP	ENST00000542353.1	37	CCDS8583.1	.	.	.	.	.	.	.	.	.	.	G	8.514	0.867276	0.17250	.	.	ENSG00000198178	ENST00000542353;ENST00000360345;ENST00000543765	T;T;T	0.17370	4.39;4.39;2.28	2.06	2.06	0.26882	.	.	.	.	.	T	0.14743	0.0356	L	0.48642	1.525	0.21184	N	0.999767	D	0.54964	0.969	B	0.41332	0.354	T	0.15150	-1.0447	9	0.56958	D	0.05	.	7.6579	0.28386	0.0:0.0:1.0:0.0	.	23	Q8WTT0	CLC4C_HUMAN	F	23;23;20	ENSP00000440428:S23F;ENSP00000353500:S23F;ENSP00000442457:S20F	ENSP00000353500:S23F	S	-	2	0	CLEC4C	7790250	0.000000	0.05858	0.045000	0.18777	0.067000	0.16453	-0.218000	0.09240	1.449000	0.47699	0.508000	0.49915	TCC	.		0.498	CLEC4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399750.1	NM_203503	
RIMKLB	57494	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	8926136	8926136	+	Missense_Mutation	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:8926136T>C	ENST00000538135.1	+	6	1742	c.917T>C	c.(916-918)cTt>cCt	p.L306P	RIMKLB_ENST00000357529.3_Missense_Mutation_p.L306P|RIMKLB_ENST00000299673.5_Intron|RIMKLB_ENST00000535829.1_Missense_Mutation_p.L306P|A2ML1-AS1_ENST00000537288.1_RNA			Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family member B	306					cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|citrate-L-glutamate ligase activity (GO:0072591)|metal ion binding (GO:0046872)|N-acetyl-L-aspartate-L-glutamate ligase activity (GO:0072590)			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						GCCGCCTCCCTTCTACCCTCT	0.562																																					p.L306P		.											.	.	0			c.T917C						.						80.0	82.0	82.0					12																	8926136		1958	4152	6110	SO:0001583	missense	57494	exon7			CCTCCCTTCTACC	AB033064	CCDS41748.1	12p13.31	2011-09-21	2008-10-13	2008-10-13	ENSG00000166532	ENSG00000166532	6.3.2.N6		29228	protein-coding gene	gene with protein product	"""N-acetylaspartyl-glutamate synthetase"""	614054	"""family with sequence similarity 80, member B"""	FAM80B		10574462, 20643647	Standard	XM_006719116		Approved	KIAA1238, NAAGS, NAAGS-I	uc001qux.2	Q9ULI2		ENST00000538135.1:c.917T>C	12.37:g.8926136T>C	ENSP00000440943:p.Leu306Pro	118	0		96	75	NM_020734	0	0	1	2	1	B7Z834|D3DUV2|Q8N4P4|Q8WTW6	Missense_Mutation	SNP	ENST00000538135.1	37	CCDS41748.1	.	.	.	.	.	.	.	.	.	.	T	16.72	3.200688	0.58126	.	.	ENSG00000166532	ENST00000535829;ENST00000357529;ENST00000538135	.	.	.	5.72	5.72	0.89469	.	0.327983	0.28572	U	0.014870	T	0.50803	0.1637	L	0.32530	0.975	0.80722	D	1	D	0.56035	0.974	P	0.50617	0.646	T	0.46484	-0.9188	8	.	.	.	.	13.3689	0.60701	0.0:0.0:0.0:1.0	.	306	Q9ULI2	RIMKB_HUMAN	P	306	.	.	L	+	2	0	RIMKLB	8817403	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.497000	0.53295	2.172000	0.68678	0.482000	0.46254	CTT	.		0.562	RIMKLB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398874.1	NM_020734	
KLRK1	22914	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	12	10532370	10532370	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:10532370C>T	ENST00000240618.6	-	4	310	c.170G>A	c.(169-171)tGc>tAc	p.C57Y	RP11-277P12.20_ENST00000500682.1_RNA|KLRC4-KLRK1_ENST00000539300.1_3'UTR|KLRK1_ENST00000540818.1_Missense_Mutation_p.C57Y	NM_001199805.1|NM_007360.3	NP_001186734.1|NP_031386.2	P26718	NKG2D_HUMAN	killer cell lectin-like receptor subfamily K, member 1	57					cell differentiation (GO:0030154)|innate immune response (GO:0045087)|natural killer cell activation (GO:0030101)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)	9						AGCGATGAAGCAGCAGAAAAA	0.343																																					p.C57Y		.											.	.	0			c.G170A						.						58.0	53.0	55.0					12																	10532370		2203	4300	6503	SO:0001583	missense	0	exon9			ATGAAGCAGCAGA	AJ001687	CCDS8623.1	12p13.2-p12.3	2010-02-17	2003-02-19		ENSG00000213809	ENSG00000213809		"""Killer cell lectin-like receptors"", ""CD molecules"""	18788	protein-coding gene	gene with protein product		611817	"""DNA segment on chromosome 12 (unique) 2489 expressed sequence"""	D12S2489E		9683661, 2007850	Standard	NM_007360		Approved	NKG2D, KLR, NKG2-D, CD314	uc009zhj.3	P26718	OTTHUMG00000168574	ENST00000240618.6:c.170G>A	12.37:g.10532370C>T	ENSP00000240618:p.Cys57Tyr	90	0		48	40	NM_001199805	0	0	0	0	0	A8K7K5|A8K7P4|Q9NR41	Missense_Mutation	SNP	ENST00000240618.6	37	CCDS8623.1	.	.	.	.	.	.	.	.	.	.	C	8.832	0.940030	0.18281	.	.	ENSG00000213809	ENST00000240618;ENST00000540818	T;T	0.01484	4.84;4.84	5.64	0.621	0.17643	.	1.231560	0.06025	N	0.651950	T	0.02380	0.0073	L	0.46157	1.445	0.09310	N	1	B;P;B	0.35612	0.119;0.512;0.327	B;B;B	0.33960	0.037;0.173;0.05	T	0.48387	-0.9040	10	0.41790	T	0.15	.	7.9658	0.30098	0.0:0.5834:0.0:0.4166	.	57;38;57	Q8WZ67;Q1HEA1;P26718	.;.;NKG2D_HUMAN	Y	57	ENSP00000240618:C57Y;ENSP00000446003:C57Y	ENSP00000240618:C57Y	C	-	2	0	KLRK1	10423637	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.847000	0.04331	0.322000	0.23283	0.650000	0.86243	TGC	.		0.343	KLRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400269.1	NM_007360	
YBX3	8531	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	10856704	10856704	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:10856704G>A	ENST00000228251.4	-	7	1024	c.824C>T	c.(823-825)gCa>gTa	p.A275V	YBX3_ENST00000546164.1_5'UTR|YBX3_ENST00000279550.7_Missense_Mutation_p.A206V	NM_003651.4	NP_003642.3	P16989	YBOX3_HUMAN	Y box binding protein 3	275					3'-UTR-mediated mRNA stabilization (GO:0070935)|cellular hyperosmotic response (GO:0071474)|cellular response to tumor necrosis factor (GO:0071356)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of necroptotic process (GO:0060546)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cytoplasmic translation (GO:2000767)|positive regulation of organ growth (GO:0046622)|response to cold (GO:0009409)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|tight junction (GO:0005923)	double-stranded DNA binding (GO:0003690)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|Rho GTPase binding (GO:0017048)|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)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.A275V(1)									CTGAAGTTGTGCTCCCTCTGG	0.507																																					p.A275V		.											.	CSDA-586	1	Substitution - Missense(1)	lung(1)	c.C824T						.						182.0	148.0	159.0					12																	10856704		2203	4300	6503	SO:0001583	missense	8531	exon7			AGTTGTGCTCCCT	L29064	CCDS8630.1, CCDS44831.1	12p13.1	2013-03-13	2013-03-13	2013-03-13	ENSG00000060138	ENSG00000060138			2428	protein-coding gene	gene with protein product	"""cold-shock domain containing A1"""	603437	"""cold shock domain protein A"""	CSDA		2977358, 8710501	Standard	NM_003651		Approved	dbpA, ZONAB, CSDA1	uc001qyt.3	P16989	OTTHUMG00000168409	ENST00000228251.4:c.824C>T	12.37:g.10856704G>A	ENSP00000228251:p.Ala275Val	123	0		96	65	NM_003651	1	1	13	93	78	B2RBW6|Q14121|Q969N6|Q96B76	Missense_Mutation	SNP	ENST00000228251.4	37	CCDS8630.1	.	.	.	.	.	.	.	.	.	.	G	17.06	3.292036	0.59976	.	.	ENSG00000060138	ENST00000279550;ENST00000228251	T;T	0.25414	1.85;1.8	5.52	5.52	0.82312	.	0.429875	0.23620	N	0.046255	T	0.22044	0.0531	L	0.45228	1.405	0.24646	N	0.993549	B;P	0.43857	0.035;0.819	B;B	0.40602	0.034;0.334	T	0.17961	-1.0352	10	0.30854	T	0.27	.	10.3707	0.44053	0.0891:0.0:0.9109:0.0	.	206;275	P16989-2;P16989	.;DBPA_HUMAN	V	206;275	ENSP00000279550:A206V;ENSP00000228251:A275V	ENSP00000228251:A275V	A	-	2	0	CSDA	10747971	0.777000	0.28628	0.995000	0.50966	0.221000	0.24807	3.264000	0.51553	2.576000	0.86940	0.650000	0.86243	GCA	.		0.507	YBX3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399628.1	NM_003651	
TAS2R19	259294	bcgsc.ca	37	12	11174416	11174416	+	Missense_Mutation	SNP	A	A	G	rs112900131		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:11174416A>G	ENST00000390673.2	-	1	803	c.755T>C	c.(754-756)cTt>cCt	p.L252P	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176888.1	NP_795369.1	P59542	T2R19_HUMAN	taste receptor, type 2, member 19	252					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						CTGTGTCCTAAGATTCCAAGT	0.413																																					p.L252P		.											.	TAS2R19-91	0			c.T755C						.						157.0	140.0	145.0					12																	11174416		2203	4300	6503	SO:0001583	missense	259294	exon1			GTCCTAAGATTCC	AX097730, AF494234	CCDS8640.1	12p13.2	2012-08-22			ENSG00000212124	ENSG00000212124		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	19108	protein-coding gene	gene with protein product		613961	"""taste receptor, type 2, member 48"", ""taste receptor, type 2, member 23"""	TAS2R48, TAS2R23			Standard	NM_176888		Approved	T2R19, T2R23	uc010shj.2	P59542	OTTHUMG00000162687	ENST00000390673.2:c.755T>C	12.37:g.11174416A>G	ENSP00000375091:p.Leu252Pro	223	7		151	21	NM_176888	0	0	0	0	0	Q3MIJ4|Q645X8	Missense_Mutation	SNP	ENST00000390673.2	37	CCDS8640.1	.	.	.	.	.	.	.	.	.	.	A	1.787	-0.480577	0.04383	.	.	ENSG00000212124	ENST00000390673	T	0.31247	1.5	2.68	-5.36	0.02689	.	4.481500	0.02353	N	0.076104	T	0.13798	0.0334	N	0.11870	0.19	0.09310	N	0.999991	B	0.02656	0.0	B	0.08055	0.003	T	0.07927	-1.0747	10	0.35671	T	0.21	.	0.5094	0.00592	0.3143:0.1228:0.2877:0.2751	.	252	P59542	T2R19_HUMAN	P	252	ENSP00000375091:L252P	ENSP00000375091:L252P	L	-	2	0	TAS2R19	11065683	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.993000	0.01475	-1.493000	0.01835	-0.633000	0.03987	CTT	A|0.997;G|0.003		0.413	TAS2R19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370080.1	NM_176888	
MANSC1	54682	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	12483292	12483292	+	Missense_Mutation	SNP	A	A	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:12483292A>C	ENST00000535902.1	-	4	1528	c.965T>G	c.(964-966)tTt>tGt	p.F322C	MANSC1_ENST00000396349.3_Missense_Mutation_p.F288C|MANSC1_ENST00000545735.1_Missense_Mutation_p.F241C			Q9H8J5	MANS1_HUMAN	MANSC domain containing 1	322	Thr-rich.					integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		GATTTCTGTAAACGGTATGGT	0.458																																					p.F322C		.											.	MANSC1-90	0			c.T965G						.						131.0	123.0	126.0					12																	12483292		2203	4300	6503	SO:0001583	missense	54682	exon4			TCTGTAAACGGTA	AK001160	CCDS8648.1	12p13.2	2006-04-12				ENSG00000111261			25505	protein-coding gene	gene with protein product						12975309	Standard	NM_018050		Approved	FLJ10298, LOH12CR3	uc001rai.1	Q9H8J5		ENST00000535902.1:c.965T>G	12.37:g.12483292A>C	ENSP00000438205:p.Phe322Cys	144	0		79	63	NM_018050	0	0	6	6	0	Q8NEC1|Q9NW60	Missense_Mutation	SNP	ENST00000535902.1	37	CCDS8648.1	.	.	.	.	.	.	.	.	.	.	A	15.15	2.747909	0.49257	.	.	ENSG00000111261	ENST00000535902;ENST00000396349;ENST00000355566;ENST00000545735	T;T;T	0.26810	2.08;2.1;1.71	4.83	-2.35	0.06684	.	1.097680	0.07126	N	0.844736	T	0.32224	0.0822	L	0.57536	1.79	0.09310	N	1	D;D;D	0.67145	0.996;0.996;0.996	P;P;P	0.57371	0.819;0.819;0.819	T	0.28776	-1.0033	10	0.42905	T	0.14	-29.1048	1.1919	0.01867	0.3839:0.3266:0.1294:0.16	.	256;288;322	B4DQ82;Q9NW60;Q9H8J5	.;.;MANS1_HUMAN	C	322;288;241;241	ENSP00000438205:F322C;ENSP00000379638:F288C;ENSP00000445303:F241C	ENSP00000347765:F241C	F	-	2	0	MANSC1	12374559	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.012000	0.12699	-0.131000	0.11578	0.402000	0.26972	TTT	.		0.458	MANSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400144.1	NM_018050	
LOH12CR1	118426	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	12510415	12510415	+	Missense_Mutation	SNP	G	G	C	rs151180790		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:12510415G>C	ENST00000314565.4	+	1	361	c.30G>C	c.(28-30)gaG>gaC	p.E10D	LOH12CR1_ENST00000542728.1_Intron|LOH12CR2_ENST00000381800.2_5'Flank|LOH12CR1_ENST00000298571.6_Missense_Mutation_p.E10D	NM_058169.3	NP_477517.1	Q969J3	L12R1_HUMAN	loss of heterozygosity, 12, chromosomal region 1	10										kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.0205)		CCGAGGCCGAGAGCCGACCCA	0.701																																					p.E10D		.											.	LOH12CR1-91	0			c.G30C						.						56.0	50.0	52.0					12																	12510415		2203	4300	6503	SO:0001583	missense	118426	exon1			GGCCGAGAGCCGA	AY037865	CCDS8649.1, CCDS73448.1	12p12	2008-07-03			ENSG00000165714	ENSG00000165714			17950	protein-coding gene	gene with protein product						11896457, 15284860	Standard	XR_242885		Approved	LOH1CR12	uc001ral.2	Q969J3	OTTHUMG00000168542	ENST00000314565.4:c.30G>C	12.37:g.12510415G>C	ENSP00000321546:p.Glu10Asp	215	1		161	107	NM_058169	0	0	0	6	6	Q96QS5	Missense_Mutation	SNP	ENST00000314565.4	37	CCDS8649.1	.	.	.	.	.	.	.	.	.	.	G	15.06	2.722068	0.48728	.	.	ENSG00000165714	ENST00000314565;ENST00000298571	T;T	0.56941	1.47;0.43	5.41	4.52	0.55395	.	0.096231	0.64402	D	0.000001	T	0.31231	0.0790	N	0.11560	0.145	0.27143	N	0.961604	B;B	0.20052	0.041;0.006	B;B	0.17722	0.019;0.004	T	0.16482	-1.0401	10	0.40728	T	0.16	-4.5255	8.8406	0.35140	0.0757:0.0:0.7754:0.1489	.	10;10	Q969J3-2;Q969J3	.;L12R1_HUMAN	D	10	ENSP00000321546:E10D;ENSP00000298571:E10D	ENSP00000298571:E10D	E	+	3	2	LOH12CR1	12401682	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.070000	0.41491	1.509000	0.48786	0.561000	0.74099	GAG	G|1.000;A|0.000		0.701	LOH12CR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400150.1		
EMP1	2012	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	13367530	13367530	+	Nonsense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:13367530C>T	ENST00000256951.5	+	5	578	c.379C>T	c.(379-381)Cag>Tag	p.Q127*	EMP1_ENST00000544053.1_3'UTR|EMP1_ENST00000431267.2_Nonsense_Mutation_p.Q60*|EMP1_ENST00000537612.1_Intron|EMP1_ENST00000396301.3_Silent_p.R114R|EMP1_ENST00000542289.1_Intron	NM_001423.2	NP_001414.1	P54849	EMP1_HUMAN	epithelial membrane protein 1	127					cell growth (GO:0016049)|cell proliferation (GO:0008283)|epidermis development (GO:0008544)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)							Prostate(47;0.194)		BRCA - Breast invasive adenocarcinoma(232;0.153)		TGATGGAACGCAGTATCACCA	0.493																																					p.Q127X		.											.	EMP1-90	0			c.C379T						.						195.0	162.0	173.0					12																	13367530		2203	4300	6503	SO:0001587	stop_gained	2012	exon5			GGAACGCAGTATC	U43916	CCDS8660.1	12p12.3	2008-08-04				ENSG00000134531			3333	protein-coding gene	gene with protein product		602333				8996089, 9126480	Standard	NM_001423		Approved	TMP, CL-20	uc001rbr.3	P54849		ENST00000256951.5:c.379C>T	12.37:g.13367530C>T	ENSP00000256951:p.Gln127*	138	0		108	85	NM_001423	0	0	11	11	0	B2R5N1|B4DRR1|O00681|Q13481|Q13834	Nonsense_Mutation	SNP	ENST00000256951.5	37	CCDS8660.1	.	.	.	.	.	.	.	.	.	.	C	11.37	1.619685	0.28801	.	.	ENSG00000134531	ENST00000256951;ENST00000431267	.	.	.	5.56	-11.1	0.00147	.	163.184000	0.00166	N	0.000000	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	-15.7735	5.4929	0.16787	0.4499:0.3411:0.1004:0.1087	.	.	.	.	X	127;60	.	ENSP00000256951:Q127X	Q	+	1	0	EMP1	13258797	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-5.681000	0.00105	-5.575000	0.00012	-2.203000	0.00303	CAG	.		0.493	EMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401019.1	NM_001423	
ABCC9	10060	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	22069967	22069967	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:22069967G>A	ENST00000261201.4	-	4	476	c.477C>T	c.(475-477)ggC>ggT	p.G159G	ABCC9_ENST00000345162.2_Silent_p.G159G|ABCC9_ENST00000261200.4_Silent_p.G159G	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	159					defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|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 channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	ATATGTCCAAGCCAGACTGAC	0.408																																					p.G159G		.											.	ABCC9-96	0			c.C477T						.						193.0	186.0	188.0					12																	22069967		2203	4300	6503	SO:0001819	synonymous_variant	10060	exon4			GTCCAAGCCAGAC	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.477C>T	12.37:g.22069967G>A		92	1		63	45	NM_005691	0	0	5	5	0	O60707	Silent	SNP	ENST00000261201.4	37	CCDS8694.1																																																																																			.		0.408	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691	
SOX5	6660	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	23818387	23818387	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:23818387C>T	ENST00000451604.2	-	7	1023	c.922G>A	c.(922-924)Gct>Act	p.A308T	SOX5_ENST00000537393.1_Missense_Mutation_p.A273T|SOX5_ENST00000546136.1_Missense_Mutation_p.A295T|SOX5_ENST00000545921.1_Missense_Mutation_p.A298T|SOX5_ENST00000541536.1_Missense_Mutation_p.A295T|SOX5_ENST00000309359.1_Missense_Mutation_p.A295T|SOX5_ENST00000381381.2_Missense_Mutation_p.A295T			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	308					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						CTACATCCAGCCTTATAGCTG	0.483																																					p.A308T		.											.	SOX5-655	0			c.G922A						.						122.0	127.0	125.0					12																	23818387		2203	4300	6503	SO:0001583	missense	6660	exon7			ATCCAGCCTTATA	AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"""SRY (sex determining region Y)-boxes"""	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.922G>A	12.37:g.23818387C>T	ENSP00000398273:p.Ala308Thr	66	0		42	33	NM_006940	0	0	0	0	0	B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Missense_Mutation	SNP	ENST00000451604.2	37	CCDS8699.1	.	.	.	.	.	.	.	.	.	.	C	17.65	3.443050	0.63067	.	.	ENSG00000134532	ENST00000546136;ENST00000309359;ENST00000381381;ENST00000451604;ENST00000435266;ENST00000537393;ENST00000541536;ENST00000545921	D;D;D;D;D;D;D	0.96885	-4.16;-4.16;-4.09;-4.16;-4.16;-4.09;-4.16	5.28	4.38	0.52667	.	0.237597	0.43919	N	0.000520	D	0.91164	0.7217	N	0.08118	0	0.49582	D	0.9998	B;B;B	0.28783	0.222;0.0;0.142	B;B;B	0.36959	0.237;0.001;0.129	D	0.89234	0.3579	10	0.72032	D	0.01	.	9.5709	0.39427	0.0:0.7827:0.1423:0.0749	.	273;295;308	F5H0I3;P35711-4;P35711	.;.;SOX5_HUMAN	T	295;295;295;308;260;273;295;298	ENSP00000437487:A295T;ENSP00000308927:A295T;ENSP00000370788:A295T;ENSP00000398273:A308T;ENSP00000439832:A273T;ENSP00000441973:A295T;ENSP00000443520:A298T	ENSP00000308927:A295T	A	-	1	0	SOX5	23709654	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.185000	0.65076	1.436000	0.47453	0.655000	0.94253	GCT	.		0.483	SOX5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402006.2	NM_006940	
FAR2	55711	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	12	29446360	29446360	+	Missense_Mutation	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:29446360A>G	ENST00000536681.3	+	3	563	c.317A>G	c.(316-318)aAc>aGc	p.N106S	FAR2_ENST00000182377.4_Missense_Mutation_p.N106S|FAR2_ENST00000547116.1_Missense_Mutation_p.N9S|RP11-996F15.2_ENST00000553105.1_RNA	NM_001271783.1|NM_001271784.1	NP_001258712.1|NP_001258713.1	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	106					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	fatty-acyl-CoA reductase (alcohol-forming) activity (GO:0080019)|long-chain-fatty-acyl-CoA reductase activity (GO:0050062)			central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						TCCTGTACAAACATAATATTT	0.423																																					p.N106S		.											.	FAR2-90	0			c.A317G						.						134.0	134.0	134.0					12																	29446360		2203	4300	6503	SO:0001583	missense	55711	exon3			GTACAAACATAAT	AL136843	CCDS8717.1, CCDS61084.1	12p11.23	2013-07-30	2008-06-06	2008-06-06	ENSG00000064763	ENSG00000064763	1.2.1.-	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	25531	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 10E, member 2"""		"""male sterility domain containing 1"""	MLSTD1		15220348, 15220349, 19027726	Standard	NM_001271783		Approved	FLJ10462, SDR10E2	uc001ris.5	Q96K12	OTTHUMG00000169320	ENST00000536681.3:c.317A>G	12.37:g.29446360A>G	ENSP00000443291:p.Asn106Ser	72	0		80	34	NM_018099	0	0	0	0	0	F8VV73|Q9H0D5|Q9NVW8	Missense_Mutation	SNP	ENST00000536681.3	37	CCDS8717.1	.	.	.	.	.	.	.	.	.	.	A	8.836	0.941015	0.18281	.	.	ENSG00000064763	ENST00000551451;ENST00000536681;ENST00000182377;ENST00000547116	T;T;T;T	0.41400	1.0;2.0;2.0;2.0	5.43	5.43	0.79202	NAD(P)-binding domain (1);Male sterility, NAD-binding (1);	0.046402	0.85682	D	0.000000	T	0.34629	0.0904	N	0.20807	0.61	0.46981	D	0.999271	P	0.37688	0.605	P	0.46172	0.506	T	0.09465	-1.0673	10	0.09338	T	0.73	-6.3419	13.436	0.61084	1.0:0.0:0.0:0.0	.	106	Q96K12	FACR2_HUMAN	S	9;106;106;9	ENSP00000450117:N9S;ENSP00000443291:N106S;ENSP00000182377:N106S;ENSP00000449349:N9S	ENSP00000182377:N106S	N	+	2	0	FAR2	29337627	1.000000	0.71417	0.031000	0.17742	0.050000	0.14768	8.327000	0.90012	2.060000	0.61445	0.533000	0.62120	AAC	.		0.423	FAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403479.2	NM_018099	
PKP2	5318	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	32996207	32996207	+	Silent	SNP	G	G	A	rs377424658	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:32996207G>A	ENST00000070846.6	-	6	1443	c.1419C>T	c.(1417-1419)ggC>ggT	p.G473G	PKP2_ENST00000340811.4_Intron	NM_004572.3	NP_004563.2	Q99959	PKP2_HUMAN	plakophilin 2	473					adherens junction maintenance (GO:0034334)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential (GO:0086001)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cell-cell signaling involved in cardiac conduction (GO:0086019)|desmosome assembly (GO:0002159)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|intermediate filament bundle assembly (GO:0045110)|lipid homeostasis (GO:0055088)|maintenance of organ identity (GO:0048496)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of tight junction assembly (GO:2000810)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	adherens junction (GO:0005912)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|protein kinase C binding (GO:0005080)|sodium channel regulator activity (GO:0017080)			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					gagccaccgcgcccggccAGC	0.552													G|||	2	0.000399361	0.0	0.0	5008	,	,		16917	0.002		0.0	False		,,,				2504	0.0				p.G473G		.											.	PKP2-92	0			c.C1419T						.						60.0	60.0	60.0					12																	32996207		2203	4300	6503	SO:0001819	synonymous_variant	5318	exon6			CACCGCGCCCGGC	X97675	CCDS8731.1, CCDS31771.1	12p11	2014-09-17				ENSG00000057294		"""Armadillo repeat containing"""	9024	protein-coding gene	gene with protein product		602861				8922383	Standard	NM_001005242		Approved		uc001rlj.4	Q99959	OTTHUMG00000169500	ENST00000070846.6:c.1419C>T	12.37:g.32996207G>A		35	0		44	19	NM_004572	0	0	0	0	0	A0AV37|B8QFA1|B8QGS6|B8QGS7|D3DUW9|Q4VC01|Q99960	Silent	SNP	ENST00000070846.6	37	CCDS8731.1																																																																																			.		0.552	PKP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404449.1	NM_004572	
TMEM117	84216	bcgsc.ca	37	12	44238546	44238546	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:44238546C>T	ENST00000266534.3	+	2	219	c.92C>T	c.(91-93)gCg>gTg	p.A31V	TMEM117_ENST00000536799.1_5'Flank|TMEM117_ENST00000551577.1_Missense_Mutation_p.A31V	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	31						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		TTAATATTTGCGGAGGACCCA	0.393																																					p.A31V		.											.	TMEM117-90	0			c.C92T						.						168.0	167.0	167.0					12																	44238546		2203	4300	6503	SO:0001583	missense	84216	exon2			TATTTGCGGAGGA	BC060798	CCDS8745.1, CCDS73462.1	12q12	2006-02-03				ENSG00000139173			25308	protein-coding gene	gene with protein product						11230166	Standard	NM_001286211		Approved	DKFZp434K2435	uc001rod.3	Q9H0C3	OTTHUMG00000169427	ENST00000266534.3:c.92C>T	12.37:g.44238546C>T	ENSP00000266534:p.Ala31Val	96	3		119	40	NM_032256	0	0	3	4	1		Missense_Mutation	SNP	ENST00000266534.3	37	CCDS8745.1	.	.	.	.	.	.	.	.	.	.	C	35	5.573422	0.96553	.	.	ENSG00000139173	ENST00000551577;ENST00000266534	T;T	0.56444	0.46;0.46	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.71728	0.3374	L	0.61218	1.895	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.76071	0.987;0.987	T	0.71133	-0.4681	10	0.54805	T	0.06	-13.2772	19.9019	0.96988	0.0:1.0:0.0:0.0	.	31;31	F8VS00;Q9H0C3	.;TM117_HUMAN	V	31	ENSP00000448595:A31V;ENSP00000266534:A31V	ENSP00000266534:A31V	A	+	2	0	TMEM117	42524813	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.732000	0.84908	2.781000	0.95711	0.650000	0.86243	GCG	.		0.393	TMEM117-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403969.1	NM_032256	
SLC38A1	81539	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	46591521	46591521	+	Missense_Mutation	SNP	T	T	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:46591521T>A	ENST00000398637.5	-	16	2038	c.1344A>T	c.(1342-1344)aaA>aaT	p.K448N	SLC38A1_ENST00000552197.1_Missense_Mutation_p.K448N|SLC38A1_ENST00000549633.1_5'Flank|SLC38A1_ENST00000439706.1_Missense_Mutation_p.K448N|SLC38A1_ENST00000546893.1_Missense_Mutation_p.K448N|SLC38A1_ENST00000549049.1_Missense_Mutation_p.K448N	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	448					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|neutral amino acid transport (GO:0015804)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neutral amino acid transmembrane transporter activity (GO:0015175)|sodium:amino acid symporter activity (GO:0005283)			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			TTTGAGTTCCTTTATCTCCAT	0.328																																					p.K448N		.											.	SLC38A1-518	0			c.A1344T						.						154.0	156.0	155.0					12																	46591521		1805	4082	5887	SO:0001583	missense	81539	exon16			AGTTCCTTTATCT	AF271070	CCDS41774.1, CCDS61106.1	12q13.11	2013-05-22				ENSG00000111371		"""Solute carriers"""	13447	protein-coding gene	gene with protein product		608490				10891391	Standard	NM_030674		Approved	ATA1, NAT2, SAT1	uc001rpc.3	Q9H2H9		ENST00000398637.5:c.1344A>T	12.37:g.46591521T>A	ENSP00000381634:p.Lys448Asn	79	0		82	41	NM_030674	0	0	0	1	1	Q8NC61|Q8NCF8|Q96JX2|Q9H2Q2	Missense_Mutation	SNP	ENST00000398637.5	37	CCDS41774.1	.	.	.	.	.	.	.	.	.	.	T	16.27	3.076264	0.55646	.	.	ENSG00000111371	ENST00000549049;ENST00000439706;ENST00000398637;ENST00000546893;ENST00000552197	T;T;T;T;T	0.02472	4.32;4.32;4.32;4.32;4.28	5.95	-2.09	0.07232	.	0.354917	0.27198	N	0.020477	T	0.02119	0.0066	N	0.25890	0.77	0.22521	N	0.999023	P;B	0.41265	0.744;0.27	B;B	0.38327	0.271;0.127	T	0.46652	-0.9176	10	0.30854	T	0.27	-0.0449	10.7568	0.46241	0.0:0.3908:0.0:0.6092	.	448;448	F8VX04;Q9H2H9	.;S38A1_HUMAN	N	448	ENSP00000449607:K448N;ENSP00000398142:K448N;ENSP00000381634:K448N;ENSP00000447853:K448N;ENSP00000449756:K448N	ENSP00000381634:K448N	K	-	3	2	SLC38A1	44877788	0.536000	0.26378	0.863000	0.33907	0.974000	0.67602	0.703000	0.25646	-0.622000	0.05626	-0.263000	0.10527	AAA	.		0.328	SLC38A1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404218.2		
SLC38A2	54407	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	46756130	46756130	+	Silent	SNP	A	A	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:46756130A>T	ENST00000256689.5	-	15	1803	c.1359T>A	c.(1357-1359)ctT>ctA	p.L453L	SLC38A2_ENST00000551374.1_Silent_p.L291L|SLC38A2_ENST00000547252.1_5'Flank	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	453					amino acid transport (GO:0006865)|glutamate secretion (GO:0014047)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|sodium ion transport (GO:0006814)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|symporter activity (GO:0015293)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		AGGCAGAAGGAAGAATAAAAA	0.328																																					p.L453L	Ovarian(9;448 492 8335 28722 40361)	.											.	SLC38A2-226	0			c.T1359A						.						69.0	63.0	65.0					12																	46756130		2203	4296	6499	SO:0001819	synonymous_variant	54407	exon15			AGAAGGAAGAATA	AB037803	CCDS8749.1	12q13.11	2014-08-12			ENSG00000134294	ENSG00000134294		"""Solute carriers"""	13448	protein-coding gene	gene with protein product		605180				10747860, 17237199	Standard	NM_018976		Approved	SAT2, ATA2, KIAA1382, SNAT2	uc001rpg.3	Q96QD8	OTTHUMG00000169471	ENST00000256689.5:c.1359T>A	12.37:g.46756130A>T		103	0		125	45	NM_018976	0	0	14	24	10	Q6IA88|Q6ZMG2|Q9HAV3|Q9NVA8|Q9P2G5	Silent	SNP	ENST00000256689.5	37	CCDS8749.1																																																																																			.		0.328	SLC38A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404226.1		
PCED1B	91523	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	12	47629462	47629462	+	Frame_Shift_Del	DEL	A	A	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:47629462delA	ENST00000546455.1	+	4	1347	c.616delA	c.(616-618)aaafs	p.K206fs	PCED1B_ENST00000432328.1_Frame_Shift_Del_p.K206fs|RP11-493L12.3_ENST00000547748.1_RNA			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B	206							hydrolase activity (GO:0016787)										CGAGGCACGTAAACATAACTT	0.587																																					p.K206fs		.											.	.	0			c.616delA						.						35.0	26.0	29.0					12																	47629462		2200	4297	6497	SO:0001589	frameshift_variant	91523	exon2			GCACGTAAACATA	BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"""family with sequence similarity 113, member B"""	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617	ENST00000546455.1:c.616delA	12.37:g.47629462delA	ENSP00000446688:p.Lys206fs	69	0		91	32	NM_138371	0	0	0	0	0	Q96B20	Frame_Shift_Del	DEL	ENST00000546455.1	37	CCDS8752.1																																																																																			.		0.587	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405079.1	NM_138371	
COL2A1	1280	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	48383041	48383041	+	Silent	SNP	A	A	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:48383041A>T	ENST00000380518.3	-	18	1256	c.1092T>A	c.(1090-1092)ggT>ggA	p.G364G	COL2A1_ENST00000493991.1_5'Flank|COL2A1_ENST00000337299.6_Silent_p.G295G	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	364	Triple-helical region.				axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	GGAAGCCAGGACCACCAGCAG	0.602																																					p.G364G		.											.	COL2A1-92	0			c.T1092A						.						108.0	101.0	103.0					12																	48383041		2203	4300	6503	SO:0001819	synonymous_variant	1280	exon18			GCCAGGACCACCA	X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"""Collagens"""	2200	protein-coding gene	gene with protein product		120140	"""collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)"", ""arthroophthalmopathy, progressive (Stickler syndrome)"""	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.1092T>A	12.37:g.48383041A>T		105	0		127	46	NM_001844	0	0	0	0	0	A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Silent	SNP	ENST00000380518.3	37	CCDS41778.1																																																																																			.		0.602	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313810.2	NM_001844	
COL2A1	1280	hgsc.bcm.edu;bcgsc.ca	37	12	48391429	48391429	+	Frame_Shift_Del	DEL	G	G	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:48391429delG	ENST00000380518.3	-	7	655	c.491delC	c.(490-492)cctfs	p.P164fs	COL2A1_ENST00000337299.6_Frame_Shift_Del_p.P95fs	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	164					axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	gggaggaccaggggggccagg	0.562																																					p.P164fs		.											.	COL2A1-92	0			c.491delC						.						39.0	43.0	42.0					12																	48391429		2202	4300	6502	SO:0001589	frameshift_variant	1280	exon7			GGACCAGGGGGGC	X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"""Collagens"""	2200	protein-coding gene	gene with protein product		120140	"""collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)"", ""arthroophthalmopathy, progressive (Stickler syndrome)"""	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.491delC	12.37:g.48391429delG	ENSP00000369889:p.Pro164fs	96	2		146	57	NM_001844	0	0	0	0	0	A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Frame_Shift_Del	DEL	ENST00000380518.3	37	CCDS41778.1																																																																																			.		0.562	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313810.2	NM_001844	
ADCY6	112	hgsc.bcm.edu	37	12	49177012	49177012	+	Missense_Mutation	SNP	G	G	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:49177012G>T	ENST00000307885.4	-	1	900	c.206C>A	c.(205-207)gCc>gAc	p.A69D	ADCY6_ENST00000357869.3_Missense_Mutation_p.A69D|ADCY6_ENST00000550422.1_Missense_Mutation_p.A69D	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	69					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)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|dopamine receptor signaling pathway (GO:0007212)|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)|negative regulation of neuron projection development (GO:0010977)|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)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						CCGGATGAAGGCGTCATCCTG	0.716																																					p.A69D		.											.	ADCY6-90	0			c.C206A						.						18.0	21.0	20.0					12																	49177012		2186	4254	6440	SO:0001583	missense	112	exon2			ATGAAGGCGTCAT		CCDS8767.1, CCDS8768.1	12q12-q13	2013-02-04				ENSG00000174233	4.6.1.1	"""Adenylate cyclases"""	237	protein-coding gene	gene with protein product		600294					Standard	NM_015270		Approved	AC6	uc001rsh.4	O43306		ENST00000307885.4:c.206C>A	12.37:g.49177012G>T	ENSP00000311405:p.Ala69Asp	5	0		55	22	NM_020983	0	0	0	0	0	Q9NR75|Q9UDB0	Missense_Mutation	SNP	ENST00000307885.4	37	CCDS8767.1	.	.	.	.	.	.	.	.	.	.	G	12.18	1.859185	0.32884	.	.	ENSG00000174233	ENST00000357869;ENST00000550422;ENST00000307885	T;T;T	0.77489	-1.1;-1.1;-1.1	5.13	4.23	0.50019	.	0.418634	0.26366	N	0.024782	T	0.58991	0.2161	N	0.08118	0	0.30413	N	0.778857	B;B	0.21905	0.062;0.0	B;B	0.20955	0.032;0.001	T	0.54351	-0.8307	10	0.22706	T	0.39	.	14.1406	0.65318	0.0:0.17:0.83:0.0	.	69;69	O43306-2;O43306	.;ADCY6_HUMAN	D	69	ENSP00000350536:A69D;ENSP00000446730:A69D;ENSP00000311405:A69D	ENSP00000311405:A69D	A	-	2	0	ADCY6	47463279	0.819000	0.29175	0.923000	0.36655	0.692000	0.40212	1.812000	0.38952	1.377000	0.46286	0.561000	0.74099	GCC	.		0.716	ADCY6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408863.1	NM_020983	
WNT1	7471	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	12	49375164	49375164	+	Frame_Shift_Del	DEL	C	C	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:49375164delC	ENST00000293549.3	+	4	890	c.854delC	c.(853-855)tccfs	p.S285fs		NM_005430.3	NP_005421.1	P04628	WNT1_HUMAN	wingless-type MMTV integration site family, member 1	285					bone development (GO:0060348)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to peptide hormone stimulus (GO:0071375)|central nervous system morphogenesis (GO:0021551)|cerebellum formation (GO:0021588)|diencephalon development (GO:0021536)|embryonic axis specification (GO:0000578)|forebrain anterior/posterior pattern specification (GO:0021797)|hematopoietic stem cell proliferation (GO:0071425)|hepatocyte differentiation (GO:0070365)|inner ear morphogenesis (GO:0042472)|midbrain development (GO:0030901)|midbrain-hindbrain boundary maturation during brain development (GO:0022004)|myoblast fusion (GO:0007520)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell aging (GO:0090344)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron differentiation (GO:0030182)|neuron fate determination (GO:0048664)|organ regeneration (GO:0031100)|positive regulation of cell proliferation (GO:0008284)|positive regulation of dermatome development (GO:0061184)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to wounding (GO:0009611)|signal transduction in response to DNA damage (GO:0042770)|Spemann organizer formation (GO:0060061)|spinal cord association neuron differentiation (GO:0021527)|T cell differentiation in thymus (GO:0033077)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(357;0.244)		AAACCGCCCTCCCCCCACGAC	0.701																																					p.S285fs		.											.	WNT1-1083	0			c.854delC						.						14.0	16.0	15.0					12																	49375164		2172	4245	6417	SO:0001589	frameshift_variant	7471	exon4			CGCCCTCCCCCCA	X03072	CCDS8776.1	12q13	2013-02-28				ENSG00000125084		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12774	protein-coding gene	gene with protein product		164820		INT1		2998762, 3281802	Standard	NM_005430		Approved		uc001rsu.3	P04628	OTTHUMG00000170403	ENST00000293549.3:c.854delC	12.37:g.49375164delC	ENSP00000293549:p.Ser285fs	34	0		133	58	NM_005430	0	0	0	0	0	Q5U0N2	Frame_Shift_Del	DEL	ENST00000293549.3	37	CCDS8776.1																																																																																			.		0.701	WNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408937.1		
KMT2D	8085	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	49416426	49416426	+	Missense_Mutation	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:49416426T>C	ENST00000301067.7	-	51	16284	c.16285A>G	c.(16285-16287)Acc>Gcc	p.T5429A		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5429	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CGAATGATGGTGCCAATGTAC	0.547																																					p.T5429A		.											.	MLL2-612	0			c.A16285G						.						186.0	192.0	190.0					12																	49416426		2032	4170	6202	SO:0001583	missense	8085	exon51			TGATGGTGCCAAT	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.16285A>G	12.37:g.49416426T>C	ENSP00000301067:p.Thr5429Ala	236	0		297	34	NM_003482	1	0	39	43	3	O14687	Missense_Mutation	SNP	ENST00000301067.7	37	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	T	12.54	1.968577	0.34754	.	.	ENSG00000167548	ENST00000301067;ENST00000526209	D;D	0.85556	-2.0;-2.0	5.09	5.09	0.68999	SET domain (3);	0.000000	0.38548	N	0.001643	D	0.85839	0.5790	N	0.16368	0.405	0.50171	D	0.999853	D	0.76494	0.999	D	0.72625	0.978	D	0.88317	0.2960	10	0.87932	D	0	.	14.1527	0.65398	0.0:0.0:0.0:1.0	.	5429	O14686	MLL2_HUMAN	A	5429;110	ENSP00000301067:T5429A;ENSP00000435714:T110A	ENSP00000301067:T5429A	T	-	1	0	MLL2	47702693	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.289000	0.72696	2.059000	0.61396	0.482000	0.46254	ACC	.		0.547	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2		
KMT2D	8085	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	49437705	49437705	+	Silent	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:49437705C>T	ENST00000301067.7	-	22	5264	c.5265G>A	c.(5263-5265)caG>caA	p.Q1755Q		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1755					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GCCCTCGCCGCTGTTGCTTCT	0.582											OREG0021780	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.Q1755Q		.											.	MLL2-612	0			c.G5265A						.						171.0	178.0	176.0					12																	49437705		2144	4251	6395	SO:0001819	synonymous_variant	8085	exon22			TCGCCGCTGTTGC	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.5265G>A	12.37:g.49437705C>T		161	0	962	212	92	NM_003482	0	0	2	4	2	O14687	Silent	SNP	ENST00000301067.7	37	CCDS44873.1																																																																																			.		0.582	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2		
LMBR1L	55716	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	49491821	49491821	+	Silent	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:49491821C>T	ENST00000267102.8	-	16	1650	c.1308G>A	c.(1306-1308)gtG>gtA	p.V436V	LMBR1L_ENST00000547382.1_Silent_p.V416V|LMBR1L_ENST00000395141.4_Silent_p.V431V	NM_018113.2	NP_060583.2	Q6UX01	LMBRL_HUMAN	limb development membrane protein 1-like	436					endocytosis (GO:0006897)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TGTAGAGGAACACAATGTAGA	0.562											OREG0021783	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.V436V		.											.	LMBR1L-227	0			c.G1308A						.						149.0	143.0	145.0					12																	49491821		2203	4300	6503	SO:0001819	synonymous_variant	55716	exon16			GAGGAACACAATG	AB033000	CCDS8780.2, CCDS73466.1	12q13.12	2013-08-05	2013-08-05		ENSG00000139636	ENSG00000139636			18268	protein-coding gene	gene with protein product		610007	"""limb region 1 homolog (mouse)-like"""			10574461, 11287427	Standard	XM_005269022		Approved	FLJ10494, KIAA1174	uc001rth.4	Q6UX01	OTTHUMG00000150511	ENST00000267102.8:c.1308G>A	12.37:g.49491821C>T		95	0	962	150	48	NM_018113	0	0	6	16	10	Q969J4|Q96BY8|Q96HN8|Q9NT09|Q9NVE1|Q9NVU9|Q9ULP6	Silent	SNP	ENST00000267102.8	37	CCDS8780.2																																																																																			.		0.562	LMBR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318696.1	NM_018113	
FAM186A	121006	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	50725578	50725578	+	Silent	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:50725578A>G	ENST00000327337.5	-	6	6722	c.6723T>C	c.(6721-6723)ctT>ctC	p.L2241L	FAM186A_ENST00000543096.1_Silent_p.L252L|FAM186A_ENST00000543111.1_Silent_p.L2241L	NM_001145475.1	NP_001138947.1	A6NE01	F186A_HUMAN	family with sequence similarity 186, member A	2241																	TAGGTTGACTAAGATTCAATT	0.348																																					p.L2241L	NSCLC(138;1796 1887 12511 19463 37884)	.											.	FAM186A-68	0			c.T6723C						.						177.0	146.0	155.0					12																	50725578		692	1591	2283	SO:0001819	synonymous_variant	121006	exon6			TTGACTAAGATTC		CCDS44878.1	12q13.13	2009-04-22			ENSG00000185958	ENSG00000185958			26980	protein-coding gene	gene with protein product							Standard	NM_001145475		Approved	LOC121006	uc001rwl.2	A6NE01	OTTHUMG00000167889	ENST00000327337.5:c.6723T>C	12.37:g.50725578A>G		45	0		62	24	NM_001145475	0	0	0	0	0		Silent	SNP	ENST00000327337.5	37	CCDS44878.1																																																																																			.		0.348	FAM186A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396838.1	XM_001718353	
LARP4	113251	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	50867901	50867901	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:50867901C>T	ENST00000398473.2	+	15	1899	c.1787C>T	c.(1786-1788)gCt>gTt	p.A596V	LARP4_ENST00000347328.5_Missense_Mutation_p.A525V|LARP4_ENST00000293618.8_Missense_Mutation_p.A525V|LARP4_ENST00000429001.3_Missense_Mutation_p.A602V|LARP4_ENST00000518444.1_Missense_Mutation_p.A595V	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	596					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						GCAAGTACTGCTTCACCATGT	0.358																																					p.A596V		.											.	LARP4-91	0			c.C1787T						.						169.0	164.0	165.0					12																	50867901		1862	4104	5966	SO:0001583	missense	113251	exon15			GTACTGCTTCACC	AY004310	CCDS41782.1, CCDS44879.1, CCDS44880.1, CCDS44879.2, CCDS53789.1, CCDS53790.1	12q13.12	2005-08-09			ENSG00000161813	ENSG00000161813		"""La ribonucleoprotein domain containing"""	24320	protein-coding gene	gene with protein product						12477932	Standard	NM_052879		Approved	PP13296	uc001rwp.2	Q71RC2	OTTHUMG00000163724	ENST00000398473.2:c.1787C>T	12.37:g.50867901C>T	ENSP00000381490:p.Ala596Val	149	0		205	81	NM_052879	0	0	7	15	8	A8K6T1|E9PDG5|G3XAA8|G5E976|Q5CZ97|Q6ZV14|Q96NF9	Missense_Mutation	SNP	ENST00000398473.2	37	CCDS41782.1	.	.	.	.	.	.	.	.	.	.	C	11.73	1.726575	0.30593	.	.	ENSG00000161813	ENST00000293618;ENST00000429001;ENST00000398473;ENST00000518444;ENST00000347328	T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93	4.13	3.23	0.37069	.	0.497939	0.21358	N	0.075852	T	0.35537	0.0935	L	0.54323	1.7	0.19775	N	0.999957	B;B;B;B;B;B	0.31548	0.001;0.003;0.006;0.015;0.058;0.328	B;B;B;B;B;B	0.30495	0.005;0.006;0.009;0.009;0.013;0.116	T	0.26985	-1.0087	10	0.45353	T	0.12	.	9.4237	0.38567	0.0:0.8921:0.0:0.1079	.	6;595;525;525;596;602	Q8WVX5;Q71RC2-3;G3XAA8;G5E976;Q71RC2;Q71RC2-4	.;.;.;.;LARP4_HUMAN;.	V	525;602;596;595;525	ENSP00000293618:A525V;ENSP00000415464:A602V;ENSP00000381490:A596V;ENSP00000429077:A595V;ENSP00000340901:A525V	ENSP00000293618:A525V	A	+	2	0	LARP4	49154168	0.960000	0.32886	1.000000	0.80357	0.348000	0.29142	2.021000	0.41020	2.298000	0.77334	0.446000	0.29264	GCT	.		0.358	LARP4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374981.1	NM_052879	
KRT84	3890	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	52777465	52777465	+	Missense_Mutation	SNP	G	G	A	rs370908162		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:52777465G>A	ENST00000257951.3	-	2	730	c.664C>T	c.(664-666)Cgg>Tgg	p.R222W	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	222	Coil 1B.|Rod.				hair follicle development (GO:0001942)|nail development (GO:0035878)|regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of epidermis (GO:0030280)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		AACTGCCTCCGCAGGTTGGTG	0.547																																					p.R222W		.											.	KRT84-91	0			c.C664T						.	G	TRP/ARG	0,4406		0,0,2203	71.0	67.0	68.0		664	2.2	1.0	12		68	1,8599	1.2+/-3.3	0,1,4299	no	missense	KRT84	NM_033045.3	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	222/601	52777465	1,13005	2203	4300	6503	SO:0001583	missense	3890	exon2			GCCTCCGCAGGTT	Y19209	CCDS8825.1	12q13	2013-06-25	2006-07-17	2006-07-17	ENSG00000161849	ENSG00000161849		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6461	protein-coding gene	gene with protein product	"""hard keratin type II 4"""	602766	"""keratin, hair, basic, 4"""	KRTHB4		2431943, 16831889	Standard	NM_033045		Approved	Hb-4	uc001sah.1	Q9NSB2	OTTHUMG00000169634	ENST00000257951.3:c.664C>T	12.37:g.52777465G>A	ENSP00000257951:p.Arg222Trp	94	1		92	50	NM_033045	0	0	0	0	0	B2RA43|Q6ISB0|Q701L6	Missense_Mutation	SNP	ENST00000257951.3	37	CCDS8825.1	.	.	.	.	.	.	.	.	.	.	G	16.53	3.148115	0.57151	0.0	1.16E-4	ENSG00000161849	ENST00000257951	D	0.93019	-3.15	5.32	2.24	0.28232	Filament (1);	0.154193	0.30565	N	0.009351	D	0.96390	0.8822	M	0.85462	2.755	0.32485	N	0.540933	D	0.89917	1.0	D	0.78314	0.991	D	0.96795	0.9585	10	0.72032	D	0.01	.	13.2345	0.59961	0.0:0.0:0.356:0.644	.	222	Q9NSB2	KRT84_HUMAN	W	222	ENSP00000257951:R222W	ENSP00000257951:R222W	R	-	1	2	KRT84	51063732	0.049000	0.20398	0.977000	0.42913	0.468000	0.32798	0.774000	0.26675	0.887000	0.36136	0.655000	0.94253	CGG	.		0.547	KRT84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405187.1	NM_033045	
ESPL1	9700	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	53673526	53673526	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:53673526C>T	ENST00000257934.4	+	12	2466	c.2375C>T	c.(2374-2376)gCt>gTt	p.A792V	ESPL1_ENST00000552462.1_Missense_Mutation_p.A792V	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	792					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CCCATGCAGGCTCTGGAGGTC	0.592																																					p.A792V	Colon(53;1069 1201 2587 5382)	.											.	ESPL1-228	0			c.C2375T						.						110.0	107.0	108.0					12																	53673526		2203	4300	6503	SO:0001583	missense	9700	exon12			TGCAGGCTCTGGA	D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.2375C>T	12.37:g.53673526C>T	ENSP00000257934:p.Ala792Val	37	0		71	28	NM_012291	0	0	0	0	0		Missense_Mutation	SNP	ENST00000257934.4	37	CCDS8852.1	.	.	.	.	.	.	.	.	.	.	C	16.77	3.216093	0.58452	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	T;T	0.17691	2.26;2.26	5.08	5.08	0.68730	.	0.111706	0.64402	D	0.000010	T	0.29256	0.0728	M	0.72118	2.19	0.42105	D	0.991357	B;P	0.48589	0.419;0.912	B;P	0.47673	0.199;0.554	T	0.04915	-1.0918	10	0.66056	D	0.02	.	15.5222	0.75874	0.0:1.0:0.0:0.0	.	3;792	B4DRU1;Q14674	.;ESPL1_HUMAN	V	792;467;792	ENSP00000257934:A792V;ENSP00000449831:A792V	ENSP00000257934:A792V	A	+	2	0	ESPL1	51959793	1.000000	0.71417	1.000000	0.80357	0.364000	0.29643	3.673000	0.54591	2.635000	0.89317	0.551000	0.68910	GCT	.		0.592	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291	
OR9K2	441639	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	55523992	55523992	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:55523992G>A	ENST00000305377.5	+	1	528	c.440G>A	c.(439-441)cGc>cAc	p.R147H		NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K, member 2	147						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(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						GCTTATGACCGCTTTATTGCC	0.502																																					p.R147H		.											.	OR9K2-69	0			c.G440A						.						116.0	112.0	113.0					12																	55523992		2203	4300	6503	SO:0001583	missense	441639	exon1			ATGACCGCTTTAT	BK004326	CCDS31814.1	12q13.2	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	15339	protein-coding gene	gene with protein product							Standard	NM_001005243		Approved		uc010spe.2	Q8NGE7	OTTHUMG00000169827	ENST00000305377.5:c.440G>A	12.37:g.55523992G>A	ENSP00000307598:p.Arg147His	108	0		86	32	NM_001005243	0	0	0	0	0	B9EH19|Q6IFD6	Missense_Mutation	SNP	ENST00000305377.5	37	CCDS31814.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.425138	0.83667	.	.	ENSG00000170605	ENST00000305377	T	0.77489	-1.1	4.98	4.06	0.47325	GPCR, rhodopsin-like superfamily (1);	0.126578	0.33572	N	0.004770	D	0.87301	0.6143	M	0.85859	2.78	0.43965	D	0.996644	D	0.76494	0.999	D	0.65140	0.932	D	0.88938	0.3378	10	0.66056	D	0.02	-12.0836	12.6317	0.56661	0.0842:0.0:0.9158:0.0	.	147	Q8NGE7	OR9K2_HUMAN	H	147	ENSP00000307598:R147H	ENSP00000307598:R147H	R	+	2	0	OR9K2	53810259	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.366000	0.97143	1.401000	0.46761	0.650000	0.86243	CGC	.		0.502	OR9K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406105.1		
SUOX	6821	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	56397807	56397807	+	Missense_Mutation	SNP	C	C	T	rs76442086		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:56397807C>T	ENST00000394109.3	+	3	1358	c.634C>T	c.(634-636)Cct>Tct	p.P212S	SUOX_ENST00000548274.1_Missense_Mutation_p.P212S|SUOX_ENST00000266971.3_Missense_Mutation_p.P212S|SUOX_ENST00000356124.4_Missense_Mutation_p.P212S|SUOX_ENST00000551841.2_Intron|SUOX_ENST00000394115.2_Missense_Mutation_p.P212S			P51687	SUOX_HUMAN	sulfite oxidase	212	Moco domain. {ECO:0000250}.				cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	mitochondrial matrix (GO:0005759)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|molybdenum ion binding (GO:0030151)|molybdopterin cofactor binding (GO:0043546)|sulfite oxidase activity (GO:0008482)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)			CACACCCAACCCTATCTTCTT	0.547																																					p.P212S		.											.	SUOX-90	0			c.C634T						.						116.0	107.0	110.0					12																	56397807		2203	4300	6503	SO:0001583	missense	6821	exon6			CCCAACCCTATCT	BC065193	CCDS8901.2	12q13.13	2011-02-10			ENSG00000139531	ENSG00000139531	1.8.3.1		11460	protein-coding gene	gene with protein product		606887				7599189	Standard	XM_005269112		Approved		uc001siz.3	P51687	OTTHUMG00000128503	ENST00000394109.3:c.634C>T	12.37:g.56397807C>T	ENSP00000377668:p.Pro212Ser	209	0		241	94	NM_000456	0	0	14	26	12		Missense_Mutation	SNP	ENST00000394109.3	37	CCDS8901.2	.	.	.	.	.	.	.	.	.	.	C	12.68	2.010398	0.35511	.	.	ENSG00000139531	ENST00000356124;ENST00000266971;ENST00000394115;ENST00000548274;ENST00000394109	D;D;D;D;D	0.94046	-3.34;-3.34;-3.34;-3.34;-3.34	5.12	1.28	0.21552	Oxidoreductase, molybdopterin-binding domain (2);	0.195106	0.44097	N	0.000489	D	0.83220	0.5207	N	0.16233	0.39	0.35033	D	0.758937	B	0.16396	0.017	B	0.20384	0.029	T	0.71951	-0.4437	10	0.20046	T	0.44	-3.2399	5.2816	0.15678	0.0:0.5462:0.1385:0.3153	.	212	P51687	SUOX_HUMAN	S	212	ENSP00000348440:P212S;ENSP00000266971:P212S;ENSP00000377674:P212S;ENSP00000450245:P212S;ENSP00000377668:P212S	ENSP00000266971:P212S	P	+	1	0	SUOX	54684074	1.000000	0.71417	0.940000	0.37924	0.977000	0.68977	2.208000	0.42797	0.139000	0.18822	0.591000	0.81541	CCT	.		0.547	SUOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250309.1	NM_000456	
ANKRD52	283373	hgsc.bcm.edu;bcgsc.ca;mdanderson.org	37	12	56638934	56638934	+	Silent	SNP	C	C	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:56638934C>G	ENST00000267116.7	-	22	2566	c.2445G>C	c.(2443-2445)ccG>ccC	p.P815P	ANKRD52_ENST00000548241.1_5'Flank	NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	815										endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						GGTACGAAAACGGGCTGTGTT	0.522																																					p.P815P		.											.	ANKRD52-70	0			c.G2445C						.						185.0	166.0	172.0					12																	56638934		2006	4189	6195	SO:0001819	synonymous_variant	283373	exon22			CGAAAACGGGCTG	AK091555	CCDS44920.1	12q13.3	2013-01-10			ENSG00000139645	ENSG00000139645		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	26614	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit C"""						Standard	NM_173595		Approved	FLJ34236, PP6-ARS-C	uc001skm.4	Q8NB46	OTTHUMG00000170329	ENST00000267116.7:c.2445G>C	12.37:g.56638934C>G		146	0		197	85	NM_173595	0	0	5	5	0	A6NE79|B1Q2K2	Silent	SNP	ENST00000267116.7	37	CCDS44920.1																																																																																			.		0.522	ANKRD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408539.1	NM_173595	
CS	1431	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	56676360	56676360	+	Missense_Mutation	SNP	C	C	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:56676360C>G	ENST00000351328.3	-	6	622	c.432G>C	c.(430-432)agG>agC	p.R144S	CS_ENST00000548567.1_Missense_Mutation_p.R78S|CS_ENST00000542324.2_Missense_Mutation_p.R131S	NM_004077.2	NP_004068.2	O75390	CISY_HUMAN	citrate synthase	144					carbohydrate metabolic process (GO:0005975)|cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	citrate (Si)-synthase activity (GO:0004108)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	17		Myeloproliferative disorder(1001;0.000374)		BRCA - Breast invasive adenocarcinoma(357;6.17e-07)		GCAGAGCTGCCCTCTTTGCCC	0.498																																					p.R144S		.											.	CS-226	0			c.G432C						.						71.0	67.0	68.0					12																	56676360		2203	4300	6503	SO:0001583	missense	1431	exon6			AGCTGCCCTCTTT		CCDS8913.1	12q13.2	2012-10-02				ENSG00000062485	2.3.3.1		2422	protein-coding gene	gene with protein product		118950					Standard	NM_004077		Approved		uc001sks.1	O75390	OTTHUMG00000170344	ENST00000351328.3:c.432G>C	12.37:g.56676360C>G	ENSP00000342056:p.Arg144Ser	205	0		249	93	NM_004077	0	0	187	347	160	Q71UT9|Q7KZH0|Q96FZ8|Q9BWN8	Missense_Mutation	SNP	ENST00000351328.3	37	CCDS8913.1	.	.	.	.	.	.	.	.	.	.	C	18.63	3.665233	0.67700	.	.	ENSG00000062485	ENST00000548567;ENST00000351328;ENST00000542324;ENST00000549221;ENST00000546930;ENST00000551936;ENST00000550734;ENST00000551253;ENST00000552688;ENST00000546554;ENST00000551473;ENST00000547298;ENST00000551137;ENST00000550655;ENST00000551968;ENST00000550159	.	.	.	4.94	3.1	0.35709	Citrate synthase-like, large alpha subdomain (1);Citrate synthase-like, core (1);	0.000000	0.85682	D	0.000000	T	0.81503	0.4836	M	0.92923	3.36	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;0.989;0.989;0.989	D;P;P;P	0.80764	0.994;0.87;0.87;0.83	D	0.83595	0.0125	9	0.66056	D	0.02	-19.9874	10.9159	0.47135	0.0:0.8513:0.0:0.1487	.	78;131;99;144	B7Z1E1;B4DJV2;B3KTN4;O75390	.;.;.;CISY_HUMAN	S	78;144;131;69;78;78;78;78;108;94;78;78;78;144;116;78	.	ENSP00000342056:R144S	R	-	3	2	CS	54962627	0.744000	0.28250	1.000000	0.80357	0.998000	0.95712	-0.129000	0.10515	0.754000	0.32968	0.650000	0.86243	AGG	.		0.498	CS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408588.2	NM_004077	
BAZ2A	11176	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	56994876	56994876	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:56994876C>T	ENST00000551812.1	-	22	4500	c.4307G>A	c.(4306-4308)tGc>tAc	p.C1436Y	BAZ2A_ENST00000553222.1_5'UTR|BAZ2A_ENST00000179765.5_Missense_Mutation_p.C1404Y|BAZ2A_ENST00000549884.1_Missense_Mutation_p.C1434Y|BAZ2A_ENST00000379441.3_Missense_Mutation_p.C1406Y	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1436					chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						CCAGCCTGAGCACATCTCTGT	0.572																																					p.C1436Y		.											.	BAZ2A-22	0			c.G4307A						.						43.0	46.0	45.0					12																	56994876		2106	4229	6335	SO:0001583	missense	11176	exon22			CCTGAGCACATCT	AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"""Zinc fingers, PHD-type"""	962	protein-coding gene	gene with protein product	"""TTF-I interacting peptide 5"""	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.4307G>A	12.37:g.56994876C>T	ENSP00000446880:p.Cys1436Tyr	159	0		213	99	NM_013449	0	0	0	0	0	B3KN66|O00536|O15030|Q68DI8|Q96H26	Missense_Mutation	SNP	ENST00000551812.1	37	CCDS44924.1	.	.	.	.	.	.	.	.	.	.	C	3.551	-0.091765	0.07053	.	.	ENSG00000076108	ENST00000379441;ENST00000179765;ENST00000551812;ENST00000549884	T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13	5.64	4.72	0.59763	.	0.808768	0.11667	N	0.541242	T	0.52058	0.1711	L	0.36672	1.1	0.39184	D	0.962832	B;B;B	0.20671	0.047;0.009;0.047	B;B;B	0.18263	0.021;0.017;0.021	T	0.50432	-0.8829	10	0.49607	T	0.09	-19.9998	9.2053	0.37285	0.0:0.8142:0.0:0.1858	.	1434;1436;1409	F8VU39;Q9UIF9;Q9UIF9-2	.;BAZ2A_HUMAN;.	Y	1406;1404;1436;1434	ENSP00000368754:C1406Y;ENSP00000179765:C1404Y;ENSP00000446880:C1436Y;ENSP00000447941:C1434Y	ENSP00000179765:C1404Y	C	-	2	0	BAZ2A	55281143	0.998000	0.40836	0.990000	0.47175	0.945000	0.59286	0.948000	0.29096	1.444000	0.47605	0.655000	0.94253	TGC	.		0.572	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408561.1	NM_013449	
NACA	4666	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	57113354	57113354	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:57113354C>T	ENST00000454682.1	-	3	2241	c.1960G>A	c.(1960-1962)Gac>Aac	p.D654N	NACA_ENST00000550952.1_Missense_Mutation_p.D611N|NACA_ENST00000393891.4_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000546392.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	654	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						CCGGCAGGGTCAGCACTTTCC	0.483			T	BCL6	NHL																																p.D611N		.		Dom	yes		12	12q23-q24.1	4666	nascent-polypeptide-associated complex alpha polypeptide		L	.	NACA-254	0			c.G1831A						.						41.0	40.0	40.0					12																	57113354		1568	3582	5150	SO:0001583	missense	4666	exon4			CAGGGTCAGCACT	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.1960G>A	12.37:g.57113354C>T	ENSP00000403817:p.Asp654Asn	48	0		60	32	NM_001113203	0	0	1	1	0		Missense_Mutation	SNP	ENST00000454682.1	37		.	.	.	.	.	.	.	.	.	.	C	15.05	2.719068	0.48622	.	.	ENSG00000196531	ENST00000550920;ENST00000454682;ENST00000550952	T;T;T	0.52754	0.96;0.65;0.96	3.31	-1.25	0.09405	.	.	.	.	.	T	0.21631	0.0521	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.15122	-1.0448	9	0.37606	T	0.19	.	3.1215	0.06392	0.0:0.3465:0.2229:0.4306	.	654;611	E9PAV3;F8VU71	.;.	N	11;654;611	ENSP00000448039:D11N;ENSP00000403817:D654N;ENSP00000448035:D611N	ENSP00000403817:D654N	D	-	1	0	NACA	55399621	0.000000	0.05858	0.001000	0.08648	0.583000	0.36354	-0.105000	0.10907	0.042000	0.15717	-0.480000	0.04831	GAC	.		0.483	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594	
HSD17B6	8630	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	57167811	57167811	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:57167811G>A	ENST00000554643.1	+	3	524	c.175G>A	c.(175-177)Gcg>Acg	p.A59T	HSD17B6_ENST00000555805.1_Missense_Mutation_p.A59T|HSD17B6_ENST00000555159.1_Missense_Mutation_p.A59T|HSD17B6_ENST00000554150.1_Missense_Mutation_p.A59T|HSD17B6_ENST00000322165.1_Missense_Mutation_p.A59T			O14756	H17B6_HUMAN	hydroxysteroid (17-beta) dehydrogenase 6	59					androgen biosynthetic process (GO:0006702)|androgen catabolic process (GO:0006710)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|intracellular (GO:0005622)|membrane (GO:0016020)	catalytic activity (GO:0003824)|electron carrier activity (GO:0009055)|estradiol 17-beta-dehydrogenase activity (GO:0004303)|oxidoreductase activity (GO:0016491)|retinol dehydrogenase activity (GO:0004745)|testosterone dehydrogenase (NAD+) activity (GO:0047035)			endometrium(1)|large_intestine(2)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10					Succinic acid(DB00139)	AGTGCTGGCTGCGTGTCTGAC	0.602																																					p.A59T		.											.	HSD17B6-92	0			c.G175A						.						55.0	56.0	55.0					12																	57167811		2203	4300	6503	SO:0001583	missense	8630	exon2			CTGGCTGCGTGTC	AF016509	CCDS8925.1	12q13.3	2012-12-07	2012-12-07		ENSG00000025423	ENSG00000025423	1.1.1.62, 1.1.1.63, 1.1.1.105	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	23316	protein-coding gene	gene with protein product	"""oxidative 3-alpha-hydroxysteroid-dehydrogenase"", ""3(alpha->beta)-hydroxysteroid epimerasel"", ""retinol dehydrogenase"", ""oxidoreductase"", ""NAD+ -dependent 3 alpha-hydroxysteroid dehydrogenase"", ""3-hydroxysteroid epimerase"", ""short chain dehydrogenase/reductase family 9C, member 6"""	606623	"""hydroxysteroid (17-beta) dehydrogenase 6"", ""hydroxysteroid (17-beta) dehydrogenase 6 homolog (mouse)"""			11165032, 19027726	Standard	XM_005269207		Approved	HSE, RODH, SDR9C6	uc001smg.1	O14756	OTTHUMG00000170854	ENST00000554643.1:c.175G>A	12.37:g.57167811G>A	ENSP00000451406:p.Ala59Thr	165	0		220	102	NM_003725	0	0	0	0	0	O43275	Missense_Mutation	SNP	ENST00000554643.1	37	CCDS8925.1	.	.	.	.	.	.	.	.	.	.	G	18.72	3.684128	0.68157	.	.	ENSG00000025423	ENST00000555159;ENST00000555805;ENST00000554643;ENST00000556650;ENST00000554150;ENST00000554155;ENST00000322165	D;D;D;T;D;D;D	0.87491	-2.26;-2.26;-2.26;-0.78;-2.26;-2.26;-2.26	5.08	5.08	0.68730	NAD(P)-binding domain (1);	0.217532	0.30043	N	0.010557	T	0.75133	0.3808	N	0.05280	-0.08	0.42513	D	0.992976	B	0.33826	0.427	B	0.39617	0.305	T	0.72523	-0.4267	10	0.21540	T	0.41	.	11.2404	0.48966	0.0851:0.0:0.9149:0.0	.	59	O14756	H17B6_HUMAN	T	59	ENSP00000450698:A59T;ENSP00000451753:A59T;ENSP00000451406:A59T;ENSP00000452103:A59T;ENSP00000452273:A59T;ENSP00000451497:A59T;ENSP00000318631:A59T	ENSP00000318631:A59T	A	+	1	0	HSD17B6	55454078	0.778000	0.28640	0.966000	0.40874	0.575000	0.36095	4.192000	0.58378	2.810000	0.96702	0.655000	0.94253	GCG	.		0.602	HSD17B6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410714.1	NM_003725	
ZBTB39	9880	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	57397418	57397418	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:57397418G>A	ENST00000300101.2	-	2	1369	c.1284C>T	c.(1282-1284)atC>atT	p.I428I		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	428					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)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						GGTGGACAATGATGTTGTTCT	0.517																																					p.I428I		.											.	ZBTB39-135	0			c.C1284T						.						55.0	51.0	52.0					12																	57397418		2203	4300	6503	SO:0001819	synonymous_variant	9880	exon2			GACAATGATGTTG	AB002350	CCDS31839.1	12q13.3	2013-01-09				ENSG00000166860		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	29014	protein-coding gene	gene with protein product						9205841	Standard	NM_014830		Approved	KIAA0352, ZNF922	uc001sml.2	O15060		ENST00000300101.2:c.1284C>T	12.37:g.57397418G>A		72	0		94	47	NM_014830	0	0	2	2	0	A7MD38|Q9UD98	Silent	SNP	ENST00000300101.2	37	CCDS31839.1																																																																																			.		0.517	ZBTB39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411214.1	NM_014830	
STAT6	6778	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	57493582	57493582	+	Missense_Mutation	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:57493582A>G	ENST00000300134.3	-	15	2037	c.1712T>C	c.(1711-1713)aTc>aCc	p.I571T	STAT6_ENST00000543873.2_Missense_Mutation_p.I571T|STAT6_ENST00000538913.2_Missense_Mutation_p.I461T|STAT6_ENST00000454075.3_Missense_Mutation_p.I571T|STAT6_ENST00000556155.1_Missense_Mutation_p.I571T|STAT6_ENST00000537215.2_Missense_Mutation_p.I461T	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	571	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|mammary gland epithelial cell proliferation (GO:0033598)|mammary gland morphogenesis (GO:0060443)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|T-helper 1 cell lineage commitment (GO:0002296)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein phosphatase binding (GO:0019903)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						GGCAATGGTGATGCCCCCAAT	0.552																																					p.I571T		.											.	STAT6-849	0			c.T1712C						.						54.0	50.0	51.0					12																	57493582		2203	4300	6503	SO:0001583	missense	6778	exon15			ATGGTGATGCCCC	BC005823, BQ028928	CCDS8931.1, CCDS53804.1	12q13	2013-02-14				ENSG00000166888		"""SH2 domain containing"""	11368	protein-coding gene	gene with protein product		601512				9605853, 8085155	Standard	NM_003153		Approved	D12S1644, IL-4-STAT	uc001sna.3	P42226		ENST00000300134.3:c.1712T>C	12.37:g.57493582A>G	ENSP00000300134:p.Ile571Thr	191	0		279	136	NM_001178079	0	0	64	135	71	A8K316|B7ZA27|F5GXI9|Q5FBW5|Q71UP4	Missense_Mutation	SNP	ENST00000300134.3	37	CCDS8931.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.466209	0.84425	.	.	ENSG00000166888	ENST00000300134;ENST00000535201;ENST00000538913;ENST00000543873;ENST00000556155;ENST00000537215;ENST00000454075;ENST00000542721;ENST00000542516;ENST00000555375	D;D;D;D;D;D;D	0.97256	-4.31;-4.31;-4.31;-4.31;-4.31;-4.31;-4.31	4.92	4.92	0.64577	SH2 motif (4);	0.000000	0.85682	D	0.000000	D	0.98460	0.9487	M	0.88377	2.95	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.979	D	0.99399	1.0927	10	0.87932	D	0	-24.8103	12.5465	0.56203	1.0:0.0:0.0:0.0	.	571;571	A8K4S9;P42226	.;STAT6_HUMAN	T	571;461;461;571;571;461;571;461;571;137	ENSP00000300134:I571T;ENSP00000445409:I461T;ENSP00000438451:I571T;ENSP00000451742:I571T;ENSP00000444530:I461T;ENSP00000401486:I571T;ENSP00000450921:I137T	ENSP00000300134:I571T	I	-	2	0	STAT6	55779849	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.097000	0.94193	2.062000	0.61559	0.533000	0.62120	ATC	.		0.552	STAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412248.3	NM_003153	
LRP1	4035	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	57560791	57560791	+	Missense_Mutation	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:57560791A>G	ENST00000243077.3	+	18	3342	c.2876A>G	c.(2875-2877)gAc>gGc	p.D959G		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	959	LDL-receptor class A 5. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GATCTGGATGACGACTGTGGG	0.652																																					p.D959G		.											.	LRP1-596	0			c.A2876G						.						154.0	133.0	140.0					12																	57560791		2203	4300	6503	SO:0001583	missense	4035	exon18			TGGATGACGACTG	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.2876A>G	12.37:g.57560791A>G	ENSP00000243077:p.Asp959Gly	102	1		163	72	NM_002332	0	0	4	12	8	Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.169281	0.78339	.	.	ENSG00000123384	ENST00000243077	D	0.95821	-3.82	4.72	4.72	0.59763	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.64402	D	0.000001	D	0.97495	0.9180	M	0.83118	2.625	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.97631	1.0142	10	0.51188	T	0.08	.	13.6177	0.62120	1.0:0.0:0.0:0.0	.	959	Q07954	LRP1_HUMAN	G	959	ENSP00000243077:D959G	ENSP00000243077:D959G	D	+	2	0	LRP1	55847058	1.000000	0.71417	0.941000	0.38009	0.707000	0.40811	9.115000	0.94336	2.117000	0.64856	0.459000	0.35465	GAC	.		0.652	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332	
LRP1	4035	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	57579466	57579466	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:57579466C>T	ENST00000243077.3	+	41	7082	c.6616C>T	c.(6616-6618)Cgc>Tgc	p.R2206C		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2206					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CTACTCAGAGCGCACCATTCT	0.642																																					p.R2206C		.											.	LRP1-596	0			c.C6616T						.						84.0	66.0	72.0					12																	57579466		2203	4300	6503	SO:0001583	missense	4035	exon41			TCAGAGCGCACCA	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.6616C>T	12.37:g.57579466C>T	ENSP00000243077:p.Arg2206Cys	50	0		137	70	NM_002332	0	0	13	23	10	Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	C	33	5.219013	0.95104	.	.	ENSG00000123384	ENST00000243077	D	0.91740	-2.9	4.72	4.72	0.59763	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000001	D	0.96775	0.8947	M	0.90870	3.155	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.97755	1.0217	10	0.72032	D	0.01	.	16.448	0.83947	0.0:1.0:0.0:0.0	.	2206	Q07954	LRP1_HUMAN	C	2206	ENSP00000243077:R2206C	ENSP00000243077:R2206C	R	+	1	0	LRP1	55865733	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	3.954000	0.56708	2.172000	0.68678	0.491000	0.48974	CGC	.		0.642	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332	
USP15	9958	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	62783220	62783220	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:62783220G>A	ENST00000280377.5	+	12	1541	c.1483G>A	c.(1483-1485)Gtt>Att	p.V495I	USP15_ENST00000393654.3_Missense_Mutation_p.V470I|USP15_ENST00000353364.3_Missense_Mutation_p.V466I	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	495	USP.				BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		GTACAAAGTGGTTGTCCCCAA	0.323																																					p.V495I	Melanoma(181;615 2041 39364 49691 50001)	.											.	USP15-1084	0			c.G1483A						.						80.0	81.0	80.0					12																	62783220		2203	4300	6503	SO:0001583	missense	9958	exon12			AAAGTGGTTGTCC	AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"""Ubiquitin-specific peptidases"""	12613	protein-coding gene	gene with protein product		604731	"""ubiquitin specific protease 15"""			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.1483G>A	12.37:g.62783220G>A	ENSP00000280377:p.Val495Ile	30	0		32	15	NM_001252078	0	0	0	1	1	Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Missense_Mutation	SNP	ENST00000280377.5	37	CCDS58251.1	.	.	.	.	.	.	.	.	.	.	G	11.38	1.620588	0.28801	.	.	ENSG00000135655	ENST00000353364;ENST00000280377;ENST00000393654	T;T;T	0.19394	2.15;2.16;2.15	5.94	1.94	0.25998	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.555888	0.19307	N	0.117484	T	0.09862	0.0242	N	0.11560	0.145	0.24535	N	0.994093	B;B	0.12630	0.006;0.001	B;B	0.17722	0.019;0.007	T	0.36187	-0.9758	9	.	.	.	-5.719	8.425	0.32723	0.3891:0.0:0.6109:0.0	.	495;466	Q9Y4E8;Q9Y4E8-2	UBP15_HUMAN;.	I	466;495;470	ENSP00000258123:V466I;ENSP00000280377:V495I;ENSP00000377264:V470I	.	V	+	1	0	USP15	61069487	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	1.832000	0.39151	0.079000	0.16929	0.561000	0.74099	GTT	.		0.323	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407831.2	NM_006313	
AVPR1A	552	broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	63544037	63544037	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:63544037C>T	ENST00000299178.2	-	1	685	c.580G>A	c.(580-582)Gtg>Atg	p.V194M		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	194					activation of phospholipase C activity (GO:0007202)|blood circulation (GO:0008015)|calcium-mediated signaling (GO:0019722)|cellular response to water deprivation (GO:0042631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|grooming behavior (GO:0007625)|maternal aggressive behavior (GO:0002125)|maternal behavior (GO:0042711)|myotube differentiation (GO:0014902)|negative regulation of female receptivity (GO:0007621)|negative regulation of transmission of nerve impulse (GO:0051970)|penile erection (GO:0043084)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glutamate secretion (GO:0014049)|positive regulation of heart rate (GO:0010460)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of vasoconstriction (GO:0045907)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to corticosterone (GO:0051412)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|telencephalon development (GO:0021537)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	ACATTGTTCACCTCGATCATG	0.647																																					p.V194M		.											.	AVPR1A-946	0			c.G580A						.						59.0	59.0	59.0					12																	63544037		2203	4299	6502	SO:0001583	missense	552	exon1			TGTTCACCTCGAT	L25615	CCDS8965.1	12q14-q15	2012-08-08				ENSG00000166148		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	895	protein-coding gene	gene with protein product		600821		AVPR1		8106369	Standard	NM_000706		Approved		uc001sro.2	P37288		ENST00000299178.2:c.580G>A	12.37:g.63544037C>T	ENSP00000299178:p.Val194Met	169	2		249	109	NM_000706	0	0	2	2	0		Missense_Mutation	SNP	ENST00000299178.2	37	CCDS8965.1	.	.	.	.	.	.	.	.	.	.	C	18.96	3.734330	0.69189	.	.	ENSG00000166148	ENST00000299178	T	0.38077	1.16	5.19	5.19	0.71726	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.63558	0.2521	M	0.80616	2.505	0.47905	D	0.999549	D	0.89917	1.0	D	0.83275	0.996	T	0.66260	-0.5968	8	.	.	.	-26.7455	17.7032	0.88301	0.0:1.0:0.0:0.0	.	194	P37288	V1AR_HUMAN	M	194	ENSP00000299178:V194M	.	V	-	1	0	AVPR1A	61830304	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.462000	0.45049	2.416000	0.81992	0.455000	0.32223	GTG	.		0.647	AVPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406734.1		
WIF1	11197	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	65471560	65471560	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:65471560G>A	ENST00000286574.4	-	3	737	c.363C>T	c.(361-363)gtC>gtT	p.V121V		NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1	121	WIF. {ECO:0000255|PROSITE- ProRule:PRU00222}.				multicellular organismal development (GO:0007275)|positive regulation of fat cell differentiation (GO:0045600)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)				cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		CCAGCAGAGGGACATTGACGG	0.443			T	HMGA2	pleomorphic salivary gland adenoma																																p.V121V	Esophageal Squamous(148;1595 1816 48559 49439 49664)	.		Dom	yes		12	12q14.3	11197	WNT inhibitory factor 1		E	.	WIF1-1110	0			c.C363T						.						122.0	102.0	109.0					12																	65471560		2203	4300	6503	SO:0001819	synonymous_variant	11197	exon3			CAGAGGGACATTG	AF122922	CCDS8971.1	12q14.2	2008-04-11			ENSG00000156076	ENSG00000156076			18081	protein-coding gene	gene with protein product		605186				10201374	Standard	NM_007191		Approved		uc001ssk.3	Q9Y5W5	OTTHUMG00000168832	ENST00000286574.4:c.363C>T	12.37:g.65471560G>A		151	1		174	73	NM_007191	0	0	0	0	0	Q6UXI1|Q8WVG4	Silent	SNP	ENST00000286574.4	37	CCDS8971.1																																																																																			.		0.443	WIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401258.2		
MSRB3	253827	broad.mit.edu;bcgsc.ca	37	12	65857056	65857056	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:65857056G>A	ENST00000355192.3	+	6	659	c.533G>A	c.(532-534)gGc>gAc	p.G178D	MSRB3_ENST00000308259.5_Missense_Mutation_p.G171D|MSRB3_ENST00000535664.1_Missense_Mutation_p.G171D	NM_198080.3	NP_932346.1	Q8IXL7	MSRB3_HUMAN	methionine sulfoxide reductase B3	178					protein repair (GO:0030091)|response to oxidative stress (GO:0006979)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	peptide-methionine (R)-S-oxide reductase activity (GO:0033743)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.131)		GCCGAGGGAGGCAGTGGGGTC	0.502																																					p.G178D		.											.	MSRB3-515	0			c.G533A						.						64.0	59.0	61.0					12																	65857056		2203	4300	6503	SO:0001583	missense	253827	exon6			AGGGAGGCAGTGG	BX640871	CCDS8973.1, CCDS31853.1	12q14.3	2011-11-29			ENSG00000174099	ENSG00000174099			27375	protein-coding gene	gene with protein product		613719	"""deafness, autosomal recessive 74"""	DFNB74		21185009	Standard	NM_198080		Approved	FLJ36866, DKFZp686C1178	uc021qzy.1	Q8IXL7	OTTHUMG00000168866	ENST00000355192.3:c.533G>A	12.37:g.65857056G>A	ENSP00000347324:p.Gly178Asp	95	2		117	56	NM_198080	0	0	1	1	0	B4DR19|B7ZAQ0|Q6UXS2	Missense_Mutation	SNP	ENST00000355192.3	37	CCDS8973.1	.	.	.	.	.	.	.	.	.	.	G	12.40	1.928073	0.34002	.	.	ENSG00000174099	ENST00000355192;ENST00000308259;ENST00000535664	T;T;T	0.63744	-0.06;-0.04;-0.04	5.76	-4.33	0.03677	.	0.709452	0.13970	N	0.350226	T	0.33323	0.0859	N	0.12182	0.205	0.09310	N	0.999996	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.19289	-1.0310	9	.	.	.	-7.3344	6.974	0.24664	0.4408:0.2032:0.356:0.0	.	178;171	Q8IXL7;Q8IXL7-2	MSRB3_HUMAN;.	D	178;171;171	ENSP00000347324:G178D;ENSP00000312274:G171D;ENSP00000441650:G171D	.	G	+	2	0	MSRB3	64143323	0.008000	0.16893	0.000000	0.03702	0.021000	0.10359	0.276000	0.18716	-0.632000	0.05553	-1.829000	0.00594	GGC	.		0.502	MSRB3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000401421.1	NM_198080	
GRIP1	23426	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	12	66788074	66788074	+	Frame_Shift_Del	DEL	C	C	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:66788074delC	ENST00000398016.3	-	16	1955	c.1887delG	c.(1885-1887)gggfs	p.G629fs	GRIP1_ENST00000542021.1_5'Flank|GRIP1_ENST00000286445.7_Frame_Shift_Del_p.G681fs|GRIP1_ENST00000359742.4_Frame_Shift_Del_p.G681fs	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0					intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		TGCCAAGGGGCCCCCCGTAGC	0.408																																					p.G629fs		.											.	GRIP1-494	0			c.1887delG						.						97.0	94.0	95.0					12																	66788074		1818	4079	5897	SO:0001589	frameshift_variant	23426	exon16			AAGGGGCCCCCCG	AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.1887delG	12.37:g.66788074delC	ENSP00000381098:p.Gly629fs	62	0		74	29	NM_001178074	0	0	0	0	0	B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Frame_Shift_Del	DEL	ENST00000398016.3	37	CCDS41807.1																																																																																			.		0.408	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401975.2		
CAND1	55832	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	67696266	67696266	+	Silent	SNP	G	G	A	rs144692083		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:67696266G>A	ENST00000545606.1	+	8	1601	c.1164G>A	c.(1162-1164)gaG>gaA	p.E388E		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	388					cell differentiation (GO:0030154)|negative regulation of catalytic activity (GO:0043086)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|protein ubiquitination (GO:0016567)|SCF complex assembly (GO:0010265)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		AGCGTGAAGAGAATGTAAAGG	0.438																																					p.E388E		.											.	CAND1-516	0			c.G1164A						.						202.0	178.0	186.0					12																	67696266		2203	4300	6503	SO:0001819	synonymous_variant	55832	exon8			TGAAGAGAATGTA		CCDS8977.1	12q14	2008-02-05			ENSG00000111530	ENSG00000111530			30688	protein-coding gene	gene with protein product	"""TBP interacting protein"""	607727				10048485, 8954946	Standard	NM_018448		Approved	TIP120A, DKFZp434M1414, KIAA0829, TIP120	uc001stn.2	Q86VP6	OTTHUMG00000169060	ENST00000545606.1:c.1164G>A	12.37:g.67696266G>A		137	0		136	60	NM_018448	0	0	41	74	33	B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Silent	SNP	ENST00000545606.1	37	CCDS8977.1																																																																																			G|1.000;C|0.000		0.438	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402105.1	NM_018448	
DYRK2	8445	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	68051174	68051174	+	Missense_Mutation	SNP	T	T	A	rs539367942		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:68051174T>A	ENST00000344096.3	+	3	900	c.487T>A	c.(487-489)Tac>Aac	p.Y163N	RP11-335O4.3_ENST00000425371.2_RNA|DYRK2_ENST00000393555.3_Missense_Mutation_p.Y90N	NM_006482.2	NP_006473.2	Q92630	DYRK2_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2	163					cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of NFAT protein import into nucleus (GO:0051534)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of glycogen biosynthetic process (GO:0045725)|protein phosphorylation (GO:0006468)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|ubiquitin binding (GO:0043130)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30			Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)		AATGAAGCAATACATGCAAAA	0.483																																					p.Y163N		.											.	DYRK2-861	0			c.T487A						.						54.0	51.0	52.0					12																	68051174		2203	4300	6503	SO:0001583	missense	8445	exon3			AAGCAATACATGC	Y09216	CCDS8978.1, CCDS8979.1	12q15	2008-07-03				ENSG00000127334			3093	protein-coding gene	gene with protein product		603496				9748265	Standard	NM_003583		Approved		uc001str.4	Q92630		ENST00000344096.3:c.487T>A	12.37:g.68051174T>A	ENSP00000342105:p.Tyr163Asn	63	0		82	40	NM_006482	0	0	7	15	8	B2R9V9|Q9BRB5	Missense_Mutation	SNP	ENST00000344096.3	37	CCDS8978.1	.	.	.	.	.	.	.	.	.	.	T	16.82	3.228771	0.58777	.	.	ENSG00000127334	ENST00000543747;ENST00000344096;ENST00000393555;ENST00000319833;ENST00000542503	T;T;T;T;T	0.60424	0.19;0.19;0.19;0.19;0.19	5.3	5.3	0.74995	.	0.053572	0.85682	D	0.000000	T	0.66005	0.2746	L	0.59967	1.855	0.80722	D	1	D	0.55800	0.973	P	0.54140	0.743	T	0.66212	-0.5980	9	.	.	.	.	15.5607	0.76244	0.0:0.0:0.0:1.0	.	163	Q92630	DYRK2_HUMAN	N	90;163;90;90;141	ENSP00000440839:Y90N;ENSP00000342105:Y163N;ENSP00000377186:Y90N;ENSP00000324733:Y90N;ENSP00000443314:Y141N	.	Y	+	1	0	DYRK2	66337441	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	8.040000	0.89188	2.152000	0.67230	0.260000	0.18958	TAC	.		0.483	DYRK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402218.1		
FRS2	10818	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	69968573	69968573	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:69968573G>A	ENST00000550389.1	+	7	1611	c.1365G>A	c.(1363-1365)acG>acA	p.T455T	FRS2_ENST00000397997.2_Silent_p.T455T|FRS2_ENST00000299293.2_Silent_p.T455T|FRS2_ENST00000549921.1_Silent_p.T455T	NM_001278353.1|NM_001278357.1	NP_001265282.1|NP_001265286.1	Q8WU20	FRS2_HUMAN	fibroblast growth factor receptor substrate 2	455					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|anterior/posterior axis specification, embryo (GO:0008595)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|gastrulation with mouth forming second (GO:0001702)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|lens fiber cell development (GO:0070307)|neuroblast proliferation (GO:0007405)|neurotrophin TRK receptor signaling pathway (GO:0048011)|optic placode formation involved in camera-type eye formation (GO:0046619)|organ induction (GO:0001759)|phosphatidylinositol-mediated signaling (GO:0048015)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|regulation of apoptotic process (GO:0042981)|regulation of epithelial cell proliferation (GO:0050678)|regulation of ERK1 and ERK2 cascade (GO:0070372)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	fibroblast growth factor receptor binding (GO:0005104)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatase activator activity (GO:0019211)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			CTCCAAAAACGCCTACAACTC	0.483																																					p.T455T		.											.	FRS2-658	0			c.G1365A						.						93.0	97.0	95.0					12																	69968573		2058	4210	6268	SO:0001819	synonymous_variant	10818	exon10			AAAAACGCCTACA	AF036717	CCDS41809.1	12q15	2008-02-05				ENSG00000166225			16971	protein-coding gene	gene with protein product		607743				8761293, 9660748	Standard	NM_001278351		Approved	SNT-1, FRS2alpha, SNT1, FRS2A	uc001suz.3	Q8WU20		ENST00000550389.1:c.1365G>A	12.37:g.69968573G>A		146	1		180	71	NM_001042555	1	0	9	28	18	B0LPF2|B2R684|O43558|Q7LDQ6	Silent	SNP	ENST00000550389.1	37	CCDS41809.1																																																																																			.		0.483	FRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403760.1	NM_006654	
NAV3	89795	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	78334110	78334110	+	Missense_Mutation	SNP	C	C	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:78334110C>G	ENST00000397909.2	+	2	428	c.255C>G	c.(253-255)gaC>gaG	p.D85E	NAV3_ENST00000266692.7_Missense_Mutation_p.D85E|NAV3_ENST00000536525.2_Missense_Mutation_p.D85E|NAV3_ENST00000228327.6_Missense_Mutation_p.D85E			Q8IVL0	NAV3_HUMAN	neuron navigator 3	85	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.					membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TTTACACTGACTGGGCCAACC	0.443										HNSCC(70;0.22)																											p.D85E		.											.	NAV3-279	0			c.C255G						.						157.0	161.0	160.0					12																	78334110		1922	4164	6086	SO:0001583	missense	89795	exon2			CACTGACTGGGCC	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.255C>G	12.37:g.78334110C>G	ENSP00000381007:p.Asp85Glu	87	0		118	56	NM_014903	0	0	0	0	0	Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37		.	.	.	.	.	.	.	.	.	.	C	17.16	3.318738	0.60524	.	.	ENSG00000067798	ENST00000549464;ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T;T	0.60548	0.18;0.18;0.18;0.18;0.18	5.6	4.71	0.59529	Calponin homology domain (5);	0.000000	0.40222	U	0.001157	T	0.75517	0.3860	M	0.77820	2.39	0.80722	D	1	P;D	0.64830	0.949;0.994	D;D	0.72982	0.969;0.979	T	0.79300	-0.1860	10	0.87932	D	0	-20.5628	14.2343	0.65916	0.0:0.9284:0.0:0.0716	.	85;85	Q8IVL0;Q8IVL0-2	NAV3_HUMAN;.	E	85	ENSP00000446628:D85E;ENSP00000446132:D85E;ENSP00000381007:D85E;ENSP00000228327:D85E;ENSP00000266692:D85E	ENSP00000228327:D85E	D	+	3	2	NAV3	76858241	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.536000	0.45693	1.362000	0.46000	0.637000	0.83480	GAC	.		0.443	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383	
OTOGL	283310	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	80658922	80658922	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:80658922C>T	ENST00000547103.1	+	19	2135	c.2129C>T	c.(2128-2130)gCc>gTc	p.A710V	OTOGL_ENST00000458043.2_Missense_Mutation_p.A710V			Q3ZCN5	OTOGL_HUMAN	otogelin-like	710					L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						AATGCTCTTGCCCACTATGCC	0.498																																					p.A710V		.											.	.	0			c.C2129T						.						106.0	106.0	106.0					12																	80658922		2048	4221	6269	SO:0001583	missense	283310	exon19			CTCTTGCCCACTA	AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"""chromosome 12 open reading frame 64"""	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.2129C>T	12.37:g.80658922C>T	ENSP00000447211:p.Ala710Val	95	0		122	48	NM_173591	0	0	0	0	0	F8W0C3|Q495U8|Q8N8G5|Q8NC28	Missense_Mutation	SNP	ENST00000547103.1	37		.	.	.	.	.	.	.	.	.	.	C	23.7	4.447161	0.84101	.	.	ENSG00000165899	ENST00000547103;ENST00000458043	T;T	0.79454	-1.27;-1.27	5.96	5.03	0.67393	.	.	.	.	.	D	0.91640	0.7358	H	0.94183	3.505	0.49299	D	0.99977	.	.	.	.	.	.	D	0.93372	0.6736	7	0.72032	D	0.01	.	18.8375	0.92168	0.0:0.875:0.125:0.0	.	.	.	.	V	710	ENSP00000447211:A710V;ENSP00000400895:A710V	ENSP00000400895:A710V	A	+	2	0	OTOGL	79183053	1.000000	0.71417	0.998000	0.56505	0.704000	0.40688	5.787000	0.69013	2.824000	0.97209	0.655000	0.94253	GCC	.		0.498	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000407438.1	NM_173591	
OTOGL	283310	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	80665446	80665446	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:80665446G>A	ENST00000547103.1	+	23	2516	c.2510G>A	c.(2509-2511)gGa>gAa	p.G837E	OTOGL_ENST00000458043.2_Missense_Mutation_p.G837E			Q3ZCN5	OTOGL_HUMAN	otogelin-like	837					L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TGCCCAGAGGGAAAAGAGTAT	0.418																																					p.G837E		.											.	.	0			c.G2510A						.						82.0	81.0	82.0					12																	80665446		1905	4108	6013	SO:0001583	missense	283310	exon23			CAGAGGGAAAAGA	AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"""chromosome 12 open reading frame 64"""	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.2510G>A	12.37:g.80665446G>A	ENSP00000447211:p.Gly837Glu	141	0		179	83	NM_173591	0	0	0	0	0	F8W0C3|Q495U8|Q8N8G5|Q8NC28	Missense_Mutation	SNP	ENST00000547103.1	37		.	.	.	.	.	.	.	.	.	.	G	25.0	4.592380	0.86953	.	.	ENSG00000165899	ENST00000547103;ENST00000458043	T;T	0.31510	1.49;1.49	5.35	5.35	0.76521	.	.	.	.	.	T	0.55178	0.1904	M	0.74881	2.28	0.80722	D	1	.	.	.	.	.	.	T	0.56703	-0.7935	7	0.59425	D	0.04	.	19.4259	0.94741	0.0:0.0:1.0:0.0	.	.	.	.	E	837	ENSP00000447211:G837E;ENSP00000400895:G837E	ENSP00000400895:G837E	G	+	2	0	OTOGL	79189577	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	8.860000	0.92272	2.662000	0.90505	0.655000	0.94253	GGA	.		0.418	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000407438.1	NM_173591	
METTL25	84190	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	82780603	82780603	+	Missense_Mutation	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:82780603T>C	ENST00000248306.3	+	2	350	c.281T>C	c.(280-282)aTa>aCa	p.I94T	METTL25_ENST00000547357.1_3'UTR	NM_032230.2	NP_115606.2	Q8N6Q8	MET25_HUMAN	methyltransferase like 25	94							methyltransferase activity (GO:0008168)										TTTCCCAAAATATTTTGTGAA	0.328																																					p.I94T		.											.	.	0			c.T281C						.						76.0	79.0	78.0					12																	82780603		2203	4299	6502	SO:0001583	missense	84190	exon2			CCAAAATATTTTG	BC029120	CCDS9024.1	12q21.31	2012-08-13	2012-08-13	2012-08-13	ENSG00000127720	ENSG00000127720			26228	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 26"""	C12orf26			Standard	NM_032230		Approved	FLJ22789	uc001szq.3	Q8N6Q8	OTTHUMG00000170252	ENST00000248306.3:c.281T>C	12.37:g.82780603T>C	ENSP00000248306:p.Ile94Thr	21	0		41	14	NM_032230	0	0	5	7	2	Q9H5Y3	Missense_Mutation	SNP	ENST00000248306.3	37	CCDS9024.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.11|18.11	3.550629|3.550629	0.65311|0.65311	.|.	.|.	ENSG00000127720|ENSG00000127720	ENST00000248306;ENST00000548200|ENST00000550058	T|.	0.32023|.	1.47|.	6.14|6.14	5.0|5.0	0.66597|0.66597	.|.	0.296144|.	0.42964|.	D|.	0.000639|.	T|T	0.57242|0.57242	0.2040|0.2040	M|M	0.74881|0.74881	2.28|2.28	0.25078|0.25078	N|N	0.990946|0.990946	D|.	0.63880|.	0.993|.	P|.	0.58520|.	0.84|.	T|T	0.52238|0.52238	-0.8602|-0.8602	10|5	0.13853|.	T|.	0.58|.	-6.8932|-6.8932	10.0905|10.0905	0.42445|0.42445	0.0:0.0761:0.0:0.9239|0.0:0.0761:0.0:0.9239	.|.	94|.	Q8N6Q8|.	CL026_HUMAN|.	T|H	94|53	ENSP00000248306:I94T|.	ENSP00000248306:I94T|.	I|Y	+|+	2|1	0|0	C12orf26|C12orf26	81304734|81304734	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.945000|0.945000	0.59286|0.59286	2.147000|2.147000	0.42226|0.42226	1.160000|1.160000	0.42584|0.42584	0.529000|0.529000	0.55759|0.55759	ATA|TAT	.		0.328	METTL25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408192.1	NM_032230	
NUDT4	11163	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	12	93793069	93793069	+	Missense_Mutation	SNP	A	A	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:93793069A>T	ENST00000415493.2	+	5	884	c.457A>T	c.(457-459)Aat>Tat	p.N153Y	NUDT4_ENST00000547014.1_Missense_Mutation_p.N102Y|NUDT4_ENST00000337179.5_Missense_Mutation_p.N154Y|NUDT4_ENST00000549992.1_Missense_Mutation_p.N101Y|NUDT4_ENST00000548662.1_Missense_Mutation_p.N101Y	NM_019094.4	NP_061967.3	Q9NZJ9	NUDT4_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 4	153					calcium-mediated signaling (GO:0019722)|cyclic nucleotide metabolic process (GO:0009187)|cyclic-nucleotide-mediated signaling (GO:0019935)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|regulation of RNA export from nucleus (GO:0046831)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)|snoRNA binding (GO:0030515)			endometrium(2)|kidney(1)|lung(2)	5						AGCCAATGGAAATTCTACAGT	0.448																																					p.N154Y		.											.	NUDT4-90	0			c.A460T						.						158.0	164.0	162.0					12																	93793069		2203	4300	6503	SO:0001583	missense	11163	exon5			AATGGAAATTCTA	AF067803	CCDS9044.1, CCDS44952.1, CCDS73504.1	12q21	2008-09-04			ENSG00000173598	ENSG00000173598		"""Nudix motif containing"""	8051	protein-coding gene	gene with protein product	"""diphosphoinositol polyphosphate phosphohydrolase type 2"""	609229				10777568, 11376937	Standard	XM_005268595		Approved	DIPP2, HDCMB47P, KIAA0487, DIPP2alpha, DIPP2beta	uc001tcm.3	Q9NZJ9	OTTHUMG00000170155	ENST00000415493.2:c.457A>T	12.37:g.93793069A>T	ENSP00000406612:p.Asn153Tyr	230	0		313	38	NM_199040	0	0	90	90	0	B7Z916|Q4AEJ6|Q53EZ2|Q68DD7|Q9NPC5|Q9NS30|Q9NZK0|Q9NZK1	Missense_Mutation	SNP	ENST00000415493.2	37	CCDS44952.1	.	.	.	.	.	.	.	.	.	.	A	16.71	3.198877	0.58126	.	.	ENSG00000173598	ENST00000337179;ENST00000415493;ENST00000549992;ENST00000548662;ENST00000547014;ENST00000546925	T;T	0.33438	1.42;1.41	5.53	5.53	0.82687	NUDIX hydrolase domain (1);	0.000000	0.85682	D	0.000000	T	0.40322	0.1112	N	0.24115	0.695	0.80722	D	1	P;P	0.45283	0.855;0.774	P;P	0.59056	0.851;0.713	T	0.35076	-0.9803	10	0.87932	D	0	-17.6889	15.9523	0.79850	1.0:0.0:0.0:0.0	.	154;153	Q9NZJ9-2;Q9NZJ9	.;NUDT4_HUMAN	Y	154;153;101;101;102;101	ENSP00000338352:N154Y;ENSP00000406612:N153Y	ENSP00000338352:N154Y	N	+	1	0	NUDT4	92317200	1.000000	0.71417	0.858000	0.33744	0.086000	0.17979	8.387000	0.90167	2.226000	0.72624	0.533000	0.62120	AAT	.		0.448	NUDT4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407702.1	NM_019094	
CEP83	51134	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	94725525	94725525	+	Missense_Mutation	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:94725525T>C	ENST00000397809.5	-	14	2207	c.1658A>G	c.(1657-1659)tAc>tGc	p.Y553C	CCDC41_ENST00000397807.2_Missense_Mutation_p.Y520C|CCDC41_ENST00000339839.5_Missense_Mutation_p.Y553C	NM_016122.2	NP_057206.2	Q9Y592	CEP83_HUMAN		545					cilium assembly (GO:0042384)|protein localization to centrosome (GO:0071539)|vesicle docking (GO:0048278)	centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|Golgi apparatus (GO:0005794)				breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						AGCTTGATTGTACTTTTCTTC	0.438																																					p.Y553C		.											.	CCDC41-90	0			c.A1658G						.						294.0	265.0	274.0					12																	94725525		1908	4121	6029	SO:0001583	missense	51134	exon14			TGATTGTACTTTT																												ENST00000397809.5:c.1658A>G	12.37:g.94725525T>C	ENSP00000380911:p.Tyr553Cys	71	0		84	26	NM_016122	0	0	3	7	4	A4FVB1|Q08AP1	Missense_Mutation	SNP	ENST00000397809.5	37	CCDS41820.1	.	.	.	.	.	.	.	.	.	.	T	10.38	1.334028	0.24253	.	.	ENSG00000173588	ENST00000552632;ENST00000339839;ENST00000397809;ENST00000397807	T;T;T;T	0.55760	1.81;1.81;1.81;0.5	5.79	3.43	0.39272	.	.	.	.	.	T	0.66177	0.2763	L	0.59436	1.845	0.38782	D	0.954784	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.64871	-0.6305	9	0.46703	T	0.11	-0.006	11.5269	0.50584	0.0:0.136:0.0:0.864	.	520;545	Q9Y592-2;Q9Y592	.;CCD41_HUMAN	C	17;553;553;520	ENSP00000447094:Y17C;ENSP00000344655:Y553C;ENSP00000380911:Y553C;ENSP00000380909:Y520C	ENSP00000344655:Y553C	Y	-	2	0	CCDC41	93249656	1.000000	0.71417	0.992000	0.48379	0.006000	0.05464	3.231000	0.51294	0.124000	0.18369	-1.139000	0.01908	TAC	.		0.438	CCDC41-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408147.3		
NTN4	59277	broad.mit.edu	37	12	96077421	96077421	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:96077421C>T	ENST00000343702.4	-	6	1695	c.1247G>A	c.(1246-1248)aGc>aAc	p.S416N	NTN4_ENST00000553059.1_Missense_Mutation_p.S416N|NTN4_ENST00000538383.1_Missense_Mutation_p.S379N|NTN4_ENST00000344911.4_Missense_Mutation_p.S379N	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN	netrin 4	416	Laminin EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|extracellular matrix organization (GO:0030198)|neuron remodeling (GO:0016322)|regulation of branching involved in salivary gland morphogenesis by extracellular matrix-epithelial cell signaling (GO:0060668)	basement membrane (GO:0005604)|plasma membrane (GO:0005886)				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						GTCACCATTGCTGGGGTCGCA	0.572																																					p.S416N		.											.	NTN4-92	0			c.G1247A						.						94.0	69.0	77.0					12																	96077421		2203	4300	6503	SO:0001583	missense	59277	exon6			CCATTGCTGGGGT	AF119916	CCDS9054.1	12q22	2013-03-01			ENSG00000074527	ENSG00000074527		"""Netrins"""	13658	protein-coding gene	gene with protein product	"""beta-netrin"", ""Netrin-4"""	610401				11038171	Standard	NM_021229		Approved		uc001tei.3	Q9HB63	OTTHUMG00000170290	ENST00000343702.4:c.1247G>A	12.37:g.96077421C>T	ENSP00000340998:p.Ser416Asn	130	0		185	6	NM_021229	0	0	29	29	0	B2RNC2|Q658K9|Q7L3F1|Q7L9D6|Q7Z5B6|Q9BZP1|Q9NT44|Q9P133	Missense_Mutation	SNP	ENST00000343702.4	37	CCDS9054.1	.	.	.	.	.	.	.	.	.	.	C	11.28	1.592450	0.28357	.	.	ENSG00000074527	ENST00000343702;ENST00000344911;ENST00000538383;ENST00000553059	T;T;T;T	0.62105	0.05;0.05;0.05;0.05	5.74	4.82	0.62117	EGF-like, laminin (3);	0.257343	0.46758	D	0.000274	T	0.46946	0.1419	N	0.20445	0.575	0.34249	D	0.678506	B;B	0.18610	0.029;0.02	B;B	0.23018	0.025;0.043	T	0.51371	-0.8714	10	0.18710	T	0.47	.	15.19	0.73035	0.0:0.7366:0.2634:0.0	.	416;416	Q9HB63-2;Q9HB63	.;NET4_HUMAN	N	416;379;379;416	ENSP00000340998:S416N;ENSP00000339436:S379N;ENSP00000444432:S379N;ENSP00000447292:S416N	ENSP00000340998:S416N	S	-	2	0	NTN4	94601552	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	0.788000	0.26872	2.723000	0.93209	0.591000	0.81541	AGC	.		0.572	NTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408372.1	NM_021229	
AMDHD1	144193	hgsc.bcm.edu	37	12	96337183	96337183	+	Missense_Mutation	SNP	A	A	G	rs7955450	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:96337183A>G	ENST00000266736.2	+	1	113	c.7A>G	c.(7-9)Agc>Ggc	p.S3G	CCDC38_ENST00000546386.1_5'Flank|CCDC38_ENST00000549752.1_5'Flank|CCDC38_ENST00000344280.3_5'Flank	NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	3			S -> G (in dbSNP:rs7955450). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15221005, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:16541075}.		cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	imidazolonepropionase activity (GO:0050480)|metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						CGACATGGCAAGCGGCCACAG	0.736													G|||	3598	0.71845	0.702	0.6888	5008	,	,		10480	0.9554		0.6004	False		,,,				2504	0.6391				p.S3G		.											.	AMDHD1-90	0			c.A7G						.						2.0	3.0	3.0					12																	96337183		1177	2379	3556	SO:0001583	missense	144193	exon1			ATGGCAAGCGGCC	AB075878	CCDS9057.1	12q23.1	2006-02-02				ENSG00000139344			28577	protein-coding gene	gene with protein product							Standard	NM_152435		Approved	MGC35366	uc001tel.2	Q96NU7	OTTHUMG00000170353	ENST00000266736.2:c.7A>G	12.37:g.96337183A>G	ENSP00000266736:p.Ser3Gly	0	0		13	8	NM_152435	0	0	0	4	4	A8K463|Q68CI8	Missense_Mutation	SNP	ENST00000266736.2	37	CCDS9057.1	1561	0.7147435897435898	348	0.7073170731707317	233	0.643646408839779	540	0.9440559440559441	440	0.5804749340369393	G	5.553	0.286982	0.10513	.	.	ENSG00000139344	ENST00000266736	T	0.30714	1.52	4.39	-8.69	0.00855	.	0.734274	0.13810	N	0.361153	T	0.00012	0.0000	N	0.01576	-0.805	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.28427	-1.0044	9	0.21540	T	0.41	.	1.8829	0.03231	0.44:0.0902:0.1959:0.2739	rs7955450;rs17856824;rs58541549;rs7955450	3	Q96NU7	HUTI_HUMAN	G	3	ENSP00000266736:S3G	ENSP00000266736:S3G	S	+	1	0	AMDHD1	94861314	0.000000	0.05858	0.000000	0.03702	0.134000	0.20937	-0.592000	0.05747	-2.316000	0.00645	-1.140000	0.01884	AGC	A|0.273;G|0.727		0.736	AMDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408640.1	NM_152435	
AMDHD1	144193	hgsc.bcm.edu	37	12	96337225	96337225	+	Silent	SNP	C	C	T	rs1436121	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:96337225C>T	ENST00000266736.2	+	1	155	c.49C>T	c.(49-51)Ctg>Ttg	p.L17L	CCDC38_ENST00000546386.1_5'Flank|CCDC38_ENST00000549752.1_5'Flank|CCDC38_ENST00000344280.3_5'Flank	NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	17					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	imidazolonepropionase activity (GO:0050480)|metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						GCAAGTGGTGCTGGTGTGCGC	0.741													C|||	1276	0.254792	0.09	0.1297	5008	,	,		11076	0.4732		0.2445	False		,,,				2504	0.3517				p.L17L		.											.	AMDHD1-90	0			c.C49T						.	C		259,2703		9,241,1231	3.0	4.0	4.0		49	1.4	1.0	12	dbSNP_88	4	983,4553		75,833,1860	no	coding-synonymous	AMDHD1	NM_152435.2		84,1074,3091	TT,TC,CC		17.7565,8.7441,14.6152		17/427	96337225	1242,7256	1481	2768	4249	SO:0001819	synonymous_variant	144193	exon1			GTGGTGCTGGTGT	AB075878	CCDS9057.1	12q23.1	2006-02-02				ENSG00000139344			28577	protein-coding gene	gene with protein product							Standard	NM_152435		Approved	MGC35366	uc001tel.2	Q96NU7	OTTHUMG00000170353	ENST00000266736.2:c.49C>T	12.37:g.96337225C>T		0	0		19	8	NM_152435	0	0	2	4	2	A8K463|Q68CI8	Silent	SNP	ENST00000266736.2	37	CCDS9057.1																																																																																			C|0.752;T|0.248		0.741	AMDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408640.1	NM_152435	
APAF1	317	broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	99061321	99061321	+	Nonsense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:99061321C>T	ENST00000551964.1	+	10	2129	c.1393C>T	c.(1393-1395)Cag>Tag	p.Q465*	APAF1_ENST00000550527.1_Nonsense_Mutation_p.Q454*|APAF1_ENST00000549007.1_Nonsense_Mutation_p.Q465*|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000359972.2_Nonsense_Mutation_p.Q454*|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000339433.3_Nonsense_Mutation_p.Q465*|APAF1_ENST00000357310.1_Nonsense_Mutation_p.Q465*|APAF1_ENST00000547045.1_Nonsense_Mutation_p.Q465*	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	465					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway (GO:0097193)|nervous system development (GO:0007399)|neural tube closure (GO:0001843)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|response to G1 DNA damage checkpoint signaling (GO:0072432)	apoptosome (GO:0043293)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	CACTCAGTTTCAGAGATATCA	0.413																																					p.Q465X		.											.	APAF1-229	0			c.C1393T						.						141.0	132.0	135.0					12																	99061321		2203	4300	6503	SO:0001587	stop_gained	317	exon10			CAGTTTCAGAGAT	AF013263	CCDS9069.1, CCDS9070.1, CCDS9071.1, CCDS55862.1, CCDS55863.1	12q23	2013-01-10	2006-10-23			ENSG00000120868		"""WD repeat domain containing"""	576	protein-coding gene	gene with protein product		602233	"""apoptotic protease activating factor"", ""apoptotic peptidase activating factor"""			9267021, 10702682	Standard	NM_181861		Approved	CED4, APAF-1	uc001tfz.3	O14727	OTTHUMG00000170214	ENST00000551964.1:c.1393C>T	12.37:g.99061321C>T	ENSP00000448165:p.Gln465*	71	1		88	45	NM_181868	0	0	2	2	0	B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Nonsense_Mutation	SNP	ENST00000551964.1	37	CCDS9069.1	.	.	.	.	.	.	.	.	.	.	C	41	9.001259	0.99031	.	.	ENSG00000120868	ENST00000551964;ENST00000359972;ENST00000357310;ENST00000339433;ENST00000550527;ENST00000547045;ENST00000549007	.	.	.	5.33	5.33	0.75918	.	0.105364	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.1473	12.2306	0.54486	0.2884:0.7116:0.0:0.0	.	.	.	.	X	465;454;465;465;454;465;465	.	ENSP00000341830:Q465X	Q	+	1	0	APAF1	97585452	1.000000	0.71417	1.000000	0.80357	0.467000	0.32768	4.319000	0.59197	2.498000	0.84270	0.460000	0.39030	CAG	.		0.413	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408006.1	NM_181861.1	
CHST11	50515	broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	105150884	105150884	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:105150884G>A	ENST00000303694.5	+	3	801	c.362G>A	c.(361-363)tGc>tAc	p.C121Y	CHST11_ENST00000549260.1_Missense_Mutation_p.C116Y	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 11	121					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondrocyte development (GO:0002063)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|developmental growth (GO:0048589)|embryonic digit morphogenesis (GO:0042733)|embryonic viscerocranium morphogenesis (GO:0048703)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|polysaccharide localization (GO:0033037)|post-anal tail morphogenesis (GO:0036342)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	chondroitin 4-sulfotransferase activity (GO:0047756)|N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						CTCATCTACTGCTACGTGCCC	0.632																																					p.C121Y		.											.	CHST11-90	0			c.G362A						.						67.0	58.0	61.0					12																	105150884		2203	4300	6503	SO:0001583	missense	50515	exon3			TCTACTGCTACGT	AB042326	CCDS9099.1, CCDS55878.1	12q23.3	2008-02-05				ENSG00000171310	2.8.2.5	"""Sulfotransferases, membrane-bound"""	17422	protein-coding gene	gene with protein product		610128				10781601	Standard	NM_018413		Approved	C4ST1, C4St-1, C4ST, HSA269537	uc001tkz.3	Q9NPF2	OTTHUMG00000169803	ENST00000303694.5:c.362G>A	12.37:g.105150884G>A	ENSP00000305725:p.Cys121Tyr	176	1		255	103	NM_018413	0	1	17	37	19	A8K4F8|Q9NXY6|Q9NY36	Missense_Mutation	SNP	ENST00000303694.5	37	CCDS9099.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.321391	0.81580	.	.	ENSG00000171310	ENST00000549260;ENST00000303694;ENST00000549016	T;T;T	0.78364	-1.17;-1.17;-1.17	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.92397	0.7587	H	0.95850	3.73	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94415	0.7635	10	0.87932	D	0	-8.2034	19.4315	0.94772	0.0:0.0:1.0:0.0	.	116;121	Q9NPF2-2;Q9NPF2	.;CHSTB_HUMAN	Y	116;121;81	ENSP00000450004:C116Y;ENSP00000305725:C121Y;ENSP00000449095:C81Y	ENSP00000305725:C121Y	C	+	2	0	CHST11	103675014	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.600000	0.87896	0.655000	0.94253	TGC	.		0.632	CHST11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000405960.2	NM_018413	
UBE3B	89910	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	109959270	109959270	+	Missense_Mutation	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:109959270T>C	ENST00000342494.3	+	21	2873	c.2278T>C	c.(2278-2280)Tac>Cac	p.Y760H	UBE3B_ENST00000434735.2_Missense_Mutation_p.Y760H	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	760	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						TGAGAGGCTGTACCCCTCACC	0.527																																					p.Y760H		.											.	UBE3B-660	0			c.T2278C						.						97.0	84.0	89.0					12																	109959270		2203	4300	6503	SO:0001583	missense	89910	exon21			AGGCTGTACCCCT	BC032301	CCDS9129.1, CCDS58277.1	12q24.12	2004-03-02			ENSG00000151148	ENSG00000151148			13478	protein-coding gene	gene with protein product		608047					Standard	NM_130466		Approved		uc001toq.4	Q7Z3V4	OTTHUMG00000169254	ENST00000342494.3:c.2278T>C	12.37:g.109959270T>C	ENSP00000340596:p.Tyr760His	145	0		133	64	NM_130466	0	0	14	32	18	A5D8Z3|Q05BX9|Q659F7|Q7Z7Q1|Q9BXZ4	Missense_Mutation	SNP	ENST00000342494.3	37	CCDS9129.1	.	.	.	.	.	.	.	.	.	.	T	29.3	4.997770	0.93227	.	.	ENSG00000151148	ENST00000434735;ENST00000539599;ENST00000342494;ENST00000539584;ENST00000538070	T;T;T	0.58797	0.31;0.31;0.31	5.18	5.18	0.71444	HECT (4);	0.000000	0.85682	D	0.000000	T	0.74489	0.3723	M	0.71036	2.16	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77872	-0.2426	10	0.87932	D	0	-25.1058	14.3635	0.66789	0.0:0.0:0.0:1.0	.	760	Q7Z3V4	UBE3B_HUMAN	H	760;760;760;187;55	ENSP00000391529:Y760H;ENSP00000443131:Y760H;ENSP00000340596:Y760H	ENSP00000340596:Y760H	Y	+	1	0	UBE3B	108443653	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.478000	0.81082	2.168000	0.68352	0.533000	0.62120	TAC	.		0.527	UBE3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403119.1	NM_183415	
MMAB	326625	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	109998890	109998890	+	Missense_Mutation	SNP	G	G	A	rs368584846		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:109998890G>A	ENST00000545712.2	-	7	932	c.539C>T	c.(538-540)tCg>tTg	p.S180L	MMAB_ENST00000540016.1_Missense_Mutation_p.S128L|MMAB_ENST00000266839.5_Missense_Mutation_p.S89L	NM_052845.3	NP_443077.1	Q96EY8	MMAB_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblB type	180					cobalamin biosynthetic process (GO:0009236)|cobalamin metabolic process (GO:0009235)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|cob(I)yrinic acid a,c-diamide adenosyltransferase activity (GO:0008817)			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ATGCAGCGCCGAGCTGATCTT	0.642																																					p.S180L		.											.	MMAB-90	0			c.C539T	GRCh37	CM061123	MMAB	M		.	G	LEU/SER	1,4405	2.1+/-5.4	0,1,2202	53.0	52.0	52.0		539	3.0	0.1	12		52	0,8600		0,0,4300	no	missense	MMAB	NM_052845.3	145	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	180/251	109998890	1,13005	2203	4300	6503	SO:0001583	missense	326625	exon7			AGCGCCGAGCTGA	AF550404	CCDS9131.1	12q24	2014-07-18	2005-07-11		ENSG00000139428	ENSG00000139428			19331	protein-coding gene	gene with protein product	"""ATP:cob(I)alamin adenosyltransferase"", ""cilia and flagella associated protein 23"""	607568	"""methylmalonic aciduria (cobalamin deficiency) type B"""			12471062, 12514191	Standard	NM_052845		Approved	cblB, CFAP23	uc001tou.3	Q96EY8	OTTHUMG00000169255	ENST00000545712.2:c.539C>T	12.37:g.109998890G>A	ENSP00000445920:p.Ser180Leu	92	0		117	57	NM_052845	0	0	24	39	15	C5HU05|Q9BSH0	Missense_Mutation	SNP	ENST00000545712.2	37	CCDS9131.1	.	.	.	.	.	.	.	.	.	.	G	14.96	2.690284	0.48097	2.27E-4	0.0	ENSG00000139428	ENST00000545712;ENST00000266839	D;D	0.95412	-2.77;-3.7	4.91	3.05	0.35203	Adenosylcobalamin biosynthesis, ATP:cob(I)alamin adenosyltransferase, PduO-type, N-terminal (2);Adenosylcobalamin biosynthesis, ATP:cob(I)alamin adenosyltransferase-like (2);Adenosylcobalamin biosynthesis, ATP:cob(I)alamin adenosyltransferase, EutT/PduO type (1);	0.410282	0.25349	N	0.031317	D	0.96827	0.8964	M	0.81802	2.56	0.27682	N	0.946404	D;D;D	0.65815	0.987;0.991;0.995	P;P;P	0.59171	0.853;0.75;0.75	D	0.92739	0.6206	10	0.72032	D	0.01	-4.7551	12.893	0.58082	0.0:0.3128:0.6872:0.0	.	89;180;180	B4DHP4;B2R6J3;Q96EY8	.;.;MMAB_HUMAN	L	180;89	ENSP00000445920:S180L;ENSP00000266839:S89L	ENSP00000266839:S89L	S	-	2	0	MMAB	108483273	0.938000	0.31826	0.054000	0.19295	0.113000	0.19764	5.580000	0.67464	0.638000	0.30545	-0.181000	0.13052	TCG	.		0.642	MMAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403128.2		
TRPV4	59341	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	12	110221440	110221440	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:110221440C>T	ENST00000418703.2	-	15	2696	c.2602G>A	c.(2602-2604)Gac>Aac	p.D868N	TRPV4_ENST00000537083.1_Missense_Mutation_p.D808N|TRPV4_ENST00000261740.2_Missense_Mutation_p.D868N|TRPV4_ENST00000536838.1_Missense_Mutation_p.D834N|TRPV4_ENST00000346520.2_Missense_Mutation_p.D808N|TRPV4_ENST00000541794.1_Missense_Mutation_p.D821N|TRPV4_ENST00000544971.1_Missense_Mutation_p.D761N|TRPV4_ENST00000392719.2_Missense_Mutation_p.D821N	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	868					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						AGCGGGGCGTCATCAGTCCTC	0.642																																					p.D868N		.											.	TRPV4-94	0			c.G2602A						.						57.0	54.0	55.0					12																	110221440		2203	4300	6503	SO:0001583	missense	59341	exon16			GGGCGTCATCAGT	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.2602G>A	12.37:g.110221440C>T	ENSP00000406191:p.Asp868Asn	70	0		77	7	NM_021625	0	0	1	1	0	B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Missense_Mutation	SNP	ENST00000418703.2	37	CCDS9134.1	.	.	.	.	.	.	.	.	.	.	C	14.94	2.686274	0.47991	.	.	ENSG00000111199	ENST00000418703;ENST00000261740;ENST00000392719;ENST00000346520;ENST00000544971;ENST00000537083;ENST00000541794;ENST00000536838	D;D;D;D;D;D;D;D	0.90133	-2.62;-2.62;-2.37;-2.59;-2.39;-2.59;-2.37;-2.61	5.33	3.5	0.40072	.	0.297069	0.27627	N	0.018531	D	0.85944	0.5815	N	0.22421	0.69	0.09310	N	1	B;B;B;P;P	0.52061	0.119;0.421;0.096;0.95;0.557	B;B;B;P;B	0.48334	0.05;0.118;0.036;0.574;0.172	T	0.78695	-0.2104	10	0.72032	D	0.01	-3.0755	10.06	0.42268	0.0:0.8318:0.0:0.1682	.	808;868;761;821;834	Q9HBA0-2;Q9HBA0;Q9HBA0-6;Q9HBA0-4;Q9HBA0-5	.;TRPV4_HUMAN;.;.;.	N	868;868;821;808;761;808;821;834	ENSP00000406191:D868N;ENSP00000261740:D868N;ENSP00000376480:D821N;ENSP00000319003:D808N;ENSP00000443611:D761N;ENSP00000442738:D808N;ENSP00000442167:D821N;ENSP00000444336:D834N	ENSP00000261740:D868N	D	-	1	0	TRPV4	108705823	0.008000	0.16893	0.006000	0.13384	0.783000	0.44284	1.272000	0.33109	0.618000	0.30179	0.511000	0.50034	GAC	.		0.642	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403270.1	NM_021625	
FAM216A	29902	hgsc.bcm.edu	37	12	110906720	110906720	+	Missense_Mutation	SNP	G	G	C	rs368560327	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:110906720G>C	ENST00000377673.5	+	1	552	c.40G>C	c.(40-42)Ggc>Cgc	p.G14R	GPN3_ENST00000537466.2_5'Flank|GPN3_ENST00000543199.1_5'Flank|GPN3_ENST00000552180.1_5'UTR|GPN3_ENST00000228827.3_5'Flank	NM_013300.2	NP_037432.2	Q8WUB2	F216A_HUMAN	family with sequence similarity 216, member A	14																	TCGCGGTCTCGGCGCCGCGGA	0.736													G|||	8	0.00159744	0.0	0.0	5008	,	,		13151	0.0		0.001	False		,,,				2504	0.0072				p.G14R		.											.	.	0			c.G40C						.	G	ARG/GLY	1,3699		0,1,1849	3.0	3.0	3.0		40	2.6	0.0	12		3	5,7205		0,5,3600	no	missense	C12orf24	NM_013300.2	125	0,6,5449	CC,CG,GG		0.0693,0.027,0.055	probably-damaging	14/274	110906720	6,10904	1850	3605	5455	SO:0001583	missense	29902	exon1			GGTCTCGGCGCCG	U79274	CCDS31899.1	12q24.11	2012-02-07	2012-02-07	2012-02-07	ENSG00000204856	ENSG00000204856			30180	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 24"""	C12orf24			Standard	NM_013300		Approved	HSU79274	uc001tqu.4	Q8WUB2	OTTHUMG00000169526	ENST00000377673.5:c.40G>C	12.37:g.110906720G>C	ENSP00000366901:p.Gly14Arg	1	0		30	16	NM_013300	0	0	2	3	1	A6NH30|Q99776	Missense_Mutation	SNP	ENST00000377673.5	37	CCDS31899.1	.	.	.	.	.	.	.	.	.	.	G	13.58	2.279608	0.40294	2.7E-4	6.93E-4	ENSG00000204856	ENST00000377673;ENST00000538285	T	0.52983	0.64	3.56	2.64	0.31445	.	.	.	.	.	T	0.55893	0.1949	L	0.44542	1.39	0.23386	N	0.997788	D;D	0.67145	0.996;0.996	D;D	0.65233	0.933;0.933	T	0.42224	-0.9464	9	0.66056	D	0.02	-1.0555	9.4976	0.38997	0.0:0.0:0.7881:0.2119	.	14;14	F5GZE4;Q8WUB2	.;CL024_HUMAN	R	14	ENSP00000366901:G14R	ENSP00000366901:G14R	G	+	1	0	C12orf24	109391103	0.060000	0.20803	0.019000	0.16419	0.071000	0.16799	1.147000	0.31602	0.796000	0.33947	0.462000	0.41574	GGC	.		0.736	FAM216A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404616.1	NM_013300	
ACAD10	80724	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	112171864	112171864	+	Missense_Mutation	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:112171864T>C	ENST00000313698.4	+	11	1687	c.1532T>C	c.(1531-1533)gTg>gCg	p.V511A	ACAD10_ENST00000549590.1_Missense_Mutation_p.V511A|ACAD10_ENST00000392636.2_Missense_Mutation_p.V113A|ACAD10_ENST00000455480.2_Missense_Mutation_p.V542A|ACAD10_ENST00000413681.3_3'UTR	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	511				V -> M (in Ref. 3; AL832043). {ECO:0000305}.		mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						AGTTTTCCCGTGCTGAGAGGT	0.562																																					p.V542A		.											.	ACAD10-92	0			c.T1625C						.						85.0	71.0	76.0					12																	112171864		2203	4300	6503	SO:0001583	missense	80724	exon12			TTCCCGTGCTGAG	AY323912	CCDS31903.1, CCDS44973.1	12q24.12	2012-10-02	2010-04-30		ENSG00000111271	ENSG00000111271			21597	protein-coding gene	gene with protein product		611181	"""acyl-Coenzyme A dehydrogenase family, member 10"""			15560374	Standard	NM_025247		Approved	MGC5601	uc009zvx.3	Q6JQN1	OTTHUMG00000169602	ENST00000313698.4:c.1532T>C	12.37:g.112171864T>C	ENSP00000325137:p.Val511Ala	69	0		98	36	NM_001136538	0	0	0	0	0	G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Missense_Mutation	SNP	ENST00000313698.4	37	CCDS31903.1	.	.	.	.	.	.	.	.	.	.	T	11.40	1.626318	0.28978	.	.	ENSG00000111271	ENST00000392636;ENST00000413681;ENST00000549590;ENST00000455480;ENST00000313698	D;T;D;D	0.96073	-3.9;3.35;-3.48;-3.48	5.13	5.13	0.70059	Protein kinase-like domain (1);	1.642380	0.03212	N	0.176309	D	0.90570	0.7044	N	0.16567	0.415	0.09310	N	1	B;B;B	0.22604	0.003;0.002;0.072	B;B;B	0.21708	0.007;0.01;0.036	T	0.78214	-0.2291	10	0.07325	T	0.83	.	10.2034	0.43099	0.0:0.0805:0.0:0.9195	.	542;511;511	G3XAJ0;Q6JQN1;Q6JQN1-2	.;ACD10_HUMAN;.	A	113;511;511;542;511	ENSP00000376411:V113A;ENSP00000446959:V511A;ENSP00000389813:V542A;ENSP00000325137:V511A	ENSP00000325137:V511A	V	+	2	0	ACAD10	110656247	0.356000	0.24930	0.032000	0.17829	0.153000	0.21895	3.045000	0.49838	1.938000	0.56188	0.533000	0.62120	GTG	.		0.562	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368307.1	NM_025247	
DTX1	1840	bcgsc.ca	37	12	113496054	113496054	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:113496054G>A	ENST00000257600.3	+	1	560	c.57G>A	c.(55-57)ccG>ccA	p.P19P		NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	19	WWE 1. {ECO:0000255|PROSITE- ProRule:PRU00248}.				cell surface receptor signaling pathway (GO:0007166)|glial cell differentiation (GO:0010001)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of T cell differentiation (GO:0045581)|Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)|regulation of Notch signaling pathway (GO:0008593)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Notch binding (GO:0005112)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						GCTTCCCACCGCAGAACGTGG	0.667																																					p.P19P		.											.	DTX1-659	0			c.G57A						.						66.0	55.0	59.0					12																	113496054		2202	4299	6501	SO:0001819	synonymous_variant	1840	exon1			CCCACCGCAGAAC	AF053700	CCDS9164.1	12q24	2014-01-28	2014-01-28			ENSG00000135144			3060	protein-coding gene	gene with protein product		602582	"""deltex homolog 1 (Drosophila)"""			9590294, 12670957	Standard	NM_004416		Approved	hDx-1	uc001tuk.1	Q86Y01	OTTHUMG00000169610	ENST00000257600.3:c.57G>A	12.37:g.113496054G>A		208	3		324	142	NM_004416	0	0	0	0	0	O60630|Q9BS04	Silent	SNP	ENST00000257600.3	37	CCDS9164.1																																																																																			.		0.667	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405045.2		
PLBD2	196463	broad.mit.edu	37	12	113812652	113812652	+	Silent	SNP	C	C	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:113812652C>A	ENST00000280800.3	+	5	730	c.699C>A	c.(697-699)acC>acA	p.T233T	PLBD2_ENST00000545182.2_Silent_p.T233T	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2	233					lipid catabolic process (GO:0016042)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						TGAACAAGACCAAGATCAAAC	0.597																																					p.T233T		.											.	PLBD2-68	0			c.C699A						.						91.0	80.0	84.0					12																	113812652		2203	4300	6503	SO:0001819	synonymous_variant	196463	exon5			CAAGACCAAGATC	BC030618	CCDS9168.1, CCDS53834.1	12q24.13	2013-10-11				ENSG00000151176			27283	protein-coding gene	gene with protein product	"""PLB homolog 2 (Dictyostelium)"", ""mannose-6-phosphate protein associated protein p76"""					17105447, 15193148, 19019078	Standard	NM_001159727		Approved	p76	uc001tve.2	Q8NHP8	OTTHUMG00000169567	ENST00000280800.3:c.699C>A	12.37:g.113812652C>A		57	0		85	6	NM_173542	0	0	512	513	1	F5H5E2	Silent	SNP	ENST00000280800.3	37	CCDS9168.1																																																																																			.		0.597	PLBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404835.1	NM_173542	
RNFT2	84900	broad.mit.edu;bcgsc.ca	37	12	117273791	117273791	+	Silent	SNP	C	C	T	rs192187826		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:117273791C>T	ENST00000257575.4	+	9	1292	c.1059C>T	c.(1057-1059)ggC>ggT	p.G353G	RNFT2_ENST00000407967.3_Silent_p.G353G|RNFT2_ENST00000392549.2_Silent_p.G353G|RNFT2_ENST00000319176.7_Intron			Q96EX2	RNFT2_HUMAN	ring finger protein, transmembrane 2	353						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.034)		GACGTGTGGGCGGAGTTAGGA	0.567													C|||	1	0.000199681	0.0	0.0	5008	,	,		17626	0.001		0.0	False		,,,				2504	0.0				p.G353G		.											.	.	0			c.C1059T						.						157.0	123.0	134.0					12																	117273791		2203	4300	6503	SO:0001819	synonymous_variant	84900	exon9			TGTGGGCGGAGTT	AK027533	CCDS9180.2, CCDS44987.1	12q24.22	2013-01-09	2008-02-26	2008-02-26	ENSG00000135119	ENSG00000135119		"""RING-type (C3HC4) zinc fingers"""	25905	protein-coding gene	gene with protein product			"""transmembrane protein 118"""	TMEM118		12477932	Standard	NM_032814		Approved	FLJ14627	uc009zwn.3	Q96EX2	OTTHUMG00000150882	ENST00000257575.4:c.1059C>T	12.37:g.117273791C>T		116	0		165	8	NM_001109903	0	0	2	2	0	E9PAM7|Q96SU5	Silent	SNP	ENST00000257575.4	37	CCDS44987.1																																																																																			C|0.999;T|0.000		0.567	RNFT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320417.1	NM_032814	
SRRM4	84530	broad.mit.edu;bcgsc.ca;mdanderson.org	37	12	119554810	119554810	+	Missense_Mutation	SNP	G	G	A	rs189389386		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:119554810G>A	ENST00000267260.4	+	4	822	c.434G>A	c.(433-435)cGc>cAc	p.R145H	RP11-364C11.2_ENST00000537730.1_RNA	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	145	Lys-rich.|Ser-rich.				cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						CACAAGCGACGCAGGTATTGT	0.478													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19092	0.0		0.0	False		,,,				2504	0.0				p.R145H		.											.	SRRM4-2	0			c.G434A						.						65.0	61.0	62.0					12																	119554810		1862	4093	5955	SO:0001583	missense	84530	exon4			AGCGACGCAGGTA	AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"""neural-specific SR-related protein of 100 kDa"""	613103	"""KIAA1853"""	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.434G>A	12.37:g.119554810G>A	ENSP00000267260:p.Arg145His	41	1		54	26	NM_194286	0	0	0	0	0	A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Missense_Mutation	SNP	ENST00000267260.4	37	CCDS44994.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	13.63	2.295298	0.40594	.	.	ENSG00000139767	ENST00000267260	T	0.20598	2.06	5.46	0.983	0.19767	.	0.460997	0.23241	N	0.050348	T	0.04497	0.0123	N	0.00368	-1.59	0.23030	N	0.998402	B	0.02656	0.0	B	0.04013	0.001	T	0.40850	-0.9541	10	0.24483	T	0.36	-5.1774	7.6701	0.28453	0.7251:0.0:0.2749:0.0	.	145	A7MD48	SRRM4_HUMAN	H	145	ENSP00000267260:R145H	ENSP00000267260:R145H	R	+	2	0	SRRM4	118039193	0.993000	0.37304	0.998000	0.56505	0.975000	0.68041	0.139000	0.16036	0.001000	0.14605	-0.140000	0.14226	CGC	G|0.999;A|0.001		0.478	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401640.2	NM_194286	
KDM2B	84678	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	121868110	121868110	+	Missense_Mutation	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:121868110A>G	ENST00000377071.4	-	23	4064	c.3992T>C	c.(3991-3993)cTc>cCc	p.L1331P	KDM2B_ENST00000377069.4_Intron|KDM2B_ENST00000536437.1_3'UTR|RNF34_ENST00000392464.2_Missense_Mutation_p.E446G|KDM2B_ENST00000542973.1_Missense_Mutation_p.L699P	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	1331					embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						TTTTTGCAGGAGTTTTTCTTC	0.453																																					p.L1331P		.											.	KDM2B-638	0			c.T3992C						.						130.0	120.0	123.0					12																	121868110		1861	4108	5969	SO:0001583	missense	84678	exon23			TGCAGGAGTTTTT	AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13610	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1B"""	609078	"""F-box and leucine-rich repeat protein 10"""	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.3992T>C	12.37:g.121868110A>G	ENSP00000366271:p.Leu1331Pro	55	0		57	27	NM_032590	0	0	9	26	17	A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Missense_Mutation	SNP	ENST00000377071.4	37	CCDS41850.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.7|20.7	4.037337|4.037337	0.75617|0.75617	.|.	.|.	ENSG00000170633|ENSG00000089094	ENST00000392464|ENST00000397480;ENST00000542973;ENST00000377071;ENST00000540043	T|T;T	0.37058|0.48201	1.22|1.09;0.82	5.49|5.49	5.49|5.49	0.81192|0.81192	.|.	.|0.000000	.|0.47093	.|D	.|0.000252	T|T	0.69088|0.69088	0.3072|0.3072	M|M	0.73962|0.73962	2.25|2.25	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|0.994;1.0;0.988	.|D;D;D	.|0.87578	.|0.974;0.998;0.962	T|T	0.73408|0.73408	-0.3992|-0.3992	6|10	.|0.87932	.|D	.|0	-26.2733|-26.2733	15.5829|15.5829	0.76459|0.76459	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|771;1331;774	.|B7ZB05;Q8NHM5;B4DSN4	.|.;KDM2B_HUMAN;.	G|P	446|1321;699;1331;774	ENSP00000376257:E446G|ENSP00000437821:L699P;ENSP00000366271:L1331P	.|ENSP00000366271:L1331P	E|L	+|-	2|2	0|0	RNF34|KDM2B	120352493|120352493	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	9.281000|9.281000	0.95811|0.95811	2.087000|2.087000	0.62958|0.62958	0.533000|0.533000	0.62120|0.62120	GAG|CTC	.		0.453	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	NM_032590	
SETD1B	23067	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	122248666	122248666	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:122248666G>A	ENST00000604567.1	+	6	1883	c.1815G>A	c.(1813-1815)ggG>ggA	p.G605G	SETD1B_ENST00000542440.1_Silent_p.G605G|SETD1B_ENST00000267197.5_Silent_p.G605G			Q9UPS6	SET1B_HUMAN	SET domain containing 1B	605	Pro-rich.				histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone-lysine N-methyltransferase activity (GO:0018024)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|endometrium(6)|kidney(2)|prostate(2)	11						ACCCTGCTGGGCTTCTGAGCC	0.647																																					p.G605G		.											.	SETD1B-86	0			c.G1815A						.						48.0	52.0	51.0					12																	122248666		692	1591	2283	SO:0001819	synonymous_variant	23067	exon5			TGCTGGGCTTCTG	AB028999	CCDS53838.1	12q24.31	2013-02-12			ENSG00000139718	ENSG00000139718		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29187	protein-coding gene	gene with protein product		611055				10470851, 17355966	Standard	NM_015048		Approved	KIAA1076, Set1B, KMT2G	uc001ubi.3	Q9UPS6	OTTHUMG00000169080	ENST00000604567.1:c.1815G>A	12.37:g.122248666G>A		106	0		157	76	NM_015048	0	0	3	4	1	F6MFW1	Silent	SNP	ENST00000604567.1	37																																																																																				.		0.647	SETD1B-002	PUTATIVE	non_canonical_U12|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000468264.1	XM_037523	
VPS33A	65082	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	12	122717402	122717402	+	Silent	SNP	G	G	A	rs368453753		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:122717402G>A	ENST00000267199.4	-	12	1666	c.1554C>T	c.(1552-1554)ctC>ctT	p.L518L	RP11-512M8.5_ENST00000535844.1_Silent_p.L479L	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33 homolog A (S. cerevisiae)	518					lysosome localization (GO:0032418)|melanosome localization (GO:0032400)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of developmental pigmentation (GO:0048070)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		GGGGCCCTGGGAGGATGCGGA	0.587																																					p.L518L		.											.	VPS33A-91	0			c.C1554T						.						47.0	44.0	45.0					12																	122717402		2203	4300	6503	SO:0001819	synonymous_variant	65082	exon12			CCCTGGGAGGATG	AK026048	CCDS9231.1	12q24.31	2008-06-23	2006-04-04		ENSG00000139719	ENSG00000139719			18179	protein-coding gene	gene with protein product		610034	"""vacuolar protein sorting 33A (yeast)"""			11250079	Standard	NM_022916		Approved		uc001ucd.3	Q96AX1	OTTHUMG00000168920	ENST00000267199.4:c.1554C>T	12.37:g.122717402G>A		126	0		161	80	NM_022916	0	0	30	62	32	Q547V4|Q9H5Q0	Silent	SNP	ENST00000267199.4	37	CCDS9231.1																																																																																			.		0.587	VPS33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401607.2		
ZCCHC8	55596	broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	122958256	122958256	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:122958256C>T	ENST00000336229.4	-	14	2042	c.1912G>A	c.(1912-1914)Ggg>Agg	p.G638R	ZCCHC8_ENST00000536306.1_Missense_Mutation_p.G400R|ZCCHC8_ENST00000538116.1_Missense_Mutation_p.G249R|ZCCHC8_ENST00000543897.1_Missense_Mutation_p.G400R	NM_017612.3	NP_060082.2	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	638					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		TGGCTGCCCCCATTGCTGATG	0.473																																					p.G638R		.											.	ZCCHC8-90	0			c.G1912A						.						158.0	158.0	158.0					12																	122958256		1947	4146	6093	SO:0001583	missense	55596	exon14			TGCCCCCATTGCT	BC017704		12q24.31	2014-04-14				ENSG00000033030		"""Zinc fingers, CCHC domain containing"""	25265	protein-coding gene	gene with protein product						12477932	Standard	XM_005253581		Approved	DKFZp434E2220	uc001ucn.3	Q6NZY4		ENST00000336229.4:c.1912G>A	12.37:g.122958256C>T	ENSP00000337313:p.Gly638Arg	108	1		104	42	NM_017612	0	0	6	9	3	Q7L2P6|Q8N2K5|Q96SK7|Q9NSS2|Q9NSS3	Missense_Mutation	SNP	ENST00000336229.4	37		.	.	.	.	.	.	.	.	.	.	C	25.7	4.665679	0.88251	.	.	ENSG00000033030	ENST00000536306;ENST00000543897;ENST00000336229;ENST00000538116	T;T;T;T	0.47528	0.88;0.88;0.86;0.84	5.88	5.88	0.94601	.	0.422095	0.27613	N	0.018590	T	0.66177	0.2763	M	0.69823	2.125	0.41120	D	0.985807	D	0.65815	0.995	P	0.60345	0.873	T	0.65352	-0.6189	10	0.48119	T	0.1	-22.8091	18.4227	0.90597	0.0:1.0:0.0:0.0	.	638	Q6NZY4	ZCHC8_HUMAN	R	400;400;638;249	ENSP00000441423:G400R;ENSP00000438993:G400R;ENSP00000337313:G638R;ENSP00000440028:G249R	ENSP00000337313:G638R	G	-	1	0	ZCCHC8	121524209	0.223000	0.23663	0.063000	0.19743	0.056000	0.15407	2.335000	0.43929	2.788000	0.95919	0.650000	0.86243	GGG	.		0.473	ZCCHC8-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017612	
MPHOSPH9	10198	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	123679054	123679054	+	Missense_Mutation	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:123679054T>C	ENST00000606320.1	-	13	2326	c.2120A>G	c.(2119-2121)gAc>gGc	p.D707G	MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.D555G|MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.D677G|MPHOSPH9_ENST00000302349.5_Missense_Mutation_p.D555G			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	707						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		GATGGTATTGTCTTTTTCTTT	0.353																																					p.D555G		.											.	MPHOSPH9-514	0			c.A1664G						.						184.0	155.0	165.0					12																	123679054		2203	4300	6503	SO:0001583	missense	10198	exon9			GTATTGTCTTTTT	X98258	CCDS9243.1, CCDS9243.2	12q24	2008-03-03			ENSG00000051825	ENSG00000051825			7215	protein-coding gene	gene with protein product		605501				8885239	Standard	NM_022782		Approved	MPP9	uc001uel.3	Q99550	OTTHUMG00000168849	ENST00000606320.1:c.2120A>G	12.37:g.123679054T>C	ENSP00000475489:p.Asp707Gly	82	0		84	33	NM_022782	0	0	2	8	6	A1L486|A6NEE2|B3KR87|Q9H976|U3KQ28	Missense_Mutation	SNP	ENST00000606320.1	37		.	.	.	.	.	.	.	.	.	.	T	23.0	4.363074	0.82353	.	.	ENSG00000051825	ENST00000302349;ENST00000541076	T;T	0.78595	-1.19;-1.19	5.52	5.52	0.82312	.	0.130678	0.49305	D	0.000149	D	0.86740	0.6005	M	0.66939	2.045	0.58432	D	0.999992	D	0.89917	1.0	D	0.79784	0.993	D	0.88082	0.2807	10	0.72032	D	0.01	-20.2099	15.6564	0.77140	0.0:0.0:0.0:1.0	.	555	Q99550	MPP9_HUMAN	G	555	ENSP00000303597:D555G;ENSP00000445859:D555G	ENSP00000303597:D555G	D	-	2	0	MPHOSPH9	122245007	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.374000	0.73132	2.100000	0.63781	0.533000	0.62120	GAC	.		0.353	MPHOSPH9-030	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000471390.2		
DNAH10	196385	broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	124409717	124409717	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:124409717G>A	ENST00000409039.3	+	67	11558	c.11533G>A	c.(11533-11535)Gtg>Atg	p.V3845M	CCDC92_ENST00000544798.1_Intron|RP11-380L11.4_ENST00000602952.1_RNA	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3845	AAA 6. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CTATCGGGCCGTGACTGACTA	0.502																																					p.V3845M		.											.	DNAH10-95	0			c.G11533A						.						216.0	207.0	210.0					12																	124409717		2001	4176	6177	SO:0001583	missense	196385	exon67			CGGGCCGTGACTG	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.11533G>A	12.37:g.124409717G>A	ENSP00000386770:p.Val3845Met	284	2		382	164	NM_207437	0	0	1	1	0	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	19.97	3.925402	0.73213	.	.	ENSG00000197653	ENST00000409039	T	0.09723	2.95	5.45	5.45	0.79879	Dynein heavy chain (1);	0.000000	0.64402	D	0.000001	T	0.17746	0.0426	L	0.41573	1.285	0.80722	D	1	D	0.62365	0.991	P	0.51229	0.663	T	0.01140	-1.1439	10	0.29301	T	0.29	.	19.2839	0.94063	0.0:0.0:1.0:0.0	.	3845	Q8IVF4	DYH10_HUMAN	M	3845	ENSP00000386770:V3845M	ENSP00000386770:V3845M	V	+	1	0	DNAH10	122975670	1.000000	0.71417	0.957000	0.39632	0.939000	0.58152	6.512000	0.73737	2.534000	0.85438	0.561000	0.74099	GTG	.		0.502	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3		
NCOR2	9612	hgsc.bcm.edu	37	12	124856730	124856730	+	Missense_Mutation	SNP	G	G	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:124856730G>T	ENST00000405201.1	-	20	2645	c.2645C>A	c.(2644-2646)gCc>gAc	p.A882D	NCOR2_ENST00000404621.1_Missense_Mutation_p.A864D|NCOR2_ENST00000429285.2_Missense_Mutation_p.A864D|NCOR2_ENST00000404121.2_Missense_Mutation_p.A435D|NCOR2_ENST00000397355.1_Missense_Mutation_p.A865D|NCOR2_ENST00000356219.3_Missense_Mutation_p.A882D			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	882					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GGCCTCAGCGGCCTCCGCGTC	0.721																																					p.A882D		.											.	NCOR2-229	0			c.C2645A						.						37.0	44.0	42.0					12																	124856730		2017	4158	6175	SO:0001583	missense	9612	exon22			TCAGCGGCCTCCG	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.2645C>A	12.37:g.124856730G>T	ENSP00000384018:p.Ala882Asp	2	0		71	41	NM_006312	0	0	33	68	35	O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	ENST00000405201.1	37	CCDS41858.2	.	.	.	.	.	.	.	.	.	.	G	11.31	1.601757	0.28534	.	.	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000429285;ENST00000458234	T;T;T;T;T;T;T	0.28069	1.63;1.63;1.63;1.63;1.63;1.63;1.63	4.92	-4.81	0.03180	.	1.697510	0.03334	N	0.193817	T	0.26846	0.0657	L	0.36672	1.1	0.09310	N	1	B;B;B	0.14012	0.005;0.005;0.009	B;B;B	0.21360	0.015;0.015;0.034	T	0.38693	-0.9649	10	0.46703	T	0.11	0.276	12.8963	0.58101	0.0:0.6009:0.157:0.2422	.	864;865;882	C9J0Q5;C9J239;C9JFD3	.;.;.	D	882;864;882;865;881;435;864;882	ENSP00000384018:A882D;ENSP00000384202:A864D;ENSP00000348551:A882D;ENSP00000380513:A865D;ENSP00000385618:A435D;ENSP00000400281:A864D;ENSP00000402808:A882D	ENSP00000348551:A882D	A	-	2	0	NCOR2	123422683	0.107000	0.21998	0.000000	0.03702	0.051000	0.14879	2.117000	0.41939	-0.881000	0.03992	0.561000	0.74099	GCC	.		0.721	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312	
AACS	65985	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	12	125550233	125550233	+	Missense_Mutation	SNP	G	G	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:125550233G>C	ENST00000316519.6	+	1	309	c.103G>C	c.(103-105)Gct>Cct	p.A35P	AACS_ENST00000261686.6_Missense_Mutation_p.A35P	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	35					adipose tissue development (GO:0060612)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cellular response to testosterone stimulus (GO:0071394)|fatty acid metabolic process (GO:0006631)|liver development (GO:0001889)|positive regulation of insulin secretion (GO:0032024)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to purine-containing compound (GO:0014074)|response to starvation (GO:0042594)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)	acetoacetate-CoA ligase activity (GO:0030729)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		CTTCCGGGCGGCTGTGGGCGC	0.716																																					p.A35P		.											.	AACS-92	0			c.G103C						.						13.0	13.0	13.0					12																	125550233		1958	3870	5828	SO:0001583	missense	65985	exon1			CGGGCGGCTGTGG	AK022451	CCDS9263.1	12q24.31	2010-09-29			ENSG00000081760	ENSG00000081760	6.2.1.16	"""Acyl-CoA synthetase family"""	21298	protein-coding gene	gene with protein product	"""acyl-CoA synthetase family member 1"""	614364				12623130, 17762044	Standard	NM_023928		Approved	FLJ12389, SUR-5, ACSF1	uc001uhc.3	Q86V21	OTTHUMG00000168550	ENST00000316519.6:c.103G>C	12.37:g.125550233G>C	ENSP00000324842:p.Ala35Pro	68	0		145	44	NM_023928	0	0	9	18	9	Q49AB9|Q49AC3|Q658Q8|Q8IWD2|Q8NEW5|Q9BSJ9|Q9H829|Q9HA19	Missense_Mutation	SNP	ENST00000316519.6	37	CCDS9263.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.362262	0.61403	.	.	ENSG00000081760	ENST00000316519;ENST00000536752;ENST00000261686	T;T;T	0.10192	2.9;2.9;2.9	3.91	3.91	0.45181	.	0.450874	0.23581	N	0.046650	T	0.06234	0.0161	N	0.08118	0	0.29589	N	0.848594	P;P	0.49783	0.928;0.694	B;B	0.44315	0.446;0.26	T	0.11251	-1.0595	10	0.35671	T	0.21	.	8.7837	0.34807	0.1083:0.0:0.8917:0.0	.	35;35	Q86V21-2;Q86V21	.;AACS_HUMAN	P	35	ENSP00000324842:A35P;ENSP00000442691:A35P;ENSP00000261686:A35P	ENSP00000261686:A35P	A	+	1	0	AACS	124116186	0.999000	0.42202	0.963000	0.40424	0.902000	0.53008	3.016000	0.49607	2.003000	0.58678	0.491000	0.48974	GCT	.		0.716	AACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400202.1	NM_023928	
RIMBP2	23504	hgsc.bcm.edu	37	12	130921471	130921471	+	Silent	SNP	T	T	C	rs2292663	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:130921471T>C	ENST00000261655.4	-	10	2134	c.1971A>G	c.(1969-1971)ccA>ccG	p.P657P	RIMBP2_ENST00000536002.1_Silent_p.P565P|RIMBP2_ENST00000535703.1_Silent_p.P565P	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	657	Pro-rich.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CCTGTGGCTGTGGCAGGATGC	0.736													C|||	734	0.146565	0.1657	0.1599	5008	,	,		11830	0.256		0.1054	False		,,,				2504	0.0409				p.P657P		.											.	RIMBP2-142	0			c.A1971G						.	C		577,3799		41,495,1652	12.0	18.0	16.0		1971	-0.1	1.0	12	dbSNP_100	16	861,7691		48,765,3463	no	coding-synonymous	RIMBP2	NM_015347.4		89,1260,5115	CC,CT,TT		10.0678,13.1856,11.1231		657/1053	130921471	1438,11490	2188	4276	6464	SO:0001819	synonymous_variant	23504	exon10			TGGCTGTGGCAGG	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.1971A>G	12.37:g.130921471T>C		0	0		54	22	NM_015347	0	0	0	0	0	Q96ID2	Silent	SNP	ENST00000261655.4	37	CCDS31925.1																																																																																			T|0.868;C|0.132		0.736	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347	
ULK1	8408	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	12	132401137	132401137	+	Splice_Site	SNP	G	G	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:132401137G>T	ENST00000321867.4	+	20	2423		c.e20+1		ULK1_ENST00000540647.1_5'Flank	NM_003565.2	NP_003556	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1						autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|cellular response to nutrient levels (GO:0031669)|cerebellar granule cell differentiation (GO:0021707)|negative regulation of collateral sprouting (GO:0048671)|neuron projection development (GO:0031175)|neuron projection regeneration (GO:0031102)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|protein autophosphorylation (GO:0046777)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|radial glia guided migration of cerebellar granule cell (GO:0021933)|Ras protein signal transduction (GO:0007265)|receptor internalization (GO:0031623)|regulation of autophagy (GO:0010506)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|response to starvation (GO:0042594)	ATG1/UKL1 signaling complex (GO:0034273)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extrinsic component of autophagic vacuole membrane (GO:0097635)|extrinsic component of omegasome membrane (GO:0097629)|extrinsic component of pre-autophagosomal structure membrane (GO:0097632)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)	ATP binding (GO:0005524)|protein complex binding (GO:0032403)|protein serine/threonine kinase activity (GO:0004674)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		CCTTTGGCCGGTGAGTTGAGG	0.662																																					.		.											.	ULK1-758	0			c.2072+1G>T						.						11.0	14.0	13.0					12																	132401137		2169	4269	6438	SO:0001630	splice_region_variant	8408	exon20			TGGCCGGTGAGTT	AF045458	CCDS9274.1	12q24.3	2014-02-12	2013-07-02		ENSG00000177169	ENSG00000177169			12558	protein-coding gene	gene with protein product	"""ATG1 autophagy related 1 homolog (S. cerevisiae)"""	603168	"""unc-51 (C. elegans)-like kinase 1"", ""unc-51-like kinase 1 (C. elegans)"""			9693035	Standard	NM_003565		Approved	ATG1, ATG1A	uc001uje.3	O75385	OTTHUMG00000168052	ENST00000321867.4:c.2072+1G>T	12.37:g.132401137G>T		10	0		19	10	NM_003565	0	0	0	2	2	Q9UQ28	Splice_Site	SNP	ENST00000321867.4	37	CCDS9274.1	.	.	.	.	.	.	.	.	.	.	G	19.30	3.800407	0.70567	.	.	ENSG00000177169	ENST00000321867;ENST00000541761	.	.	.	5.69	5.69	0.88448	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4201	0.94719	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ULK1	130967090	1.000000	0.71417	1.000000	0.80357	0.658000	0.38924	3.293000	0.51779	2.684000	0.91462	0.655000	0.94253	.	.		0.662	ULK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397769.3		Intron
FLT1	2321	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	13	28883025	28883025	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr13:28883025G>A	ENST00000282397.4	-	28	3926	c.3675C>T	c.(3673-3675)atC>atT	p.I1225I	FLT1_ENST00000543394.1_Silent_p.I248I|FLT1_ENST00000540678.1_Silent_p.I443I	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	1225					blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CAAAGGTTTTGATTCTTTCCA	0.408																																					p.I1225I		.											.	FLT1-1406	0			c.C3675T						.						113.0	97.0	102.0					13																	28883025		2203	4300	6503	SO:0001819	synonymous_variant	2321	exon28			GGTTTTGATTCTT	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.3675C>T	13.37:g.28883025G>A		100	0		72	53	NM_002019	0	0	27	27	0	A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Silent	SNP	ENST00000282397.4	37	CCDS9330.1																																																																																			.		0.408	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1		
PDS5B	23047	bcgsc.ca	37	13	33232435	33232435	+	Silent	SNP	A	A	G	rs2301393	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr13:33232435A>G	ENST00000315596.10	+	4	558	c.372A>G	c.(370-372)caA>caG	p.Q124Q		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	124					cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of cell proliferation (GO:0008285)|regulation of cell proliferation (GO:0042127)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		AGAGCCCACAATTCAATAGGT	0.269													A|||	1359	0.271366	0.2337	0.3559	5008	,	,		14898	0.1389		0.4702	False		,,,				2504	0.1943				p.Q124Q		.											.	PDS5B-94	0			c.A372G						.	A		973,2617		134,705,956	54.0	51.0	52.0		372	-1.5	1.0	13	dbSNP_100	52	3475,4649		756,1963,1343	no	coding-synonymous	PDS5B	NM_015032.3		890,2668,2299	GG,GA,AA		42.7745,27.1031,37.9717		124/1448	33232435	4448,7266	1795	4062	5857	SO:0001819	synonymous_variant	23047	exon4			CCCACAATTCAAT	AB023196	CCDS41878.1	13q12.3	2008-02-05	2007-07-18	2007-07-18	ENSG00000083642	ENSG00000083642			20418	protein-coding gene	gene with protein product		605333	"""androgen-induced proliferation inhibitor"""	APRIN		8812419, 10215036	Standard	NM_015032		Approved	AS3, KIAA0979, FLJ23236, CG008	uc010abf.3	Q9NTI5	OTTHUMG00000016704	ENST00000315596.10:c.372A>G	13.37:g.33232435A>G		129	0		68	4	NM_015032	0	0	11	11	0	Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Silent	SNP	ENST00000315596.10	37	CCDS41878.1																																																																																			A|0.686;G|0.314		0.269	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044428.3	NM_015032	
PDS5B	23047	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	13	33338706	33338706	+	Missense_Mutation	SNP	A	A	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr13:33338706A>C	ENST00000315596.10	+	31	3784	c.3598A>C	c.(3598-3600)Aag>Cag	p.K1200Q	RNY1P4_ENST00000384595.1_RNA	NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	1200					cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of cell proliferation (GO:0008285)|regulation of cell proliferation (GO:0042127)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		AAAAAGTGACAAGAGAGACGA	0.318																																					p.K1200Q		.											.	PDS5B-94	0			c.A3598C						.						120.0	114.0	116.0					13																	33338706		1843	4090	5933	SO:0001583	missense	23047	exon31			AGTGACAAGAGAG	AB023196	CCDS41878.1	13q12.3	2008-02-05	2007-07-18	2007-07-18	ENSG00000083642	ENSG00000083642			20418	protein-coding gene	gene with protein product		605333	"""androgen-induced proliferation inhibitor"""	APRIN		8812419, 10215036	Standard	NM_015032		Approved	AS3, KIAA0979, FLJ23236, CG008	uc010abf.3	Q9NTI5	OTTHUMG00000016704	ENST00000315596.10:c.3598A>C	13.37:g.33338706A>C	ENSP00000313851:p.Lys1200Gln	118	0		45	34	NM_015032	0	0	0	9	9	Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Missense_Mutation	SNP	ENST00000315596.10	37	CCDS41878.1	.	.	.	.	.	.	.	.	.	.	A	14.32	2.500750	0.44455	.	.	ENSG00000083642	ENST00000315596;ENST00000421084;ENST00000447833	.	.	.	5.53	5.53	0.82687	.	0.152719	0.46145	D	0.000309	T	0.34395	0.0896	N	0.14661	0.345	0.48236	D	0.999619	P	0.43094	0.799	B	0.36666	0.23	T	0.16988	-1.0384	9	0.22706	T	0.39	-2.2634	15.9426	0.79768	1.0:0.0:0.0:0.0	.	1200	Q9NTI5	PDS5B_HUMAN	Q	1200;1200;154	.	ENSP00000313851:K1200Q	K	+	1	0	PDS5B	32236706	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	7.342000	0.79310	2.213000	0.71641	0.528000	0.53228	AAG	.		0.318	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044428.3	NM_015032	
FREM2	341640	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	13	39262894	39262894	+	Silent	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr13:39262894C>T	ENST00000280481.7	+	1	1629	c.1413C>T	c.(1411-1413)agC>agT	p.S471S		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	471					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TGGTCATCAGCGATGAGGATG	0.597																																					p.S471S		.											.	FREM2-100	0			c.C1413T						.						49.0	51.0	50.0					13																	39262894		2203	4300	6503	SO:0001819	synonymous_variant	341640	exon1			CATCAGCGATGAG	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.1413C>T	13.37:g.39262894C>T		82	0		69	62	NM_207361	0	0	0	0	0	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Silent	SNP	ENST00000280481.7	37	CCDS31960.1																																																																																			.		0.597	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361	
SIAH3	283514	bcgsc.ca	37	13	46357696	46357696	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr13:46357696C>T	ENST00000400405.2	-	2	738	c.632G>A	c.(631-633)cGc>cAc	p.R211H		NM_198849.2	NP_942146.2	Q8IW03	SIAH3_HUMAN	siah E3 ubiquitin protein ligase family member 3	211					multicellular organismal development (GO:0007275)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			large_intestine(3)|lung(7)|ovary(1)|skin(1)	12						CCACTTGAGGCGCCGATGGTT	0.622																																					p.R211H		.											.	SIAH3-92	0			c.G632A						.						45.0	51.0	49.0					13																	46357696		1994	4140	6134	SO:0001583	missense	283514	exon2			TTGAGGCGCCGAT		CCDS41883.1	13q14.12	2012-02-23	2012-02-23		ENSG00000215475	ENSG00000215475			30553	protein-coding gene	gene with protein product		615609	"""seven in absentia homolog 3 (Drosophila)"""			12477932	Standard	NM_198849		Approved	FLJ39203	uc001vap.3	Q8IW03	OTTHUMG00000016862	ENST00000400405.2:c.632G>A	13.37:g.46357696C>T	ENSP00000383256:p.Arg211His	77	2		55	44	NM_198849	0	0	0	0	0	B7ZBP0|Q8N8M6	Missense_Mutation	SNP	ENST00000400405.2	37	CCDS41883.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.599615	0.87055	.	.	ENSG00000215475	ENST00000400405	T	0.27256	1.68	5.07	5.07	0.68467	TRAF-type (1);Seven-in-absentia protein, TRAF-like domain (1);TRAF-like (1);	0.080109	0.47093	U	0.000255	T	0.47655	0.1457	M	0.73598	2.24	0.42780	D	0.993869	D	0.89917	1.0	D	0.66716	0.946	T	0.51108	-0.8747	10	0.87932	D	0	-7.7979	10.9973	0.47585	0.0:0.9142:0.0:0.0858	.	211	Q8IW03	SIAH3_HUMAN	H	211	ENSP00000383256:R211H	ENSP00000383256:R211H	R	-	2	0	SIAH3	45255697	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	5.982000	0.70532	2.369000	0.80426	0.561000	0.74099	CGC	.		0.622	SIAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044788.2	NM_198849	
MLNR	2862	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	13	49796459	49796459	+	Silent	SNP	A	A	T	rs202143577		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr13:49796459A>T	ENST00000218721.1	+	2	1185	c.1185A>T	c.(1183-1185)ggA>ggT	p.G395G	MLNR_ENST00000398307.1_3'UTR	NM_001507.1	NP_001498.1	O43193	MTLR_HUMAN	motilin receptor	395					digestion (GO:0007586)|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)|growth hormone-releasing hormone receptor activity (GO:0016520)			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)	14		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)		GGGACACTGGAGGAGACACGG	0.592																																					p.G395G		.											.	MLNR-90	0			c.A1185T						.						51.0	52.0	52.0					13																	49796459		2203	4300	6503	SO:0001819	synonymous_variant	2862	exon2			CACTGGAGGAGAC	AF034632	CCDS9414.1	13q14-q21	2012-08-08	2004-05-27	2004-05-28	ENSG00000102539	ENSG00000102539		"""GPCR / Class A : Motilin receptors"""	4495	protein-coding gene	gene with protein product		602885	"""G protein-coupled receptor 38"""	GPR38		9441746	Standard	NM_001507		Approved		uc010tgj.2	O43193	OTTHUMG00000016909	ENST00000218721.1:c.1185A>T	13.37:g.49796459A>T		74	0		44	38	NM_001507	0	0	0	0	0		Silent	SNP	ENST00000218721.1	37	CCDS9414.1																																																																																			.		0.592	MLNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044897.1	NM_001507	
KPNA3	3839	hgsc.bcm.edu	37	13	50283733	50283733	+	Nonsense_Mutation	SNP	G	G	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr13:50283733G>T	ENST00000261667.3	-	12	1421	c.1007C>A	c.(1006-1008)tCa>tAa	p.S336*		NM_002267.3	NP_002258.2	O00505	IMA4_HUMAN	karyopherin alpha 3 (importin alpha 4)	336	NLS binding site (minor). {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)|protein complex assembly (GO:0006461)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)	nuclear localization sequence binding (GO:0008139)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(4)	21		Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.42e-09)		TTTTGGGTGTGATAAGAGATT	0.423																																					p.S336X		.											.	KPNA3-226	0			c.C1007A						.						168.0	152.0	157.0					13																	50283733		2203	4300	6503	SO:0001587	stop_gained	3839	exon12			GGGTGTGATAAGA	D89618	CCDS9421.1	13q14.3	2013-02-14			ENSG00000102753	ENSG00000102753		"""Importins"", ""Armadillo repeat containing"""	6396	protein-coding gene	gene with protein product		601892				9154134, 9435235	Standard	NM_002267		Approved	SRP1gamma, SRP4, hSRP1, IPOA4	uc001vdj.2	O00505	OTTHUMG00000016922	ENST00000261667.3:c.1007C>A	13.37:g.50283733G>T	ENSP00000261667:p.Ser336*	101	0		65	4	NM_002267	0	0	23	23	0	O00191|O43195|Q5JVM9|Q96AA7	Nonsense_Mutation	SNP	ENST00000261667.3	37	CCDS9421.1	.	.	.	.	.	.	.	.	.	.	G	41	8.748785	0.98939	.	.	ENSG00000102753	ENST00000261667	.	.	.	5.25	5.25	0.73442	.	0.103486	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	-10.4687	19.2224	0.93803	0.0:0.0:1.0:0.0	.	.	.	.	X	336	.	ENSP00000261667:S336X	S	-	2	0	KPNA3	49181734	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.813000	0.99286	2.623000	0.88846	0.467000	0.42956	TCA	.		0.423	KPNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044939.2	NM_002267	
MYCBP2	23077	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	13	77780870	77780870	+	Silent	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr13:77780870A>G	ENST00000544440.2	-	24	3410	c.3393T>C	c.(3391-3393)tgT>tgC	p.C1131C	MYCBP2_ENST00000407578.2_Silent_p.C1169C|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Silent_p.C1131C					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TTAGGATACTACATCTGGACT	0.478																																					p.C1169C		.											.	MYCBP2-236	0			c.T3507C						.						159.0	119.0	133.0					13																	77780870		2203	4300	6503	SO:0001819	synonymous_variant	23077	exon24			GATACTACATCTG	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.3393T>C	13.37:g.77780870A>G		87	0		94	72	NM_015057	0	0	0	3	3		Silent	SNP	ENST00000544440.2	37																																																																																				.		0.478	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057	
FARP1	10160	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	13	99083455	99083455	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr13:99083455G>A	ENST00000319562.6	+	18	2329	c.2064G>A	c.(2062-2064)cgG>cgA	p.R688R	FARP1_ENST00000376586.2_Silent_p.R688R|FARP1_ENST00000595437.1_Silent_p.R688R	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	688	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			CACTGCACCGGCTCATGCACT	0.627																																					p.R688R		.											.	FARP1-290	0			c.G2064A						.						26.0	25.0	25.0					13																	99083455		2202	4300	6502	SO:0001819	synonymous_variant	10160	exon18			GCACCGGCTCATG	AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"""Rho guanine nucleotide exchange factors"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Pleckstrin homology (PH) domain containing"""	3591	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 75"""	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.2064G>A	13.37:g.99083455G>A		187	0		147	105	NM_005766	0	0	5	163	158	Q5JVI9|Q6IQ29	Silent	SNP	ENST00000319562.6	37	CCDS9487.1																																																																																			.		0.627	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045541.3	NM_005766	
FARP1	10160	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	13	99100570	99100570	+	Nonstop_Mutation	SNP	G	G	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr13:99100570G>C	ENST00000319562.6	+	27	3402	c.3137G>C	c.(3136-3138)tGa>tCa	p.*1046S	FARP1_ENST00000376586.2_Nonstop_Mutation_p.*1077S|FARP1_ENST00000595437.1_Nonstop_Mutation_p.*1077S	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	0					dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			CTTGTGTATTGATGGCCGGAC	0.512											OREG0022475	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.X1046S		.											.	FARP1-290	0			c.G3137C						.						201.0	159.0	173.0					13																	99100570		2203	4300	6503	SO:0001578	stop_lost	10160	exon27			TGTATTGATGGCC	AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"""Rho guanine nucleotide exchange factors"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Pleckstrin homology (PH) domain containing"""	3591	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 75"""	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.3137G>C	13.37:g.99100570G>C	ENSP00000322926:p.*1046Serext*22	208	0	1341	148	115	NM_005766	0	0	6	173	167	Q5JVI9|Q6IQ29	Missense_Mutation	SNP	ENST00000319562.6	37	CCDS9487.1	.	.	.	.	.	.	.	.	.	.	G	10.06	1.247784	0.22880	.	.	ENSG00000152767	ENST00000376586;ENST00000319562	.	.	.	5.14	5.14	0.70334	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6968	0.91604	0.0:0.0:1.0:0.0	.	.	.	.	S	1077;1046	.	.	X	+	2	2	FARP1	97898571	1.000000	0.71417	0.449000	0.26957	0.044000	0.14063	8.941000	0.92964	2.411000	0.81874	0.555000	0.69702	TGA	.		0.512	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045541.3	NM_005766	
TPP2	7174	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	13	103288650	103288650	+	Missense_Mutation	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr13:103288650A>G	ENST00000376065.4	+	13	1622	c.1586A>G	c.(1585-1587)aAt>aGt	p.N529S	TPP2_ENST00000376052.3_Missense_Mutation_p.N529S	NM_003291.2	NP_003282.2	P29144	TPP2_HUMAN	tripeptidyl peptidase II	529					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|tripeptidyl-peptidase activity (GO:0008240)			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ACTGTTGGAAATAACCGTGGC	0.408																																					p.N529S		.											.	TPP2-92	0			c.A1586G						.						105.0	93.0	97.0					13																	103288650		2203	4300	6503	SO:0001583	missense	7174	exon13			TTGGAAATAACCG	M55169	CCDS9502.1	13q32-q33	2008-02-05			ENSG00000134900	ENSG00000134900	3.4.14.10		12016	protein-coding gene	gene with protein product		190470				1670990	Standard	NM_003291		Approved		uc001vpi.4	P29144	OTTHUMG00000017305	ENST00000376065.4:c.1586A>G	13.37:g.103288650A>G	ENSP00000365233:p.Asn529Ser	176	0		95	76	NM_003291	0	0	0	3	3	Q5VZU8	Missense_Mutation	SNP	ENST00000376065.4	37	CCDS9502.1	.	.	.	.	.	.	.	.	.	.	A	13.09	2.134657	0.37630	.	.	ENSG00000134900	ENST00000376065;ENST00000376052	.	.	.	6.08	1.84	0.25277	.	0.430271	0.27826	N	0.017683	T	0.30008	0.0751	N	0.12637	0.245	0.39350	D	0.965747	B	0.02656	0.0	B	0.01281	0.0	T	0.06588	-1.0818	9	0.40728	T	0.16	.	7.8236	0.29303	0.6114:0.2919:0.0967:0.0	.	529	P29144	TPP2_HUMAN	S	529	.	ENSP00000365220:N529S	N	+	2	0	TPP2	102086651	0.989000	0.36119	1.000000	0.80357	0.997000	0.91878	0.368000	0.20399	0.471000	0.27319	0.482000	0.46254	AAT	.		0.408	TPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045683.2		
LINC00283	100874057	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	13	103399586	103399586	+	RNA	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr13:103399586T>C	ENST00000430111.1	+	0	3894									long intergenic non-protein coding RNA 283																		TAATCTGCTATACATTCTAGT	0.338																																					p.Y1154C		.											.	.	0			c.A3461G						.						146.0	108.0	120.0					13																	103399586		692	1590	2282			643677	exon4			CTGCTATACATTC			13q33.1	2012-10-12	2011-08-10	2011-08-10	ENSG00000231633	ENSG00000231633		"""Long non-coding RNAs"""	38809	non-coding RNA	RNA, long non-coding			"""non-protein coding RNA 283"""	NCRNA00283			Standard			Approved				OTTHUMG00000017311		13.37:g.103399586T>C		46	0		29	24	NM_001146197	0	0	0	0	0		Missense_Mutation	SNP	ENST00000430111.1	37																																																																																				.		0.338	LINC00283-001	KNOWN	not_organism_supported|basic	antisense	antisense	OTTHUMT00000045714.1		
CDC16	8881	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	13	115030673	115030673	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr13:115030673C>T	ENST00000356221.3	+	17	1669	c.1561C>T	c.(1561-1563)Cat>Tat	p.H521Y	CDC16_ENST00000360383.3_Missense_Mutation_p.H521Y|CDC16_ENST00000252458.6_Missense_Mutation_p.H376Y|CDC16_ENST00000375310.1_Missense_Mutation_p.H427Y|CDC16_ENST00000375308.1_Missense_Mutation_p.H427Y|CDC16_ENST00000252457.5_Missense_Mutation_p.H520Y|CDC16_ENST00000461716.1_3'UTR|CDC16_ENST00000375312.3_Missense_Mutation_p.H376Y			Q13042	CDC16_HUMAN	cell division cycle 16	521					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of mitosis (GO:0007088)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|spindle (GO:0005819)				endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)			AATGCTTGGTCATTGCATCGA	0.343																																					p.H521Y		.											.	CDC16-226	0			c.C1561T						.						346.0	324.0	332.0					13																	115030673		2203	4300	6503	SO:0001583	missense	8881	exon17			CTTGGTCATTGCA	U18291	CCDS9542.2	13q34	2013-01-17	2013-01-17		ENSG00000130177	ENSG00000130177		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1720	protein-coding gene	gene with protein product	"""anaphase-promoting complex, subunit 6"""	603461	"""CDC16 (cell division cycle 16, S. cerevisiae, homolog)"", ""CDC16 cell division cycle 16 homolog (S. cerevisiae)"", ""cell division cycle 16 homolog (S. cerevisiae)"""			7736578	Standard	NM_001078645		Approved	APC6, ANAPC6, CUT9	uc001vul.1	Q13042	OTTHUMG00000017402	ENST00000356221.3:c.1561C>T	13.37:g.115030673C>T	ENSP00000348554:p.His521Tyr	151	1		98	78	NM_003903	0	0	0	22	22	A2A365|Q5T8C8|Q96AE6|Q9Y564	Missense_Mutation	SNP	ENST00000356221.3	37	CCDS9542.2	.	.	.	.	.	.	.	.	.	.	C	15.31	2.796014	0.50208	.	.	ENSG00000130177	ENST00000360383;ENST00000375312;ENST00000356221;ENST00000375310;ENST00000252457;ENST00000375308;ENST00000252458	T;T	0.75938	-0.98;-0.98	5.79	5.79	0.91817	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.63988	0.2558	N	0.24115	0.695	0.80722	D	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.08055	0.003;0.001;0.001	T	0.57015	-0.7883	9	.	.	.	-18.5428	20.0193	0.97489	0.0:1.0:0.0:0.0	.	469;520;521	Q13042-3;Q13042-2;Q13042	.;.;CDC16_HUMAN	Y	521;376;521;427;520;427;376	ENSP00000364461:H376Y;ENSP00000252458:H376Y	.	H	+	1	0	CDC16	114048775	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.794000	0.75135	2.739000	0.93911	0.650000	0.86243	CAT	.		0.343	CDC16-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276737.1	NM_003903	
UPF3A	65110	hgsc.bcm.edu;broad.mit.edu	37	13	115057211	115057211	+	Frame_Shift_Del	DEL	A	A	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr13:115057211delA	ENST00000375299.3	+	7	846	c.790delA	c.(790-792)aaafs	p.K266fs	UPF3A_ENST00000351487.5_Frame_Shift_Del_p.K233fs|UPF3A_ENST00000475218.2_3'UTR	NM_023011.3	NP_075387.1	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A (yeast)	266					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleocytoplasmic transport (GO:0006913)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		agaaagatgcaaaaaaaaaga	0.363																																					p.K264fs		.											.	UPF3A-91	0			c.790delA						.		,	20,35,4205		1,0,18,1,33,2077	38.0	39.0	39.0		,	-1.8	0.0	13		39	41,44,8143		3,0,35,0,44,4032	no	codingComplex,codingComplex	UPF3A	NM_080687.2,NM_023011.3	,	4,0,53,1,77,6109	A1A1,A1A2,A1R,A2A2,A2R,RR		1.0331,1.2911,1.1211	,	,	115057211	61,79,12348	2200	4295	6495	SO:0001589	frameshift_variant	65110	exon7			AGATGCAAAAAAA	AF318575	CCDS9543.1, CCDS9544.1	13q34	2010-04-30			ENSG00000169062	ENSG00000169062			20332	protein-coding gene	gene with protein product		605530				11113196, 11163187	Standard	NM_023011		Approved	RENT3A, UPF3, HUPF3A	uc001vup.3	Q9H1J1	OTTHUMG00000017403	ENST00000375299.3:c.790delA	13.37:g.115057211delA	ENSP00000364448:p.Lys266fs	55	0		39	28	NM_023011	0	0	0	0	0	A2A366|Q5T8C3|Q5T8C9|Q7Z6N3|Q86YK1|Q9BZI8	Frame_Shift_Del	DEL	ENST00000375299.3	37	CCDS9543.1																																																																																			.		0.363	UPF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045968.2		
POTEG	404785	broad.mit.edu;ucsc.edu;bcgsc.ca	37	14	19573146	19573146	+	Splice_Site	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:19573146T>C	ENST00000409832.3	+	8	1294		c.e8+2			NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G											cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						GATAGAAAGGTATACTTTTAT	0.318																																					.		.											.	POTEG-1	0			c.1242+2T>C						.						153.0	161.0	158.0					14																	19573146		2199	4291	6490	SO:0001630	splice_region_variant	404785	exon8			GAAAGGTATACTT		CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33896	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 4"""	608916	"""ANKRD26-like family C, member 2"""	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.1242+2T>C	14.37:g.19573146T>C		1480	1		1895	270	NM_001005356	0	0	0	0	0	A1L153|A6NMI9|Q6S5H6|Q6S8J2	Splice_Site	SNP	ENST00000409832.3	37	CCDS32018.1	.	.	.	.	.	.	.	.	.	.	.	1.627	-0.520095	0.04171	.	.	ENSG00000222036	ENST00000409832	.	.	.	0.993	-0.262	0.12958	.	.	.	.	.	.	.	.	.	.	.	0.19775	N	0.999958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.958	0.05883	0.0:0.3099:0.0:0.6901	.	.	.	.	.	-1	.	.	.	+	.	.	POTEG	18643146	0.000000	0.05858	0.003000	0.11579	0.023000	0.10783	-0.028000	0.12350	-0.089000	0.12484	0.155000	0.16302	.	.		0.318	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	NM_001005356	Intron
OR4K2	390431	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	20345046	20345046	+	Missense_Mutation	SNP	C	C	T	rs371172454		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:20345046C>T	ENST00000298642.2	+	1	656	c.620C>T	c.(619-621)gCg>gTg	p.A207V		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	207						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A207V(1)|p.A207E(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GGCATAATTGCGTTGTCCTGT	0.398																																					p.A207V		.											.	OR4K2-72	2	Substitution - Missense(2)	lung(1)|endometrium(1)	c.C620T						.	C	VAL/ALA	0,4406		0,0,2203	312.0	312.0	312.0		620	4.1	0.9	14		312	1,8599		0,1,4299	no	missense	OR4K2	NM_001005501.1	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	207/315	20345046	1,13005	2203	4300	6503	SO:0001583	missense	390431	exon1			TAATTGCGTTGTC		CCDS32023.1	14q11.2	2013-09-23			ENSG00000165762	ENSG00000165762		"""GPCR / Class A : Olfactory receptors"""	14728	protein-coding gene	gene with protein product							Standard	NM_001005501		Approved		uc001vwh.1	Q8NGD2	OTTHUMG00000170624	ENST00000298642.2:c.620C>T	14.37:g.20345046C>T	ENSP00000298642:p.Ala207Val	138	1		163	47	NM_001005501	0	0	0	0	0	B2RNK8|Q6IFA5	Missense_Mutation	SNP	ENST00000298642.2	37	CCDS32023.1	.	.	.	.	.	.	.	.	.	.	.	13.30	2.197465	0.38806	0.0	1.16E-4	ENSG00000165762	ENST00000298642	T	0.35605	1.3	5.0	4.11	0.48088	GPCR, rhodopsin-like superfamily (1);	0.139136	0.32884	N	0.005535	T	0.38374	0.1038	N	0.25060	0.705	0.28288	N	0.923682	D	0.64830	0.994	P	0.62491	0.903	T	0.15435	-1.0437	10	0.59425	D	0.04	.	7.7058	0.28648	0.0:0.8129:0.0:0.1871	.	207	Q8NGD2	OR4K2_HUMAN	V	207	ENSP00000298642:A207V	ENSP00000298642:A207V	A	+	2	0	OR4K2	19414886	0.000000	0.05858	0.866000	0.34008	0.186000	0.23388	-0.259000	0.08721	1.331000	0.45412	0.467000	0.42956	GCG	.		0.398	OR4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409864.1		
OR4K15	81127	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	20444355	20444355	+	Missense_Mutation	SNP	T	T	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:20444355T>A	ENST00000305051.5	+	1	753	c.678T>A	c.(676-678)gaT>gaA	p.D226E		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	226						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TAGTTGCAGATAGTGGCTTTC	0.433																																					p.D226E		.											.	OR4K15-69	0			c.T678A						.						164.0	158.0	160.0					14																	20444355		2203	4300	6503	SO:0001583	missense	81127	exon1			TGCAGATAGTGGC		CCDS32026.1	14q11.2	2013-09-23			ENSG00000169488	ENSG00000169488		"""GPCR / Class A : Olfactory receptors"""	15353	protein-coding gene	gene with protein product							Standard	NM_001005486		Approved	OR4K15Q	uc010tkx.2	Q8NH41	OTTHUMG00000170635	ENST00000305051.5:c.678T>A	14.37:g.20444355T>A	ENSP00000304077:p.Asp226Glu	122	0		126	60	NM_001005486	0	0	0	0	0	B9EIL3|Q6IEZ4	Missense_Mutation	SNP	ENST00000305051.5	37	CCDS32026.1	.	.	.	.	.	.	.	.	.	.	.	10.34	1.322913	0.23994	.	.	ENSG00000169488	ENST00000305051	T	0.00076	8.76	3.98	1.97	0.26223	GPCR, rhodopsin-like superfamily (1);	0.116246	0.38272	N	0.001751	T	0.00109	0.0003	N	0.13371	0.34	0.29058	N	0.884072	B	0.31153	0.31	B	0.37387	0.248	T	0.07888	-1.0749	10	0.72032	D	0.01	.	8.1919	0.31374	0.0:0.7855:0.0:0.2145	.	226	Q8NH41	OR4KF_HUMAN	E	226	ENSP00000304077:D226E	ENSP00000304077:D226E	D	+	3	2	OR4K15	19514195	0.000000	0.05858	1.000000	0.80357	0.271000	0.26615	-2.637000	0.00866	0.862000	0.35528	-0.292000	0.09595	GAT	.		0.433	OR4K15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409883.1		
OR11G2	390439	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	20666484	20666484	+	Silent	SNP	T	T	C	rs200553632		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:20666484T>C	ENST00000357366.3	+	1	990	c.990T>C	c.(988-990)ctT>ctC	p.L330L		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	330						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		tatatagtCTTAGGAACAAAG	0.373																																					p.L330L		.											.	OR11G2-70	0			c.T990C						.						94.0	100.0	98.0					14																	20666484		2203	4300	6503	SO:0001819	synonymous_variant	390439	exon1			TAGTCTTAGGAAC		CCDS32032.1	14q11.2	2013-09-24			ENSG00000196832	ENSG00000196832		"""GPCR / Class A : Olfactory receptors"""	15346	protein-coding gene	gene with protein product							Standard	NM_001005503		Approved		uc010tlb.2	Q8NGC1	OTTHUMG00000167700	ENST00000357366.3:c.990T>C	14.37:g.20666484T>C		49	0		75	38	NM_001005503	0	0	0	0	0	Q6IF09|Q96R33	Silent	SNP	ENST00000357366.3	37	CCDS32032.1																																																																																			T|0.999;G|0.000		0.373	OR11G2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395722.1		
APEX1	328	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	20924074	20924074	+	Splice_Site	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:20924074G>A	ENST00000216714.3	+	3	328	c.60G>A	c.(58-60)gaG>gaA	p.E20E	APEX1_ENST00000557054.1_Intron|OSGEP_ENST00000206542.4_5'Flank|APEX1_ENST00000557365.1_3'UTR|APEX1_ENST00000398030.4_Splice_Site_p.E20E|APEX1_ENST00000555414.1_Splice_Site_p.E20E|OSGEP_ENST00000556252.1_5'Flank	NM_001244249.1|NM_001641.3	NP_001231178.1|NP_001632.2	P27695	APEX1_HUMAN	APEX nuclease (multifunctional DNA repair enzyme) 1	20	Necessary for interaction with YBX1, binding to RNA, NPM1-dependent association with rRNA, endoribonuclease activity on abasic RNA and localization in the nucleoli.				aging (GO:0007568)|base-excision repair (GO:0006284)|cell redox homeostasis (GO:0045454)|cellular response to cAMP (GO:0071320)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to peptide hormone stimulus (GO:0071375)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA demethylation (GO:0080111)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|negative regulation of smooth muscle cell migration (GO:0014912)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|oxidation-reduction process (GO:0055114)|positive regulation of DNA repair (GO:0045739)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribosome (GO:0005840)|transcription factor complex (GO:0005667)	3'-5' exonuclease activity (GO:0008408)|chromatin DNA binding (GO:0031490)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008311)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|phosphodiesterase I activity (GO:0004528)|phosphoric diester hydrolase activity (GO:0008081)|poly(A) RNA binding (GO:0044822)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|uracil DNA N-glycosylase activity (GO:0004844)			breast(2)|endometrium(1)|large_intestine(4)|ovary(2)	9	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)	Lucanthone(DB04967)	ATTTTATAGAGCCAGAGGCCA	0.493								Other BER factors																													p.E20E		.											.	APEX1-661	0			c.G60A						.						34.0	43.0	40.0					14																	20924074		2203	4298	6501	SO:0001630	splice_region_variant	328	exon3			TATAGAGCCAGAG	X59764	CCDS9550.1	14q11.2	2008-02-05	2002-09-11	2002-09-13	ENSG00000100823	ENSG00000100823	4.2.99.18		587	protein-coding gene	gene with protein product		107748	"""APEX nuclease (multifunctional DNA repair enzyme)"""	APEX			Standard	NM_001641		Approved	APE, REF1, HAP1, APX, APEN, REF-1, APE-1	uc021rnr.1	P27695	OTTHUMG00000029544	ENST00000216714.3:c.59-1G>A	14.37:g.20924074G>A		18	0		26	12	NM_080648	0	0	0	0	0	Q969L5|Q99775	Silent	SNP	ENST00000216714.3	37	CCDS9550.1																																																																																			.		0.493	APEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073641.3	NM_001641	Silent
OR6S1	341799	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	21109455	21109455	+	Silent	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:21109455C>T	ENST00000320704.3	-	1	395	c.396G>A	c.(394-396)ctG>ctA	p.L132L		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	132						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		AGGGGTAGCGCAGAGGATGAC	0.577																																					p.L132L		.											.	OR6S1-70	0			c.G396A						.						100.0	78.0	85.0					14																	21109455		2203	4300	6503	SO:0001819	synonymous_variant	341799	exon1			GTAGCGCAGAGGA	AL163636	CCDS32038.1	14q11.2	2013-09-24			ENSG00000181803	ENSG00000181803		"""GPCR / Class A : Olfactory receptors"""	15363	protein-coding gene	gene with protein product							Standard	NM_001001968		Approved	OR6S1Q	uc001vxv.1	Q8NH40	OTTHUMG00000171010	ENST00000320704.3:c.396G>A	14.37:g.21109455C>T		199	0		258	106	NM_001001968	0	0	0	0	0	Q6IFJ9	Silent	SNP	ENST00000320704.3	37	CCDS32038.1																																																																																			.		0.577	OR6S1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411227.1		
HAUS4	54930	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	14	23415765	23415765	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:23415765G>A	ENST00000206474.7	-	10	1313	c.1061C>T	c.(1060-1062)gCc>gTc	p.A354V	RP11-298I3.1_ENST00000548322.1_RNA|HAUS4_ENST00000555986.1_Missense_Mutation_p.A309V|HAUS4_ENST00000541587.1_Missense_Mutation_p.A354V|HAUS4_ENST00000490506.1_Missense_Mutation_p.A230V|HAUS4_ENST00000347758.2_Missense_Mutation_p.A228V|HAUS4_ENST00000397409.4_Missense_Mutation_p.A228V|HAUS4_ENST00000342454.8_Missense_Mutation_p.A309V|HAUS4_ENST00000554446.1_5'UTR|RP11-298I3.5_ENST00000555074.1_Silent_p.G183G|RP11-298I3.1_ENST00000548819.1_RNA|HAUS4_ENST00000555367.1_Missense_Mutation_p.A309V			Q9H6D7	HAUS4_HUMAN	HAUS augmin-like complex, subunit 4	354					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				breast(3)|cervix(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)	14						CTCCTGGAGGGCCCACCGCTT	0.562																																					p.A354V		.											.	HAUS4-91	0			c.C1061T						.						77.0	68.0	71.0					14																	23415765		2203	4300	6503	SO:0001583	missense	54930	exon10			TGGAGGGCCCACC	AK000431	CCDS9580.1, CCDS53886.1	14q11.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000092036	ENSG00000092036		"""HAUS augmin-like complex subunits"""	20163	protein-coding gene	gene with protein product		613431	"""chromosome 14 open reading frame 94"""	C14orf94		19427217	Standard	NM_017815		Approved	FLJ20424	uc001wht.3	Q9H6D7	OTTHUMG00000028710	ENST00000206474.7:c.1061C>T	14.37:g.23415765G>A	ENSP00000206474:p.Ala354Val	91	0		120	51	NM_001166269	0	0	11	13	2	B7WP17|D3DS34|Q86T15|Q86T16|Q86U43|Q9NX59	Missense_Mutation	SNP	ENST00000206474.7	37	CCDS9580.1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.956487	0.53293	.	.	ENSG00000092036;ENSG00000092036;ENSG00000092036;ENSG00000092036;ENSG00000092036;ENSG00000092036;ENSG00000092036;ENSG00000092036;ENSG00000259132	ENST00000206474;ENST00000490506;ENST00000541587;ENST00000342454;ENST00000347758;ENST00000397409;ENST00000555367;ENST00000555986;ENST00000555074	.	.	.	5.8	4.91	0.64330	.	0.210209	0.49916	N	0.000130	T	0.49898	0.1584	L	0.50333	1.59	0.34249	D	0.678552	B;B;B	0.12630	0.001;0.001;0.006	B;B;B	0.10450	0.003;0.004;0.005	T	0.58956	-0.7544	9	0.51188	T	0.08	-1.425	9.2927	0.37797	0.1638:0.0:0.8362:0.0	.	309;228;354	Q9H6D7-4;Q9H6D7-2;Q9H6D7	.;.;HAUS4_HUMAN	V	354;230;354;309;228;228;309;309;131	.	ENSP00000206474:A354V	A	-	2	0	RP11-298I3.5;HAUS4	22485605	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	3.171000	0.50824	1.465000	0.48006	0.585000	0.79938	GCC	.		0.562	HAUS4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071680.3		
PSMB5	5693	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	23504062	23504062	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:23504062G>A	ENST00000361611.6	-	1	292	c.29C>T	c.(28-30)cCg>cTg	p.P10L	PSMB5_ENST00000425762.2_Intron|PSMB5_ENST00000460922.2_Missense_Mutation_p.P10L|AL132780.1_ENST00000385031.1_RNA|PSMB5_ENST00000493471.2_Missense_Mutation_p.P10L	NM_002797.3	NP_002788.1	P28074	PSB5_HUMAN	proteasome (prosome, macropain) subunit, beta type, 5	10					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to oxidative stress (GO:0006979)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	threonine-type endopeptidase activity (GO:0004298)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0121)	Bortezomib(DB00188)|Carfilzomib(DB08889)	CACCGGTAGCGGTCTCTCCAA	0.592																																					p.P10L		.											.	PSMB5-91	0			c.C29T						.						41.0	39.0	40.0					14																	23504062		2203	4300	6503	SO:0001583	missense	5693	exon1			GGTAGCGGTCTCT	D29011	CCDS9584.1, CCDS45083.1, CCDS45084.1	14q11.2	2008-08-29			ENSG00000100804	ENSG00000100804		"""Proteasome (prosome, macropain) subunits"""	9542	protein-coding gene	gene with protein product		600306				8066462, 8811196	Standard	NM_001130725		Approved	X, MB1	uc001wii.3	P28074	OTTHUMG00000028713	ENST00000361611.6:c.29C>T	14.37:g.23504062G>A	ENSP00000355325:p.Pro10Leu	80	0		82	45	NM_001144932	0	0	282	509	227	B2R4N9|B4DUM9|D3DS43|E9PAV2|Q16242|Q6PEW2|Q7Z3B5|Q86T01|Q9TNN9	Missense_Mutation	SNP	ENST00000361611.6	37	CCDS9584.1	.	.	.	.	.	.	.	.	.	.	G	9.777	1.174257	0.21704	.	.	ENSG00000100804	ENST00000361611;ENST00000493471;ENST00000460922	T;T;T	0.49432	0.78;0.78;0.78	5.22	3.37	0.38596	.	0.479050	0.23688	N	0.045555	T	0.25644	0.0624	N	0.12182	0.205	0.80722	D	1	B;B	0.27765	0.188;0.118	B;B	0.21708	0.036;0.02	T	0.04870	-1.0921	10	0.40728	T	0.16	-7.9224	6.9777	0.24686	0.0792:0.0:0.4706:0.4503	.	10;10	P28074-2;P28074	.;PSB5_HUMAN	L	10	ENSP00000355325:P10L;ENSP00000452424:P10L;ENSP00000451286:P10L	ENSP00000334973:P10L	P	-	2	0	PSMB5	22573902	1.000000	0.71417	0.921000	0.36526	0.679000	0.39708	1.945000	0.40273	0.576000	0.29452	-1.476000	0.00998	CCG	.		0.592	PSMB5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071695.4	NM_002797	
BCL2L2	599	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	23777326	23777326	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:23777326C>T	ENST00000250405.5	+	3	579	c.350C>T	c.(349-351)cCa>cTa	p.P117L	BCL2L2-PABPN1_ENST00000553781.1_Missense_Mutation_p.P117L|BCL2L2-PABPN1_ENST00000557008.1_Missense_Mutation_p.P117L	NM_001199839.1|NM_004050.4	NP_001186768.1|NP_004041	Q92843	B2CL2_HUMAN	BCL2-like 2	117					extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|Sertoli cell proliferation (GO:0060011)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|lung(4)|prostate(1)	6	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00654)		GAGATGGAACCACTGGTGGGA	0.562																																					p.P117L		.											.	.	0			c.C350T						.						54.0	59.0	57.0					14																	23777326		2203	4300	6503	SO:0001583	missense	100529063	exon3			TGGAACCACTGGT	D87461	CCDS9591.1	14q11.2-q12	2014-03-07			ENSG00000129473	ENSG00000129473		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	995	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 51"""	601931				8761287	Standard	NM_001199839		Approved	KIAA0271, BCL-W, PPP1R51		Q92843	OTTHUMG00000028738	ENST00000250405.5:c.350C>T	14.37:g.23777326C>T	ENSP00000250405:p.Pro117Leu	91	0		96	37	NM_001199864	0	0	27	42	15	A8K0F4|Q2M3U0|Q5U0H4	Missense_Mutation	SNP	ENST00000250405.5	37	CCDS9591.1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.227792	0.58668	.	.	ENSG00000129473;ENSG00000129473;ENSG00000129473;ENSG00000258643;ENSG00000258643;ENSG00000258643	ENST00000250405;ENST00000557236;ENST00000557579;ENST00000553781;ENST00000556100;ENST00000557008	T;T;T;T;T;T	0.47528	0.84;2.82;2.82;2.82;0.84;2.82	5.74	4.85	0.62838	Apoptosis regulator, Bcl2-like (1);Apoptosis regulator, Bcl-2, BH (3);	0.101476	0.41823	D	0.000810	T	0.43077	0.1231	L	0.48642	1.525	0.39479	D	0.967855	B;B	0.26602	0.154;0.035	B;B	0.28139	0.086;0.081	T	0.44544	-0.9321	10	0.62326	D	0.03	-1.1476	12.2948	0.54840	0.0:0.9185:0.0:0.0815	.	117;117	G3V5R7;Q92843	.;B2CL2_HUMAN	L	117	ENSP00000250405:P117L;ENSP00000451701:P117L;ENSP00000452265:P117L;ENSP00000451320:P117L;ENSP00000450916:P117L;ENSP00000452479:P117L	ENSP00000250405:P117L	P	+	2	0	RP11-124D2.2;BCL2L2	22847166	0.030000	0.19436	0.980000	0.43619	0.988000	0.76386	1.482000	0.35486	1.426000	0.47256	0.655000	0.94253	CCA	.		0.562	BCL2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071763.3	NM_004050	
SLC22A17	51310	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	23821014	23821014	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:23821014G>A	ENST00000206544.8	-	2	654	c.318C>T	c.(316-318)ctC>ctT	p.L106L	SLC22A17_ENST00000474057.1_Intron|SLC22A17_ENST00000354772.3_Silent_p.L106L|SLC22A17_ENST00000397260.3_Intron|SLC22A17_ENST00000397267.1_Silent_p.L106L	NM_020372.2	NP_065105.2	Q8WUG5	S22AH_HUMAN	solute carrier family 22, member 17	106					ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|siderophore transport (GO:0015891)	integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)|vacuole (GO:0005773)	transmembrane signaling receptor activity (GO:0004888)|transmembrane transporter activity (GO:0022857)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		CCAAGATGAAGAGGATCTGCT	0.647																																					p.L106L		.											.	SLC22A17-226	0			c.C318T						.						78.0	64.0	69.0					14																	23821014		2203	4300	6503	SO:0001819	synonymous_variant	51310	exon3			GATGAAGAGGATC	AJ243653	CCDS9593.1, CCDS9594.2	14q11.2	2013-05-22	2008-01-11		ENSG00000092096	ENSG00000092096		"""Solute carriers"""	23095	protein-coding gene	gene with protein product	"""neutrophil gelatinase-associated lipocalin receptor"""	611461				16377569	Standard	NM_016609		Approved	BOCT, BOIT, NGALR	uc001wjl.3	Q8WUG5	OTTHUMG00000028740	ENST00000206544.8:c.318C>T	14.37:g.23821014G>A		198	2		240	93	NM_016609	0	0	5	5	0	A4UA13|A8MUT0|Q2TAB0|Q5BKY8|Q86U04|Q9H1D3|Q9NQD5	Silent	SNP	ENST00000206544.8	37	CCDS9593.1																																																																																			.		0.647	SLC22A17-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157223.3	NM_020372	
IL25	64806	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	23844931	23844931	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:23844931C>T	ENST00000329715.2	+	2	634	c.376C>T	c.(376-378)Ccc>Tcc	p.P126S	CMTM5_ENST00000555731.1_5'Flank|CMTM5_ENST00000359320.3_5'Flank|CMTM5_ENST00000339180.4_5'Flank|CMTM5_ENST00000382809.2_5'Flank|CMTM5_ENST00000397227.3_5'Flank|CMTM5_ENST00000342473.4_5'Flank|IL25_ENST00000397242.2_Missense_Mutation_p.P110S	NM_022789.3	NP_073626.1	Q9H293	IL25_HUMAN	interleukin 25	126					eosinophil differentiation (GO:0030222)|inflammatory response to antigenic stimulus (GO:0002437)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to fungus (GO:0009620)|response to nematode (GO:0009624)	extracellular space (GO:0005615)	interleukin-17E receptor binding (GO:0030380)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396)		CCACATGGACCCCCGGGGCAA	0.647																																					p.P126S		.											.	IL25-91	0			c.C376T						.						83.0	80.0	81.0					14																	23844931		2203	4300	6503	SO:0001583	missense	64806	exon2			ATGGACCCCCGGG	AF305200	CCDS9597.1, CCDS45086.1	14q11.2	2008-01-07	2006-05-17	2006-05-17	ENSG00000166090	ENSG00000166090		"""Interleukins and interleukin receptors"""	13765	protein-coding gene	gene with protein product		605658	"""interleukin 17E"""	IL17E		11058597, 11754819	Standard	NM_172314		Approved	IL-25, IL-17E	uc001wjq.3	Q9H293	OTTHUMG00000028749	ENST00000329715.2:c.376C>T	14.37:g.23844931C>T	ENSP00000328111:p.Pro126Ser	162	1		197	84	NM_022789	0	0	0	0	0	Q2M3F0|Q8IZV3|Q8WXB0	Missense_Mutation	SNP	ENST00000329715.2	37	CCDS9597.1	.	.	.	.	.	.	.	.	.	.	C	13.82	2.352218	0.41700	.	.	ENSG00000166090	ENST00000397242;ENST00000329715	T;T	0.50548	0.74;0.74	4.5	3.59	0.41128	.	0.240936	0.30085	N	0.010451	T	0.46483	0.1395	N	0.24115	0.695	0.29706	N	0.839779	D;D	0.71674	0.959;0.998	P;D	0.66979	0.492;0.948	T	0.29701	-1.0003	10	0.22109	T	0.4	-30.8186	8.5478	0.33433	0.0:0.891:0.0:0.109	.	126;110	Q9H293;Q9H293-2	IL25_HUMAN;.	S	110;126	ENSP00000380417:P110S;ENSP00000328111:P126S	ENSP00000328111:P126S	P	+	1	0	IL25	22914771	0.350000	0.24878	1.000000	0.80357	0.933000	0.57130	0.511000	0.22739	2.333000	0.79357	0.561000	0.74099	CCC	.		0.647	IL25-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071789.2		
MYH6	4624	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	23865566	23865566	+	Missense_Mutation	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:23865566T>C	ENST00000356287.3	-	19	2385	c.2356A>G	c.(2356-2358)Atc>Gtc	p.I786V	MYH6_ENST00000405093.3_Missense_Mutation_p.I786V			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	786	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CGCGTGATGATGCGGCTCAGC	0.607																																					p.I786V		.											.	MYH6-94	0			c.A2356G						.						71.0	61.0	65.0					14																	23865566		2203	4300	6503	SO:0001583	missense	4624	exon20			TGATGATGCGGCT	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.2356A>G	14.37:g.23865566T>C	ENSP00000348634:p.Ile786Val	67	1		73	34	NM_002471	0	0	0	0	0	A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	t	8.517	0.867949	0.17250	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	T;T	0.71579	-0.58;-0.58	4.78	4.78	0.61160	.	.	.	.	.	T	0.68155	0.2970	M	0.71206	2.165	0.46954	D	0.999263	B	0.25563	0.129	B	0.28011	0.085	T	0.64529	-0.6386	9	0.24483	T	0.36	.	11.8548	0.52431	0.0:0.0:0.1457:0.8543	.	786	P13533	MYH6_HUMAN	V	786	ENSP00000386041:I786V;ENSP00000348634:I786V	ENSP00000348634:I786V	I	-	1	0	MYH6	22935406	0.888000	0.30383	1.000000	0.80357	0.243000	0.25628	1.293000	0.33353	1.929000	0.55896	0.528000	0.53228	ATC	.		0.607	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3		
MYH6	4624	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	23872558	23872558	+	Splice_Site	SNP	C	C	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:23872558C>G	ENST00000356287.3	-	9	926	c.897G>C	c.(895-897)ctG>ctC	p.L299L	MYH6_ENST00000405093.3_Splice_Site_p.L299L			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	299	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CAGGTTCACCCAGCAACTCCG	0.607																																					p.L299L		.											.	MYH6-94	0			c.G897C						.						144.0	152.0	149.0					14																	23872558		2203	4300	6503	SO:0001630	splice_region_variant	4624	exon10			TTCACCCAGCAAC	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.898+1G>C	14.37:g.23872558C>G		86	0		101	44	NM_002471	0	0	0	0	0	A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Silent	SNP	ENST00000356287.3	37	CCDS9600.1																																																																																			.		0.607	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3		Silent
MYH7	4625	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	23894924	23894924	+	Missense_Mutation	SNP	A	A	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:23894924A>T	ENST00000355349.3	-	20	2428	c.2266T>A	c.(2266-2268)Tac>Aac	p.Y756N		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	756	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CCAAACTTGTACTGGTTGTGA	0.478																																					p.Y756N		.											.	MYH7-94	0			c.T2266A						.						126.0	111.0	116.0					14																	23894924		2203	4300	6503	SO:0001583	missense	4625	exon20			ACTTGTACTGGTT	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.2266T>A	14.37:g.23894924A>T	ENSP00000347507:p.Tyr756Asn	106	1		159	61	NM_000257	0	0	0	0	0	A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.562782	0.86335	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.95980	-3.87	4.88	4.88	0.63580	Myosin head, motor domain (2);	.	.	.	.	D	0.98773	0.9587	H	0.99273	4.495	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99320	1.0906	9	0.87932	D	0	.	14.6525	0.68808	1.0:0.0:0.0:0.0	.	756	P12883	MYH7_HUMAN	N	756	ENSP00000347507:Y756N	ENSP00000347507:Y756N	Y	-	1	0	MYH7	22964764	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.765000	0.91724	2.048000	0.60808	0.533000	0.62120	TAC	.		0.478	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257	
RNF31	55072	hgsc.bcm.edu;bcgsc.ca	37	14	24619809	24619809	+	Frame_Shift_Del	DEL	G	G	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:24619809delG	ENST00000324103.6	+	8	1520	c.1200delG	c.(1198-1200)cagfs	p.Q400fs	RP11-468E2.4_ENST00000558468.1_5'Flank|RNF31_ENST00000382687.3_Frame_Shift_Del_p.Q249fs|RNF31_ENST00000559275.1_Frame_Shift_Del_p.Q249fs	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	400	Polyubiquitin-binding.				CD40 signaling pathway (GO:0023035)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		CTTCCCAGCAGGGGGATGCTT	0.517																																					p.Q400fs		.											.	RNF31-90	0			c.1200delG						.						165.0	169.0	167.0					14																	24619809		1947	4146	6093	SO:0001589	frameshift_variant	55072	exon8			CCAGCAGGGGGAT	AK000973	CCDS41931.1	14q11.2	2012-09-20			ENSG00000092098	ENSG00000092098		"""RING-type (C3HC4) zinc fingers"""	16031	protein-coding gene	gene with protein product	"""HOIL-1-interacting protein"""	612487				10422847	Standard	NM_017999		Approved	ZIBRA, FLJ10111, FLJ23501, HOIP	uc001wmn.1	Q96EP0	OTTHUMG00000028798	ENST00000324103.6:c.1200delG	14.37:g.24619809delG	ENSP00000315112:p.Gln400fs	115	1		146	65	NM_017999	0	0	0	0	0	A0A962|Q86VI2|Q8TEI0|Q96GB4|Q96NF1|Q9H5F1|Q9NWD2	Frame_Shift_Del	DEL	ENST00000324103.6	37	CCDS41931.1																																																																																			.		0.517	RNF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071921.3	NM_017999	
TM9SF1	10548	bcgsc.ca	37	14	24662159	24662159	+	Missense_Mutation	SNP	C	C	T	rs201569838		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:24662159C>T	ENST00000261789.4	-	3	1020	c.662G>A	c.(661-663)cGt>cAt	p.R221H	TM9SF1_ENST00000556387.1_Missense_Mutation_p.R430H|TM9SF1_ENST00000524835.1_Missense_Mutation_p.R134H|TM9SF1_ENST00000530611.1_Missense_Mutation_p.R430H|TM9SF1_ENST00000528669.1_Missense_Mutation_p.R221H|RP11-468E2.2_ENST00000561419.1_5'Flank|TM9SF1_ENST00000396854.4_Missense_Mutation_p.R221H	NM_006405.5	NP_006396.2	O15321	TM9S1_HUMAN	transmembrane 9 superfamily member 1	221					autophagy (GO:0006914)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)				NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24				GBM - Glioblastoma multiforme(265;0.0183)		ATCGTCACCACGGCGCCTGTC	0.522																																					p.R221H		.											.	TM9SF1-91	0			c.G662A						.						104.0	90.0	95.0					14																	24662159		2203	4300	6503	SO:0001583	missense	10548	exon3			TCACCACGGCGCC	U94831	CCDS9617.1, CCDS41934.1, CCDS73623.1	14q11.2	2005-10-11			ENSG00000100926	ENSG00000100926			11864	protein-coding gene	gene with protein product						9332367	Standard	NM_006405		Approved	MP70, HMP70	uc010tob.1	O15321	OTTHUMG00000029322	ENST00000261789.4:c.662G>A	14.37:g.24662159C>T	ENSP00000261789:p.Arg221His	206	3		288	152	NM_001014842	0	1	72	159	86	D3DS65|Q86SZ6|Q96FI8	Missense_Mutation	SNP	ENST00000261789.4	37	CCDS9617.1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.035770	0.35893	.	.	ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000254692	ENST00000261789;ENST00000528669;ENST00000556387;ENST00000524835;ENST00000396854;ENST00000528895;ENST00000530563;ENST00000530468;ENST00000525592;ENST00000530611	T;T;T;T;T;T;T;T;T;T	0.70399	-0.48;-0.48;-0.48;-0.48;-0.48;-0.48;-0.48;-0.48;-0.48;-0.48	5.1	2.12	0.27331	.	0.193921	0.44097	N	0.000497	T	0.54319	0.1851	L	0.29908	0.895	0.53005	D	0.999969	B;B;B	0.29481	0.245;0.004;0.001	B;B;B	0.27715	0.082;0.005;0.004	T	0.52223	-0.8604	10	0.51188	T	0.08	-7.15	8.3961	0.32557	0.0:0.7194:0.0:0.2806	.	221;221;221	E9PJM1;Q86SZ6;O15321	.;.;TM9S1_HUMAN	H	221;221;430;134;221;221;134;221;221;430	ENSP00000261789:R221H;ENSP00000432997:R221H;ENSP00000451949:R430H;ENSP00000434387:R134H;ENSP00000380063:R221H;ENSP00000431447:R221H;ENSP00000437127:R134H;ENSP00000435857:R221H;ENSP00000432435:R221H;ENSP00000433967:R430H	ENSP00000433967:R430H	R	-	2	0	TM9SF1;RP11-468E2.1	23731999	1.000000	0.71417	0.997000	0.53966	0.943000	0.58893	3.225000	0.51246	0.753000	0.32945	-0.126000	0.14955	CGT	C|0.999;T|0.001		0.522	TM9SF1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000073136.2	NM_006405	
TGM1	7051	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	24718579	24718579	+	Silent	SNP	G	G	A	rs201811993	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:24718579G>A	ENST00000206765.6	-	15	2517	c.2394C>T	c.(2392-2394)gaC>gaT	p.D798D	TGM1_ENST00000544573.1_Silent_p.D356D	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	798					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|organ morphogenesis (GO:0009887)|peptide cross-linking (GO:0018149)	cell-cell adherens junction (GO:0005913)|cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|intrinsic component of membrane (GO:0031224)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	CACCTCCAGCGTCTGAGAAGA	0.602													G|||	3	0.000599042	0.0	0.0014	5008	,	,		18921	0.0		0.001	False		,,,				2504	0.001				p.D798D		.											.	TGM1-91	0			c.C2394T						.						71.0	68.0	69.0					14																	24718579		2203	4300	6503	SO:0001819	synonymous_variant	7051	exon15			TCCAGCGTCTGAG	D90287	CCDS9622.1	14q11.2	2013-05-02	2013-05-02		ENSG00000092295	ENSG00000092295	2.3.2.13	"""Transglutaminases"""	11777	protein-coding gene	gene with protein product	"""K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase"""	190195	"""transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)"""	ICR2		11390390	Standard	NM_000359		Approved	TGASE, TGK, LI, LI1	uc001wod.3	P22735	OTTHUMG00000029329	ENST00000206765.6:c.2394C>T	14.37:g.24718579G>A		63	0		104	54	NM_000359	0	0	2	4	2	B4DWR7|Q197M4	Silent	SNP	ENST00000206765.6	37	CCDS9622.1																																																																																			G|0.999;A|0.000		0.602	TGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073160.6	NM_000359	
ADCY4	196883	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	24801000	24801000	+	Silent	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:24801000C>T	ENST00000310677.4	-	5	776	c.663G>A	c.(661-663)aaG>aaA	p.K221K	ADCY4_ENST00000418030.2_Silent_p.K221K|ADCY4_ENST00000554068.2_Silent_p.K221K|ADCY4_ENST00000558563.1_5'Flank|ADCY4_ENST00000396747.3_5'UTR	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	221					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)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		TGACCTGGTGCTTCTTCTCGG	0.637																																					p.K221K		.											.	ADCY4-93	0			c.G663A						.						23.0	25.0	25.0					14																	24801000		2203	4300	6503	SO:0001819	synonymous_variant	196883	exon5			CTGGTGCTTCTTC	AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"""Adenylate cyclases"""	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.663G>A	14.37:g.24801000C>T		64	0		118	44	NM_001198592	0	0	0	0	0	B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Silent	SNP	ENST00000310677.4	37	CCDS9627.1																																																																																			.		0.637	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4		
PPP2R3C	55012	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	14	35585883	35585883	+	Missense_Mutation	SNP	G	G	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:35585883G>C	ENST00000261475.5	-	2	472	c.119C>G	c.(118-120)tCc>tGc	p.S40C	PPP2R3C_ENST00000555644.1_Missense_Mutation_p.S40C	NM_017917.2	NP_060387.2	Q969Q6	P2R3C_HUMAN	protein phosphatase 2, regulatory subunit B'', gamma	40					activation of protein kinase activity (GO:0032147)|B cell homeostasis (GO:0001782)|positive regulation of B cell differentiation (GO:0045579)|regulation of antimicrobial humoral response (GO:0002759)|regulation of mitochondrial depolarization (GO:0051900)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)	15	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;8.62e-06)|LUAD - Lung adenocarcinoma(48;1.42e-05)|Epithelial(34;0.0177)|all cancers(34;0.0491)	GBM - Glioblastoma multiforme(112;0.0803)		TTTCCATTCGGAGTAATATTT	0.313																																					p.S40C		.											.	PPP2R3C-227	0			c.C119G						.						78.0	80.0	79.0					14																	35585883		2202	4299	6501	SO:0001583	missense	55012	exon2			CATTCGGAGTAAT	AK000651	CCDS9654.1	14q13.2	2010-06-18	2010-06-18	2007-01-22	ENSG00000092020	ENSG00000092020		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	17485	protein-coding gene	gene with protein product		615902	"""chromosome 14 open reading frame 10"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B'', gamma"""	C14orf10		12167160, 16129705	Standard	NM_017917		Approved	FLJ20644, G4-1, G5PR	uc001wss.3	Q969Q6	OTTHUMG00000140224	ENST00000261475.5:c.119C>G	14.37:g.35585883G>C	ENSP00000261475:p.Ser40Cys	26	0		41	9	NM_017917	0	0	9	16	7	B4DEN7|D3DS97|D3DS98|Q5GJ55|Q5GJ56|Q6P4G2|Q86TZ3|Q9NWR9	Missense_Mutation	SNP	ENST00000261475.5	37	CCDS9654.1	.	.	.	.	.	.	.	.	.	.	G	14.04	2.416505	0.42918	.	.	ENSG00000092020	ENST00000261475;ENST00000554361;ENST00000555644;ENST00000557278	T	0.45668	0.89	5.29	5.29	0.74685	.	0.168304	0.51477	D	0.000093	T	0.34308	0.0893	N	0.12182	0.205	0.33712	D	0.615896	P;B;B	0.45827	0.867;0.007;0.0	P;B;B	0.50378	0.639;0.004;0.001	T	0.49143	-0.8970	10	0.54805	T	0.06	-5.8159	10.5222	0.44924	0.1197:0.0:0.8803:0.0	.	40;40;40	G3V2K1;Q86US5;Q969Q6	.;.;P2R3C_HUMAN	C	40	ENSP00000450716:S40C	ENSP00000261475:S40C	S	-	2	0	PPP2R3C	34655634	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	4.824000	0.62701	2.620000	0.88729	0.561000	0.74099	TCC	.		0.313	PPP2R3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276687.1	NM_017917	
PAX9	5083	ucsc.edu;bcgsc.ca	37	14	37135761	37135761	+	Silent	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:37135761C>T	ENST00000361487.6	+	3	951	c.726C>T	c.(724-726)aaC>aaT	p.N242N	PAX9_ENST00000557107.1_3'UTR|PAX9_ENST00000402703.2_Silent_p.N242N|PAX9_ENST00000554201.1_Silent_p.N55N			P55771	PAX9_HUMAN	paired box 9	242					cellular response to growth factor stimulus (GO:0071363)|endoderm development (GO:0007492)|face morphogenesis (GO:0060325)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|regulation of odontogenesis (GO:0042481)	nucleus (GO:0005634)	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)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(3)	12	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)		ACGCGGTGAACGGGTTGGAGA	0.687																																					p.N242N		.											.	PAX9-228	0			c.C726T						.						23.0	14.0	17.0					14																	37135761		2178	4278	6456	SO:0001819	synonymous_variant	5083	exon4			GGTGAACGGGTTG	AJ238381	CCDS9662.1	14q13.3	2007-07-12	2007-07-12		ENSG00000198807	ENSG00000198807		"""Paired boxes"""	8623	protein-coding gene	gene with protein product		167416	"""paired box gene 9"""			7981748	Standard	NM_006194		Approved		uc001wty.4	P55771	OTTHUMG00000140251	ENST00000361487.6:c.726C>T	14.37:g.37135761C>T		197	2		311	126	NM_006194	0	0	0	0	0	Q99582|Q9UQR4	Silent	SNP	ENST00000361487.6	37	CCDS9662.1																																																																																			.		0.687	PAX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276733.2		
FANCM	57697	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	45644600	45644600	+	Silent	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:45644600C>T	ENST00000267430.5	+	14	2728	c.2643C>T	c.(2641-2643)gaC>gaT	p.D881D	FANCM_ENST00000542564.2_Silent_p.D855D	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	881					DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TAGATAATGACAGAAATTCCA	0.269								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																												p.D881D		.											.	FANCM-569	0			c.C2643T						.						48.0	56.0	53.0					14																	45644600		2198	4288	6486	SO:0001819	synonymous_variant	57697	exon14	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	TAATGACAGAAAT	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.2643C>T	14.37:g.45644600C>T		40	0		37	13	NM_020937	0	0	2	2	0	B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Silent	SNP	ENST00000267430.5	37	CCDS32070.1																																																																																			.		0.269	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128	
FANCM	57697	broad.mit.edu;ucsc.edu;bcgsc.ca	37	14	45654431	45654431	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:45654431G>A	ENST00000267430.5	+	18	4612	c.4527G>A	c.(4525-4527)agG>agA	p.R1509R	FANCM_ENST00000555013.1_3'UTR|FANCM_ENST00000542564.2_Silent_p.R1483R	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1509					DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						ATGTAGCTAGGAAGTTTTTAG	0.303								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																												p.R1509R		.											.	FANCM-569	0			c.G4527A						.						56.0	60.0	59.0					14																	45654431		2203	4294	6497	SO:0001819	synonymous_variant	57697	exon18	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AGCTAGGAAGTTT	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.4527G>A	14.37:g.45654431G>A		229	2		221	92	NM_020937	0	0	0	0	0	B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Silent	SNP	ENST00000267430.5	37	CCDS32070.1	.	.	.	.	.	.	.	.	.	.	G	8.708	0.911431	0.17833	.	.	ENSG00000187790	ENST00000554809	.	.	.	5.77	2.98	0.34508	.	.	.	.	.	T	0.58352	0.2116	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51156	-0.8741	4	.	.	.	.	9.0299	0.36252	0.302:0.0:0.698:0.0	.	.	.	.	K	442	.	.	E	+	1	0	FANCM	44724181	0.991000	0.36638	0.996000	0.52242	0.982000	0.71751	0.226000	0.17776	0.369000	0.24510	0.650000	0.86243	GAA	.		0.303	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128	
FRMD6	122786	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	52182163	52182163	+	Missense_Mutation	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:52182163T>C	ENST00000344768.5	+	10	1166	c.970T>C	c.(970-972)Tat>Cat	p.Y324H	FRMD6_ENST00000553556.1_5'Flank|FRMD6_ENST00000356218.4_Missense_Mutation_p.Y316H|FRMD6_ENST00000395718.2_Missense_Mutation_p.Y316H|FRMD6_ENST00000554167.1_Missense_Mutation_p.Y247H			Q96NE9	FRMD6_HUMAN	FERM domain containing 6	324	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				apical constriction (GO:0003383)|cellular protein localization (GO:0034613)|regulation of actin filament-based process (GO:0032970)	apical junction complex (GO:0043296)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					CCACCGCCTCTATATGAATCT	0.562																																					p.Y324H		.											.	FRMD6-524	0			c.T970C						.						59.0	63.0	61.0					14																	52182163		2203	4300	6503	SO:0001583	missense	122786	exon10			CGCCTCTATATGA	BI465118	CCDS9704.1, CCDS58318.1, CCDS58319.1	14q22.1	2011-06-22	2005-07-20	2005-07-20	ENSG00000139926	ENSG00000139926			19839	protein-coding gene	gene with protein product	"""expanded homolog"""	614555	"""chromosome 14 open reading frame 31"""	C14orf31			Standard	NM_152330		Approved	MGC17921, willin, EX1	uc001wzd.3	Q96NE9	OTTHUMG00000140294	ENST00000344768.5:c.970T>C	14.37:g.52182163T>C	ENSP00000343899:p.Tyr324His	79	0		88	41	NM_001267046	0	0	0	1	1	D3DSB9|Q5HYF2|Q8N2X1|Q8WUH7	Missense_Mutation	SNP	ENST00000344768.5	37	CCDS58318.1	.	.	.	.	.	.	.	.	.	.	T	14.51	2.556421	0.45487	.	.	ENSG00000139926	ENST00000356218;ENST00000395718;ENST00000344768;ENST00000554167;ENST00000555197	D;D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95;-1.95	6.02	6.02	0.97574	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.73063	0.3539	N	0.05031	-0.125	0.80722	D	1	B;B;B	0.24258	0.082;0.1;0.02	B;B;B	0.28305	0.036;0.088;0.053	T	0.69964	-0.5002	10	0.33141	T	0.24	.	15.1157	0.72401	0.0:0.0:0.0:1.0	.	247;324;316	G3V4T7;Q96NE9;Q96NE9-2	.;FRMD6_HUMAN;.	H	316;316;324;247;54	ENSP00000348550:Y316H;ENSP00000379068:Y316H;ENSP00000343899:Y324H;ENSP00000451977:Y247H;ENSP00000451157:Y54H	ENSP00000343899:Y324H	Y	+	1	0	FRMD6	51251913	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.040000	0.89188	2.311000	0.77944	0.533000	0.62120	TAT	.		0.562	FRMD6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276881.1	NM_152330	
NID2	22795	broad.mit.edu	37	14	52478281	52478281	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:52478281C>T	ENST00000216286.5	-	17	3540	c.3541G>A	c.(3541-3543)Gtg>Atg	p.V1181M	NID2_ENST00000541773.1_Missense_Mutation_p.V1080M	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	1181					basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					CCTGAATTCACGATCGTCTCA	0.507																																					p.V1181M		.											.	NID2-158	0			c.G3541A						.						130.0	107.0	115.0					14																	52478281		2203	4300	6503	SO:0001583	missense	22795	exon17			AATTCACGATCGT	AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.3541G>A	14.37:g.52478281C>T	ENSP00000216286:p.Val1181Met	76	0		139	5	NM_007361	0	0	0	0	0	A8K6I7|B4DU19|O43710	Missense_Mutation	SNP	ENST00000216286.5	37	CCDS9706.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.59|14.59	2.580361|2.580361	0.46006|0.46006	.|.	.|.	ENSG00000087303|ENSG00000087303	ENST00000556572|ENST00000216286;ENST00000316204;ENST00000541773	.|T;T	.|0.32272	.|1.46;1.46	5.79|5.79	0.792|0.792	0.18625|0.18625	.|Six-bladed beta-propeller, TolB-like (1);	.|0.403964	.|0.30126	.|N	.|0.010349	T|T	0.35941|0.35941	0.0949|0.0949	M|M	0.65320|0.65320	2|2	0.24283|0.24283	N|N	0.995197|0.995197	.|D;P;D	.|0.58620	.|0.983;0.951;0.975	.|P;P;P	.|0.53988	.|0.739;0.681;0.714	T|T	0.16837|0.16837	-1.0389|-1.0389	5|10	.|0.49607	.|T	.|0.09	.|.	4.6383|4.6383	0.12536|0.12536	0.1301:0.2309:0.0:0.639|0.1301:0.2309:0.0:0.639	.|.	.|775;1080;1181	.|E7EPP3;Q14112-2;Q14112	.|.;.;NID2_HUMAN	H|M	449|1181;775;1080	.|ENSP00000216286:V1181M;ENSP00000443730:V1080M	.|ENSP00000216286:V1181M	R|V	-|-	2|1	0|0	NID2|NID2	51548031|51548031	1.000000|1.000000	0.71417|0.71417	0.001000|0.001000	0.08648|0.08648	0.235000|0.235000	0.25334|0.25334	2.115000|2.115000	0.41921|0.41921	-0.091000|-0.091000	0.12440|0.12440	0.563000|0.563000	0.77884|0.77884	CGT|GTG	.		0.507	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1		
SAMD4A	23034	hgsc.bcm.edu	37	14	55034812	55034812	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:55034812C>T	ENST00000554335.1	+	2	841	c.178C>T	c.(178-180)Cgc>Tgc	p.R60C	SAMD4A_ENST00000555112.1_3'UTR|SAMD4A_ENST00000251091.5_Missense_Mutation_p.R60C|SAMD4A_ENST00000357634.3_Missense_Mutation_p.R59C|SAMD4A_ENST00000392067.3_Missense_Mutation_p.R60C			Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	60					negative regulation of translation (GO:0017148)|positive regulation of translation (GO:0045727)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|synapse (GO:0045202)	poly(A) RNA binding (GO:0044822)|translation repressor activity (GO:0030371)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						CGTCCTCGAACGCGAGGCCAA	0.736																																					p.R60C		.											.	SAMD4A-90	0			c.C178T						.						11.0	12.0	12.0					14																	55034812		2185	4289	6474	SO:0001583	missense	23034	exon1			CTCGAACGCGAGG	AB028976	CCDS32084.1, CCDS55917.1, CCDS55918.1, CCDS32084.2, CCDS55917.2	14q22.2	2013-01-10	2006-01-27	2006-01-27	ENSG00000020577	ENSG00000020577		"""Sterile alpha motif (SAM) domain containing"""	23023	protein-coding gene	gene with protein product	"""smaug homolog (Drosophila)"""	610747	"""sterile alpha motif domain containing 4"""	SAMD4		16221671	Standard	NM_001161577		Approved	KIAA1053, DKFZP434H0350, Smaug, SMG, SMGA, hSmaug1	uc001xbb.4	Q9UPU9	OTTHUMG00000170999	ENST00000554335.1:c.178C>T	14.37:g.55034812C>T	ENSP00000452535:p.Arg60Cys	4	0		20	9	NM_015589	0	0	3	6	3	A8MPZ5|Q0VA96|Q6PEW4	Missense_Mutation	SNP	ENST00000554335.1	37	CCDS32084.2	.	.	.	.	.	.	.	.	.	.	C	15.11	2.735061	0.48939	.	.	ENSG00000020577	ENST00000554335;ENST00000392067;ENST00000305831;ENST00000251091;ENST00000357634	T;T;T	0.74106	-0.81;-0.81;-0.81	5.4	4.5	0.54988	.	0.069747	0.56097	D	0.000038	T	0.60637	0.2284	L	0.39898	1.24	0.33253	D	0.558785	B;P	0.44260	0.004;0.83	B;B	0.33521	0.0;0.165	T	0.72087	-0.4396	10	0.52906	T	0.07	-6.5991	10.3548	0.43958	0.074:0.1419:0.7841:0.0	.	60;60	Q9UPU9-3;Q9UPU9	.;SMAG1_HUMAN	C	60;60;60;59;59	ENSP00000452535:R60C;ENSP00000375919:R60C;ENSP00000350261:R59C	ENSP00000306381:R60C	R	+	1	0	SAMD4A	54104562	1.000000	0.71417	0.998000	0.56505	0.795000	0.44927	4.558000	0.60789	1.273000	0.44346	-0.344000	0.07964	CGC	.		0.736	SAMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000411186.1	NM_015589	
KTN1	3895	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	14	56103915	56103915	+	Splice_Site	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:56103915G>A	ENST00000395314.3	+	11	1617		c.e11-1		KTN1_ENST00000395309.3_Splice_Site|KTN1_ENST00000395311.1_Splice_Site|KTN1_ENST00000438792.2_Splice_Site|KTN1_ENST00000413890.2_Splice_Site|KTN1_ENST00000395308.1_Splice_Site|KTN1_ENST00000416613.1_Splice_Site	NM_001079521.1	NP_001072989.1	Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)						microtubule-based movement (GO:0007018)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						TTTTATTACAGATTTACAGAG	0.358			T	RET	papillary thryoid																																.		.		Dom	yes		14	14q22.1	3895	kinectin 1 (kinesin receptor)		E	.	KTN1-1147	0			c.1550-1G>A						.						57.0	60.0	59.0					14																	56103915		2202	4299	6501	SO:0001630	splice_region_variant	3895	exon11			ATTACAGATTTAC		CCDS41957.1, CCDS41958.1, CCDS41959.1	14q22.1	2008-05-02			ENSG00000126777	ENSG00000126777			6467	protein-coding gene	gene with protein product		600381				9605849	Standard	NM_001079521		Approved	KIAA0004, CG1	uc001xcc.3	Q86UP2	OTTHUMG00000140312	ENST00000395314.3:c.1550-1G>A	14.37:g.56103915G>A		169	0		202	79	NM_001079521	0	0	0	0	0	B4DZ88|Q13999|Q14707|Q15387|Q17RZ5|Q5GGW3|Q86W57	Splice_Site	SNP	ENST00000395314.3	37	CCDS41957.1	.	.	.	.	.	.	.	.	.	.	G	16.23	3.065564	0.55539	.	.	ENSG00000126777	ENST00000413890;ENST00000395309;ENST00000438792;ENST00000395314;ENST00000395308;ENST00000395311;ENST00000416613	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0978	0.93260	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KTN1	55173668	1.000000	0.71417	1.000000	0.80357	0.595000	0.36748	7.466000	0.80914	2.585000	0.87301	0.609000	0.83330	.	.		0.358	KTN1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276912.2		Intron
SGPP1	81537	broad.mit.edu;mdanderson.org	37	14	64194307	64194307	+	Missense_Mutation	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:64194307T>C	ENST00000247225.6	-	1	450	c.356A>G	c.(355-357)cAg>cGg	p.Q119R		NM_030791.2	NP_110418.1	Q9BX95	SGPP1_HUMAN	sphingosine-1-phosphate phosphatase 1	119					extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway (GO:0097193)|small molecule metabolic process (GO:0044281)|sphinganine-1-phosphate metabolic process (GO:0006668)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	sphingosine-1-phosphate phosphatase activity (GO:0042392)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	10				OV - Ovarian serous cystadenocarcinoma(108;0.0056)|all cancers(60;0.0141)|BRCA - Breast invasive adenocarcinoma(234;0.103)		GCGGGCCAGCTGGCCCTCCTC	0.706																																					p.Q119R		.											.	SGPP1-90	0			c.A356G						.						30.0	34.0	33.0					14																	64194307		2189	4297	6486	SO:0001583	missense	81537	exon1			GCCAGCTGGCCCT	AJ293294	CCDS9760.1	14q23.1	2003-09-17			ENSG00000126821	ENSG00000126821			17720	protein-coding gene	gene with protein product		612826				10859351	Standard	NM_030791		Approved		uc001xgj.3	Q9BX95	OTTHUMG00000029080	ENST00000247225.6:c.356A>G	14.37:g.64194307T>C	ENSP00000247225:p.Gln119Arg	17	0		23	11	NM_030791	0	0	6	7	1	B2RAH0|Q9H189	Missense_Mutation	SNP	ENST00000247225.6	37	CCDS9760.1	.	.	.	.	.	.	.	.	.	.	T	17.06	3.291717	0.59976	.	.	ENSG00000126821	ENST00000247225	T	0.21734	1.99	4.47	2.12	0.27331	.	0.484707	0.21636	N	0.071419	T	0.16896	0.0406	L	0.57536	1.79	0.33375	D	0.574146	B	0.27559	0.181	B	0.26864	0.074	T	0.17745	-1.0359	10	0.15499	T	0.54	-4.6024	6.5436	0.22394	0.0:0.2104:0.0:0.7896	.	119	Q9BX95	SGPP1_HUMAN	R	119	ENSP00000247225:Q119R	ENSP00000247225:Q119R	Q	-	2	0	SGPP1	63264060	1.000000	0.71417	0.477000	0.27303	0.815000	0.46073	6.088000	0.71371	0.575000	0.29434	0.254000	0.18369	CAG	.		0.706	SGPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072626.3	NM_030791	
SYNE2	23224	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	64644145	64644145	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:64644145G>A	ENST00000344113.4	+	96	17712	c.17500G>A	c.(17500-17502)Gaa>Aaa	p.E5834K	SYNE2_ENST00000555002.1_Missense_Mutation_p.E2468K|SYNE2_ENST00000358025.3_Missense_Mutation_p.E5834K|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000357395.3_Missense_Mutation_p.E2219K|SYNE2_ENST00000394768.2_Missense_Mutation_p.E2219K|SYNE2_ENST00000554584.1_Missense_Mutation_p.E5699K	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5834					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GGCACAAAGTGAAGATCCTCT	0.393																																					p.E5834K		.											.	SYNE2-164	0			c.G17500A						.						87.0	89.0	88.0					14																	64644145		2203	4300	6503	SO:0001583	missense	23224	exon96			CAAAGTGAAGATC	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.17500G>A	14.37:g.64644145G>A	ENSP00000341781:p.Glu5834Lys	180	0		209	91	NM_182914	0	0	12	18	6	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	6.965	0.547981	0.13312	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.76709	-0.94;-0.94;-0.94;-1.04;-0.94;-0.94	6.07	1.09	0.20402	.	0.534185	0.18052	N	0.153254	T	0.43255	0.1239	N	0.01188	-0.97	0.42936	D	0.994338	B;B;B;B;B	0.06786	0.0;0.0;0.0;0.0;0.001	B;B;B;B;B	0.04013	0.001;0.0;0.0;0.001;0.001	T	0.09250	-1.0683	10	0.12430	T	0.62	.	6.1729	0.20427	0.6757:0.1244:0.1999:0.0	.	2219;222;5699;5834;5834	Q8WXH0-7;Q7Z362;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;.;SYNE2_HUMAN;.	K	5834;2219;5834;5699;5705;2468;2219	ENSP00000350719:E5834K;ENSP00000349969:E2219K;ENSP00000341781:E5834K;ENSP00000452570:E5699K;ENSP00000450831:E2468K;ENSP00000378249:E2219K	ENSP00000261678:E5705K	E	+	1	0	SYNE2	63713898	0.454000	0.25728	0.023000	0.16930	0.977000	0.68977	0.562000	0.23531	-0.047000	0.13423	-0.312000	0.09012	GAA	.		0.393	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914	
HSPA2	3306	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	65009141	65009141	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:65009141C>T	ENST00000394709.1	+	2	1650	c.1574C>T	c.(1573-1575)gCg>gTg	p.A525V	HSPA2_ENST00000247207.6_Missense_Mutation_p.A525V|RP11-973N13.4_ENST00000554918.1_RNA			P54652	HSP72_HUMAN	heat shock 70kDa protein 2	525					male meiosis (GO:0007140)|male meiosis I (GO:0007141)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G2/M transition of mitotic cell cycle (GO:0031662)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)|spermatid development (GO:0007286)|synaptonemal complex disassembly (GO:0070194)	blood microparticle (GO:0072562)|CatSper complex (GO:0036128)|cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycolipid binding (GO:0051861)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		GTGCAGGAGGCGGAGCGGTAC	0.552																																					p.A525V	Pancreas(136;1211 1835 24894 31984 38227)	.											.	HSPA2-226	0			c.C1574T						.						75.0	78.0	77.0					14																	65009141		2203	4300	6503	SO:0001583	missense	3306	exon1			AGGAGGCGGAGCG	L26336, BC001752	CCDS9766.1	14q23	2012-10-02	2002-08-29		ENSG00000126803	ENSG00000126803		"""Heat shock proteins / HSP70"""	5235	protein-coding gene	gene with protein product		140560	"""heat shock 70kD protein 2"""				Standard	NM_021979		Approved		uc001xhk.4	P54652	OTTHUMG00000141311	ENST00000394709.1:c.1574C>T	14.37:g.65009141C>T	ENSP00000378199:p.Ala525Val	125	0		151	61	NM_021979	0	0	22	40	18	Q15508|Q53XM3|Q9UE78	Missense_Mutation	SNP	ENST00000394709.1	37	CCDS9766.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.537748	0.85917	.	.	ENSG00000126803	ENST00000394709;ENST00000247207;ENST00000545222	T;T	0.04862	3.54;3.54	5.31	5.31	0.75309	.	0.000000	0.53938	U	0.000049	T	0.44393	0.1291	H	0.98721	4.31	0.53688	D	0.999973	D	0.89917	1.0	D	0.68192	0.956	T	0.69213	-0.5204	10	0.87932	D	0	3.011	19.05	0.93039	0.0:1.0:0.0:0.0	.	525	P54652	HSP72_HUMAN	V	525;525;299	ENSP00000378199:A525V;ENSP00000247207:A525V	ENSP00000247207:A525V	A	+	2	0	HSPA2	64078894	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	7.818000	0.86416	2.502000	0.84385	0.558000	0.71614	GCG	.		0.552	HSPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280651.1		
SPTB	6710	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	65249147	65249147	+	Nonsense_Mutation	SNP	G	G	T	rs200559187	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:65249147G>T	ENST00000389721.5	-	19	4159	c.4127C>A	c.(4126-4128)tCg>tAg	p.S1376*	SPTB_ENST00000542895.1_Nonsense_Mutation_p.S1376*|SPTB_ENST00000389720.3_Nonsense_Mutation_p.S1376*|SPTB_ENST00000556626.1_Nonsense_Mutation_p.S1376*|SPTB_ENST00000389722.3_Nonsense_Mutation_p.S1376*	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1376					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CCTGGCAGCCGAGAGGTGCTG	0.632																																					p.S1376X		.											.	SPTB-100	0			c.C4127A						.						96.0	94.0	95.0					14																	65249147		2203	4300	6503	SO:0001587	stop_gained	6710	exon19			GCAGCCGAGAGGT		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.4127C>A	14.37:g.65249147G>T	ENSP00000374371:p.Ser1376*	74	0		148	77	NM_000347	0	0	0	0	0	Q15510|Q15519	Nonsense_Mutation	SNP	ENST00000389721.5	37	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	G	43	10.040557	0.99323	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000335612;ENST00000553938;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	.	.	.	5.36	3.15	0.36227	.	0.125530	0.53938	D	0.000042	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	4.9468	0.13993	0.394:0.0:0.606:0.0	.	.	.	.	X	1380;1376;160;41;1376;1376;1376;1376	.	ENSP00000334218:S160X	S	-	2	0	SPTB	64318900	1.000000	0.71417	0.490000	0.27465	0.494000	0.33585	5.474000	0.66781	1.414000	0.47017	0.462000	0.41574	TCG	G|0.999;A|0.000		0.632	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1		
SPTB	6710	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	65263322	65263322	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:65263322C>T	ENST00000389721.5	-	10	1326	c.1294G>A	c.(1294-1296)Gca>Aca	p.A432T	SPTB_ENST00000542895.1_Missense_Mutation_p.A432T|SPTB_ENST00000389720.3_Missense_Mutation_p.A432T|SPTB_ENST00000556626.1_Missense_Mutation_p.A432T|SPTB_ENST00000389722.3_Missense_Mutation_p.A432T	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	432					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TCTCTCATTGCGGCCTTCCGG	0.597																																					p.A432T		.											.	SPTB-100	0			c.G1294A						.						70.0	70.0	70.0					14																	65263322		2203	4300	6503	SO:0001583	missense	6710	exon10			TCATTGCGGCCTT		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.1294G>A	14.37:g.65263322C>T	ENSP00000374371:p.Ala432Thr	73	0		100	43	NM_000347	0	0	0	0	0	Q15510|Q15519	Missense_Mutation	SNP	ENST00000389721.5	37	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.475829	0.84640	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.57504	0.2058	L	0.46670	1.46	0.80722	D	1	P;D	0.60575	0.884;0.988	P;P	0.54238	0.529;0.746	T	0.56679	-0.7939	10	0.56958	D	0.05	.	18.8548	0.92247	0.0:1.0:0.0:0.0	.	432;436	P11277;Q59FP5	SPTB1_HUMAN;.	T	436;432;432;432;432;432	ENSP00000374372:A432T;ENSP00000451752:A432T;ENSP00000374371:A432T;ENSP00000443882:A432T;ENSP00000374370:A432T	ENSP00000374370:A432T	A	-	1	0	SPTB	64333075	1.000000	0.71417	0.149000	0.22428	0.902000	0.53008	6.043000	0.71004	2.756000	0.94617	0.655000	0.94253	GCA	.		0.597	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1		
MPP5	64398	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	67768822	67768822	+	Missense_Mutation	SNP	G	G	A	rs75595607	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:67768822G>A	ENST00000261681.4	+	6	1449	c.788G>A	c.(787-789)cGt>cAt	p.R263H	MPP5_ENST00000555925.1_Missense_Mutation_p.R229H	NM_022474.3	NP_071919.2	Q8N3R9	MPP5_HUMAN	membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)	263	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|establishment of protein localization to plasma membrane (GO:0090002)|morphogenesis of an epithelial sheet (GO:0002011)|myelin assembly (GO:0032288)|peripheral nervous system myelin maintenance (GO:0032287)|protein localization to myelin sheath abaxonal region (GO:0035750)|tight junction assembly (GO:0070830)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lateral loop (GO:0043219)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	18				all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)		GAAAAGGCTCGTGATATTCCG	0.378													G|||	2	0.000399361	0.0	0.0	5008	,	,		14486	0.002		0.0	False		,,,				2504	0.0				p.R263H		.											.	MPP5-91	0			c.G788A						.						125.0	129.0	128.0					14																	67768822		2203	4300	6503	SO:0001583	missense	64398	exon6			AGGCTCGTGATAT	AK022677	CCDS9779.1, CCDS58325.1	14q23.3	2008-08-11				ENSG00000072415			18669	protein-coding gene	gene with protein product	"""stardust"""	606958				11927608	Standard	NM_022474		Approved	PALS1, FLJ12615	uc001xjc.4	Q8N3R9		ENST00000261681.4:c.788G>A	14.37:g.67768822G>A	ENSP00000261681:p.Arg263His	100	1		122	58	NM_022474	0	0	0	0	0	A1L380|Q7Z631|Q86T98|Q8N7I5|Q9H9Q0	Missense_Mutation	SNP	ENST00000261681.4	37	CCDS9779.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	24.5	4.537127	0.85812	.	.	ENSG00000072415	ENST00000261681;ENST00000555925	T;T	0.28069	1.63;1.63	5.47	5.47	0.80525	PDZ/DHR/GLGF (3);	0.228496	0.39687	N	0.001286	T	0.33876	0.0878	N	0.12961	0.28	0.80722	D	1	P	0.44986	0.847	P	0.51974	0.686	T	0.19257	-1.0311	10	0.56958	D	0.05	.	19.3356	0.94316	0.0:0.0:1.0:0.0	.	263	Q8N3R9	MPP5_HUMAN	H	263;229	ENSP00000261681:R263H;ENSP00000451488:R229H	ENSP00000261681:R263H	R	+	2	0	MPP5	66838575	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.484000	0.81180	2.578000	0.87016	0.650000	0.86243	CGT	G|0.999;A|0.001		0.378	MPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412498.1	NM_022474	
ADAM21	8747	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	14	70926261	70926261	+	Frame_Shift_Del	DEL	T	T	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:70926261delT	ENST00000603540.1	+	2	2303	c.2045delT	c.(2044-2046)gttfs	p.V682fs	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Frame_Shift_Del_p.V682fs	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	682					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		AAGAGAGGAGTTTTTTTGCCG	0.493																																					p.V682fs		.											.	ADAM21-92	0			c.2045delT						.						72.0	57.0	62.0					14																	70926261		2203	4300	6503	SO:0001589	frameshift_variant	8747	exon2			GAGGAGTTTTTTT	AF029900	CCDS9804.1	14q24.1	2008-09-05	2005-08-18		ENSG00000139985	ENSG00000139985		"""ADAM metallopeptidase domain containing"""	200	protein-coding gene	gene with protein product		603713	"""a disintegrin and metalloproteinase domain 21"""			9469942	Standard	NM_003813		Approved	ADAM31	uc001xmd.3	Q9UKJ8		ENST00000603540.1:c.2045delT	14.37:g.70926261delT	ENSP00000474385:p.Val682fs	238	0		371	148	NM_003813	0	0	0	0	0	O43507|Q2VPC6|Q32MR0	Frame_Shift_Del	DEL	ENST00000603540.1	37	CCDS9804.1																																																																																			.		0.493	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413008.3		
PCNX	22990	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	71492916	71492916	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:71492916G>A	ENST00000304743.2	+	14	3712	c.3266G>A	c.(3265-3267)aGc>aAc	p.S1089N	PCNX_ENST00000238570.5_Missense_Mutation_p.S1089N|PCNX_ENST00000439984.3_Missense_Mutation_p.S978N	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1089						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GATTATGGTAGCAGAAACCTG	0.368																																					p.S1089N		.											.	PCNX-91	0			c.G3266A						.						128.0	117.0	121.0					14																	71492916		2202	4300	6502	SO:0001583	missense	22990	exon14			ATGGTAGCAGAAA	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.3266G>A	14.37:g.71492916G>A	ENSP00000304192:p.Ser1089Asn	88	1		122	43	NM_014982	0	0	11	35	24	B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	CCDS9806.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.96|19.96	3.924195|3.924195	0.73213|0.73213	.|.	.|.	ENSG00000100731|ENSG00000100731	ENST00000554691|ENST00000304743;ENST00000238570;ENST00000439984	.|T;T;T	.|0.61274	.|0.12;0.12;0.12	5.64|5.64	5.64|5.64	0.86602|0.86602	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.72590|0.72590	0.3479|0.3479	L|L	0.55481|0.55481	1.735|1.735	0.80722|0.80722	D|D	1|1	.|D;D	.|0.63880	.|0.979;0.993	.|P;D	.|0.70227	.|0.69;0.968	T|T	0.68716|0.68716	-0.5335|-0.5335	5|10	.|0.36615	.|T	.|0.2	.|.	19.6932|19.6932	0.96010|0.96010	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|978;1089	.|B2RTR6;Q96RV3	.|.;PCX1_HUMAN	T|N	148|1089;1089;978	.|ENSP00000304192:S1089N;ENSP00000238570:S1089N;ENSP00000396617:S978N	.|ENSP00000238570:S1089N	A|S	+|+	1|2	0|0	PCNX|PCNX	70562669|70562669	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.869000|9.869000	0.99810|0.99810	2.664000|2.664000	0.90586|0.90586	0.655000|0.655000	0.94253|0.94253	GCA|AGC	.		0.368	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982	
ACOT4	122970	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	74061813	74061813	+	Missense_Mutation	SNP	A	A	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:74061813A>C	ENST00000326303.4	+	3	975	c.721A>C	c.(721-723)Atg>Ctg	p.M241L		NM_152331.3	NP_689544.3	Q8N9L9	ACOT4_HUMAN	acyl-CoA thioesterase 4	241					acyl-CoA metabolic process (GO:0006637)|dicarboxylic acid catabolic process (GO:0043649)|dicarboxylic acid metabolic process (GO:0043648)|long-chain fatty acid metabolic process (GO:0001676)|saturated monocarboxylic acid metabolic process (GO:0032788)|short-chain fatty acid metabolic process (GO:0046459)|succinyl-CoA metabolic process (GO:0006104)|unsaturated monocarboxylic acid metabolic process (GO:0032789)|very long-chain fatty acid metabolic process (GO:0000038)	peroxisome (GO:0005777)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)|succinyl-CoA hydrolase activity (GO:0004778)			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(234;0.00331)		TTGTCTCTCAATGGCCTCATT	0.448																																					p.M241L		.											.	ACOT4-90	0			c.A721C						.						91.0	94.0	93.0					14																	74061813		2203	4300	6503	SO:0001583	missense	122970	exon3			CTCTCAATGGCCT	BC031799	CCDS9817.1	14q24.1	2011-02-16			ENSG00000177465	ENSG00000177465		"""Acyl CoA thioesterases"""	19748	protein-coding gene	gene with protein product		614314				16103133, 16940157	Standard	NM_152331		Approved	FLJ31235, PTE-Ib, PTE2B	uc001xoo.3	Q8N9L9	OTTHUMG00000169485	ENST00000326303.4:c.721A>C	14.37:g.74061813A>C	ENSP00000323071:p.Met241Leu	123	1		143	58	NM_152331	0	0	1	3	2	Q17RF4|Q5BKT6|Q86TX0|Q86TX1|Q96N88	Missense_Mutation	SNP	ENST00000326303.4	37	CCDS9817.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.623719	0.87460	.	.	ENSG00000177465	ENST00000326303	T	0.27256	1.68	5.74	5.74	0.90152	BAAT/Acyl-CoA thioester hydrolase C-terminal (1);	0.037216	0.85682	D	0.000000	T	0.49949	0.1587	M	0.70108	2.13	0.80722	D	1	D	0.63046	0.992	D	0.67725	0.953	T	0.50898	-0.8773	10	0.59425	D	0.04	-21.7023	15.6979	0.77515	1.0:0.0:0.0:0.0	.	241	Q8N9L9	ACOT4_HUMAN	L	241	ENSP00000323071:M241L	ENSP00000323071:M241L	M	+	1	0	ACOT4	73131566	1.000000	0.71417	0.923000	0.36655	0.926000	0.56050	5.006000	0.63978	2.196000	0.70406	0.459000	0.35465	ATG	.		0.448	ACOT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404298.2	NM_152331	
TMED10	10972	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	75643179	75643179	+	Missense_Mutation	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:75643179T>C	ENST00000303575.4	-	1	155	c.104A>G	c.(103-105)cAt>cGt	p.H35R		NM_006827.5	NP_006818.3	P49755	TMEDA_HUMAN	transmembrane emp24-like trafficking protein 10 (yeast)	35	Required for interaction with STX17.				beta-amyloid formation (GO:0034205)|cargo loading into vesicle (GO:0035459)|COPI coating of Golgi vesicle (GO:0048205)|COPI-coated vesicle budding (GO:0035964)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|kidney development (GO:0001822)|protein oligomerization (GO:0051259)|regulated secretory pathway (GO:0045055)|response to acid chemical (GO:0001101)|response to alkaloid (GO:0043279)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle targeting, to, from or within Golgi (GO:0048199)	cis-Golgi network (GO:0005801)|COPI-coated vesicle (GO:0030137)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|gamma-secretase complex (GO:0070765)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)|trans-Golgi network transport vesicle (GO:0030140)|zymogen granule membrane (GO:0042589)	syntaxin binding (GO:0019905)			endometrium(1)|large_intestine(5)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(234;0.0126)		AATGGGCAGATGGAAGGAGAT	0.602																																					p.H35R		.											.	TMED10-90	0			c.A104G						.						83.0	83.0	83.0					14																	75643179		2203	4300	6503	SO:0001583	missense	10972	exon1			GGCAGATGGAAGG	AL832012, X97442	CCDS9840.1	14q24.3	2008-08-11			ENSG00000170348	ENSG00000170348			16998	protein-coding gene	gene with protein product		605406				7596406, 8663407	Standard	NM_006827		Approved	TMP21, P24(DELTA)	uc001xrm.1	P49755		ENST00000303575.4:c.104A>G	14.37:g.75643179T>C	ENSP00000303145:p.His35Arg	296	0		417	139	NM_006827	0	0	157	322	165	B2R605|Q15602|Q16536|Q86TC2|Q86TS5	Missense_Mutation	SNP	ENST00000303575.4	37	CCDS9840.1	.	.	.	.	.	.	.	.	.	.	T	18.63	3.665079	0.67700	.	.	ENSG00000170348	ENST00000303575	T	0.16743	2.32	5.15	5.15	0.70609	GOLD (1);	0.252366	0.42053	D	0.000763	T	0.16041	0.0386	L	0.42008	1.315	0.40680	D	0.982292	B	0.17465	0.022	B	0.18263	0.021	T	0.04551	-1.0943	10	0.30854	T	0.27	-4.5716	12.6009	0.56497	0.0:0.0:0.0:1.0	.	35	P49755	TMEDA_HUMAN	R	35	ENSP00000303145:H35R	ENSP00000303145:H35R	H	-	2	0	TMED10	74712932	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	3.140000	0.50585	2.167000	0.68274	0.374000	0.22700	CAT	.		0.602	TMED10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415034.1	NM_006827	
POMT2	29954	hgsc.bcm.edu	37	14	77786922	77786922	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:77786922C>T	ENST00000261534.4	-	1	305	c.103G>A	c.(103-105)Gct>Act	p.A35T	GSTZ1_ENST00000557053.1_5'Flank|GSTZ1_ENST00000393734.1_5'Flank|GSTZ1_ENST00000556627.1_5'Flank|GSTZ1_ENST00000554279.1_5'Flank|GSTZ1_ENST00000557639.1_5'Flank|GSTZ1_ENST00000361389.4_5'Flank|GSTZ1_ENST00000216465.5_5'Flank|GSTZ1_ENST00000349555.3_5'Flank	NM_013382.5	NP_037514.2	Q9UKY4	POMT2_HUMAN	protein-O-mannosyltransferase 2	35						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		ACAGCCTCAGCGGCCACGTCC	0.761																																					p.A35T		.											.	POMT2-91	0			c.G103A						.						7.0	8.0	8.0					14																	77786922		2078	4101	6179	SO:0001583	missense	29954	exon1			CCTCAGCGGCCAC	AF105020	CCDS9857.1	14q24	2014-09-17			ENSG00000009830	ENSG00000009830	2.4.1.109	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	19743	protein-coding gene	gene with protein product		607439				11162531, 12460945	Standard	NM_013382		Approved	LGMD2N	uc001xti.2	Q9UKY4	OTTHUMG00000171556	ENST00000261534.4:c.103G>A	14.37:g.77786922C>T	ENSP00000261534:p.Ala35Thr	0	0		40	25	NM_013382	0	0	0	1	1	Q9NSG6|Q9P1W0|Q9P1W2	Missense_Mutation	SNP	ENST00000261534.4	37	CCDS9857.1	.	.	.	.	.	.	.	.	.	.	C	2.533	-0.307996	0.05458	.	.	ENSG00000009830	ENST00000261534	T	0.77229	-1.08	5.2	-1.4	0.08968	.	1.051530	0.07485	N	0.904549	T	0.50326	0.1609	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24512	-1.0158	10	0.13108	T	0.6	0.2868	1.7352	0.02940	0.1305:0.4392:0.127:0.3033	.	35	Q9UKY4	POMT2_HUMAN	T	35	ENSP00000261534:A35T	ENSP00000261534:A35T	A	-	1	0	POMT2	76856675	0.000000	0.05858	0.005000	0.12908	0.128000	0.20619	-1.807000	0.01734	-0.647000	0.05444	-0.219000	0.12488	GCT	.		0.761	POMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414155.1	NM_013382	
SPTLC2	9517	broad.mit.edu;bcgsc.ca	37	14	78036740	78036740	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:78036740G>A	ENST00000216484.2	-	5	936	c.743C>T	c.(742-744)gCt>gTt	p.A248V		NM_004863.3	NP_004854.1	O15270	SPTC2_HUMAN	serine palmitoyltransferase, long chain base subunit 2	248					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|serine C-palmitoyltransferase complex (GO:0017059)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5)	19			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)	GCCAACAAGAGCAGGAATGTT	0.393																																					p.A248V		.											.	SPTLC2-92	0			c.C743T						.						185.0	169.0	174.0					14																	78036740		2203	4300	6503	SO:0001583	missense	9517	exon5			ACAAGAGCAGGAA	AB011098	CCDS9865.1	14q24.3	2014-09-17			ENSG00000100596	ENSG00000100596	2.3.1.50		11278	protein-coding gene	gene with protein product		605713				8921873, 9363775	Standard	NM_004863		Approved	KIAA0526, LCB2, LCB2A, hLCB2a	uc001xub.3	O15270		ENST00000216484.2:c.743C>T	14.37:g.78036740G>A	ENSP00000216484:p.Ala248Val	48	1		72	33	NM_004863	0	0	0	0	0	Q16685	Missense_Mutation	SNP	ENST00000216484.2	37	CCDS9865.1	.	.	.	.	.	.	.	.	.	.	G	19.28	3.797032	0.70567	.	.	ENSG00000100596	ENST00000216484	D	0.91180	-2.8	5.49	5.49	0.81192	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.89719	0.6796	M	0.62266	1.93	0.80722	D	1	B	0.28026	0.198	B	0.24006	0.05	D	0.86918	0.2065	10	0.46703	T	0.11	-15.5679	19.7445	0.96247	0.0:0.0:1.0:0.0	.	248	O15270	SPTC2_HUMAN	V	248	ENSP00000216484:A248V	ENSP00000216484:A248V	A	-	2	0	SPTLC2	77106493	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.800000	0.85949	2.739000	0.93911	0.655000	0.94253	GCT	.		0.393	SPTLC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414030.1	NM_004863	
DIO2	1734	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	14	80677760	80677760	+	Frame_Shift_Del	DEL	A	A	-	rs148778534		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:80677760delA	ENST00000557010.1	-	3	441	c.56delT	c.(55-57)ttcfs	p.F19fs	DIO2-AS1_ENST00000553979.1_RNA|DIO2_ENST00000555750.1_Frame_Shift_Del_p.F19fs|DIO2_ENST00000422005.3_Frame_Shift_Del_p.F19fs|DIO2_ENST00000438257.4_Frame_Shift_Del_p.F19fs|DIO2_ENST00000557125.1_Intron	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II	19					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|selenocysteine incorporation (GO:0001514)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|thyroid hormone metabolic process (GO:0042403)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	selenium binding (GO:0008430)|thyroxine 5'-deiodinase activity (GO:0004800)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		GCAGTTGGAGAAAAAAACTGG	0.557																																					p.F19fs		.											.	DIO2-22	0			c.56delT						.						35.0	37.0	37.0					14																	80677760		2027	4173	6200	SO:0001589	frameshift_variant	1734	exon1			TTGGAGAAAAAAA	AF007144	CCDS45146.1, CCDS55934.1	14q24.2-q24.3	2014-05-02			ENSG00000211448	ENSG00000211448	1.97.1.10		2884	protein-coding gene	gene with protein product	"""thyroxine deiodinase, type II"", ""deiodonase-2"", ""deiodinase-2"""	601413				8755651, 10343107	Standard	NM_001007023		Approved	TXDI2, SelY	uc021rxb.1	Q92813	OTTHUMG00000171443	ENST00000557010.1:c.56delT	14.37:g.80677760delA	ENSP00000451419:p.Phe19fs	65	0		92	15	NM_001242503	0	0	0	0	0	B9EGK0|G3V315|Q6B0A3|Q9HCP8|Q9P1W4|Q9UDZ1	Frame_Shift_Del	DEL	ENST00000557010.1	37	CCDS45146.1																																																																																			.		0.557	DIO2-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000413428.2		
TSHR	7253	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	81557476	81557476	+	Silent	SNP	A	A	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:81557476A>T	ENST00000541158.2	+	6	778	c.456A>T	c.(454-456)atA>atT	p.I152I	TSHR_ENST00000298171.2_Silent_p.I152I|TSHR_ENST00000554435.1_Silent_p.I152I|TSHR_ENST00000342443.6_Silent_p.I152I|TSHR_ENST00000554263.1_Silent_p.I152I			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	152					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult locomotory behavior (GO:0008344)|B cell differentiation (GO:0030183)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of locomotion (GO:0040012)|thyroid-stimulating hormone signaling pathway (GO:0038194)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	thyroid-stimulating hormone receptor activity (GO:0004996)			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	CCACTGATATATTCTTTATAC	0.328			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism																														p.I152I		.	yes	Dom	yes		14	14q31	7253	thyroid stimulating hormone receptor	yes	E	.	TSHR-1650	0			c.A456T						.						122.0	119.0	120.0					14																	81557476		2203	4300	6503	SO:0001819	synonymous_variant	7253	exon5			TGATATATTCTTT	AY429111	CCDS9872.1, CCDS32131.1, CCDS55935.1	14q24-q31	2014-09-17			ENSG00000165409	ENSG00000165409		"""GPCR / Class A : Gonadotropin and TSH receptors"""	12373	protein-coding gene	gene with protein product		603372				2558651, 2610690	Standard	NM_001018036		Approved	LGR3	uc001xvd.1	P16473		ENST00000541158.2:c.456A>T	14.37:g.81557476A>T		48	0		34	18	NM_000369	0	0	0	0	0	A0PJU7|F5GYU5|G3V2A9|Q16503|Q8TB90|Q96GT6|Q9P1V4|Q9ULA3|Q9UPH3	Silent	SNP	ENST00000541158.2	37	CCDS9872.1																																																																																			.		0.328	TSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413364.1	NM_000369	
FLRT2	23768	broad.mit.edu;ucsc.edu;bcgsc.ca	37	14	86089453	86089453	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:86089453C>T	ENST00000330753.4	+	2	2362	c.1595C>T	c.(1594-1596)aCg>aTg	p.T532M	FLRT2_ENST00000554746.1_Missense_Mutation_p.T532M	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	532					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CATGAGCAGACGACGTCCCAC	0.577																																					p.T532M		.											.	FLRT2-94	0			c.C1595T						.						98.0	98.0	98.0					14																	86089453		2203	4300	6503	SO:0001583	missense	23768	exon2			AGCAGACGACGTC	AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.1595C>T	14.37:g.86089453C>T	ENSP00000332879:p.Thr532Met	165	1		184	79	NM_013231	0	0	1	3	2	A0AV84|B7ZLP3	Missense_Mutation	SNP	ENST00000330753.4	37	CCDS9877.1	.	.	.	.	.	.	.	.	.	.	C	16.08	3.020393	0.54576	.	.	ENSG00000185070	ENST00000330753;ENST00000554746;ENST00000535800	T;T	0.56941	0.43;0.43	6.17	6.17	0.99709	.	0.098876	0.64402	D	0.000001	T	0.43590	0.1254	L	0.29908	0.895	0.44316	D	0.997198	P	0.35174	0.488	B	0.28465	0.09	T	0.27806	-1.0063	10	0.39692	T	0.17	-7.1821	20.8794	0.99867	0.0:1.0:0.0:0.0	.	532	O43155	FLRT2_HUMAN	M	532;532;185	ENSP00000332879:T532M;ENSP00000451050:T532M	ENSP00000332879:T532M	T	+	2	0	FLRT2	85159206	1.000000	0.71417	0.985000	0.45067	0.645000	0.38454	4.662000	0.61525	2.941000	0.99782	0.655000	0.94253	ACG	.		0.577	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1		
SMEK1	55671	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	14	91927933	91927933	+	Frame_Shift_Del	DEL	T	T	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:91927933delT	ENST00000554943.1	-	14	2298	c.2183delA	c.(2182-2184)aagfs	p.K728fs	SMEK1_ENST00000554684.1_Frame_Shift_Del_p.K715fs|SMEK1_ENST00000428424.2_Frame_Shift_Del_p.K489fs|SMEK1_ENST00000337238.4_Frame_Shift_Del_p.K715fs|SMEK1_ENST00000555462.1_Frame_Shift_Del_p.K489fs|SMEK1_ENST00000555718.1_5'UTR			Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1 (Dictyostelium)	728					positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)				NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		AAGCACTTCCTTTTCCTCACT	0.408																																					p.K715fs		.											.	SMEK1-226	0			c.2144delA						.						91.0	97.0	95.0					14																	91927933		2203	4300	6503	SO:0001589	frameshift_variant	55671	exon15			ACTTCCTTTTCCT	AK000714	CCDS9895.1, CCDS61532.1	14q32.12	2008-09-15	2006-10-12	2006-10-12		ENSG00000100796			20219	protein-coding gene	gene with protein product		610351	"""KIAA2010"""	KIAA2010		16085932, 18487071	Standard	XM_005267842		Approved	FLJ20707, MSTP033, FLFL1, smk-1, smk1	uc001xzm.3	Q6IN85		ENST00000554943.1:c.2183delA	14.37:g.91927933delT	ENSP00000450883:p.Lys728fs	92	0		102	38	NM_032560	0	0	0	0	0	Q69YK6|Q86U23|Q86YI7|Q8IVG1|Q9H3F1|Q9H7U8|Q9NV01|Q9NWP1	Frame_Shift_Del	DEL	ENST00000554943.1	37																																																																																				.		0.408	SMEK1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000411665.1	NM_032560	
SLC24A4	123041	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	92792243	92792243	+	Silent	SNP	C	C	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:92792243C>A	ENST00000532405.1	+	2	388	c.162C>A	c.(160-162)gtC>gtA	p.V54V	SLC24A4_ENST00000351924.5_Silent_p.V37V|SLC24A4_ENST00000393265.2_De_novo_Start_InFrame|SLC24A4_ENST00000531433.1_Silent_p.V54V|SLC24A4_ENST00000298877.1_Silent_p.V37V			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	54					amelogenesis (GO:0097186)|cellular calcium ion homeostasis (GO:0006874)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|sensory perception of smell (GO:0007608)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		GCAAACGTGTCCTGCCAGACA	0.463																																					p.V54V	NSCLC(10;315 435 10383 28450 38798)	.											.	SLC24A4-93	0			c.C162A						.						80.0	73.0	75.0					14																	92792243		2203	4300	6503	SO:0001819	synonymous_variant	123041	exon2			ACGTGTCCTGCCA	AF520704	CCDS9903.1, CCDS45155.1, CCDS45156.1, CCDS9903.2, CCDS45155.2	14q32.12	2013-05-22			ENSG00000140090	ENSG00000140090		"""Solute carriers"""	10978	protein-coding gene	gene with protein product		609840					Standard	NM_153646		Approved	NCKX4	uc001yak.3	Q8NFF2	OTTHUMG00000167589	ENST00000532405.1:c.162C>A	14.37:g.92792243C>A		96	0		98	41	NM_153646	0	0	0	0	0	B4DHE7|B9ZVY2|Q8N8U6|Q8NCX1|Q8NFF0|Q8NFF1	Silent	SNP	ENST00000532405.1	37	CCDS9903.2																																																																																			.		0.463	SLC24A4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395240.1	NM_153646	
SLC24A4	123041	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	92909757	92909757	+	Missense_Mutation	SNP	C	C	T	rs372741185		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:92909757C>T	ENST00000532405.1	+	7	822	c.596C>T	c.(595-597)aCg>aTg	p.T199M	SLC24A4_ENST00000351924.5_Missense_Mutation_p.T182M|SLC24A4_ENST00000393265.2_Missense_Mutation_p.T135M|SLC24A4_ENST00000531433.1_Missense_Mutation_p.T199M|SLC24A4_ENST00000298877.1_Missense_Mutation_p.T182M			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	199					amelogenesis (GO:0097186)|cellular calcium ion homeostasis (GO:0006874)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|sensory perception of smell (GO:0007608)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)	p.T182M(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		GTCCGTCTGACGTGGTGGGCC	0.662																																					p.T199M	NSCLC(10;315 435 10383 28450 38798)	.											.	SLC24A4-93	1	Substitution - Missense(1)	breast(1)	c.C596T						.	C	MET/THR,MET/THR,MET/THR	1,4405	2.1+/-5.4	0,1,2202	161.0	113.0	129.0		596,596,404	5.0	1.0	14		129	0,8600		0,0,4300	no	missense,missense,missense	SLC24A4	NM_153646.3,NM_153647.3,NM_153648.3	81,81,81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	199/623,199/604,135/559	92909757	1,13005	2203	4300	6503	SO:0001583	missense	123041	exon7			GTCTGACGTGGTG	AF520704	CCDS9903.1, CCDS45155.1, CCDS45156.1, CCDS9903.2, CCDS45155.2	14q32.12	2013-05-22			ENSG00000140090	ENSG00000140090		"""Solute carriers"""	10978	protein-coding gene	gene with protein product		609840					Standard	NM_153646		Approved	NCKX4	uc001yak.3	Q8NFF2	OTTHUMG00000167589	ENST00000532405.1:c.596C>T	14.37:g.92909757C>T	ENSP00000431840:p.Thr199Met	110	0		148	64	NM_153646	0	0	0	0	0	B4DHE7|B9ZVY2|Q8N8U6|Q8NCX1|Q8NFF0|Q8NFF1	Missense_Mutation	SNP	ENST00000532405.1	37	CCDS9903.2	.	.	.	.	.	.	.	.	.	.	C	25.2	4.612312	0.87258	2.27E-4	0.0	ENSG00000140090	ENST00000393265;ENST00000531433;ENST00000532405;ENST00000298877;ENST00000351924	T;T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08;-0.08	4.99	4.99	0.66335	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	T	0.79452	0.4448	M	0.78801	2.425	0.58432	D	0.999995	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76575	0.988;0.988;0.98	T	0.82248	-0.0551	10	0.66056	D	0.02	.	16.4342	0.83869	0.0:1.0:0.0:0.0	.	199;135;199	Q8NFF2-3;Q8NFF2-2;Q8NFF2	.;.;NCKX4_HUMAN	M	135;199;199;182;182	ENSP00000376948:T135M;ENSP00000433302:T199M;ENSP00000431840:T199M;ENSP00000298877:T182M;ENSP00000337789:T182M	ENSP00000298877:T182M	T	+	2	0	SLC24A4	91979510	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.399000	0.79935	2.304000	0.77564	0.462000	0.41574	ACG	.		0.662	SLC24A4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395240.1	NM_153646	
GOLGA5	9950	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	14	93277940	93277940	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:93277940G>A	ENST00000163416.2	+	6	1417	c.1161G>A	c.(1159-1161)caG>caA	p.Q387Q	GOLGA5_ENST00000355976.2_Silent_p.Q387Q	NM_005113.2	NP_005104	Q8TBA6	GOGA5_HUMAN	golgin A5	387					Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)			large_intestine(6)|lung(1)|ovary(2)	9		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		TGGAACGTCAGAATTTAGCAG	0.358			T	RET	papillary thyroid																																p.Q387Q		.		Dom	yes		14	14q	9950	"""golgi autoantigen, golgin subfamily a, 5  (PTC5)"""		E	.	GOLGA5-677	0			c.G1161A						.						91.0	93.0	92.0					14																	93277940		2203	4300	6503	SO:0001819	synonymous_variant	9950	exon6			ACGTCAGAATTTA	AF085199	CCDS9905.1	14q32.12	2012-05-04	2010-02-12		ENSG00000066455	ENSG00000066455			4428	protein-coding gene	gene with protein product	"""golgi integral membrane protein 5"""	606918	"""golgi autoantigen, golgin subfamily a, 5"""			2734021, 9443391, 15004235	Standard	NM_005113		Approved	ret-II, golgin-84, rfg5, GOLIM5	uc001yaz.1	Q8TBA6	OTTHUMG00000171217	ENST00000163416.2:c.1161G>A	14.37:g.93277940G>A		314	1		364	145	NM_005113	0	0	37	69	32	C9JRU1|O95287|Q03962|Q2TS49|Q9UQQ7	Silent	SNP	ENST00000163416.2	37	CCDS9905.1																																																																																			.		0.358	GOLGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412365.1		
UNC79	57578	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	93954014	93954014	+	Missense_Mutation	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:93954014T>C	ENST00000393151.2	+	5	625	c.625T>C	c.(625-627)Tcc>Ccc	p.S209P	UNC79_ENST00000553484.1_Missense_Mutation_p.S209P|UNC79_ENST00000555664.1_Missense_Mutation_p.S209P|UNC79_ENST00000256339.4_Missense_Mutation_p.S32P			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	209					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TGCAGTGGGCTCCTCAAGGAG	0.398																																					p.S32P		.											.	.	0			c.T94C						.						130.0	119.0	123.0					14																	93954014		2203	4300	6503	SO:0001583	missense	57578	exon5			GTGGGCTCCTCAA	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.625T>C	14.37:g.93954014T>C	ENSP00000376858:p.Ser209Pro	72	0		81	30	NM_020818	0	0	0	0	0	B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37		.	.	.	.	.	.	.	.	.	.	T	15.31	2.795047	0.50208	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.19394	2.15;2.16;2.15;2.15	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.27027	0.0662	L	0.36672	1.1	0.52099	D	0.999943	D;D	0.59767	0.986;0.986	P;P	0.51229	0.663;0.663	T	0.01099	-1.1452	10	0.41790	T	0.15	-9.7376	15.5019	0.75705	0.0:0.0:0.0:1.0	.	209;209	C9JQL1;Q9P2D8	.;UNC79_HUMAN	P	32;209;209;209;209	ENSP00000256339:S32P;ENSP00000450868:S209P;ENSP00000451360:S209P;ENSP00000376858:S209P	ENSP00000256339:S32P	S	+	1	0	KIAA1409	93023767	1.000000	0.71417	0.980000	0.43619	0.592000	0.36648	4.833000	0.62766	2.074000	0.62210	0.482000	0.46254	TCC	.		0.398	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395	
SERPINA6	866	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	94772527	94772527	+	Missense_Mutation	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:94772527T>C	ENST00000341584.3	-	4	1059	c.913A>G	c.(913-915)Acc>Gcc	p.T305A		NM_001756.3	NP_001747	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	305					glucocorticoid metabolic process (GO:0008211)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)|transport (GO:0006810)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)|steroid binding (GO:0005496)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	CCAGAGATGGTGACCTTTGGA	0.557																																					p.T305A		.											.	SERPINA6-653	0			c.A913G						.						105.0	89.0	94.0					14																	94772527		2203	4300	6503	SO:0001583	missense	866	exon4			AGATGGTGACCTT	J02943	CCDS9924.1	14q32.13	2014-02-18	2005-08-18		ENSG00000170099	ENSG00000170099		"""Serine (or cysteine) peptidase inhibitors"""	1540	protein-coding gene	gene with protein product	"""corticosteroid binding globulin"", ""transcortin"""	122500	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6"""	CBG		3299377, 7912884, 24172014	Standard	NM_001756		Approved		uc001ycv.3	P08185	OTTHUMG00000171346	ENST00000341584.3:c.913A>G	14.37:g.94772527T>C	ENSP00000342850:p.Thr305Ala	102	0		132	69	NM_001756	0	0	0	0	0	A8K456|Q7Z2Q9	Missense_Mutation	SNP	ENST00000341584.3	37	CCDS9924.1	.	.	.	.	.	.	.	.	.	.	T	11.95	1.792756	0.31685	.	.	ENSG00000170099	ENST00000341584	D	0.84298	-1.83	4.69	1.01	0.19927	Serpin domain (3);	0.470065	0.19535	N	0.111937	T	0.70124	0.3188	N	0.21508	0.67	0.23331	N	0.997897	B	0.02656	0.0	B	0.08055	0.003	T	0.60037	-0.7341	10	0.72032	D	0.01	.	2.6135	0.04898	0.5437:0.1243:0.0742:0.2578	.	305	P08185	CBG_HUMAN	A	305	ENSP00000342850:T305A	ENSP00000342850:T305A	T	-	1	0	SERPINA6	93842280	1.000000	0.71417	0.001000	0.08648	0.001000	0.01503	1.519000	0.35888	0.368000	0.24481	-0.339000	0.08088	ACC	.		0.557	SERPINA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413065.1	NM_001756	
SERPINA3	12	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	95088767	95088767	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:95088767C>T	ENST00000467132.1	+	4	2155	c.1007C>T	c.(1006-1008)gCc>gTc	p.A336V	RP11-986E7.7_ENST00000553947.1_3'UTR|SERPINA3_ENST00000393080.4_Missense_Mutation_p.A336V|SERPINA3_ENST00000482740.1_Missense_Mutation_p.A118V|SERPINA3_ENST00000393078.3_Missense_Mutation_p.A336V			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	336					acute-phase response (GO:0006953)|inflammatory response (GO:0006954)|maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of endopeptidase activity (GO:0010951)|regulation of lipid metabolic process (GO:0019216)|regulation of proteolysis (GO:0030162)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	DNA binding (GO:0003677)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		ATTGAGGAAGCCTTCACCAGC	0.502																																					p.A336V		.											.	SERPINA3-653	0			c.C1007T						.						101.0	92.0	95.0					14																	95088767		2203	4300	6503	SO:0001583	missense	12	exon4			AGGAAGCCTTCAC	K01500	CCDS32150.1	14q32.1	2014-06-03	2005-08-18		ENSG00000196136	ENSG00000196136		"""Serine (or cysteine) peptidase inhibitors"""	16	protein-coding gene	gene with protein product		107280	"""alpha-1-antichymotrypsin"", ""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3"""	AACT		3260956, 24172014	Standard	NM_001085		Approved	ACT, alpha-1-antichymotrypsin	uc001ydp.3	P01011	OTTHUMG00000029851	ENST00000467132.1:c.1007C>T	14.37:g.95088767C>T	ENSP00000450540:p.Ala336Val	90	0		128	52	NM_001085	0	0	24	41	17	B3KVQ7|Q13703|Q2TU87|Q2TU88|Q59GP9|Q6LBY8|Q6LDT7|Q6NSC9|Q8N177|Q96DW8|Q9UC47|Q9UNU9	Missense_Mutation	SNP	ENST00000467132.1	37	CCDS32150.1	.	.	.	.	.	.	.	.	.	.	C	1.237	-0.622336	0.03636	.	.	ENSG00000196136	ENST00000553947;ENST00000393078;ENST00000393080;ENST00000467132;ENST00000482740	D;D;D;D;D	0.84589	-1.87;-1.87;-1.87;-1.87;-1.87	4.84	3.69	0.42338	Serpin domain (3);	0.108804	0.38778	N	0.001564	T	0.58409	0.2120	N	0.01649	-0.78	0.09310	N	1	B;B	0.12630	0.003;0.006	B;B	0.10450	0.005;0.004	T	0.50268	-0.8848	10	0.02654	T	1	.	9.3788	0.38299	0.0:0.0856:0.0:0.9144	.	336;361	P01011;G3V5I3	AACT_HUMAN;.	V	361;336;336;336;118	ENSP00000452367:A361V;ENSP00000376793:A336V;ENSP00000376795:A336V;ENSP00000450540:A336V;ENSP00000451119:A118V	ENSP00000376793:A336V	A	+	2	0	SERPINA3	94158520	0.332000	0.24722	0.535000	0.28026	0.010000	0.07245	2.210000	0.42816	0.876000	0.35872	-0.487000	0.04747	GCC	.		0.502	SERPINA3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268080.3	NM_001085	
SYNE3	161176	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	95932517	95932517	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:95932517G>A	ENST00000334258.5	-	3	392	c.378C>T	c.(376-378)taC>taT	p.Y126Y	SYNE3_ENST00000553340.1_Silent_p.Y126Y|SYNE3_ENST00000557275.1_Silent_p.Y126Y	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	126					cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993)	actin filament binding (GO:0051015)			breast(1)|endometrium(2)|lung(25)	28						GGAACCAGCGGTAGAACTCAT	0.622																																					p.Y126Y		.											.	.	0			c.C378T						.						66.0	69.0	68.0					14																	95932517		2203	4300	6503	SO:0001819	synonymous_variant	161176	exon3			CCAGCGGTAGAAC	AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"""chromosome 14 open reading frame 49"""	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.378C>T	14.37:g.95932517G>A		66	1		79	36	NM_152592	0	0	1	1	0	A6H8H3|Q86SX5|Q8N7G8	Silent	SNP	ENST00000334258.5	37	CCDS9935.1																																																																																			.		0.622	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420529.2	NM_152592	
PAPOLA	10914	broad.mit.edu;ucsc.edu;bcgsc.ca	37	14	97027050	97027050	+	Splice_Site	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:97027050T>C	ENST00000216277.8	+	20	2287		c.e20+2		PAPOLA_ENST00000392990.2_Intron	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha						gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|RNA polyadenylation (GO:0043631)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		GAAGCAAAGGTATACTAATTT	0.284																																					.	NSCLC(19;254 734 11908 35501 39234)	.											.	PAPOLA-68	0			c.2067+2T>C						.						84.0	89.0	87.0					14																	97027050		2203	4284	6487	SO:0001630	splice_region_variant	10914	exon20			CAAAGGTATACTA	X76770	CCDS9946.1, CCDS58334.1, CCDS58335.1	14q32.1-q32.2	2008-02-08				ENSG00000090060	2.7.7.19		14981	protein-coding gene	gene with protein product		605553				8302877, 10429366	Standard	NM_032632		Approved	PAP	uc001yfq.3	P51003		ENST00000216277.8:c.2067+2T>C	14.37:g.97027050T>C		156	1		140	51	NM_032632	0	0	0	1	1	Q86SX4|Q86TV0|Q8IYF5|Q9BVU2	Splice_Site	SNP	ENST00000216277.8	37	CCDS9946.1	.	.	.	.	.	.	.	.	.	.	T	17.07	3.295418	0.60086	.	.	ENSG00000090060	ENST00000216277;ENST00000555626	.	.	.	5.71	4.55	0.56014	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.4239	0.49998	0.0:0.0:0.1511:0.8489	.	.	.	.	.	-1	.	.	.	+	.	.	PAPOLA	96096803	1.000000	0.71417	0.992000	0.48379	0.994000	0.84299	3.382000	0.52463	0.966000	0.38159	0.528000	0.53228	.	.		0.284	PAPOLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413411.2		Intron
BCL11B	64919	broad.mit.edu;mdanderson.org	37	14	99640941	99640941	+	Silent	SNP	C	C	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:99640941C>A	ENST00000357195.3	-	4	2241	c.2232G>T	c.(2230-2232)tcG>tcT	p.S744S	BCL11B_ENST00000443726.2_Silent_p.S550S|BCL11B_ENST00000345514.2_Silent_p.S673S	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	744					alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|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)			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		CGTTCTCGGACGAGTGCTCGG	0.731			T	TLX3	T-ALL																																p.S744S		.		Dom	yes		14	14q32.1	64919	B-cell CLL/lymphoma 11B  (CTIP2)		L	.	BCL11B-1147	0			c.G2232T						.						12.0	11.0	11.0					14																	99640941		2157	4226	6383	SO:0001819	synonymous_variant	64919	exon4			CTCGGACGAGTGC	AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"""Zinc fingers, C2H2-type"""	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.2232G>T	14.37:g.99640941C>A		11	0		54	20	NM_138576	0	0	0	0	0	Q9H162	Silent	SNP	ENST00000357195.3	37	CCDS9950.1																																																																																			.		0.731	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000072332.2	NM_138576	
BCL11B	64919	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	14	99641025	99641025	+	Silent	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:99641025C>T	ENST00000357195.3	-	4	2157	c.2148G>A	c.(2146-2148)gcG>gcA	p.A716A	BCL11B_ENST00000443726.2_Silent_p.A522A|BCL11B_ENST00000345514.2_Silent_p.A645A	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	716					alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|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)			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		GCCGCGACGCCGCGTAGCCCA	0.682			T	TLX3	T-ALL																																p.A716A		.		Dom	yes		14	14q32.1	64919	B-cell CLL/lymphoma 11B  (CTIP2)		L	.	BCL11B-1147	0			c.G2148A						.						23.0	20.0	21.0					14																	99641025		2191	4291	6482	SO:0001819	synonymous_variant	64919	exon4			CGACGCCGCGTAG	AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"""Zinc fingers, C2H2-type"""	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.2148G>A	14.37:g.99641025C>T		29	0		119	48	NM_138576	0	0	0	0	0	Q9H162	Silent	SNP	ENST00000357195.3	37	CCDS9950.1																																																																																			.		0.682	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000072332.2	NM_138576	
BCL11B	64919	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	14	99697775	99697775	+	Frame_Shift_Del	DEL	G	G	-	rs201298258		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:99697775delG	ENST00000357195.3	-	3	556	c.547delC	c.(547-549)ctgfs	p.L183fs	BCL11B_ENST00000443726.2_Intron|BCL11B_ENST00000345514.2_Intron	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	183					alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|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)			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		CAGCACGGCAGGGGGAGGCAG	0.677			T	TLX3	T-ALL																																p.L183fs		.		Dom	yes		14	14q32.1	64919	B-cell CLL/lymphoma 11B  (CTIP2)		L	.	BCL11B-1147	0			c.547delC						.						20.0	22.0	21.0					14																	99697775		2200	4296	6496	SO:0001589	frameshift_variant	64919	exon3			ACGGCAGGGGGAG	AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"""Zinc fingers, C2H2-type"""	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.547delC	14.37:g.99697775delG	ENSP00000349723:p.Leu183fs	38	0		185	57	NM_138576	0	0	0	0	0	Q9H162	Frame_Shift_Del	DEL	ENST00000357195.3	37	CCDS9950.1																																																																																			.		0.677	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000072332.2	NM_138576	
SLC25A47	283600	mdanderson.org	37	14	100793571	100793571	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:100793571C>T	ENST00000361529.3	+	4	269	c.191C>T	c.(190-192)tCc>tTc	p.S64F	SLC25A47_ENST00000557052.1_5'UTR	NM_207117.2	NP_997000.2	Q6Q0C1	S2547_HUMAN	solute carrier family 25, member 47	64					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	13						TGCACGGTGTCCCTGGTATCT	0.672																																					p.S64F	GBM(11;1289 1351)	.											.	SLC25A47-91	0			c.C191T						.						130.0	128.0	129.0					14																	100793571		2203	4300	6503	SO:0001583	missense	283600	exon4			CGGTGTCCCTGGT		CCDS9959.1	14q32.2	2013-05-22	2010-07-19	2010-07-19	ENSG00000140107	ENSG00000140107		"""Solute carriers"""	20115	protein-coding gene	gene with protein product		609911	"""chromosome 14 open reading frame 68"""	C14orf68			Standard	NM_207117		Approved		uc001yhc.3	Q6Q0C1	OTTHUMG00000171571	ENST00000361529.3:c.191C>T	14.37:g.100793571C>T	ENSP00000354886:p.Ser64Phe	24	1		47	16	NM_207117	0	0	0	0	0	B2RP39|Q68CL2|Q6PZD8|Q86U14	Missense_Mutation	SNP	ENST00000361529.3	37	CCDS9959.1	.	.	.	.	.	.	.	.	.	.	C	17.92	3.506251	0.64410	.	.	ENSG00000140107	ENST00000361529	T	0.79247	-1.25	4.71	4.71	0.59529	Mitochondrial carrier domain (2);	0.423882	0.29459	N	0.012081	T	0.82107	0.4965	L	0.35793	1.09	0.80722	D	1	P	0.49961	0.93	P	0.62885	0.908	D	0.84219	0.0460	10	0.87932	D	0	11.5663	16.0555	0.80801	0.0:1.0:0.0:0.0	.	64	Q6Q0C1	S2547_HUMAN	F	64	ENSP00000354886:S64F	ENSP00000354886:S64F	S	+	2	0	SLC25A47	99863324	1.000000	0.71417	0.995000	0.50966	0.243000	0.25628	7.178000	0.77657	2.454000	0.82982	0.485000	0.47835	TCC	.		0.672	SLC25A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414231.1		
DYNC1H1	1778	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	102476260	102476260	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:102476260C>T	ENST00000360184.4	+	30	6222	c.6058C>T	c.(6058-6060)Cct>Tct	p.P2020S		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2020	AAA 1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CACCATGAACCCTGGCTACGC	0.552																																					p.P2020S		.											.	DYNC1H1-98	0			c.C6058T						.						62.0	59.0	60.0					14																	102476260		2203	4300	6503	SO:0001583	missense	1778	exon30			ATGAACCCTGGCT	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.6058C>T	14.37:g.102476260C>T	ENSP00000348965:p.Pro2020Ser	146	0		166	75	NM_001376	0	0	39	63	24	B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	C	33	5.252651	0.95336	.	.	ENSG00000197102	ENST00000360184	T	0.15372	2.43	5.33	5.33	0.75918	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.56499	0.1989	H	0.94183	3.505	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.69665	-0.5084	10	0.87932	D	0	.	19.3801	0.94529	0.0:1.0:0.0:0.0	.	2020	Q14204	DYHC1_HUMAN	S	2020	ENSP00000348965:P2020S	ENSP00000348965:P2020S	P	+	1	0	DYNC1H1	101546013	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.725000	0.84808	2.644000	0.89710	0.655000	0.94253	CCT	.		0.552	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376	
DYNC1H1	1778	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	14	102516785	102516785	+	Missense_Mutation	SNP	T	T	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:102516785T>A	ENST00000360184.4	+	78	13990	c.13826T>A	c.(13825-13827)gTc>gAc	p.V4609D	RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4609					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						ACCTTACCTGTCTACCTGAAC	0.542																																					p.V4609D		.											.	DYNC1H1-98	0			c.T13826A						.						177.0	182.0	180.0					14																	102516785		2203	4300	6503	SO:0001583	missense	1778	exon78			TACCTGTCTACCT	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.13826T>A	14.37:g.102516785T>A	ENSP00000348965:p.Val4609Asp	115	0		138	65	NM_001376	0	0	0	2	2	B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	T	17.89	3.500787	0.64298	.	.	ENSG00000197102	ENST00000360184	T	0.12774	2.65	5.61	5.61	0.85477	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.46034	0.1372	M	0.89904	3.07	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	T	0.56685	-0.7938	10	0.87932	D	0	.	15.8204	0.78638	0.0:0.0:0.0:1.0	.	4609	Q14204	DYHC1_HUMAN	D	4609	ENSP00000348965:V4609D	ENSP00000348965:V4609D	V	+	2	0	DYNC1H1	101586538	1.000000	0.71417	0.929000	0.37066	0.080000	0.17528	7.740000	0.84986	2.146000	0.66826	0.459000	0.35465	GTC	.		0.542	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376	
ZNF839	55778	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	14	102807679	102807680	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	TG	TG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:102807679_102807680delTG	ENST00000558850.1	+	8	1949_1950	c.1599_1600delTG	c.(1597-1602)aatgtgfs	p.V534fs	ZNF839_ENST00000420933.2_3'UTR|AL137229.1_ENST00000577622.1_RNA|ZNF839_ENST00000262236.5_Frame_Shift_Del_p.V536fs|ZNF839_ENST00000559185.1_Frame_Shift_Del_p.V534fs|ZNF839_ENST00000442396.2_Frame_Shift_Del_p.V650fs	NM_001267827.1	NP_001254756.1	A8K0R7	ZN839_HUMAN	zinc finger protein 839	534							metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						CTCCAGTAAATGTGACTGTCTC	0.53																																					p.649_650del		.											.	ZNF839-91	0			c.1947_1948del						.																																			SO:0001589	frameshift_variant	55778	exon8			AGTAAATGTGACT	AK093342	CCDS45164.1, CCDS58336.1	14q32.32	2010-05-06	2008-06-23	2008-06-23	ENSG00000022976	ENSG00000022976			20345	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 131"""	C14orf131			Standard	NM_018335		Approved		uc010awk.2	A8K0R7		ENST00000558850.1:c.1599_1600delTG	14.37:g.102807681_102807682delTG	ENSP00000453363:p.Val534fs	190	0		273	86	NM_018335	0	0	0	0	0	B3KSD2|Q53FH5|Q6GPI5|Q86TU1|Q9BQ86|Q9NUU3	Frame_Shift_Del	DEL	ENST00000558850.1	37	CCDS58336.1																																																																																			.		0.530	ZNF839-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000415492.2	NM_018335	
CINP	51550	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	102816363	102816363	+	Missense_Mutation	SNP	T	T	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:102816363T>A	ENST00000216756.6	-	4	369	c.329A>T	c.(328-330)gAa>gTa	p.E110V	CINP_ENST00000536961.2_Missense_Mutation_p.E125V|CINP_ENST00000541568.2_Intron|CINP_ENST00000560326.1_5'Flank	NM_032630.2	NP_116019.1	Q9BW66	CINP_HUMAN	cyclin-dependent kinase 2 interacting protein	110					cell cycle (GO:0007049)|cell division (GO:0051301)|DNA repair (GO:0006281)|DNA replication (GO:0006260)	nucleus (GO:0005634)				large_intestine(2)|lung(2)	4						AGACAGCTTTTCCATTTTCAC	0.373																																					p.E125V		.											.	CINP-178	0			c.A374T						.						128.0	122.0	124.0					14																	102816363		2203	4300	6503	SO:0001583	missense	51550	exon4			AGCTTTTCCATTT	AK056112, AF228148, AF228149	CCDS9972.1	14q32.33	2010-02-17			ENSG00000100865	ENSG00000100865			23789	protein-coding gene	gene with protein product		613362				16082200	Standard	NM_032630		Approved	MGC849	uc021sea.1	Q9BW66		ENST00000216756.6:c.329A>T	14.37:g.102816363T>A	ENSP00000216756:p.Glu110Val	88	0		109	54	NM_001177611	0	0	47	89	42	F5H7P3|F5H8A7|Q9NPF9	Missense_Mutation	SNP	ENST00000216756.6	37	CCDS9972.1	.	.	.	.	.	.	.	.	.	.	T	27.5	4.833343	0.91036	.	.	ENSG00000100865	ENST00000216756;ENST00000536961	T;T	0.52295	0.69;0.67	5.9	5.9	0.94986	.	0.051739	0.85682	D	0.000000	T	0.69251	0.3090	M	0.78637	2.42	0.80722	D	1	D	0.76494	0.999	D	0.67382	0.951	T	0.73500	-0.3963	10	0.87932	D	0	-0.2658	16.3317	0.83023	0.0:0.0:0.0:1.0	.	110	Q9BW66	CINP_HUMAN	V	110;125	ENSP00000216756:E110V;ENSP00000442057:E125V	ENSP00000216756:E110V	E	-	2	0	CINP	101886116	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.615000	0.61190	2.264000	0.75181	0.533000	0.62120	GAA	.		0.373	CINP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415055.1	NM_032630	
TECPR2	9895	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	102931570	102931570	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:102931570C>T	ENST00000359520.7	+	17	3959	c.3733C>T	c.(3733-3735)Cct>Tct	p.P1245S	TECPR2_ENST00000558678.1_Missense_Mutation_p.P1245S	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	1245					autophagy (GO:0006914)|cell death (GO:0008219)					breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						AGGGACTCAGCCTCTCAATCC	0.493																																					p.P1245S		.											.	TECPR2-92	0			c.C3733T						.						143.0	130.0	135.0					14																	102931570		2203	4300	6503	SO:0001583	missense	9895	exon17			ACTCAGCCTCTCA	AB019441	CCDS32162.1, CCDS58337.1	14q32.33	2009-02-27	2009-02-27	2009-02-27		ENSG00000196663			19957	protein-coding gene	gene with protein product		615000	"""KIAA0329"""	KIAA0329		9205841	Standard	NM_014844		Approved		uc001ylw.2	O15040		ENST00000359520.7:c.3733C>T	14.37:g.102931570C>T	ENSP00000352510:p.Pro1245Ser	142	0		179	79	NM_001172631	0	0	7	14	7	A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Missense_Mutation	SNP	ENST00000359520.7	37	CCDS32162.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.973395	0.92919	.	.	ENSG00000196663	ENST00000359520	T	0.79247	-1.25	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.82664	0.5086	N	0.24115	0.695	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.84308	0.0509	10	0.72032	D	0.01	.	20.2192	0.98319	0.0:1.0:0.0:0.0	.	428;1245;1245	B4DSD3;A5PKY3;O15040	.;.;TCPR2_HUMAN	S	1245	ENSP00000352510:P1245S	ENSP00000352510:P1245S	P	+	1	0	TECPR2	102001323	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	6.867000	0.75511	2.780000	0.95670	0.655000	0.94253	CCT	.		0.493	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415056.2	NM_014844	
TRMT61A	115708	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	103999082	103999082	+	Silent	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:103999082C>T	ENST00000389749.4	+	3	602	c.495C>T	c.(493-495)tgC>tgT	p.C165C		NM_152307.2	NP_689520.2	Q96FX7	TRM61_HUMAN	tRNA methyltransferase 61 homolog A (S. cerevisiae)	165						nucleus (GO:0005634)|tRNA (m1A) methyltransferase complex (GO:0031515)	tRNA (adenine-N1-)-methyltransferase activity (GO:0016429)			skin(1)	1						AGGACGTGTGCCGCAGTGGCT	0.692																																					p.C165C		.											.	TRMT61A-90	0			c.C495T						.						25.0	32.0	30.0					14																	103999082		2104	4219	6323	SO:0001819	synonymous_variant	115708	exon3			CGTGTGCCGCAGT	AK097771	CCDS41994.1	14q32	2009-01-09	2009-01-09	2009-01-09		ENSG00000166166			23790	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 172"""	C14orf172		16043508	Standard	NM_152307		Approved	FLJ40452, GCD14, Gcd14p, hTRM61	uc010aws.3	Q96FX7		ENST00000389749.4:c.495C>T	14.37:g.103999082C>T		96	0		256	124	NM_152307	0	0	4	5	1	A6NN78|Q8N7Q9	Silent	SNP	ENST00000389749.4	37	CCDS41994.1	.	.	.	.	.	.	.	.	.	.	C	1.844	-0.466819	0.04476	.	.	ENSG00000166166	ENST00000299202	.	.	.	5.1	4.0	0.46444	.	.	.	.	.	T	0.68888	0.3050	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68142	-0.5487	4	.	.	.	-2.4747	14.4286	0.67233	0.0:0.9157:0.0:0.0843	.	.	.	.	V	67	.	.	A	+	2	0	TRMT61A	103068835	1.000000	0.71417	1.000000	0.80357	0.003000	0.03518	2.056000	0.41355	2.347000	0.79759	0.462000	0.41574	GCC	.		0.692	TRMT61A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414988.1	NM_152307	
PPP1R13B	23368	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	104206356	104206356	+	Silent	SNP	G	G	A	rs376403203		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:104206356G>A	ENST00000202556.9	-	12	2679	c.2397C>T	c.(2395-2397)ccC>ccT	p.P799P	PPP1R13B_ENST00000555391.1_5'UTR|PPP1R13B_ENST00000423488.2_Silent_p.P218P	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	799	Pro-rich.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.P799P(1)		endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				CCTCTGGTTCGGGGGAAGGTA	0.607																																					p.P799P		.											.	PPP1R13B-227	1	Substitution - coding silent(1)	endometrium(1)	c.C2397T						.	G		0,4004		0,0,2002	54.0	61.0	59.0		2397	-10.2	0.0	14		59	1,8343		0,1,4171	no	coding-synonymous	PPP1R13B	NM_015316.2		0,1,6173	AA,AG,GG		0.012,0.0,0.0081		799/1091	104206356	1,12347	2002	4172	6174	SO:0001819	synonymous_variant	23368	exon12			TGGTTCGGGGGAA	AB018314	CCDS41997.1	14q32.33	2013-01-10	2011-10-04		ENSG00000088808	ENSG00000088808		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14950	protein-coding gene	gene with protein product		606455	"""protein phosphatase 1, regulatory (inhibitor) subunit 13B"""			9872452	Standard	NM_015316		Approved	p53BP2-like, KIAA0771, p85, ASPP1	uc001yof.1	Q96KQ4	OTTHUMG00000171647	ENST00000202556.9:c.2397C>T	14.37:g.104206356G>A		42	0		70	23	NM_015316	0	0	9	14	5	B2RMX5|O94870	Silent	SNP	ENST00000202556.9	37	CCDS41997.1																																																																																			.		0.607	PPP1R13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414591.1	NM_015316	
KIF26A	26153	hgsc.bcm.edu	37	14	104644099	104644099	+	Silent	SNP	T	T	C	rs2497297	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:104644099T>C	ENST00000423312.2	+	12	4974	c.4974T>C	c.(4972-4974)agT>agC	p.S1658S	KIF26A_ENST00000315264.7_Silent_p.S1519S	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	1658					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		GTGGCAGCAGTGGCTATGAGA	0.711													C|||	2031	0.405551	0.5764	0.2911	5008	,	,		13449	0.3185		0.3718	False		,,,				2504	0.3804				p.S1658S		.											.	KIF26A-24	0			c.T4974C						.	C		1381,1865		360,661,602	3.0	4.0	4.0		4974	-0.8	1.0	14	dbSNP_100	4	2221,5011		464,1293,1859	no	coding-synonymous	KIF26A	NM_015656.1		824,1954,2461	CC,CT,TT		30.7107,42.5447,34.3768		1658/1883	104644099	3602,6876	1623	3616	5239	SO:0001819	synonymous_variant	26153	exon12			CAGCAGTGGCTAT	AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"""Kinesins"""	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.4974T>C	14.37:g.104644099T>C		0	0		18	10	NM_015656	0	0	7	23	16	Q8TAZ7|Q96GK3|Q9UFL3	Silent	SNP	ENST00000423312.2	37	CCDS45171.1																																																																																			T|0.603;C|0.397		0.711	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414356.1		
INF2	64423	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	14	105172438	105172438	+	Frame_Shift_Del	DEL	G	G	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:105172438delG	ENST00000392634.4	+	6	880	c.768delG	c.(766-768)gagfs	p.E258fs	INF2_ENST00000330634.7_Frame_Shift_Del_p.E258fs	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	258	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|regulation of cellular component size (GO:0032535)|regulation of mitochondrial fission (GO:0090140)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		CCGAGGACGAGGAGGAGCTGC	0.657																																					p.E256fs		.											.	INF2-492	0			c.768delG						.						25.0	31.0	29.0					14																	105172438		2073	4211	6284	SO:0001589	frameshift_variant	64423	exon6			GGACGAGGAGGAG	AK025709	CCDS9989.2, CCDS45173.1	14q32.33	2009-09-07	2007-11-29	2007-11-29	ENSG00000203485	ENSG00000203485			23791	protein-coding gene	gene with protein product	"""inverted formin 2"""	610982	"""chromosome 14 open reading frame 151"", ""chromosome 14 open reading frame 173"""	C14orf151, C14orf173		16818491	Standard	NM_001031714		Approved	MGC13251	uc001ypb.2	Q27J81	OTTHUMG00000029811	ENST00000392634.4:c.768delG	14.37:g.105172438delG	ENSP00000376410:p.Glu258fs	159	0		262	116	NM_022489	0	0	0	0	0	Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	Frame_Shift_Del	DEL	ENST00000392634.4	37	CCDS9989.2																																																																																			.		0.657	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000074371.4	NM_022489	
CEP170B	283638	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	105350368	105350368	+	Missense_Mutation	SNP	C	C	T	rs372246157		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:105350368C>T	ENST00000414716.3	+	9	1480	c.1252C>T	c.(1252-1254)Cgc>Tgc	p.R418C	CEP170B_ENST00000453495.1_Missense_Mutation_p.R419C|CEP170B_ENST00000418279.1_Missense_Mutation_p.R348C|CEP170B_ENST00000556508.1_Missense_Mutation_p.R348C	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	418						cytoplasm (GO:0005737)|microtubule (GO:0005874)											CCGAAAGAAGCGCTCCCAGTC	0.662																																					p.R418C		.											.	.	0			c.C1252T						.	C	CYS/ARG,CYS/ARG	0,4068		0,0,2034	30.0	35.0	33.0		1252,1042	4.2	1.0	14		33	1,8309		0,1,4154	no	missense,missense	KIAA0284	NM_001112726.2,NM_015005.2	180,180	0,1,6188	TT,TC,CC		0.012,0.0,0.0081	probably-damaging,probably-damaging	418/1555,348/1520	105350368	1,12377	2034	4155	6189	SO:0001583	missense	283638	exon9			AAGAAGCGCTCCC	AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814			20362	protein-coding gene	gene with protein product	"""Cep170-related"""		"""KIAA0284"""	KIAA0284		23087211	Standard	NM_015005		Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000414716.3:c.1252C>T	14.37:g.105350368C>T	ENSP00000404151:p.Arg418Cys	89	0		164	65	NM_001112726	0	0	0	0	0	Q2KHR7|Q86TI7	Missense_Mutation	SNP	ENST00000414716.3	37	CCDS45175.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.133093	0.77662	0.0	1.2E-4	ENSG00000099814	ENST00000556508;ENST00000414716;ENST00000453495;ENST00000418279;ENST00000556215	T;T;T;T	0.22743	1.94;1.94;1.94;1.94	4.25	4.25	0.50352	.	0.000000	0.85682	D	0.000000	T	0.44030	0.1274	M	0.72118	2.19	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.995;0.982	T	0.44967	-0.9293	10	0.87932	D	0	-11.0509	12.6228	0.56614	0.1665:0.8335:0.0:0.0	.	418;418;348	Q9Y4F5-2;Q9Y4F5;E9PFC1	.;K0284_HUMAN;.	C	348;418;419;348;138	ENSP00000451249:R348C;ENSP00000404151:R418C;ENSP00000407238:R419C;ENSP00000415006:R348C	ENSP00000404151:R418C	R	+	1	0	KIAA0284	104421413	1.000000	0.71417	0.997000	0.53966	0.725000	0.41563	2.250000	0.43178	1.901000	0.55032	0.491000	0.48974	CGC	.		0.662	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000410289.2	NM_001112726	
CEP170B	283638	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	105352726	105352726	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:105352726G>A	ENST00000414716.3	+	12	2378	c.2150G>A	c.(2149-2151)aGc>aAc	p.S717N	CEP170B_ENST00000453495.1_Missense_Mutation_p.S718N|CEP170B_ENST00000418279.1_Missense_Mutation_p.S647N|CEP170B_ENST00000556508.1_Missense_Mutation_p.S647N	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	717						cytoplasm (GO:0005737)|microtubule (GO:0005874)											GGCCCAGAGAGCAGCAGGAGG	0.706																																					p.S717N		.											.	.	0			c.G2150A						.						8.0	13.0	12.0					14																	105352726		2027	4148	6175	SO:0001583	missense	283638	exon12			CAGAGAGCAGCAG	AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814			20362	protein-coding gene	gene with protein product	"""Cep170-related"""		"""KIAA0284"""	KIAA0284		23087211	Standard	NM_015005		Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000414716.3:c.2150G>A	14.37:g.105352726G>A	ENSP00000404151:p.Ser717Asn	56	0		185	72	NM_001112726	0	0	14	24	10	Q2KHR7|Q86TI7	Missense_Mutation	SNP	ENST00000414716.3	37	CCDS45175.1	.	.	.	.	.	.	.	.	.	.	G	4.907	0.168475	0.09339	.	.	ENSG00000099814	ENST00000556508;ENST00000414716;ENST00000453495;ENST00000418279	T;T;T;T	0.23754	1.89;1.89;1.89;1.89	4.83	0.198	0.15168	.	0.736795	0.12500	N	0.463433	T	0.12646	0.0307	N	0.19112	0.55	0.09310	N	1	P;P;P	0.39282	0.666;0.475;0.61	B;B;B	0.37833	0.259;0.142;0.201	T	0.14504	-1.0470	10	0.49607	T	0.09	-2.5596	1.2778	0.02034	0.1433:0.3388:0.154:0.3639	.	717;717;647	Q9Y4F5-2;Q9Y4F5;E9PFC1	.;K0284_HUMAN;.	N	647;717;718;647	ENSP00000451249:S647N;ENSP00000404151:S717N;ENSP00000407238:S718N;ENSP00000415006:S647N	ENSP00000404151:S717N	S	+	2	0	KIAA0284	104423771	0.001000	0.12720	0.005000	0.12908	0.029000	0.11900	-0.212000	0.09319	0.122000	0.18314	-0.311000	0.09066	AGC	.		0.706	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000410289.2	NM_001112726	
AHNAK2	113146	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	105416057	105416057	+	Missense_Mutation	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:105416057T>C	ENST00000333244.5	-	7	5850	c.5731A>G	c.(5731-5733)Atg>Gtg	p.M1911V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1911						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)			AAACTGGGCATATCCACCTTG	0.622																																					p.M1911V		.											.	AHNAK2-47	0			c.A5731G						.						122.0	133.0	130.0					14																	105416057		1855	4063	5918	SO:0001583	missense	113146	exon7			TGGGCATATCCAC	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.5731A>G	14.37:g.105416057T>C	ENSP00000353114:p.Met1911Val	190	0		270	116	NM_138420	0	0	0	0	0	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	-	8.353	0.831428	0.16820	.	.	ENSG00000185567	ENST00000333244	T	0.01304	5.03	3.41	3.41	0.39046	.	.	.	.	.	T	0.03434	0.0099	M	0.82823	2.61	0.26782	N	0.969572	B	0.23891	0.093	B	0.28465	0.09	T	0.17745	-1.0359	9	0.27785	T	0.31	-28.5821	11.56	0.50772	0.0:0.0:0.0:1.0	.	1911	Q8IVF2	AHNK2_HUMAN	V	1911	ENSP00000353114:M1911V	ENSP00000353114:M1911V	M	-	1	0	AHNAK2	104487102	0.341000	0.24801	0.989000	0.46669	0.086000	0.17979	0.566000	0.23593	1.197000	0.43143	0.397000	0.26171	ATG	.		0.622	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420	
TMEM121	80757	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	105995324	105995324	+	Silent	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:105995324C>T	ENST00000392519.2	+	2	317	c.153C>T	c.(151-153)tgC>tgT	p.C51C	TMEM121_ENST00000431372.1_Silent_p.C51C	NM_025268.2	NP_079544.1	Q9BTD3	TM121_HUMAN	transmembrane protein 121	51						integral component of membrane (GO:0016021)				endometrium(2)|lung(1)	3		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.0959)|all cancers(159;0.235)		GCGACGTGTGCTTCCTGCTGG	0.652																																					p.C51C		.											.	TMEM121-90	0			c.C153T						.						122.0	105.0	111.0					14																	105995324		2203	4298	6501	SO:0001819	synonymous_variant	80757	exon2			CGTGTGCTTCCTG		CCDS10006.1	14q32.33	2006-02-16			ENSG00000184986	ENSG00000184986			20511	protein-coding gene	gene with protein product						12204283	Standard	NM_025268		Approved	MGC4659, hole	uc001yrp.1	Q9BTD3	OTTHUMG00000029912	ENST00000392519.2:c.153C>T	14.37:g.105995324C>T		32	0		157	65	NM_025268	0	0	2	3	1		Silent	SNP	ENST00000392519.2	37	CCDS10006.1																																																																																			.		0.652	TMEM121-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074621.2	NM_025268	
OR4M2	390538	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	15	22369302	22369302	+	Missense_Mutation	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:22369302T>C	ENST00000332663.2	+	1	825	c.727T>C	c.(727-729)Tat>Cat	p.Y243H	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	243						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GTCCACCTGCTATTCCCACAT	0.453																																					p.Y243H		.											.	OR4M2-69	0			c.T727C						.						269.0	193.0	218.0					15																	22369302		2203	4298	6501	SO:0001583	missense	390538	exon1			ACCTGCTATTCCC	AC060768	CCDS32172.1	15q11.2	2013-09-23			ENSG00000182974	ENSG00000182974		"""GPCR / Class A : Olfactory receptors"""	15373	protein-coding gene	gene with protein product							Standard	NM_001004719		Approved		uc010tzu.2	Q8NGB6	OTTHUMG00000171738	ENST00000332663.2:c.727T>C	15.37:g.22369302T>C	ENSP00000329467:p.Tyr243His	430	0		488	72	NM_001004719	0	0	0	0	0	B9EH16|Q6IEY2	Missense_Mutation	SNP	ENST00000332663.2	37	CCDS32172.1	.	.	.	.	.	.	.	.	.	.	.	13.15	2.151382	0.38021	.	.	ENSG00000182974	ENST00000332663	T	0.36878	1.23	2.28	2.28	0.28536	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45126	D	0.000398	T	0.36552	0.0971	L	0.27053	0.805	0.28100	N	0.931462	D	0.61697	0.99	D	0.63033	0.91	T	0.08994	-1.0695	10	0.72032	D	0.01	-11.7473	4.6129	0.12411	0.2859:0.0:0.0:0.7141	.	243	Q8NGB6	OR4M2_HUMAN	H	243	ENSP00000329467:Y243H	ENSP00000329467:Y243H	Y	+	1	0	OR4M2	19870666	0.000000	0.05858	1.000000	0.80357	0.994000	0.84299	-0.364000	0.07583	1.068000	0.40764	0.368000	0.22195	TAT	.		0.453	OR4M2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414921.1		
NPAP1	23742	hgsc.bcm.edu	37	15	24921082	24921082	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:24921082G>A	ENST00000329468.2	+	1	542	c.68G>A	c.(67-69)gGc>gAc	p.G23D		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	23					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											CCAGGGCGTGGCGCCCCCGCT	0.687																																					p.G23D		.											.	.	0			c.G68A						.						5.0	8.0	7.0					15																	24921082		1804	3755	5559	SO:0001583	missense	23742	exon1			GGCGTGGCGCCCC	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.68G>A	15.37:g.24921082G>A	ENSP00000333735:p.Gly23Asp	4	0		48	25	NM_018958	0	0	0	0	0		Missense_Mutation	SNP	ENST00000329468.2	37	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	8.526	0.869975	0.17322	.	.	ENSG00000185823	ENST00000329468	T	0.06068	3.35	2.42	-3.93	0.04143	.	.	.	.	.	T	0.03390	0.0098	L	0.29908	0.895	0.09310	N	1	B	0.28378	0.209	B	0.18561	0.022	T	0.39313	-0.9620	9	0.52906	T	0.07	.	0.5662	0.00687	0.3925:0.178:0.2496:0.1799	.	23	Q9NZP6	CO002_HUMAN	D	23	ENSP00000333735:G23D	ENSP00000333735:G23D	G	+	2	0	C15orf2	22472175	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.174000	0.09839	-1.056000	0.03205	-1.512000	0.00943	GGC	.		0.687	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958	
HERC2	8924	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	28377252	28377252	+	Silent	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:28377252A>G	ENST00000261609.7	-	81	12672	c.12564T>C	c.(12562-12564)ccT>ccC	p.P4188P		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)		ATACCTTCATAGGCACTTTAC	0.632																																					p.P4188P		.											.	HERC2-234	0			c.T12564C						.						56.0	50.0	52.0					15																	28377252		2202	4300	6502	SO:0001819	synonymous_variant	8924	exon81			CTTCATAGGCACT	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.12564T>C	15.37:g.28377252A>G		252	0		257	114	NM_004667	0	0	0	0	0		Silent	SNP	ENST00000261609.7	37	CCDS10021.1																																																																																			.		0.632	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667	
HERC2	8924	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	28408358	28408358	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:28408358G>A	ENST00000261609.7	-	69	10736	c.10628C>T	c.(10627-10629)gCg>gTg	p.A3543V		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)		AGTGTCATCCGCAATCAGCAG	0.552																																					p.A3543V		.											.	HERC2-234	0			c.C10628T						.						126.0	111.0	116.0					15																	28408358		2203	4300	6503	SO:0001583	missense	8924	exon69			TCATCCGCAATCA	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.10628C>T	15.37:g.28408358G>A	ENSP00000261609:p.Ala3543Val	57	0		73	34	NM_004667	0	0	5	11	6		Missense_Mutation	SNP	ENST00000261609.7	37	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	G	13.78	2.339261	0.41398	.	.	ENSG00000128731	ENST00000261609	T	0.38240	1.15	5.05	1.98	0.26296	.	0.261816	0.36854	N	0.002367	T	0.18467	0.0443	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.18587	-1.0332	10	0.54805	T	0.06	.	10.103	0.42517	0.227:0.0:0.773:0.0	.	3543	O95714	HERC2_HUMAN	V	3543	ENSP00000261609:A3543V	ENSP00000261609:A3543V	A	-	2	0	HERC2	26081953	1.000000	0.71417	0.000000	0.03702	0.681000	0.39784	5.661000	0.68025	0.191000	0.20236	0.655000	0.94253	GCG	.		0.552	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667	
HERC2	8924	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	28443647	28443647	+	Missense_Mutation	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:28443647A>G	ENST00000261609.7	-	50	7996	c.7888T>C	c.(7888-7890)Tat>Cat	p.Y2630H		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)		GGTGGAGGATAGCCTACAGAT	0.378																																					p.Y2630H		.											.	HERC2-234	0			c.T7888C						.						56.0	59.0	58.0					15																	28443647		2203	4300	6503	SO:0001583	missense	8924	exon50			GAGGATAGCCTAC	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.7888T>C	15.37:g.28443647A>G	ENSP00000261609:p.Tyr2630His	106	0		127	55	NM_004667	0	0	0	0	0		Missense_Mutation	SNP	ENST00000261609.7	37	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	A	15.40	2.821035	0.50633	.	.	ENSG00000128731	ENST00000261609	T	0.37058	1.22	5.53	5.53	0.82687	CPH domain (1);	0.119868	0.56097	D	0.000035	T	0.28896	0.0717	N	0.03115	-0.41	0.41867	D	0.990252	P;P	0.48589	0.912;0.801	P;P	0.54629	0.757;0.678	T	0.24261	-1.0165	10	0.14656	T	0.56	.	15.6521	0.77104	1.0:0.0:0.0:0.0	.	97;2630	A8KAQ8;O95714	.;HERC2_HUMAN	H	2630	ENSP00000261609:Y2630H	ENSP00000261609:Y2630H	Y	-	1	0	HERC2	26117242	1.000000	0.71417	0.993000	0.49108	0.800000	0.45204	9.219000	0.95173	2.096000	0.63516	0.454000	0.30748	TAT	.		0.378	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667	
HERC2	8924	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	28473416	28473416	+	Silent	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:28473416A>G	ENST00000261609.7	-	35	5520	c.5412T>C	c.(5410-5412)ctT>ctC	p.L1804L		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)		AATTGAGCAGAAGGTCGAGGT	0.607																																					p.L1804L		.											.	HERC2-234	0			c.T5412C						.						78.0	60.0	66.0					15																	28473416		2203	4300	6503	SO:0001819	synonymous_variant	8924	exon35			GAGCAGAAGGTCG	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.5412T>C	15.37:g.28473416A>G		45	0		62	28	NM_004667	0	0	1	2	1		Silent	SNP	ENST00000261609.7	37	CCDS10021.1																																																																																			.		0.607	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667	
APBA2	321	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	29409295	29409295	+	Missense_Mutation	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:29409295T>C	ENST00000558402.1	+	16	2808	c.2209T>C	c.(2209-2211)Ttc>Ctc	p.F737L	APBA2_ENST00000558259.1_Missense_Mutation_p.F737L|APBA2_ENST00000561069.1_Missense_Mutation_p.F737L|APBA2_ENST00000558330.1_Missense_Mutation_p.F725L|APBA2_ENST00000411764.1_Missense_Mutation_p.F725L			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	737					in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		CGCCGCCATGTTCAGGCTCCT	0.662																																					p.F737L		.											.	APBA2-90	0			c.T2209C						.						72.0	67.0	69.0					15																	29409295		2203	4300	6503	SO:0001583	missense	321	exon14			GCCATGTTCAGGC	AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"""X11-like"", ""amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"""	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.2209T>C	15.37:g.29409295T>C	ENSP00000453293:p.Phe737Leu	151	0		253	117	NM_005503	0	0	6	14	8	E9PGI4|O60571|Q5XKC0	Missense_Mutation	SNP	ENST00000558402.1	37	CCDS10022.1	.	.	.	.	.	.	.	.	.	.	T	35	5.557613	0.96514	.	.	ENSG00000034053	ENST00000411764;ENST00000219865	T	0.39229	1.09	5.28	5.28	0.74379	PDZ/DHR/GLGF (1);	0.061026	0.64402	D	0.000004	T	0.60625	0.2283	M	0.64404	1.975	0.80722	D	1	D;P	0.58268	0.982;0.877	D;P	0.67548	0.952;0.519	T	0.64457	-0.6403	10	0.87932	D	0	.	14.4052	0.67079	0.0:0.0:0.0:1.0	.	725;737	E9PGI4;Q99767	.;APBA2_HUMAN	L	725;737	ENSP00000409312:F725L	ENSP00000219865:F737L	F	+	1	0	APBA2	27196587	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.842000	0.86851	1.991000	0.58162	0.528000	0.53228	TTC	.		0.662	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3	NM_005503	
CHRFAM7A	89832	ucsc.edu;bcgsc.ca	37	15	30659681	30659681	+	Silent	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:30659681C>T	ENST00000299847.2	-	9	1113	c.660G>A	c.(658-660)gtG>gtA	p.V220V	CHRFAM7A_ENST00000397827.3_Silent_p.V129V|CHRFAM7A_ENST00000401522.3_Silent_p.V129V	NM_139320.1	NP_647536.1	Q494W8	CRFM7_HUMAN	CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion	220						integral component of membrane (GO:0016021)	extracellular ligand-gated ion channel activity (GO:0005230)			large_intestine(3)|lung(1)|skin(2)	6		all_lung(180;3.42e-11)|Breast(32;0.000153)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		CGATCACCGTCACCACCACCG	0.642																																					p.V220V		.											.	CHRFAM7A-45	0			c.G660A						.						167.0	135.0	146.0					15																	30659681		2191	4289	6480	SO:0001819	synonymous_variant	89832	exon9			CACCGTCACCACC	AF029838	CCDS32184.1, CCDS42008.1	15q13.2	2013-04-24	2006-02-01		ENSG00000166664	ENSG00000166664			15781	protein-coding gene	gene with protein product		609756				11829490	Standard	NM_139320		Approved	D-10, CHRNA7-DR1	uc001zdt.1	Q494W8	OTTHUMG00000175645	ENST00000299847.2:c.660G>A	15.37:g.30659681C>T		1366	3		1852	385	NM_139320	0	0	2	2	0	A8KAB9	Silent	SNP	ENST00000299847.2	37	CCDS32184.1																																																																																			.		0.642	CHRFAM7A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430700.1	NM_148911	
CASC5	57082	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	40914476	40914476	+	Missense_Mutation	SNP	A	A	G	rs73394756	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:40914476A>G	ENST00000346991.5	+	11	2482	c.2092A>G	c.(2092-2094)Ata>Gta	p.I698V	CASC5_ENST00000527044.1_3'UTR|CASC5_ENST00000399668.2_Missense_Mutation_p.I672V			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	698	Interaction with BUB1 and BUB1B.				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)		AAGCCATAATATAGTCTACTG	0.348																																					p.I698V		.											.	CASC5-660	0			c.A2092G						.						74.0	73.0	73.0					15																	40914476		1815	4078	5893	SO:0001583	missense	57082	exon11			CATAATATAGTCT	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.2092A>G	15.37:g.40914476A>G	ENSP00000335463:p.Ile698Val	49	0		67	32	NM_170589	0	0	2	5	3	Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Missense_Mutation	SNP	ENST00000346991.5	37	CCDS42023.1	.	.	.	.	.	.	.	.	.	.	A	0.001	-3.101403	0.00033	.	.	ENSG00000137812	ENST00000346991;ENST00000260369;ENST00000399668	T;T	0.08102	3.13;3.13	3.88	1.53	0.23141	.	0.000000	0.40144	U	0.001171	T	0.05914	0.0154	L	0.33485	1.01	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.10450	0.002;0.002;0.005	T	0.44997	-0.9291	10	0.13470	T	0.59	.	9.3642	0.38215	0.7568:0.0:0.2432:0.0	.	672;698;672	Q8NG31-2;Q8NG31;Q8NG31-4	.;CASC5_HUMAN;.	V	698;672;672	ENSP00000335463:I698V;ENSP00000382576:I672V	ENSP00000260369:I672V	I	+	1	0	CASC5	38701768	0.000000	0.05858	0.008000	0.14137	0.267000	0.26476	0.063000	0.14410	-0.145000	0.11294	-1.481000	0.00988	ATA	A|0.994;C|0.006		0.348	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390224.2	NM_144508	
MGA	23269	broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	42059314	42059314	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:42059314C>T	ENST00000570161.1	+	23	9034	c.9034C>T	c.(9034-9036)Cct>Tct	p.P3012S	MGA_ENST00000566586.1_Missense_Mutation_p.P2803S|MGA_ENST00000389936.4_Missense_Mutation_p.P2973S|MGA_ENST00000545763.1_Missense_Mutation_p.P2803S|MGA_ENST00000219905.7_Missense_Mutation_p.P3012S			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CAAGGTGATGCCTTGTTTGGC	0.488																																					p.P3012S		.											.	MGA-522	0			c.C9034T						.						119.0	116.0	117.0					15																	42059314		1974	4166	6140	SO:0001583	missense	23269	exon24			GTGATGCCTTGTT	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.9034C>T	15.37:g.42059314C>T	ENSP00000457035:p.Pro3012Ser	174	1		196	87	NM_001164273	0	0	5	12	7	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	37	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	C	18.15	3.560235	0.65538	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.91792	-2.82;-2.78;-2.91	5.65	5.65	0.86999	.	0.000000	0.51477	D	0.000089	D	0.93700	0.7987	L	0.27053	0.805	0.36592	D	0.874139	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.95254	0.8362	10	0.87932	D	0	.	19.9142	0.97043	0.0:1.0:0.0:0.0	.	2803;3012	F5H7K2;E7ENI0	.;.	S	3012;2973;2803	ENSP00000219905:P3012S;ENSP00000374586:P2973S;ENSP00000442467:P2803S	ENSP00000219905:P3012S	P	+	1	0	MGA	39846606	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.759000	0.55227	2.941000	0.99782	0.655000	0.94253	CCT	.		0.488	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1	
SPTBN5	51332	broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	42149686	42149686	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:42149686G>A	ENST00000320955.6	-	51	8598	c.8371C>T	c.(8371-8373)Cgt>Tgt	p.R2791C		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	2791					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CGCCGCAGACGCAGGGCCTAG	0.672																																					p.R2756C		.											.	SPTBN5-91	0			c.C8266T						.						25.0	29.0	28.0					15																	42149686		2015	4172	6187	SO:0001583	missense	51332	exon51			GCAGACGCAGGGC	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.8371C>T	15.37:g.42149686G>A	ENSP00000317790:p.Arg2791Cys	104	1		117	62	NM_016642	0	0	0	0	0		Missense_Mutation	SNP	ENST00000320955.6	37		.	.	.	.	.	.	.	.	.	.	.	5.617	0.298623	0.10622	.	.	ENSG00000137877	ENST00000320955	T	0.53640	0.61	4.2	-0.019	0.13961	.	0.389296	0.23062	N	0.052371	T	0.30198	0.0757	L	0.31294	0.92	0.31171	N	0.703215	B	0.17465	0.022	B	0.15484	0.013	T	0.14227	-1.0480	10	0.72032	D	0.01	.	5.8816	0.18858	0.1491:0.0:0.5842:0.2667	.	2791	Q9NRC6	SPTN5_HUMAN	C	2791	ENSP00000317790:R2791C	ENSP00000317790:R2791C	R	-	1	0	SPTBN5	39936978	0.712000	0.27916	0.011000	0.14972	0.050000	0.14768	1.075000	0.30716	-0.183000	0.10585	-1.510000	0.00946	CGT	.		0.672	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642	
LRRC57	255252	bcgsc.ca	37	15	42837435	42837435	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:42837435G>A	ENST00000323443.2	-	4	885	c.518C>T	c.(517-519)tCt>tTt	p.S173F	LRRC57_ENST00000397130.3_Missense_Mutation_p.S173F|LRRC57_ENST00000563454.1_Missense_Mutation_p.S173F			Q8N9N7	LRC57_HUMAN	leucine rich repeat containing 57	173						extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|lung(5)|prostate(1)	8		all_cancers(109;1.99e-12)|all_epithelial(112;5.11e-11)|Lung NSC(122;4.53e-07)|all_lung(180;1.64e-06)|Melanoma(134;0.0262)		GBM - Glioblastoma multiforme(94;6.87e-07)		TGGACAGCAAGATATCTTCAC	0.393																																					p.S173F		.											.	LRRC57-90	0			c.C518T						.						72.0	69.0	70.0					15																	42837435		2203	4299	6502	SO:0001583	missense	255252	exon5			CAGCAAGATATCT	AK094891	CCDS10089.1	15q15.1	2006-02-13			ENSG00000180979	ENSG00000180979			26719	protein-coding gene	gene with protein product							Standard	NM_153260		Approved	FLJ36812	uc001zqc.3	Q8N9N7	OTTHUMG00000130679	ENST00000323443.2:c.518C>T	15.37:g.42837435G>A	ENSP00000326817:p.Ser173Phe	35	1		49	25	NM_153260	0	0	16	32	16	Q7Z2Z6|Q8N1T6	Missense_Mutation	SNP	ENST00000323443.2	37	CCDS10089.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.840297	0.91117	.	.	ENSG00000180979	ENST00000323443;ENST00000397130	T;T	0.54675	0.56;0.56	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.68696	0.3029	M	0.75615	2.305	0.80722	D	1	D	0.62365	0.991	P	0.55161	0.77	T	0.73404	-0.3993	10	0.87932	D	0	.	19.0849	0.93200	0.0:0.0:1.0:0.0	.	173	Q8N9N7	LRC57_HUMAN	F	173	ENSP00000326817:S173F;ENSP00000380319:S173F	ENSP00000326817:S173F	S	-	2	0	LRRC57	40624727	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.255000	0.78338	2.520000	0.84964	0.557000	0.71058	TCT	.		0.393	LRRC57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253174.1	NM_153260	
SPG11	80208	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	44918706	44918706	+	Splice_Site	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:44918706C>T	ENST00000261866.7	-	11	2084		c.e11-1		SPG11_ENST00000427534.2_Splice_Site|SPG11_ENST00000559193.1_Splice_Site|SPG11_ENST00000535302.2_Splice_Site|SPG11_ENST00000558319.1_Splice_Site	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)						cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		CAATAACTTCCTAGGAAAAGA	0.333																																					.		.											.	SPG11-95	0			c.2068-1G>A						.						74.0	77.0	76.0					15																	44918706		2198	4297	6495	SO:0001630	splice_region_variant	80208	exon12			AACTTCCTAGGAA		CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.2068-1G>A	15.37:g.44918706C>T		35	0		46	22	NM_025137	0	0	0	0	0	A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Splice_Site	SNP	ENST00000261866.7	37	CCDS10112.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.140241	0.77775	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	.	.	.	5.92	5.92	0.95590	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0937	0.89481	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SPG11	42705998	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	5.888000	0.69758	2.809000	0.96659	0.655000	0.94253	.	.		0.333	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1		Intron
SEMA6D	80031	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	48054484	48054484	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:48054484G>A	ENST00000316364.5	+	8	1065	c.626G>A	c.(625-627)cGc>cAc	p.R209H	SEMA6D_ENST00000355997.3_Missense_Mutation_p.R209H|SEMA6D_ENST00000389428.3_Missense_Mutation_p.R209H|SEMA6D_ENST00000389433.2_Missense_Mutation_p.R209H|SEMA6D_ENST00000389425.3_Missense_Mutation_p.R209H|SEMA6D_ENST00000354744.4_Missense_Mutation_p.R209H|SEMA6D_ENST00000558816.1_Missense_Mutation_p.R209H|SEMA6D_ENST00000558014.1_Missense_Mutation_p.R209H|SEMA6D_ENST00000389432.2_Missense_Mutation_p.R209H|SEMA6D_ENST00000537942.1_Missense_Mutation_p.R209H|SEMA6D_ENST00000536845.2_Missense_Mutation_p.R209H|SEMA6D_ENST00000358066.4_Missense_Mutation_p.R209H	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	209	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		TCTGCCCTTCGCACAATAAAA	0.498																																					p.R209H		.											.	SEMA6D-138	0			c.G626A						.						119.0	105.0	110.0					15																	48054484		2198	4297	6495	SO:0001583	missense	80031	exon8			CCCTTCGCACAAT	AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"""Semaphorins"""	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.626G>A	15.37:g.48054484G>A	ENSP00000324857:p.Arg209His	85	1		83	23	NM_153617	0	0	0	0	0	A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Missense_Mutation	SNP	ENST00000316364.5	37	CCDS32225.1	.	.	.	.	.	.	.	.	.	.	G	36	5.684151	0.96774	.	.	ENSG00000137872	ENST00000537942;ENST00000536845;ENST00000316364;ENST00000389433;ENST00000389432;ENST00000354744;ENST00000358066;ENST00000389428;ENST00000355997;ENST00000389425	T;T;T;T;T;T;T;T;T;T	0.13420	2.59;2.59;2.59;2.59;2.59;2.59;2.59;2.59;2.59;2.59	5.95	5.95	0.96441	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.55033	0.1895	H	0.96208	3.785	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	0.998;0.998;0.999;1.0;0.998	T	0.68595	-0.5367	10	0.87932	D	0	.	20.3931	0.98965	0.0:0.0:1.0:0.0	.	209;209;209;209;209	Q8NFY4-3;A6NM95;Q8NFY4-4;Q8NFY4;Q8NFY4-2	.;.;.;SEM6D_HUMAN;.	H	209	ENSP00000442040:R209H;ENSP00000446152:R209H;ENSP00000324857:R209H;ENSP00000374084:R209H;ENSP00000374083:R209H;ENSP00000346786:R209H;ENSP00000350770:R209H;ENSP00000374079:R209H;ENSP00000348276:R209H;ENSP00000374076:R209H	ENSP00000324857:R209H	R	+	2	0	SEMA6D	45841776	1.000000	0.71417	0.997000	0.53966	0.936000	0.57629	9.476000	0.97823	2.824000	0.97209	0.655000	0.94253	CGC	.		0.498	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966	
FBN1	2200	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	48764789	48764789	+	Missense_Mutation	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:48764789T>C	ENST00000316623.5	-	35	4750	c.4295A>G	c.(4294-4296)gAc>gGc	p.D1432G		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1432	EGF-like 24; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				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)		GAAGCCCATGTCGCATTCACA	0.522																																					p.D1432G		.											.	FBN1-92	0			c.A4295G						.						144.0	134.0	137.0					15																	48764789		2198	4296	6494	SO:0001583	missense	2200	exon35			CCCATGTCGCATT	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.4295A>G	15.37:g.48764789T>C	ENSP00000325527:p.Asp1432Gly	112	0		137	51	NM_000138	0	0	21	25	4	B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	T	27.6	4.845446	0.91197	.	.	ENSG00000166147	ENST00000316623;ENST00000544030	D	0.87103	-2.21	5.81	5.81	0.92471	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.85974	0.5822	N	0.20328	0.56	0.80722	D	1	P	0.52170	0.951	P	0.54431	0.752	D	0.87707	0.2564	10	0.56958	D	0.05	.	15.8292	0.78739	0.0:0.0:0.0:1.0	.	1432	P35555	FBN1_HUMAN	G	1432;322	ENSP00000325527:D1432G	ENSP00000325527:D1432G	D	-	2	0	FBN1	46552081	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.040000	0.89188	2.218000	0.71995	0.528000	0.53228	GAC	.		0.522	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1		
FBN1	2200	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	48788314	48788314	+	Missense_Mutation	SNP	T	T	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:48788314T>A	ENST00000316623.5	-	20	2857	c.2402A>T	c.(2401-2403)gAt>gTt	p.D801V		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	801	EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				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)		TGTTTTTAGATCAGGTTTGTA	0.363																																					p.D801V		.											.	FBN1-92	0			c.A2402T						.						129.0	135.0	133.0					15																	48788314		2197	4296	6493	SO:0001583	missense	2200	exon20			TTTAGATCAGGTT	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.2402A>T	15.37:g.48788314T>A	ENSP00000325527:p.Asp801Val	220	0		214	92	NM_000138	0	0	6	9	3	B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.530301	0.85706	.	.	ENSG00000166147	ENST00000316623	D	0.88124	-2.34	6.06	6.06	0.98353	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.299133	0.40908	D	0.000998	D	0.88168	0.6364	M	0.64630	1.985	0.80722	D	1	B	0.31413	0.322	B	0.39185	0.293	D	0.87496	0.2430	10	0.66056	D	0.02	.	15.4485	0.75253	0.0:0.0:0.0:1.0	.	801	P35555	FBN1_HUMAN	V	801	ENSP00000325527:D801V	ENSP00000325527:D801V	D	-	2	0	FBN1	46575606	1.000000	0.71417	0.988000	0.46212	0.972000	0.66771	8.040000	0.89188	2.323000	0.78572	0.528000	0.53228	GAT	.		0.363	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1		
DTWD1	56986	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	49926737	49926737	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:49926737C>T	ENST00000251250.6	+	5	620	c.413C>T	c.(412-414)gCa>gTa	p.A138V	DTWD1_ENST00000559223.1_3'UTR|DTWD1_ENST00000415425.1_Missense_Mutation_p.A51V|DTWD1_ENST00000558653.1_Missense_Mutation_p.A138V|DTWD1_ENST00000403028.3_Missense_Mutation_p.A138V	NM_020234.5	NP_064619.2	Q8N5C7	DTWD1_HUMAN	DTW domain containing 1	138										endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;0.0384)		all cancers(107;3.27e-08)|GBM - Glioblastoma multiforme(94;7.6e-05)		TTTTAGGTTGCACTCATTTTT	0.289																																					p.A138V		.											.	DTWD1-226	0			c.C413T						.						42.0	46.0	44.0					15																	49926737		2195	4291	6486	SO:0001583	missense	56986	exon4			AGGTTGCACTCAT	BC032535	CCDS10132.1	15q21.2	2005-08-09			ENSG00000104047	ENSG00000104047			30926	protein-coding gene	gene with protein product							Standard	NM_020234		Approved	MDS009, MGC111207	uc001zxs.3	Q8N5C7	OTTHUMG00000131567	ENST00000251250.6:c.413C>T	15.37:g.49926737C>T	ENSP00000251250:p.Ala138Val	114	0		131	49	NM_001144955	0	0	0	0	0	Q567Q3|Q8WVG9|Q9NRU6	Missense_Mutation	SNP	ENST00000251250.6	37	CCDS10132.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.103494	0.00356	.	.	ENSG00000104047	ENST00000403028;ENST00000251250;ENST00000415425	T;T	0.16597	2.33;2.33	4.95	-2.31	0.06765	DTW (1);	0.332726	0.32015	N	0.006709	T	0.03520	0.0101	N	0.00507	-1.42	0.58432	D	0.999996	B;B	0.02656	0.0;0.0	B;B	0.08055	0.001;0.003	T	0.44952	-0.9294	9	.	.	.	-3.3314	11.1681	0.48556	0.0:0.4279:0.0:0.5721	.	51;138	Q8N5C7-2;Q8N5C7	.;DTWD1_HUMAN	V	138;138;51	ENSP00000385399:A138V;ENSP00000251250:A138V	.	A	+	2	0	DTWD1	47714029	0.594000	0.26849	0.098000	0.21074	0.002000	0.02628	0.952000	0.29149	-0.245000	0.09625	-0.140000	0.14226	GCA	.		0.289	DTWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254431.2	NM_020234	
SPPL2A	84888	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	15	51014348	51014350	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	AAG	AAG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:51014348_51014350delAAG	ENST00000261854.5	-	13	1572_1574	c.1298_1300delCTT	c.(1297-1302)tcttac>tac	p.S433del	SPPL2A_ENST00000559293.1_5'UTR	NM_032802.3	NP_116191.2	Q8TCT8	SPP2A_HUMAN	signal peptide peptidase like 2A	433					membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|regulation of immune response (GO:0050776)	extracellular vesicular exosome (GO:0070062)|Golgi-associated vesicle membrane (GO:0030660)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|protein homodimerization activity (GO:0042803)			endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15				all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)		TAGTATATGTAAGAAGAACCAGT	0.291																																					p.433_434del	Melanoma(50;790 1209 4069 22965 33125)	.											.	SPPL2A-90	0			c.1298_1300del						.																																			SO:0001651	inframe_deletion	84888	exon13			ATATGTAAGAAGA		CCDS10138.1	15q21.2	2012-02-21			ENSG00000138600	ENSG00000138600			30227	protein-coding gene	gene with protein product	"""intramembrane protease 3"", ""presenilin-like protein 2"""	608238				12077416, 12139484	Standard	NM_032802		Approved	IMP3, PSL2	uc001zyv.3	Q8TCT8	OTTHUMG00000131647	ENST00000261854.5:c.1298_1300delCTT	15.37:g.51014351_51014353delAAG	ENSP00000261854:p.Ser433del	28	0		29	14	NM_032802	0	0	0	0	0	B2RDS0|Q8TAW1|Q96SZ8	In_Frame_Del	DEL	ENST00000261854.5	37	CCDS10138.1																																																																																			.		0.291	SPPL2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254543.3	NM_032802	
CYP19A1	1588	broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	51514616	51514616	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:51514616G>A	ENST00000396402.1	-	5	711	c.558C>T	c.(556-558)gaC>gaT	p.D186D	CYP19A1_ENST00000396404.4_Silent_p.D186D|CYP19A1_ENST00000559878.1_Silent_p.D186D|CYP19A1_ENST00000260433.2_Silent_p.D186D|CYP19A1_ENST00000405913.3_Silent_p.D186D|CYP19A1_ENST00000557858.1_Silent_p.D186D|RP11-108K3.1_ENST00000559909.1_lincRNA	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN	cytochrome P450, family 19, subfamily A, polypeptide 1	186					androgen metabolic process (GO:0008209)|estrogen biosynthetic process (GO:0006703)|prostate gland growth (GO:0060736)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)	aromatase activity (GO:0070330)|electron carrier activity (GO:0009055)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Betamethasone(DB00443)|Bifonazole(DB04794)|Buserelin(DB06719)|Carbimazole(DB00389)|Chlorphenesin(DB00856)|Clomifene(DB00882)|Clotrimazole(DB00257)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Dinoprostone(DB00917)|Drostanolone(DB00858)|Econazole(DB01127)|Edetic Acid(DB00974)|Etomidate(DB00292)|Exemestane(DB00990)|Ketoconazole(DB01026)|Letrozole(DB01006)|Levomethadyl Acetate(DB01227)|Levonorgestrel(DB00367)|Mefloquine(DB00358)|Melatonin(DB01065)|Methadone(DB00333)|Methyltestosterone(DB06710)|Miconazole(DB01110)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nicotine(DB00184)|Paclitaxel(DB01229)|Raloxifene(DB00481)|Sulfathiazole(DB06147)|Tamoxifen(DB00675)|Terbinafine(DB00857)|Testolactone(DB00894)|Testosterone(DB00624)|Tioconazole(DB01007)|Trastuzumab(DB00072)	GGGTCAACACGTCCACATAGC	0.517																																					p.D186D	Melanoma(142;1016 1807 39614 48966 51721)	.											.	CYP19A1-93	0			c.C558T						.						182.0	136.0	151.0					15																	51514616		2196	4293	6489	SO:0001819	synonymous_variant	1588	exon6			CAACACGTCCACA	D14473	CCDS10139.1	15q21	2009-01-26	2003-02-14	2003-02-28	ENSG00000137869	ENSG00000137869		"""Cytochrome P450s"""	2594	protein-coding gene	gene with protein product		107910	"""cytochrome P450, subfamily XIX (aromatization of androgens)"""	CYP19		8477708	Standard	NM_031226		Approved	ARO, P-450AROM, CPV1, ARO1, CYAR, aromatase	uc001zza.4	P11511	OTTHUMG00000131747	ENST00000396402.1:c.558C>T	15.37:g.51514616G>A		327	2		383	206	NM_031226	0	0	6	9	3	Q16731|Q3B764|Q58FA0|Q8IYJ7	Silent	SNP	ENST00000396402.1	37	CCDS10139.1																																																																																			.		0.517	CYP19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254669.1		
DYX1C1	161582	ucsc.edu;bcgsc.ca	37	15	55790437	55790437	+	Missense_Mutation	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:55790437T>C	ENST00000321149.3	-	2	458	c.91A>G	c.(91-93)Acg>Gcg	p.T31A	DYX1C1_ENST00000457155.2_Missense_Mutation_p.T31A|DYX1C1_ENST00000380679.1_Missense_Mutation_p.T31A|DYX1C1_ENST00000448430.2_Missense_Mutation_p.T31A|DYX1C1_ENST00000348518.3_Missense_Mutation_p.T31A|DYX1C1-CCPG1_ENST00000565113.1_RNA	NM_130810.3	NP_570722.2	Q8WXU2	DYXC1_HUMAN	dyslexia susceptibility 1 candidate 1	31	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.|Mediates interaction with ESR1 and STUB1.				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)		AACACGTCCGTGTCTCTGACG	0.562																																					p.T31A		.											.	DYX1C1-91	0			c.A91G						.						47.0	44.0	45.0					15																	55790437		2193	4292	6485	SO:0001583	missense	161582	exon2			CGTCCGTGTCTCT		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.91A>G	15.37:g.55790437T>C	ENSP00000323275:p.Thr31Ala	175	3		227	99	NM_001033560	0	0	1	3	2	Q6P5Y9|Q8N1S6	Missense_Mutation	SNP	ENST00000321149.3	37	CCDS10154.1	.	.	.	.	.	.	.	.	.	.	T	13.75	2.330829	0.41297	.	.	ENSG00000256061	ENST00000420792;ENST00000448430;ENST00000380679;ENST00000457155;ENST00000321149;ENST00000348518	T;T;T;T;T	0.13196	2.61;2.61;2.61;2.61;2.61	4.82	1.4	0.22301	CS-like domain (1);CS domain (1);HSP20-like chaperone (1);	0.647156	0.13570	N	0.378125	T	0.01870	0.0059	N	0.00128	-2.045	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.001	T	0.43925	-0.9361	10	0.02654	T	1	-0.142	4.1087	0.10049	0.2913:0.5083:0.0:0.2004	.	31;31;31	Q8WXU2-3;Q8WXU2;Q8WXU2-2	.;DYXC1_HUMAN;.	A	31	ENSP00000403412:T31A;ENSP00000370054:T31A;ENSP00000402640:T31A;ENSP00000323275:T31A;ENSP00000299561:T31A	ENSP00000323275:T31A	T	-	1	0	DYX1C1	53577729	0.105000	0.21958	0.402000	0.26371	0.980000	0.70556	1.135000	0.31454	0.484000	0.27630	-0.408000	0.06270	ACG	.		0.562	DYX1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254976.1	NM_130810	
PRTG	283659	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	56032850	56032850	+	Nonsense_Mutation	SNP	T	T	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:56032850T>A	ENST00000561292.1	-	2	285	c.127A>T	c.(127-129)Aaa>Taa	p.K43*	PRTG_ENST00000389286.4_Nonsense_Mutation_p.K43*					protogenin											breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		TGTGGTTCTTTTACAAAAGAC	0.408																																					p.K43X		.											.	PRTG-92	0			c.A127T						.						66.0	63.0	64.0					15																	56032850		1834	4090	5924	SO:0001587	stop_gained	283659	exon2			GTTCTTTTACAAA	AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26373	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 5"""	613261	"""protogenin homolog (Gallus gallus)"""				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000561292.1:c.127A>T	15.37:g.56032850T>A	ENSP00000453335:p.Lys43*	52	0		76	39	NM_173814	0	0	0	0	0		Nonsense_Mutation	SNP	ENST00000561292.1	37		.	.	.	.	.	.	.	.	.	.	T	25.3	4.623486	0.87460	.	.	ENSG00000166450	ENST00000389286	.	.	.	5.82	3.48	0.39840	.	0.076236	0.49916	U	0.000127	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.7938	7.7667	0.28984	0.0:0.0729:0.1397:0.7874	.	.	.	.	X	43	.	ENSP00000373937:K43X	K	-	1	0	PRTG	53820142	1.000000	0.71417	0.992000	0.48379	0.980000	0.70556	3.816000	0.55658	0.441000	0.26529	0.533000	0.62120	AAA	.		0.408	PRTG-004	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000419360.1	NM_173814	
RORA	6095	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	15	60803784	60803785	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	TC	TC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:60803784_60803785delTC	ENST00000335670.6	-	5	560_561	c.460_461delGA	c.(460-462)gacfs	p.D154fs	RP11-219B17.1_ENST00000558140.1_RNA|RORA_ENST00000560004.1_5'UTR|RP11-219B17.1_ENST00000559824.1_RNA|RORA_ENST00000449337.2_Frame_Shift_Del_p.D99fs|RP11-219B17.1_ENST00000559902.1_RNA|RORA_ENST00000261523.5_Frame_Shift_Del_p.D187fs|RP11-219B17.1_ENST00000558235.1_RNA|RORA_ENST00000309157.4_Frame_Shift_Del_p.D179fs|RP11-219B17.1_ENST00000501579.2_RNA	NM_134261.2	NP_599023.1	P35398	RORA_HUMAN	RAR-related orphan receptor A	154	Hinge.				angiogenesis (GO:0001525)|cellular response to hypoxia (GO:0071456)|cellular response to sterol (GO:0036315)|cerebellar granule cell precursor proliferation (GO:0021930)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|circadian regulation of gene expression (GO:0032922)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|muscle cell differentiation (GO:0042692)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|nitric oxide biosynthetic process (GO:0006809)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of cholesterol homeostasis (GO:2000188)|regulation of glucose metabolic process (GO:0010906)|regulation of macrophage activation (GO:0043030)|regulation of smoothened signaling pathway (GO:0008589)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription involved in cell fate commitment (GO:0060850)|regulation of transcription, DNA-templated (GO:0006355)|T-helper 17 cell differentiation (GO:0072539)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	direct ligand regulated sequence-specific DNA binding transcription factor activity (GO:0098531)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|oxysterol binding (GO:0008142)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator binding (GO:0001223)|transcription corepressor binding (GO:0001222)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						ATACAAGCTGTCTCTCTGCTTT	0.5																																					p.187_187del		.											.	RORA-290	0			c.559_560del						.																																			SO:0001589	frameshift_variant	6095	exon6			AAGCTGTCTCTCT	U04897	CCDS10177.1, CCDS10178.1, CCDS10179.1, CCDS45271.1	15q21-q22	2013-01-16			ENSG00000069667	ENSG00000069667		"""Nuclear hormone receptors"""	10258	protein-coding gene	gene with protein product		600825				7926749	Standard	NM_134261		Approved	RZRA, ROR1, ROR2, ROR3, NR1F1	uc002agv.3	P35398	OTTHUMG00000132769	ENST00000335670.6:c.460_461delGA	15.37:g.60803788_60803789delTC	ENSP00000335087:p.Asp154fs	132	0		191	75	NM_134260	0	0	0	0	0	P35397|P35399|P45445|Q495X4|Q96H83	Frame_Shift_Del	DEL	ENST00000335670.6	37	CCDS10177.1																																																																																			.		0.500	RORA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256142.2		
TLN2	83660	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	63097938	63097938	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:63097938C>T	ENST00000561311.1	+	50	6847	c.6617C>T	c.(6616-6618)gCc>gTc	p.A2206V	TLN2_ENST00000306829.6_Missense_Mutation_p.A2206V			Q9Y4G6	TLN2_HUMAN	talin 2	2206					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						ATTGCTACTGCCAACCTGAGC	0.517																																					p.A2206V		.											.	TLN2-573	0			c.C6617T						.						91.0	77.0	82.0					15																	63097938		2203	4300	6503	SO:0001583	missense	83660	exon48			CTACTGCCAACCT	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.6617C>T	15.37:g.63097938C>T	ENSP00000453508:p.Ala2206Val	162	0		178	90	NM_015059	0	0	4	6	2	A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	C	36	5.615670	0.96649	.	.	ENSG00000171914	ENST00000306829	T	0.71817	-0.6	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.86810	0.6022	M	0.86420	2.815	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	D	0.87033	0.2136	10	0.52906	T	0.07	-17.5271	20.1184	0.97949	0.0:1.0:0.0:0.0	.	2206	Q9Y4G6	TLN2_HUMAN	V	2206	ENSP00000303476:A2206V	ENSP00000303476:A2206V	A	+	2	0	TLN2	60884991	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	7.776000	0.85560	2.769000	0.95229	0.655000	0.94253	GCC	.		0.517	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2		
FBXL22	283807	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	15	63893575	63893575	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:63893575C>T	ENST00000360587.2	+	2	474	c.434C>T	c.(433-435)tCa>tTa	p.S145L	USP3-AS1_ENST00000561256.1_RNA|USP3-AS1_ENST00000560962.1_RNA|USP3-AS1_ENST00000561191.1_RNA|FBXL22_ENST00000539570.3_Missense_Mutation_p.S139L|USP3-AS1_ENST00000560622.1_RNA|USP3-AS1_ENST00000559737.1_RNA|USP3-AS1_ENST00000558831.1_RNA	NM_203373.2	NP_976307.2	Q6P050	FXL22_HUMAN	F-box and leucine-rich repeat protein 22	145					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				lung(4)	4						GGACCGAAATCACCTCGGTGG	0.721																																					p.S145L		.											.	FBXL22-90	0			c.C434T						.						21.0	24.0	23.0					15																	63893575		2190	4263	6453	SO:0001583	missense	283807	exon2			CGAAATCACCTCG	BC065833	CCDS10187.1, CCDS10187.2	15q22.1	2012-04-05			ENSG00000197361	ENSG00000197361		"""F-boxes / Leucine-rich repeats"""	27537	protein-coding gene	gene with protein product		609088				12477932	Standard	NM_203373		Approved	Fbl22, FLJ39626	uc002amn.4	Q6P050	OTTHUMG00000132905	ENST00000360587.2:c.434C>T	15.37:g.63893575C>T	ENSP00000353794:p.Ser145Leu	27	0		51	26	NM_203373	0	0	0	0	0		Missense_Mutation	SNP	ENST00000360587.2	37	CCDS10187.2	.	.	.	.	.	.	.	.	.	.	c	16.09	3.024782	0.54683	.	.	ENSG00000197361	ENST00000360587;ENST00000539570	T;T	0.52983	0.64;0.65	1.85	-3.7	0.04437	.	0.229124	0.46145	D	0.000308	T	0.28665	0.0710	L	0.36672	1.1	0.18873	N	0.999989	B	0.02656	0.0	B	0.01281	0.0	T	0.04320	-1.0960	10	0.49607	T	0.09	-14.9683	4.9702	0.14111	0.0:0.1601:0.5506:0.2893	.	139	Q6P050	FXL22_HUMAN	L	145;139	ENSP00000353794:S145L;ENSP00000442112:S139L	ENSP00000353794:S145L	S	+	2	0	FBXL22	61680628	0.000000	0.05858	0.000000	0.03702	0.170000	0.22686	-1.154000	0.03166	-1.616000	0.01572	0.298000	0.19748	TCA	.		0.721	FBXL22-001	KNOWN	downstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256412.4	NM_203373	
HERC1	8925	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	63916523	63916523	+	Missense_Mutation	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:63916523T>C	ENST00000443617.2	-	72	13366	c.13279A>G	c.(13279-13281)Agc>Ggc	p.S4427G		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4427					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TGGGATGTGCTGTTCTGTAAC	0.428																																					p.S4427G		.											.	HERC1-666	0			c.A13279G						.						123.0	112.0	116.0					15																	63916523		1885	4126	6011	SO:0001583	missense	8925	exon72			ATGTGCTGTTCTG	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.13279A>G	15.37:g.63916523T>C	ENSP00000390158:p.Ser4427Gly	105	0		116	44	NM_003922	0	0	1	1	0	Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	T	13.48	2.249043	0.39797	.	.	ENSG00000103657	ENST00000443617	T	0.25414	1.8	5.3	5.3	0.74995	.	0.056069	0.64402	U	0.000003	T	0.19005	0.0456	N	0.22421	0.69	0.45330	D	0.99832	B	0.26002	0.139	B	0.19946	0.027	T	0.03473	-1.1033	10	0.34782	T	0.22	.	15.5441	0.76081	0.0:0.0:0.0:1.0	.	4427	Q15751	HERC1_HUMAN	G	4427	ENSP00000390158:S4427G	ENSP00000390158:S4427G	S	-	1	0	HERC1	61703576	1.000000	0.71417	0.995000	0.50966	0.972000	0.66771	5.806000	0.69150	2.113000	0.64589	0.533000	0.62120	AGC	.		0.428	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922	
CILP	8483	broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	65489585	65489585	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:65489585C>T	ENST00000261883.4	-	9	3205	c.3039G>A	c.(3037-3039)atG>atA	p.M1013I		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	1013					negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						GATCATAGAGCATCCCACTGC	0.597																																					p.M1013I		.											.	CILP-97	0			c.G3039A						.						93.0	69.0	77.0					15																	65489585		2202	4299	6501	SO:0001583	missense	8483	exon9			ATAGAGCATCCCA	AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1980	protein-coding gene	gene with protein product		603489				9722584, 9722583	Standard	NM_003613		Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.3039G>A	15.37:g.65489585C>T	ENSP00000261883:p.Met1013Ile	182	1		212	94	NM_003613	0	0	2	2	0	B2R8F7|Q6UW99|Q8IYI5	Missense_Mutation	SNP	ENST00000261883.4	37	CCDS10203.1	.	.	.	.	.	.	.	.	.	.	C	19.21	3.782867	0.70222	.	.	ENSG00000138615	ENST00000261883	T	0.10192	2.9	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.36276	0.0961	M	0.77103	2.36	0.80722	D	1	D	0.64830	0.994	D	0.72338	0.977	T	0.04855	-1.0922	10	0.56958	D	0.05	-27.7185	18.4768	0.90795	0.0:1.0:0.0:0.0	.	1013	O75339	CILP1_HUMAN	I	1013	ENSP00000261883:M1013I	ENSP00000261883:M1013I	M	-	3	0	CILP	63276638	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.795000	0.85887	2.608000	0.88229	0.655000	0.94253	ATG	.		0.597	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256829.1	NM_003613	
CILP	8483	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	65489631	65489631	+	Missense_Mutation	SNP	T	T	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:65489631T>G	ENST00000261883.4	-	9	3159	c.2993A>C	c.(2992-2994)cAg>cCg	p.Q998P		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	998					negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						GACATTGGGCTGGTCCCTGTC	0.592																																					p.Q998P		.											.	CILP-97	0			c.A2993C						.						80.0	65.0	70.0					15																	65489631		2202	4299	6501	SO:0001583	missense	8483	exon9			TTGGGCTGGTCCC	AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1980	protein-coding gene	gene with protein product		603489				9722584, 9722583	Standard	NM_003613		Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.2993A>C	15.37:g.65489631T>G	ENSP00000261883:p.Gln998Pro	139	0		186	71	NM_003613	0	0	1	1	0	B2R8F7|Q6UW99|Q8IYI5	Missense_Mutation	SNP	ENST00000261883.4	37	CCDS10203.1	.	.	.	.	.	.	.	.	.	.	T	12.39	1.922579	0.33908	.	.	ENSG00000138615	ENST00000261883	T	0.10099	2.91	5.54	4.43	0.53597	.	0.299613	0.37348	N	0.002138	T	0.13200	0.0320	L	0.44542	1.39	0.45648	D	0.998574	P	0.52842	0.956	P	0.48454	0.578	T	0.02774	-1.1112	10	0.33940	T	0.23	-27.4069	10.1594	0.42842	0.0:0.0777:0.0:0.9223	.	998	O75339	CILP1_HUMAN	P	998	ENSP00000261883:Q998P	ENSP00000261883:Q998P	Q	-	2	0	CILP	63276684	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.175000	0.42491	2.108000	0.64289	0.533000	0.62120	CAG	.		0.592	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256829.1	NM_003613	
NOX5	79400	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	69331288	69331288	+	Missense_Mutation	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:69331288A>G	ENST00000388866.3	+	9	1504	c.1463A>G	c.(1462-1464)gAg>gGg	p.E488G	NOX5_ENST00000448182.3_Missense_Mutation_p.E442G|NOX5_ENST00000260364.5_Missense_Mutation_p.E470G|NOX5_ENST00000530406.2_Missense_Mutation_p.E460G|NOX5_ENST00000455873.3_Missense_Mutation_p.E453G|RP11-809H16.4_ENST00000559495.1_RNA	NM_001184779.1|NM_024505.3	NP_001171708.1|NP_078781.3	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	488	C-terminal catalytic region.|FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cytokine secretion (GO:0050663)|cytokinesis (GO:0000910)|endothelial cell proliferation (GO:0001935)|oxidation-reduction process (GO:0055114)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|proton transport (GO:0015992)|regulation of fusion of sperm to egg plasma membrane (GO:0043012)|regulation of proton transport (GO:0010155)|superoxide anion generation (GO:0042554)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|hydrogen ion channel activity (GO:0015252)|NADP binding (GO:0050661)|superoxide-generating NADPH oxidase activity (GO:0016175)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						GCTCGCTATGAGTGGCACCCC	0.522																																					p.E488G		.											.	NOX5-136	0			c.A1463G						.						241.0	218.0	226.0					15																	69331288		2200	4298	6498	SO:0001583	missense	79400	exon9			GCTATGAGTGGCA	AF317889	CCDS32276.1, CCDS32276.2, CCDS53953.1, CCDS53954.1	15q22.31	2013-01-10			ENSG00000255346	ENSG00000255346		"""EF-hand domain containing"""	14874	protein-coding gene	gene with protein product		606572				11483596	Standard	NM_001184779		Approved	NOX5A, NOX5B	uc002ars.2	Q96PH1	OTTHUMG00000133320	ENST00000388866.3:c.1463A>G	15.37:g.69331288A>G	ENSP00000373518:p.Glu488Gly	119	0		163	80	NM_024505	0	0	0	0	0	B2RBJ4|Q08AN2|Q08AN3|Q8TEQ1|Q8TER4|Q96PH2|Q96PJ8|Q96PJ9|Q9H6E0|Q9HAM8	Missense_Mutation	SNP	ENST00000388866.3	37	CCDS32276.2	.	.	.	.	.	.	.	.	.	.	A	15.11	2.735293	0.48939	.	.	ENSG00000255346	ENST00000455873;ENST00000448182;ENST00000388866;ENST00000530406	D;D;D	0.92965	-3.14;-3.14;-3.14	3.43	3.43	0.39272	Riboflavin synthase-like beta-barrel (1);FAD-binding 8 (1);Ferredoxin reductase-type FAD-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.96275	0.8785	M	0.91872	3.25	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.96238	0.9173	10	0.87932	D	0	-12.3849	10.7243	0.46059	1.0:0.0:0.0:0.0	.	453;488;460	Q96PH1-6;Q96PH1;Q96PH1-3	.;NOX5_HUMAN;.	G	453;470;488;460	ENSP00000416828:E453G;ENSP00000373518:E488G;ENSP00000432440:E460G	ENSP00000373518:E488G	E	+	2	0	NOX5	67118342	1.000000	0.71417	0.918000	0.36340	0.168000	0.22595	7.344000	0.79328	1.212000	0.43366	0.260000	0.18958	GAG	.		0.522	NOX5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257124.2	NM_024505	
BBS4	585	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	73029922	73029922	+	Missense_Mutation	SNP	G	G	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:73029922G>C	ENST00000268057.4	+	16	1595	c.1554G>C	c.(1552-1554)gaG>gaC	p.E518D	BBS4_ENST00000539603.1_Missense_Mutation_p.E506D|BBS4_ENST00000395205.2_Missense_Mutation_p.E526D|BBS4_ENST00000542334.1_Missense_Mutation_p.E346D	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	518	Required for localization to centrosomes.				adult behavior (GO:0030534)|brain morphogenesis (GO:0048854)|centrosome organization (GO:0051297)|cerebral cortex development (GO:0021987)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|dendrite development (GO:0016358)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|hippocampus development (GO:0021766)|intracellular transport (GO:0046907)|maintenance of protein location in nucleus (GO:0051457)|melanosome transport (GO:0032402)|metabolic process (GO:0008152)|microtubule anchoring at centrosome (GO:0034454)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of systemic arterial blood pressure (GO:0003085)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of cilium assembly (GO:0045724)|positive regulation of multicellular organism growth (GO:0040018)|protein localization to centrosome (GO:0071539)|protein localization to organelle (GO:0033365)|protein transport (GO:0015031)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|regulation of cytokinesis (GO:0032465)|regulation of lipid metabolic process (GO:0019216)|retina homeostasis (GO:0001895)|retinal rod cell development (GO:0046548)|sensory perception of smell (GO:0007608)|sensory processing (GO:0050893)|spermatid development (GO:0007286)|striatum development (GO:0021756)|visual perception (GO:0007601)	BBSome (GO:0034464)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary membrane (GO:0060170)|cilium (GO:0005929)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|pericentriolar material (GO:0000242)	alpha-tubulin binding (GO:0043014)|beta-tubulin binding (GO:0048487)|dynactin binding (GO:0034452)|microtubule motor activity (GO:0003777)|RNA polymerase II repressing transcription factor binding (GO:0001103)			autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						AAATAAGAGAGAAATAAGAAT	0.483									Bardet-Biedl syndrome																												p.E518D		.											.	BBS4-90	0			c.G1554C						.						47.0	44.0	45.0					15																	73029922		2198	4297	6495	SO:0001583	missense	585	exon16	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AAGAGAGAAATAA	AF090947	CCDS10246.1, CCDS58377.1	15q22.3-q23	2013-01-10			ENSG00000140463	ENSG00000140463		"""Tetratricopeptide (TTC) repeat domain containing"""	969	protein-coding gene	gene with protein product		600374				7711739, 11381270	Standard	NM_033028		Approved		uc002avb.3	Q96RK4	OTTHUMG00000133510	ENST00000268057.4:c.1554G>C	15.37:g.73029922G>C	ENSP00000268057:p.Glu518Asp	50	0		59	24	NM_033028	0	0	9	20	11	B4E178|Q53DZ5|Q8NHU9|Q96H45	Missense_Mutation	SNP	ENST00000268057.4	37	CCDS10246.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.039953	0.75732	.	.	ENSG00000140463	ENST00000542334;ENST00000268057;ENST00000539603;ENST00000395205	T;T;T;T	0.75938	-0.82;-0.96;-0.95;-0.98	5.03	1.19	0.21007	.	0.779645	0.12084	N	0.501015	T	0.64800	0.2631	L	0.51422	1.61	0.26476	N	0.975189	P;B;B	0.35872	0.525;0.341;0.003	B;B;B	0.36092	0.217;0.167;0.003	T	0.57763	-0.7755	10	0.62326	D	0.03	-11.579	4.8162	0.13367	0.6557:0.1587:0.1856:0.0	.	506;526;518	F5H7I8;Q96RK4-2;Q96RK4	.;.;BBS4_HUMAN	D	346;518;506;526	ENSP00000445964:E346D;ENSP00000268057:E518D;ENSP00000442492:E506D;ENSP00000378631:E526D	ENSP00000268057:E518D	E	+	3	2	BBS4	70816975	0.003000	0.15002	0.979000	0.43373	0.615000	0.37417	-0.701000	0.05075	0.353000	0.24079	-0.367000	0.07326	GAG	.		0.483	BBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257473.2	NM_033028	
STRA6	64220	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	74487774	74487774	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:74487774C>T	ENST00000323940.5	-	7	711	c.466G>A	c.(466-468)Gcc>Acc	p.A156T	STRA6_ENST00000563965.1_Missense_Mutation_p.A195T|STRA6_ENST00000574278.1_Missense_Mutation_p.A171T|STRA6_ENST00000395105.4_Missense_Mutation_p.A156T|STRA6_ENST00000574439.1_5'UTR|STRA6_ENST00000416286.3_Missense_Mutation_p.A148T|STRA6_ENST00000449139.2_Missense_Mutation_p.A156T|STRA6_ENST00000423167.2_Missense_Mutation_p.A147T|STRA6_ENST00000535552.1_Missense_Mutation_p.A193T|STRA6_ENST00000432245.2_3'UTR	NM_001142617.1|NM_001142618.1|NM_001142619.1	NP_001136089.1|NP_001136090.1|NP_001136091.1	Q9BX79	STRA6_HUMAN	stimulated by retinoic acid 6	156					adrenal gland development (GO:0030325)|alveolar primary septum development (GO:0061143)|artery morphogenesis (GO:0048844)|blood vessel development (GO:0001568)|cognition (GO:0050890)|developmental growth (GO:0048589)|diaphragm development (GO:0060539)|digestive tract morphogenesis (GO:0048546)|ductus arteriosus closure (GO:0097070)|ear development (GO:0043583)|embryonic camera-type eye formation (GO:0060900)|embryonic digestive tract development (GO:0048566)|eyelid development in camera-type eye (GO:0061029)|face morphogenesis (GO:0060325)|feeding behavior (GO:0007631)|female genitalia development (GO:0030540)|head development (GO:0060322)|head morphogenesis (GO:0060323)|heart development (GO:0007507)|kidney development (GO:0001822)|learning (GO:0007612)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung vasculature development (GO:0060426)|neuromuscular process (GO:0050905)|nose morphogenesis (GO:0043585)|paramesonephric duct development (GO:0061205)|phototransduction, visible light (GO:0007603)|positive regulation of behavior (GO:0048520)|positive regulation of JAK-STAT cascade (GO:0046427)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol transport (GO:0034633)|smooth muscle tissue development (GO:0048745)|uterus morphogenesis (GO:0061038)|ventricular septum development (GO:0003281)|vitamin A import (GO:0071939)|vocal learning (GO:0042297)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	receptor activity (GO:0004872)|vitamin transporter activity (GO:0051183)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						TAGTAGAGGGCAGCATAATAG	0.627																																					p.A195T		.											.	STRA6-90	0			c.G583A						.						40.0	46.0	44.0					15																	74487774		2198	4297	6495	SO:0001583	missense	64220	exon7			AGAGGGCAGCATA	AF352728	CCDS10261.1, CCDS45301.1, CCDS45302.1, CCDS55973.1, CCDS55974.1, CCDS58387.1	15q24.1	2014-07-14	2012-12-07		ENSG00000137868	ENSG00000137868			30650	protein-coding gene	gene with protein product	"""retinol binding protein 4 receptor"""	610745	"""stimulated by retinoic acid gene 6 homolog (mouse)"", ""stimulated by retinoic acid 6 homolog (mouse)"""			17255476, 17273977	Standard	NM_022369		Approved	FLJ12541	uc002axj.3	Q9BX79	OTTHUMG00000138998	ENST00000323940.5:c.466G>A	15.37:g.74487774C>T	ENSP00000326085:p.Ala156Thr	79	0		101	35	NM_001199042	0	0	6	6	0	A8K7F1|B7Z5M9|B7Z862|D3DW54|F5GYI8|I3L1G8|Q6PJF8|Q71RB9|Q7L9G1|Q7Z3U9|Q8TB21|Q9BX78|Q9H9U8	Missense_Mutation	SNP	ENST00000323940.5	37	CCDS10261.1	.	.	.	.	.	.	.	.	.	.	C	16.51	3.143398	0.57044	.	.	ENSG00000137868	ENST00000395105;ENST00000323940;ENST00000416286;ENST00000449139;ENST00000423167;ENST00000535552;ENST00000536129	D;D;D;D	0.81908	-1.55;-1.55;-1.55;-1.55	5.23	4.28	0.50868	.	0.053759	0.85682	D	0.000000	D	0.88149	0.6359	M	0.74258	2.255	0.53005	D	0.999969	D;D;D;D;D	0.63046	0.992;0.992;0.992;0.992;0.992	P;P;P;P;P	0.59357	0.856;0.856;0.856;0.856;0.856	D	0.86599	0.1865	10	0.30854	T	0.27	-14.0218	13.4254	0.61022	0.0:0.8422:0.1578:0.0	.	193;194;147;156;195	F5GYI8;B7Z5G7;Q9BX79-3;Q9BX79;Q9BX79-4	.;.;.;STRA6_HUMAN;.	T	156;156;88;195;147;193;46	ENSP00000378537:A156T;ENSP00000326085:A156T;ENSP00000413012:A147T;ENSP00000440238:A193T	ENSP00000326085:A156T	A	-	1	0	STRA6	72274827	0.006000	0.16342	0.744000	0.31058	0.145000	0.21501	1.280000	0.33202	1.148000	0.42385	0.563000	0.77884	GCC	.		0.627	STRA6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272891.1		
C15orf39	56905	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	15	75498952	75498952	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:75498952G>A	ENST00000360639.2	+	2	883	c.563G>A	c.(562-564)gGc>gAc	p.G188D	C15orf39_ENST00000567617.1_Missense_Mutation_p.G188D|C15orf39_ENST00000394987.4_Missense_Mutation_p.G188D			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	188						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						ACTCTGGATGGCACCTTCTTG	0.617																																					p.G188D		.											.	C15orf39-90	0			c.G563A						.						43.0	47.0	46.0					15																	75498952		2196	4294	6490	SO:0001583	missense	56905	exon2			TGGATGGCACCTT	AK128205	CCDS10276.1	15q23	2013-03-14	2005-10-24		ENSG00000167173	ENSG00000167173			24497	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 38~Name Same As HGNC:28782"""				Standard	NM_015492		Approved	DKFZP434H132, FLJ46337	uc002azq.4	Q6ZRI6	OTTHUMG00000142820	ENST00000360639.2:c.563G>A	15.37:g.75498952G>A	ENSP00000353854:p.Gly188Asp	51	0		65	7	NM_015492	0	0	68	72	4	B3KWI3|C9J888|Q71JB1|Q7L3S0|Q8N3F2|Q96FB6|Q9NTU5	Missense_Mutation	SNP	ENST00000360639.2	37	CCDS10276.1	.	.	.	.	.	.	.	.	.	.	G	12.95	2.091586	0.36952	.	.	ENSG00000167173	ENST00000360639;ENST00000394987	T;T	0.65916	-0.18;-0.18	5.09	0.475	0.16774	.	0.294510	0.24594	N	0.037193	T	0.54208	0.1844	L	0.57536	1.79	0.20196	N	0.99993	B	0.16802	0.019	B	0.19946	0.027	T	0.54529	-0.8280	10	0.62326	D	0.03	-10.7338	9.3761	0.38283	0.0911:0.403:0.5059:0.0	.	188	Q6ZRI6	CO039_HUMAN	D	188	ENSP00000353854:G188D;ENSP00000378438:G188D	ENSP00000353854:G188D	G	+	2	0	C15orf39	73286005	0.003000	0.15002	0.434000	0.26772	0.888000	0.51559	0.634000	0.24614	0.505000	0.28104	0.556000	0.70494	GGC	.		0.617	C15orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286410.1	NM_015492	
C15orf39	56905	bcgsc.ca	37	15	75499374	75499374	+	Missense_Mutation	SNP	G	G	A	rs111653297	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:75499374G>A	ENST00000360639.2	+	2	1305	c.985G>A	c.(985-987)Gca>Aca	p.A329T	C15orf39_ENST00000567617.1_Missense_Mutation_p.A329T|C15orf39_ENST00000394987.4_Missense_Mutation_p.A329T			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	329						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						GAGGCAGCAGGCAGCCCAGGC	0.697																																					p.A329T		.											.	C15orf39-90	0			c.G985A						.						33.0	36.0	35.0					15																	75499374		2197	4294	6491	SO:0001583	missense	56905	exon2			CAGCAGGCAGCCC	AK128205	CCDS10276.1	15q23	2013-03-14	2005-10-24		ENSG00000167173	ENSG00000167173			24497	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 38~Name Same As HGNC:28782"""				Standard	NM_015492		Approved	DKFZP434H132, FLJ46337	uc002azq.4	Q6ZRI6	OTTHUMG00000142820	ENST00000360639.2:c.985G>A	15.37:g.75499374G>A	ENSP00000353854:p.Ala329Thr	112	3		147	58	NM_015492	0	0	13	28	15	B3KWI3|C9J888|Q71JB1|Q7L3S0|Q8N3F2|Q96FB6|Q9NTU5	Missense_Mutation	SNP	ENST00000360639.2	37	CCDS10276.1	.	.	.	.	.	.	.	.	.	.	G	11.77	1.736550	0.30774	.	.	ENSG00000167173	ENST00000360639;ENST00000394987	T;T	0.66638	-0.22;-0.22	4.74	2.46	0.29980	.	0.513863	0.17921	N	0.157481	T	0.54967	0.1891	L	0.48362	1.52	0.30360	N	0.783888	B	0.21753	0.06	B	0.17722	0.019	T	0.54728	-0.8250	10	0.44086	T	0.13	-4.7278	7.4476	0.27219	0.2398:0.0:0.7602:0.0	.	329	Q6ZRI6	CO039_HUMAN	T	329	ENSP00000353854:A329T;ENSP00000378438:A329T	ENSP00000353854:A329T	A	+	1	0	C15orf39	73286427	0.069000	0.21087	0.995000	0.50966	0.903000	0.53119	0.510000	0.22723	0.988000	0.38734	0.462000	0.41574	GCA	G|0.500;A|0.500		0.697	C15orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286410.1	NM_015492	
GOLGA6D	653643	hgsc.bcm.edu;broad.mit.edu	37	15	75586567	75586567	+	Frame_Shift_Del	DEL	C	C	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:75586567delC	ENST00000434739.3	+	17	1960	c.1919delC	c.(1918-1920)gccfs	p.A640fs	RN7SL327P_ENST00000488659.2_RNA	NM_001145224.1	NP_001138696.1	P0CG33	GOG6D_HUMAN	golgin A6 family, member D	640						Golgi apparatus (GO:0005794)				kidney(1)|lung(1)	2						GGGGCCCCAGCCCCCCAGGAA	0.652																																					p.A640fs		.											.	.	0			c.1919delC						.						1.0	1.0	1.0					15																	75586567		227	740	967	SO:0001589	frameshift_variant	653643	exon17			CCCCAGCCCCCCA		CCDS45308.1	15q24.2	2013-05-10	2010-02-12	2009-09-04	ENSG00000140478	ENSG00000140478			32204	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6D"""				Standard	NM_001145224		Approved		uc010uma.2	P0CG33	OTTHUMG00000172672	ENST00000434739.3:c.1919delC	15.37:g.75586567delC	ENSP00000391085:p.Ala640fs	206	0		223	36	NM_001145224	0	0	0	0	0		Frame_Shift_Del	DEL	ENST00000434739.3	37	CCDS45308.1																																																																																			.		0.652	GOLGA6D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419798.1	NM_001145224	
CSPG4	1464	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	75979767	75979767	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:75979767G>A	ENST00000308508.5	-	3	3731	c.3639C>T	c.(3637-3639)ttC>ttT	p.F1213F		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1213	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CTTCCACGGAGAAGGCCATGG	0.632																																					p.F1213F		.											.	CSPG4-229	0			c.C3639T						.						57.0	56.0	57.0					15																	75979767		2195	4294	6489	SO:0001819	synonymous_variant	1464	exon3			CACGGAGAAGGCC	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.3639C>T	15.37:g.75979767G>A		130	0		234	109	NM_001897	0	0	0	0	0	D3DW77|Q92675	Silent	SNP	ENST00000308508.5	37	CCDS10284.1																																																																																			.		0.632	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897	
PSMA4	5685	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	78838004	78838004	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:78838004G>A	ENST00000044462.7	+	7	555	c.405G>A	c.(403-405)ctG>ctA	p.L135L	PSMA4_ENST00000413382.2_Silent_p.L64L|PSMA4_ENST00000557929.1_3'UTR|PSMA4_ENST00000558341.1_Intron|PSMA4_ENST00000558094.1_Silent_p.L47L|PSMA4_ENST00000559082.1_Silent_p.L135L|PSMA4_ENST00000558281.1_Silent_p.L135L|PSMA4_ENST00000560217.1_Silent_p.L104L	NM_002789.4	NP_002780.1	P25789	PSA4_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 4	135					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)	threonine-type endopeptidase activity (GO:0004298)			kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						TTTCATTGCTGTACATTGGCT	0.398																																					p.L135L		.											.	PSMA4-90	0			c.G405A						.						214.0	212.0	212.0					15																	78838004		2196	4293	6489	SO:0001819	synonymous_variant	5685	exon7			ATTGCTGTACATT	BC005361	CCDS10303.1, CCDS45319.1	15q24.1	2004-01-19			ENSG00000041357	ENSG00000041357		"""Proteasome (prosome, macropain) subunits"""	9533	protein-coding gene	gene with protein product		176846				2025653	Standard	NM_002789		Approved	HC9, HsT17706	uc010blf.3	P25789	OTTHUMG00000143859	ENST00000044462.7:c.405G>A	15.37:g.78838004G>A		105	0		124	57	NM_001102667	0	0	108	230	122	D3DW86|Q53XP2|Q567Q5|Q8TBD1	Silent	SNP	ENST00000044462.7	37	CCDS10303.1																																																																																			.		0.398	PSMA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290107.5	NM_002789	
ST20	400410	broad.mit.edu;bcgsc.ca;mdanderson.org	37	15	80215735	80215735	+	Intron	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:80215735C>T	ENST00000485386.1	-	1	251				ST20-MTHFS_ENST00000479961.1_Intron|C15orf37_ENST00000560255.1_3'UTR|C15ORF37_ENST00000542003.1_Missense_Mutation_p.L73F|ST20-MTHFS_ENST00000494999.1_Intron			Q9HBF5	ST20_HUMAN	suppressor of tumorigenicity 20						extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)	mitochondrial outer membrane (GO:0005741)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			kidney(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						GCGCGAGCGGCTCCTCGGCTG	0.682																																					.		.											.	.	0			.						.																																			SO:0001627	intron_variant	283687	.			GAGCGGCTCCTCG	AF249277	CCDS42067.1	15q25.1	2007-07-16				ENSG00000180953			33520	protein-coding gene	gene with protein product							Standard	NM_001100879		Approved	HCCS-1		Q9HBF5		ENST00000485386.1:c.10+58G>A	15.37:g.80215735C>T		62	0		229	109	.	0	0	3	4	1		RNA	SNP	ENST00000485386.1	37	CCDS42067.1	.	.	.	.	.	.	.	.	.	.	C	5.037	0.192537	0.09599	.	.	ENSG00000257028	ENST00000542003	.	.	.	1.8	1.8	0.24995	.	.	.	.	.	T	0.60209	0.2251	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62647	-0.6810	5	0.87932	D	0	.	5.4699	0.16664	0.3298:0.6702:0.0:0.0	.	.	.	.	F	73	.	ENSP00000440412:L73F	L	+	1	0	AC015871.2	78002790	1.000000	0.71417	0.997000	0.53966	0.027000	0.11550	1.720000	0.38022	1.299000	0.44798	0.313000	0.20887	CTC	.		0.682	ST20-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416729.1		
TMC3	342125	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	81660598	81660598	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:81660598G>A	ENST00000359440.5	-	3	443	c.308C>T	c.(307-309)gCa>gTa	p.A103V	TMC3_ENST00000558726.1_Missense_Mutation_p.A103V	NM_001080532.1	NP_001074001.1			transmembrane channel-like 3											autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						TATTACCTCTGCACCTGCTGC	0.527																																					p.A103V		.											.	TMC3-70	0			c.C308T						.						161.0	162.0	162.0					15																	81660598		2022	4180	6202	SO:0001583	missense	342125	exon3			ACCTCTGCACCTG	AY263163	CCDS45324.1	15q24.3	2006-11-24				ENSG00000188869			22995	protein-coding gene	gene with protein product						12906855, 12812529	Standard	NM_001080532		Approved		uc021ssk.1	Q7Z5M5		ENST00000359440.5:c.308C>T	15.37:g.81660598G>A	ENSP00000352413:p.Ala103Val	88	0		97	35	NM_001080532	0	0	0	0	0		Missense_Mutation	SNP	ENST00000359440.5	37	CCDS45324.1	.	.	.	.	.	.	.	.	.	.	G	18.29	3.592042	0.66219	.	.	ENSG00000188869	ENST00000359440	T	0.65732	-0.17	5.65	3.7	0.42460	.	0.074115	0.52532	D	0.000068	T	0.53012	0.1770	L	0.45352	1.415	0.47374	D	0.999409	B;B	0.19445	0.004;0.036	B;B	0.19391	0.009;0.025	T	0.53542	-0.8424	10	0.51188	T	0.08	-14.7875	11.3447	0.49554	0.0689:0.1259:0.8052:0.0	.	103;103	Q7Z5M5-2;Q7Z5M5	.;TMC3_HUMAN	V	103	ENSP00000352413:A103V	ENSP00000352413:A103V	A	-	2	0	TMC3	79447653	1.000000	0.71417	0.898000	0.35279	0.956000	0.61745	6.529000	0.73812	1.325000	0.45301	0.655000	0.94253	GCA	.		0.527	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417795.3	NM_181841	
EFTUD1	79631	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	82512116	82512116	+	Silent	SNP	G	G	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:82512116G>T	ENST00000268206.7	-	14	1656	c.1488C>A	c.(1486-1488)ctC>ctA	p.L496L	EFTUD1_ENST00000359445.3_Silent_p.L445L	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	496					GTP catabolic process (GO:0006184)|mature ribosome assembly (GO:0042256)		GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribosome binding (GO:0043022)|translation elongation factor activity (GO:0003746)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						TTTCTTCCTGGAGCACAGGTT	0.428																																					p.L496L		.											.	EFTUD1-91	0			c.C1488A						.						70.0	64.0	66.0					15																	82512116		1832	4088	5920	SO:0001819	synonymous_variant	79631	exon14			TTCCTGGAGCACA	AK056656	CCDS42070.1, CCDS42071.1	15q25.2	2012-07-04			ENSG00000140598	ENSG00000140598			25789	protein-coding gene	gene with protein product	"""ribosome assembly 1 homolog (yeast)"""					14702039	Standard	NM_024580		Approved	FLJ13119, FAM42A, HsT19294, RIA1	uc002bgt.1	Q7Z2Z2	OTTHUMG00000172573	ENST00000268206.7:c.1488C>A	15.37:g.82512116G>T		102	0		130	49	NM_024580	0	0	13	20	7	A6NKY5|B7Z6I0|Q9H8Z6	Silent	SNP	ENST00000268206.7	37	CCDS42071.1																																																																																			.		0.428	EFTUD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419252.1	NM_024580	
ALPK3	57538	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	85401392	85401392	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:85401392G>A	ENST00000258888.5	+	6	4196	c.4029G>A	c.(4027-4029)gaG>gaA	p.E1343E		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1343					heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CCCAAGAGGAGAAGTTCCCAG	0.647																																					p.E1343E		.											.	ALPK3-337	0			c.G4029A						.						15.0	19.0	18.0					15																	85401392		2191	4297	6488	SO:0001819	synonymous_variant	57538	exon6			AGAGGAGAAGTTC	AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17574	protein-coding gene	gene with protein product	"""myocyte induction differentiation originator"", ""muscle alpha-kinase"""					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.4029G>A	15.37:g.85401392G>A		81	1		110	47	NM_020778	0	0	0	1	1	Q9P2L6	Silent	SNP	ENST00000258888.5	37	CCDS10333.1																																																																																			.		0.647	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778	
AGBL1	123624	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	86810268	86810268	+	Missense_Mutation	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:86810268T>C	ENST00000441037.2	+	12	1756	c.1661T>C	c.(1660-1662)tTt>tCt	p.F554S	AGBL1_ENST00000421325.2_Missense_Mutation_p.F554S|AGBL1_ENST00000389298.3_Missense_Mutation_p.F285S	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	554					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						TTCTCCAAATTTGAGTCAGGA	0.408																																					p.F554S		.											.	.	0			c.T1661C						.						89.0	81.0	83.0					15																	86810268		1910	4116	6026	SO:0001583	missense	123624	exon12			CCAAATTTGAGTC	AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 4"""	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.1661T>C	15.37:g.86810268T>C	ENSP00000413001:p.Phe554Ser	115	0		112	45	NM_152336	0	0	0	0	0	A1A4X5|A6NJH6|C9JHL5	Missense_Mutation	SNP	ENST00000441037.2	37	CCDS58398.1	.	.	.	.	.	.	.	.	.	.	T	19.34	3.808856	0.70797	.	.	ENSG00000166748	ENST00000441037;ENST00000421325;ENST00000389298	T;T	0.34275	1.37;1.37	5.32	5.32	0.75619	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73265	0.3565	H	0.97291	3.975	0.46396	D	0.999024	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.85130	0.997;0.996;0.996	D	0.83584	0.0119	10	0.87932	D	0	-15.5317	14.4553	0.67413	0.0:0.0:0.0:1.0	.	253;285;554	Q96MI9-2;Q96MI9-3;Q96MI9	.;.;CBPC4_HUMAN	S	583;554;285	ENSP00000397173:F554S;ENSP00000373949:F285S	ENSP00000373949:F285S	F	+	2	0	AGBL1	84611272	1.000000	0.71417	0.989000	0.46669	0.528000	0.34623	6.754000	0.74909	2.004000	0.58718	0.533000	0.62120	TTT	.		0.408	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336	
POLG	5428	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	89864046	89864046	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:89864046C>T	ENST00000268124.5	-	18	3265	c.2932G>A	c.(2932-2934)Gca>Aca	p.A978T	POLG_ENST00000442287.2_Missense_Mutation_p.A978T	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	978					aging (GO:0007568)|base-excision repair, gap-filling (GO:0006287)|cell death (GO:0008219)|DNA metabolic process (GO:0006259)|DNA-dependent DNA replication (GO:0006261)|mitochondrial DNA replication (GO:0006264)	extracellular vesicular exosome (GO:0070062)|gamma DNA polymerase complex (GO:0005760)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|exonuclease activity (GO:0004527)|protease binding (GO:0002020)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			TTCTCAGCTGCCTCCTGCTGT	0.587								DNA polymerases (catalytic subunits)																													p.A978T	Colon(73;648 1203 11348 18386 27782)	.											.	POLG-228	0			c.G2932A						.						59.0	52.0	54.0					15																	89864046		2200	4299	6499	SO:0001583	missense	5428	exon18			CAGCTGCCTCCTG	X98093	CCDS10350.1	15q24	2014-09-17			ENSG00000140521	ENSG00000140521		"""DNA polymerases"""	9179	protein-coding gene	gene with protein product		174763				9465903	Standard	NM_002693		Approved	POLG1, POLGA	uc002bnr.4	P54098	OTTHUMG00000149646	ENST00000268124.5:c.2932G>A	15.37:g.89864046C>T	ENSP00000268124:p.Ala978Thr	64	1		114	40	NM_002693	0	0	29	56	27	Q8NFM2|Q92515	Missense_Mutation	SNP	ENST00000268124.5	37	CCDS10350.1	.	.	.	.	.	.	.	.	.	.	C	35	5.499680	0.96355	.	.	ENSG00000140521	ENST00000268124;ENST00000442287	D;D	0.98105	-4.72;-4.72	5.24	5.24	0.73138	DNA-directed DNA polymerase, family A, palm domain (2);	0.000000	0.85682	D	0.000000	D	0.98018	0.9347	L	0.48260	1.515	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97784	1.0234	10	0.31617	T	0.26	-11.1086	18.8187	0.92088	0.0:1.0:0.0:0.0	.	978	P54098	DPOG1_HUMAN	T	978	ENSP00000268124:A978T;ENSP00000399851:A978T	ENSP00000268124:A978T	A	-	1	0	POLG	87665050	1.000000	0.71417	0.991000	0.47740	0.964000	0.63967	7.487000	0.81328	2.448000	0.82819	0.655000	0.94253	GCA	.		0.587	POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000312854.2	NM_002693	
AP3S2	10239	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	90378789	90378789	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:90378789G>A	ENST00000336418.4	-	6	932	c.540C>T	c.(538-540)ggC>ggT	p.G180G	AP3S2_ENST00000560771.1_5'Flank|AP3S2_ENST00000558011.1_Silent_p.G192G|C15orf38-AP3S2_ENST00000398333.3_Silent_p.G381G|AP3S2_ENST00000560940.1_Intron	NM_005829.4	NP_005820.1	P59780	AP3S2_HUMAN	adaptor-related protein complex 3, sigma 2 subunit	180					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)	protein transporter activity (GO:0008565)			NS(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(1)	6	Lung NSC(78;0.0181)|all_lung(78;0.0384)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.223)			TGTTGAGATCGCCAATGTTGA	0.483																																					p.G381G		.											.	.	0			c.C1143T						.						210.0	187.0	195.0					15																	90378789		2200	4299	6499	SO:0001819	synonymous_variant	100526783	exon10			GAGATCGCCAATG	X99459	CCDS10357.1	15q26.1	2010-08-13			ENSG00000157823	ENSG00000157823			571	protein-coding gene	gene with protein product		602416				9118953	Standard	NM_005829		Approved	sigma3b		P59780	OTTHUMG00000149811	ENST00000336418.4:c.540C>T	15.37:g.90378789G>A		90	0		106	46	NM_001199058	0	0	50	101	51	B2R677|B4DGQ3|O09077|O09149|Q53H83|Q99589	Silent	SNP	ENST00000336418.4	37	CCDS10357.1																																																																																			.		0.483	AP3S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313422.1		
RCCD1	91433	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	91504901	91504901	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:91504901C>T	ENST00000394258.2	+	8	1235	c.1033C>T	c.(1033-1035)Cgt>Tgt	p.R345C	RCCD1_ENST00000556618.1_Missense_Mutation_p.R345C|RCCD1_ENST00000555155.1_Missense_Mutation_p.R343C	NM_001017919.1|NM_033544.2	NP_001017919.1|NP_291022.2	A6NED2	RCCD1_HUMAN	RCC1 domain containing 1	345						cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|kidney(1)|large_intestine(2)	4	Lung NSC(78;0.0987)|all_lung(78;0.175)		Lung(145;0.189)			TCGGCCTCGCCGTGTGGAATA	0.527																																					p.R345C		.											.	RCCD1-90	0			c.C1033T						.						149.0	133.0	138.0					15																	91504901		2198	4298	6496	SO:0001583	missense	91433	exon8			CCTCGCCGTGTGG		CCDS32333.1	15q26.1	2005-10-21	2005-10-21			ENSG00000166965			30457	protein-coding gene	gene with protein product						12477932	Standard	XM_006720763		Approved	MGC14386	uc002bqk.3	A6NED2		ENST00000394258.2:c.1033C>T	15.37:g.91504901C>T	ENSP00000377801:p.Arg345Cys	201	0		316	146	NM_001017919	0	0	11	15	4	B2RTP9|Q29RX6	Missense_Mutation	SNP	ENST00000394258.2	37	CCDS32333.1	.	.	.	.	.	.	.	.	.	.	C	8.678	0.904410	0.17760	.	.	ENSG00000166965	ENST00000394258;ENST00000555155;ENST00000556618;ENST00000556333	D;D;D	0.86030	-2.06;-2.06;-2.06	5.3	2.32	0.28847	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.286767	0.33477	N	0.004871	T	0.77184	0.4093	L	0.49256	1.55	0.39193	D	0.962999	B;B	0.29886	0.219;0.26	B;B	0.24974	0.034;0.057	T	0.69924	-0.5013	10	0.48119	T	0.1	.	6.3515	0.21379	0.1288:0.6526:0.0:0.2186	.	343;345	G3V2I3;A6NED2	.;RCCD1_HUMAN	C	345;343;345;134	ENSP00000377801:R345C;ENSP00000450678:R343C;ENSP00000451963:R345C	ENSP00000377801:R345C	R	+	1	0	RCCD1	89305905	0.993000	0.37304	0.139000	0.22197	0.013000	0.08279	1.887000	0.39698	0.219000	0.20840	0.449000	0.29647	CGT	.		0.527	RCCD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414748.1	NM_033544	
MCTP2	55784	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	15	95013607	95013607	+	Missense_Mutation	SNP	G	G	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:95013607G>T	ENST00000357742.4	+	20	2406	c.2406G>T	c.(2404-2406)ttG>ttT	p.L802F	MCTP2_ENST00000451018.3_Missense_Mutation_p.L747F	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	802					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			TGGCCTGTTTGATTCTGGCAG	0.413																																					p.L802F		.											.	MCTP2-93	0			c.G2406T						.						194.0	186.0	189.0					15																	95013607		2197	4298	6495	SO:0001583	missense	55784	exon20			CTGTTTGATTCTG	AK002037	CCDS32338.1, CCDS53975.1, CCDS53976.1	15q26.2	2006-02-08				ENSG00000140563			25636	protein-coding gene	gene with protein product						15528213	Standard	NM_018349		Approved	FLJ11175, FLJ33303	uc002btj.3	Q6DN12		ENST00000357742.4:c.2406G>T	15.37:g.95013607G>T	ENSP00000350377:p.Leu802Phe	54	0		69	29	NM_018349	0	0	0	0	0	A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Missense_Mutation	SNP	ENST00000357742.4	37	CCDS32338.1	.	.	.	.	.	.	.	.	.	.	G	17.86	3.492435	0.64074	.	.	ENSG00000140563	ENST00000451018;ENST00000357742	T;T	0.67865	-0.29;-0.15	5.32	4.17	0.49024	Phosphoribosyltransferase C-terminal (1);	0.210963	0.41605	D	0.000856	T	0.71307	0.3324	L	0.61036	1.89	0.80722	D	1	D;D	0.61697	0.99;0.962	P;P	0.59012	0.83;0.85	T	0.72246	-0.4349	10	0.56958	D	0.05	.	5.7175	0.17968	0.1576:0.0:0.6655:0.1769	.	747;802	Q6DN12-2;Q6DN12	.;MCTP2_HUMAN	F	747;802	ENSP00000395109:L747F;ENSP00000350377:L802F	ENSP00000350377:L802F	L	+	3	2	MCTP2	92814611	1.000000	0.71417	0.893000	0.35052	0.981000	0.71138	1.302000	0.33459	2.645000	0.89757	0.650000	0.86243	TTG	.		0.413	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415060.3	NM_018349	
ARRDC4	91947	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	98511297	98511297	+	Silent	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:98511297T>C	ENST00000268042.6	+	4	740	c.576T>C	c.(574-576)tcT>tcC	p.S192S	ARRDC4_ENST00000538249.1_Silent_p.S105S	NM_183376.2	NP_899232.2	Q8NCT1	ARRD4_HUMAN	arrestin domain containing 4	192					positive regulation of ubiquitin-protein transferase activity (GO:0051443)	endosome (GO:0005768)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|skin(3)	16	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		OV - Ovarian serous cystadenocarcinoma(32;0.0417)			TTTTCACTTCTGGTCCAGTCT	0.353																																					p.S192S		.											.	ARRDC4-90	0			c.T576C						.						104.0	113.0	110.0					15																	98511297		2197	4298	6495	SO:0001819	synonymous_variant	91947	exon4			CACTTCTGGTCCA	BC028704	CCDS10377.1	15q26.2	2005-08-16			ENSG00000140450	ENSG00000140450			28087	protein-coding gene	gene with protein product						12477932	Standard	NM_183376		Approved	FLJ36045	uc010bom.3	Q8NCT1	OTTHUMG00000149849	ENST00000268042.6:c.576T>C	15.37:g.98511297T>C		37	0		50	15	NM_183376	0	0	3	5	2	Q6NSI9	Silent	SNP	ENST00000268042.6	37	CCDS10377.1																																																																																			.		0.353	ARRDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313535.1	NM_183376	
IGF1R	3480	broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	99250942	99250942	+	Silent	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:99250942C>T	ENST00000268035.6	+	2	857	c.246C>T	c.(244-246)acC>acT	p.T82T	IGF1R_ENST00000558762.1_Silent_p.T82T	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	82					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)			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)"""	CGGTCATTACCGAGTACTTGC	0.592																																					p.T82T		.											.	IGF1R-1490	0			c.C246T						.						110.0	78.0	89.0					15																	99250942		2197	4297	6494	SO:0001819	synonymous_variant	3480	exon2			CATTACCGAGTAC	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.246C>T	15.37:g.99250942C>T		256	2		360	150	NM_000875	0	0	14	23	9	B1B5Y2|Q14CV2|Q9UCC0	Silent	SNP	ENST00000268035.6	37	CCDS10378.1																																																																																			.		0.592	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875	
ADAMTS17	170691	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	100514681	100514681	+	Missense_Mutation	SNP	A	A	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:100514681A>T	ENST00000268070.4	-	22	3319	c.3214T>A	c.(3214-3216)Tgg>Agg	p.W1072R	CTD-3076O17.2_ENST00000559400.1_RNA|CTD-3076O17.1_ENST00000528696.3_RNA	NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	1072	PLAC. {ECO:0000255|PROSITE- ProRule:PRU00233}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		CGCTGGTACCACCGCATGTCC	0.572																																					p.W1072R		.											.	ADAMTS17-228	0			c.T3214A						.						102.0	86.0	91.0					15																	100514681		2203	4300	6503	SO:0001583	missense	170691	exon22			GGTACCACCGCAT	AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17109	protein-coding gene	gene with protein product		607511	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"""			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.3214T>A	15.37:g.100514681A>T	ENSP00000268070:p.Trp1072Arg	132	0		185	82	NM_139057	0	0	0	0	0	Q2I7G4|Q6ZN75	Missense_Mutation	SNP	ENST00000268070.4	37	CCDS10383.1	.	.	.	.	.	.	.	.	.	.	A	27.0	4.787267	0.90367	.	.	ENSG00000140470	ENST00000268070	T	0.44482	0.92	5.7	5.7	0.88788	PLAC (2);	0.000000	0.85682	D	0.000000	T	0.51109	0.1655	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.57516	-0.7798	10	0.87932	D	0	.	15.9595	0.79918	1.0:0.0:0.0:0.0	.	1072	Q8TE56	ATS17_HUMAN	R	1072	ENSP00000268070:W1072R	ENSP00000268070:W1072R	W	-	1	0	ADAMTS17	98332204	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.368000	0.90115	2.164000	0.68074	0.528000	0.53228	TGG	.		0.572	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313595.1	NM_139057	
ADAMTS17	170691	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	100533255	100533255	+	Missense_Mutation	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:100533255T>C	ENST00000268070.4	-	20	3052	c.2947A>G	c.(2947-2949)Acg>Gcg	p.T983A		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	983	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		GCTCTCACCGTAGACCAGTCC	0.617																																					p.T983A		.											.	ADAMTS17-228	0			c.A2947G						.						90.0	73.0	79.0					15																	100533255		2203	4300	6503	SO:0001583	missense	170691	exon20			TCACCGTAGACCA	AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17109	protein-coding gene	gene with protein product		607511	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"""			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.2947A>G	15.37:g.100533255T>C	ENSP00000268070:p.Thr983Ala	93	2		97	48	NM_139057	0	0	0	0	0	Q2I7G4|Q6ZN75	Missense_Mutation	SNP	ENST00000268070.4	37	CCDS10383.1	.	.	.	.	.	.	.	.	.	.	T	17.89	3.499552	0.64298	.	.	ENSG00000140470	ENST00000268070	T	0.49720	0.77	5.41	5.41	0.78517	.	0.062583	0.64402	D	0.000011	T	0.29190	0.0726	N	0.04275	-0.24	0.32595	N	0.526652	B	0.12013	0.005	B	0.18871	0.023	T	0.32561	-0.9902	10	0.46703	T	0.11	.	15.4408	0.75181	0.0:0.0:0.0:1.0	.	983	Q8TE56	ATS17_HUMAN	A	983	ENSP00000268070:T983A	ENSP00000268070:T983A	T	-	1	0	ADAMTS17	98350778	1.000000	0.71417	0.964000	0.40570	0.848000	0.48234	7.382000	0.79729	2.031000	0.59945	0.533000	0.62120	ACG	.		0.617	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313595.1	NM_139057	
TM2D3	80213	broad.mit.edu;bcgsc.ca;mdanderson.org	37	15	102192528	102192528	+	Missense_Mutation	SNP	C	C	T	rs149437101		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:102192528C>T	ENST00000333202.3	-	1	42	c.37G>A	c.(37-39)Gcc>Acc	p.A13T	TARSL2_ENST00000559492.1_5'Flank|TM2D3_ENST00000347970.3_Missense_Mutation_p.A13T|TM2D3_ENST00000559107.1_Missense_Mutation_p.A13T|TM2D3_ENST00000428002.2_Missense_Mutation_p.A13T|TM2D3_ENST00000561373.1_5'Flank	NM_078474.2	NP_510883.2	Q9BRN9	TM2D3_HUMAN	TM2 domain containing 3	13						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)	10	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CGACACAAGGCGCGGAGGCCC	0.716																																					p.A13T		.											.	TM2D3-91	0			c.G37A						.						24.0	26.0	26.0					15																	102192528		2189	4284	6473	SO:0001583	missense	80213	exon1			ACAAGGCGCGGAG	AK094955	CCDS10392.1, CCDS10393.1	15q26.3	2014-02-12			ENSG00000184277	ENSG00000184277			24128	protein-coding gene	gene with protein product		610014				11278849	Standard	XM_005254980		Approved	BLP2, FLJ22604	uc002bxi.3	Q9BRN9	OTTHUMG00000149872	ENST00000333202.3:c.37G>A	15.37:g.102192528C>T	ENSP00000330433:p.Ala13Thr	53	1		135	44	NM_025141	0	0	39	39	0	B2RDK9|Q9H046|Q9H651	Missense_Mutation	SNP	ENST00000333202.3	37	CCDS10393.1	.	.	.	.	.	.	.	.	.	.	C	3.417	-0.118869	0.06838	.	.	ENSG00000184277	ENST00000428002;ENST00000347970;ENST00000333202	.	.	.	4.57	-3.68	0.04463	.	1.434320	0.04046	N	0.303935	T	0.14056	0.0340	N	0.08118	0	0.09310	N	0.999991	B;B;B;B	0.24426	0.103;0.008;0.0;0.031	B;B;B;B	0.14578	0.011;0.001;0.002;0.006	T	0.09596	-1.0667	9	0.18276	T	0.48	-4.5247	1.1732	0.01829	0.3609:0.2813:0.2244:0.1335	.	13;13;13;13	B4DKG4;E7EPS7;Q9BRN9-2;Q9BRN9	.;.;.;TM2D3_HUMAN	T	13	.	ENSP00000330433:A13T	A	-	1	0	TM2D3	100010051	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.352000	0.07701	-0.308000	0.08792	-0.538000	0.04264	GCC	A|0.000;C|1.000		0.716	TM2D3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000313623.1	NM_078474	
OR4F15	390649	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	102358817	102358817	+	Missense_Mutation	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:102358817A>G	ENST00000332238.4	+	1	452	c.428A>G	c.(427-429)tAc>tGc	p.Y143C		NM_001001674.1	NP_001001674.1	Q8NGB8	O4F15_HUMAN	olfactory receptor, family 4, subfamily F, member 15	143						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)|kidney(2)|large_intestine(5)|lung(10)	19	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			ATGTGTCTATACTTTTTAGCC	0.418																																					p.Y143C		.											.	OR4F15-68	0			c.A428G						.						229.0	213.0	218.0					15																	102358817		2203	4300	6503	SO:0001583	missense	390649	exon1			GTCTATACTTTTT	BK004405	CCDS32342.1	15q26.3	2012-08-09				ENSG00000182854		"""GPCR / Class A : Olfactory receptors"""	15078	protein-coding gene	gene with protein product							Standard	NM_001001674		Approved		uc010uts.2	Q8NGB8		ENST00000332238.4:c.428A>G	15.37:g.102358817A>G	ENSP00000333184:p.Tyr143Cys	206	0		264	130	NM_001001674	0	0	0	0	0	B2RNQ5|Q6IF57|Q96R70	Missense_Mutation	SNP	ENST00000332238.4	37	CCDS32342.1	.	.	.	.	.	.	.	.	.	.	.	0.161	-1.081556	0.01888	.	.	ENSG00000182854	ENST00000332238	T	0.00084	8.75	5.57	-11.1	0.00147	GPCR, rhodopsin-like superfamily (1);	1.176380	0.06093	N	0.664011	T	0.00039	0.0001	N	0.02169	-0.655	0.09310	N	1	B	0.02656	0.0	B	0.10450	0.005	T	0.40831	-0.9542	9	.	.	.	.	3.8048	0.08773	0.0875:0.129:0.2527:0.5309	.	143	Q8NGB8	O4F15_HUMAN	C	143	ENSP00000333184:Y143C	.	Y	+	2	0	OR4F15	100176340	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.369000	0.00495	-3.601000	0.00134	-0.321000	0.08615	TAC	.		0.418	OR4F15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417594.1	NM_001001674	
CHTF18	63922	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	840346	840346	+	Splice_Site	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:840346G>A	ENST00000262315.9	+	6	762		c.e6-1		RPUSD1_ENST00000567114.1_5'Flank|CHTF18_ENST00000491530.1_Splice_Site|RPUSD1_ENST00000561734.1_5'Flank|RPUSD1_ENST00000565809.1_5'Flank|CHTF18_ENST00000317063.6_Splice_Site|RPUSD1_ENST00000007264.2_5'Flank|CHTF18_ENST00000455171.2_Splice_Site	NM_022092.2	NP_071375.1	Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)						cell cycle (GO:0007049)|DNA replication (GO:0006260)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11		Hepatocellular(780;0.00335)				TGTTTGCACAGCGGCGGGAGC	0.662																																					.		.											.	CHTF18-227	0			c.700-1G>A						.						20.0	24.0	23.0					16																	840346		1860	4084	5944	SO:0001630	splice_region_variant	63922	exon6			TGCACAGCGGCGG	BC018184	CCDS45371.1	16p13.3	2010-04-21	2003-12-09		ENSG00000127586	ENSG00000127586		"""ATPases / AAA-type"""	18435	protein-coding gene	gene with protein product		613201	"""chromosome 16 open reading frame 41"""	C16orf41		12171929	Standard	NM_022092		Approved	CHL12, C321D2.4, Ctf18	uc002cke.4	Q8WVB6	OTTHUMG00000047838	ENST00000262315.9:c.700-1G>A	16.37:g.840346G>A		44	0		76	30	NM_022092	0	0	0	2	2	B7ZBA2|D3DU68|Q7Z6Y4|Q7Z6Y6|Q9BR83|Q9BRG5|Q9H7K3	Splice_Site	SNP	ENST00000262315.9	37	CCDS45371.1	.	.	.	.	.	.	.	.	.	.	G	10.63	1.405396	0.25378	.	.	ENSG00000127586	ENST00000317063;ENST00000455171;ENST00000262315;ENST00000426047	.	.	.	4.83	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7688	0.78149	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CHTF18	780347	0.975000	0.34042	0.693000	0.30195	0.063000	0.16089	2.203000	0.42752	2.401000	0.81631	0.423000	0.28283	.	.		0.662	CHTF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109061.3	NM_022092	Intron
CRAMP1L	57585	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	1682360	1682360	+	Missense_Mutation	SNP	G	G	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:1682360G>C	ENST00000397412.3	+	4	787	c.688G>C	c.(688-690)Gat>Cat	p.D230H	LA16c-431H6.6_ENST00000454337.1_Nonstop_Mutation_p.*34S|CRAMP1L_ENST00000436138.3_Missense_Mutation_p.D227H|CRAMP1L_ENST00000293925.5_Missense_Mutation_p.D230H			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	230						nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						CATCGACTTTGATCATGGTGA	0.597																																					p.D230H		.											.	.	0			c.G688C						.						38.0	41.0	40.0					16																	1682360		2092	4203	6295	SO:0001583	missense	57585	exon3			GACTTTGATCATG	AB037847	CCDS10440.2	16p13.3	2008-07-30	2001-11-28		ENSG00000007545	ENSG00000007545			14122	protein-coding gene	gene with protein product			"""Crm (Cramped Drosophila)-like"""				Standard	NM_020825		Approved	KIAA1426	uc010uvh.2	Q96RY5	OTTHUMG00000074087	ENST00000397412.3:c.688G>C	16.37:g.1682360G>C	ENSP00000380559:p.Asp230His	71	0		123	53	NM_020825	0	0	0	0	0	A8MZL1|B1AJY1|Q8NDN1|Q9P2C1	Missense_Mutation	SNP	ENST00000397412.3	37	CCDS10440.2	.	.	.	.	.	.	.	.	.	.	G	15.72	2.915875	0.52546	.	.	ENSG00000007545	ENST00000397412;ENST00000293925;ENST00000436138	T;T;T	0.79653	-1.29;-1.29;-1.29	5.24	4.27	0.50696	.	0.280522	0.33610	N	0.004736	T	0.72220	0.3433	N	0.08118	0	0.80722	D	1	D	0.53151	0.958	P	0.53313	0.723	T	0.76594	-0.2902	10	0.72032	D	0.01	-20.2505	10.641	0.45592	0.15:0.0:0.85:0.0	.	230	Q96RY5	CRML_HUMAN	H	230;230;227	ENSP00000380559:D230H;ENSP00000293925:D230H;ENSP00000413634:D227H	ENSP00000293925:D230H	D	+	1	0	CRAMP1L	1622361	1.000000	0.71417	0.443000	0.26883	0.644000	0.38419	4.443000	0.59994	1.309000	0.44985	0.563000	0.77884	GAT	.		0.597	CRAMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157297.4		
MAPK8IP3	23162	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	1793368	1793368	+	Missense_Mutation	SNP	C	C	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:1793368C>A	ENST00000250894.4	+	5	792	c.635C>A	c.(634-636)cCc>cAc	p.P212H	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.P212H	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	212					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						AACGTGTTCCCCCTGGCTGAC	0.652																																					p.P212H		.											.	MAPK8IP3-1109	0			c.C635A						.						44.0	47.0	46.0					16																	1793368		2040	4162	6202	SO:0001583	missense	23162	exon5			TGTTCCCCCTGGC	AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"""homolog of Drosophila Sunday driver 2"""	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.635C>A	16.37:g.1793368C>A	ENSP00000250894:p.Pro212His	56	1		76	21	NM_015133	0	0	10	12	2	A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Missense_Mutation	SNP	ENST00000250894.4	37	CCDS10442.2	.	.	.	.	.	.	.	.	.	.	C	17.66	3.443881	0.63067	.	.	ENSG00000138834	ENST00000250894;ENST00000356010	T;T	0.33216	1.42;1.42	5.16	5.16	0.70880	.	0.059251	0.64402	D	0.000002	T	0.51991	0.1707	M	0.66939	2.045	0.80722	D	1	D;D;D;D	0.67145	0.996;0.996;0.996;0.99	P;P;P;P	0.61940	0.896;0.885;0.885;0.799	T	0.48559	-0.9025	10	0.38643	T	0.18	-34.2402	18.2866	0.90115	0.0:1.0:0.0:0.0	.	213;212;212;212	B7ZMF3;E9PFH7;Q9UPT6;Q9UPT6-2	.;.;JIP3_HUMAN;.	H	212	ENSP00000250894:P212H;ENSP00000348290:P212H	ENSP00000250894:P212H	P	+	2	0	MAPK8IP3	1733369	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	7.663000	0.83820	2.408000	0.81797	0.643000	0.83706	CCC	.		0.652	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250508.2	NM_001040439	
MAPK8IP3	23162	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	1814309	1814309	+	Missense_Mutation	SNP	G	G	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:1814309G>T	ENST00000250894.4	+	19	2283	c.2126G>T	c.(2125-2127)tGt>tTt	p.C709F	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.C703F	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	709					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						CAGCTGTGGTGTGCCGCGGGC	0.716																																					p.C709F		.											.	MAPK8IP3-1109	0			c.G2126T						.						15.0	21.0	19.0					16																	1814309		2004	4140	6144	SO:0001583	missense	23162	exon19			TGTGGTGTGCCGC	AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"""homolog of Drosophila Sunday driver 2"""	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.2126G>T	16.37:g.1814309G>T	ENSP00000250894:p.Cys709Phe	38	0		194	83	NM_015133	0	0	0	0	0	A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Missense_Mutation	SNP	ENST00000250894.4	37	CCDS10442.2	.	.	.	.	.	.	.	.	.	.	G	19.34	3.809685	0.70797	.	.	ENSG00000138834	ENST00000250894;ENST00000356010	D;D	0.82893	-1.66;-1.63	4.8	4.8	0.61643	.	0.099846	0.64402	D	0.000001	D	0.91690	0.7373	M	0.83483	2.645	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.91635	0.999;0.999;0.994	D	0.93135	0.6536	10	0.87932	D	0	-10.8027	17.4613	0.87620	0.0:0.0:1.0:0.0	.	710;703;709	B7ZMF3;E9PFH7;Q9UPT6	.;.;JIP3_HUMAN	F	709;703	ENSP00000250894:C709F;ENSP00000348290:C703F	ENSP00000250894:C709F	C	+	2	0	MAPK8IP3	1754310	1.000000	0.71417	1.000000	0.80357	0.488000	0.33401	7.717000	0.84732	2.224000	0.72417	0.591000	0.81541	TGT	.		0.716	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250508.2	NM_001040439	
EME2	197342	hgsc.bcm.edu	37	16	1823444	1823444	+	Silent	SNP	C	C	G	rs761065	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:1823444C>G	ENST00000568449.1	+	1	237	c.216C>G	c.(214-216)gtC>gtG	p.V72V	EME2_ENST00000307394.7_Silent_p.V72V|MRPS34_ENST00000177742.3_5'Flank|NME3_ENST00000563498.1_5'Flank|NME3_ENST00000219302.3_5'Flank|MRPS34_ENST00000397375.2_5'Flank	NM_001257370.1	NP_001244299.1	A4GXA9	EME2_HUMAN	essential meiotic structure-specific endonuclease subunit 2	72					DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)			central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						CGGAGCAGGTCCTGAAGCGCC	0.746								Direct reversal of damage;Homologous recombination					C|||	1683	0.336062	0.0915	0.4885	5008	,	,		9781	0.2808		0.5666	False		,,,				2504	0.3783				p.V72V		.											.	EME2-229	0			c.C216G						.	C		457,2833		68,321,1256	4.0	5.0	5.0		216	-5.9	0.0	16	dbSNP_86	5	3986,3362		1200,1586,888	no	coding-synonymous	EME2	NM_001010865.1		1268,1907,2144	GG,GC,CC		45.7539,13.8906,41.7654		72/445	1823444	4443,6195	1645	3674	5319	SO:0001819	synonymous_variant	197342	exon1			GCAGGTCCTGAAG	AK074080	CCDS58404.1	16p13.3	2013-07-03	2013-07-03			ENSG00000197774			27289	protein-coding gene	gene with protein product	"""SLX2 structure-specific endonuclease subunit homolog B (S. cerevisiae)"""	610886	"""essential meiotic endonuclease 1 homolog 2 (S. pombe)"""			12721304	Standard	NM_001257370		Approved	FLJ00151, SLX2B	uc010brw.1	A4GXA9		ENST00000568449.1:c.216C>G	16.37:g.1823444C>G		0	0		10	4	NM_001257370	0	0	0	0	0	Q8TEP2|Q96RY3	Silent	SNP	ENST00000568449.1	37	CCDS58404.1																																																																																			C|0.615;G|0.385		0.746	EME2-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433185.2	NM_001010865	
RPS2	6187	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	2013252	2013252	+	Silent	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:2013252T>C	ENST00000343262.4	-	4	329	c.273A>G	c.(271-273)tcA>tcG	p.S91S	SNHG9_ENST00000459373.1_lincRNA|RPS2_ENST00000529806.1_Silent_p.S61S|SNORA64_ENST00000384674.1_RNA|RPS2_ENST00000526522.1_Silent_p.S91S|SNORA10_ENST00000384084.1_RNA|RPS2_ENST00000530225.1_Silent_p.S91S	NM_002952.3	NP_002943.2	P15880	RS2_HUMAN	ribosomal protein S2	91					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 transferase activity (GO:0051347)|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)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						CAATGATCTCTGATTCCTGAA	0.468																																					p.S91S		.											.	RPS2-90	0			c.A273G						.						8.0	8.0	8.0					16																	2013252		2172	4258	6430	SO:0001819	synonymous_variant	6187	exon4			GATCTCTGATTCC	AB007147	CCDS10452.1	16p13.3	2011-04-05			ENSG00000140988	ENSG00000140988		"""S ribosomal proteins"""	10404	protein-coding gene	gene with protein product		603624				9582194	Standard	NM_002952		Approved	LLREP3, S2	uc002cno.2	P15880	OTTHUMG00000128708	ENST00000343262.4:c.273A>G	16.37:g.2013252T>C		135	0		147	56	NM_002952	0	0	8	10	2	B2R5G0|D3DU82|Q3MIB1	Silent	SNP	ENST00000343262.4	37	CCDS10452.1																																																																																			.		0.468	RPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250613.2	NM_002952	
ZNF598	90850	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	2052607	2052607	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:2052607C>T	ENST00000563630.1	-	4	669	c.427G>A	c.(427-429)Gac>Aac	p.D143N	ZNF598_ENST00000431526.1_Missense_Mutation_p.D198N|ZNF598_ENST00000562103.1_Missense_Mutation_p.D143N			Q86UK7	ZN598_HUMAN	zinc finger protein 598	198							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						TCATCATTGTCCAGGTAGCGC	0.647																																					p.D198N		.											.	ZNF598-432	0			c.G592A						.						65.0	72.0	70.0					16																	2052607		2170	4269	6439	SO:0001583	missense	90850	exon6			CATTGTCCAGGTA	BC029270		16p13.3	2008-05-02				ENSG00000167962		"""Zinc fingers, C2H2-type"""	28079	protein-coding gene	gene with protein product							Standard	NM_178167		Approved	FLJ00086	uc002cof.2	Q86UK7		ENST00000563630.1:c.427G>A	16.37:g.2052607C>T	ENSP00000455882:p.Asp143Asn	154	0		205	73	NM_178167	0	0	6	17	11	Q8IW49|Q8N3D9|Q96FG3|Q9H7J3	Missense_Mutation	SNP	ENST00000563630.1	37		.	.	.	.	.	.	.	.	.	.	.	26.1	4.700394	0.88924	.	.	ENSG00000167962	ENST00000431526	T	0.30448	1.53	4.98	4.98	0.66077	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.099907	0.64402	D	0.000003	T	0.56108	0.1963	M	0.71036	2.16	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.59134	-0.7511	10	0.56958	D	0.05	-31.5528	17.216	0.86944	0.0:1.0:0.0:0.0	.	198	Q86UK7	ZN598_HUMAN	N	198	ENSP00000411409:D198N	ENSP00000411409:D198N	D	-	1	0	ZNF598	1992608	1.000000	0.71417	1.000000	0.80357	0.498000	0.33706	7.381000	0.79718	2.310000	0.77875	0.561000	0.74099	GAC	.		0.647	ZNF598-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000434439.1	NM_178167	
ZNF598	90850	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	2053060	2053060	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:2053060C>T	ENST00000563630.1	-	3	474	c.232G>A	c.(232-234)Gac>Aac	p.D78N	ZNF598_ENST00000431526.1_Missense_Mutation_p.D133N|ZNF598_ENST00000562103.1_Missense_Mutation_p.D78N			Q86UK7	ZN598_HUMAN	zinc finger protein 598	133							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						TGCTCCAGGTCCCCGAAGAGG	0.682																																					p.D133N		.											.	ZNF598-432	0			c.G397A						.						10.0	14.0	13.0					16																	2053060		2015	4155	6170	SO:0001583	missense	90850	exon5			CCAGGTCCCCGAA	BC029270		16p13.3	2008-05-02				ENSG00000167962		"""Zinc fingers, C2H2-type"""	28079	protein-coding gene	gene with protein product							Standard	NM_178167		Approved	FLJ00086	uc002cof.2	Q86UK7		ENST00000563630.1:c.232G>A	16.37:g.2053060C>T	ENSP00000455882:p.Asp78Asn	80	0		161	52	NM_178167	1	0	31	48	16	Q8IW49|Q8N3D9|Q96FG3|Q9H7J3	Missense_Mutation	SNP	ENST00000563630.1	37		.	.	.	.	.	.	.	.	.	.	.	24.0	4.477154	0.84640	.	.	ENSG00000167962	ENST00000431526	T	0.25579	1.79	4.73	4.73	0.59995	Zinc finger, C2H2-like (1);	0.050782	0.85682	D	0.000000	T	0.37839	0.1018	L	0.28344	0.845	0.58432	D	0.999998	D	0.76494	0.999	D	0.69142	0.962	T	0.25813	-1.0121	10	0.54805	T	0.06	-34.0688	16.7112	0.85386	0.0:1.0:0.0:0.0	.	133	Q86UK7	ZN598_HUMAN	N	133	ENSP00000411409:D133N	ENSP00000411409:D133N	D	-	1	0	ZNF598	1993061	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.272000	0.78516	2.184000	0.69523	0.655000	0.94253	GAC	.		0.682	ZNF598-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000434439.1	NM_178167	
ABCA3	21	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	2374440	2374440	+	Missense_Mutation	SNP	G	G	T	rs369686350		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:2374440G>T	ENST00000301732.5	-	6	1112	c.412C>A	c.(412-414)Ccc>Acc	p.P138T	ABCA3_ENST00000382381.3_Missense_Mutation_p.P138T|ABCA3_ENST00000567910.1_Missense_Mutation_p.P138T	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	138					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	TGGTTGAAGGGGTGCTCGAAG	0.647													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16487	0.0		0.0	False		,,,				2504	0.0				p.P138T		.											.	ABCA3-1015	0			c.C412A						.						33.0	28.0	30.0					16																	2374440		2198	4300	6498	SO:0001583	missense	21	exon6			TGAAGGGGTGCTC	U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"""ATP binding cassette transporters / subfamily A"""	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.412C>A	16.37:g.2374440G>T	ENSP00000301732:p.Pro138Thr	42	0		71	34	NM_001089	0	0	14	31	17	B2RU09|Q54A95|Q6P5P9|Q92473	Missense_Mutation	SNP	ENST00000301732.5	37	CCDS10466.1	.	.	.	.	.	.	.	.	.	.	G	7.691	0.691113	0.15039	.	.	ENSG00000167972	ENST00000301732;ENST00000382381	D	0.89617	-2.54	5.42	-5.12	0.02893	.	1.359120	0.04515	N	0.383481	T	0.68742	0.3034	N	0.03608	-0.345	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.0;0.002;0.0;0.0	T	0.60974	-0.7156	10	0.13470	T	0.59	.	3.1029	0.06331	0.0974:0.3758:0.2088:0.318	.	138;200;138;138	A7MBM9;Q4LE27;Q6P5P9;Q99758	.;.;.;ABCA3_HUMAN	T	138;200	ENSP00000301732:P138T	ENSP00000301732:P138T	P	-	1	0	ABCA3	2314441	0.000000	0.05858	0.003000	0.11579	0.932000	0.56968	-1.466000	0.02355	-0.920000	0.03799	-0.262000	0.10625	CCC	.		0.647	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089	
CCNF	899	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	2487128	2487128	+	Splice_Site	SNP	A	A	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:2487128A>T	ENST00000397066.4	+	5	434		c.e5-1			NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F						mitotic nuclear division (GO:0007067)|negative regulation of centrosome duplication (GO:0010826)|placenta development (GO:0001890)|protein ubiquitination (GO:0016567)|re-entry into mitotic cell cycle (GO:0000320)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	centriole (GO:0005814)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				CTGTCCCCGCAGTGTCTGTGT	0.572																																					.		.											.	CCNF-658	0			c.347-2A>T						.						114.0	119.0	117.0					16																	2487128		2198	4300	6498	SO:0001630	splice_region_variant	899	exon5			CCCCGCAGTGTCT	Z36714	CCDS10467.1	16p13.3	2008-02-05			ENSG00000162063	ENSG00000162063		"""F-boxes /  ""other"""""	1591	protein-coding gene	gene with protein product		600227				7896286	Standard	NM_001761		Approved	FBX1, FBXO1	uc002cqd.1	P41002	OTTHUMG00000128858	ENST00000397066.4:c.347-1A>T	16.37:g.2487128A>T		46	0		65	26	NM_001761	0	0	0	9	9	B2R8H3|Q96EG9	Splice_Site	SNP	ENST00000397066.4	37	CCDS10467.1	.	.	.	.	.	.	.	.	.	.	A	16.56	3.156629	0.57259	.	.	ENSG00000162063	ENST00000397066;ENST00000293968	.	.	.	5.92	5.92	0.95590	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1998	0.73126	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCNF	2427129	1.000000	0.71417	0.998000	0.56505	0.600000	0.36913	8.775000	0.91772	2.263000	0.75096	0.533000	0.62120	.	.		0.572	CCNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250801.1	NM_001761	Intron
CCNF	899	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	2487231	2487231	+	Missense_Mutation	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:2487231T>C	ENST00000397066.4	+	5	536	c.448T>C	c.(448-450)Tgg>Cgg	p.W150R		NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	150					mitotic nuclear division (GO:0007067)|negative regulation of centrosome duplication (GO:0010826)|placenta development (GO:0001890)|protein ubiquitination (GO:0016567)|re-entry into mitotic cell cycle (GO:0000320)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	centriole (GO:0005814)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				ACCTTTCATCTGGCTCTTCAT	0.617																																					p.W150R		.											.	CCNF-658	0			c.T448C						.						67.0	61.0	63.0					16																	2487231		2198	4300	6498	SO:0001583	missense	899	exon5			TTCATCTGGCTCT	Z36714	CCDS10467.1	16p13.3	2008-02-05			ENSG00000162063	ENSG00000162063		"""F-boxes /  ""other"""""	1591	protein-coding gene	gene with protein product		600227				7896286	Standard	NM_001761		Approved	FBX1, FBXO1	uc002cqd.1	P41002	OTTHUMG00000128858	ENST00000397066.4:c.448T>C	16.37:g.2487231T>C	ENSP00000380256:p.Trp150Arg	60	0		73	30	NM_001761	0	0	1	5	4	B2R8H3|Q96EG9	Missense_Mutation	SNP	ENST00000397066.4	37	CCDS10467.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.353605	0.82243	.	.	ENSG00000162063	ENST00000397066;ENST00000293968	T	0.64991	-0.13	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.79435	0.4445	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82228	-0.0561	10	0.87932	D	0	-21.5037	14.7718	0.69684	0.0:0.0:0.0:1.0	.	150	P41002	CCNF_HUMAN	R	150;65	ENSP00000380256:W150R	ENSP00000293968:W65R	W	+	1	0	CCNF	2427232	1.000000	0.71417	1.000000	0.80357	0.705000	0.40729	7.818000	0.86416	2.172000	0.68678	0.533000	0.62120	TGG	.		0.617	CCNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250801.1	NM_001761	
ATP6V0C	527	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	16	2564109	2564109	+	Missense_Mutation	SNP	C	C	G	rs147497038		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:2564109C>G	ENST00000330398.4	+	1	239	c.5C>G	c.(4-6)tCc>tGc	p.S2C	ATP6V0C_ENST00000565223.1_5'Flank|RP11-20I23.1_ENST00000564543.1_Intron|ATP6V0C_ENST00000568562.1_Missense_Mutation_p.S2C|ATP6C_ENST00000569317.1_Missense_Mutation_p.S2C	NM_001198569.1|NM_001694.3	NP_001185498.1|NP_001685.1	P27449	VATL_HUMAN	ATPase, H+ transporting, lysosomal 16kDa, V0 subunit c	2					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of Wnt signaling pathway (GO:0030177)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)	proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|ubiquitin protein ligase binding (GO:0031625)			endometrium(1)|lung(1)|ovary(1)	3		Ovarian(90;0.17)				GCAGACATGTCCGAGTCCAAG	0.736																																					p.S2C		.											.	ATP6V0C-91	0			c.C5G						.						17.0	17.0	17.0					16																	2564109		2187	4293	6480	SO:0001583	missense	527	exon2			ACATGTCCGAGTC	M62762	CCDS10470.1	16p13.3	2010-04-21	2002-08-29	2002-05-10	ENSG00000185883	ENSG00000185883	3.6.3.14	"""ATPases / V-type"""	855	protein-coding gene	gene with protein product		108745	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) 16kD"""	ATPL, ATP6C, ATP6L		1709739, 8250920	Standard	NM_001694		Approved	VATL, Vma3	uc021tav.1	P27449	OTTHUMG00000128865	ENST00000330398.4:c.5C>G	16.37:g.2564109C>G	ENSP00000329757:p.Ser2Cys	38	0		78	44	NM_001198569	0	0	187	349	162	Q6FH26	Missense_Mutation	SNP	ENST00000330398.4	37	CCDS10470.1	.	.	.	.	.	.	.	.	.	.	C	12.40	1.927847	0.34002	.	.	ENSG00000185883	ENST00000330398	.	.	.	3.66	3.66	0.41972	.	0.569105	0.17084	U	0.187667	T	0.52597	0.1744	L	0.42245	1.32	0.80722	D	1	B	0.33448	0.412	B	0.36959	0.237	T	0.60105	-0.7328	9	0.87932	D	0	-10.3754	12.9649	0.58478	0.0:1.0:0.0:0.0	.	2	P27449	VATL_HUMAN	C	2	.	ENSP00000329757:S2C	S	+	2	0	ATP6V0C	2504110	1.000000	0.71417	0.994000	0.49952	0.122000	0.20287	3.981000	0.56902	1.892000	0.54788	0.543000	0.68304	TCC	C|1.000;T|0.000		0.736	ATP6V0C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250810.1	NM_001694	
CEMP1	752014	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	2580891	2580891	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:2580891C>T	ENST00000567119.1	-	1	518	c.184G>A	c.(184-186)Gca>Aca	p.A62T	MIR3178_ENST00000581887.1_RNA|AMDHD2_ENST00000302956.4_3'UTR|AMDHD2_ENST00000565570.1_3'UTR|CEMP1_ENST00000382350.1_Missense_Mutation_p.A62T|CEMP1_ENST00000565480.1_Intron|AMDHD2_ENST00000413459.3_3'UTR	NM_001048212.3	NP_001041677.1	Q6PRD7	CEMP1_HUMAN	cementum protein 1	62						cytoplasm (GO:0005737)				lung(1)|skin(1)	2						CCCACCTCTGCCTTGACGGCC	0.662																																					p.A62T		.											.	CEMP1-23	0			c.G184A						.						42.0	50.0	48.0					16																	2580891		2041	4179	6220	SO:0001583	missense	752014	exon1			CCTCTGCCTTGAC	AY584596	CCDS42108.1	16p13.3	2006-09-22							32553	protein-coding gene	gene with protein product	"""cementum protein-23"""	611113				16263347	Standard	NM_001048212		Approved	CP-23	uc002cqr.3	Q6PRD7		ENST00000567119.1:c.184G>A	16.37:g.2580891C>T	ENSP00000457380:p.Ala62Thr	108	0		109	49	NM_001048212	0	0	4	5	1	B2RUY1	Missense_Mutation	SNP	ENST00000567119.1	37	CCDS42108.1	.	.	.	.	.	.	.	.	.	.	C	6.807	0.517995	0.13005	.	.	ENSG00000205923	ENST00000382350	T	0.55052	0.54	1.7	-0.56	0.11789	.	.	.	.	.	T	0.26738	0.0654	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.10450	0.005	T	0.19289	-1.0310	9	0.87932	D	0	.	2.2847	0.04124	0.2967:0.5072:0.0:0.196	.	62	Q6PRD7	CEMP1_HUMAN	T	62	ENSP00000371787:A62T	ENSP00000371787:A62T	A	-	1	0	CEMP1	2520892	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.185000	0.09684	-0.118000	0.11851	-0.314000	0.08810	GCA	.		0.662	CEMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435686.1	NM_001048212	
SRRM2	23524	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	2816678	2816678	+	Missense_Mutation	SNP	T	T	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:2816678T>A	ENST00000301740.8	+	11	6698	c.6149T>A	c.(6148-6150)aTc>aAc	p.I2050N		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2050	Arg-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CCACTTGCTATCCGCCGCCGC	0.587																																					p.I2050N		.											.	SRRM2-93	0			c.T6149A						.						71.0	56.0	61.0					16																	2816678		2198	4300	6498	SO:0001583	missense	23524	exon11			TTGCTATCCGCCG	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.6149T>A	16.37:g.2816678T>A	ENSP00000301740:p.Ile2050Asn	183	0		233	98	NM_016333	1	0	100	210	109	A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	T	8.531	0.870940	0.17322	.	.	ENSG00000167978	ENST00000301740;ENST00000544933	T	0.29655	1.56	5.47	5.47	0.80525	.	0.202113	0.35466	N	0.003181	T	0.14787	0.0357	N	0.08118	0	0.31544	N	0.659535	P	0.44090	0.826	B	0.41088	0.347	T	0.06716	-1.0811	10	0.16896	T	0.51	-1.4596	8.1227	0.30980	0.0:0.0896:0.0:0.9104	.	2050	Q9UQ35	SRRM2_HUMAN	N	2050;1302	ENSP00000301740:I2050N	ENSP00000301740:I2050N	I	+	2	0	SRRM2	2756679	0.993000	0.37304	0.998000	0.56505	0.989000	0.77384	2.428000	0.44749	2.083000	0.62718	0.533000	0.62120	ATC	.		0.587	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1		
CLDN9	9080	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	3063682	3063682	+	Missense_Mutation	SNP	T	T	C	rs199692917		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:3063682T>C	ENST00000445369.2	+	1	1226	c.319T>C	c.(319-321)Tgt>Cgt	p.C107R		NM_020982.3	NP_066192.1	O95484	CLD9_HUMAN	claudin 9	107					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(2)|large_intestine(1)|lung(5)|prostate(2)	10						GTGTACCACGTGTGTGGAGGA	0.672																																					p.C107R		.											.	CLDN9-90	0			c.T319C						.						103.0	95.0	98.0					16																	3063682		2198	4300	6498	SO:0001583	missense	9080	exon1			ACCACGTGTGTGG	AJ130941	CCDS10487.1	16p13.3	2008-08-01			ENSG00000213937	ENSG00000213937		"""Claudins"""	2051	protein-coding gene	gene with protein product		615799				9441748, 18234789	Standard	NM_020982		Approved		uc010uwo.1	O95484	OTTHUMG00000129000	ENST00000445369.2:c.319T>C	16.37:g.3063682T>C	ENSP00000398017:p.Cys107Arg	206	0		238	75	NM_020982	0	0	0	0	0		Missense_Mutation	SNP	ENST00000445369.2	37	CCDS10487.1	.	.	.	.	.	.	.	.	.	.	T	17.63	3.438101	0.62955	.	.	ENSG00000213937	ENST00000445369	D	0.88124	-2.34	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	D	0.95664	0.8590	H	0.97829	4.085	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	D	0.96662	0.9490	10	0.87932	D	0	.	12.1931	0.54282	0.0:0.0:0.0:1.0	.	107	O95484	CLD9_HUMAN	R	107	ENSP00000398017:C107R	ENSP00000398017:C107R	C	+	1	0	CLDN9	3003683	1.000000	0.71417	0.915000	0.36163	0.447000	0.32167	7.864000	0.87037	1.962000	0.57031	0.383000	0.25322	TGT	T|0.999;C|0.001		0.672	CLDN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250989.1	NM_020982	
CLDN9	9080	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	3063792	3063792	+	Silent	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:3063792C>T	ENST00000445369.2	+	1	1336	c.429C>T	c.(427-429)atC>atT	p.I143I		NM_020982.3	NP_066192.1	O95484	CLD9_HUMAN	claudin 9	143					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(2)|large_intestine(1)|lung(5)|prostate(2)	10						CGCACGCCATCATCCAGGACT	0.672																																					p.I143I		.											.	CLDN9-90	0			c.C429T						.						55.0	55.0	55.0					16																	3063792		2198	4299	6497	SO:0001819	synonymous_variant	9080	exon1			CGCCATCATCCAG	AJ130941	CCDS10487.1	16p13.3	2008-08-01			ENSG00000213937	ENSG00000213937		"""Claudins"""	2051	protein-coding gene	gene with protein product		615799				9441748, 18234789	Standard	NM_020982		Approved		uc010uwo.1	O95484	OTTHUMG00000129000	ENST00000445369.2:c.429C>T	16.37:g.3063792C>T		162	0		179	66	NM_020982	0	0	0	0	0		Silent	SNP	ENST00000445369.2	37	CCDS10487.1																																																																																			.		0.672	CLDN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250989.1	NM_020982	
C16orf90	646174	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	3545393	3545393	+	Missense_Mutation	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:3545393T>C	ENST00000437192.3	-	1	31	c.29A>G	c.(28-30)gAg>gGg	p.E10G	LA16c-306E5.3_ENST00000574423.2_RNA	NM_001080524.1	NP_001073993.1	A8MZG2	CP090_HUMAN	chromosome 16 open reading frame 90	7										large_intestine(1)	1						TATGTGCAGCTCAGAAAATGC	0.632																																					p.E10G		.											.	.	0			c.A29G						.						36.0	36.0	36.0					16																	3545393		1934	4157	6091	SO:0001583	missense	646174	exon1			TGCAGCTCAGAAA		CCDS45397.1	16p13.3	2009-01-29			ENSG00000215131	ENSG00000215131			34455	protein-coding gene	gene with protein product							Standard	NM_001080524		Approved	LOC646174	uc002cvi.3	A8MZG2	OTTHUMG00000154627	ENST00000437192.3:c.29A>G	16.37:g.3545393T>C	ENSP00000401335:p.Glu10Gly	71	0		92	34	NM_001080524	0	0	0	0	0		Missense_Mutation	SNP	ENST00000437192.3	37	CCDS45397.1	.	.	.	.	.	.	.	.	.	.	T	16.22	3.060762	0.55432	.	.	ENSG00000215131	ENST00000437192	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	T	0.51991	0.1707	.	.	.	0.26708	N	0.971033	P	0.51351	0.944	P	0.52957	0.714	T	0.50541	-0.8816	7	0.72032	D	0.01	.	11.7185	0.51668	0.0:0.0:0.0:1.0	.	10	A8MZG2-2	.	G	10	.	ENSP00000401335:E10G	E	-	2	0	C16orf90	3485394	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.207000	0.42788	2.027000	0.59764	0.460000	0.39030	GAG	.		0.632	C16orf90-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346319.2	NM_001080524	
VASN	114990	bcgsc.ca;mdanderson.org	37	16	4431929	4431929	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:4431929G>A	ENST00000304735.3	+	2	1206	c.1051G>A	c.(1051-1053)Gcc>Acc	p.A351T	CORO7_ENST00000423908.2_Intron|CORO7_ENST00000251166.4_Intron|CORO7_ENST00000537233.2_Intron|CORO7_ENST00000539968.1_Intron|CORO7-PAM16_ENST00000572467.1_Intron|CORO7_ENST00000574025.1_Intron	NM_138440.2	NP_612449.2	Q6EMK4	VASN_HUMAN	vasorin	351	LRRCT.				cellular response to hypoxia (GO:0071456)|cellular response to redox state (GO:0071461)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	transforming growth factor beta binding (GO:0050431)			breast(1)|lung(3)|prostate(1)|skin(1)	6						TGGCTGCCCAGCCACCACCAC	0.662																																					p.A351T		.											.	VASN-68	0			c.G1051A						.						18.0	18.0	18.0					16																	4431929		2176	4278	6454	SO:0001583	missense	114990	exon2			TGCCCAGCCACCA	AY358299	CCDS10514.1	16p13.3	2008-02-05	2006-03-30	2006-03-30	ENSG00000168140	ENSG00000168140			18517	protein-coding gene	gene with protein product		608843	"""slit-like 2 (Drosophila)"""	SLITL2		15247411	Standard	NM_138440		Approved		uc002cwj.1	Q6EMK4	OTTHUMG00000129469	ENST00000304735.3:c.1051G>A	16.37:g.4431929G>A	ENSP00000306864:p.Ala351Thr	48	2		112	48	NM_138440	0	0	7	7	0	Q6UXL4|Q6UXL5|Q96CX1	Missense_Mutation	SNP	ENST00000304735.3	37	CCDS10514.1	.	.	.	.	.	.	.	.	.	.	G	10.38	1.335432	0.24253	.	.	ENSG00000168140	ENST00000304735	T	0.53423	0.62	5.5	5.5	0.81552	.	0.475924	0.22633	N	0.057560	T	0.24699	0.0599	N	0.04508	-0.205	0.26734	N	0.970522	P	0.36282	0.546	B	0.30401	0.115	T	0.08411	-1.0723	10	0.15066	T	0.55	-10.4232	16.9627	0.86277	0.0:0.0:1.0:0.0	.	351	Q6EMK4	VASN_HUMAN	T	351	ENSP00000306864:A351T	ENSP00000306864:A351T	A	+	1	0	VASN	4371930	0.992000	0.36948	0.955000	0.39395	0.954000	0.61252	3.279000	0.51670	2.607000	0.88179	0.579000	0.79373	GCC	.		0.662	VASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251632.1	NM_138440	
USP7	7874	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	9004639	9004639	+	Missense_Mutation	SNP	C	C	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:9004639C>G	ENST00000344836.4	-	11	1322	c.1124G>C	c.(1123-1125)gGg>gCg	p.G375A	USP7_ENST00000535863.1_Missense_Mutation_p.G276A|USP7_ENST00000381886.4_Missense_Mutation_p.G359A	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	375	USP.				maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						TTTATTGTCCCCATCGAGCTG	0.373																																					p.G375A		.											.	USP7-661	0			c.G1124C						.						165.0	135.0	145.0					16																	9004639		2197	4300	6497	SO:0001583	missense	7874	exon11			TTGTCCCCATCGA	Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"""Ubiquitin-specific peptidases"""	12630	protein-coding gene	gene with protein product		602519	"""ubiquitin specific protease 7 (herpes virus-associated)"""	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.1124G>C	16.37:g.9004639C>G	ENSP00000343535:p.Gly375Ala	78	0		68	32	NM_003470	0	0	18	37	19	A6NMY8|B7Z815|H0Y3G8	Missense_Mutation	SNP	ENST00000344836.4	37	CCDS32385.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.799115	0.90538	.	.	ENSG00000187555	ENST00000344836;ENST00000381886;ENST00000535863;ENST00000544549;ENST00000542333	T;T;T	0.08720	3.06;3.06;3.06	5.35	5.35	0.76521	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.36413	0.0966	M	0.86805	2.84	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74023	0.982;0.982	T	0.29761	-1.0001	10	0.87932	D	0	.	19.4169	0.94704	0.0:1.0:0.0:0.0	.	375;359	Q93009;B7Z815	UBP7_HUMAN;.	A	375;383;276;276;317	ENSP00000343535:G375A;ENSP00000443646:G276A;ENSP00000439272:G317A	ENSP00000343535:G375A	G	-	2	0	USP7	8912140	1.000000	0.71417	0.623000	0.29173	0.904000	0.53231	7.616000	0.83018	2.670000	0.90874	0.549000	0.68633	GGG	.		0.373	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434268.2		
USP7	7874	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	9004658	9004658	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:9004658C>T	ENST00000344836.4	-	11	1303	c.1105G>A	c.(1105-1107)Gca>Aca	p.A369T	USP7_ENST00000535863.1_Missense_Mutation_p.A270T|USP7_ENST00000381886.4_Missense_Mutation_p.A353T	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	369	USP.				maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						TGTTCTACTGCCACATAATCC	0.393																																					p.A369T		.											.	USP7-661	0			c.G1105A						.						140.0	116.0	124.0					16																	9004658		2197	4300	6497	SO:0001583	missense	7874	exon11			CTACTGCCACATA	Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"""Ubiquitin-specific peptidases"""	12630	protein-coding gene	gene with protein product		602519	"""ubiquitin specific protease 7 (herpes virus-associated)"""	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.1105G>A	16.37:g.9004658C>T	ENSP00000343535:p.Ala369Thr	74	0		64	25	NM_003470	0	0	13	36	23	A6NMY8|B7Z815|H0Y3G8	Missense_Mutation	SNP	ENST00000344836.4	37	CCDS32385.1	.	.	.	.	.	.	.	.	.	.	C	18.63	3.665087	0.67700	.	.	ENSG00000187555	ENST00000344836;ENST00000381886;ENST00000535863;ENST00000544549;ENST00000542333	T;T;T	0.05513	3.43;3.43;3.43	5.35	5.35	0.76521	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.07818	0.0196	L	0.38531	1.155	0.80722	D	1	B;B	0.23490	0.049;0.086	B;B	0.21708	0.036;0.036	T	0.36456	-0.9747	10	0.23302	T	0.38	.	19.4169	0.94704	0.0:1.0:0.0:0.0	.	369;353	Q93009;B7Z815	UBP7_HUMAN;.	T	369;377;270;270;311	ENSP00000343535:A369T;ENSP00000443646:A270T;ENSP00000439272:A311T	ENSP00000343535:A369T	A	-	1	0	USP7	8912159	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.616000	0.83018	2.670000	0.90874	0.549000	0.68633	GCA	.		0.393	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434268.2		
CLEC16A	23274	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	16	11272519	11272519	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:11272519C>T	ENST00000409790.1	+	24	3364	c.3134C>T	c.(3133-3135)gCt>gTt	p.A1045V	CLEC16A_ENST00000381822.2_Missense_Mutation_p.A132V	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A									p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GCTGCATGTGCTGAGCCTGTG	0.697																																					p.A1045V		.											.	CLEC16A-92	1	Whole gene deletion(1)	haematopoietic_and_lymphoid_tissue(1)	c.C3134T						.						10.0	14.0	13.0					16																	11272519		2086	4187	6273	SO:0001583	missense	23274	exon23			CATGTGCTGAGCC	AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"""C-type lectin domain containing"""	29013	protein-coding gene	gene with protein product		611303	"""KIAA0350"""	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.3134C>T	16.37:g.11272519C>T	ENSP00000387122:p.Ala1045Val	14	0		28	13	NM_015226	0	0	15	25	10		Missense_Mutation	SNP	ENST00000409790.1	37	CCDS45409.1	.	.	.	.	.	.	.	.	.	.	C	10.56	1.384694	0.25031	.	.	ENSG00000038532	ENST00000409790;ENST00000542102;ENST00000381822	T	0.43294	0.95	4.15	1.94	0.25998	.	0.807219	0.11184	N	0.590679	T	0.22205	0.0535	N	0.08118	0	0.09310	N	1	B;B	0.20550	0.046;0.002	B;B	0.15484	0.013;0.004	T	0.18304	-1.0341	10	0.56958	D	0.05	0.3148	7.5947	0.28041	0.187:0.6316:0.1814:0.0	.	132;1045	Q2KHT3-3;Q2KHT3	.;CL16A_HUMAN	V	1045;1045;132	ENSP00000387122:A1045V	ENSP00000371244:A132V	A	+	2	0	CLEC16A	11180020	0.000000	0.05858	0.001000	0.08648	0.010000	0.07245	-0.289000	0.08365	0.846000	0.35142	0.655000	0.94253	GCT	.		0.697	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328540.2	NM_015226	
NTAN1	123803	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	15131997	15131997	+	Nonsense_Mutation	SNP	A	A	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:15131997A>T	ENST00000287706.3	-	10	916	c.824T>A	c.(823-825)tTa>tAa	p.L275*	PDXDC1_ENST00000535621.2_Intron	NM_001270766.1|NM_173474.3	NP_001257695.1|NP_775745.1	Q96AB6	NTAN1_HUMAN	N-terminal asparagine amidase	275					adult locomotory behavior (GO:0008344)|memory (GO:0007613)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein-N-terminal asparagine amidohydrolase activity (GO:0008418)			endometrium(1)|large_intestine(4)|lung(3)	8						GTGTTTTTTTAAAAACATCAA	0.408																																					p.L275X		.											.	NTAN1-90	0			c.T824A						.						69.0	70.0	70.0					16																	15131997		2197	4300	6497	SO:0001587	stop_gained	123803	exon10			TTTTTTAAAAACA	AF092440	CCDS10558.1, CCDS73832.1	16p13	2008-02-05			ENSG00000157045	ENSG00000157045			29909	protein-coding gene	gene with protein product		615367				8910481	Standard	NM_173474		Approved		uc002ddd.4	Q96AB6	OTTHUMG00000129849	ENST00000287706.3:c.824T>A	16.37:g.15131997A>T	ENSP00000287706:p.Leu275*	101	0		121	41	NM_173474	0	0	27	47	20	Q7Z4Z0	Nonsense_Mutation	SNP	ENST00000287706.3	37	CCDS10558.1	.	.	.	.	.	.	.	.	.	.	A	26.4	4.734585	0.89482	.	.	ENSG00000157045	ENST00000287706	.	.	.	5.87	5.87	0.94306	.	0.163106	0.40144	N	0.001174	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-29.6469	15.7569	0.78037	1.0:0.0:0.0:0.0	.	.	.	.	X	275	.	ENSP00000287706:L275X	L	-	2	0	NTAN1	15039498	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.564000	0.82326	2.371000	0.80710	0.533000	0.62120	TTA	.		0.408	NTAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252089.1	NM_173474	
KIAA0430	9665	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	15725252	15725252	+	Missense_Mutation	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:15725252A>G	ENST00000396368.3	-	6	1543	c.1337T>C	c.(1336-1338)gTg>gCg	p.V446A	KIAA0430_ENST00000344181.3_Missense_Mutation_p.V268A|KIAA0430_ENST00000548025.1_Missense_Mutation_p.V443A|KIAA0430_ENST00000602337.1_Missense_Mutation_p.V443A|KIAA0430_ENST00000540441.2_Missense_Mutation_p.V446A|KIAA0430_ENST00000551742.1_Missense_Mutation_p.V446A	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	446	NYN.				double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						CACAAGAACCACTGTGGCTGG	0.438																																					p.V446A		.											.	KIAA0430-90	0			c.T1337C						.						80.0	77.0	78.0					16																	15725252		1951	4173	6124	SO:0001583	missense	9665	exon6			AGAACCACTGTGG	AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29562	protein-coding gene	gene with protein product	"""limkain b1"", ""protein phosphatase 1, regulatory subunit 34"", ""meiosis arrest female 1"""	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.1337T>C	16.37:g.15725252A>G	ENSP00000379654:p.Val446Ala	96	0		138	64	NM_014647	0	0	0	0	0	A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Missense_Mutation	SNP	ENST00000396368.3	37	CCDS10562.2	.	.	.	.	.	.	.	.	.	.	A	27.1	4.804476	0.90623	.	.	ENSG00000166783	ENST00000396368;ENST00000540441;ENST00000321370;ENST00000344181;ENST00000548025;ENST00000551742;ENST00000551298	.	.	.	5.24	5.24	0.73138	Domain of unknown function DUF88 (1);	0.000000	0.85682	D	0.000000	T	0.71643	0.3364	L	0.54323	1.7	0.34767	D	0.733325	D;D;D;D	0.69078	0.971;0.997;0.997;0.977	D;D;D;D	0.79784	0.956;0.993;0.993;0.983	T	0.81090	-0.1090	9	0.87932	D	0	.	15.1314	0.72527	1.0:0.0:0.0:0.0	.	445;443;442;445	Q9Y4F3-5;F8VV09;Q9Y4F3-4;Q9Y4F3	.;.;.;LKAP_HUMAN	A	446;446;445;268;443;446;446	.	ENSP00000315718:V445A	V	-	2	0	KIAA0430	15632753	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.701000	0.91331	1.977000	0.57605	0.528000	0.53228	GTG	.		0.438	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2	NM_014647	
MYH11	4629	hgsc.bcm.edu;bcgsc.ca	37	16	15802687	15802687	+	Intron	DEL	G	G	-	rs111588143	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:15802687delG	ENST00000300036.5	-	41	5896				MYH11_ENST00000452625.2_Frame_Shift_Del_p.P1940fs|NDE1_ENST00000342673.5_Intron|MYH11_ENST00000573908.1_Intron|NDE1_ENST00000396354.1_Intron|MYH11_ENST00000576790.2_Frame_Shift_Del_p.P1933fs|NDE1_ENST00000396355.1_Intron|MYH11_ENST00000396324.3_Intron	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle						axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						AGTTTCCTGTGGGGGGGGCCC	0.493			T	CBFB	AML																																p.P1940fs		.		Dom	yes		16	16p13.13-p13.12	4629	"""myosin, heavy polypeptide 11, smooth muscle"""		L	.	MYH11-666	0			c.5819delC						.						33.0	32.0	32.0					16																	15802687		2197	4300	6497	SO:0001627	intron_variant	4629	exon42			TCCTGTGGGGGGG	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.5787-4707C>-	16.37:g.15802687delG		72	2		100	37	NM_001040113	0	0	0	0	0	D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Frame_Shift_Del	DEL	ENST00000300036.5	37	CCDS10565.1																																																																																			.		0.493	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113	
ARL6IP1	23204	hgsc.bcm.edu;bcgsc.ca	37	16	18805952	18805954	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	TTG	TTG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:18805952_18805954delTTG	ENST00000304414.7	-	5	671_673	c.460_462delCAA	c.(460-462)caadel	p.Q154del	ARL6IP1_ENST00000546206.2_In_Frame_Del_p.Q125del|RP11-1035H13.3_ENST00000567078.2_In_Frame_Del_p.Q154del|ARL6IP1_ENST00000562819.1_Intron	NM_015161.1	NP_055976.1	Q15041	AR6P1_HUMAN	ADP-ribosylation factor-like 6 interacting protein 1	154					cell death (GO:0008219)|cotranslational protein targeting to membrane (GO:0006613)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|Sec61 translocon complex (GO:0005784)				breast(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)	11						GGTTGTGGACTTGTTGTCCCACC	0.414																																					p.154_154del		.											.	ARL6IP1-90	0			c.460_462del						.																																			SO:0001651	inframe_deletion	23204	exon5			GTGGACTTGTTGT	BC010281	CCDS10572.1	16p12-p11.2	2014-03-12	2006-09-26	2006-09-26	ENSG00000170540	ENSG00000170540			697	protein-coding gene	gene with protein product		607669	"""ADP-ribosylation factor-like 6 interacting protein"""	ARL6IP		24482476	Standard	NM_015161		Approved	AIP1, ARMER, KIAA0069, SPG61	uc002dfl.1	Q15041	OTTHUMG00000131367	ENST00000304414.7:c.460_462delCAA	16.37:g.18805955_18805957delTTG	ENSP00000306788:p.Gln154del	454	1		556	244	NM_015161	0	0	0	0	0		In_Frame_Del	DEL	ENST00000304414.7	37	CCDS10572.1																																																																																			.		0.414	ARL6IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254156.2	NM_015161	
TMC7	79905	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	19051758	19051758	+	Missense_Mutation	SNP	A	A	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:19051758A>C	ENST00000304381.5	+	9	1457	c.1327A>C	c.(1327-1329)Aca>Cca	p.T443P	TMC7_ENST00000569532.1_Missense_Mutation_p.T443P|TMC7_ENST00000421369.3_Missense_Mutation_p.T333P	NM_024847.3	NP_079123.3	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	443					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						GATCCGTCTGACAATCCTTAG	0.468																																					p.T443P		.											.	TMC7-93	0			c.A1327C						.						104.0	94.0	97.0					16																	19051758		2197	4300	6497	SO:0001583	missense	79905	exon9			CGTCTGACAATCC	AY263165	CCDS10573.1, CCDS53992.1, CCDS73837.1	16p13.11	2008-02-05			ENSG00000170537	ENSG00000170537			23000	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005255597		Approved	FLJ21240	uc002dfq.3	Q7Z402	OTTHUMG00000131456	ENST00000304381.5:c.1327A>C	16.37:g.19051758A>C	ENSP00000304710:p.Thr443Pro	39	0		45	20	NM_024847	0	0	0	0	0	E7ERB6|Q5H9Q8|Q7Z5M4|Q86WX0|Q9H766	Missense_Mutation	SNP	ENST00000304381.5	37	CCDS10573.1	.	.	.	.	.	.	.	.	.	.	A	18.45	3.626336	0.66901	.	.	ENSG00000170537	ENST00000304381;ENST00000421369	T;T	0.73152	-0.72;-0.72	4.46	4.46	0.54185	.	0.000000	0.85682	D	0.000000	D	0.83266	0.5217	M	0.83384	2.64	0.51012	D	0.999901	P;D	0.55800	0.933;0.973	P;D	0.64687	0.886;0.928	D	0.85256	0.1047	10	0.52906	T	0.07	.	13.7328	0.62799	1.0:0.0:0.0:0.0	.	443;443	Q7Z402;B3KSZ3	TMC7_HUMAN;.	P	443;333	ENSP00000304710:T443P;ENSP00000397081:T333P	ENSP00000304710:T443P	T	+	1	0	TMC7	18959259	1.000000	0.71417	0.985000	0.45067	0.955000	0.61496	6.030000	0.70903	1.646000	0.50622	0.341000	0.21757	ACA	.		0.468	TMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254276.3	NM_024847	
GPRC5B	51704	ucsc.edu;bcgsc.ca	37	16	19883815	19883815	+	Missense_Mutation	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:19883815T>C	ENST00000300571.2	-	2	544	c.353A>G	c.(352-354)gAc>gGc	p.D118G	GPRC5B_ENST00000537135.1_Missense_Mutation_p.D144G|GPRC5B_ENST00000535671.1_Missense_Mutation_p.D118G|GPRC5B_ENST00000569847.1_Missense_Mutation_p.D118G|GPRC5B_ENST00000569479.1_Missense_Mutation_p.D118G	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, class C, group 5, member B	118					glucose homeostasis (GO:0042593)|locomotory behavior (GO:0007626)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein tyrosine kinase activity (GO:0061098)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						GATGGTCTCGTCCTCCTGGAT	0.622																																					p.D118G		.											.	GPRC5B-523	0			c.A353G						.						30.0	27.0	28.0					16																	19883815		2197	4300	6497	SO:0001583	missense	51704	exon2			GTCTCGTCCTCCT	AF202640	CCDS10581.1	16p12	2014-01-30	2014-01-30		ENSG00000167191	ENSG00000167191		"""GPCR / Class C : Orphans"""	13308	protein-coding gene	gene with protein product		605948	"""G protein-coupled receptor, family C, group 1, member B"", ""G protein-coupled receptor, family C, group 5, member B"""			10493829, 10783259	Standard	XM_005255357		Approved	RAIG-2	uc002dgt.3	Q9NZH0	OTTHUMG00000131460	ENST00000300571.2:c.353A>G	16.37:g.19883815T>C	ENSP00000300571:p.Asp118Gly	252	3		427	200	NM_016235	0	0	5	6	1	D2DFB0|O75205|Q8NBZ8	Missense_Mutation	SNP	ENST00000300571.2	37	CCDS10581.1	.	.	.	.	.	.	.	.	.	.	T	17.60	3.431114	0.62844	.	.	ENSG00000167191	ENST00000300571;ENST00000535671;ENST00000537135	D;D;D	0.88124	-2.34;-2.34;-2.34	5.8	4.68	0.58851	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.91503	0.7317	M	0.64997	1.995	0.49798	D	0.999821	D;D	0.76494	0.98;0.999	P;D	0.85130	0.779;0.997	D	0.90484	0.4462	9	.	.	.	.	12.2105	0.54377	0.0:0.0:0.1425:0.8575	.	144;118	B7Z831;Q9NZH0	.;GPC5B_HUMAN	G	118;118;144	ENSP00000300571:D118G;ENSP00000442858:D118G;ENSP00000441775:D144G	.	D	-	2	0	GPRC5B	19791316	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	5.025000	0.64097	0.982000	0.38575	0.533000	0.62120	GAC	.		0.622	GPRC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254285.1		
PDILT	204474	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	16	20376740	20376740	+	Splice_Site	SNP	A	A	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:20376740A>T	ENST00000302451.4	-	9	1486		c.e9+1			NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed						cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						GGAGATACTTACAGAACATCA	0.433																																					.		.											.	PDILT-153	0			c.1237+2T>A						.						149.0	138.0	142.0					16																	20376740		2203	4300	6503	SO:0001630	splice_region_variant	204474	exon10			ATACTTACAGAAC		CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"""Protein disulfide isomerases"""	27338	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 7"", ""protein disulfide isomerase-like protein of the testis"""					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.1237+1T>A	16.37:g.20376740A>T		74	0		98	44	NM_174924	0	0	0	0	0	Q8IVQ5	Splice_Site	SNP	ENST00000302451.4	37	CCDS10584.1	.	.	.	.	.	.	.	.	.	.	A	17.07	3.296291	0.60086	.	.	ENSG00000169340	ENST00000302451	.	.	.	5.02	5.02	0.67125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.7468	0.57285	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PDILT	20284241	1.000000	0.71417	0.999000	0.59377	0.688000	0.40055	6.283000	0.72646	2.119000	0.64992	0.455000	0.32223	.	.		0.433	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1	NM_174924	Intron
PDILT	204474	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	20396090	20396090	+	Missense_Mutation	SNP	T	T	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:20396090T>A	ENST00000302451.4	-	3	534	c.286A>T	c.(286-288)Atc>Ttc	p.I96F	RP11-429K17.1_ENST00000577173.1_RNA	NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	96					cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						CCAAAGCCGATCCCATTCTTG	0.498																																					p.I96F		.											.	PDILT-153	0			c.A286T						.						330.0	320.0	323.0					16																	20396090		2203	4300	6503	SO:0001583	missense	204474	exon3			AGCCGATCCCATT		CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"""Protein disulfide isomerases"""	27338	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 7"", ""protein disulfide isomerase-like protein of the testis"""					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.286A>T	16.37:g.20396090T>A	ENSP00000305465:p.Ile96Phe	87	0		120	45	NM_174924	0	0	0	0	0	Q8IVQ5	Missense_Mutation	SNP	ENST00000302451.4	37	CCDS10584.1	.	.	.	.	.	.	.	.	.	.	T	12.90	2.076813	0.36662	.	.	ENSG00000169340	ENST00000302451	T	0.03920	3.76	5.43	-10.9	0.00192	Thioredoxin domain (1);Thioredoxin-like fold (2);	0.783323	0.11735	N	0.534561	T	0.05502	0.0145	L	0.52126	1.63	0.09310	N	1	D	0.54772	0.968	P	0.50314	0.637	T	0.05550	-1.0878	10	0.87932	D	0	.	5.0032	0.14275	0.0831:0.1128:0.354:0.4501	.	96	Q8N807	PDILT_HUMAN	F	96	ENSP00000305465:I96F	ENSP00000305465:I96F	I	-	1	0	PDILT	20303591	0.000000	0.05858	0.000000	0.03702	0.697000	0.40408	-1.959000	0.01518	-3.455000	0.00160	-1.119000	0.02030	ATC	.		0.498	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1	NM_174924	
VWA3A	146177	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	16	22135022	22135022	+	Frame_Shift_Del	DEL	A	A	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:22135022delA	ENST00000389398.5	+	16	1622	c.1526delA	c.(1525-1527)gaafs	p.E509fs	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	509						extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		ACAGTCTGTGAAAAAAGGTAC	0.498																																					p.E509fs		.											.	VWA3A-1	0			c.1526delA						.						103.0	106.0	105.0					16																	22135022		1983	4164	6147	SO:0001589	frameshift_variant	146177	exon16			TCTGTGAAAAAAG	AK128606, AK098260	CCDS45441.1	16p12.1	2008-02-05				ENSG00000175267			27088	protein-coding gene	gene with protein product						12477932	Standard	XM_006721021		Approved	FLJ46765, FLJ40941	uc010vbq.2	A6NCI4		ENST00000389398.5:c.1526delA	16.37:g.22135022delA	ENSP00000374049:p.Glu509fs	85	0		118	36	NM_173615	0	0	0	0	0	A4QMU8|A6NNC0|Q6UTX4|Q6ZQZ9|Q8IUY6|Q8N9W1	Frame_Shift_Del	DEL	ENST00000389398.5	37	CCDS45441.1																																																																																			.		0.498	VWA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430052.1		
COG7	91949	broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	23424846	23424846	+	Silent	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:23424846T>C	ENST00000307149.5	-	10	1517	c.1332A>G	c.(1330-1332)cgA>cgG	p.R444R	RN7SKP23_ENST00000517029.1_RNA	NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	444					intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to Golgi apparatus (GO:0034067)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		TGCACTTCTTTCGTATGGACT	0.483																																					p.R444R		.											.	COG7-90	0			c.A1332G						.						156.0	129.0	138.0					16																	23424846		2197	4300	6497	SO:0001819	synonymous_variant	91949	exon10			CTTCTTTCGTATG	AF070568	CCDS10610.1	16p12.2	2008-02-05			ENSG00000168434	ENSG00000168434		"""Components of oligomeric golgi complex"""	18622	protein-coding gene	gene with protein product		606978				11980916	Standard	NM_153603		Approved		uc002dlo.3	P83436	OTTHUMG00000094807	ENST00000307149.5:c.1332A>G	16.37:g.23424846T>C		165	2		210	93	NM_153603	0	0	18	53	35	Q6UWU7	Silent	SNP	ENST00000307149.5	37	CCDS10610.1																																																																																			.		0.483	COG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211625.1		
GGA2	23062	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	23481455	23481455	+	Silent	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:23481455C>T	ENST00000309859.4	-	15	1564	c.1482G>A	c.(1480-1482)cgG>cgA	p.R494R	GGA2_ENST00000567468.1_Intron	NM_015044.4	NP_055859.1	Q9UJY4	GGA2_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 2	494	GAE. {ECO:0000255|PROSITE- ProRule:PRU00093}.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		TGAATCCATTCCGGTCATACA	0.572																																					p.R494R		.											.	GGA2-91	0			c.G1482A						.						61.0	62.0	61.0					16																	23481455		2197	4300	6497	SO:0001819	synonymous_variant	23062	exon15			TCCATTCCGGTCA	AF190863	CCDS10611.1	16p12	2010-02-12	2010-02-12		ENSG00000103365	ENSG00000103365			16064	protein-coding gene	gene with protein product		606005				10747088, 10749927	Standard	NM_015044		Approved	VEAR, KIAA1080	uc002dlq.3	Q9UJY4	OTTHUMG00000096957	ENST00000309859.4:c.1482G>A	16.37:g.23481455C>T		83	0		94	36	NM_015044	0	0	35	81	46	D3DWF0|O14564|Q9NYN2|Q9UPS2	Silent	SNP	ENST00000309859.4	37	CCDS10611.1																																																																																			.		0.572	GGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214019.1		
EARS2	124454	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	23555852	23555852	+	Silent	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:23555852C>T	ENST00000563459.1	-	3	474	c.468G>A	c.(466-468)cgG>cgA	p.R156R	EARS2_ENST00000564987.1_5'UTR|EARS2_ENST00000564501.1_Silent_p.R156R|EARS2_ENST00000563232.1_Silent_p.R156R|EARS2_ENST00000449606.1_Silent_p.R156R			Q5JPH6	SYEM_HUMAN	glutamyl-tRNA synthetase 2, mitochondrial	156					gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|tRNA aminoacylation for mitochondrial protein translation (GO:0070127)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|glutamate-tRNA(Gln) ligase activity (GO:0050561)|tRNA binding (GO:0000049)			central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(48;0.0353)		TCTGGTGGTTCCGCAAGGCCT	0.557																																					p.R156R		.											.	EARS2-90	0			c.G468A						.						42.0	47.0	46.0					16																	23555852		1961	4134	6095	SO:0001819	synonymous_variant	124454	exon3			GTGGTTCCGCAAG	AB075850	CCDS42132.1	16p12.2	2014-05-06	2012-10-26		ENSG00000103356	ENSG00000103356	6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"""	29419	protein-coding gene	gene with protein product	"""glutamate tRNA ligase 2, mitochondrial"""	612799	"""glutamyl-tRNA synthetase 2, mitochondrial (putative)"""			15779907, 19805282, 22492562	Standard	NM_001083614		Approved	KIAA1970, MSE1	uc002dlt.4	Q5JPH6	OTTHUMG00000177018	ENST00000563459.1:c.468G>A	16.37:g.23555852C>T		22	0		25	10	NM_001083614	0	0	10	23	13	B3KTT2|D3DWF1|Q86YH3|Q8TF31	Silent	SNP	ENST00000563459.1	37	CCDS42132.1																																																																																			.		0.557	EARS2-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434844.1	NM_133451	
EARS2	124454	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	23555917	23555917	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:23555917C>T	ENST00000563459.1	-	3	409	c.403G>A	c.(403-405)Gga>Aga	p.G135R	EARS2_ENST00000564987.1_Intron|EARS2_ENST00000564501.1_Missense_Mutation_p.G135R|EARS2_ENST00000563232.1_Missense_Mutation_p.G135R|EARS2_ENST00000449606.1_Missense_Mutation_p.G135R			Q5JPH6	SYEM_HUMAN	glutamyl-tRNA synthetase 2, mitochondrial	135					gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|tRNA aminoacylation for mitochondrial protein translation (GO:0070127)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|glutamate-tRNA(Gln) ligase activity (GO:0050561)|tRNA binding (GO:0000049)			central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(48;0.0353)		TAAGCAGCTCCGGTCTTCAGC	0.642																																					p.G135R		.											.	EARS2-90	0			c.G403A						.						31.0	35.0	34.0					16																	23555917		1977	4157	6134	SO:0001583	missense	124454	exon3			CAGCTCCGGTCTT	AB075850	CCDS42132.1	16p12.2	2014-05-06	2012-10-26		ENSG00000103356	ENSG00000103356	6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"""	29419	protein-coding gene	gene with protein product	"""glutamate tRNA ligase 2, mitochondrial"""	612799	"""glutamyl-tRNA synthetase 2, mitochondrial (putative)"""			15779907, 19805282, 22492562	Standard	NM_001083614		Approved	KIAA1970, MSE1	uc002dlt.4	Q5JPH6	OTTHUMG00000177018	ENST00000563459.1:c.403G>A	16.37:g.23555917C>T	ENSP00000456467:p.Gly135Arg	36	0		46	25	NM_001083614	0	0	24	31	7	B3KTT2|D3DWF1|Q86YH3|Q8TF31	Missense_Mutation	SNP	ENST00000563459.1	37	CCDS42132.1	.	.	.	.	.	.	.	.	.	.	C	19.75	3.885378	0.72410	.	.	ENSG00000103356	ENST00000449606;ENST00000341597	T	0.40476	1.03	5.8	5.8	0.92144	Glutamyl/glutaminyl-tRNA synthetase, class Ib, catalytic domain (1);	0.123987	0.56097	D	0.000027	T	0.74321	0.3701	M	0.92077	3.27	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.975	T	0.80233	-0.1467	10	0.87932	D	0	-2.0415	19.0369	0.92982	0.0:1.0:0.0:0.0	.	135;135	Q86YH3;Q5JPH6	.;SYEM_HUMAN	R	135	ENSP00000395196:G135R	ENSP00000343488:G135R	G	-	1	0	EARS2	23463418	0.994000	0.37717	0.921000	0.36526	0.560000	0.35617	4.338000	0.59316	2.742000	0.94016	0.655000	0.94253	GGA	.		0.642	EARS2-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434844.1	NM_133451	
ERN2	10595	broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	23706207	23706207	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:23706207G>A	ENST00000457008.2	-	16	1824	c.1786C>T	c.(1786-1788)Cct>Tct	p.P596S	ERN2_ENST00000256797.4_Missense_Mutation_p.P696S					endoplasmic reticulum to nucleus signaling 2											large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		TGGCTGTCAGGCCCGGTGATG	0.622																																					p.P696S		.											.	ERN2-322	0			c.C2086T						.						43.0	43.0	43.0					16																	23706207		2197	4300	6497	SO:0001583	missense	10595	exon17			TGTCAGGCCCGGT	AA527544	CCDS32407.1	16p12.2	2008-02-05	2007-08-14			ENSG00000134398			16942	protein-coding gene	gene with protein product		604034	"""ER to nucleus signalling 2"""			9755171, 11175748	Standard	NM_033266		Approved	IRE1b	uc002dma.4	Q76MJ5		ENST00000457008.2:c.1786C>T	16.37:g.23706207G>A	ENSP00000413812:p.Pro596Ser	103	1		112	55	NM_033266	0	0	0	0	0		Missense_Mutation	SNP	ENST00000457008.2	37		.	.	.	.	.	.	.	.	.	.	G	14.95	2.688586	0.48097	.	.	ENSG00000134398	ENST00000256797;ENST00000457008	T;T	0.63580	-0.05;-0.05	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.63815	0.2543	N	0.11000	0.08	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.66460	-0.5918	10	0.36615	T	0.2	.	16.9969	0.86370	0.0:0.0:1.0:0.0	.	596;648	E7ETG2;A5YM65	.;.	S	696;596	ENSP00000256797:P696S;ENSP00000413812:P596S	ENSP00000256797:P696S	P	-	1	0	ERN2	23613708	1.000000	0.71417	1.000000	0.80357	0.141000	0.21300	9.341000	0.97041	2.676000	0.91093	0.655000	0.94253	CCT	.		0.622	ERN2-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000434886.1		
IL21R	50615	ucsc.edu;bcgsc.ca	37	16	27460153	27460153	+	Missense_Mutation	SNP	C	C	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:27460153C>G	ENST00000337929.3	+	9	1639	c.1166C>G	c.(1165-1167)aCc>aGc	p.T389S	IL21R_ENST00000564089.1_Missense_Mutation_p.T389S|IL21R_ENST00000395755.1_Missense_Mutation_p.T389S|IL21R_ENST00000395754.4_Missense_Mutation_p.T389S|IL21R-AS1_ENST00000563191.1_RNA	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	389					interleukin-21-mediated signaling pathway (GO:0038114)|natural killer cell activation (GO:0030101)	integral component of membrane (GO:0016021)	interleukin-21 receptor activity (GO:0001532)			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						GGGCCATGCACCTGGCCCTGC	0.632			T	BCL6	NHL																																p.T411S		.		Dom	yes		16	16p11	50615	interleukin 21 receptor		L	.	IL21R-660	0			c.C1232G						.						60.0	58.0	59.0					16																	27460153		2197	4300	6497	SO:0001583	missense	50615	exon10			CATGCACCTGGCC	AF254067	CCDS10630.1	16p11	2014-09-17			ENSG00000103522	ENSG00000103522		"""Interleukins and interleukin receptors"", ""CD molecules"""	6006	protein-coding gene	gene with protein product		605383				11081504	Standard	NM_181078		Approved	CD360	uc002dos.2	Q9HBE5	OTTHUMG00000131675	ENST00000337929.3:c.1166C>G	16.37:g.27460153C>G	ENSP00000338010:p.Thr389Ser	107	2		109	49	NM_181079	0	0	0	0	0	A8K9E8|D3DWF7|Q96HZ1|Q9HB91	Missense_Mutation	SNP	ENST00000337929.3	37	CCDS10630.1	.	.	.	.	.	.	.	.	.	.	C	2.164	-0.391595	0.04932	.	.	ENSG00000103522	ENST00000337929;ENST00000395755;ENST00000395754	T;T;T	0.32988	1.43;1.43;1.43	5.19	-2.58	0.06228	.	1.677020	0.02867	N	0.131041	T	0.13628	0.0330	N	0.08118	0	0.09310	N	1	B	0.22480	0.07	B	0.21151	0.033	T	0.17531	-1.0366	10	0.08179	T	0.78	-5.4988	6.1739	0.20433	0.129:0.2953:0.4958:0.0799	.	389	Q9HBE5	IL21R_HUMAN	S	389	ENSP00000338010:T389S;ENSP00000379104:T389S;ENSP00000379103:T389S	ENSP00000338010:T389S	T	+	2	0	IL21R	27367654	0.000000	0.05858	0.002000	0.10522	0.094000	0.18550	-1.454000	0.02381	-0.348000	0.08286	0.561000	0.74099	ACC	.		0.632	IL21R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254578.2	NM_181078	
GTF3C1	2975	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	27549248	27549248	+	Splice_Site	SNP	C	C	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:27549248C>A	ENST00000356183.4	-	4	624	c.609G>T	c.(607-609)aaG>aaT	p.K203N	GTF3C1_ENST00000561623.1_Splice_Site_p.K203N	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	203					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						CAGCATCAACCCTGGAGGAAA	0.453																																					p.K203N		.											.	GTF3C1-94	0			c.G609T						.						67.0	66.0	67.0					16																	27549248		2197	4300	6497	SO:0001630	splice_region_variant	2975	exon4			ATCAACCCTGGAG	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.609-1G>T	16.37:g.27549248C>A		86	0		94	53	NM_001520	0	0	0	0	0	B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	37	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	C	18.02	3.531079	0.64972	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.26957	1.7	5.82	3.88	0.44766	.	0.108809	0.64402	D	0.000008	T	0.40094	0.1103	L	0.44542	1.39	0.40396	D	0.979599	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.28364	-1.0046	10	0.62326	D	0.03	.	10.4774	0.44674	0.0:0.7928:0.0:0.2072	.	203;203	Q12789;Q12789-3	TF3C1_HUMAN;.	N	203;201	ENSP00000348510:K203N	ENSP00000348510:K203N	K	-	3	2	GTF3C1	27456749	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	0.749000	0.26320	1.470000	0.48102	0.655000	0.94253	AAG	.		0.453	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520	Missense_Mutation
KIAA0556	23247	ucsc.edu;bcgsc.ca;mdanderson.org	37	16	27761402	27761402	+	Missense_Mutation	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:27761402A>G	ENST00000261588.4	+	16	3140	c.3121A>G	c.(3121-3123)Acc>Gcc	p.T1041A		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1041						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						GGTGAACAGGACCCAGGATGA	0.552																																					p.T1041A		.											.	KIAA0556-141	0			c.A3121G						.						81.0	71.0	74.0					16																	27761402		2197	4300	6497	SO:0001583	missense	23247	exon16			AACAGGACCCAGG	AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.3121A>G	16.37:g.27761402A>G	ENSP00000261588:p.Thr1041Ala	140	2		169	79	NM_015202	0	0	4	7	3	A7E2C2	Missense_Mutation	SNP	ENST00000261588.4	37	CCDS32415.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.400637	0.83120	.	.	ENSG00000047578	ENST00000261588	T	0.24723	1.84	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.63628	0.2527	H	0.95611	3.695	0.46701	D	0.999164	D	0.89917	1.0	D	0.91635	0.999	T	0.75900	-0.3154	10	0.72032	D	0.01	-15.0484	15.0765	0.72080	1.0:0.0:0.0:0.0	.	1041	O60303	K0556_HUMAN	A	1041	ENSP00000261588:T1041A	ENSP00000261588:T1041A	T	+	1	0	KIAA0556	27668903	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.128000	0.77217	2.085000	0.62840	0.533000	0.62120	ACC	.		0.552	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202	
ATXN2L	11273	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	16	28841942	28841942	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:28841942G>A	ENST00000336783.4	+	9	1208	c.1041G>A	c.(1039-1041)ggG>ggA	p.G347G	RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000325215.6_Silent_p.G347G|ATXN2L_ENST00000382686.4_Silent_p.G347G|ATXN2L_ENST00000395547.2_Silent_p.G347G|ATXN2L_ENST00000570200.1_Silent_p.G347G|ATXN2L_ENST00000340394.8_Silent_p.G347G|ATXN2L_ENST00000564304.1_Silent_p.G347G	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	347					regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						TCAGGGAGGGGAAGTATATCC	0.557																																					p.G347G		.											.	ATXN2L-92	0			c.G1041A						.						38.0	37.0	38.0					16																	28841942		2197	4300	6497	SO:0001819	synonymous_variant	11273	exon9			GGAGGGGAAGTAT		CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.1041G>A	16.37:g.28841942G>A		55	0		68	38	NM_148414	0	0	0	0	0	A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Silent	SNP	ENST00000336783.4	37	CCDS10641.1																																																																																			.		0.557	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214139.1	NM_007245	
ATXN2L	11273	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	28848085	28848085	+	3'UTR	SNP	C	C	T	rs188659783		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:28848085C>T	ENST00000336783.4	+	0	3894				RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000325215.6_Silent_p.P1051P|ATXN2L_ENST00000382686.4_Silent_p.P1033P|ATXN2L_ENST00000395547.2_3'UTR|ATXN2L_ENST00000570200.1_Missense_Mutation_p.P1059L|ATXN2L_ENST00000340394.8_Missense_Mutation_p.P1041L|ATXN2L_ENST00000564304.1_Missense_Mutation_p.P1065L	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like						regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CCCTTCCACCCCCCGGGGAAC	0.582													.|||	1	0.000199681	0.0	0.0014	5008	,	,		15687	0.0		0.0	False		,,,				2504	0.0				p.P1059L		.											.	ATXN2L-92	0			c.C3176T						.						111.0	96.0	101.0					16																	28848085		2197	4300	6497	SO:0001624	3_prime_UTR_variant	11273	exon23			TCCACCCCCCGGG		CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.*499C>T	16.37:g.28848085C>T		61	0		108	53	NM_017492	0	0	73	132	59	A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Missense_Mutation	SNP	ENST00000336783.4	37	CCDS10641.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	.	13.48	2.249690	0.39797	.	.	ENSG00000168488	ENST00000340394	T	0.52295	0.67	5.23	5.23	0.72850	.	.	.	.	.	T	0.45498	0.1345	.	.	.	0.80722	D	1	P;P	0.37781	0.608;0.573	B;B	0.35278	0.098;0.199	T	0.52578	-0.8557	8	0.87932	D	0	.	17.5688	0.87928	0.0:1.0:0.0:0.0	.	1059;1041	Q63ZY4;Q8WWM7-4	.;.	L	1041	ENSP00000341459:P1041L	ENSP00000341459:P1041L	P	+	2	0	ATXN2L	28755586	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.227000	0.65305	2.442000	0.82660	0.557000	0.71058	CCC	C|0.999;T|0.000		0.582	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214139.1	NM_007245	
ATP2A1	487	broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	28913320	28913320	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:28913320C>T	ENST00000357084.3	+	16	2504	c.2237C>T	c.(2236-2238)gCt>gTt	p.A746V	ATP2A1_ENST00000395503.4_Missense_Mutation_p.A746V|ATP2A1_ENST00000536376.1_Missense_Mutation_p.A621V	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	746					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						ATCGTAGCTGCTGTGGAGGAG	0.582																																					p.A746V		.											.	ATP2A1-93	0			c.C2237T						.						141.0	103.0	116.0					16																	28913320		2197	4300	6497	SO:0001583	missense	487	exon16			TAGCTGCTGTGGA		CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"""ATPases / P-type"""	811	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 1"", ""calcium pump 1"""	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.2237C>T	16.37:g.28913320C>T	ENSP00000349595:p.Ala746Val	231	3		290	118	NM_004320	0	0	2	2	0	A8K5J9|B3KY17|O14984	Missense_Mutation	SNP	ENST00000357084.3	37	CCDS10643.1	.	.	.	.	.	.	.	.	.	.	C	35	5.512799	0.96402	.	.	ENSG00000196296	ENST00000357084;ENST00000395503;ENST00000395498;ENST00000536376	D;D;D	0.98512	-4.97;-4.97;-4.97	5.12	5.12	0.69794	HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.98988	0.9655	M	0.87180	2.865	0.80722	D	1	D;D;D	0.63880	0.987;0.988;0.993	P;P;D	0.68483	0.885;0.908;0.958	D	0.99780	1.1027	10	0.87932	D	0	.	17.315	0.87221	0.0:1.0:0.0:0.0	.	621;746;746	B3KY17;O14983;O14983-2	.;AT2A1_HUMAN;.	V	746;746;783;621	ENSP00000349595:A746V;ENSP00000378879:A746V;ENSP00000443101:A621V	ENSP00000349595:A746V	A	+	2	0	ATP2A1	28820821	1.000000	0.71417	0.974000	0.42286	0.976000	0.68499	7.736000	0.84948	2.378000	0.81104	0.561000	0.74099	GCT	.		0.582	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254686.2	NM_004320	
CD19	930	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	28943679	28943679	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:28943679C>T	ENST00000324662.3	+	2	145	c.101C>T	c.(100-102)gCt>gTt	p.A34V	CD19_ENST00000538922.1_Missense_Mutation_p.A34V|CD19_ENST00000567541.1_Missense_Mutation_p.A34V			P15391	CD19_HUMAN	CD19 molecule	34	Ig-like C2-type 1.				B cell receptor signaling pathway (GO:0050853)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|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)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor signaling protein activity (GO:0005057)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						GGAGATAACGCTGTGCTGCAG	0.612																																					p.A34V		.											.	CD19-92	0			c.C101T						.						21.0	24.0	23.0					16																	28943679		2194	4300	6494	SO:0001583	missense	930	exon2			ATAACGCTGTGCT		CCDS10644.1, CCDS53998.1	16p11.2	2014-09-17	2006-03-28		ENSG00000177455	ENSG00000177455		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1633	protein-coding gene	gene with protein product		107265	"""CD19 antigen"""				Standard	NM_001770		Approved		uc010byo.2	P15391	OTTHUMG00000097049	ENST00000324662.3:c.101C>T	16.37:g.28943679C>T	ENSP00000313419:p.Ala34Val	58	0		92	48	NM_001178098	0	0	0	0	0	A0N0P9|F5H635|Q96S68|Q9BRD6	Missense_Mutation	SNP	ENST00000324662.3	37	CCDS10644.1	.	.	.	.	.	.	.	.	.	.	C	17.66	3.443444	0.63067	.	.	ENSG00000177455	ENST00000538922;ENST00000380673;ENST00000324662	T;T	0.34667	1.35;1.35	5.7	3.73	0.42828	Immunoglobulin subtype (1);Immunoglobulin-like (1);	0.397052	0.21484	N	0.073781	T	0.20333	0.0489	N	0.20986	0.625	0.09310	N	1	P;P	0.42078	0.728;0.77	B;B	0.36030	0.137;0.216	T	0.06844	-1.0804	10	0.27785	T	0.31	-4.6808	8.0573	0.30612	0.0:0.8114:0.0:0.1886	.	34;34	F5H635;P15391	.;CD19_HUMAN	V	34;19;34	ENSP00000437940:A34V;ENSP00000313419:A34V	ENSP00000313419:A34V	A	+	2	0	CD19	28851180	0.001000	0.12720	0.005000	0.12908	0.193000	0.23685	0.284000	0.18864	0.736000	0.32559	0.563000	0.77884	GCT	.		0.612	CD19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214152.2		
CD19	930	ucsc.edu;bcgsc.ca	37	16	28946768	28946768	+	Missense_Mutation	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:28946768T>C	ENST00000324662.3	+	5	883	c.839T>C	c.(838-840)cTa>cCa	p.L280P	CD19_ENST00000538922.1_Missense_Mutation_p.L280P|CD19_ENST00000567541.1_Missense_Mutation_p.L280P			P15391	CD19_HUMAN	CD19 molecule	280					B cell receptor signaling pathway (GO:0050853)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|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)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor signaling protein activity (GO:0005057)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						CCCCTAGTACTATGGCACTGG	0.542																																					p.L280P		.											.	CD19-92	0			c.T839C						.						216.0	166.0	183.0					16																	28946768		2197	4300	6497	SO:0001583	missense	930	exon5			TAGTACTATGGCA		CCDS10644.1, CCDS53998.1	16p11.2	2014-09-17	2006-03-28		ENSG00000177455	ENSG00000177455		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1633	protein-coding gene	gene with protein product		107265	"""CD19 antigen"""				Standard	NM_001770		Approved		uc010byo.2	P15391	OTTHUMG00000097049	ENST00000324662.3:c.839T>C	16.37:g.28946768T>C	ENSP00000313419:p.Leu280Pro	125	2		160	79	NM_001178098	0	0	0	0	0	A0N0P9|F5H635|Q96S68|Q9BRD6	Missense_Mutation	SNP	ENST00000324662.3	37	CCDS10644.1	.	.	.	.	.	.	.	.	.	.	T	13.37	2.217088	0.39201	.	.	ENSG00000177455	ENST00000538922;ENST00000380673;ENST00000324662;ENST00000537306	T;T	0.39229	1.09;1.09	5.05	5.05	0.67936	.	0.550325	0.15014	N	0.285372	T	0.40932	0.1137	L	0.36672	1.1	0.09310	N	0.999991	D;P	0.54207	0.965;0.94	P;B	0.47981	0.563;0.36	T	0.31052	-0.9957	10	0.72032	D	0.01	-1.9333	11.1789	0.48616	0.0:0.0:0.0:1.0	.	280;280	F5H635;P15391	.;CD19_HUMAN	P	280;87;280;129	ENSP00000437940:L280P;ENSP00000313419:L280P	ENSP00000313419:L280P	L	+	2	0	CD19	28854269	0.402000	0.25311	0.007000	0.13788	0.462000	0.32619	2.134000	0.42102	1.893000	0.54813	0.260000	0.18958	CTA	.		0.542	CD19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214152.2		
PAGR1	79447	broad.mit.edu;bcgsc.ca;mdanderson.org	37	16	29827951	29827951	+	Missense_Mutation	SNP	T	T	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:29827951T>A	ENST00000320330.6	+	1	667	c.105T>A	c.(103-105)gaT>gaA	p.D35E	AC009133.12_ENST00000569809.1_RNA|PAGR1_ENST00000609618.1_Missense_Mutation_p.D35E|AC009133.12_ENST00000564980.1_RNA|AC009133.20_ENST00000569039.1_RNA			Q9BTK6	PAGR1_HUMAN	PAXIP1 associated glutamate-rich protein 1	35						histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)											CCGTGGAGGATACCGGAGGCC	0.711											OREG0023722	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.D35E		.											.	.	0			c.T105A						.						7.0	8.0	8.0					16																	29827951		2135	4228	6363	SO:0001583	missense	79447	exon1			GGAGGATACCGGA	BC003640	CCDS10655.1	16p11.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000185928	ENSG00000185928			28707	protein-coding gene	gene with protein product	"""glutamate-rich coactivator interacting with SRC1/NCOA1"", ""PTIP-associated 1 protein"", ""glutamate-rich coactivator associated with SRC1"""	612033	"""chromosome 16 open reading frame 53"""	C16orf53		17500065, 19039327	Standard	NM_024516		Approved	MGC4606, GAS, PA1	uc002dug.4	Q9BTK6	OTTHUMG00000132117	ENST00000320330.6:c.105T>A	16.37:g.29827951T>A	ENSP00000326519:p.Asp35Glu	49	1	812	57	23	NM_024516	0	0	22	46	24	A2ICR6	Missense_Mutation	SNP	ENST00000320330.6	37	CCDS10655.1	.	.	.	.	.	.	.	.	.	.	T	15.55	2.866105	0.51588	.	.	ENSG00000185928	ENST00000320330	.	.	.	5.37	-1.19	0.09585	.	0.107341	0.64402	D	0.000009	T	0.19604	0.0471	L	0.29908	0.895	0.29748	N	0.83656	P	0.35507	0.506	B	0.35470	0.203	T	0.17501	-1.0367	9	0.24483	T	0.36	-19.3855	6.0324	0.19686	0.1374:0.4608:0.0:0.4018	.	35	Q9BTK6	PA1_HUMAN	E	35	.	ENSP00000326519:D35E	D	+	3	2	C16orf53	29735452	0.000000	0.05858	0.978000	0.43139	0.142000	0.21351	-0.529000	0.06186	-0.184000	0.10567	0.482000	0.46254	GAT	.		0.711	PAGR1-002	PUTATIVE	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000473165.1	NM_024516	
TAOK2	9344	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	29994580	29994580	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:29994580C>T	ENST00000308893.4	+	12	2230	c.1187C>T	c.(1186-1188)gCc>gTc	p.A396V	TAOK2_ENST00000279394.3_Missense_Mutation_p.A396V|TAOK2_ENST00000416441.2_Missense_Mutation_p.A223V|TAOK2_ENST00000543033.1_Missense_Mutation_p.A396V	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	396	Glu-rich.				actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GGCCCTGAAGCCCGGGAGATG	0.617																																					p.A396V		.											.	TAOK2-521	0			c.C1187T						.						46.0	42.0	43.0					16																	29994580		2197	4300	6497	SO:0001583	missense	9344	exon12			CTGAAGCCCGGGA	AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.1187C>T	16.37:g.29994580C>T	ENSP00000310094:p.Ala396Val	49	0		45	19	NM_004783	0	0	24	47	23	A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Missense_Mutation	SNP	ENST00000308893.4	37	CCDS10663.1	.	.	.	.	.	.	.	.	.	.	C	12.06	1.825369	0.32237	.	.	ENSG00000149930	ENST00000416441;ENST00000308893;ENST00000543033;ENST00000279394	T;T;T	0.71341	-0.56;-0.51;-0.52	5.24	5.24	0.73138	.	0.204155	0.43579	D	0.000551	T	0.55625	0.1932	N	0.14661	0.345	0.29891	N	0.825189	B;B;P;B;B	0.36392	0.183;0.328;0.551;0.018;0.005	B;B;B;B;B	0.38683	0.058;0.079;0.279;0.02;0.017	T	0.55909	-0.8066	9	.	.	.	.	14.3421	0.66633	0.0:1.0:0.0:0.0	.	587;223;396;396;396	Q86V37;Q9UL54-3;Q9UL54-2;A0PJ48;Q9UL54	.;.;.;.;TAOK2_HUMAN	V	396	ENSP00000310094:A396V;ENSP00000440336:A396V;ENSP00000279394:A396V	.	A	+	2	0	TAOK2	29902081	1.000000	0.71417	1.000000	0.80357	0.148000	0.21650	3.549000	0.53681	2.454000	0.82982	0.563000	0.77884	GCC	.		0.617	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	NM_016151	
TAOK2	9344	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	29994973	29994973	+	Silent	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:29994973A>G	ENST00000308893.4	+	13	2453	c.1410A>G	c.(1408-1410)cgA>cgG	p.R470R	TAOK2_ENST00000279394.3_Silent_p.R470R|TAOK2_ENST00000416441.2_Silent_p.R297R|TAOK2_ENST00000543033.1_Silent_p.R470R	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	470					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CCACCATCCGAACCGCCTCCC	0.592																																					p.R470R		.											.	TAOK2-521	0			c.A1410G						.						139.0	152.0	148.0					16																	29994973		2197	4300	6497	SO:0001819	synonymous_variant	9344	exon13			CATCCGAACCGCC	AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.1410A>G	16.37:g.29994973A>G		55	0		57	27	NM_004783	0	0	0	0	0	A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Silent	SNP	ENST00000308893.4	37	CCDS10663.1																																																																																			.		0.592	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	NM_016151	
HIRIP3	8479	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	30002105	30002105	+	IGR	SNP	C	C	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:30002105C>A	ENST00000279392.3	-	0	3385				TAOK2_ENST00000279394.3_Splice_Site_p.L816M	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3						chromatin assembly or disassembly (GO:0006333)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						TCTTCCCCAGCTGCGGCTTGA	0.587																																					p.L816M		.											.	TAOK2-521	0			c.C2446A						.						38.0	44.0	42.0					16																	30002105		2196	4295	6491	SO:0001628	intergenic_variant	9344	exon18			CCCCAGCTGCGGC	AJ223351	CCDS10664.1, CCDS58449.1	16p12.1	2008-02-05	2001-11-29		ENSG00000149929	ENSG00000149929			4917	protein-coding gene	gene with protein product		603365	"""HIRA-interacting protein 3"""			9710638	Standard	NM_003609		Approved		uc002dve.3	Q9BW71	OTTHUMG00000132118		16.37:g.30002105C>A		41	1		22	10	NM_004783	0	0	2	2	0	H3BSR3|O75707|O75708	Missense_Mutation	SNP	ENST00000279392.3	37	CCDS10664.1	.	.	.	.	.	.	.	.	.	.	C	12.31	1.898348	0.33535	.	.	ENSG00000149930	ENST00000279394	T	0.72835	-0.69	4.87	2.86	0.33363	.	.	.	.	.	T	0.80276	0.4593	M	0.82056	2.57	0.80722	D	1	D	0.65815	0.995	D	0.70016	0.967	T	0.77482	-0.2571	8	.	.	.	.	5.2543	0.15539	0.1652:0.6626:0.0:0.1721	.	816	Q9UL54-2	.	M	816	ENSP00000279394:L816M	.	L	+	1	2	TAOK2	29909606	1.000000	0.71417	1.000000	0.80357	0.454000	0.32378	3.866000	0.56040	0.617000	0.30160	0.563000	0.77884	CTG	.		0.587	HIRIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255160.2	NM_003609	
HIRIP3	8479	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	30002194	30002194	+	IGR	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:30002194C>T	ENST00000279392.3	-	0	3385				TAOK2_ENST00000279394.3_Silent_p.S845S	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3						chromatin assembly or disassembly (GO:0006333)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						CTTACCAGAGCAAGATCAAGA	0.637																																					p.S845S		.											.	TAOK2-521	0			c.C2535T						.						53.0	57.0	56.0					16																	30002194		2197	4300	6497	SO:0001628	intergenic_variant	9344	exon18			CCAGAGCAAGATC	AJ223351	CCDS10664.1, CCDS58449.1	16p12.1	2008-02-05	2001-11-29		ENSG00000149929	ENSG00000149929			4917	protein-coding gene	gene with protein product		603365	"""HIRA-interacting protein 3"""			9710638	Standard	NM_003609		Approved		uc002dve.3	Q9BW71	OTTHUMG00000132118		16.37:g.30002194C>T		71	0		71	28	NM_004783	0	0	22	40	18	H3BSR3|O75707|O75708	Silent	SNP	ENST00000279392.3	37	CCDS10664.1																																																																																			.		0.637	HIRIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255160.2	NM_003609	
HIRIP3	8479	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	30002536	30002536	+	IGR	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:30002536C>T	ENST00000279392.3	-	0	3385				TAOK2_ENST00000279394.3_Missense_Mutation_p.P933S	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3						chromatin assembly or disassembly (GO:0006333)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						CCAGGGCTATCCTGCTCCACC	0.692																																					p.P933S		.											.	TAOK2-521	0			c.C2797T						.						48.0	50.0	49.0					16																	30002536		2197	4300	6497	SO:0001628	intergenic_variant	9344	exon19			GGCTATCCTGCTC	AJ223351	CCDS10664.1, CCDS58449.1	16p12.1	2008-02-05	2001-11-29		ENSG00000149929	ENSG00000149929			4917	protein-coding gene	gene with protein product		603365	"""HIRA-interacting protein 3"""			9710638	Standard	NM_003609		Approved		uc002dve.3	Q9BW71	OTTHUMG00000132118		16.37:g.30002536C>T		94	0		160	61	NM_004783	0	0	20	46	26	H3BSR3|O75707|O75708	Missense_Mutation	SNP	ENST00000279392.3	37	CCDS10664.1	.	.	.	.	.	.	.	.	.	.	c	9.923	1.212593	0.22289	.	.	ENSG00000149930	ENST00000279394	T	0.73469	-0.75	5.0	5.0	0.66597	.	.	.	.	.	T	0.58722	0.2142	N	0.20685	0.6	0.80722	D	1	B	0.19331	0.035	B	0.18871	0.023	T	0.54146	-0.8337	8	.	.	.	.	12.8056	0.57612	0.1644:0.8356:0.0:0.0	.	933	Q9UL54-2	.	S	933	ENSP00000279394:P933S	.	P	+	1	0	TAOK2	29910037	1.000000	0.71417	0.963000	0.40424	0.492000	0.33523	2.953000	0.49105	2.324000	0.78689	0.645000	0.84053	CCT	.		0.692	HIRIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255160.2	NM_003609	
HIRIP3	8479	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	16	30002651	30002651	+	IGR	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:30002651C>T	ENST00000279392.3	-	0	3385				TAOK2_ENST00000279394.3_Missense_Mutation_p.S971F	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3						chromatin assembly or disassembly (GO:0006333)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						CGTCAGCCGTCTCTGCTGGCT	0.711																																					p.S971F		.											.	TAOK2-521	0			c.C2912T						.						13.0	16.0	15.0					16																	30002651		2180	4248	6428	SO:0001628	intergenic_variant	9344	exon19			AGCCGTCTCTGCT	AJ223351	CCDS10664.1, CCDS58449.1	16p12.1	2008-02-05	2001-11-29		ENSG00000149929	ENSG00000149929			4917	protein-coding gene	gene with protein product		603365	"""HIRA-interacting protein 3"""			9710638	Standard	NM_003609		Approved		uc002dve.3	Q9BW71	OTTHUMG00000132118		16.37:g.30002651C>T		45	0		102	45	NM_004783	0	0	17	39	22	H3BSR3|O75707|O75708	Missense_Mutation	SNP	ENST00000279392.3	37	CCDS10664.1	.	.	.	.	.	.	.	.	.	.	c	13.04	2.118878	0.37436	.	.	ENSG00000149930	ENST00000279394	T	0.70631	-0.5	4.83	4.83	0.62350	.	.	.	.	.	T	0.50854	0.1640	N	0.08118	0	0.80722	D	1	B	0.12630	0.006	B	0.04013	0.001	T	0.46541	-0.9184	8	.	.	.	.	16.7132	0.85391	0.0:1.0:0.0:0.0	.	971	Q9UL54-2	.	F	971	ENSP00000279394:S971F	.	S	+	2	0	TAOK2	29910152	.	.	0.922000	0.36590	0.967000	0.64934	.	.	2.230000	0.72887	0.645000	0.84053	TCT	.		0.711	HIRIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255160.2	NM_003609	
TBC1D10B	26000	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	30369775	30369775	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:30369775G>A	ENST00000409939.3	-	9	1997	c.1917C>T	c.(1915-1917)tcC>tcT	p.S639S	RP11-347C12.10_ENST00000563252.1_lincRNA	NM_015527.3	NP_056342.3	Q4KMP7	TB10B_HUMAN	TBC1 domain family, member 10B	639					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab GTPase activity (GO:0032313)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			endometrium(2)|kidney(1)|lung(2)|urinary_tract(1)	6			Colorectal(24;0.193)			GGATGGCCCGGGACCCATGCA	0.692																																					p.S639S		.											.	.	0			c.C1917T						.						14.0	15.0	14.0					16																	30369775		2192	4290	6482	SO:0001819	synonymous_variant	26000	exon9			GGCCCGGGACCCA	BC063112	CCDS10676.2	16p11.2	2013-07-09			ENSG00000169221	ENSG00000169221			24510	protein-coding gene	gene with protein product		613620				20404108	Standard	NM_015527		Approved	DKFZP434P1750, Rab27A-GAPbeta, FLJ13130, EPI64B	uc002dxt.3	Q4KMP7	OTTHUMG00000132396	ENST00000409939.3:c.1917C>T	16.37:g.30369775G>A		45	0		94	45	NM_015527	0	0	27	56	29	B9A6L0|Q6IN54|Q6P530|Q71RG7|Q86VC5|Q9H8Z2|Q9NUN6|Q9UFP2	Silent	SNP	ENST00000409939.3	37	CCDS10676.2																																																																																			.		0.692	TBC1D10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255527.3	NM_015527	
ZNF771	51333	hgsc.bcm.edu	37	16	30429083	30429083	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:30429083C>T	ENST00000319296.5	+	3	726	c.349C>T	c.(349-351)Cgg>Tgg	p.R117W	ZNF771_ENST00000566625.1_Intron|ZNF771_ENST00000434417.1_Missense_Mutation_p.R117W|SNORA42_ENST00000362917.1_RNA			Q7L3S4	ZN771_HUMAN	zinc finger protein 771	117					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)							Colorectal(24;0.193)			CACGGGCGAGCGGCCCTACGA	0.716																																					p.R117W		.											.	.	0			c.C349T						.						3.0	3.0	3.0					16																	30429083		1627	3523	5150	SO:0001583	missense	51333	exon3			GGCGAGCGGCCCT	BC026192	CCDS45460.1	16p11.2	2013-01-08				ENSG00000179965		"""Zinc fingers, C2H2-type"""	29653	protein-coding gene	gene with protein product						12477932	Standard	NM_016643		Approved	DSC43	uc010ver.2	Q7L3S4		ENST00000319296.5:c.349C>T	16.37:g.30429083C>T	ENSP00000323945:p.Arg117Trp	0	0		7	5	NM_001142305	0	0	2	3	1	Q8TAQ7|Q9NYI6	Missense_Mutation	SNP	ENST00000319296.5	37	CCDS45460.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.196014	0.78902	.	.	ENSG00000179965	ENST00000434417;ENST00000319296	T;T	0.20332	2.08;2.08	5.17	5.17	0.71159	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.38778	N	0.001568	T	0.46678	0.1405	M	0.82517	2.595	0.34619	D	0.718398	D	0.89917	1.0	D	0.81914	0.995	T	0.63642	-0.6591	10	0.87932	D	0	-13.1658	9.7239	0.40320	0.0:0.905:0.0:0.095	.	117	Q7L3S4	ZN771_HUMAN	W	117	ENSP00000416197:R117W;ENSP00000323945:R117W	ENSP00000323945:R117W	R	+	1	2	ZNF771	30336584	0.000000	0.05858	1.000000	0.80357	0.961000	0.63080	-0.376000	0.07465	2.413000	0.81919	0.491000	0.48974	CGG	.		0.716	ZNF771-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434612.2	NM_016643	
ZNF785	146540	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	30594019	30594019	+	Nonsense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:30594019C>T	ENST00000395216.2	-	3	1239	c.1080G>A	c.(1078-1080)tgG>tgA	p.W360*	ZNF785_ENST00000470110.1_Nonsense_Mutation_p.W345*|AC002310.7_ENST00000492040.1_RNA|AC002310.7_ENST00000486926.1_RNA	NM_152458.6	NP_689671.2	A8K8V0	ZN785_HUMAN	zinc finger protein 785	360					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)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9						AGCGGTGGATCCACCGATGGG	0.657																																					p.W360X		.											.	ZNF785-91	0			c.G1080A						.						55.0	60.0	58.0					16																	30594019		2197	4300	6497	SO:0001587	stop_gained	146540	exon3			GTGGATCCACCGA	BC040642	CCDS10685.1	16p11.2	2013-01-08			ENSG00000197162	ENSG00000197162		"""Zinc fingers, C2H2-type"", ""-"""	26496	protein-coding gene	gene with protein product						10493829	Standard	NM_152458		Approved	FLJ32130	uc002dyu.3	A8K8V0	OTTHUMG00000132398	ENST00000395216.2:c.1080G>A	16.37:g.30594019C>T	ENSP00000378642:p.Trp360*	77	0		102	40	NM_152458	0	0	0	8	8	O75701|Q8IW91|Q8WV14|Q96MN0	Nonsense_Mutation	SNP	ENST00000395216.2	37	CCDS10685.1	.	.	.	.	.	.	.	.	.	.	c	37	6.508169	0.97624	.	.	ENSG00000197162	ENST00000470110;ENST00000395222;ENST00000395216	.	.	.	4.25	3.28	0.37604	.	.	.	.	.	.	.	.	.	.	.	0.53005	D	0.999966	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	5.1011	0.14760	0.2087:0.6857:0.0:0.1055	.	.	.	.	X	345;325;360	.	ENSP00000378642:W360X	W	-	3	0	ZNF785	30501520	0.000000	0.05858	0.300000	0.25030	0.877000	0.50540	-1.308000	0.02730	0.998000	0.38996	0.644000	0.83932	TGG	.		0.657	ZNF785-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255529.2	NM_152458	
SRCAP	10847	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	30745920	30745920	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:30745920C>T	ENST00000262518.4	+	31	7098	c.6713C>T	c.(6712-6714)aCt>aTt	p.T2238I	SRCAP_ENST00000395059.2_Missense_Mutation_p.T2176I|SRCAP_ENST00000344771.4_Missense_Mutation_p.T2080I	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2238	Glu-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			AGCAAGCAGACTCATATTCTG	0.483																																					p.T2238I		.											.	SRCAP-94	0			c.C6713T						.						109.0	103.0	105.0					16																	30745920		2197	4300	6497	SO:0001583	missense	10847	exon31			AGCAGACTCATAT	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.6713C>T	16.37:g.30745920C>T	ENSP00000262518:p.Thr2238Ile	171	0		204	87	NM_006662	0	0	8	16	8	B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	C	16.16	3.044257	0.55110	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	T;T;T	0.08193	3.12;3.12;3.12	6.04	6.04	0.98038	.	0.225343	0.31507	N	0.007537	T	0.14657	0.0354	N	0.05078	-0.115	0.47905	D	0.999548	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.996	T	0.38200	-0.9672	10	0.52906	T	0.07	-15.7202	19.3663	0.94464	0.0:1.0:0.0:0.0	.	2176;2238	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	I	2238;2176;2080	ENSP00000262518:T2238I;ENSP00000378499:T2176I;ENSP00000343042:T2080I	ENSP00000262518:T2238I	T	+	2	0	SRCAP	30653421	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.998000	0.76277	2.873000	0.98535	0.563000	0.77884	ACT	.		0.483	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662	
ORAI3	93129	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	30964661	30964661	+	Silent	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:30964661C>T	ENST00000318663.4	+	2	608	c.384C>T	c.(382-384)aaC>aaT	p.N128N	AC135048.13_ENST00000566056.1_RNA|ORAI3_ENST00000566237.1_Silent_p.N128N|ORAI3_ENST00000562699.1_Intron	NM_152288.2	NP_689501.1	Q9BRQ5	ORAI3_HUMAN	ORAI calcium release-activated calcium modulator 3	128					store-operated calcium entry (GO:0002115)	integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6						CTGTGAGCAACATCCACAACC	0.602											OREG0023742	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.N128N		.											.	ORAI3-68	0			c.C384T						.						111.0	105.0	107.0					16																	30964661		2197	4300	6497	SO:0001819	synonymous_variant	93129	exon2			GAGCAACATCCAC	BC006126	CCDS10697.1	16p11.2	2007-08-14	2007-08-14	2007-08-14	ENSG00000175938	ENSG00000175938		"""ORAI calcium release-activated calcium modulators"""	28185	protein-coding gene	gene with protein product		610930	"""transmembrane protein 142C"""	TMEM142C		16582901	Standard	NM_152288		Approved	MGC13024	uc002eac.3	Q9BRQ5	OTTHUMG00000132409	ENST00000318663.4:c.384C>T	16.37:g.30964661C>T		172	0	821	199	70	NM_152288	0	0	55	74	19	Q96BI8	Silent	SNP	ENST00000318663.4	37	CCDS10697.1																																																																																			.		0.602	ORAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255545.20	NM_152288	
SETD1A	9739	bcgsc.ca	37	16	30990658	30990658	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:30990658C>T	ENST00000262519.8	+	14	4237	c.3551C>T	c.(3550-3552)gCc>gTc	p.A1184V		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1184	Pro-rich. {ECO:0000255}.				histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CCCCCTCCAGCCACACCGCCG	0.692																																					p.A1184V		.											.	SETD1A-93	0			c.C3551T						.						16.0	21.0	19.0					16																	30990658		2178	4264	6442	SO:0001583	missense	9739	exon14			CTCCAGCCACACC	AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.3551C>T	16.37:g.30990658C>T	ENSP00000262519:p.Ala1184Val	38	1		148	71	NM_014712	0	0	9	19	10	A6NP62|Q6PIF3|Q8TAJ6	Missense_Mutation	SNP	ENST00000262519.8	37	CCDS32435.1	.	.	.	.	.	.	.	.	.	.	C	4.422	0.078099	0.08485	.	.	ENSG00000099381	ENST00000262519	D	0.94184	-3.37	5.03	3.03	0.35002	.	0.386521	0.24187	N	0.040749	T	0.81702	0.4878	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.64824	-0.6316	10	0.06494	T	0.89	.	6.8105	0.23802	0.0:0.6943:0.0:0.3057	.	1184	O15047	SET1A_HUMAN	V	1184	ENSP00000262519:A1184V	ENSP00000262519:A1184V	A	+	2	0	SETD1A	30898159	0.029000	0.19370	0.028000	0.17463	0.005000	0.04900	1.039000	0.30266	0.483000	0.27608	0.557000	0.71058	GCC	.		0.692	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712	
ZNF668	79759	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	31072498	31072498	+	Missense_Mutation	SNP	G	G	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:31072498G>C	ENST00000538906.1	-	3	2535	c.1751C>G	c.(1750-1752)gCc>gGc	p.A584G	ZNF668_ENST00000426488.2_Missense_Mutation_p.A607G|ZNF668_ENST00000535577.1_Missense_Mutation_p.A584G|ZNF668_ENST00000300849.4_Missense_Mutation_p.A584G|ZNF668_ENST00000417110.2_5'Flank|ZNF668_ENST00000539836.3_Missense_Mutation_p.A607G|ZNF668_ENST00000394983.2_Missense_Mutation_p.A584G	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	584					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(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						CAAGTCGCTGGCACTCAAGAA	0.637																																					p.A607G	Colon(181;1111 1980 5060 10512 25785)	.											.	ZNF668-585	0			c.C1820G						.						62.0	64.0	64.0					16																	31072498		2197	4300	6497	SO:0001583	missense	79759	exon4			TCGCTGGCACTCA		CCDS10701.1, CCDS54003.1	16p11.2	2013-01-08			ENSG00000167394	ENSG00000167394		"""Zinc fingers, C2H2-type"""	25821	protein-coding gene	gene with protein product						12477932	Standard	NM_024706		Approved	FLJ13479	uc021tgt.1	Q96K58	OTTHUMG00000047357	ENST00000538906.1:c.1751C>G	16.37:g.31072498G>C	ENSP00000440149:p.Ala584Gly	93	0		155	64	NM_001172669	0	0	13	16	3	C9JHH8|F5H7E7|Q59EV1|Q8N669|Q9H8L4	Missense_Mutation	SNP	ENST00000538906.1	37	CCDS10701.1	.	.	.	.	.	.	.	.	.	.	G	16.09	3.023194	0.54683	.	.	ENSG00000167394	ENST00000539836;ENST00000535577;ENST00000538906;ENST00000394983;ENST00000300849	T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59	4.93	4.93	0.64822	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000001	T	0.25754	0.0627	N	0.14661	0.345	0.46954	D	0.999264	D	0.56968	0.978	P	0.50617	0.646	T	0.01621	-1.1310	10	0.28530	T	0.3	-22.282	12.8872	0.58051	0.0:0.164:0.836:0.0	.	584	Q96K58	ZN668_HUMAN	G	607;584;584;584;584	ENSP00000442573:A607G;ENSP00000441349:A584G;ENSP00000440149:A584G;ENSP00000378434:A584G;ENSP00000300849:A584G	ENSP00000300849:A584G	A	-	2	0	ZNF668	30979999	0.877000	0.30153	1.000000	0.80357	0.985000	0.73830	3.882000	0.56160	2.581000	0.87130	0.561000	0.74099	GCC	.		0.637	ZNF668-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108516.2	NM_024706	
ITGAX	3687	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	31371245	31371245	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:31371245C>T	ENST00000268296.4	+	7	687	c.566C>T	c.(565-567)tCc>tTc	p.S189F	ITGAX_ENST00000562522.1_Missense_Mutation_p.S189F	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	189	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				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						TCCCAGTTTTCCCTGATGCAG	0.572																																					p.S189F		.											.	ITGAX-229	0			c.C566T						.						89.0	92.0	91.0					16																	31371245		2197	4300	6497	SO:0001583	missense	3687	exon7			AGTTTTCCCTGAT	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.566C>T	16.37:g.31371245C>T	ENSP00000268296:p.Ser189Phe	65	0		81	40	NM_000887	0	0	0	0	0	Q8IVA6	Missense_Mutation	SNP	ENST00000268296.4	37	CCDS10711.1	.	.	.	.	.	.	.	.	.	.	C	17.24	3.338953	0.60963	.	.	ENSG00000140678	ENST00000268296	T	0.80214	-1.35	4.88	3.93	0.45458	von Willebrand factor, type A (3);	.	.	.	.	D	0.90487	0.7020	M	0.90977	3.165	0.36757	D	0.883073	D	0.89917	1.0	D	0.79108	0.992	D	0.93171	0.6566	9	0.87932	D	0	.	10.8743	0.46902	0.0:0.909:0.0:0.091	.	189	P20702	ITAX_HUMAN	F	189	ENSP00000268296:S189F	ENSP00000268296:S189F	S	+	2	0	ITGAX	31278746	0.880000	0.30214	0.857000	0.33713	0.656000	0.38851	3.775000	0.55349	1.170000	0.42753	0.467000	0.42956	TCC	.		0.572	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887	
ARMC5	79798	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	16	31471222	31471222	+	Missense_Mutation	SNP	G	G	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:31471222G>T	ENST00000563544.1	+	2	923	c.377G>T	c.(376-378)cGc>cTc	p.R126L	ARMC5_ENST00000412665.2_5'Flank|ARMC5_ENST00000268314.4_Missense_Mutation_p.R126L|ARMC5_ENST00000538189.1_Missense_Mutation_p.R158L|ARMC5_ENST00000457010.2_Missense_Mutation_p.R126L|RP11-452L6.5_ENST00000564629.1_RNA|ARMC5_ENST00000408912.3_Missense_Mutation_p.R221L			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	126										central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GTGCGCCTGCGCAAGACGCTG	0.697																																					p.R126L		.											.	ARMC5-24	0			c.G377T						.						28.0	29.0	28.0					16																	31471222		1955	4128	6083	SO:0001583	missense	79798	exon1			GCCTGCGCAAGAC	AY217348	CCDS42155.1, CCDS45472.1, CCDS73874.1	16p11	2013-02-14			ENSG00000140691	ENSG00000140691		"""Armadillo repeat containing"""	25781	protein-coding gene	gene with protein product		615549					Standard	NM_024742		Approved	FLJ13063	uc002ecc.3	Q96C12	OTTHUMG00000176618	ENST00000563544.1:c.377G>T	16.37:g.31471222G>T	ENSP00000456877:p.Arg126Leu	31	0		53	24	NM_024742	0	0	2	2	0	Q86WM9|Q9H7P8|Q9H925	Missense_Mutation	SNP	ENST00000563544.1	37	CCDS45472.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.183847	0.78677	.	.	ENSG00000140691	ENST00000408912;ENST00000538189;ENST00000268314;ENST00000457010	T;T;T;T	0.60672	0.17;0.17;0.17;0.17	4.67	4.67	0.58626	Armadillo-like helical (1);Armadillo-type fold (1);	.	.	.	.	T	0.67618	0.2912	L	0.55481	1.735	0.80722	D	1	D;D;D;D;D	0.76494	0.996;0.996;0.996;0.996;0.999	P;P;P;P;D	0.67900	0.818;0.87;0.87;0.87;0.954	T	0.63717	-0.6574	9	0.28530	T	0.3	-4.4735	12.9292	0.58276	0.0:0.0:1.0:0.0	.	158;158;221;126;126	B4DH27;F5H156;B4DIU9;Q96C12;Q96C12-4	.;.;.;ARMC5_HUMAN;.	L	221;158;126;126	ENSP00000386125:R221L;ENSP00000443995:R158L;ENSP00000268314:R126L;ENSP00000399561:R126L	ENSP00000268314:R126L	R	+	2	0	ARMC5	31378723	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.456000	0.44997	2.435000	0.82474	0.561000	0.74099	CGC	.		0.697	ARMC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432847.1	NM_024742	
ARMC5	79798	broad.mit.edu	37	16	31477963	31477963	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:31477963C>T	ENST00000563544.1	+	7	3107	c.2561C>T	c.(2560-2562)gCc>gTc	p.A854V	ARMC5_ENST00000412665.2_Missense_Mutation_p.A498V|ARMC5_ENST00000268314.4_Missense_Mutation_p.A854V|ARMC5_ENST00000538189.1_Missense_Mutation_p.A886V|ARMC5_ENST00000457010.2_3'UTR|ARMC5_ENST00000408912.3_Missense_Mutation_p.A949V			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	854										central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CTGGAAGAGGCCGTGGGCCGC	0.726																																					p.A854V		.											.	ARMC5-24	0			c.C2561T						.						14.0	23.0	20.0					16																	31477963		2165	4272	6437	SO:0001583	missense	79798	exon6			AAGAGGCCGTGGG	AY217348	CCDS42155.1, CCDS45472.1, CCDS73874.1	16p11	2013-02-14			ENSG00000140691	ENSG00000140691		"""Armadillo repeat containing"""	25781	protein-coding gene	gene with protein product		615549					Standard	NM_024742		Approved	FLJ13063	uc002ecc.3	Q96C12	OTTHUMG00000176618	ENST00000563544.1:c.2561C>T	16.37:g.31477963C>T	ENSP00000456877:p.Ala854Val	53	1		197	8	NM_001105247	0	0	12	12	0	Q86WM9|Q9H7P8|Q9H925	Missense_Mutation	SNP	ENST00000563544.1	37	CCDS45472.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.289619	0.80914	.	.	ENSG00000140691	ENST00000408912;ENST00000538189;ENST00000268314;ENST00000412665	T;T;T;T	0.43294	2.23;2.26;2.28;0.95	5.07	5.07	0.68467	.	0.239914	0.36555	N	0.002538	T	0.41488	0.1161	N	0.14661	0.345	0.45015	D	0.998033	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.14980	-1.0453	10	0.05620	T	0.96	-12.0534	13.8303	0.63377	0.0:1.0:0.0:0.0	.	886;886;949;854	B4DH27;F5H156;B4DIU9;Q96C12	.;.;.;ARMC5_HUMAN	V	949;886;854;498	ENSP00000386125:A949V;ENSP00000443995:A886V;ENSP00000268314:A854V;ENSP00000400183:A498V	ENSP00000268314:A854V	A	+	2	0	ARMC5	31385464	0.973000	0.33851	0.991000	0.47740	0.934000	0.57294	3.054000	0.49908	2.636000	0.89361	0.448000	0.29417	GCC	.		0.726	ARMC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432847.1	NM_024742	
PHKB	5257	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	47581450	47581450	+	Missense_Mutation	SNP	T	T	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:47581450T>G	ENST00000323584.5	+	7	725	c.701T>G	c.(700-702)cTa>cGa	p.L234R	PHKB_ENST00000566044.1_Missense_Mutation_p.L227R|PHKB_ENST00000455779.1_Missense_Mutation_p.L227R|PHKB_ENST00000299167.8_Missense_Mutation_p.L234R|PHKB_ENST00000567402.1_3'UTR	NM_000293.2	NP_000284.1	Q93100	KPBB_HUMAN	phosphorylase kinase, beta	234					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				AGCACAGAGCTACATTCGAGG	0.338																																					p.L234R		.											.	PHKB-154	0			c.T701G						.						91.0	87.0	88.0					16																	47581450		2201	4300	6501	SO:0001583	missense	5257	exon7			CAGAGCTACATTC		CCDS10729.1, CCDS42161.1	16q12-q13	2009-07-10			ENSG00000102893	ENSG00000102893	2.7.11.19		8927	protein-coding gene	gene with protein product		172490					Standard	NM_000293		Approved		uc002eev.4	Q93100	OTTHUMG00000133102	ENST00000323584.5:c.701T>G	16.37:g.47581450T>G	ENSP00000313504:p.Leu234Arg	59	0		66	29	NM_000293	0	0	0	0	0	Q8N4T5	Missense_Mutation	SNP	ENST00000323584.5	37	CCDS10729.1	.	.	.	.	.	.	.	.	.	.	T	29.2	4.984223	0.93044	.	.	ENSG00000102893	ENST00000299167;ENST00000455779;ENST00000323584	D;D	0.90676	-2.71;-2.71	6.07	6.07	0.98685	Six-hairpin glycosidase-like (1);Glycoside hydrolase 15-related (1);	0.068257	0.64402	D	0.000012	D	0.94456	0.8216	M	0.67517	2.055	0.80722	D	1	D;P;D	0.76494	0.999;0.929;0.991	D;P;D	0.75020	0.985;0.838;0.921	D	0.94023	0.7294	10	0.45353	T	0.12	-15.403	16.3021	0.82825	0.0:0.0:0.0:1.0	.	227;234;227	B4DQ16;Q93100;Q93100-4	.;KPBB_HUMAN;.	R	227;227;234	ENSP00000414345:L227R;ENSP00000313504:L234R	ENSP00000299167:L227R	L	+	2	0	PHKB	46138951	1.000000	0.71417	0.986000	0.45419	0.979000	0.70002	7.730000	0.84881	2.326000	0.78906	0.533000	0.62120	CTA	.		0.338	PHKB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000430413.1		
BRD7	29117	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	50368679	50368679	+	Missense_Mutation	SNP	T	T	C	rs145896392		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:50368679T>C	ENST00000394688.3	-	7	989	c.830A>G	c.(829-831)gAg>gGg	p.E277G	BRD7_ENST00000394689.2_Missense_Mutation_p.E277G			Q9NPI1	BRD7_HUMAN	bromodomain containing 7	277					cell cycle (GO:0007049)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				TCCAGAGTCCTCTCTCTCTCT	0.468																																					p.E277G		.											.	BRD7-90	0			c.A830G						.						138.0	139.0	138.0					16																	50368679		2198	4300	6498	SO:0001583	missense	29117	exon7			GAGTCCTCTCTCT	AF213969	CCDS10742.1, CCDS54007.1	16q12.1	2008-11-18	2002-01-14		ENSG00000166164	ENSG00000166164			14310	protein-coding gene	gene with protein product			"""bromodomain-containing 7"""			10526152, 18809673	Standard	NM_013263		Approved	CELTIX1, BP75	uc002ege.2	Q9NPI1	OTTHUMG00000133170	ENST00000394688.3:c.830A>G	16.37:g.50368679T>C	ENSP00000378180:p.Glu277Gly	66	1		61	25	NM_013263	0	0	50	74	24	Q4VC09|Q8N2L9|Q96KA4|Q9BV48|Q9UH59	Missense_Mutation	SNP	ENST00000394688.3	37	CCDS10742.1	.	.	.	.	.	.	.	.	.	.	T	10.30	1.311223	0.23821	.	.	ENSG00000166164	ENST00000394688;ENST00000394689	T;T	0.34275	1.37;1.37	5.47	4.39	0.52855	.	0.672603	0.16904	N	0.194766	T	0.20780	0.0500	N	0.19112	0.55	0.19300	N	0.999978	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.13899	-1.0492	10	0.36615	T	0.2	-5.3889	4.5175	0.11943	0.0:0.1766:0.1681:0.6553	.	277;277	Q9NPI1;Q9NPI1-2	BRD7_HUMAN;.	G	277	ENSP00000378180:E277G;ENSP00000378181:E277G	ENSP00000378180:E277G	E	-	2	0	BRD7	48926180	0.983000	0.35010	0.224000	0.23877	0.729000	0.41735	1.895000	0.39778	1.029000	0.39812	0.528000	0.53228	GAG	.		0.468	BRD7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256874.3	NM_013263	
NLRC5	84166	broad.mit.edu;bcgsc.ca;mdanderson.org	37	16	57060004	57060004	+	Silent	SNP	G	G	A	rs528088895		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:57060004G>A	ENST00000262510.6	+	6	1374	c.1149G>A	c.(1147-1149)caG>caA	p.Q383Q	NLRC5_ENST00000436936.1_Silent_p.Q383Q|NLRC5_ENST00000308149.7_Silent_p.Q383Q|NLRC5_ENST00000539144.1_Silent_p.Q383Q	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	383	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				TCAGCGCCCAGCCATCGCGGG	0.617													G|||	1	0.000199681	0.0	0.0	5008	,	,		20166	0.001		0.0	False		,,,				2504	0.0				p.Q383Q		.											.	NLRC5-159	0			c.G1149A						.						99.0	108.0	105.0					16																	57060004		2198	4300	6498	SO:0001819	synonymous_variant	84166	exon5			CGCCCAGCCATCG	AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.1149G>A	16.37:g.57060004G>A		51	1		31	27	NM_032206	0	0	0	4	4	B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Silent	SNP	ENST00000262510.6	37	CCDS10773.1	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.606475	0.00842	.	.	ENSG00000140853	ENST00000538805	.	.	.	4.69	-0.275	0.12906	.	.	.	.	.	T	0.23846	0.0577	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.26430	-1.0103	4	.	.	.	.	4.7504	0.13057	0.0806:0.1039:0.2405:0.575	.	.	.	.	T	136	.	.	A	+	1	0	NLRC5	55617505	0.001000	0.12720	0.000000	0.03702	0.023000	0.10783	0.588000	0.23924	-0.111000	0.12001	0.561000	0.74099	GCC	.		0.617	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206	
NLRC5	84166	broad.mit.edu;bcgsc.ca;mdanderson.org	37	16	57060099	57060099	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:57060099G>A	ENST00000262510.6	+	6	1469	c.1244G>A	c.(1243-1245)tGc>tAc	p.C415Y	NLRC5_ENST00000436936.1_Missense_Mutation_p.C415Y|NLRC5_ENST00000308149.7_Missense_Mutation_p.C415Y|NLRC5_ENST00000539144.1_Missense_Mutation_p.C415Y	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	415	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				GCCTGTCTCTGCCTCCACCAT	0.642																																					p.C415Y		.											.	NLRC5-159	0			c.G1244A						.						83.0	85.0	84.0					16																	57060099		2198	4300	6498	SO:0001583	missense	84166	exon5			GTCTCTGCCTCCA	AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.1244G>A	16.37:g.57060099G>A	ENSP00000262510:p.Cys415Tyr	49	1		28	20	NM_032206	0	0	0	4	4	B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	ENST00000262510.6	37	CCDS10773.1	.	.	.	.	.	.	.	.	.	.	G	19.24	3.789545	0.70337	.	.	ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000436936;ENST00000539144	T;T;T;T	0.76060	-0.83;-0.84;-0.99;-0.84	5.21	5.21	0.72293	.	0.000000	0.37623	N	0.002019	D	0.87083	0.6089	M	0.81802	2.56	0.44611	D	0.997589	D;D;D;D	0.89917	1.0;1.0;0.998;0.994	D;D;D;D	0.97110	1.0;1.0;0.994;0.958	D	0.88841	0.3312	10	0.87932	D	0	.	17.7521	0.88438	0.0:0.0:1.0:0.0	.	415;415;415;415	Q86WI3-5;Q86WI3-4;Q86WI3-6;Q86WI3	.;.;.;NLRC5_HUMAN	Y	415	ENSP00000262510:C415Y;ENSP00000308886:C415Y;ENSP00000389739:C415Y;ENSP00000441727:C415Y	ENSP00000262510:C415Y	C	+	2	0	NLRC5	55617600	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	8.223000	0.89779	2.427000	0.82271	0.561000	0.74099	TGC	.		0.642	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206	
NLRC5	84166	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	57089359	57089359	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:57089359G>A	ENST00000262510.6	+	27	3899	c.3674G>A	c.(3673-3675)tGc>tAc	p.C1225Y	NLRC5_ENST00000436936.1_Missense_Mutation_p.C1225Y|NLRC5_ENST00000308149.7_Intron|NLRC5_ENST00000539144.1_Intron|RP11-322D14.2_ENST00000562970.1_RNA	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1225					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				TTCACAGGCTGCAGCCTCAGC	0.612																																					p.C1225Y		.											.	NLRC5-159	0			c.G3674A						.						69.0	58.0	62.0					16																	57089359		2198	4300	6498	SO:0001583	missense	84166	exon26			CAGGCTGCAGCCT	AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.3674G>A	16.37:g.57089359G>A	ENSP00000262510:p.Cys1225Tyr	138	1		103	87	NM_032206	0	0	2	4	2	B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	ENST00000262510.6	37	CCDS10773.1	.	.	.	.	.	.	.	.	.	.	G	11.48	1.650383	0.29336	.	.	ENSG00000140853	ENST00000262510;ENST00000436936;ENST00000327982;ENST00000538110;ENST00000543030	T;T;T;T	0.58210	0.35;0.35;0.35;0.35	4.7	3.72	0.42706	.	.	.	.	.	T	0.65739	0.2720	M	0.67953	2.075	0.09310	N	1	P;D;P	0.69078	0.911;0.997;0.765	B;D;B	0.65010	0.406;0.931;0.314	T	0.54159	-0.8335	9	0.66056	D	0.02	.	8.8929	0.35446	0.1048:0.0:0.8952:0.0	.	909;1225;1225	Q9H6Y0;Q86WI3-6;Q86WI3	.;.;NLRC5_HUMAN	Y	1225;1225;668;701;494	ENSP00000262510:C1225Y;ENSP00000389739:C1225Y;ENSP00000441597:C701Y;ENSP00000440153:C494Y	ENSP00000262510:C1225Y	C	+	2	0	NLRC5	55646860	0.577000	0.26708	0.466000	0.27168	0.336000	0.28762	2.648000	0.46647	2.417000	0.82017	0.591000	0.81541	TGC	.		0.612	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206	
CNGB1	1258	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	16	57993956	57993956	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:57993956G>A	ENST00000251102.8	-	10	657	c.597C>T	c.(595-597)cgC>cgT	p.R199R	CNGB1_ENST00000311183.4_Silent_p.R199R|CNGB1_ENST00000564448.1_Silent_p.R193R	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	199	Pro-rich.				cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						TTTCCTGGGGGCGTCCTGGAG	0.672																																					p.R199R	Colon(156;1293 1853 16336 28962 38659)	.											.	CNGB1-137	0			c.C597T						.						7.0	9.0	8.0					16																	57993956		1895	4068	5963	SO:0001819	synonymous_variant	1258	exon10			CTGGGGGCGTCCT	AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2151	protein-coding gene	gene with protein product	"""glutamic acid-rich protein"""	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.597C>T	16.37:g.57993956G>A		14	0		9	7	NM_001297	0	0	0	0	0	H3BN09|O43636|Q13059|Q14029|Q9UMG2	Silent	SNP	ENST00000251102.8	37	CCDS42169.1																																																																																			.		0.672	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2	NM_001297	
CDH16	1014	ucsc.edu;bcgsc.ca	37	16	66950187	66950187	+	Missense_Mutation	SNP	T	T	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:66950187T>A	ENST00000299752.4	-	4	468	c.275A>T	c.(274-276)tAc>tTc	p.Y92F	CDH16_ENST00000570262.1_Intron|CDH16_ENST00000394055.3_Missense_Mutation_p.Y92F|CDH16_ENST00000568632.1_Missense_Mutation_p.Y92F|CDH16_ENST00000565796.1_Missense_Mutation_p.Y92F	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	92	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		CTGTAGCTGGTACTCTGCCTG	0.622																																					p.Y92F		.											.	CDH16-93	0			c.A275T						.						73.0	65.0	68.0					16																	66950187		2200	4300	6500	SO:0001583	missense	1014	exon4			AGCTGGTACTCTG	AF016272	CCDS10823.1, CCDS56002.1, CCDS58471.1, CCDS58472.1	16q22.1	2010-01-26			ENSG00000166589	ENSG00000166589		"""Cadherins / Major cadherins"""	1755	protein-coding gene	gene with protein product		603118				9721215, 7615566	Standard	NM_004062		Approved		uc002eql.3	O75309	OTTHUMG00000137518	ENST00000299752.4:c.275A>T	16.37:g.66950187T>A	ENSP00000299752:p.Tyr92Phe	156	2		126	101	NM_004062	0	0	0	0	0	B4DPA8|H3BPD3|Q6UW93	Missense_Mutation	SNP	ENST00000299752.4	37	CCDS10823.1	.	.	.	.	.	.	.	.	.	.	T	13.41	2.229731	0.39399	.	.	ENSG00000166589	ENST00000394055;ENST00000299752	T;T	0.73152	-0.72;-0.72	4.63	4.63	0.57726	Cadherin (3);Cadherin-like (1);	0.000000	0.64402	D	0.000001	T	0.81365	0.4807	M	0.71871	2.18	0.50313	D	0.999867	D;D;D	0.89917	0.999;0.997;1.0	D;D;D	0.83275	0.986;0.985;0.996	T	0.83080	-0.0138	10	0.87932	D	0	-14.1346	10.3573	0.43972	0.0:0.0:0.0:1.0	.	92;92;92	O75309-2;B2R7S8;O75309	.;.;CAD16_HUMAN	F	92	ENSP00000377619:Y92F;ENSP00000299752:Y92F	ENSP00000299752:Y92F	Y	-	2	0	CDH16	65507688	1.000000	0.71417	0.994000	0.49952	0.965000	0.64279	2.693000	0.47027	1.963000	0.57068	0.496000	0.49642	TAC	.		0.622	CDH16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268839.2	NM_004062	
SLC12A4	6560	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	67980895	67980895	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:67980895G>A	ENST00000316341.3	-	17	2326	c.2186C>T	c.(2185-2187)tCt>tTt	p.S729F	CTC-479C5.17_ENST00000590594.1_lincRNA|SLC12A4_ENST00000537830.2_Missense_Mutation_p.S723F|SLC12A4_ENST00000572037.1_Missense_Mutation_p.S681F|LCAT_ENST00000264005.5_5'Flank|SLC12A4_ENST00000338335.3_Missense_Mutation_p.S729F|SLC12A4_ENST00000576616.1_Missense_Mutation_p.S729F|SLC12A4_ENST00000541864.2_Missense_Mutation_p.S698F|SLC12A4_ENST00000422611.2_Missense_Mutation_p.S731F	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	729					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	CTGGATGACAGAACCAACAAT	0.617																																					p.S731F		.											.	SLC12A4-91	0			c.C2192T						.						47.0	46.0	47.0					16																	67980895		2198	4300	6498	SO:0001583	missense	6560	exon16			ATGACAGAACCAA		CCDS10855.1, CCDS54030.1, CCDS54031.1, CCDS54032.1	16q22.1	2013-07-18	2013-07-18		ENSG00000124067	ENSG00000124067		"""Solute carriers"""	10913	protein-coding gene	gene with protein product		604119				8663127	Standard	NM_005072		Approved	KCC1	uc010ceu.2	Q9UP95	OTTHUMG00000137535	ENST00000316341.3:c.2186C>T	16.37:g.67980895G>A	ENSP00000318557:p.Ser729Phe	83	2		62	48	NM_001145962	0	0	5	20	15	B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Missense_Mutation	SNP	ENST00000316341.3	37	CCDS10855.1	.	.	.	.	.	.	.	.	.	.	G	33	5.227504	0.95173	.	.	ENSG00000124067	ENST00000422611;ENST00000541864;ENST00000537830;ENST00000338335;ENST00000316341	D;D;D;D;D	0.93906	-3.31;-3.31;-3.31;-3.17;-3.31	5.76	5.76	0.90799	.	0.052336	0.85682	D	0.000000	D	0.96956	0.9006	M	0.87381	2.88	0.80722	D	1	P;D;D;P;P;P	0.57899	0.904;0.981;0.959;0.916;0.916;0.863	P;P;P;P;P;P	0.61201	0.789;0.779;0.828;0.885;0.834;0.738	D	0.97139	0.9823	10	0.87932	D	0	.	19.9738	0.97296	0.0:0.0:1.0:0.0	.	731;729;698;723;729;729	F5H3C0;B4DF30;F5H066;F5H0S9;Q9UP95-2;Q9UP95	.;.;.;.;.;S12A4_HUMAN	F	731;698;723;729;729	ENSP00000395983:S731F;ENSP00000438334:S698F;ENSP00000445962:S723F;ENSP00000343374:S729F;ENSP00000318557:S729F	ENSP00000318557:S729F	S	-	2	0	SLC12A4	66538396	1.000000	0.71417	0.997000	0.53966	0.943000	0.58893	9.807000	0.99171	2.732000	0.93576	0.655000	0.94253	TCT	.		0.617	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268864.4	NM_005072	
FUK	197258	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	70503129	70503129	+	Silent	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:70503129C>T	ENST00000288078.6	+	10	1090	c.858C>T	c.(856-858)ccC>ccT	p.P286P	FUK_ENST00000571514.1_Intron|FUK_ENST00000378912.2_Silent_p.P318P	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	286						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|fucokinase activity (GO:0050201)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				TGGGGAGGCCCCCAGAGTTGG	0.602																																					p.P286P		.											.	FUK-91	0			c.C858T						.						117.0	121.0	119.0					16																	70503129		1963	4128	6091	SO:0001819	synonymous_variant	197258	exon10			GAGGCCCCCAGAG		CCDS10891.2	16q22.1	2008-02-05			ENSG00000157353	ENSG00000157353	2.7.1.52		29500	protein-coding gene	gene with protein product	"""L-fucose kinase"""	608675				12056818	Standard	XM_006721161		Approved	FLJ39408	uc002eyy.3	Q8N0W3	OTTHUMG00000074085	ENST00000288078.6:c.858C>T	16.37:g.70503129C>T		90	0		66	51	NM_145059	0	0	0	2	2	Q5PSM3|Q5XKL6|Q6ZRA0|Q96MT9	Silent	SNP	ENST00000288078.6	37	CCDS10891.2																																																																																			.		0.602	FUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157291.2	NM_145059	
FUK	197258	hgsc.bcm.edu	37	16	70508769	70508769	+	Silent	SNP	C	C	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:70508769C>A	ENST00000288078.6	+	18	2464	c.2232C>A	c.(2230-2232)ggC>ggA	p.G744G	FUK_ENST00000571514.1_Silent_p.G235G|FUK_ENST00000378912.2_Silent_p.G776G	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	744						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|fucokinase activity (GO:0050201)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				GAGTGGACGGCCGCCGGCCCA	0.672																																					p.G744G		.											.	FUK-91	0			c.C2232A						.						11.0	16.0	14.0					16																	70508769		2054	4162	6216	SO:0001819	synonymous_variant	197258	exon18			GGACGGCCGCCGG		CCDS10891.2	16q22.1	2008-02-05			ENSG00000157353	ENSG00000157353	2.7.1.52		29500	protein-coding gene	gene with protein product	"""L-fucose kinase"""	608675				12056818	Standard	XM_006721161		Approved	FLJ39408	uc002eyy.3	Q8N0W3	OTTHUMG00000074085	ENST00000288078.6:c.2232C>A	16.37:g.70508769C>A		4	0		47	39	NM_145059	0	0	0	3	3	Q5PSM3|Q5XKL6|Q6ZRA0|Q96MT9	Silent	SNP	ENST00000288078.6	37	CCDS10891.2																																																																																			.		0.672	FUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157291.2	NM_145059	
ZFHX3	463	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	16	72822586	72822586	+	Frame_Shift_Del	DEL	G	G	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:72822586delG	ENST00000268489.5	-	10	10261	c.9589delC	c.(9589-9591)cagfs	p.Q3204fs	ZFHX3_ENST00000397992.5_Frame_Shift_Del_p.Q2290fs|RP5-991G20.1_ENST00000563328.2_RNA|AC004943.1_ENST00000584072.1_RNA|RP5-991G20.4_ENST00000569195.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3204	Poly-Gln.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				tgctgctgctgGGGGGGTTGC	0.657																																					p.Q3197fs		.											.	ZFHX3-72	0			c.9589delC						.						54.0	64.0	61.0					16																	72822586		2196	4296	6492	SO:0001589	frameshift_variant	463	exon10			GCTGCTGGGGGGG	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.9589delC	16.37:g.72822586delG	ENSP00000268489:p.Gln3204fs	53	0		111	50	NM_006885	0	0	0	0	0	D3DWS8|O15101|Q13719	Frame_Shift_Del	DEL	ENST00000268489.5	37	CCDS10908.1																																																																																			.		0.657	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885	
WDR59	79726	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	74922199	74922199	+	Silent	SNP	C	C	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:74922199C>A	ENST00000262144.6	-	22	2344	c.2214G>T	c.(2212-2214)cgG>cgT	p.R738R		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	738										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						CATCCCGGAGCCGGCAATAGT	0.532																																					p.R738R		.											.	WDR59-92	0			c.G2214T						.						33.0	33.0	33.0					16																	74922199		2198	4300	6498	SO:0001819	synonymous_variant	79726	exon22			CCGGAGCCGGCAA	AB067510	CCDS32488.1	16q22.3	2013-01-09				ENSG00000103091		"""WD repeat domain containing"""	25706	protein-coding gene	gene with protein product						11572484	Standard	XM_005256146		Approved	FLJ12270	uc002fdh.1	Q6PJI9		ENST00000262144.6:c.2214G>T	16.37:g.74922199C>A		105	0		130	57	NM_030581	0	0	17	35	18	B3KRC3|Q71RE7|Q96PW5|Q9BSW6|Q9HA43	Silent	SNP	ENST00000262144.6	37	CCDS32488.1																																																																																			.		0.532	WDR59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410601.3	NM_030581	
ZFP1	162239	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	75200759	75200759	+	Missense_Mutation	SNP	T	T	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:75200759T>G	ENST00000393430.2	+	3	231	c.107T>G	c.(106-108)gTg>gGg	p.V36G	ZFP1_ENST00000568079.1_Intron|ZFP1_ENST00000332307.4_Missense_Mutation_p.V3G|ZFP1_ENST00000570010.1_Missense_Mutation_p.V36G|ZFP1_ENST00000567481.1_Missense_Mutation_p.V36G|ZFP1_ENST00000563356.1_3'UTR|ZFP1_ENST00000464850.1_Missense_Mutation_p.V36G			Q6P2D0	ZFP1_HUMAN	ZFP1 zinc finger protein	36	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	12						TACATGGATGTGATGCTGGAG	0.468																																					p.V36G	NSCLC(187;1429 2122 10143 20357 42217)	.											.	ZFP1-92	0			c.T107G						.						136.0	141.0	139.0					16																	75200759		2144	4282	6426	SO:0001583	missense	162239	exon3			TGGATGTGATGCT	AK094761	CCDS10914.2	16q22.3	2013-01-08	2012-11-27		ENSG00000184517	ENSG00000184517		"""Zinc fingers, C2H2-type"", ""-"""	23328	protein-coding gene	gene with protein product			"""zinc finger protein 1 homolog (mouse)"", ""zinc finger protein 1"""			2574853	Standard	NM_153688		Approved	FLJ34243, ZNF475	uc002fdo.3	Q6P2D0	OTTHUMG00000137602	ENST00000393430.2:c.107T>G	16.37:g.75200759T>G	ENSP00000377080:p.Val36Gly	130	0		167	56	NM_153688	0	0	7	12	5	A8K5Q7|B4DKG9|Q8N188|Q8N9F9	Missense_Mutation	SNP	ENST00000393430.2	37	CCDS10914.2	.	.	.	.	.	.	.	.	.	.	T	17.18	3.322844	0.60634	.	.	ENSG00000184517	ENST00000332307;ENST00000393430	T	0.03920	3.76	3.35	3.35	0.38373	Krueppel-associated box (4);	0.000000	0.41001	D	0.000975	T	0.34221	0.0890	H	0.98738	4.315	0.53688	D	0.999978	D	0.89917	1.0	D	0.91635	0.999	T	0.53173	-0.8476	10	0.87932	D	0	-17.3796	10.3559	0.43964	0.0:0.0:0.0:1.0	.	36	Q6P2D0	ZFP1_HUMAN	G	36	ENSP00000377080:V36G	ENSP00000333192:V36G	V	+	2	0	ZFP1	73758260	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	5.655000	0.67981	1.773000	0.52216	0.260000	0.18958	GTG	.		0.468	ZFP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269013.2	NM_153688	
CHST6	4166	hgsc.bcm.edu	37	16	75513043	75513043	+	Silent	SNP	G	G	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:75513043G>T	ENST00000332272.4	-	3	863	c.684C>A	c.(682-684)acC>acA	p.T228T	RP11-77K12.4_ENST00000530512.3_RNA|CHST6_ENST00000390664.2_Silent_p.T228T	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	228					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						ACGTGCCGTTGGTGCCCAGCA	0.721																																					p.T228T		.											.	CHST6-90	0			c.C684A						.						20.0	22.0	21.0					16																	75513043		2191	4270	6461	SO:0001819	synonymous_variant	4166	exon3			GCCGTTGGTGCCC	AF280086	CCDS10918.1	16q22	2008-02-05			ENSG00000183196	ENSG00000183196		"""Sulfotransferases, membrane-bound"""	6938	protein-coding gene	gene with protein product		605294		MCDC1		8644739, 11017086	Standard	NM_021615		Approved		uc002fef.3	Q9GZX3	OTTHUMG00000137612	ENST00000332272.4:c.684C>A	16.37:g.75513043G>T		0	0		98	42	NM_021615	0	0	0	0	0	D3DUK3	Silent	SNP	ENST00000332272.4	37	CCDS10918.1																																																																																			.		0.721	CHST6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435478.1	NM_021615	
PKD1L2	114780	broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	81181855	81181855	+	RNA	SNP	G	G	A	rs373542968		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:81181855G>A	ENST00000525539.1	-	0	4860				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TTCGCGACCCGGGGACGGGTG	0.587																																					.		.											.	PKD1L2-92	0			.						.	G	TRP/ARG	0,3738		0,0,1869	51.0	53.0	52.0		4861	1.7	0.8	16		52	2,8216		0,2,4107	no	missense	PKD1L2	NM_052892.3	101	0,2,5976	AA,AG,GG		0.0243,0.0,0.0167	possibly-damaging	1621/2460	81181855	2,11954	1869	4109	5978			114780	.			CGACCCGGGGACG	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81181855G>A		90	1		106	50	.	0	0	0	0	0	Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	RNA	SNP	ENST00000525539.1	37																																																																																				.		0.587	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2		
ADAD2	161931	hgsc.bcm.edu	37	16	84224967	84224967	+	Missense_Mutation	SNP	G	G	A	rs8044695|rs554488585	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:84224967G>A	ENST00000315906.5	+	1	183	c.131G>A	c.(130-132)gGg>gAg	p.G44E	ADAD2_ENST00000268624.3_Missense_Mutation_p.G44E|RP11-486L19.2_ENST00000536986.1_RNA|ADAD2_ENST00000567413.1_3'UTR|RP11-486L19.2_ENST00000565643.1_RNA|RP11-486L19.2_ENST00000561900.1_RNA	NM_001145400.1	NP_001138872.1	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	44			G -> E (in dbSNP:rs8044695). {ECO:0000269|PubMed:14702039, ECO:0000269|Ref.3}.		RNA processing (GO:0006396)		adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						AGTGCCTgggggcccgcgccc	0.751														3435	0.685903	0.8616	0.6686	5008	,	,		11640	0.6677		0.6471	False		,,,				2504	0.5194				p.G44E		.											.	ADAD2-68	0			c.G131A						.	A	GLU/GLY,GLU/GLY	3145,519		1356,433,43	5.0	7.0	7.0		131,131	-1.1	0.0	16	dbSNP_116	7	5102,2224		1808,1486,369	no	missense,missense	ADAD2	NM_001145400.1,NM_139174.3	98,98	3164,1919,412	AA,AG,GG		30.3576,14.1648,24.9591	benign,benign	44/584,44/666	84224967	8247,2743	1832	3663	5495	SO:0001583	missense	161931	exon1			CCTGGGGGCCCGC	AF447586	CCDS10944.1, CCDS45536.1	16q24.1	2007-05-31			ENSG00000140955	ENSG00000140955			30714	protein-coding gene	gene with protein product							Standard	NM_139174		Approved	TENRL, FLJ00337	uc002fhr.2	Q8NCV1	OTTHUMG00000137637	ENST00000315906.5:c.131G>A	16.37:g.84224967G>A	ENSP00000325153:p.Gly44Glu	0	0		17	16	NM_001145400	0	0	0	0	0	B2RCL6|Q8NA94	Missense_Mutation	SNP	ENST00000315906.5	37	CCDS45536.1	1545	0.7074175824175825	420	0.8536585365853658	227	0.6270718232044199	403	0.7045454545454546	495	0.6530343007915568	A	0.689	-0.795256	0.02862	0.858352	0.696424	ENSG00000140955	ENST00000315906;ENST00000268624	T;T	0.16196	2.36;2.47	3.61	-1.07	0.09968	.	1.276770	0.06034	N	0.653713	T	0.00012	0.0000	N	0.01874	-0.695	0.80722	P	0.0	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.30297	-0.9983	9	0.02654	T	1	-5.6132	8.9029	0.35505	0.4397:0.0:0.5603:0.0	rs8044695;rs57310648	44;44	Q8NCV1;Q8NCV1-2	ADAD2_HUMAN;.	E	44	ENSP00000325153:G44E;ENSP00000268624:G44E	ENSP00000268624:G44E	G	+	2	0	ADAD2	82782468	0.057000	0.20700	0.000000	0.03702	0.002000	0.02628	-0.069000	0.11542	-0.575000	0.05982	-1.305000	0.01319	GGG	G|0.292;A|0.708		0.751	ADAD2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433385.1	NM_139174	
ZCCHC14	23174	hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	16	87445168	87445168	+	Missense_Mutation	SNP	G	G	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:87445168G>T	ENST00000268616.4	-	12	2965	c.2748C>A	c.(2746-2748)caC>caA	p.H916Q		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	916							nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		CCTGGGCGCGGTGACCAGTGG	0.622																																					p.H916Q		.											.	ZCCHC14-154	0			c.C2748A						.						87.0	90.0	89.0					16																	87445168		2198	4300	6498	SO:0001583	missense	23174	exon12			GGCGCGGTGACCA	AB011151	CCDS10961.1	16q24.2	2013-01-10			ENSG00000140948	ENSG00000140948		"""Zinc fingers, CCHC domain containing"", ""Sterile alpha motif (SAM) domain containing"""	24134	protein-coding gene	gene with protein product						9628581	Standard	XM_005255858		Approved	BDG29, MGC14139	uc002fjz.1	Q8WYQ9	OTTHUMG00000137655	ENST00000268616.4:c.2748C>A	16.37:g.87445168G>T	ENSP00000268616:p.His916Gln	131	0		117	51	NM_015144	0	0	12	12	0	D3DUN1|O60324|Q3MJD8|Q9UFP0	Missense_Mutation	SNP	ENST00000268616.4	37	CCDS10961.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.710289	0.48517	.	.	ENSG00000140948	ENST00000268616	D	0.97811	-4.55	5.31	4.35	0.52113	Zinc finger, CCHC retroviral-type (1);Zinc finger, CCHC-type (3);	0.000000	0.85682	D	0.000000	D	0.98273	0.9428	M	0.68593	2.085	0.43187	D	0.995019	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99218	1.0878	10	0.87932	D	0	-26.1071	14.1144	0.65144	0.073:0.0:0.927:0.0	.	916;916	Q8WYQ9-2;Q8WYQ9	.;ZCH14_HUMAN	Q	916	ENSP00000268616:H916Q	ENSP00000268616:H916Q	H	-	3	2	ZCCHC14	86002669	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	3.689000	0.54706	1.358000	0.45922	0.655000	0.94253	CAC	.		0.622	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269107.1	NM_015144	
ZCCHC14	23174	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	87445179	87445179	+	Missense_Mutation	SNP	C	C	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:87445179C>A	ENST00000268616.4	-	12	2954	c.2737G>T	c.(2737-2739)Gcc>Tcc	p.A913S		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	913							nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		TGACCAGTGGCCCCGCAGTTG	0.632																																					p.A913S		.											.	ZCCHC14-154	0			c.G2737T						.						84.0	84.0	84.0					16																	87445179		2198	4300	6498	SO:0001583	missense	23174	exon12			CAGTGGCCCCGCA	AB011151	CCDS10961.1	16q24.2	2013-01-10			ENSG00000140948	ENSG00000140948		"""Zinc fingers, CCHC domain containing"", ""Sterile alpha motif (SAM) domain containing"""	24134	protein-coding gene	gene with protein product						9628581	Standard	XM_005255858		Approved	BDG29, MGC14139	uc002fjz.1	Q8WYQ9	OTTHUMG00000137655	ENST00000268616.4:c.2737G>T	16.37:g.87445179C>A	ENSP00000268616:p.Ala913Ser	140	0		131	61	NM_015144	0	0	10	10	0	D3DUN1|O60324|Q3MJD8|Q9UFP0	Missense_Mutation	SNP	ENST00000268616.4	37	CCDS10961.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.832575	0.50845	.	.	ENSG00000140948	ENST00000268616	T	0.76186	-1.0	5.55	5.55	0.83447	Zinc finger, CCHC retroviral-type (1);Zinc finger, CCHC-type (3);	0.204155	0.42294	D	0.000732	T	0.67702	0.2921	L	0.44542	1.39	0.27350	N	0.956266	B;P	0.38729	0.42;0.644	B;B	0.36378	0.143;0.223	T	0.68640	-0.5355	10	0.66056	D	0.02	-30.6972	14.6695	0.68934	0.1453:0.8547:0.0:0.0	.	913;913	Q8WYQ9-2;Q8WYQ9	.;ZCH14_HUMAN	S	913	ENSP00000268616:A913S	ENSP00000268616:A913S	A	-	1	0	ZCCHC14	86002680	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	2.275000	0.43399	2.755000	0.94549	0.655000	0.94253	GCC	.		0.632	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269107.1	NM_015144	
ZNF469	84627	hgsc.bcm.edu;bcgsc.ca	37	16	88504203	88504203	+	Frame_Shift_Del	DEL	G	G	-	rs199528724	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:88504203delG	ENST00000437464.1	+	2	10241	c.10241delG	c.(10240-10242)aggfs	p.R3414fs	ZNF469_ENST00000565624.1_Frame_Shift_Del_p.R3442fs	NM_001127464.1	NP_001120936.1	Q96JG9	ZN469_HUMAN	zinc finger protein 469	3414					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R3414T(1)		breast(4)|endometrium(6)|kidney(3)|large_intestine(1)|skin(6)	20						AAGCACCTCAGGGGGGGGCGG	0.667																																					p.R3414fs		.											.	.	1	Substitution - Missense(1)	breast(1)	c.10241delG						.						4.0	5.0	5.0					16																	88504203		675	1551	2226	SO:0001589	frameshift_variant	84627	exon2			ACCTCAGGGGGGG	AB058761	CCDS45544.1	16q24	2010-08-04				ENSG00000225614		"""Zinc fingers, C2H2-type"""	23216	protein-coding gene	gene with protein product		612078				11347906	Standard	NM_001127464		Approved	KIAA1858	uc002fku.2	Q96JG9		ENST00000437464.1:c.10241delG	16.37:g.88504203delG	ENSP00000402343:p.Arg3414fs	43	1		87	36	NM_001127464	0	0	0	0	0		Frame_Shift_Del	DEL	ENST00000437464.1	37	CCDS45544.1																																																																																			.		0.667	ZNF469-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NG_012236	
ZFPM1	161882	hgsc.bcm.edu	37	16	88599696	88599697	+	Frame_Shift_Del	DEL	GA	GA	-	rs368520732|rs67712719	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	GA	GA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:88599696_88599697delGA	ENST00000319555.3	+	10	1652_1653	c.1330_1331delGA	c.(1330-1332)gagfs	p.E444fs	RP11-21B21.4_ENST00000563243.1_RNA	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	444				EPLA -> AP (in Ref. 1; AAN45858). {ECO:0000305}.	atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|cardiac muscle tissue morphogenesis (GO:0055008)|definitive erythrocyte differentiation (GO:0060318)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|mitral valve formation (GO:0003192)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of interleukin-4 biosynthetic process (GO:0045403)|negative regulation of mast cell differentiation (GO:0060377)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract morphogenesis (GO:0003151)|platelet formation (GO:0030220)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|primitive erythrocyte differentiation (GO:0060319)|regulation of chemokine production (GO:0032642)|regulation of definitive erythrocyte differentiation (GO:0010724)|T-helper cell lineage commitment (GO:0002295)|transcriptional activation by promoter-enhancer looping (GO:0071733)|tricuspid valve formation (GO:0003195)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		GGCCAGAGCGGAGCCTCTGGCC	0.743														4881	0.974641	0.9138	0.9914	5008	,	,		7261	0.996		1.0	False		,,,				2504	0.9969				p.444_444del	Pancreas(49;850 1106 29641 32847 38344)	.											.	ZFPM1-90	0			c.1330_1331del						.			2219,383		1063,93,145						-6.5	0.0		dbSNP_130	3	4709,133		2339,31,51	no	frameshift	ZFPM1	NM_153813.2		3402,124,196	A1A1,A1R,RR		2.7468,14.7194,6.9318				6928,516				SO:0001589	frameshift_variant	161882	exon10			AGAGCGGAGCCTC	AF488691	CCDS32502.1	16q24.2	2013-01-10	2012-11-27		ENSG00000179588	ENSG00000179588		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	19762	protein-coding gene	gene with protein product		601950	"""zinc finger protein, multitype 1"""				Standard	NM_153813		Approved	FOG1, FOG, ZNF89A, ZC2HC11A	uc002fkv.3	Q8IX07	OTTHUMG00000173152	ENST00000319555.3:c.1330_1331delGA	16.37:g.88599696_88599697delGA	ENSP00000326630:p.Glu444fs	0	0		31	24	NM_153813	0	0	0	0	0		Frame_Shift_Del	DEL	ENST00000319555.3	37	CCDS32502.1																																																																																			.		0.743	ZFPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422270.2		
ZFPM1	161882	hgsc.bcm.edu	37	16	88599697	88599705	+	In_Frame_Del	DEL	AGCCTCTGG	AGCCTCTGG	-	rs67873604|rs149145771|rs368520732|rs67322929|rs201915453|rs67712719	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	AGCCTCTGG	AGCCTCTGG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:88599697_88599705delAGCCTCTGG	ENST00000319555.3	+	10	1653_1661	c.1331_1339delAGCCTCTGG	c.(1330-1341)gagcctctggcc>gcc	p.EPL444del	RP11-21B21.4_ENST00000563243.1_RNA	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	444				EPLA -> AP (in Ref. 1; AAN45858). {ECO:0000305}.	atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|cardiac muscle tissue morphogenesis (GO:0055008)|definitive erythrocyte differentiation (GO:0060318)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|mitral valve formation (GO:0003192)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of interleukin-4 biosynthetic process (GO:0045403)|negative regulation of mast cell differentiation (GO:0060377)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract morphogenesis (GO:0003151)|platelet formation (GO:0030220)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|primitive erythrocyte differentiation (GO:0060319)|regulation of chemokine production (GO:0032642)|regulation of definitive erythrocyte differentiation (GO:0010724)|T-helper cell lineage commitment (GO:0002295)|transcriptional activation by promoter-enhancer looping (GO:0071733)|tricuspid valve formation (GO:0003195)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		GCCAGAGCGGAGCCTCTGGCCCAGAATGG	0.746																																					p.444_447del	Pancreas(49;850 1106 29641 32847 38344)	.											.	ZFPM1-90	0			c.1331_1339del						.																																			SO:0001651	inframe_deletion	161882	exon10			GAGCGGAGCCTCT	AF488691	CCDS32502.1	16q24.2	2013-01-10	2012-11-27		ENSG00000179588	ENSG00000179588		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	19762	protein-coding gene	gene with protein product		601950	"""zinc finger protein, multitype 1"""				Standard	NM_153813		Approved	FOG1, FOG, ZNF89A, ZC2HC11A	uc002fkv.3	Q8IX07	OTTHUMG00000173152	ENST00000319555.3:c.1331_1339delAGCCTCTGG	16.37:g.88599697_88599705delAGCCTCTGG	ENSP00000326630:p.Glu444_Leu446del	0	0		30	0	NM_153813	0	0	0	0	0		In_Frame_Del	DEL	ENST00000319555.3	37	CCDS32502.1																																																																																			.		0.746	ZFPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422270.2		
ZFPM1	161882	hgsc.bcm.edu	37	16	88599701	88599701	+	Frame_Shift_Del	DEL	T	T	-	rs67322929|rs149145771	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:88599701delT	ENST00000319555.3	+	10	1657	c.1335delT	c.(1333-1335)cctfs	p.P445fs	RP11-21B21.4_ENST00000563243.1_RNA	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	445				EPLA -> AP (in Ref. 1; AAN45858). {ECO:0000305}.	atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|cardiac muscle tissue morphogenesis (GO:0055008)|definitive erythrocyte differentiation (GO:0060318)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|mitral valve formation (GO:0003192)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of interleukin-4 biosynthetic process (GO:0045403)|negative regulation of mast cell differentiation (GO:0060377)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract morphogenesis (GO:0003151)|platelet formation (GO:0030220)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|primitive erythrocyte differentiation (GO:0060319)|regulation of chemokine production (GO:0032642)|regulation of definitive erythrocyte differentiation (GO:0010724)|T-helper cell lineage commitment (GO:0002295)|transcriptional activation by promoter-enhancer looping (GO:0071733)|tricuspid valve formation (GO:0003195)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		GAGCGGAGCCTCTGGCCCAGA	0.746													-|T|-|insertion	4871	0.972644	0.9145	0.9899	5008	,	,		7405	0.995		0.994	False		,,,				2504	0.9939				p.P445fs	Pancreas(49;850 1106 29641 32847 38344)	.											.	ZFPM1-90	0			c.1335delT						.						1.0	1.0	1.0					16																	88599701		392	657	1049	SO:0001589	frameshift_variant	161882	exon10			GGAGCCTCTGGCC	AF488691	CCDS32502.1	16q24.2	2013-01-10	2012-11-27		ENSG00000179588	ENSG00000179588		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	19762	protein-coding gene	gene with protein product		601950	"""zinc finger protein, multitype 1"""				Standard	NM_153813		Approved	FOG1, FOG, ZNF89A, ZC2HC11A	uc002fkv.3	Q8IX07	OTTHUMG00000173152	ENST00000319555.3:c.1335delT	16.37:g.88599701delT	ENSP00000326630:p.Pro445fs	0	0		27	19	NM_153813	0	0	0	0	0		Frame_Shift_Del	DEL	ENST00000319555.3	37	CCDS32502.1																																																																																			.		0.746	ZFPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422270.2		
ZFPM1	161882	hgsc.bcm.edu	37	16	88599703	88599705	+	In_Frame_Del	DEL	TGG	TGG	-	rs149145771|rs67873604	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	TGG	TGG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:88599703_88599705delTGG	ENST00000319555.3	+	10	1659_1661	c.1337_1339delTGG	c.(1336-1341)ctggcc>ccc	p.446_447LA>P	RP11-21B21.4_ENST00000563243.1_RNA	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	446				EPLA -> AP (in Ref. 1; AAN45858). {ECO:0000305}.	atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|cardiac muscle tissue morphogenesis (GO:0055008)|definitive erythrocyte differentiation (GO:0060318)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|mitral valve formation (GO:0003192)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of interleukin-4 biosynthetic process (GO:0045403)|negative regulation of mast cell differentiation (GO:0060377)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract morphogenesis (GO:0003151)|platelet formation (GO:0030220)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|primitive erythrocyte differentiation (GO:0060319)|regulation of chemokine production (GO:0032642)|regulation of definitive erythrocyte differentiation (GO:0010724)|T-helper cell lineage commitment (GO:0002295)|transcriptional activation by promoter-enhancer looping (GO:0071733)|tricuspid valve formation (GO:0003195)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		GCGGAGCCTCTGGCCCAGAATGG	0.739														4871	0.972644	0.9145	0.9899	5008	,	,		7191	0.995		0.994	False		,,,				2504	0.9939				p.446_447del	Pancreas(49;850 1106 29641 32847 38344)	.											.	ZFPM1-90	0			c.1337_1339del						.																																			SO:0001651	inframe_deletion	161882	exon10			AGCCTCTGGCCCA	AF488691	CCDS32502.1	16q24.2	2013-01-10	2012-11-27		ENSG00000179588	ENSG00000179588		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	19762	protein-coding gene	gene with protein product		601950	"""zinc finger protein, multitype 1"""				Standard	NM_153813		Approved	FOG1, FOG, ZNF89A, ZC2HC11A	uc002fkv.3	Q8IX07	OTTHUMG00000173152	ENST00000319555.3:c.1337_1339delTGG	16.37:g.88599703_88599705delTGG	ENSP00000326630:p.Leu446_Ala447delinsPro	0	0		25	19	NM_153813	0	0	0	0	0		In_Frame_Del	DEL	ENST00000319555.3	37	CCDS32502.1																																																																																			.		0.739	ZFPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422270.2		
ZC3H18	124245	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	16	88691141	88691141	+	Frame_Shift_Del	DEL	C	C	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:88691141delC	ENST00000301011.5	+	12	2230	c.2030delC	c.(2029-2031)accfs	p.T677fs	ZC3H18_ENST00000452588.2_Frame_Shift_Del_p.T701fs	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	677	Ser-rich.					nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R680fs*5(1)		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)		CCAGCCAGGACCCCCCCCAGG	0.667																																					p.T677fs	Ovarian(121;375 2276 20373 38669)	.											.	ZC3H18-69	1	Deletion - Frameshift(1)	large_intestine(1)	c.2030delC						.						24.0	38.0	33.0					16																	88691141		2192	4300	6492	SO:0001589	frameshift_variant	124245	exon12			CCAGGACCCCCCC	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.2030delC	16.37:g.88691141delC	ENSP00000301011:p.Thr677fs	73	0		128	54	NM_144604	0	0	0	0	0	Q96DG4|Q96MP7	Frame_Shift_Del	DEL	ENST00000301011.5	37	CCDS10967.1																																																																																			.		0.667	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1	NM_144604	
PIEZO1	9780	hgsc.bcm.edu;broad.mit.edu	37	16	88787611	88787611	+	Frame_Shift_Del	DEL	C	C	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:88787611delC	ENST00000301015.9	-	39	5877	c.5631delG	c.(5629-5631)aagfs	p.K1878fs	RP5-1142A6.9_ENST00000564984.1_RNA|PIEZO1_ENST00000327397.7_5'Flank	NM_001142864.2	NP_001136336.2	Q92508	PIEZ1_HUMAN	piezo-type mechanosensitive ion channel component 1	1878					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of mechanical stimulus (GO:0050982)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|positive regulation of integrin activation (GO:0033625)|regulation of membrane potential (GO:0042391)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|prostate(2)|skin(1)	10						GGCCCTCCTTCTTCCTTCTTC	0.612																																					p.K1877fs		.											.	.	0			c.5631delG						.						32.0	32.0	32.0					16																	88787611		691	1584	2275	SO:0001589	frameshift_variant	9780	exon39			CTCCTTCTTCCTT	D87071	CCDS54058.1	16q24.3	2011-08-31	2011-08-31	2011-08-31	ENSG00000103335	ENSG00000103335			28993	protein-coding gene	gene with protein product		611184	"""family with sequence similarity 38, member A"""	FAM38A		20813920, 21056836, 21299953, 21696149	Standard	NM_001142864		Approved	KIAA0233	uc010vpb.2	Q92508	OTTHUMG00000156776	ENST00000301015.9:c.5631delG	16.37:g.88787611delC	ENSP00000301015:p.Lys1878fs	23	0		29	10	NM_001142864	0	0	0	0	0	A6NHT9|A7E2B7|Q0KKZ9	Frame_Shift_Del	DEL	ENST00000301015.9	37	CCDS54058.1																																																																																			.		0.612	PIEZO1-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000345699.4	NM_014745	
PIEZO1	9780	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	16	88787613	88787614	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	TC	TC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:88787613_88787614delTC	ENST00000301015.9	-	39	5874_5875	c.5628_5629delGA	c.(5626-5631)aggaagfs	p.K1878fs	RP5-1142A6.9_ENST00000564984.1_RNA|PIEZO1_ENST00000327397.7_5'Flank	NM_001142864.2	NP_001136336.2	Q92508	PIEZ1_HUMAN	piezo-type mechanosensitive ion channel component 1	1878					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of mechanical stimulus (GO:0050982)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|positive regulation of integrin activation (GO:0033625)|regulation of membrane potential (GO:0042391)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|prostate(2)|skin(1)	10						CCCTCCTTCTTCCTTCTTCTAA	0.609																																					p.1876_1877del		.											.	.	0			c.5628_5629del						.																																			SO:0001589	frameshift_variant	9780	exon39			CCTTCTTCCTTCT	D87071	CCDS54058.1	16q24.3	2011-08-31	2011-08-31	2011-08-31	ENSG00000103335	ENSG00000103335			28993	protein-coding gene	gene with protein product		611184	"""family with sequence similarity 38, member A"""	FAM38A		20813920, 21056836, 21299953, 21696149	Standard	NM_001142864		Approved	KIAA0233	uc010vpb.2	Q92508	OTTHUMG00000156776	ENST00000301015.9:c.5628_5629delGA	16.37:g.88787613_88787614delTC	ENSP00000301015:p.Lys1878fs	23	0		29	10	NM_001142864	0	0	0	0	0	A6NHT9|A7E2B7|Q0KKZ9	Frame_Shift_Del	DEL	ENST00000301015.9	37	CCDS54058.1																																																																																			.		0.609	PIEZO1-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000345699.4	NM_014745	
GALNS	2588	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	88909119	88909119	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:88909119G>A	ENST00000268695.5	-	2	327	c.239C>T	c.(238-240)tCg>tTg	p.S80L	GALNS_ENST00000542788.1_Intron|GALNS_ENST00000565364.1_5'UTR	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN	galactosamine (N-acetyl)-6-sulfatase	80	Catalytic domain.		S -> L (in MPS4A; intermediate form). {ECO:0000269|PubMed:24726177, ECO:0000269|PubMed:9375852}.		carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)|N-acetylgalactosamine-6-sulfatase activity (GO:0043890)|sulfuric ester hydrolase activity (GO:0008484)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22				BRCA - Breast invasive adenocarcinoma(80;0.0496)		CTTACATGGCGAGCACAGAGG	0.632																																					p.S80L	GBM(129;1929 2344 25209 33204)	.											.	GALNS-153	0			c.C239T	GRCh37	CM970577	GALNS	M		.						53.0	46.0	49.0					16																	88909119		2193	4297	6490	SO:0001583	missense	2588	exon2			CATGGCGAGCACA	D17629	CCDS10970.1	16q24.3	2014-07-03	2014-07-03		ENSG00000141012	ENSG00000141012	3.1.6.4	"""Arylsulfatase family"""	4122	protein-coding gene	gene with protein product	"""Morquio syndrome"", ""mucopolysaccharidosis type IVA"""	612222	"""galactosamine (N-acetyl)-6-sulfate sulfatase"""			1755850	Standard	NM_000512		Approved	GAS, GALNAC6S	uc002fly.4	P34059	OTTHUMG00000137862	ENST00000268695.5:c.239C>T	16.37:g.88909119G>A	ENSP00000268695:p.Ser80Leu	62	0		111	58	NM_000512	0	0	0	2	2	Q86VK3	Missense_Mutation	SNP	ENST00000268695.5	37	CCDS10970.1	.	.	.	.	.	.	.	.	.	.	G	31	5.069170	0.93950	.	.	ENSG00000141012	ENST00000268695	D	0.98876	-5.2	5.0	5.0	0.66597	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase, conserved site (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.99236	0.9734	M	0.88450	2.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.70016	0.967;0.967	D	0.99327	1.0908	10	0.87932	D	0	.	18.6415	0.91397	0.0:0.0:1.0:0.0	.	80;80	B2R6P1;P34059	.;GALNS_HUMAN	L	80	ENSP00000268695:S80L	ENSP00000268695:S80L	S	-	2	0	GALNS	87436620	1.000000	0.71417	0.965000	0.40720	0.715000	0.41141	9.484000	0.97940	2.495000	0.84180	0.561000	0.74099	TCG	.		0.632	GALNS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269543.1		
CPNE7	27132	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	89653121	89653121	+	Missense_Mutation	SNP	G	G	A	rs376277946		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:89653121G>A	ENST00000268720.5	+	10	1179	c.1049G>A	c.(1048-1050)cGc>cAc	p.R350H	CPNE7_ENST00000319518.8_Missense_Mutation_p.R275H	NM_014427.4	NP_055242.1	Q9UBL6	CPNE7_HUMAN	copine VII	350					lipid metabolic process (GO:0006629)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)	transporter activity (GO:0005215)	p.R350H(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		CAGAAGAGACGCAGTTATAAG	0.607																																					p.R350H		.											.	CPNE7-90	1	Substitution - Missense(1)	ovary(1)	c.G1049A						.		HIS/ARG,HIS/ARG	0,4396		0,0,2198	123.0	110.0	114.0		1049,824	3.3	0.7	16		114	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CPNE7	NM_014427.4,NM_153636.2	29,29	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	350/634,275/559	89653121	1,12995	2198	4300	6498	SO:0001583	missense	27132	exon10			AGAGACGCAGTTA	AJ133798	CCDS10980.1, CCDS10981.1	16q24.3	2008-07-03			ENSG00000178773	ENSG00000178773			2320	protein-coding gene	gene with protein product		605689					Standard	NM_014427		Approved		uc002fnq.3	Q9UBL6	OTTHUMG00000138051	ENST00000268720.5:c.1049G>A	16.37:g.89653121G>A	ENSP00000268720:p.Arg350His	79	0		119	49	NM_014427	0	0	0	1	1		Missense_Mutation	SNP	ENST00000268720.5	37	CCDS10980.1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.615694	0.46631	0.0	1.16E-4	ENSG00000178773	ENST00000319518;ENST00000268720	T;T	0.14766	2.51;2.48	4.26	3.3	0.37823	C2 calcium/lipid-binding domain, CaLB (1);	0.052439	0.64402	D	0.000001	T	0.23492	0.0568	L	0.41573	1.285	0.32949	D	0.519462	D;D	0.76494	0.998;0.999	P;P	0.62014	0.897;0.891	T	0.25012	-1.0144	10	0.87932	D	0	-27.522	11.0715	0.48006	0.0944:0.0:0.9056:0.0	.	275;350	Q9UBL6-2;Q9UBL6	.;CPNE7_HUMAN	H	275;350	ENSP00000317374:R275H;ENSP00000268720:R350H	ENSP00000268720:R350H	R	+	2	0	CPNE7	88180622	0.946000	0.32159	0.739000	0.30968	0.091000	0.18340	2.483000	0.45233	0.889000	0.36185	0.550000	0.68814	CGC	.		0.607	CPNE7-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269929.2		
C17orf97	400566	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	17	260403	260405	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	GAA	GAA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr17:260403_260405delGAA	ENST00000571106.1	+	1	276_278	c.270_272delGAA	c.(268-273)aggaag>agg	p.K93del	AC108004.3_ENST00000599026.1_RNA|AC108004.3_ENST00000466740.2_RNA|C17orf97_ENST00000360127.6_In_Frame_Del_p.K93del			Q6ZQX7	CQ097_HUMAN	chromosome 17 open reading frame 97	93	Poly-Lys.									breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						agaaaaaaaggaagaagaagaCC	0.665																																					p.90_91del		.											.	C17orf97-91	0			c.270_272del						.																																			SO:0001651	inframe_deletion	400566	exon1			AAAAAGGAAGAAG	AK128660, BC057385	CCDS32519.2	17p13.3	2008-08-15			ENSG00000187624	ENSG00000187624			33800	protein-coding gene	gene with protein product						12477932	Standard	NM_001013672		Approved	LOC400566	uc021tna.1	Q6ZQX7	OTTHUMG00000132479	ENST00000571106.1:c.270_272delGAA	17.37:g.260409_260411delGAA	ENSP00000458320:p.Lys93del	19	0		20	15	NM_001013672	0	0	0	0	0	A5D8T6|Q6NSI2|Q6PFW9	In_Frame_Del	DEL	ENST00000571106.1	37																																																																																				.		0.665	C17orf97-003	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000436874.1	NM_001013672	
SHPK	23729	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	17	3518689	3518689	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr17:3518689G>A	ENST00000225519.3	-	6	1068	c.966C>T	c.(964-966)aaC>aaT	p.N322N		NM_013276.2	NP_037408	Q9UHJ6	SHPK_HUMAN	sedoheptulokinase	322					carbohydrate metabolic process (GO:0005975)|cellular response to interleukin-13 (GO:0035963)|cellular response to interleukin-4 (GO:0071353)|cellular response to lipopolysaccharide (GO:0071222)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|phosphorylation (GO:0016310)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|sedoheptulokinase activity (GO:0050277)			breast(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				COAD - Colon adenocarcinoma(5;0.0828)		CATTGCCCCCGTTGAGTGACG	0.597																																					p.N322N		.											.	SHPK-69	0			c.C966T						.						123.0	89.0	101.0					17																	3518689		2203	4300	6503	SO:0001819	synonymous_variant	23729	exon6			GCCCCCGTTGAGT	AF163573	CCDS11030.1	17p13	2008-02-08	2008-02-08	2008-02-08	ENSG00000197417	ENSG00000197417	2.7.1.14		1492	protein-coding gene	gene with protein product		605060	"""carbohydrate kinase-like"""	CARKL		10673275, 18186520	Standard	NM_013276		Approved	SHK	uc002fvz.1	Q9UHJ6	OTTHUMG00000090694	ENST00000225519.3:c.966C>T	17.37:g.3518689G>A		215	0		156	121	NM_013276	0	0	1	1	0	B2R640|Q8WUH3	Silent	SNP	ENST00000225519.3	37	CCDS11030.1																																																																																			.		0.597	SHPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207378.2		
GLTPD2	388323	hgsc.bcm.edu	37	17	4693342	4693342	+	Missense_Mutation	SNP	C	C	A	rs35910358	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr17:4693342C>A	ENST00000331264.7	+	4	680	c.627C>A	c.(625-627)gaC>gaA	p.D209E		NM_001014985.2	NP_001014985	A6NH11	GLTD2_HUMAN	glycolipid transfer protein domain containing 2	209				D -> E (in Ref. 2; AAI50537). {ECO:0000305}.		cytoplasm (GO:0005737)	glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)	4						GAGGCCCGGACGCGGGCGTGC	0.761													C|||	4904	0.979233	0.9228	1.0	5008	,	,		11019	1.0		0.998	False		,,,				2504	1.0				p.D209E		.											.	GLTPD2-68	0			c.C627A						.	C	GLU/ASP	2706,78		1314,78,0	2.0	2.0	2.0		627	0.2	0.1	17	dbSNP_126	2	6028,0		3014,0,0	no	missense	GLTPD2	NM_001014985.2	45	4328,78,0	AA,AC,CC		0.0,2.8017,0.8852	benign	209/292	4693342	8734,78	1392	3014	4406	SO:0001583	missense	388323	exon4			CCCGGACGCGGGC	BC029290	CCDS32534.1	17p13.2	2007-12-19				ENSG00000182327			33756	protein-coding gene	gene with protein product							Standard	NM_001014985		Approved		uc002fza.2	A6NH11		ENST00000331264.7:c.627C>A	17.37:g.4693342C>A	ENSP00000328070:p.Asp209Glu	0	0		6	6	NM_001014985	0	0	0	0	0	A7E2T2	Missense_Mutation	SNP	ENST00000331264.7	37	CCDS32534.1	2151	0.9848901098901099	466	0.9471544715447154	362	1.0	572	1.0	751	0.9907651715039578	C	9.155	1.017148	0.19355	0.971983	1.0	ENSG00000182327	ENST00000331264	.	.	.	4.58	0.162	0.14981	Glycolipid transfer protein domain (3);	.	.	.	.	T	0.00012	0.0000	L	0.41027	1.25	0.80722	P	0.0	B	0.22080	0.064	B	0.31614	0.133	T	0.34650	-0.9820	7	0.12103	T	0.63	-20.1635	5.889	0.18897	0.0:0.5269:0.298:0.1751	rs35910358	209	A6NH11	GLTD2_HUMAN	E	209	.	ENSP00000328070:D209E	D	+	3	2	GLTPD2	4640082	0.004000	0.15560	0.082000	0.20525	0.081000	0.17604	0.011000	0.13264	-0.068000	0.12953	0.555000	0.69702	GAC	C|0.015;A|0.985		0.761	GLTPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439781.1	NM_001014985	
NLGN2	57555	broad.mit.edu;bcgsc.ca	37	17	7311947	7311947	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr17:7311947G>A	ENST00000302926.2	+	1	446	c.373G>A	c.(373-375)Gac>Aac	p.D125N	NLGN2_ENST00000575301.1_Missense_Mutation_p.D125N	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	125					cell-cell junction maintenance (GO:0045217)|gephyrin clustering (GO:0097116)|locomotory exploration behavior (GO:0035641)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|sensory perception of pain (GO:0019233)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				GTGGTTCACCGACAACTTGGA	0.697																																					p.D125N		.											.	NLGN2-90	0			c.G373A						.						22.0	19.0	20.0					17																	7311947		2158	4190	6348	SO:0001583	missense	57555	exon1			TTCACCGACAACT	AB037787	CCDS11103.1	17p13.2	2008-07-18			ENSG00000169992	ENSG00000169992			14290	protein-coding gene	gene with protein product		606479				10767552, 10819331	Standard	NM_020795		Approved	KIAA1366	uc002ggt.1	Q8NFZ4	OTTHUMG00000108138	ENST00000302926.2:c.373G>A	17.37:g.7311947G>A	ENSP00000305288:p.Asp125Asn	102	1		88	71	NM_020795	0	0	1	5	4	Q9P2I1	Missense_Mutation	SNP	ENST00000302926.2	37	CCDS11103.1	.	.	.	.	.	.	.	.	.	.	g	11.59	1.684334	0.29872	.	.	ENSG00000169992	ENST00000302926	T	0.66280	-0.2	3.42	2.45	0.29901	Carboxylesterase, type B (1);	0.000000	0.64402	D	0.000001	T	0.28234	0.0697	N	0.02266	-0.62	0.41476	D	0.988138	B	0.12630	0.006	B	0.14023	0.01	T	0.03910	-1.0993	10	0.16896	T	0.51	.	4.4009	0.11386	0.1184:0.0:0.6608:0.2207	.	125	Q8NFZ4	NLGN2_HUMAN	N	125	ENSP00000305288:D125N	ENSP00000305288:D125N	D	+	1	0	NLGN2	7252671	0.991000	0.36638	1.000000	0.80357	0.996000	0.88848	2.218000	0.42889	1.035000	0.39972	0.436000	0.28706	GAC	.		0.697	NLGN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226941.2	NM_020795	
C17orf74	201243	broad.mit.edu	37	17	7329040	7329040	+	Silent	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr17:7329040A>G	ENST00000333870.3	+	1	107	c.33A>G	c.(31-33)agA>agG	p.R11R	C17orf74_ENST00000574034.1_Silent_p.R11R|RP11-104H15.7_ENST00000575310.1_RNA	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	11						integral component of membrane (GO:0016021)				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				ACACCGTGAGATGTTGCAATC	0.592																																					p.R11R		.											.	C17orf74-90	0			c.A33G						.						191.0	183.0	186.0					17																	7329040		1984	4152	6136	SO:0001819	synonymous_variant	201243	exon1			CGTGAGATGTTGC	BC044816	CCDS42255.1	17p13.1	2012-05-30			ENSG00000184560	ENSG00000184560			27315	protein-coding gene	gene with protein product						12477932	Standard	NM_175734		Approved		uc002ggw.3	Q0P670	OTTHUMG00000178190	ENST00000333870.3:c.33A>G	17.37:g.7329040A>G		106	0		87	4	NM_175734	0	0	3	3	0		Silent	SNP	ENST00000333870.3	37	CCDS42255.1																																																																																			.		0.592	C17orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440933.2	NM_175734	
TMEM102	284114	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	17	7339882	7339882	+	Missense_Mutation	SNP	G	G	A	rs141257669	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr17:7339882G>A	ENST00000323206.1	+	3	857	c.584G>A	c.(583-585)aGc>aAc	p.S195N	RP11-104H15.8_ENST00000576615.1_RNA|RP11-104H15.7_ENST00000575310.1_RNA|FGF11_ENST00000575235.1_5'Flank|FGF11_ENST00000293829.4_5'Flank|TMEM102_ENST00000396568.1_Missense_Mutation_p.S195N|RP11-104H15.9_ENST00000570444.1_RNA|RP11-104H15.10_ENST00000575331.1_RNA	NM_178518.2	NP_848613.1	Q8N9M5	TM102_HUMAN	transmembrane protein 102	195					apoptotic process (GO:0006915)|positive regulation of cell adhesion (GO:0045785)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of T cell migration (GO:2000406)|regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901028)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to cytokine (GO:0034097)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|protein complex (GO:0043234)				kidney(1)|lung(3)|skin(1)	5		Prostate(122;0.173)				CAGCCGCACAGCTACGTCACT	0.577																																					p.S195N		.											.	TMEM102-90	0			c.G584A						.						91.0	92.0	92.0					17																	7339882		2203	4300	6503	SO:0001583	missense	284114	exon3			CGCACAGCTACGT	AK094197	CCDS11104.1	17p13.1	2008-04-21			ENSG00000181284	ENSG00000181284			26722	protein-coding gene	gene with protein product		613936				12477932	Standard	NM_178518		Approved	FLJ36878	uc002ggx.1	Q8N9M5	OTTHUMG00000132901	ENST00000323206.1:c.584G>A	17.37:g.7339882G>A	ENSP00000315387:p.Ser195Asn	144	0		121	9	NM_178518	0	0	1	1	0	D3DTP8	Missense_Mutation	SNP	ENST00000323206.1	37	CCDS11104.1	.	.	.	.	.	.	.	.	.	.	G	2.943	-0.218497	0.06101	.	.	ENSG00000181284	ENST00000323206;ENST00000396568	T;T	0.46063	0.88;0.88	5.3	-1.6	0.08426	.	1.333950	0.04808	N	0.434760	T	0.29976	0.0750	L	0.36672	1.1	0.09310	N	1	B	0.20671	0.047	B	0.17098	0.017	T	0.15578	-1.0432	10	0.27082	T	0.32	-13.1981	5.0408	0.14458	0.4415:0.1477:0.4109:0.0	.	195	Q8N9M5	TM102_HUMAN	N	195	ENSP00000315387:S195N;ENSP00000379815:S195N	ENSP00000315387:S195N	S	+	2	0	TMEM102	7280606	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.151000	0.16283	-0.429000	0.07329	-0.136000	0.14681	AGC	G|1.000;T|0.000		0.577	TMEM102-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256405.1	NM_178518	
TP53	7157	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	7577018	7577018	+	Splice_Site	SNP	C	C	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr17:7577018C>A	ENST00000269305.4	-	8	1109		c.e8+1		TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(28)|p.0?(8)|p.A307fs*34(1)|p.L308fs*31(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TGCTTGCTTACCTCGCTTAGT	0.562		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											.	Pancreas(47;798 1329 9957 10801)	.	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	.	TP53-70225	38	Unknown(28)|Whole gene deletion(8)|Deletion - Frameshift(2)	lung(7)|breast(7)|bone(4)|upper_aerodigestive_tract(3)|central_nervous_system(3)|large_intestine(2)|stomach(2)|haematopoietic_and_lymphoid_tissue(2)|ovary(2)|biliary_tract(1)|endometrium(1)|urinary_tract(1)|skin(1)|oesophagus(1)|prostate(1)	c.919+1G>T	GRCh37	CD920913	TP53	D		.						127.0	112.0	117.0					17																	7577018		2203	4300	6503	SO:0001630	splice_region_variant	7157	exon9	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	TGCTTACCTCGCT	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.919+1G>T	17.37:g.7577018C>A		105	0		67	58	NM_000546	0	0	0	7	7	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	9.475	1.096662	0.20552	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	4.81	3.84	0.44239	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.038	0.36300	0.0:0.9:0.0:0.1	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7517743	1.000000	0.71417	0.939000	0.37840	0.223000	0.24884	4.456000	0.60081	1.259000	0.44117	0.561000	0.74099	.	.		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron
GUCY2D	3000	broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	7919549	7919549	+	Missense_Mutation	SNP	G	G	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr17:7919549G>C	ENST00000254854.4	+	18	3315	c.3165G>C	c.(3163-3165)tgG>tgC	p.W1055C		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	1055					intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			skin(1)	1		Prostate(122;0.157)				ACACTTTCTGGCTAGTGGGCA	0.677																																					p.W1055C		.											.	GUCY2D-319	0			c.G3165C						.						33.0	31.0	31.0					17																	7919549		2202	4297	6499	SO:0001583	missense	3000	exon18			TTTCTGGCTAGTG	L26921	CCDS11127.1	17p13.1	2013-06-06			ENSG00000132518	ENSG00000132518			4689	protein-coding gene	gene with protein product		600179	"""cone rod dystrophy 6"""	CORD6, LCA, GUC2D, GUC1A4		1356371, 12552567	Standard	NM_000180		Approved	retGC, RETGC-1, ROS-GC1, CYGD, LCA1	uc002gjt.2	Q02846	OTTHUMG00000108169	ENST00000254854.4:c.3165G>C	17.37:g.7919549G>C	ENSP00000254854:p.Trp1055Cys	102	1		65	41	NM_000180	0	0	0	0	0	Q6LEA7	Missense_Mutation	SNP	ENST00000254854.4	37	CCDS11127.1	.	.	.	.	.	.	.	.	.	.	G	19.71	3.878690	0.72294	.	.	ENSG00000132518	ENST00000254854	D	0.85484	-1.99	5.17	4.2	0.49525	Adenylyl cyclase class-3/4/guanylyl cyclase (3);	0.323797	0.22812	N	0.055340	D	0.94430	0.8208	H	0.95850	3.73	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95228	0.8340	10	0.87932	D	0	.	12.6236	0.56618	0.0822:0.0:0.9178:0.0	.	1055	Q02846	GUC2D_HUMAN	C	1055	ENSP00000254854:W1055C	ENSP00000254854:W1055C	W	+	3	0	GUCY2D	7860274	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.781000	0.85668	1.175000	0.42826	0.462000	0.41574	TGG	.		0.677	GUCY2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226973.2		
ALOXE3	59344	broad.mit.edu;bcgsc.ca	37	17	8013790	8013790	+	Nonsense_Mutation	SNP	G	G	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr17:8013790G>T	ENST00000448843.2	-	9	1354	c.1014C>A	c.(1012-1014)tgC>tgA	p.C338*	ALOXE3_ENST00000318227.3_Nonsense_Mutation_p.C470*|ALOXE3_ENST00000380149.1_Nonsense_Mutation_p.C494*	NM_021628.2	NP_067641.2	Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3	338	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|fat cell differentiation (GO:0045444)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|sensory perception of pain (GO:0019233)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)	hepoxilin A3 synthase activity (GO:0051120)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						GGCCGTTTAGGCAGTGGGTGG	0.687											OREG0024154	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.C470X		.											.	ALOXE3-229	0			c.C1410A						.						32.0	32.0	32.0					17																	8013790		2197	4289	6486	SO:0001587	stop_gained	59344	exon9			GTTTAGGCAGTGG	AJ269499	CCDS11130.1, CCDS54084.1	17p13.1	2009-07-10			ENSG00000179148	ENSG00000179148	1.13.11.-	"""Arachidonate lipoxygenases"""	13743	protein-coding gene	gene with protein product		607206					Standard	NM_021628		Approved	eLOX3, E-LOX	uc010vuo.2	Q9BYJ1	OTTHUMG00000108179	ENST00000448843.2:c.1014C>A	17.37:g.8013790G>T	ENSP00000400581:p.Cys338*	65	2	646	61	47	NM_001165960	0	0	0	0	0	B2R981|B7Z3W0|Q3ZB74|Q9H4F2|Q9HC22	Nonsense_Mutation	SNP	ENST00000448843.2	37	CCDS11130.1	.	.	.	.	.	.	.	.	.	.	G	38	7.098567	0.98063	.	.	ENSG00000179148	ENST00000380149;ENST00000318227;ENST00000448843	.	.	.	4.63	1.37	0.22104	.	0.478268	0.24611	N	0.037053	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-23.4622	2.8418	0.05532	0.4143:0.0:0.3841:0.2016	.	.	.	.	X	494;470;338	.	ENSP00000314879:C470X	C	-	3	2	ALOXE3	7954515	0.000000	0.05858	0.567000	0.28434	0.876000	0.50452	0.207000	0.17395	0.571000	0.29365	0.563000	0.77884	TGC	.		0.687	ALOXE3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441475.1		
ALOXE3	59344	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	8017851	8017851	+	Nonsense_Mutation	SNP	G	G	A	rs141340759		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr17:8017851G>A	ENST00000448843.2	-	6	971	c.631C>T	c.(631-633)Cga>Tga	p.R211*	ALOXE3_ENST00000318227.3_Nonsense_Mutation_p.R343*|ALOXE3_ENST00000380149.1_Nonsense_Mutation_p.R367*	NM_021628.2	NP_067641.2	Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3	211	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|fat cell differentiation (GO:0045444)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|sensory perception of pain (GO:0019233)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)	hepoxilin A3 synthase activity (GO:0051120)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)	p.R211*(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						GCTGAGTATCGAACATTGGGC	0.532																																					p.R343X		.											.	ALOXE3-229	1	Substitution - Nonsense(1)	skin(1)	c.C1027T						.						182.0	144.0	157.0					17																	8017851		2203	4300	6503	SO:0001587	stop_gained	59344	exon6			AGTATCGAACATT	AJ269499	CCDS11130.1, CCDS54084.1	17p13.1	2009-07-10			ENSG00000179148	ENSG00000179148	1.13.11.-	"""Arachidonate lipoxygenases"""	13743	protein-coding gene	gene with protein product		607206					Standard	NM_021628		Approved	eLOX3, E-LOX	uc010vuo.2	Q9BYJ1	OTTHUMG00000108179	ENST00000448843.2:c.631C>T	17.37:g.8017851G>A	ENSP00000400581:p.Arg211*	275	1		159	121	NM_001165960	0	0	0	0	0	B2R981|B7Z3W0|Q3ZB74|Q9H4F2|Q9HC22	Nonsense_Mutation	SNP	ENST00000448843.2	37	CCDS11130.1	.	.	.	.	.	.	.	.	.	.	G	40	8.125584	0.98667	.	.	ENSG00000179148	ENST00000380149;ENST00000318227;ENST00000448843	.	.	.	5.22	4.18	0.49190	.	0.347911	0.31461	N	0.007617	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-23.3578	10.5622	0.45152	0.0:0.0:0.6958:0.3042	.	.	.	.	X	367;343;211	.	ENSP00000314879:R343X	R	-	1	2	ALOXE3	7958576	0.987000	0.35691	1.000000	0.80357	0.967000	0.64934	2.739000	0.47409	2.578000	0.87016	0.655000	0.94253	CGA	.		0.532	ALOXE3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441475.1		
ALOXE3	59344	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	8017917	8017917	+	Missense_Mutation	SNP	G	G	A	rs149284623		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr17:8017917G>A	ENST00000448843.2	-	6	905	c.565C>T	c.(565-567)Cgg>Tgg	p.R189W	ALOXE3_ENST00000318227.3_Missense_Mutation_p.R321W|ALOXE3_ENST00000380149.1_Missense_Mutation_p.R345W	NM_021628.2	NP_067641.2	Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3	189	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|fat cell differentiation (GO:0045444)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|sensory perception of pain (GO:0019233)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)	hepoxilin A3 synthase activity (GO:0051120)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						GGCAGGTACCGATTCCCACTG	0.557																																					p.R321W		.											.	ALOXE3-229	0			c.C961T						.	G	TRP/ARG,TRP/ARG	0,4406		0,0,2203	85.0	76.0	79.0		961,565	1.8	1.0	17	dbSNP_134	79	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	ALOXE3	NM_001165960.1,NM_021628.2	101,101	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging	321/844,189/712	8017917	2,13004	2203	4300	6503	SO:0001583	missense	59344	exon6			GGTACCGATTCCC	AJ269499	CCDS11130.1, CCDS54084.1	17p13.1	2009-07-10			ENSG00000179148	ENSG00000179148	1.13.11.-	"""Arachidonate lipoxygenases"""	13743	protein-coding gene	gene with protein product		607206					Standard	NM_021628		Approved	eLOX3, E-LOX	uc010vuo.2	Q9BYJ1	OTTHUMG00000108179	ENST00000448843.2:c.565C>T	17.37:g.8017917G>A	ENSP00000400581:p.Arg189Trp	126	0		57	42	NM_001165960	0	0	0	0	0	B2R981|B7Z3W0|Q3ZB74|Q9H4F2|Q9HC22	Missense_Mutation	SNP	ENST00000448843.2	37	CCDS11130.1	.	.	.	.	.	.	.	.	.	.	G	19.22	3.784920	0.70222	0.0	2.33E-4	ENSG00000179148	ENST00000380149;ENST00000318227;ENST00000448843	D;D;D	0.90004	-2.6;-2.6;-2.6	5.22	1.76	0.24704	Lipoxygenase, C-terminal (2);	1.202800	0.05590	N	0.574571	D	0.89904	0.6850	L	0.53249	1.67	0.25626	N	0.986352	D;D;D	0.64830	0.977;0.994;0.994	B;P;P	0.49528	0.2;0.614;0.614	T	0.79200	-0.1901	10	0.72032	D	0.01	-16.1668	12.1047	0.53805	0.0:0.0:0.5582:0.4418	.	321;189;189	B7Z3W0;Q9BYJ1;B3KVD2	.;LOXE3_HUMAN;.	W	345;321;189	ENSP00000369494:R345W;ENSP00000314879:R321W;ENSP00000400581:R189W	ENSP00000314879:R321W	R	-	1	2	ALOXE3	7958642	0.980000	0.34600	0.996000	0.52242	0.984000	0.73092	1.189000	0.32114	0.624000	0.30286	0.655000	0.94253	CGG	G|1.000;A|0.000		0.557	ALOXE3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441475.1		
PIK3R5	23533	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	17	8783988	8783988	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr17:8783988G>A	ENST00000447110.1	-	19	2735	c.2611C>T	c.(2611-2613)Ccc>Tcc	p.P871S	PIK3R5_ENST00000581552.1_Missense_Mutation_p.P871S|PIK3R5_ENST00000584803.1_Missense_Mutation_p.P870S	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	871					blood coagulation (GO:0007596)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|G-protein beta/gamma-subunit complex binding (GO:0031683)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						GTCATGATGGGCAGGCAGAGA	0.647																																					p.P871S	NSCLC(18;589 615 7696 20311 50332)	.											.	PIK3R5-1146	0			c.C2611T						.						63.0	57.0	59.0					17																	8783988		2203	4300	6503	SO:0001583	missense	23533	exon19			TGATGGGCAGGCA	AF128881	CCDS11147.1, CCDS73986.1	17p13.1	2011-10-13	2008-02-04		ENSG00000141506	ENSG00000141506			30035	protein-coding gene	gene with protein product		611317				12507995	Standard	NM_014308		Approved	P101-PI3K, p101	uc002glt.3	Q8WYR1	OTTHUMG00000108197	ENST00000447110.1:c.2611C>T	17.37:g.8783988G>A	ENSP00000392812:p.Pro871Ser	67	0		57	44	NM_001142633	0	0	0	0	0	B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	Missense_Mutation	SNP	ENST00000447110.1	37	CCDS11147.1	.	.	.	.	.	.	.	.	.	.	G	15.62	2.886605	0.51908	.	.	ENSG00000141506	ENST00000269300;ENST00000447110	D	0.87491	-2.26	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	D	0.90421	0.7001	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91768	0.5425	10	0.87932	D	0	-38.6755	18.2477	0.89992	0.0:0.0:1.0:0.0	.	871	Q8WYR1	PI3R5_HUMAN	S	871	ENSP00000392812:P871S	ENSP00000269300:P871S	P	-	1	0	PIK3R5	8724713	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.979000	0.93455	2.409000	0.81822	0.561000	0.74099	CCC	.		0.647	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000227003.2	NM_014308	
MYH13	8735	ucsc.edu;bcgsc.ca;mdanderson.org	37	17	10213064	10213064	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr17:10213064G>A	ENST00000418404.3	-	33	4903	c.4740C>T	c.(4738-4740)gtC>gtT	p.V1580V	MYH13_ENST00000252172.4_Silent_p.V1580V|RP11-401O9.4_ENST00000609088.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1580					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CCTTCTCAATGACCTTGCGGT	0.552																																					p.V1580V		.											.	MYH13-6	0			c.C4740T						.						45.0	46.0	46.0					17																	10213064		2081	4231	6312	SO:0001819	synonymous_variant	8735	exon34			CTCAATGACCTTG	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.4740C>T	17.37:g.10213064G>A		127	2		67	48	NM_003802	0	0	0	0	0	O95252|Q9P0U8	Silent	SNP	ENST00000418404.3	37	CCDS45613.1																																																																																			.		0.552	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802	
DNAH9	1770	bcgsc.ca	37	17	11607687	11607687	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr17:11607687G>A	ENST00000262442.4	+	25	5387	c.5319G>A	c.(5317-5319)cgG>cgA	p.R1773R	DNAH9_ENST00000454412.2_Silent_p.R1773R	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1773	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGGGAGACCGGCAGAAGATTA	0.507																																					p.R1773R		.											.	DNAH9-168	0			c.G5319A						.						99.0	93.0	95.0					17																	11607687		2203	4300	6503	SO:0001819	synonymous_variant	1770	exon25			AGACCGGCAGAAG	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.5319G>A	17.37:g.11607687G>A		138	0		64	4	NM_001372	0	0	0	0	0	A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	ENST00000262442.4	37	CCDS11160.1																																																																																			.		0.507	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372	
TRPV2	51393	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	16336945	16336945	+	Missense_Mutation	SNP	C	C	T	rs554857511		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr17:16336945C>T	ENST00000338560.7	+	13	2446	c.2047C>T	c.(2047-2049)Cgg>Tgg	p.R683W	TRPV2_ENST00000577397.1_Missense_Mutation_p.R253W	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	683					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|positive regulation of axon extension (GO:0045773)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|response to temperature stimulus (GO:0009266)|sensory perception (GO:0007600)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|growth cone membrane (GO:0032584)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|ion channel activity (GO:0005216)|ion transmembrane transporter activity (GO:0015075)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		GAAGAAGCAGCGGGCAGGTGT	0.597													C|||	1	0.000199681	0.0	0.0	5008	,	,		21188	0.001		0.0	False		,,,				2504	0.0				p.R683W		.											.	TRPV2-91	0			c.C2047T						.						150.0	129.0	136.0					17																	16336945		2203	4300	6503	SO:0001583	missense	51393	exon13			AAGCAGCGGGCAG	AF129112	CCDS32576.1	17p11.2	2013-01-10			ENSG00000187688	ENSG00000187688		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18082	protein-coding gene	gene with protein product		606676				10201375, 16382100	Standard	NM_016113		Approved	VRL, VRL-1, VRL1	uc002gpy.3	Q9Y5S1	OTTHUMG00000058989	ENST00000338560.7:c.2047C>T	17.37:g.16336945C>T	ENSP00000342222:p.Arg683Trp	133	0		88	68	NM_016113	0	0	9	92	83	A6NML2|A8K0Z0|Q9Y670	Missense_Mutation	SNP	ENST00000338560.7	37	CCDS32576.1	.	.	.	.	.	.	.	.	.	.	C	8.782	0.928548	0.18131	.	.	ENSG00000187688	ENST00000338560	D	0.91295	-2.82	5.79	3.72	0.42706	.	0.102760	0.64402	D	0.000003	D	0.93012	0.7776	L	0.52126	1.63	0.44807	D	0.997811	D	0.89917	1.0	D	0.79108	0.992	D	0.92721	0.6191	10	0.87932	D	0	-22.6944	12.5003	0.55952	0.4646:0.5354:0.0:0.0	.	683	Q9Y5S1	TRPV2_HUMAN	W	683	ENSP00000342222:R683W	ENSP00000342222:R683W	R	+	1	2	TRPV2	16277670	0.142000	0.22610	0.915000	0.36163	0.166000	0.22503	0.863000	0.27913	0.707000	0.31934	0.650000	0.86243	CGG	.		0.597	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130464.2	NM_016113	
CCDC144A	9720	hgsc.bcm.edu	37	17	16630989	16630989	+	Frame_Shift_Del	DEL	A	A	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr17:16630989delA	ENST00000360524.8	+	9	2116	c.2040delA	c.(2038-2040)acafs	p.T680fs	CCDC144A_ENST00000399273.1_Frame_Shift_Del_p.T680fs|CCDC144A_ENST00000456009.1_Frame_Shift_Del_p.T400fs|RP11-219A15.1_ENST00000448331.3_Frame_Shift_Del_p.T680fs|CCDC144A_ENST00000443444.2_Frame_Shift_Del_p.T680fs	NM_014695.1	NP_055510.1	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	680																	TATCTGAAACAAAAAAGACAA	0.299																																					p.T680fs		.											.	.	0			c.2040delA						.						2.0	2.0	2.0					17																	16630989		1109	2862	3971	SO:0001589	frameshift_variant	9720	exon9			TGAAACAAAAAAG	BC133019	CCDS45621.1	17p11.2	2008-10-23			ENSG00000170160	ENSG00000170160			29072	protein-coding gene	gene with protein product						9628581, 11997339	Standard	NM_014695		Approved	KIAA0565, FLJ43983	uc002gqk.1	A2RUR9	OTTHUMG00000059178	ENST00000360524.8:c.2040delA	17.37:g.16630989delA	ENSP00000353717:p.Thr680fs	638	0		442	104	NM_014695	0	0	0	0	0	O60311|Q6ZU57	Frame_Shift_Del	DEL	ENST00000360524.8	37	CCDS45621.1																																																																																			.		0.299	CCDC144A-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444093.1		
MYO15A	51168	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	18022386	18022386	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr17:18022386G>A	ENST00000205890.5	+	2	610	c.272G>A	c.(271-273)cGc>cAc	p.R91H		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	91					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					ACGCAGATGCGCATGGGCAAG	0.662																																					p.R91H		.											.	MYO15A-97	0			c.G272A						.						12.0	14.0	14.0					17																	18022386		1983	4131	6114	SO:0001583	missense	51168	exon2			AGATGCGCATGGG	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.272G>A	17.37:g.18022386G>A	ENSP00000205890:p.Arg91His	137	0		161	123	NM_016239	0	0	0	0	0	B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	G	12.61	1.988323	0.35036	.	.	ENSG00000091536	ENST00000205890	D	0.91521	-2.86	5.05	5.05	0.67936	.	.	.	.	.	T	0.80385	0.4613	L	0.29908	0.895	0.80722	D	1	P	0.44946	0.846	B	0.26517	0.07	T	0.82114	-0.0617	9	0.52906	T	0.07	.	10.1067	0.42537	0.1307:0.0:0.8693:0.0	.	91	Q9UKN7	MYO15_HUMAN	H	91	ENSP00000205890:R91H	ENSP00000205890:R91H	R	+	2	0	MYO15A	17963111	0.968000	0.33430	0.978000	0.43139	0.411000	0.31082	2.808000	0.47963	2.333000	0.79357	0.561000	0.74099	CGC	.		0.662	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239	
MYO15A	51168	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	18025311	18025311	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr17:18025311C>T	ENST00000205890.5	+	2	3535	c.3197C>T	c.(3196-3198)gCt>gTt	p.A1066V		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1066					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TACCCACTGGCTGCGTGTGAC	0.642																																					p.A1066V		.											.	MYO15A-97	0			c.C3197T						.						91.0	98.0	95.0					17																	18025311		1994	4166	6160	SO:0001583	missense	51168	exon2			CACTGGCTGCGTG	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.3197C>T	17.37:g.18025311C>T	ENSP00000205890:p.Ala1066Val	68	0		49	34	NM_016239	0	0	0	0	0	B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	c	9.971	1.225575	0.22457	.	.	ENSG00000091536	ENST00000205890	D	0.86769	-2.17	4.93	1.49	0.22878	.	.	.	.	.	T	0.72137	0.3423	N	0.14661	0.345	0.09310	N	0.999998	B	0.06786	0.001	B	0.04013	0.001	T	0.58165	-0.7684	9	0.31617	T	0.26	.	3.6817	0.08313	0.194:0.5858:0.0:0.2202	.	1066	Q9UKN7	MYO15_HUMAN	V	1066	ENSP00000205890:A1066V	ENSP00000205890:A1066V	A	+	2	0	MYO15A	17966036	0.014000	0.17966	0.561000	0.28357	0.392000	0.30506	0.746000	0.26275	1.032000	0.39892	0.561000	0.74099	GCT	.		0.642	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239	
CCDC144B	284047	hgsc.bcm.edu	37	17	18491040	18491040	+	RNA	DEL	T	T	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr17:18491040delT	ENST00000442583.1	-	0	992							Q3MJ40	C144B_HUMAN	coiled-coil domain containing 144B (pseudogene)											NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(6)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	36						TAATTTTGTCTTTTTTGTTTC	0.294																																					.		.											.	CCDC144B-70	0			.						.						1.0	1.0	1.0					17																	18491040		18	34	52			284047	.			TTTGTCTTTTTTG	AK093811		17p11.2	2012-11-19	2011-09-02		ENSG00000154874	ENSG00000154874			26704	pseudogene	pseudogene			"""coiled-coil domain containing 144B"""			11997339	Standard	NR_036647		Approved	FLJ36492	uc002guc.2	Q3MJ40	OTTHUMG00000059531		17.37:g.18491040delT		555	0		407	118	.	0	0	0	0	0	Q6P5Q3|Q8N200	RNA	DEL	ENST00000442583.1	37																																																																																				.		0.294	CCDC144B-006	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000132102.1	NM_182568	
CCDC144NL	339184	ucsc.edu;bcgsc.ca	37	17	20799304	20799304	+	Silent	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr17:20799304T>C	ENST00000327925.5	-	1	149	c.30A>G	c.(28-30)ggA>ggG	p.G10G	RP11-344E13.3_ENST00000583962.1_RNA|RNU6-1178P_ENST00000516674.1_RNA|RP11-344E13.3_ENST00000577860.1_RNA|RP11-344E13.3_ENST00000582324.1_RNA|RP11-344E13.3_ENST00000439794.2_RNA|RP11-344E13.3_ENST00000417232.2_RNA|RP11-344E13.3_ENST00000577537.1_RNA	NM_001004306.1	NP_001004306.1	Q6NUI1	C144L_HUMAN	coiled-coil domain containing 144 family, N-terminal like	10										large_intestine(3)|lung(3)|skin(1)	7						CCCCAGCCCCTCCCCGCTTTT	0.642											OREG0024248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.G10G		.											.	CCDC144NL-90	0			c.A30G						.						22.0	24.0	23.0					17																	20799304		2203	4299	6502	SO:0001819	synonymous_variant	339184	exon1			AGCCCCTCCCCGC		CCDS32591.1	17p11.2	2009-01-15			ENSG00000205212	ENSG00000205212			33735	protein-coding gene	gene with protein product							Standard	NM_001004306		Approved	MGC87631	uc002gyf.3	Q6NUI1	OTTHUMG00000132271	ENST00000327925.5:c.30A>G	17.37:g.20799304T>C		74	3	743	46	33	NM_001004306	0	0	0	1	1		Silent	SNP	ENST00000327925.5	37	CCDS32591.1																																																																																			.		0.642	CCDC144NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255361.2	NM_001004306	
TMEM199	147007	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	26687565	26687565	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr17:26687565G>A	ENST00000292114.3	+	4	479	c.389G>A	c.(388-390)gGt>gAt	p.G130D	CTB-96E2.7_ENST00000577850.1_RNA|CTB-96E2.3_ENST00000591482.1_RNA|MIR4723_ENST00000585070.1_RNA|TMEM199_ENST00000395404.3_5'UTR|TMEM199_ENST00000509083.1_Missense_Mutation_p.G130D	NM_152464.1	NP_689677.1	Q8N511	TM199_HUMAN	transmembrane protein 199	130						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		ACAAGACATGGTGGGACTCTC	0.473																																					p.G130D		.											.	TMEM199-68	0			c.G389A						.						104.0	96.0	99.0					17																	26687565		2203	4300	6503	SO:0001583	missense	147007	exon4			GACATGGTGGGAC	AY074907	CCDS11228.1	17q11.2	2007-12-17	2007-12-17	2007-12-17	ENSG00000244045	ENSG00000244045			18085	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 32"""	C17orf32			Standard	NM_152464		Approved	MGC45714	uc002hba.3	Q8N511	OTTHUMG00000132498	ENST00000292114.3:c.389G>A	17.37:g.26687565G>A	ENSP00000292114:p.Gly130Asp	81	1		38	33	NM_152464	0	0	2	16	14		Missense_Mutation	SNP	ENST00000292114.3	37	CCDS11228.1	.	.	.	.	.	.	.	.	.	.	G	15.20	2.761587	0.49468	.	.	ENSG00000244045	ENST00000292114;ENST00000509083;ENST00000395404	T;T	0.30981	1.51;1.51	5.85	2.56	0.30785	.	0.440276	0.27323	N	0.019889	T	0.12774	0.0310	N	0.08118	0	0.25285	N	0.989402	P;B	0.48589	0.912;0.213	B;B	0.43478	0.421;0.061	T	0.10405	-1.0631	10	0.11485	T	0.65	-3.1373	5.2152	0.15338	0.2343:0.1556:0.6101:0.0	.	130;130	E9PBQ3;Q8N511	.;TM199_HUMAN	D	130;130;48	ENSP00000292114:G130D;ENSP00000427614:G130D	ENSP00000292114:G130D	G	+	2	0	TMEM199	23711692	0.025000	0.19082	0.990000	0.47175	0.519000	0.34347	1.057000	0.30492	1.487000	0.48415	-0.140000	0.14226	GGT	.		0.473	TMEM199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255676.2	NM_152464	
RAB34	83871	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	27041696	27041696	+	Missense_Mutation	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr17:27041696T>C	ENST00000395245.3	-	10	1371	c.745A>G	c.(745-747)Act>Gct	p.T249A	RAB34_ENST00000395242.2_Missense_Mutation_p.T250A|RAB34_ENST00000415040.2_Missense_Mutation_p.T227A|RAB34_ENST00000450529.1_Missense_Mutation_p.T241A|PROCA1_ENST00000581289.1_5'Flank|RAB34_ENST00000436730.3_Missense_Mutation_p.T249A|RAB34_ENST00000301043.6_Missense_Mutation_p.T249A|RAB34_ENST00000447716.1_Missense_Mutation_p.T306A|RAB34_ENST00000395243.3_Missense_Mutation_p.T241A|RAB34_ENST00000453384.3_Intron|PROCA1_ENST00000301039.2_5'Flank	NM_001256281.1|NM_031934.5	NP_001243210.1|NP_114140.4	Q9BZG1	RAB34_HUMAN	RAB34, member RAS oncogene family	249					antigen processing and presentation (GO:0019882)|Golgi to plasma membrane protein transport (GO:0043001)|lysosome localization (GO:0032418)|phagosome maturation (GO:0090382)|phagosome-lysosome fusion (GO:0090385)|protein localization to plasma membrane (GO:0072659)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|Golgi stack (GO:0005795)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|vesicle (GO:0031982)	GTP binding (GO:0005525)			endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|skin(2)	14	Lung NSC(42;0.00431)					TTGCTGGCAGTTAGGTAGAGG	0.547																																					p.T306A	Pancreas(175;216 2049 29940 32498 41589)	.											.	RAB34-227	0			c.A916G						.						104.0	92.0	96.0					17																	27041696		2203	4300	6503	SO:0001583	missense	83871	exon11			TGGCAGTTAGGTA	AF322067	CCDS11240.1, CCDS45636.1, CCDS54101.1, CCDS58536.1	17q11.2	2008-07-18			ENSG00000109113	ENSG00000109113		"""RAB, member RAS oncogene"""	16519	protein-coding gene	gene with protein product		610917				12446704	Standard	NM_031934		Approved	RAB39, RAH	uc010was.1	P0DI83	OTTHUMG00000132680	ENST00000395245.3:c.745A>G	17.37:g.27041696T>C	ENSP00000378666:p.Thr249Ala	162	1		116	94	NM_001144943	0	0	14	14	0	B4E3A0|E9PEJ9|Q5BJE6|Q8NCJ8|Q96AR4	Missense_Mutation	SNP	ENST00000395245.3	37	CCDS11240.1	.	.	.	.	.	.	.	.	.	.	T	11.03	1.520273	0.27211	.	.	ENSG00000109113	ENST00000447716;ENST00000301043;ENST00000395243;ENST00000415040;ENST00000450529;ENST00000395242;ENST00000395245	T;T;T;T;T;T	0.70045	-0.04;0.0;-0.45;0.33;0.0;0.0	5.62	5.62	0.85841	.	0.164894	0.53938	D	0.000052	T	0.47432	0.1445	N	0.24115	0.695	0.28917	N	0.8923490000000001	B;B;B;B;B	0.11235	0.0;0.004;0.004;0.001;0.001	B;B;B;B;B	0.09377	0.001;0.004;0.002;0.002;0.001	T	0.52697	-0.8541	9	0.11794	T	0.64	-16.8334	8.9191	0.35601	0.2588:0.0:0.0:0.7411	.	227;241;264;250;249	E9PEJ9;Q9BZG1-2;B4DNC0;A8MYQ9;Q9BZG1	.;.;.;.;RAB34_HUMAN	A	306;249;241;227;264;250;249	ENSP00000410403:T306A;ENSP00000301043:T249A;ENSP00000378664:T241A;ENSP00000410279:T227A;ENSP00000378663:T250A;ENSP00000378666:T249A	ENSP00000301043:T249A	T	-	1	0	RAB34	24065823	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	1.105000	0.31086	2.134000	0.65973	0.460000	0.39030	ACT	.		0.547	RAB34-018	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345906.1	NM_031934	
NF1	4763	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	29528059	29528059	+	Missense_Mutation	SNP	T	T	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr17:29528059T>A	ENST00000358273.4	+	10	1450	c.1067T>A	c.(1066-1068)cTg>cAg	p.L356Q	NF1_ENST00000356175.3_Missense_Mutation_p.L356Q|NF1_ENST00000431387.4_Missense_Mutation_p.L356Q	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	356					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(6)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TTATAGAACCTGCTTTTTAAT	0.383			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																											p.L356Q		.	yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	.	NF1-3353	14	Whole gene deletion(8)|Unknown(6)	soft_tissue(7)|autonomic_ganglia(3)|central_nervous_system(3)|lung(1)	c.T1067A						.						65.0	65.0	65.0					17																	29528059		2203	4299	6502	SO:0001583	missense	4763	exon10	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	AGAACCTGCTTTT		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.1067T>A	17.37:g.29528059T>A	ENSP00000351015:p.Leu356Gln	62	0		36	26	NM_001128147	0	0	0	0	0	O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.219178	0.79464	.	.	ENSG00000196712	ENST00000431387;ENST00000358273;ENST00000356175;ENST00000456735	T;T;T;T	0.11495	2.77;3.02;3.16;2.77	5.63	5.63	0.86233	Armadillo-type fold (1);	0.068454	0.64402	D	0.000011	T	0.35480	0.0933	M	0.77820	2.39	0.80722	D	1	D;P;D;D;D	0.89917	1.0;0.911;1.0;1.0;1.0	D;P;D;D;D	0.91635	0.99;0.718;0.987;0.999;0.999	T	0.10520	-1.0626	10	0.62326	D	0.03	.	15.8344	0.78787	0.0:0.0:0.0:1.0	.	356;356;356;356;356	E1P657;P21359-2;P21359;Q14931;P21359-3	.;.;NF1_HUMAN;.;.	Q	356;356;356;22	ENSP00000412921:L356Q;ENSP00000351015:L356Q;ENSP00000348498:L356Q;ENSP00000389907:L22Q	ENSP00000348498:L356Q	L	+	2	0	NF1	26552185	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	5.864000	0.69575	2.147000	0.66899	0.482000	0.46254	CTG	.		0.383	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	
NF1	4763	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	29662047	29662047	+	Nonsense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr17:29662047C>T	ENST00000358273.4	+	40	6387	c.6004C>T	c.(6004-6006)Cag>Tag	p.Q2002*	NF1_ENST00000417592.2_5'Flank|NF1_ENST00000356175.3_Nonsense_Mutation_p.Q1981*|NF1_ENST00000581113.2_3'UTR|NF1_ENST00000444181.2_5'Flank	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2002					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AAGCCTTGGGCAGGTATTGAG	0.398			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																											p.Q2002X		.	yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	.	NF1-3353	11	Whole gene deletion(8)|Unknown(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	c.C6004T	GRCh37	CS054215	NF1	S		.						64.0	57.0	60.0					17																	29662047		2203	4300	6503	SO:0001587	stop_gained	4763	exon40	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	CTTGGGCAGGTAT		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.6004C>T	17.37:g.29662047C>T	ENSP00000351015:p.Gln2002*	59	0		41	28	NM_001042492	0	0	0	0	0	O00662|Q14284|Q14930|Q14931|Q9UMK3	Nonsense_Mutation	SNP	ENST00000358273.4	37	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	C	49	15.313927	0.99829	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	.	19.4882	0.95039	0.0:1.0:0.0:0.0	.	.	.	.	X	2002;1981;1647	.	ENSP00000348498:Q1981X	Q	+	1	0	NF1	26686173	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.322000	0.79097	2.620000	0.88729	0.557000	0.71058	CAG	.		0.398	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	
RHOT1	55288	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	30535210	30535210	+	Missense_Mutation	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr17:30535210T>C	ENST00000333942.6	+	18	1860	c.1621T>C	c.(1621-1623)Tca>Cca	p.S541P	RHOT1_ENST00000354266.3_Missense_Mutation_p.S520P|RHOT1_ENST00000545287.2_Missense_Mutation_p.S541P|RHOT1_ENST00000394692.2_Missense_Mutation_p.S541P|RHOT1_ENST00000583994.1_Missense_Mutation_p.S414P|RHOT1_ENST00000358365.3_Missense_Mutation_p.S541P|RHOT1_ENST00000581094.1_Missense_Mutation_p.S541P	NM_018307.3	NP_060777.3	Q8IXI2	MIRO1_HUMAN	ras homolog family member T1	541	Miro 2.				cellular homeostasis (GO:0019725)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrion transport along microtubule (GO:0047497)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)				ATACAGTATTTCACCTACTGA	0.393																																					p.S541P		.											.	RHOT1-93	0			c.T1621C						.						139.0	128.0	132.0					17																	30535210		2203	4300	6503	SO:0001583	missense	55288	exon18			AGTATTTCACCTA	AJ517412	CCDS32610.1, CCDS32611.1, CCDS32612.1, CCDS74030.1, CCDS74031.1	17q11.2-q12	2013-01-10	2012-02-27	2004-03-24		ENSG00000126858		"""EF-hand domain containing"""	21168	protein-coding gene	gene with protein product	"""mitochondrial Rho (MIRO) GTPase 1"""	613888	"""ras homolog gene family, member T1"""	ARHT1		12482879	Standard	NM_001033567		Approved	MIRO-1, FLJ11040	uc002hgw.3	Q8IXI2		ENST00000333942.6:c.1621T>C	17.37:g.30535210T>C	ENSP00000334724:p.Ser541Pro	133	0		74	53	NM_001033568	0	0	1	62	61	A4FVB6|A6NFV0|B4DG48|J9JIH9|Q6NUR3|Q6P9F8|Q6PJG1|Q6YMW8|Q86UB0|Q8IW28|Q8IXJ7|Q9H067|Q9H9N8|Q9NUZ2	Missense_Mutation	SNP	ENST00000333942.6	37	CCDS32612.1	.	.	.	.	.	.	.	.	.	.	T	12.01	1.808719	0.31961	.	.	ENSG00000126858	ENST00000358365;ENST00000354266;ENST00000394692;ENST00000333942	T;T;T	0.23950	1.88;1.88;1.88	5.93	5.93	0.95920	MIRO (1);	0.314188	0.35262	N	0.003325	T	0.25044	0.0608	L	0.31926	0.97	0.80722	D	1	B;B;B;B	0.29481	0.245;0.002;0.009;0.007	B;B;B;B	0.33339	0.162;0.005;0.012;0.017	T	0.02975	-1.1087	10	0.42905	T	0.14	-7.3435	16.3766	0.83401	0.0:0.0:0.0:1.0	.	541;541;541;541	Q8IXI2-2;Q8IXI2;Q8IXI2-5;Q8IXI2-3	.;MIRO1_HUMAN;.;.	P	541	ENSP00000351132:S541P;ENSP00000378184:S541P;ENSP00000334724:S541P	ENSP00000334724:S541P	S	+	1	0	RHOT1	27559323	1.000000	0.71417	1.000000	0.80357	0.731000	0.41821	5.073000	0.64395	2.263000	0.75096	0.533000	0.62120	TCA	.		0.393	RHOT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000447097.1	NM_018307	
ZNF830	91603	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	33289639	33289639	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr17:33289639G>A	ENST00000361952.3	+	1	1091	c.1054G>A	c.(1054-1056)Gat>Aat	p.D352N	CCT6B_ENST00000421975.3_5'Flank|CCT6B_ENST00000436961.3_5'Flank|CCT6B_ENST00000314144.5_5'Flank	NM_052857.3	NP_443089.3	Q96NB3	ZN830_HUMAN	zinc finger protein 830	352					blastocyst growth (GO:0001832)|mitotic nuclear division (GO:0007067)|nuclear cell cycle DNA replication (GO:0033260)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|liver(2)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(249;0.17)				TGCTGACAGCGATGATGAGGG	0.418																																					p.D352N		.											.	ZNF830-89	0			c.G1054A						.						110.0	131.0	124.0					17																	33289639		2162	4274	6436	SO:0001583	missense	91603	exon1			GACAGCGATGATG	AK055707	CCDS32618.1	17q12	2013-10-23	2008-03-25	2008-03-25	ENSG00000198783	ENSG00000198783			28291	protein-coding gene	gene with protein product	"""orphan maintenance of genome 1"""		"""coiled-coil domain containing 16"""	CCDC16		23066043	Standard	NM_052857		Approved	MGC20398, OMCG1	uc002hih.4	Q96NB3	OTTHUMG00000179771	ENST00000361952.3:c.1054G>A	17.37:g.33289639G>A	ENSP00000354518:p.Asp352Asn	65	0		37	27	NM_052857	0	0	1	13	12	Q96F60|Q96GZ5|Q9BU38	Missense_Mutation	SNP	ENST00000361952.3	37	CCDS32618.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.794767	0.90453	.	.	ENSG00000198783	ENST00000361952	T	0.22539	1.95	6.01	5.01	0.66863	.	0.127206	0.52532	D	0.000066	T	0.33030	0.0849	L	0.36672	1.1	0.50632	D	0.999885	D	0.76494	0.999	D	0.64144	0.922	T	0.00918	-1.1515	10	0.54805	T	0.06	-20.5597	13.4535	0.61184	0.0:0.1556:0.8444:0.0	.	352	Q96NB3	ZN830_HUMAN	N	352	ENSP00000354518:D352N	ENSP00000354518:D352N	D	+	1	0	ZNF830	30313752	1.000000	0.71417	0.990000	0.47175	0.998000	0.95712	6.911000	0.75746	2.860000	0.98153	0.655000	0.94253	GAT	.		0.418	ZNF830-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448018.1	NM_052857	
UNC45B	146862	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	33513335	33513335	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr17:33513335G>A	ENST00000268876.5	+	20	2650	c.2553G>A	c.(2551-2553)gaG>gaA	p.E851E	UNC45B_ENST00000433649.1_Silent_p.E849E|UNC45B_ENST00000591048.1_Silent_p.E770E|RP11-799D4.2_ENST00000590144.1_RNA|UNC45B_ENST00000394570.2_Silent_p.E849E|UNC45B_ENST00000378449.1_Silent_p.E770E	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	851					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				AGTGGTTGGAGATCCTCCAGC	0.567																																					p.E851E		.											.	UNC45B-157	0			c.G2553A						.						82.0	82.0	82.0					17																	33513335		2203	4300	6503	SO:0001819	synonymous_variant	146862	exon20			GTTGGAGATCCTC	AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161			14304	protein-coding gene	gene with protein product		611220	"""cardiomyopathy associated 4"""	CMYA4		12356907	Standard	NM_001267052		Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.2553G>A	17.37:g.33513335G>A		118	1		70	51	NM_173167	0	0	0	0	0	Q495Q8|Q495Q9	Silent	SNP	ENST00000268876.5	37	CCDS11292.1																																																																																			.		0.567	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256458.2	NM_173167	
PSMB3	5691	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	36912138	36912138	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr17:36912138C>T	ENST00000225426.4	+	3	282	c.191C>T	c.(190-192)gCc>gTc	p.A64V	RNU6-866P_ENST00000516469.1_RNA	NM_002795.2	NP_002786.2	P49720	PSB3_HUMAN	proteasome (prosome, macropain) subunit, beta type, 3	64					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	threonine-type endopeptidase activity (GO:0004298)			endometrium(2)|large_intestine(1)|lung(1)	4						TACCTCAGTGCCCAGCGCCTC	0.468																																					p.A64V		.											.	PSMB3-90	0			c.C191T						.						96.0	84.0	88.0					17																	36912138		2203	4300	6503	SO:0001583	missense	5691	exon3			TCAGTGCCCAGCG	BC013008	CCDS11328.1	17q12	2014-05-06			ENSG00000108294	ENSG00000277791		"""Proteasome (prosome, macropain) subunits"""	9540	protein-coding gene	gene with protein product		602176				7918633	Standard	NM_002795		Approved	HC10-II, MGC4147	uc002hqr.3	P49720	OTTHUMG00000188503	ENST00000225426.4:c.191C>T	17.37:g.36912138C>T	ENSP00000225426:p.Ala64Val	171	0		106	78	NM_002795	0	0	0	0	0	P31147|Q0P6J7|Q96E27	Missense_Mutation	SNP	ENST00000225426.4	37	CCDS11328.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.230642	0.58777	.	.	ENSG00000108294	ENST00000225426	T	0.20069	2.1	5.04	5.04	0.67666	.	0.114479	0.64402	D	0.000014	T	0.19248	0.0462	L	0.50333	1.59	0.48830	D	0.999719	P	0.36733	0.567	B	0.30716	0.119	T	0.04386	-1.0955	10	0.18276	T	0.48	.	17.1345	0.86735	0.0:1.0:0.0:0.0	.	64	P49720	PSB3_HUMAN	V	64	ENSP00000225426:A64V	ENSP00000225426:A64V	A	+	2	0	PSMB3	34165664	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	7.477000	0.81069	2.614000	0.88457	0.655000	0.94253	GCC	.		0.468	PSMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256810.2	NM_002795	
GJD3	125111	hgsc.bcm.edu	37	17	38519449	38519449	+	Missense_Mutation	SNP	C	C	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr17:38519449C>G	ENST00000578689.1	-	1	618	c.619G>C	c.(619-621)Gcc>Ccc	p.A207P	CTD-2267D19.3_ENST00000578774.1_Silent_p.G87G|GJD3_ENST00000337376.4_Missense_Mutation_p.A207P	NM_152219.3	NP_689343.3	Q8N144	CXD3_HUMAN	gap junction protein, delta 3, 31.9kDa	207					cell communication (GO:0007154)|gap junction assembly (GO:0016264)	cell surface (GO:0009986)|connexon complex (GO:0005922)|integral component of plasma membrane (GO:0005887)	ion channel activity (GO:0005216)						Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00143)			CCCAGCTCGGCTACGCTGAGC	0.692																																					p.A207P		.											.	.	0			c.G619C						.						2.0	2.0	2.0					17																	38519449		1299	2832	4131	SO:0001583	missense	125111	exon1			GCTCGGCTACGCT	AF514298	CCDS58547.1	17q21.1	2012-04-19	2007-11-06	2007-11-06	ENSG00000183153	ENSG00000183153		"""Ion channels / Gap junction proteins (connexins)"""	19147	protein-coding gene	gene with protein product	"""connexin 31.9"""	607425	"""gap junction protein, chi 1, 31.9kDa"""	GJC1		12176752	Standard	NM_152219		Approved	CX31.9, GJA11, Cx30.2	uc010cwz.3	Q8N144		ENST00000578689.1:c.619G>C	17.37:g.38519449C>G	ENSP00000463752:p.Ala207Pro	2	0		10	9	NM_152219	0	0	1	1	0	Q6ZUW6	Missense_Mutation	SNP	ENST00000578689.1	37	CCDS58547.1	.	.	.	.	.	.	.	.	.	.	C	11.57	1.679536	0.29783	.	.	ENSG00000183153	ENST00000337376	D	0.96011	-3.88	3.26	2.28	0.28536	Gap junction protein, cysteine-rich domain (1);	0.814540	0.10309	U	0.690167	D	0.92097	0.7495	L	0.49455	1.56	0.25020	N	0.991344	B	0.10296	0.003	B	0.12156	0.007	D	0.84630	0.0689	10	0.59425	D	0.04	.	5.0123	0.14319	0.2056:0.6771:0.0:0.1174	.	207	Q8N144	CXD3_HUMAN	P	207	ENSP00000336832:A207P	ENSP00000336832:A207P	A	-	1	0	GJD3	35772975	0.001000	0.12720	1.000000	0.80357	0.641000	0.38312	0.167000	0.16602	0.580000	0.29522	0.407000	0.27541	GCC	.		0.692	GJD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447449.1	NM_152219	
KRTAP1-3	81850	broad.mit.edu;bcgsc.ca	37	17	39190723	39190723	+	Silent	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr17:39190723A>G	ENST00000344363.5	-	1	384	c.351T>C	c.(349-351)ggT>ggC	p.G117G		NM_030966.1	NP_112228.1	Q8IUG1	KRA13_HUMAN	keratin associated protein 1-3	127						keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(6)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCAGGCAGGTACCCTCCACAC	0.667																																					p.G117G		.											.	.	0			c.T351C						.						23.0	29.0	27.0					17																	39190723		2085	4179	6264	SO:0001819	synonymous_variant	81850	exon1			GCAGGTACCCTCC	AJ406927	CCDS42323.1	17q21.2	2013-06-20			ENSG00000221880	ENSG00000221880		"""Keratin associated proteins"""	16771	protein-coding gene	gene with protein product		608820				11279113	Standard	NM_030966		Approved	KAP1.3	uc002hvv.3	Q8IUG1	OTTHUMG00000133583	ENST00000344363.5:c.351T>C	17.37:g.39190723A>G		182	1		169	14	NM_030966	0	0	0	0	0	Q07628|Q8IUG0|Q9BYS2	Silent	SNP	ENST00000344363.5	37	CCDS42323.1																																																																																			.		0.667	KRTAP1-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257687.1		
KRTAP4-3	85290	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	17	39324164	39324164	+	Silent	SNP	G	G	T	rs12600645		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr17:39324164G>T	ENST00000391356.2	-	1	260	c.261C>A	c.(259-261)tcC>tcA	p.S87S		NM_033187.1	NP_149443.1	Q9BYR4	KRA43_HUMAN	keratin associated protein 4-3	87	29 X 5 AA repeats of C-C-[GIKRQVH]-[SPT]- [STA].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			tgcagcagctggagatacagc	0.602																																					p.S87S		.											.	KRTAP4-3-22	0			c.C261A						.																																			SO:0001819	synonymous_variant	85290	exon1			GCAGCTGGAGATA	AJ406935	CCDS42331.1	17q21.2	2013-06-25			ENSG00000196156	ENSG00000196156		"""Keratin associated proteins"""	18908	protein-coding gene	gene with protein product							Standard	NM_033187		Approved	KAP4.3	uc010cxl.3	Q9BYR4	OTTHUMG00000133639	ENST00000391356.2:c.261C>A	17.37:g.39324164G>T		279	1		308	195	NM_033187	0	0	0	0	0		Silent	SNP	ENST00000391356.2	37	CCDS42331.1																																																																																			G|0.750;A|0.250		0.602	KRTAP4-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257784.1		
KRTAP9-9	81870	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	39411754	39411754	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr17:39411754G>A	ENST00000394008.1	+	1	119	c.117G>A	c.(115-117)gtG>gtA	p.V39V		NM_030975.2	NP_112237.2	Q9BYP9	KRA99_HUMAN	keratin associated protein 9-9	44	14 X 5 AA repeats of C-C-[RQVGE]- [SPSTNQ]-[TASL].					keratin filament (GO:0045095)				endometrium(3)|skin(2)|upper_aerodigestive_tract(1)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CCTGCTGTGTGTCTAGCTGCT	0.647																																					p.V39V		.											.	.	0			c.G117A						.																																			SO:0001819	synonymous_variant	81870	exon1			CTGTGTGTCTAGC	AJ406951	CCDS54127.1	17q21.2	2010-06-03			ENSG00000198083	ENSG00000198083		"""Keratin associated proteins"""	16773	protein-coding gene	gene with protein product			"""keratin associated protein 9-5"""	KRTAP9-5		11279113	Standard	NM_030975		Approved	KAP9.9, KAP9.5	uc021txh.1	Q9BYP9	OTTHUMG00000133602	ENST00000394008.1:c.117G>A	17.37:g.39411754G>A		89	0		57	44	NM_030975	0	0	0	0	0	B5MDD6|Q9BYQ1	Silent	SNP	ENST00000394008.1	37	CCDS54127.1																																																																																			.		0.647	KRTAP9-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257710.1	NM_030975	
JUP	3728	ucsc.edu	37	17	39913949	39913949	+	Missense_Mutation	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr17:39913949T>C	ENST00000393931.3	-	11	1979	c.1861A>G	c.(1861-1863)Att>Gtt	p.I621V	JUP_ENST00000540235.1_Intron|JUP_ENST00000393930.1_Missense_Mutation_p.I621V|JUP_ENST00000310706.5_Missense_Mutation_p.I621V	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	621	Interaction with DSC1.				adherens junction organization (GO:0034332)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell-cell junction organization (GO:0045216)|cellular response to indole-3-methanol (GO:0071681)|cytoskeletal anchoring at plasma membrane (GO:0007016)|desmosome assembly (GO:0002159)|detection of mechanical stimulus (GO:0050982)|ectoderm development (GO:0007398)|endothelial cell-cell adhesion (GO:0071603)|establishment of protein localization to plasma membrane (GO:0090002)|gastrulation (GO:0007369)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|nervous system development (GO:0007399)|oocyte development (GO:0048599)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein heterooligomerization (GO:0051291)|regulation of cell proliferation (GO:0042127)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)|ventricular cardiac muscle cell action potential (GO:0086005)	actin cytoskeleton (GO:0015629)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gamma-catenin-TCF7L2 complex (GO:0071665)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|cadherin binding (GO:0045296)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|structural constituent of cell wall (GO:0005199)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		TCTGCATCAATGGCGTCGGCC	0.687																																					p.I621V	Colon(16;42 520 6044 17852 28530)	.											.	JUP-479	0			c.A1861G						.						27.0	28.0	28.0					17																	39913949		2203	4300	6503	SO:0001583	missense	3728	exon11			CATCAATGGCGTC	AF233882	CCDS11407.1	17q21	2014-09-17	2004-08-09		ENSG00000173801	ENSG00000173801		"""Armadillo repeat containing"""	6207	protein-coding gene	gene with protein product		173325	"""catenin (cadherin-associated protein), gamma 80kDa"""	CTNNG		1889810, 7604000	Standard	NM_021991		Approved	DP3, PDGB, PKGB, DPIII	uc002hxs.2	P14923	OTTHUMG00000133494	ENST00000393931.3:c.1861A>G	17.37:g.39913949T>C	ENSP00000377508:p.Ile621Val	152	0		132	2	NM_021991	0	0	23	28	5	Q15093|Q15151|Q7L3S5|Q86W21|Q9BWC4|Q9HCX9	Missense_Mutation	SNP	ENST00000393931.3	37	CCDS11407.1	.	.	.	.	.	.	.	.	.	.	T	15.61	2.884348	0.51908	.	.	ENSG00000173801	ENST00000393930;ENST00000310706;ENST00000393931	T;T;T	0.64803	-0.12;-0.12;-0.12	4.83	4.83	0.62350	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.65923	0.2738	L	0.59436	1.845	0.80722	D	1	P	0.36086	0.536	P	0.44673	0.457	T	0.69038	-0.5251	10	0.56958	D	0.05	-18.635	13.377	0.60745	0.0:0.0:0.0:1.0	.	621	P14923	PLAK_HUMAN	V	621	ENSP00000377507:I621V;ENSP00000311113:I621V;ENSP00000377508:I621V	ENSP00000311113:I621V	I	-	1	0	JUP	37167475	1.000000	0.71417	0.966000	0.40874	0.268000	0.26511	6.014000	0.70784	2.037000	0.60232	0.459000	0.35465	ATT	.		0.687	JUP-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257406.1		
TUBG1	7283	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	40767023	40767023	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr17:40767023G>A	ENST00000251413.3	+	11	1382	c.1320G>A	c.(1318-1320)cgG>cgA	p.R440R		NM_001070.4	NP_001061.2	P23258	TBG1_HUMAN	tubulin, gamma 1	440					cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|meiotic spindle organization (GO:0000212)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	apical part of cell (GO:0045177)|cell leading edge (GO:0031252)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|gamma-tubulin complex (GO:0000930)|nonmotile primary cilium (GO:0031513)|pericentriolar material (GO:0000242)|polar microtubule (GO:0005827)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)	Vinblastine(DB00570)	CGGCCACACGGCCAGACTACA	0.577																																					p.R440R	Colon(20;114 698 11420 22864)	.											.	TUBG1-91	0			c.G1320A						.						82.0	82.0	82.0					17																	40767023		2203	4300	6503	SO:0001819	synonymous_variant	7283	exon11			CACACGGCCAGAC	BC000619	CCDS11433.1	17q21.31	2010-03-15	2000-01-20		ENSG00000131462	ENSG00000131462		"""Tubulins"""	12417	protein-coding gene	gene with protein product		191135	"""tubulin, gamma polypeptide"""	TUBG		1904010	Standard	NM_001070		Approved	TUBGCP1	uc002ian.3	P23258		ENST00000251413.3:c.1320G>A	17.37:g.40767023G>A		211	0		187	154	NM_001070	0	0	1	37	36	Q53X79|Q9BW59	Silent	SNP	ENST00000251413.3	37	CCDS11433.1																																																																																			.		0.577	TUBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450548.1	NM_001070	
ATXN7L3	56970	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	42274975	42274975	+	Missense_Mutation	SNP	T	T	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr17:42274975T>G	ENST00000454077.2	-	2	174	c.175A>C	c.(175-177)Aag>Cag	p.K59Q	ATXN7L3_ENST00000593073.1_Intron|ATXN7L3_ENST00000389384.4_Missense_Mutation_p.K59Q|CTB-175E5.7_ENST00000586560.1_RNA	NM_020218.1	NP_064603.1			ataxin 7-like 3											kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CCAAAATCCTTCATGCTATCA	0.532																																					p.K59Q		.											.	ATXN7L3-68	0			c.A175C						.						151.0	152.0	152.0					17																	42274975		2003	4171	6174	SO:0001583	missense	56970	exon2			AATCCTTCATGCT	AK056002	CCDS42345.1, CCDS45697.1	17q21	2010-03-10			ENSG00000087152	ENSG00000087152			25416	protein-coding gene	gene with protein product						15115762	Standard	NM_001098833		Approved	DKFZp761G2113	uc002ifz.3	Q14CW9		ENST00000454077.2:c.175A>C	17.37:g.42274975T>G	ENSP00000397259:p.Lys59Gln	130	0		103	76	NM_020218	0	0	0	0	0		Missense_Mutation	SNP	ENST00000454077.2	37	CCDS45697.1	.	.	.	.	.	.	.	.	.	.	T	16.42	3.119452	0.56505	.	.	ENSG00000087152	ENST00000454077;ENST00000389384	.	.	.	4.8	3.72	0.42706	.	0.064455	0.64402	U	0.000010	T	0.67562	0.2906	M	0.71036	2.16	0.45777	D	0.998667	D;D	0.58620	0.983;0.98	P;P	0.58721	0.766;0.844	T	0.66850	-0.5819	9	0.51188	T	0.08	.	9.3501	0.38133	0.0:0.087:0.0:0.9129	.	59;59	Q14CW9;Q14CW9-2	AT7L3_HUMAN;.	Q	59	.	ENSP00000374035:K59Q	K	-	1	0	ATXN7L3	39630501	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	5.853000	0.69496	0.690000	0.31570	0.533000	0.62120	AAG	.		0.532	ATXN7L3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457724.1		
SLC4A1	6521	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	42337788	42337788	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr17:42337788G>A	ENST00000262418.6	-	6	624	c.469C>T	c.(469-471)Ctg>Ttg	p.L157L	AC003043.1_ENST00000597382.1_Intron|SLC4A1_ENST00000471005.1_5'UTR	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1 (Diego blood group)	157	Globular.				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular ion homeostasis (GO:0006873)|chloride transport (GO:0006821)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cortical cytoskeleton (GO:0030863)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	anion transmembrane transporter activity (GO:0008509)|anion:anion antiporter activity (GO:0015301)|ankyrin binding (GO:0030506)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		TTAAGCAGCAGGGCCCGGAGC	0.617																																					p.L157L		.											.	SLC4A1-92	0			c.C469T						.						40.0	39.0	40.0					17																	42337788		2203	4300	6503	SO:0001819	synonymous_variant	6521	exon6			GCAGCAGGGCCCG		CCDS11481.1	17q21.31	2014-07-19	2014-01-02		ENSG00000004939	ENSG00000004939		"""CD molecules"", ""Blood group antigens"", ""Solute carriers"""	11027	protein-coding gene	gene with protein product	"""Froese blood group"", ""Swann blood group"", ""Wright blood group"""	109270	"""Waldner blood group"", ""erythrocyte membrane protein band 3"", ""Diego blood group"", ""solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)"", ""solute carrier family 4 (anion exchanger), member 1"""	EPB3, AE1, DI, WD		8434259	Standard	NM_000342		Approved	RTA1A, CD233, FR, SW, WR	uc002igf.4	P02730	OTTHUMG00000156843	ENST00000262418.6:c.469C>T	17.37:g.42337788G>A		201	0		141	107	NM_000342	0	0	0	0	0	G4V2I6|P78487|Q1ZZ45|Q4KKW9|Q4VB84|Q9UCY7|Q9UDJ1	Silent	SNP	ENST00000262418.6	37	CCDS11481.1																																																																																			.		0.617	SLC4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346194.1	NM_000342	
GPATCH8	23131	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	17	42475271	42475271	+	Missense_Mutation	SNP	C	C	T	rs200060507		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr17:42475271C>T	ENST00000591680.1	-	8	4204	c.4174G>A	c.(4174-4176)Ggc>Agc	p.G1392S	GPATCH8_ENST00000434000.1_Missense_Mutation_p.G1314S	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1392							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		GGGTGAATGCCGATGGCGGCA	0.567													C|||	1	0.000199681	0.0	0.0	5008	,	,		18945	0.0		0.0	False		,,,				2504	0.001				p.G1392S		.											.	GPATCH8-94	0			c.G4174A						.						80.0	69.0	73.0					17																	42475271		2203	4300	6503	SO:0001583	missense	23131	exon8			GAATGCCGATGGC	AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"""G patch domain containing"""	29066	protein-coding gene	gene with protein product		614396	"""KIAA0553"""	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.4174G>A	17.37:g.42475271C>T	ENSP00000467556:p.Gly1392Ser	121	0		97	8	NM_001002909	0	0	24	25	1	B9EGP9|O60300|Q8TB99	Missense_Mutation	SNP	ENST00000591680.1	37	CCDS32666.1	.	.	.	.	.	.	.	.	.	.	C	18.29	3.592409	0.66219	.	.	ENSG00000186566	ENST00000335500;ENST00000434000	T	0.15834	2.39	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.27663	0.0680	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.06041	-1.0849	10	0.16896	T	0.51	-17.3349	17.9789	0.89134	0.0:1.0:0.0:0.0	.	1392	Q9UKJ3	GPTC8_HUMAN	S	1392;1314	ENSP00000395016:G1314S	ENSP00000335486:G1392S	G	-	1	0	GPATCH8	39830797	0.999000	0.42202	1.000000	0.80357	0.735000	0.41995	3.352000	0.52239	2.334000	0.79466	0.305000	0.20034	GGC	C|0.999;T|0.001		0.567	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457797.1	NM_001002909	
ACBD4	79777	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	43214817	43214817	+	Missense_Mutation	SNP	C	C	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr17:43214817C>G	ENST00000376955.4	+	6	795	c.498C>G	c.(496-498)agC>agG	p.S166R	ACBD4_ENST00000592162.1_Missense_Mutation_p.S166R|ACBD4_ENST00000586346.1_Missense_Mutation_p.S166R|ACBD4_ENST00000321854.8_Missense_Mutation_p.S166R|ACBD4_ENST00000591136.1_3'UTR|ACBD4_ENST00000398322.3_Missense_Mutation_p.S166R|ACBD4_ENST00000431281.1_Missense_Mutation_p.S166R|ACBD4_ENST00000591859.1_Missense_Mutation_p.S166R	NM_001135707.1	NP_001129179.1	Q8NC06	ACBD4_HUMAN	acyl-CoA binding domain containing 4	166				S -> G (in Ref. 2; BAC11403). {ECO:0000305}.			fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289)			kidney(1)|lung(3)|ovary(1)	5						CACCCCCAAGCCCAGGTTAGT	0.617																																					p.S166R		.											.	ACBD4-92	0			c.C498G						.						43.0	44.0	43.0					17																	43214817		1911	4103	6014	SO:0001583	missense	79777	exon6			CCCAAGCCCAGGT	BC029164	CCDS42348.1, CCDS45710.1, CCDS45711.1	17q21.31	2012-10-02	2010-04-30		ENSG00000181513	ENSG00000181513			23337	protein-coding gene	gene with protein product			"""acyl-Coenzyme A binding domain containing 4"""				Standard	NM_001135704		Approved	FLJ13322	uc002iie.3	Q8NC06	OTTHUMG00000180111	ENST00000376955.4:c.498C>G	17.37:g.43214817C>G	ENSP00000366154:p.Ser166Arg	106	0		53	44	NM_001135707	0	0	0	0	0	D3DX64|Q8IUT1|Q9H8Q4	Missense_Mutation	SNP	ENST00000376955.4	37	CCDS45711.1	.	.	.	.	.	.	.	.	.	.	C	12.90	2.077958	0.36662	.	.	ENSG00000181513	ENST00000431281;ENST00000321854;ENST00000398322;ENST00000376955	T;T;T;T	0.21543	2.2;2.3;2.3;2.0	4.27	-1.36	0.09085	.	1.083550	0.06916	N	0.808522	T	0.23330	0.0564	L	0.60455	1.87	0.09310	N	0.999994	P;P;P	0.45902	0.703;0.868;0.659	B;B;B	0.43274	0.172;0.383;0.414	T	0.33394	-0.9870	10	0.66056	D	0.02	.	7.7696	0.28999	0.0:0.4685:0.0:0.5315	.	166;166;166	Q8NC06-3;Q8NC06;Q8NC06-2	.;ACBD4_HUMAN;.	R	166	ENSP00000405969:S166R;ENSP00000314440:S166R;ENSP00000381367:S166R;ENSP00000366154:S166R	ENSP00000314440:S166R	S	+	3	2	ACBD4	40570343	0.000000	0.05858	0.017000	0.16124	0.751000	0.42716	-0.666000	0.05280	-0.312000	0.08741	0.555000	0.69702	AGC	.		0.617	ACBD4-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000449816.1	NM_024722	
LPO	4025	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	56344750	56344750	+	Silent	SNP	G	G	A	rs148241940	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr17:56344750G>A	ENST00000262290.4	+	12	2050	c.1734G>A	c.(1732-1734)ccG>ccA	p.P578P	LPO_ENST00000543544.1_Silent_p.P519P|LPO_ENST00000421678.2_Silent_p.P495P|LPO_ENST00000582328.1_Silent_p.P495P	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	578					defense response to bacterium (GO:0042742)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|hydrogen peroxide catabolic process (GO:0042744)|response to oxidative stress (GO:0006979)|thiocyanate metabolic process (GO:0018969)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|thiocyanate peroxidase activity (GO:0036393)			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						TCTCACAGCCGCAGACACTAG	0.542													G|||	4	0.000798722	0.0015	0.0	5008	,	,		20134	0.002		0.0	False		,,,				2504	0.0				p.P578P		.											.	LPO-91	0			c.G1734A						.	G	,	2,4404	4.2+/-10.8	0,2,2201	68.0	62.0	64.0		1485,1734	-3.7	0.1	17	dbSNP_134	64	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	LPO	NM_001160102.1,NM_006151.2	,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,	495/630,578/713	56344750	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	4025	exon12			ACAGCCGCAGACA	M58151	CCDS32689.1, CCDS54149.1	17q23.1	2008-02-05				ENSG00000167419	1.11.1.7		6678	protein-coding gene	gene with protein product		150205				2222811, 8964511	Standard	NM_006151		Approved	SPO	uc002ivt.3	P22079		ENST00000262290.4:c.1734G>A	17.37:g.56344750G>A		104	0		79	65	NM_006151	0	0	0	0	0	A5JUY4|E7EMJ3|Q13408|Q3KNQ2	Silent	SNP	ENST00000262290.4	37	CCDS32689.1																																																																																			G|1.000;A|0.000		0.542	LPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443961.1		
BZRAP1	9256	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	56388274	56388274	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr17:56388274G>A	ENST00000343736.4	-	19	3545	c.3382C>T	c.(3382-3384)Cca>Tca	p.P1128S	BZRAP1_ENST00000268893.6_Missense_Mutation_p.P1068S|BZRAP1_ENST00000355701.3_Missense_Mutation_p.P1128S			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	1128	Pro-rich.					cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGTGCTCCTGGAGGCTCTTGA	0.652																																					p.P1128S		.											.	BZRAP1-229	0			c.C3382T						.						13.0	14.0	14.0					17																	56388274		2191	4282	6473	SO:0001583	missense	9256	exon19			CTCCTGGAGGCTC	AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.3382C>T	17.37:g.56388274G>A	ENSP00000345824:p.Pro1128Ser	25	0		27	21	NM_004758	0	0	0	1	1	O75111|Q8N5W3	Missense_Mutation	SNP	ENST00000343736.4	37	CCDS11605.1	.	.	.	.	.	.	.	.	.	.	G	14.38	2.518789	0.44763	.	.	ENSG00000005379	ENST00000355701;ENST00000343736;ENST00000268893	T;T;T	0.34667	1.35;1.35;1.35	5.58	4.58	0.56647	.	0.962117	0.08615	N	0.919377	T	0.32376	0.0827	L	0.54323	1.7	0.09310	N	1	P;B;B	0.35433	0.501;0.023;0.156	B;B;B	0.25140	0.058;0.007;0.054	T	0.13415	-1.0510	10	0.21540	T	0.41	.	13.6424	0.62260	0.0:0.1957:0.8043:0.0	.	1128;1068;1128	B7ZVZ7;O95153-2;O95153	.;.;RIMB1_HUMAN	S	1128;1128;1068	ENSP00000347929:P1128S;ENSP00000345824:P1128S;ENSP00000268893:P1068S	ENSP00000268893:P1068S	P	-	1	0	BZRAP1	53743273	0.185000	0.23213	0.462000	0.27118	0.347000	0.29111	3.097000	0.50251	2.620000	0.88729	0.563000	0.77884	CCA	.		0.652	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1	NM_004758	
RNF43	54894	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	56435785	56435785	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr17:56435785C>T	ENST00000584437.1	-	8	3307	c.1352G>A	c.(1351-1353)tGc>tAc	p.C451Y	RNF43_ENST00000577716.1_Missense_Mutation_p.C451Y|RNF43_ENST00000500597.2_Missense_Mutation_p.C410Y|RNF43_ENST00000577625.1_Missense_Mutation_p.C324Y|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000583753.1_Missense_Mutation_p.C410Y|RNF43_ENST00000407977.2_Missense_Mutation_p.C451Y|RNF43_ENST00000581868.1_Missense_Mutation_p.C324Y			Q68DV7	RNF43_HUMAN	ring finger protein 43	451	Ser-rich.				negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCGTTCTGTGCAATAGCTTTC	0.622																																					p.C451Y		.											.	RNF43-92	0			c.G1352A						.						63.0	65.0	65.0					17																	56435785		2203	4300	6503	SO:0001583	missense	54894	exon9			TCTGTGCAATAGC		CCDS11607.1	17q23.2	2013-01-09						"""RING-type (C3HC4) zinc fingers"""	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.1352G>A	17.37:g.56435785C>T	ENSP00000463069:p.Cys451Tyr	71	0		38	28	NM_017763	0	0	0	0	0	A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Missense_Mutation	SNP	ENST00000584437.1	37	CCDS11607.1	.	.	.	.	.	.	.	.	.	.	C	4.901	0.167508	0.09339	.	.	ENSG00000108375	ENST00000407977;ENST00000500597	T;T	0.08008	3.28;3.14	4.88	4.88	0.63580	.	0.405477	0.27306	N	0.019967	T	0.06325	0.0163	N	0.24115	0.695	0.31004	N	0.719965	B;P;B	0.39624	0.118;0.681;0.165	B;B;B	0.41988	0.126;0.372;0.059	T	0.02758	-1.1114	10	0.02654	T	1	-20.1899	12.7418	0.57257	0.1756:0.8243:0.0:0.0	.	410;451;451	Q68DV7-2;Q68DV7-4;Q68DV7	.;.;RNF43_HUMAN	Y	451;410	ENSP00000385328:C451Y;ENSP00000441969:C410Y	ENSP00000385328:C451Y	C	-	2	0	RNF43	53790784	1.000000	0.71417	0.969000	0.41365	0.023000	0.10783	1.456000	0.35201	2.257000	0.74773	0.416000	0.27883	TGC	.		0.622	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	NM_017763	
RAD51C	5889	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	56774113	56774113	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr17:56774113C>T	ENST00000337432.4	+	3	535	c.464C>T	c.(463-465)gCa>gTa	p.A155V	RAD51C_ENST00000487921.1_3'UTR|RAD51C_ENST00000583539.1_Missense_Mutation_p.A155V	NM_058216.1	NP_478123.1	O43502	RA51C_HUMAN	RAD51 paralog C	155					blood coagulation (GO:0007596)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|female meiosis sister chromatid cohesion (GO:0007066)|male meiosis I (GO:0007141)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|reciprocal meiotic recombination (GO:0007131)|sister chromatid cohesion (GO:0007062)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|Rad51C-XRCC3 complex (GO:0033065)|replication fork (GO:0005657)	ATP binding (GO:0005524)|crossover junction endodeoxyribonuclease activity (GO:0008821)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)			upper_aerodigestive_tract(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCAGGTGAAGCAGTTTTTATT	0.418								Homologous recombination	Hereditary Breast-Ovarian Cancer, non-BRCA1/2																												p.A155V		.											.	RAD51C-637	0			c.C464T						.						202.0	187.0	192.0					17																	56774113		2203	4300	6503	SO:0001583	missense	5889	exon3	Familial Cancer Database	BRCAX	GTGAAGCAGTTTT	AF029670	CCDS11611.1, CCDS45745.1	17q25.1	2014-09-17	2013-07-02		ENSG00000108384	ENSG00000108384		"""Fanconi anemia, complementation groups"""	9820	protein-coding gene	gene with protein product		602774	"""RAD51 (S. cerevisiae) homolog C"", ""RAD51 homolog C (S. cerevisiae)"""			9469824, 22167183	Standard	NM_058216		Approved	RAD51L2, FANCO	uc002iwu.3	O43502	OTTHUMG00000141292	ENST00000337432.4:c.464C>T	17.37:g.56774113C>T	ENSP00000336701:p.Ala155Val	175	0		95	55	NM_058216	0	0	2	13	11	O43503|Q3B783	Missense_Mutation	SNP	ENST00000337432.4	37	CCDS11611.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.644600	0.87859	.	.	ENSG00000108384	ENST00000337432;ENST00000425173	T;T	0.58060	0.36;0.36	5.65	5.65	0.86999	DNA recombination/repair protein RecA/RadB, ATP-binding domain (1);ATPase, AAA+ type, core (1);DNA recombination and repair protein Rad51, C-terminal (1);	0.099127	0.64402	D	0.000001	T	0.51244	0.1663	N	0.20401	0.57	0.80722	D	1	P;P	0.45396	0.857;0.484	P;P	0.53689	0.732;0.531	T	0.35549	-0.9784	10	0.14252	T	0.57	-20.1981	18.3036	0.90172	0.0:1.0:0.0:0.0	.	146;155	B4E0G0;O43502	.;RA51C_HUMAN	V	155;87	ENSP00000336701:A155V;ENSP00000407282:A87V	ENSP00000336701:A155V	A	+	2	0	RAD51C	54129112	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.073000	0.64395	2.660000	0.90430	0.655000	0.94253	GCA	.		0.418	RAD51C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280540.2	NM_058216	
KIF19	124602	bcgsc.ca	37	17	72340954	72340954	+	Missense_Mutation	SNP	G	G	A	rs144185563		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr17:72340954G>A	ENST00000389916.4	+	7	775	c.637G>A	c.(637-639)Gcc>Acc	p.A213T		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	213	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|axonemal microtubule depolymerization (GO:0060404)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end specific microtubule depolymerization (GO:0070462)	cilium (GO:0005929)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						GCCCACGGCCGCCAACCAGAC	0.672																																					p.A213T		.											.	KIF19-90	0			c.G637A						.	G	THR/ALA	0,4402		0,0,2201	37.0	40.0	39.0		637	4.5	1.0	17	dbSNP_134	39	1,8595	1.2+/-3.3	0,1,4297	no	missense	KIF19	NM_153209.3	58	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	213/999	72340954	1,12997	2201	4298	6499	SO:0001583	missense	124602	exon7			ACGGCCGCCAACC	AK094619	CCDS32718.2	17q25	2007-02-13			ENSG00000196169	ENSG00000196169		"""Kinesins"""	26735	protein-coding gene	gene with protein product						11416179	Standard	NM_153209		Approved	FLJ37300, KIF19A	uc031rei.1	Q2TAC6	OTTHUMG00000150694	ENST00000389916.4:c.637G>A	17.37:g.72340954G>A	ENSP00000374566:p.Ala213Thr	115	4		147	114	NM_153209	0	0	0	0	0	A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Missense_Mutation	SNP	ENST00000389916.4	37	CCDS32718.2	.	.	.	.	.	.	.	.	.	.	G	28.3	4.908839	0.92107	0.0	1.16E-4	ENSG00000196169	ENST00000551294;ENST00000389916	T;T	0.75589	-0.95;-0.95	5.49	4.52	0.55395	Kinesin, motor domain (5);	.	.	.	.	T	0.81498	0.4835	M	0.79258	2.445	0.80722	D	1	D;D;P;P	0.59767	0.976;0.986;0.915;0.915	P;P;P;P	0.54346	0.642;0.749;0.481;0.481	T	0.82476	-0.0438	9	0.45353	T	0.12	.	13.3097	0.60374	0.0779:0.0:0.9221:0.0	.	213;171;171;213	Q2TAC6;F8VW50;Q2TAC6-3;Q2TAC6-2	KIF19_HUMAN;.;.;.	T	171;213	ENSP00000449134:A171T;ENSP00000374566:A213T	ENSP00000374566:A213T	A	+	1	0	KIF19	69852549	1.000000	0.71417	0.961000	0.40146	0.707000	0.40811	6.252000	0.72447	1.336000	0.45506	-0.265000	0.10407	GCC	G|1.000;A|0.000		0.672	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319644.2	NM_153209	
TSEN54	283989	hgsc.bcm.edu	37	17	73512884	73512884	+	Missense_Mutation	SNP	T	T	G	rs8079373	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr17:73512884T>G	ENST00000333213.6	+	2	150	c.114T>G	c.(112-114)caT>caG	p.H38Q	CASKIN2_ENST00000321617.3_5'Flank|CASKIN2_ENST00000581870.1_5'Flank|TSEN54_ENST00000580013.1_3'UTR	NM_207346.2	NP_997229.2	Q7Z6J9	SEN54_HUMAN	TSEN54 tRNA splicing endonuclease subunit	38			H -> Q (in dbSNP:rs8079373).		mRNA processing (GO:0006397)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)	13	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGCGCTCGCATGGCCCCAAGG	0.751													T|||	817	0.163139	0.351	0.1066	5008	,	,		8406	0.0298		0.1421	False		,,,				2504	0.1084				p.H38Q		.											.	TSEN54-91	0			c.T114G						.	T	GLN/HIS	687,2287		74,539,874	7.0	9.0	8.0		114	2.9	1.0	17	dbSNP_116	8	664,6048		32,600,2724	no	missense	TSEN54	NM_207346.2	24	106,1139,3598	GG,GT,TT		9.8927,23.1002,13.948	possibly-damaging	38/527	73512884	1351,8335	1487	3356	4843	SO:0001583	missense	283989	exon2			CTCGCATGGCCCC	AK097583	CCDS11724.1	17q25.1	2013-08-06	2013-08-06		ENSG00000182173	ENSG00000182173		"""tRNA splicing endonuclease subunits"""	27561	protein-coding gene	gene with protein product		608755	"""tRNA splicing endonuclease 54 homolog (SEN54, S. cerevisiae)"", ""tRNA splicing endonuclease 54 homolog (S. cerevisiae)"""			15109492	Standard	NM_207346		Approved	SEN54, SEN54L	uc002jof.1	Q7Z6J9		ENST00000333213.6:c.114T>G	17.37:g.73512884T>G	ENSP00000327487:p.His38Gln	0	0		7	6	NM_207346	0	0	0	3	3	Q86WV3|Q86XE4|Q8N9H2	Missense_Mutation	SNP	ENST00000333213.6	37	CCDS11724.1	353	0.16163003663003664	180	0.36585365853658536	53	0.1464088397790055	16	0.027972027972027972	104	0.13720316622691292	T	16.52	3.146141	0.57044	0.231002	0.098927	ENSG00000182173	ENST00000333213;ENST00000545228	T	0.56611	0.45	4.01	2.93	0.34026	.	0.190194	0.36134	N	0.002767	T	0.00012	0.0000	L	0.27053	0.805	0.25905	P	0.9833048	B;D	0.69078	0.244;0.997	B;D	0.63793	0.075;0.918	T	0.31308	-0.9948	9	0.48119	T	0.1	-2.6418	7.7469	0.28875	0.0:0.1826:0.0:0.8174	rs8079373;rs60799944;rs8079373	38;38	Q7Z6J9;Q7Z6J9-2	SEN54_HUMAN;.	Q	38	ENSP00000327487:H38Q	ENSP00000327487:H38Q	H	+	3	2	TSEN54	71024479	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.700000	0.25601	0.724000	0.32296	0.368000	0.22195	CAT	T|0.845;G|0.155		0.751	TSEN54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447618.1	NM_207346	
UNC13D	201294	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	73839590	73839590	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr17:73839590G>A	ENST00000207549.4	-	2	507	c.128C>T	c.(127-129)cCa>cTa	p.P43L	UNC13D_ENST00000587504.1_5'UTR|UNC13D_ENST00000412096.2_Missense_Mutation_p.P43L	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	43					defense response to virus (GO:0051607)|germinal center formation (GO:0002467)|granuloma formation (GO:0002432)|natural killer cell degranulation (GO:0043320)|phagocytosis (GO:0006909)|positive regulation of exocytosis (GO:0045921)|regulation of mast cell degranulation (GO:0043304)	endosome (GO:0005768)|exocytic vesicle (GO:0070382)|lysosome (GO:0005764)|membrane (GO:0016020)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			GTGGTGGGATGGAGGCTGGAT	0.647									Familial Hemophagocytic Lymphohistiocytosis																												p.P43L		.											.	UNC13D-92	0			c.C128T						.						97.0	87.0	90.0					17																	73839590		2203	4299	6502	SO:0001583	missense	201294	exon2	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	TGGGATGGAGGCT	AK024474	CCDS11730.1	17q25.3	2014-09-17				ENSG00000092929			23147	protein-coding gene	gene with protein product		608897					Standard	NM_199242		Approved	Munc13-4	uc002jpp.3	Q70J99		ENST00000207549.4:c.128C>T	17.37:g.73839590G>A	ENSP00000207549:p.Pro43Leu	92	0		75	61	NM_199242	0	0	0	0	0	B4DWG9|Q9H7K5	Missense_Mutation	SNP	ENST00000207549.4	37	CCDS11730.1	.	.	.	.	.	.	.	.	.	.	G	6.496	0.459705	0.12342	.	.	ENSG00000092929	ENST00000207549;ENST00000412096;ENST00000448606	T;T	0.69435	-0.38;-0.4	4.33	3.33	0.38152	.	0.444083	0.20267	N	0.095759	T	0.52256	0.1723	L	0.36672	1.1	0.09310	N	1	B	0.20052	0.041	B	0.16722	0.016	T	0.35895	-0.9770	10	0.25106	T	0.35	0.0609	8.9908	0.36022	0.0:0.0:0.7689:0.2311	.	43	Q70J99	UN13D_HUMAN	L	43	ENSP00000207549:P43L;ENSP00000388093:P43L	ENSP00000207549:P43L	P	-	2	0	UNC13D	71351185	0.004000	0.15560	0.009000	0.14445	0.021000	0.10359	0.793000	0.26944	0.964000	0.38108	0.561000	0.74099	CCA	.		0.647	UNC13D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448847.2	XM_113950	
FOXJ1	2302	hgsc.bcm.edu	37	17	74133974	74133974	+	Silent	SNP	C	C	T	rs894542	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr17:74133974C>T	ENST00000322957.6	-	3	1080	c.726G>A	c.(724-726)acG>acA	p.T242T	RNF157-AS1_ENST00000590137.1_RNA|RNF157-AS1_ENST00000585542.1_RNA	NM_001454.3	NP_001445.2	Q92949	FOXJ1_HUMAN	forkhead box J1	242					actin cytoskeleton organization (GO:0030036)|activation of Rho GTPase activity (GO:0032862)|brain development (GO:0007420)|central tolerance induction (GO:0002508)|cilium assembly (GO:0042384)|epithelium development (GO:0060429)|establishment of apical/basal cell polarity (GO:0035089)|glomerular parietal epithelial cell development (GO:0072016)|humoral immune response (GO:0006959)|left/right pattern formation (GO:0060972)|leukocyte migration (GO:0050900)|lung epithelium development (GO:0060428)|metanephric part of ureteric bud development (GO:0035502)|negative regulation of B cell activation (GO:0050869)|negative regulation of germinal center formation (GO:0002635)|negative regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002924)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell differentiation in thymus (GO:0033085)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pattern specification process (GO:0007389)|positive regulation of central B cell tolerance induction (GO:0002897)|positive regulation of lung ciliated cell differentiation (GO:1901248)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			large_intestine(1)|liver(1)|pancreas(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(166;0.187)			CGGTATTCACCGTCAGCGGCC	0.716													C|||	385	0.076877	0.0431	0.134	5008	,	,		12954	0.0347		0.1103	False		,,,				2504	0.091				p.T242T		.											.	FOXJ1-227	0			c.G726A						.	C		156,3988		3,150,1919	4.0	6.0	5.0		726	1.5	1.0	17	dbSNP_86	5	700,7392		28,644,3374	no	coding-synonymous	FOXJ1	NM_001454.3		31,794,5293	TT,TC,CC		8.6505,3.7645,6.9958		242/422	74133974	856,11380	2072	4046	6118	SO:0001819	synonymous_variant	2302	exon3			ATTCACCGTCAGC	X99349	CCDS32739.1	17q25.1	2008-05-14				ENSG00000129654		"""Forkhead boxes"""	3816	protein-coding gene	gene with protein product		602291		FKHL13		9073514, 16518568	Standard	NM_001454		Approved	HFH-4, HFH4	uc002jqx.3	Q92949		ENST00000322957.6:c.726G>A	17.37:g.74133974C>T		2	0		11	11	NM_001454	0	0	0	0	0	O00630	Silent	SNP	ENST00000322957.6	37	CCDS32739.1																																																																																			C|0.925;T|0.075		0.716	FOXJ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449856.1	NM_001454	
UBE2O	63893	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	74387281	74387281	+	Missense_Mutation	SNP	G	G	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr17:74387281G>T	ENST00000319380.7	-	18	3686	c.3622C>A	c.(3622-3624)Ctg>Atg	p.L1208M		NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	1208					positive regulation of BMP signaling pathway (GO:0030513)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						GCTGAGGCCAGGCCCTGGGCA	0.632																																					p.L1208M		.											.	UBE2O-272	0			c.C3622A						.						81.0	78.0	79.0					17																	74387281		2203	4300	6503	SO:0001583	missense	63893	exon18			AGGCCAGGCCCTG	AB051521	CCDS32742.1	17q25.1	2013-10-09			ENSG00000175931	ENSG00000175931			29554	protein-coding gene	gene with protein product						11311559, 11214970	Standard	NM_022066		Approved	E2-230K	uc002jrm.4	Q9C0C9	OTTHUMG00000180178	ENST00000319380.7:c.3622C>A	17.37:g.74387281G>T	ENSP00000323687:p.Leu1208Met	95	0		63	54	NM_022066	0	0	0	15	15	A6NDU5|Q69YP4|Q6PIZ2|Q86UA4|Q8N425|Q8TBN1|Q9BSW1|Q9H6E6|Q9H7E4|Q9H9B2	Missense_Mutation	SNP	ENST00000319380.7	37	CCDS32742.1	.	.	.	.	.	.	.	.	.	.	g	7.305	0.613817	0.14066	.	.	ENSG00000175931	ENST00000319380	T	0.72615	-0.67	4.48	4.48	0.54585	.	1.271040	0.05806	N	0.613150	T	0.53658	0.1810	N	0.08118	0	0.09310	N	1	B	0.22480	0.07	B	0.19391	0.025	T	0.37709	-0.9694	10	0.37606	T	0.19	-4.1291	10.1708	0.42908	0.0918:0.0:0.9082:0.0	.	1208	Q9C0C9	UBE2O_HUMAN	M	1208	ENSP00000323687:L1208M	ENSP00000323687:L1208M	L	-	1	2	UBE2O	71898876	0.034000	0.19679	0.982000	0.44146	0.585000	0.36419	0.268000	0.18571	2.326000	0.78906	0.651000	0.88453	CTG	.		0.632	UBE2O-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450123.1	NM_022066	
DNAH17	8632	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	76455088	76455088	+	Missense_Mutation	SNP	T	T	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr17:76455088T>A	ENST00000585328.1	-	61	9965	c.9841A>T	c.(9841-9843)Att>Ttt	p.I3281F	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000389840.5_Missense_Mutation_p.I3272F	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	3272	Stalk. {ECO:0000250}.				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(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CTTACGGCAATCTTGTTTTTG	0.602																																					p.I3286F		.											.	DNAH17-142	0			c.A9856T						.						95.0	88.0	90.0					17																	76455088		2203	4300	6503	SO:0001583	missense	8632	exon61			CGGCAATCTTGTT	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.9841A>T	17.37:g.76455088T>A	ENSP00000465516:p.Ile3281Phe	98	0		67	53	NM_173628	0	0	0	0	0	O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37		.	.	.	.	.	.	.	.	.	.	T	17.46	3.394779	0.62066	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.80123	-1.34	5.35	5.35	0.76521	.	0.149138	0.39210	N	0.001423	D	0.83147	0.5191	M	0.85630	2.765	0.39565	D	0.969199	B	0.33694	0.421	B	0.34301	0.179	D	0.85866	0.1413	10	0.87932	D	0	.	15.0194	0.71617	0.0:0.0:0.0:1.0	.	3281	E7EUM8	.	F	3281;3272	ENSP00000374490:I3272F	ENSP00000300671:I3281F	I	-	1	0	DNAH17	73966683	1.000000	0.71417	0.993000	0.49108	0.965000	0.64279	3.794000	0.55492	2.016000	0.59253	0.533000	0.62120	ATT	.		0.602	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628	
C1QTNF1	114897	bcgsc.ca	37	17	77043989	77043989	+	Missense_Mutation	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr17:77043989T>C	ENST00000339142.2	+	5	1220	c.665T>C	c.(664-666)tTc>tCc	p.F222S	C1QTNF1_ENST00000580454.1_Missense_Mutation_p.F222S|C1QTNF1_ENST00000581774.1_Missense_Mutation_p.F222S|C1QTNF1_ENST00000578229.1_Missense_Mutation_p.F140S|C1QTNF1_ENST00000580474.1_Missense_Mutation_p.F222S|C1QTNF1_ENST00000354124.3_Missense_Mutation_p.F232S|C1QTNF1_ENST00000579760.1_Missense_Mutation_p.F222S|C1QTNF1_ENST00000583904.1_Missense_Mutation_p.F222S|C1QTNF1_ENST00000582625.1_3'UTR|C1QTNF1_ENST00000392445.2_Missense_Mutation_p.F222S|C1QTNF1_ENST00000311661.4_Missense_Mutation_p.F140S	NM_198593.3	NP_940995.1	Q9BXJ1	C1QT1_HUMAN	C1q and tumor necrosis factor related protein 1	222	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				negative regulation of platelet activation (GO:0010544)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of aldosterone secretion (GO:2000860)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase B signaling (GO:0051897)|protein heterotrimerization (GO:0070208)|protein homooligomerization (GO:0051260)|regulation of glucose metabolic process (GO:0010906)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	collagen binding (GO:0005518)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			GTGATCTTGTTCGCGCAGGTG	0.592																																					p.F222S		.											.	C1QTNF1-91	0			c.T665C						.						156.0	124.0	135.0					17																	77043989		2203	4300	6503	SO:0001583	missense	114897	exon4			TCTTGTTCGCGCA	AF329840	CCDS11761.1, CCDS11762.1	17q25	2012-07-02			ENSG00000173918	ENSG00000173918			14324	protein-coding gene	gene with protein product	"""G protein coupled receptor interacting protein"""	610365				12409230	Standard	NM_198593		Approved	CTRP1, ZSIG37, GIP, FLJ90694	uc002jwp.4	Q9BXJ1	OTTHUMG00000177533	ENST00000339142.2:c.665T>C	17.37:g.77043989T>C	ENSP00000340864:p.Phe222Ser	156	3		107	84	NM_030968	0	0	12	12	0	Q6ZMH6|Q96NF2|Q9GZR4	Missense_Mutation	SNP	ENST00000339142.2	37	CCDS11761.1	.	.	.	.	.	.	.	.	.	.	T	15.45	2.835937	0.50951	.	.	ENSG00000173918	ENST00000339142;ENST00000311661;ENST00000354124;ENST00000392444;ENST00000392445	T;T;T	0.75154	-0.91;-0.91;-0.91	5.07	2.8	0.32819	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.179099	0.37623	N	0.002018	T	0.70988	0.3287	L	0.49778	1.585	0.37858	D	0.92962	B;B;B	0.29955	0.005;0.005;0.263	B;B;B	0.38156	0.028;0.028;0.266	T	0.70044	-0.4980	10	0.72032	D	0.01	.	10.1418	0.42740	0.723:0.0:0.0:0.277	.	232;232;222	A8K7L9;Q6ZMH6;Q9BXJ1	.;.;C1QT1_HUMAN	S	222;140;232;222;232	ENSP00000340864:F222S;ENSP00000311265:F140S;ENSP00000343230:F232S	ENSP00000311265:F140S	F	+	2	0	C1QTNF1	74555584	1.000000	0.71417	0.999000	0.59377	0.951000	0.60555	6.190000	0.72057	0.239000	0.21243	-0.527000	0.04329	TTC	.		0.592	C1QTNF1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437388.2	NM_030968	
TSPAN10	83882	broad.mit.edu	37	17	79612317	79612317	+	RNA	DEL	G	G	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr17:79612317delG	ENST00000572675.1	+	0	336				TSPAN10_ENST00000328585.4_RNA			Q9H1Z9	TSN10_HUMAN	tetraspanin 10						establishment of protein localization to organelle (GO:0072594)	integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)	p.L116fs*19(1)		ovary(1)	1	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GAAGTGATCTGGGGGGGCCCC	0.682																																					.		.											.	TSPAN10-23	1	Deletion - Frameshift(1)	large_intestine(1)	.						.						25.0	30.0	29.0					17																	79612317		1895	4104	5999			83882	.			TGATCTGGGGGGG	BC032802		17q25.3	2013-10-02			ENSG00000182612	ENSG00000182612		"""Tetraspanins"""	29942	protein-coding gene	gene with protein product	"""oculospanin"""					12107410	Standard	NM_031945		Approved	OCSP	uc010die.3	Q9H1Z9	OTTHUMG00000178037		17.37:g.79612317delG		12	0		10	5	.	0	0	0	0	0	Q8N548	RNA	DEL	ENST00000572675.1	37																																																																																				.		0.682	TSPAN10-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000440313.1	NM_031945	
ARHGDIA	396	broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	79827660	79827660	+	Silent	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr17:79827660T>C	ENST00000269321.7	-	2	282	c.147A>G	c.(145-147)cgA>cgG	p.R49R	ARHGDIA_ENST00000400721.4_Silent_p.R49R|RP11-498C9.3_ENST00000576021.1_RNA|ARHGDIA_ENST00000541078.2_Silent_p.R49R|ARHGDIA_ENST00000581876.1_Silent_p.R49R|ARHGDIA_ENST00000582520.1_5'Flank|ARHGDIA_ENST00000584461.1_Silent_p.R49R|ARHGDIA_ENST00000580685.1_Silent_p.R49R|RP11-498C9.3_ENST00000576554.1_RNA	NM_001185078.1|NM_004309.4	NP_001172007.1|NP_004300.1	P52565	GDIR1_HUMAN	Rho GDP dissociation inhibitor (GDI) alpha	49					cellular component movement (GO:0006928)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of axonogenesis (GO:0050772)|regulation of axonogenesis (GO:0050770)|regulation of protein localization (GO:0032880)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|semaphorin-plexin signaling pathway (GO:0071526)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)	GTPase activator activity (GO:0005096)|Rho GDP-dissociation inhibitor activity (GO:0005094)			endometrium(1)|lung(1)|prostate(1)	3	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			CCTTGTACTTTCGCAGGCTCT	0.657																																					p.R49R		.											.	ARHGDIA-90	0			c.A147G						.						57.0	53.0	54.0					17																	79827660		2203	4300	6503	SO:0001819	synonymous_variant	396	exon2			GTACTTTCGCAGG	BC028333	CCDS11788.1, CCDS58609.1	17q25.3	2005-12-20				ENSG00000141522			678	protein-coding gene	gene with protein product		601925		GDIA1		9186513	Standard	NM_001185077		Approved	RHOGDI	uc002kbq.3	P52565		ENST00000269321.7:c.147A>G	17.37:g.79827660T>C		61	1		20	19	NM_004309	0	1	31	294	262	A8MXW0|B2R5X1|B4DDD3|B4DUV9|Q6IBM5	Silent	SNP	ENST00000269321.7	37	CCDS11788.1																																																																																			.		0.657	ARHGDIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441679.2	NM_004309	
CEP192	55125	hgsc.bcm.edu;broad.mit.edu	37	18	13059087	13059087	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr18:13059087C>T	ENST00000325971.8	+	19	4069	c.2476C>T	c.(2476-2478)Ctt>Ttt	p.L826F	CEP192_ENST00000506447.1_Missense_Mutation_p.L1422F|CEP192_ENST00000430049.2_Missense_Mutation_p.L947F			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	826					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GAAGGTGGATCTTTCAACATA	0.363																																					p.L1422F		.											.	CEP192-27	0			c.C4264T						.						79.0	75.0	76.0					18																	13059087		2203	4300	6503	SO:0001583	missense	55125	exon21			GTGGATCTTTCAA	AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25515	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 62"""					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.2476C>T	18.37:g.13059087C>T	ENSP00000317156:p.Leu826Phe	99	0		69	4	NM_032142	0	0	0	0	0	A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	ENST00000325971.8	37		.	.	.	.	.	.	.	.	.	.	C	11.26	1.587374	0.28268	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049	T;T;T	0.25414	1.8;1.8;1.8	5.08	2.23	0.28157	.	0.375039	0.28257	N	0.016010	T	0.14700	0.0355	N	0.21142	0.635	0.31358	N	0.681662	B;B;B	0.25390	0.023;0.016;0.125	B;B;B	0.26202	0.016;0.015;0.067	T	0.10543	-1.0625	10	0.33940	T	0.23	-14.9389	6.2462	0.20818	0.2609:0.595:0.0:0.1441	.	947;1422;826	C9JT09;E9PF99;Q8TEP8	.;.;CE192_HUMAN	F	1422;826;826;947	ENSP00000427550:L1422F;ENSP00000317156:L826F;ENSP00000389190:L947F	ENSP00000317156:L826F	L	+	1	0	CEP192	13049087	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.377000	0.34317	0.634000	0.30469	0.591000	0.81541	CTT	.		0.363	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142	
POTEC	388468	broad.mit.edu	37	18	14533105	14533105	+	Missense_Mutation	SNP	G	G	C	rs45610131	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr18:14533105G>C	ENST00000358970.5	-	5	1009	c.1010C>G	c.(1009-1011)tCt>tGt	p.S337C	POTEC_ENST00000389891.4_5'UTR|RNU6-1021P_ENST00000363262.1_RNA	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	337				S -> C (in Ref. 2; AAI40941). {ECO:0000305}.						NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						CGTCTGTCCAGATAGATCTTG	0.358																																					p.S337C		.											.	POTEC-3	0			c.C1010G						.																																			SO:0001583	missense	388468	exon5			TGTCCAGATAGAT	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.1010C>G	18.37:g.14533105G>C	ENSP00000351856:p.Ser337Cys	514	0		344	9	NM_001137671	0	0	1	1	0		Missense_Mutation	SNP	ENST00000358970.5	37	CCDS45835.1	.	.	.	.	.	.	.	.	.	.	G	0.148	-1.094692	0.01858	.	.	ENSG00000183206	ENST00000358970;ENST00000389891	T	0.66280	-0.2	1.09	-2.18	0.07037	Ankyrin repeat-containing domain (4);	.	.	.	.	T	0.56558	0.1993	L	0.37697	1.125	0.80722	P	0.0	D	0.64830	0.994	P	0.60345	0.873	T	0.52238	-0.8602	8	0.38643	T	0.18	.	0.092	0.00040	0.2399:0.2135:0.2549:0.2917	.	337	B2RU33	POTEC_HUMAN	C	337	ENSP00000351856:S337C	ENSP00000351856:S337C	S	-	2	0	POTEC	14523105	0.000000	0.05858	0.001000	0.08648	0.035000	0.12851	-2.190000	0.01247	-1.507000	0.01803	0.194000	0.17425	TCT	C|1.000;|0.000		0.358	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269	
OSBPL1A	114876	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	18	21739840	21739840	+	IGR	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr18:21739840A>G	ENST00000319481.3	-	0	4195				CABYR_ENST00000327201.6_Missense_Mutation_p.N218D|CABYR_ENST00000399496.3_Missense_Mutation_p.N316D|CABYR_ENST00000415309.2_Intron|RP11-799B12.4_ENST00000583267.1_lincRNA|CABYR_ENST00000399499.1_Missense_Mutation_p.N316D|CABYR_ENST00000581397.1_Missense_Mutation_p.N316D	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					CCAGAATGCTAATCCTCCAAG	0.443																																					p.N316D		.											.	CABYR-90	0			c.A946G						.						147.0	145.0	145.0					18																	21739840		2203	4300	6503	SO:0001628	intergenic_variant	26256	exon5			AATGCTAATCCTC	AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"""Oxysterol binding proteins"", ""Ankyrin repeat domain containing"""	16398	protein-coding gene	gene with protein product		606730	"""oxysterol binding protein-like 1B"""	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944		18.37:g.21739840A>G		86	0		55	40	NM_153769	0	0	0	0	0	B7Z7D3|Q9BZF5|Q9NW87	Missense_Mutation	SNP	ENST00000319481.3	37	CCDS11884.1	.	.	.	.	.	.	.	.	.	.	A	15.54	2.862837	0.51482	.	.	ENSG00000154040	ENST00000399496;ENST00000327201;ENST00000399499	T;T	0.45668	0.89;0.89	4.72	4.72	0.59763	.	.	.	.	.	T	0.23451	0.0567	N	0.19112	0.55	0.80722	D	1	P	0.40731	0.728	B	0.30572	0.117	T	0.06023	-1.0850	9	0.24483	T	0.36	.	12.5761	0.56365	1.0:0.0:0.0:0.0	.	316	O75952-3	.	D	316;218;316	ENSP00000382419:N316D;ENSP00000382421:N316D	ENSP00000317095:N218D	N	+	1	0	CABYR	19993838	1.000000	0.71417	1.000000	0.80357	0.736000	0.42039	2.572000	0.45999	1.977000	0.57605	0.460000	0.39030	AAT	.		0.443	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254902.1	NM_080597	
MYO5B	4645	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	18	47429038	47429038	+	Missense_Mutation	SNP	C	C	T	rs564864501		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr18:47429038C>T	ENST00000285039.7	-	21	3036	c.2737G>A	c.(2737-2739)Gca>Aca	p.A913T	MYO5B_ENST00000324581.6_Missense_Mutation_p.A54T	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	913	Arg-rich.|IQ 6. {ECO:0000255|PROSITE- ProRule:PRU00116}.				endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		AGATGCTCTGCTGAGCGGGCC	0.607																																					p.A913T		.											.	MYO5B-72	0			c.G2737A						.						67.0	72.0	70.0					18																	47429038		2024	4165	6189	SO:0001583	missense	4645	exon21			GCTCTGCTGAGCG	AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"""Myosins / Myosin superfamily : Class V"""	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.2737G>A	18.37:g.47429038C>T	ENSP00000285039:p.Ala913Thr	71	0		56	40	NM_001080467	0	0	0	13	13	B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	SNP	ENST00000285039.7	37	CCDS42436.1	.	.	.	.	.	.	.	.	.	.	C	32	5.158480	0.94686	.	.	ENSG00000167306	ENST00000285039;ENST00000324581	T;T	0.19105	2.17;2.17	5.63	5.63	0.86233	.	0.125328	0.52532	D	0.000080	T	0.43986	0.1272	M	0.75264	2.295	0.80722	D	1	B;D	0.89917	0.011;1.0	B;D	0.67548	0.015;0.952	T	0.26849	-1.0091	10	0.07482	T	0.82	.	19.6675	0.95898	0.0:1.0:0.0:0.0	.	913;54	Q9ULV0;Q9H6Y6	MYO5B_HUMAN;.	T	913;54	ENSP00000285039:A913T;ENSP00000315531:A54T	ENSP00000285039:A913T	A	-	1	0	MYO5B	45683036	1.000000	0.71417	0.330000	0.25442	0.933000	0.57130	7.396000	0.79891	2.826000	0.97356	0.655000	0.94253	GCA	.		0.607	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2		
TXNL1	9352	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	18	54293682	54293682	+	Frame_Shift_Del	DEL	C	C	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr18:54293682delC	ENST00000217515.6	-	2	309	c.105delG	c.(103-105)gggfs	p.G35fs	TXNL1_ENST00000590954.1_Frame_Shift_Del_p.G35fs|TXNL1_ENST00000540155.1_5'UTR	NM_004786.2	NP_004777.1	O43396	TXNL1_HUMAN	thioredoxin-like 1	35	Thioredoxin.				cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	disulfide oxidoreductase activity (GO:0015036)|protein disulfide oxidoreductase activity (GO:0015035)			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(59;0.193)|Colorectal(16;0.211)		TCAAACATGGCCCACACCTGT	0.353																																					p.G35fs		.											.	TXNL1-90	0			c.105delG						.						100.0	103.0	102.0					18																	54293682		2203	4300	6503	SO:0001589	frameshift_variant	9352	exon2			ACATGGCCCACAC	AF003938	CCDS11961.1	18q21.31	2011-01-17	2004-05-06	2004-05-07	ENSG00000091164	ENSG00000091164			12436	protein-coding gene	gene with protein product	"""thioredoxin-like, 32kD"""	603049	"""thioredoxin-like, 32kDa"""	TXNL		9473519, 9668102	Standard	NM_004786		Approved	Txl, TRP32	uc002lgg.3	O43396	OTTHUMG00000132722	ENST00000217515.6:c.105delG	18.37:g.54293682delC	ENSP00000217515:p.Gly35fs	160	0		87	64	NM_004786	0	0	0	0	0		Frame_Shift_Del	DEL	ENST00000217515.6	37	CCDS11961.1																																																																																			.		0.353	TXNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256064.2		
NEDD4L	23327	broad.mit.edu	37	18	55816791	55816791	+	Intron	SNP	G	G	A	rs4149601	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr18:55816791G>A	ENST00000400345.3	+	2	331				NEDD4L_ENST00000382850.4_Intron|NEDD4L_ENST00000356462.6_Intron|NEDD4L_ENST00000588516.1_Intron|NEDD4L_ENST00000435432.2_5'UTR|NEDD4L_ENST00000456986.1_Intron|NEDD4L_ENST00000256832.7_Intron|NEDD4L_ENST00000256830.9_Intron|NEDD4L_ENST00000586263.1_Splice_Site_p.Q8Q|NEDD4L_ENST00000357895.5_Splice_Site_p.Q8Q|NEDD4L_ENST00000589054.1_Intron	NM_001144967.2	NP_001138439.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase						cellular sodium ion homeostasis (GO:0006883)|excretion (GO:0007588)|gene expression (GO:0010467)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cation channel activity (GO:2001259)|positive regulation of caveolin-mediated endocytosis (GO:2001288)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of sodium ion transport (GO:0010765)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane depolarization (GO:0003254)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of protein catabolic process (GO:0042176)|regulation of tight junction assembly (GO:2000810)|response to metal ion (GO:0010038)|response to salt stress (GO:0009651)|sodium ion transport (GO:0006814)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|ventricular cardiac muscle cell action potential (GO:0086005)|viral life cycle (GO:0019058)|viral process (GO:0016032)|water homeostasis (GO:0030104)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ion channel binding (GO:0044325)|ligase activity (GO:0016874)|potassium channel inhibitor activity (GO:0019870)|potassium channel regulator activity (GO:0015459)|sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						CATTTGAGCAGGTAACACTCG	0.433													A|||	1383	0.276158	0.3608	0.2089	5008	,	,		21751	0.2113		0.3539	False		,,,				2504	0.1963				p.Q8Q		.											.	NEDD4L-658	0			c.G24A	GRCh37	CS024266	NEDD4L	S	rs4149601	.	A	,,,,,,	453,931		66,321,305	189.0	166.0	173.0		,,,24,24,,	2.8	0.0	18	dbSNP_110	173	1101,2081		196,709,686	yes	intron,utr-5,intron,coding-synonymous-near-splice,coding-synonymous-near-splice,utr-5,intron	NEDD4L	NM_001144964.1,NM_001144965.1,NM_001144967.2,NM_001144968.1,NM_001144969.1,NM_001144971.1,NM_015277.5	,,,,,,	262,1030,991	AA,AG,GG		34.6009,32.7312,34.0342	,,,,,,	,,,8/968,8/948,,	55816791	1554,3012	692	1591	2283	SO:0001627	intron_variant	23327	exon1			TGAGCAGGTAACA	AF210730	CCDS45872.1, CCDS45873.1, CCDS45874.1, CCDS45875.1, CCDS45876.1, CCDS58632.1, CCDS59323.1	18q21.31	2014-08-12	2012-02-23		ENSG00000049759				7728	protein-coding gene	gene with protein product		606384	"""neural precursor cell expressed, developmentally down-regulated 4-like"""			10594025, 11244092, 18322022	Standard	NM_001144965		Approved	KIAA0439, RSP5, NEDD4-2	uc002lgy.3	Q96PU5	OTTHUMG00000179875	ENST00000400345.3:c.49-16229G>A	18.37:g.55816791G>A		124	0		83	3	NM_001144968	0	0	0	0	0	O43165|Q3LSM7|Q7Z5F1|Q7Z5F2|Q7Z5N3|Q8N5A7|Q8WUU9|Q9BW58|Q9H2W4|Q9NT88	Silent	SNP	ENST00000400345.3	37	CCDS45872.1																																																																																			G|0.696;A|0.304		0.433	NEDD4L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448749.1		
ATP9B	374868	hgsc.bcm.edu	37	18	76829525	76829525	+	Missense_Mutation	SNP	A	A	G	rs4078115	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr18:76829525A>G	ENST00000426216.2	+	1	132	c.115A>G	c.(115-117)Agc>Ggc	p.S39G	ATP9B_ENST00000591464.1_3'UTR|ATP9B_ENST00000307671.7_Missense_Mutation_p.S39G|ATP9B_ENST00000586722.1_Missense_Mutation_p.S39G|ATP9B_ENST00000458297.2_5'UTR	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	39			S -> G (in dbSNP:rs4078115). {ECO:0000269|PubMed:15489334}.		establishment of protein localization to Golgi (GO:0072600)|phospholipid translocation (GO:0045332)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		CGACCGGCACAGCAGGTAACC	0.771													a|||	1574	0.314297	0.2277	0.2046	5008	,	,		9814	0.4494		0.2565	False		,,,				2504	0.4294				p.S39G		.											.	ATP9B-93	0			c.A115G						.		GLY/SER	504,2920		44,416,1252	3.0	4.0	4.0		115	-0.3	1.0	18	dbSNP_108	4	1215,5401		129,957,2222	no	missense	ATP9B	NM_198531.3	56	173,1373,3474	GG,GA,AA		18.3646,14.7196,17.1215	benign	39/1148	76829525	1719,8321	1712	3308	5020	SO:0001583	missense	374868	exon1			CGGCACAGCAGGT	R51412	CCDS12014.1	18q23	2010-04-20	2007-09-19		ENSG00000166377	ENSG00000166377		"""ATPases / P-type"""	13541	protein-coding gene	gene with protein product		614446	"""ATPase, Class II, type 9B"""			9548971, 11015572	Standard	NM_198531		Approved	ATPIIB	uc002lmx.3	O43861	OTTHUMG00000132898	ENST00000426216.2:c.115A>G	18.37:g.76829525A>G	ENSP00000398076:p.Ser39Gly	0	0		11	11	NM_198531	0	0	0	0	0	O60872|Q08AD8|Q08AD9	Missense_Mutation	SNP	ENST00000426216.2	37	CCDS12014.1	670	0.3067765567765568	104	0.21138211382113822	83	0.2292817679558011	281	0.49125874125874125	202	0.26649076517150394	a	7.584	0.669300	0.14776	0.147196	0.183646	ENSG00000166377	ENST00000426216;ENST00000307671	T;T	0.56103	0.48;0.48	2.56	-0.308	0.12773	.	1.710450	0.03865	N	0.274617	T	0.00012	0.0000	N	0.03608	-0.345	0.09310	P	0.99999999821082	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.41016	-0.9532	9	0.23302	T	0.38	.	4.8264	0.13417	0.5235:0.0:0.4765:0.0	rs4078115;rs4327119	39;39;39	O43861;O43861-2;B4DJ94	ATP9B_HUMAN;.;.	G	39	ENSP00000398076:S39G;ENSP00000304500:S39G	ENSP00000304500:S39G	S	+	1	0	ATP9B	74930513	1.000000	0.71417	0.996000	0.52242	0.256000	0.26092	1.165000	0.31822	-0.197000	0.10350	-0.465000	0.05216	AGC	A|0.693;G|0.307		0.771	ATP9B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256402.3	NM_198531	
PPAP2C	8612	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	288051	288051	+	Missense_Mutation	SNP	G	G	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:288051G>T	ENST00000269812.3	-	2	222	c.173C>A	c.(172-174)gCt>gAt	p.A58D	PPAP2C_ENST00000327790.3_Missense_Mutation_p.A79D|PPAP2C_ENST00000434325.2_Missense_Mutation_p.A2D	NM_003712.2|NM_177526.1	NP_003703.1|NP_803545.1	O43688	LPP2_HUMAN	phosphatidic acid phosphatase type 2C	58					dephosphorylation (GO:0016311)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidate phosphatase activity (GO:0008195)|phosphoprotein phosphatase activity (GO:0004721)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)|skin(1)	5		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		GGTGACCCCAGCCATGAGCCC	0.632																																					p.A79D		.											.	PPAP2C-90	0			c.C236A						.						141.0	118.0	126.0					19																	288051		2203	4300	6503	SO:0001583	missense	8612	exon2			ACCCCAGCCATGA	AF035959	CCDS12023.1, CCDS12024.1, CCDS45889.1	19p13	2009-05-27				ENSG00000141934	3.1.3.4		9230	protein-coding gene	gene with protein product		607126				9570154, 9607309	Standard	NM_177543		Approved	PAP-2c, LPP2	uc002loh.3	O43688		ENST00000269812.3:c.173C>A	19.37:g.288051G>T	ENSP00000269812:p.Ala58Asp	196	0		321	107	NM_177543	0	0	109	121	12	A6NLV0|E9PAY8	Missense_Mutation	SNP	ENST00000269812.3	37	CCDS12023.1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.118363	0.37339	.	.	ENSG00000141934	ENST00000269812;ENST00000327790;ENST00000434325	T;T;T	0.75704	-0.96;-0.96;1.32	4.58	2.31	0.28768	.	0.128287	0.50627	D	0.000106	T	0.79953	0.4535	L	0.47016	1.485	0.44018	D	0.996731	P;D	0.76494	0.849;0.999	B;D	0.72625	0.439;0.978	T	0.76984	-0.2756	10	0.37606	T	0.19	-15.517	13.4128	0.60952	0.0:0.3018:0.6982:0.0	.	58;79	O43688;O43688-2	LPP2_HUMAN;.	D	58;79;2	ENSP00000269812:A58D;ENSP00000329697:A79D;ENSP00000388565:A2D	ENSP00000269812:A58D	A	-	2	0	PPAP2C	239051	1.000000	0.71417	0.007000	0.13788	0.249000	0.25844	5.868000	0.69605	0.429000	0.26202	0.561000	0.74099	GCT	.		0.632	PPAP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451777.2		
ODF3L2	284451	ucsc.edu;mdanderson.org	37	19	474730	474730	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:474730G>A	ENST00000315489.4	-	1	253	c.18C>T	c.(16-18)tgC>tgT	p.C6C	ODF3L2_ENST00000382696.3_Silent_p.C6C	NM_182577.2	NP_872383.1	Q3SX64	OD3L2_HUMAN	outer dense fiber of sperm tails 3-like 2	6						cytoplasmic microtubule (GO:0005881)				large_intestine(1)|lung(2)	3						GGGTGGAGTCGCAGCTGAGGG	0.721																																					p.C6C		.											.	ODF3L2-68	0			c.C18T						.																																			SO:0001819	synonymous_variant	284451	exon1			GGAGTCGCAGCTG	AK097378	CCDS12027.1	19p13.3	2010-04-23	2008-07-04	2008-07-04		ENSG00000181781			26841	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 19"""	C19orf19		14702039	Standard	NM_182577		Approved	FLJ40059	uc002lor.3	Q3SX64		ENST00000315489.4:c.18C>T	19.37:g.474730G>A		24	1		114	27	NM_182577	0	0	0	0	0	Q3SX65|Q8N1L2	Silent	SNP	ENST00000315489.4	37	CCDS12027.1																																																																																			.		0.721	ODF3L2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451849.2	NM_182577	
ARID3A	1820	hgsc.bcm.edu	37	19	929678	929678	+	Silent	SNP	G	G	A	rs3826948	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:929678G>A	ENST00000263620.3	+	2	477	c.150G>A	c.(148-150)gaG>gaA	p.E50E	AC005391.2_ENST00000585647.1_RNA	NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT-like)	50						cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|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)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		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)		GAGAGCCCGAGAGTGCCCGGA	0.766													g|||	2308	0.460863	0.1112	0.487	5008	,	,		7932	0.6756		0.6223	False		,,,				2504	0.5276				p.E50E	Pancreas(29;54 1022 32760 50921)	.											.	ARID3A-90	0			c.G150A						.	G		470,2552		61,348,1102	3.0	4.0	3.0		150	1.1	0.4	19	dbSNP_107	3	3721,3153		1076,1569,792	no	coding-synonymous	ARID3A	NM_005224.2		1137,1917,1894	AA,AG,GG		45.8685,15.5526,42.3504		50/594	929678	4191,5705	1511	3437	4948	SO:0001819	synonymous_variant	1820	exon2			GCCCGAGAGTGCC	U88047	CCDS12050.1	19p13.3	2013-02-07	2006-11-08	2004-01-30		ENSG00000116017		"""-"""	3031	protein-coding gene	gene with protein product		603265	"""dead ringer-like 1 (Drosophila)"", ""AT rich interactive domain 3A (BRIGHT- like)"""	DRIL1		9722953	Standard	NM_005224		Approved	BRIGHT	uc002lql.3	Q99856		ENST00000263620.3:c.150G>A	19.37:g.929678G>A		2	0		5	5	NM_005224	0	0	0	0	0	Q5I858|Q6P9C6|Q8IZA7|Q8N4Z3	Silent	SNP	ENST00000263620.3	37	CCDS12050.1																																																																																			T|0.495;C|0.504		0.766	ARID3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458219.1	NM_005224	
ARID3A	1820	hgsc.bcm.edu	37	19	929753	929753	+	Silent	SNP	A	A	G	rs1799595	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:929753A>G	ENST00000263620.3	+	2	552	c.225A>G	c.(223-225)ccA>ccG	p.P75P	AC005391.2_ENST00000585647.1_RNA	NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT-like)	75						cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|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)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		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)		TGGGACACCCAGCCAGCCCCG	0.751													t|||	4428	0.884185	0.9062	0.804	5008	,	,		8534	0.998		0.836	False		,,,				2504	0.8436				p.P75P	Pancreas(29;54 1022 32760 50921)	.											.	ARID3A-90	0			c.A225G						.	G		3389,305		1555,279,13	4.0	5.0	5.0		225	-6.8	0.0	19	dbSNP_89	5	6619,1123		2834,951,86	no	coding-synonymous	ARID3A	NM_005224.2		4389,1230,99	GG,GA,AA		14.5053,8.2566,12.4869		75/594	929753	10008,1428	1847	3871	5718	SO:0001819	synonymous_variant	1820	exon2			ACACCCAGCCAGC	U88047	CCDS12050.1	19p13.3	2013-02-07	2006-11-08	2004-01-30		ENSG00000116017		"""-"""	3031	protein-coding gene	gene with protein product		603265	"""dead ringer-like 1 (Drosophila)"", ""AT rich interactive domain 3A (BRIGHT- like)"""	DRIL1		9722953	Standard	NM_005224		Approved	BRIGHT	uc002lql.3	Q99856		ENST00000263620.3:c.225A>G	19.37:g.929753A>G		0	0		15	15	NM_005224	0	0	0	5	5	Q5I858|Q6P9C6|Q8IZA7|Q8N4Z3	Silent	SNP	ENST00000263620.3	37	CCDS12050.1																																																																																			A|0.114;G|0.886		0.751	ARID3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458219.1	NM_005224	
WDR18	57418	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	985942	985942	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:985942G>A	ENST00000251289.5	+	2	311	c.288G>A	c.(286-288)ctG>ctA	p.L96L	WDR18_ENST00000587001.2_Silent_p.L96L|WDR18_ENST00000591997.1_3'UTR	NM_024100.3	NP_077005.2	Q9BV38	WDR18_HUMAN	WD repeat domain 18	96					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|lung(2)|skin(2)	7		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		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)		TCTACGTCCTGGCAGGAGTTG	0.577																																					p.L96L		.											.	WDR18-91	0			c.G288A						.						121.0	97.0	105.0					19																	985942		2203	4300	6503	SO:0001819	synonymous_variant	57418	exon2			CGTCCTGGCAGGA		CCDS12051.1	19p13.3	2013-01-09				ENSG00000065268		"""WD repeat domain containing"""	17956	protein-coding gene	gene with protein product	"""Involved in Processing ITS2 3 homolog (S. cerevisiae)"""					22190735	Standard	NM_024100		Approved	Ipi3	uc002lqm.1	Q9BV38		ENST00000251289.5:c.288G>A	19.37:g.985942G>A		173	0		201	88	NM_024100	0	0	26	55	29	O60390|Q9BWR2	Silent	SNP	ENST00000251289.5	37	CCDS12051.1																																																																																			.		0.577	WDR18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458225.2		
SGTA	6449	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	2763724	2763724	+	Missense_Mutation	SNP	C	C	T	rs374479958		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:2763724C>T	ENST00000221566.2	-	6	585	c.424G>A	c.(424-426)Gca>Aca	p.A142T		NM_003021.3	NP_003012.1	O43765	SGTA_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha	142					viral process (GO:0016032)	cytoplasm (GO:0005737)				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7		Hepatocellular(1079;0.137)		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)		ACCGCGCCTGCGTAGTTGCCG	0.667													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17153	0.0		0.0	False		,,,				2504	0.0				p.A142T		.											.	SGTA-91	0			c.G424A						.	C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	66.0	55.0	59.0		424	1.9	0.2	19		59	0,8600		0,0,4300	no	missense	SGTA	NM_003021.3	58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	142/314	2763724	1,13005	2203	4300	6503	SO:0001583	missense	6449	exon6			CGCCTGCGTAGTT	AJ223828	CCDS12094.1	19p13	2013-01-10	2003-11-24	2003-11-26		ENSG00000104969		"""Tetratricopeptide (TTC) repeat domain containing"""	10819	protein-coding gene	gene with protein product		603419	"""small glutamine-rich tetratricopeptide repeat (TPR)-containing"""	SGT		9740675, 12735788	Standard	NM_003021		Approved		uc002lwi.1	O43765		ENST00000221566.2:c.424G>A	19.37:g.2763724C>T	ENSP00000221566:p.Ala142Thr	89	0		122	51	NM_003021	0	0	100	201	101	D6W610|Q6FIA9|Q9BTZ9	Missense_Mutation	SNP	ENST00000221566.2	37	CCDS12094.1	.	.	.	.	.	.	.	.	.	.	C	0.183	-1.060782	0.01950	2.27E-4	0.0	ENSG00000104969	ENST00000221566	T	0.30182	1.54	4.03	1.86	0.25419	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.161726	0.53938	N	0.000043	T	0.11879	0.0289	N	0.04090	-0.28	0.41553	D	0.988589	B	0.09022	0.002	B	0.12156	0.007	T	0.15093	-1.0449	10	0.12430	T	0.62	-16.8748	8.5917	0.33690	0.0:0.8054:0.0:0.1946	.	142	O43765	SGTA_HUMAN	T	142	ENSP00000221566:A142T	ENSP00000221566:A142T	A	-	1	0	SGTA	2714724	0.945000	0.32115	0.173000	0.22940	0.026000	0.11368	0.413000	0.21148	0.196000	0.20367	0.462000	0.41574	GCA	.		0.667	SGTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451448.2	NM_003021	
ZNF77	58492	broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	2934175	2934175	+	Missense_Mutation	SNP	G	G	A	rs151130031	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:2934175G>A	ENST00000314531.4	-	4	1042	c.950C>T	c.(949-951)aCg>aTg	p.T317M		NM_021217.2	NP_067040.1	Q15935	ZNF77_HUMAN	zinc finger protein 77	317					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T317M(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				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)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCAGTGTGCGTCCTCACGTG	0.458													G|||	6	0.00119808	0.0	0.0	5008	,	,		26340	0.001		0.002	False		,,,				2504	0.0031				p.T317M		.											.	ZNF77-91	1	Substitution - Missense(1)	endometrium(1)	c.C950T						.	G	MET/THR	0,4406		0,0,2203	166.0	149.0	155.0		950	-2.7	0.0	19	dbSNP_134	155	14,8586	10.5+/-38.8	0,14,4286	yes	missense	ZNF77	NM_021217.2	81	0,14,6489	AA,AG,GG		0.1628,0.0,0.1076	possibly-damaging	317/546	2934175	14,12992	2203	4300	6503	SO:0001583	missense	58492	exon4			GTGTGCGTCCTCA	X65230	CCDS12099.1	19p13.3	2013-01-08	2006-05-12					"""Zinc fingers, C2H2-type"", ""-"""	13150	protein-coding gene	gene with protein product		194551	"""zinc finger protein 77 (pT1)"""			8478004	Standard	NM_021217		Approved	pT1	uc002lws.4	Q15935		ENST00000314531.4:c.950C>T	19.37:g.2934175G>A	ENSP00000319053:p.Thr317Met	192	1		174	71	NM_021217	0	0	5	5	0	Q86XJ3|Q9NPP0	Missense_Mutation	SNP	ENST00000314531.4	37	CCDS12099.1	4	0.0018315018315018315	0	0.0	0	0.0	1	0.0017482517482517483	3	0.00395778364116095	G	12.21	1.870625	0.33069	0.0	0.001628	ENSG00000175691	ENST00000341064;ENST00000314531	T	0.20332	2.08	2.91	-2.67	0.06059	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12561	0.0305	L	0.43757	1.38	0.09310	N	1	P	0.34562	0.457	B	0.24848	0.056	T	0.17440	-1.0369	9	0.51188	T	0.08	.	4.345	0.11129	0.3988:0.1781:0.423:0.0	.	317	Q15935	ZNF77_HUMAN	M	111;317	ENSP00000319053:T317M	ENSP00000319053:T317M	T	-	2	0	ZNF77	2885175	0.000000	0.05858	0.001000	0.08648	0.114000	0.19823	-0.434000	0.06939	-0.331000	0.08501	0.491000	0.48974	ACG	G|0.998;A|0.002		0.458	ZNF77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451924.1	NM_021217	
EEF2	1938	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	3979353	3979353	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:3979353C>T	ENST00000309311.6	-	11	1775	c.1687G>A	c.(1687-1689)Gag>Aag	p.E563K		NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	563					cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|positive regulation of gene expression (GO:0010628)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation activator activity (GO:0008494)|translation elongation factor activity (GO:0003746)			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGTGGTCCTCCTCCAGGTCC	0.637																																					p.E563K	Colon(165;1804 1908 4071 6587 18799)	.											.	EEF2-90	0			c.G1687A						.						92.0	98.0	96.0					19																	3979353		2203	4300	6503	SO:0001583	missense	1938	exon11			GGTCCTCCTCCAG	Z11692	CCDS12117.1	19p13.3	2012-09-20			ENSG00000167658	ENSG00000167658			3214	protein-coding gene	gene with protein product	"""polypeptidyl-tRNA translocase"""	130610		EF2		2610926, 6427766	Standard	NM_001961		Approved	EEF-2	uc002lze.3	P13639		ENST00000309311.6:c.1687G>A	19.37:g.3979353C>T	ENSP00000307940:p.Glu563Lys	104	0		134	63	NM_001961	0	2	2086	3761	1673	B2RMP5|D6W618|Q58J86	Missense_Mutation	SNP	ENST00000309311.6	37	CCDS12117.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.689515	0.88735	.	.	ENSG00000167658	ENST00000543343;ENST00000309311	T	0.71934	-0.61	5.45	5.45	0.79879	Elongation factor G/III/V (1);	0.000000	0.85682	D	0.000000	T	0.73737	0.3625	M	0.86178	2.8	0.80722	D	1	B	0.28512	0.214	B	0.20767	0.031	T	0.72343	-0.4322	10	0.31617	T	0.26	-59.4388	18.2479	0.89993	0.0:1.0:0.0:0.0	.	563	P13639	EF2_HUMAN	K	563	ENSP00000307940:E563K	ENSP00000307940:E563K	E	-	1	0	EEF2	3930353	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	7.731000	0.84895	2.555000	0.86185	0.561000	0.74099	GAG	.		0.637	EEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457615.2	NM_001961	
ANKRD24	170961	hgsc.bcm.edu	37	19	4217956	4217956	+	Silent	SNP	A	A	G	rs6510794	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:4217956A>G	ENST00000600132.1	+	18	3075	c.2799A>G	c.(2797-2799)gcA>gcG	p.A933A	ANKRD24_ENST00000318934.4_Silent_p.A933A|ANKRD24_ENST00000262970.5_Silent_p.A1023A	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	933										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		GGGGCCGGGCAGCCAGTCTGG	0.766													G|||	2256	0.450479	0.5166	0.4164	5008	,	,		6898	0.4692		0.4751	False		,,,				2504	0.3405				p.A933A		.											.	ANKRD24-68	0			c.A2799G						.	G		1357,2019		337,683,668	3.0	6.0	5.0		2799	0.3	1.0	19	dbSNP_116	5	2607,4473		599,1409,1532	no	coding-synonymous	ANKRD24	NM_133475.1		936,2092,2200	GG,GA,AA		36.822,40.1955,37.9112		933/1147	4217956	3964,6492	1688	3540	5228	SO:0001819	synonymous_variant	170961	exon18			CCGGGCAGCCAGT	AB075861	CCDS45925.1	19p13.3	2013-01-10				ENSG00000089847		"""Ankyrin repeat domain containing"""	29424	protein-coding gene	gene with protein product						11853319	Standard	NM_133475		Approved	KIAA1981	uc010dtt.1	Q8TF21		ENST00000600132.1:c.2799A>G	19.37:g.4217956A>G		0	0		12	11	NM_133475	0	0	0	0	0	O75268|O95781	Silent	SNP	ENST00000600132.1	37	CCDS45925.1																																																																																			A|0.541;G|0.459		0.766	ANKRD24-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458188.1	XM_114000	
CHAF1A	10036	broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	4423813	4423813	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:4423813C>T	ENST00000301280.5	+	7	1420	c.1319C>T	c.(1318-1320)gCa>gTa	p.A440V		NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	440	Arg/Glu/Lys-rich.				cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|identical protein binding (GO:0042802)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCATTAAAGCAGAGAAGGCC	0.507								Chromatin Structure																													p.A440V		.											.	CHAF1A-92	0			c.C1319T						.						88.0	78.0	81.0					19																	4423813		2203	4300	6503	SO:0001583	missense	10036	exon7			TTAAAGCAGAGAA	U20979	CCDS32875.1	19p13.3	2008-07-16				ENSG00000167670			1910	protein-coding gene	gene with protein product	"""chromatin assembly factor I (150 kDa)"""	601246				7600578	Standard	NM_005483		Approved	CAF1P150, CAF1B, CAF-1, CAF1, P150, MGC71229	uc002mal.3	Q13111		ENST00000301280.5:c.1319C>T	19.37:g.4423813C>T	ENSP00000301280:p.Ala440Val	88	2		87	27	NM_005483	0	0	0	0	0	Q6NXG5|Q7Z7K3|Q9UJY8	Missense_Mutation	SNP	ENST00000301280.5	37	CCDS32875.1	.	.	.	.	.	.	.	.	.	.	C	18.73	3.685912	0.68157	.	.	ENSG00000167670	ENST00000344143;ENST00000535117;ENST00000301280	T	0.07800	3.16	5.02	5.02	0.67125	.	.	.	.	.	T	0.27349	0.0671	M	0.68952	2.095	0.58432	D	0.999999	D	0.89917	1.0	D	0.74674	0.984	T	0.00645	-1.1629	9	0.87932	D	0	-22.0968	15.8386	0.78824	0.0:1.0:0.0:0.0	.	440	Q13111	CAF1A_HUMAN	V	440	ENSP00000301280:A440V	ENSP00000301280:A440V	A	+	2	0	CHAF1A	4374813	1.000000	0.71417	0.998000	0.56505	0.927000	0.56198	5.413000	0.66399	2.488000	0.83962	0.561000	0.74099	GCA	.		0.507	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458310.2	NM_005483	
UHRF1	29128	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	4930840	4930840	+	RNA	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:4930840C>T	ENST00000592666.1	+	0	1097				MIR4747_ENST00000584057.1_RNA			Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|histone monoubiquitination (GO:0010390)|histone ubiquitination (GO:0016574)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity (GO:2000373)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autoubiquitination (GO:0051865)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|replication fork (GO:0005657)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|hemi-methylated DNA-binding (GO:0044729)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		AGCTCCACGTCCAGGCCGGCG	0.652																																					.		.											.	UHRF1-522	0			.						.						60.0	68.0	65.0					19																	4930840		2126	4214	6340			29128	.			CCACGTCCAGGCC	AF129507	CCDS74262.1, CCDS74263.1	19p13.3	2012-04-20	2008-08-14		ENSG00000034063	ENSG00000276043		"""RING-type (C3HC4) zinc fingers"""	12556	protein-coding gene	gene with protein product		607990				10646863	Standard	NM_001048201		Approved	ICBP90, Np95, FLJ21925, RNF106	uc002mbo.3	Q96T88			19.37:g.4930840C>T		102	0		183	88	.	0	0	10	17	7	A0JBR2|A8K024|B2RBA9|Q2HIX7|Q8J022|Q9H6S6|Q9P115|Q9P1U7	RNA	SNP	ENST00000592666.1	37		.	.	.	.	.	.	.	.	.	.	C	9.820	1.185601	0.21870	.	.	ENSG00000034063	ENST00000262952;ENST00000455180;ENST00000543616;ENST00000398240	.	.	.	4.29	2.02	0.26589	Domain of unknown function DUF3590 (1);	0.800615	0.11168	N	0.592334	T	0.48857	0.1523	L	0.53249	1.67	0.26403	N	0.976384	P;P	0.42161	0.772;0.64	B;P	0.47891	0.309;0.56	T	0.57382	-0.7821	8	0.66056	D	0.02	-10.5619	6.5714	0.22541	0.1567:0.6617:0.0:0.1816	.	187;174	Q2HIX7;Q96T88	.;UHRF1_HUMAN	F	174;174;174;187	.	ENSP00000262952:S174F	S	+	2	0	UHRF1	4881840	0.032000	0.19561	0.026000	0.17262	0.026000	0.11368	0.425000	0.21346	1.025000	0.39708	0.491000	0.48974	TCC	.		0.652	UHRF1-006	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000450444.1	NM_001048201	
FUT6	2528	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	19	5831650	5831650	+	Missense_Mutation	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:5831650T>C	ENST00000318336.4	-	3	2123	c.929A>G	c.(928-930)aAg>aGg	p.K310R	FUT6_ENST00000524754.1_Missense_Mutation_p.K310R|FUT6_ENST00000592563.1_Missense_Mutation_p.K310R|FUT6_ENST00000286955.5_Missense_Mutation_p.K310R|FUT6_ENST00000527106.1_Missense_Mutation_p.K310R	NM_000150.2	NP_000141.1	P51993	FUT6_HUMAN	fucosyltransferase 6 (alpha (1,3) fucosyltransferase)	310					fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	6						GGCGTGGTCCTTGTCCAGCTC	0.632																																					p.K310R		.											.	FUT6-90	0			c.A929G						.						34.0	38.0	36.0					19																	5831650		2203	4291	6494	SO:0001583	missense	2528	exon3			TGGTCCTTGTCCA		CCDS12152.1	19p13.3	2013-02-26			ENSG00000156413	ENSG00000156413	2.4.1.65	"""Fucosyltransferases"""	4017	protein-coding gene	gene with protein product	"""alpha-(1,3)-fucosyltransferase"", ""galactoside 3-L-fucosyltransferase"""	136836				1520296, 7782074	Standard	NM_001040701		Approved	FT1A, FCT3A, FucT-VI, FLJ40754	uc002mdh.1	P51993	OTTHUMG00000167335	ENST00000318336.4:c.929A>G	19.37:g.5831650T>C	ENSP00000313398:p.Lys310Arg	1019	1		1343	347	NM_000150	0	0	0	0	0	A6NEX0|D6W637|Q9UND8	Missense_Mutation	SNP	ENST00000318336.4	37	CCDS12152.1	.	.	.	.	.	.	.	.	.	.	T	6.033	0.374492	0.11409	.	.	ENSG00000156413	ENST00000524754;ENST00000527106;ENST00000318336;ENST00000286955;ENST00000341530	T;T;T;T	0.27104	1.69;1.69;1.69;1.69	3.11	-1.26	0.09376	.	0.856095	0.09713	N	0.765475	T	0.18759	0.0450	L	0.38838	1.175	0.19300	N	0.999979	B;B	0.23937	0.094;0.035	B;B	0.28011	0.085;0.05	T	0.34950	-0.9808	10	0.32370	T	0.25	.	7.2034	0.25893	0.0:0.4847:0.0:0.5153	.	310;310	C9J8A2;P51993	.;FUT6_HUMAN	R	310	ENSP00000431708:K310R;ENSP00000432954:K310R;ENSP00000313398:K310R;ENSP00000286955:K310R	ENSP00000286955:K310R	K	-	2	0	FUT6	5782650	0.000000	0.05858	0.041000	0.18516	0.135000	0.20990	-1.482000	0.02320	-0.161000	0.10983	0.358000	0.22013	AAG	.		0.632	FUT6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394218.2	NM_000150	
MLLT1	4298	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	6213091	6213091	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:6213091G>A	ENST00000252674.7	-	12	1805	c.1642C>T	c.(1642-1644)Cgc>Tgc	p.R548C	MLLT1_ENST00000585588.1_5'Flank|CTC-503J8.6_ENST00000586154.1_lincRNA	NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	548					negative regulation of protein kinase activity (GO:0006469)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						TGCAGTTTGCGCACGGTGGTC	0.647			T	MLL	AL																																p.R548C		.		Dom	yes		19	19p13.3	4298	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (ENL)"""		L	.	MLLT1-658	0			c.C1642T						.						124.0	117.0	119.0					19																	6213091		2203	4300	6503	SO:0001583	missense	4298	exon12			GTTTGCGCACGGT		CCDS12160.1	19p13.3	2012-10-04	2001-11-28		ENSG00000130382	ENSG00000130382			7134	protein-coding gene	gene with protein product		159556	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 1"""				Standard	XM_005259561		Approved	ENL, LTG19, YEATS1	uc002mek.3	Q03111	OTTHUMG00000180757	ENST00000252674.7:c.1642C>T	19.37:g.6213091G>A	ENSP00000252674:p.Arg548Cys	140	0		215	102	NM_005934	0	0	9	16	7	Q14768	Missense_Mutation	SNP	ENST00000252674.7	37	CCDS12160.1	.	.	.	.	.	.	.	.	.	.	g	17.61	3.431665	0.62844	.	.	ENSG00000130382	ENST00000252674	.	.	.	4.34	2.17	0.27698	.	0.000000	0.85682	U	0.000000	T	0.70850	0.3271	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	T	0.71504	-0.4573	9	0.87932	D	0	-17.8164	7.9161	0.29818	0.0925:0.1645:0.743:0.0	.	548	Q03111	ENL_HUMAN	C	548	.	ENSP00000252674:R548C	R	-	1	0	MLLT1	6164091	1.000000	0.71417	0.997000	0.53966	0.948000	0.59901	5.382000	0.66213	0.804000	0.34136	0.580000	0.79431	CGC	.		0.647	MLLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452909.1	NM_005934	
GPR108	56927	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	19	6731283	6731283	+	Missense_Mutation	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:6731283T>C	ENST00000264080.7	-	16	1387	c.1361A>G	c.(1360-1362)tAc>tGc	p.Y454C	GPR108_ENST00000598626.1_5'UTR|GPR108_ENST00000430424.4_Missense_Mutation_p.Y212C	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108	454						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						GAAGTAGACGTAGCAGATGAC	0.677																																					p.Y454C		.											.	GPR108-68	0			c.A1361G						.						38.0	44.0	42.0					19																	6731283		2168	4263	6431	SO:0001583	missense	56927	exon16			TAGACGTAGCAGA		CCDS42479.1	19p13.3	2014-01-30				ENSG00000125734		"""GPCR / Unclassified : 7TM orphan receptors"""	17829	protein-coding gene	gene with protein product							Standard	NM_001080452		Approved	LUSTR2	uc002mfp.3	Q9NPR9	OTTHUMG00000170129	ENST00000264080.7:c.1361A>G	19.37:g.6731283T>C	ENSP00000264080:p.Tyr454Cys	53	0		115	49	NM_001080452	0	0	0	0	0	B9EJD7	Missense_Mutation	SNP	ENST00000264080.7	37	CCDS42479.1	.	.	.	.	.	.	.	.	.	.	T	11.33	1.606401	0.28623	.	.	ENSG00000125734	ENST00000548402;ENST00000264080;ENST00000430424	T	0.30448	1.53	3.79	2.76	0.32466	.	0.092768	0.45361	N	0.000365	T	0.53642	0.1809	M	0.89414	3.03	0.48830	D	0.999711	D	0.89917	1.0	D	0.97110	1.0	T	0.51521	-0.8695	10	0.87932	D	0	-21.1907	3.2321	0.06752	0.2044:0.1171:0.0:0.6784	.	454	Q9NPR9	GP108_HUMAN	C	46;454;212	ENSP00000264080:Y454C	ENSP00000264080:Y454C	Y	-	2	0	GPR108	6682283	1.000000	0.71417	0.238000	0.24106	0.026000	0.11368	3.408000	0.52651	0.375000	0.24679	0.254000	0.18369	TAC	.		0.677	GPR108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407508.2		
PNPLA6	10908	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	7622153	7622153	+	Missense_Mutation	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:7622153A>G	ENST00000221249.6	+	30	3697	c.3266A>G	c.(3265-3267)tAc>tGc	p.Y1089C	PNPLA6_ENST00000545201.2_Missense_Mutation_p.Y1062C|PNPLA6_ENST00000414982.3_Missense_Mutation_p.Y1137C|PNPLA6_ENST00000450331.3_Missense_Mutation_p.Y1089C|PNPLA6_ENST00000600737.1_Missense_Mutation_p.Y1127C	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	1128	Patatin.				angiogenesis (GO:0001525)|cell death (GO:0008219)|lipid catabolic process (GO:0016042)|organ morphogenesis (GO:0009887)|phosphatidylcholine metabolic process (GO:0046470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						GATGGCGGCTACATCAACAAT	0.677																																					p.Y1137C		.											.	PNPLA6-47	0			c.A3410G						.						50.0	43.0	45.0					19																	7622153		2202	4298	6500	SO:0001583	missense	10908	exon29			GCGGCTACATCAA	AJ004832	CCDS32891.1, CCDS54206.1, CCDS54207.1, CCDS59343.1	19p13.2	2013-09-11						"""Patatin-like phospholipase domain containing"""	16268	protein-coding gene	gene with protein product	"""neuropathy target esterase"""	603197				9576844, 16799181, 19029121	Standard	NM_006702		Approved	NTE, sws, iPLA2delta, SPG39	uc010xjq.2	Q8IY17		ENST00000221249.6:c.3266A>G	19.37:g.7622153A>G	ENSP00000221249:p.Tyr1089Cys	69	0		164	60	NM_001166111	0	0	35	69	34	A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Missense_Mutation	SNP	ENST00000221249.6	37	CCDS32891.1	.	.	.	.	.	.	.	.	.	.	a	17.79	3.474891	0.63737	.	.	ENSG00000032444	ENST00000221249;ENST00000545201;ENST00000414982;ENST00000450331	T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26	4.09	4.09	0.47781	Acyl transferase/acyl hydrolase/lysophospholipase (1);Patatin/Phospholipase A2-related (1);	0.000000	0.64402	D	0.000002	D	0.87771	0.6261	M	0.85542	2.76	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.89179	0.3542	10	0.87932	D	0	.	11.0965	0.48147	1.0:0.0:0.0:0.0	.	1128;1062;1127;1089	Q8IY17;F5H5K9;Q8IY17-3;Q8IY17-2	PLPL6_HUMAN;.;.;.	C	1089;1062;1137;1089	ENSP00000221249:Y1089C;ENSP00000443323:Y1062C;ENSP00000407509:Y1137C;ENSP00000394348:Y1089C	ENSP00000221249:Y1089C	Y	+	2	0	PNPLA6	7528153	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	9.006000	0.93592	1.726000	0.51525	0.397000	0.26171	TAC	.		0.677	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459275.1	NM_006702	
LRRC8E	80131	ucsc.edu;bcgsc.ca;mdanderson.org	37	19	7965669	7965669	+	Silent	SNP	C	C	T	rs3745385	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:7965669C>T	ENST00000306708.6	+	3	2363	c.2262C>T	c.(2260-2262)ggC>ggT	p.G754G	RN7SL115P_ENST00000392196.5_RNA|AC010336.1_ENST00000539278.1_5'UTR	NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E	754					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						AGCTCAAAGGCAACCGCTTAG	0.652													C|||	228	0.0455272	0.1029	0.0086	5008	,	,		16095	0.0823		0.0	False		,,,				2504	0.0031				p.G754G		.											.	LRRC8E-92	0			c.C2262T						.	C		407,3999		17,373,1813	35.0	40.0	38.0		2262	-1.9	1.0	19	dbSNP_107	38	8,8592		0,8,4292	no	coding-synonymous	LRRC8E	NM_025061.3		17,381,6105	TT,TC,CC		0.093,9.2374,3.1908		754/797	7965669	415,12591	2203	4300	6503	SO:0001819	synonymous_variant	80131	exon4			CAAAGGCAACCGC		CCDS12189.1	19p13.2	2008-02-05				ENSG00000171017			26272	protein-coding gene	gene with protein product		612891				12477932	Standard	NM_025061		Approved	FLJ23420	uc002mir.3	Q6NSJ5		ENST00000306708.6:c.2262C>T	19.37:g.7965669C>T		127	1		162	63	NM_001268284	0	0	2	7	5	B3KR78|Q2YDY3|Q7L236|Q8N3B0|Q9H5H8	Silent	SNP	ENST00000306708.6	37	CCDS12189.1																																																																																			C|0.956;T|0.044		0.652	LRRC8E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461354.1	NM_025061	
MAP2K7	5609	broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	7975940	7975940	+	Silent	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:7975940C>T	ENST00000397979.3	+	7	805	c.751C>T	c.(751-753)Ctg>Ttg	p.L251L	MAP2K7_ENST00000397983.3_Silent_p.L267L|MAP2K7_ENST00000545011.1_Silent_p.L293L|MAP2K7_ENST00000397981.3_Silent_p.L251L|CTD-3193O13.13_ENST00000595655.1_RNA	NM_145185.2	NP_660186.1	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	251	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of neuron apoptotic process (GO:0043525)|response to heat (GO:0009408)|response to osmotic stress (GO:0006970)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19						CAACATCCTGCTGGACGAGCG	0.637																																					p.L251L		.											.	MAP2K7-1450	0			c.C751T						.						36.0	41.0	39.0					19																	7975940		2108	4238	6346	SO:0001819	synonymous_variant	5609	exon7			ATCCTGCTGGACG	AF006689	CCDS42491.1, CCDS74277.1, CCDS74278.1	19p13.3-p13.2	2011-06-09			ENSG00000076984	ENSG00000076984	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6847	protein-coding gene	gene with protein product		603014		PRKMK7		9312068	Standard	XM_005272489		Approved	MKK7, Jnkk2	uc002mit.3	O14733	OTTHUMG00000137368	ENST00000397979.3:c.751C>T	19.37:g.7975940C>T		150	1		233	79	NM_145185	0	0	10	24	14	B2R9S5|D6W659|O14648|O14816|O60452|O60453|Q1PG43|Q8IY10	Silent	SNP	ENST00000397979.3	37	CCDS42491.1																																																																																			.		0.637	MAP2K7-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000267980.1		
FBN3	84467	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	8138131	8138131	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:8138131G>A	ENST00000600128.1	-	62	8167	c.7753C>T	c.(7753-7755)Cgc>Tgc	p.R2585C	FBN3_ENST00000270509.2_Missense_Mutation_p.R2585C|FBN3_ENST00000601739.1_Missense_Mutation_p.R2585C			Q75N90	FBN3_HUMAN	fibrillin 3	2585	EGF-like 43; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						AGAGTGTTGCGACAGGAGGCG	0.662																																					p.R2585C		.											.	FBN3-100	0			c.C7753T						.						34.0	38.0	37.0					19																	8138131		2203	4300	6503	SO:0001583	missense	84467	exon61			TGTTGCGACAGGA		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.7753C>T	19.37:g.8138131G>A	ENSP00000470498:p.Arg2585Cys	191	2		239	107	NM_032447	0	0	0	0	0	Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	G	13.89	2.373176	0.42105	.	.	ENSG00000142449	ENST00000270509;ENST00000341066	T	0.17370	2.28	4.39	3.28	0.37604	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.140230	0.49305	U	0.000142	T	0.20088	0.0483	L	0.39397	1.21	0.39726	D	0.971545	D;D	0.71674	0.977;0.998	P;P	0.57846	0.512;0.828	T	0.04723	-1.0931	10	0.38643	T	0.18	.	3.1553	0.06502	0.4555:0.0:0.5445:0.0	.	2585;648	Q75N90;Q6ZNB8	FBN3_HUMAN;.	C	2585;648	ENSP00000270509:R2585C	ENSP00000270509:R2585C	R	-	1	0	FBN3	8044131	1.000000	0.71417	0.653000	0.29593	0.029000	0.11900	3.527000	0.53517	1.990000	0.58119	0.561000	0.74099	CGC	.		0.662	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447	
KANK3	256949	hgsc.bcm.edu	37	19	8399635	8399635	+	Missense_Mutation	SNP	C	C	T	rs890853	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:8399635C>T	ENST00000593649.1	-	3	1141	c.1076G>A	c.(1075-1077)cGc>cAc	p.R359H	KANK3_ENST00000330915.3_Missense_Mutation_p.R359H			Q6NY19	KANK3_HUMAN	KN motif and ankyrin repeat domains 3	359			R -> H (in dbSNP:rs890853).							breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						CAGACTGGCGCGCAGCAGCTC	0.761													C|||	962	0.192093	0.093	0.3847	5008	,	,		10548	0.2113		0.2545	False		,,,				2504	0.1053				p.R359H		.											.	KANK3-90	0			c.G1076A						.						1.0	1.0	1.0					19																	8399635		1163	2476	3639	SO:0001583	missense	256949	exon3			CTGGCGCGCAGCA	AK128815	CCDS12199.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000186994		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	24796	protein-coding gene	gene with protein product		614611	"""ankyrin repeat domain 47"""	ANKRD47		17996375, 19554261	Standard	NM_198471		Approved	FLJ46061	uc010dwa.3	Q6NY19		ENST00000593649.1:c.1076G>A	19.37:g.8399635C>T	ENSP00000470728:p.Arg359His	2	0		9	4	NM_198471	0	0	0	0	0	Q6NZI1|Q6ZQR3|Q8IUV2	Missense_Mutation	SNP	ENST00000593649.1	37		505	0.23122710622710624	63	0.12804878048780488	131	0.36187845303867405	117	0.20454545454545456	194	0.2559366754617414	C	13.09	2.134512	0.37630	.	.	ENSG00000186994	ENST00000330915	T	0.54071	0.59	4.52	0.959	0.19624	.	.	.	.	.	T	0.00012	0.0000	L	0.29908	0.895	0.53688	P	2.8999999999945736E-5	B	0.16396	0.017	B	0.09377	0.004	T	0.33394	-0.9870	8	0.54805	T	0.06	-23.4019	6.9118	0.24338	0.0:0.5682:0.0:0.4318	rs890853	359	Q6NY19-2	.	H	359	ENSP00000328923:R359H	ENSP00000328923:R359H	R	-	2	0	KANK3	8305635	0.014000	0.17966	0.688000	0.30117	0.060000	0.15804	0.173000	0.16724	0.468000	0.27243	0.297000	0.19635	CGC	C|0.769;T|0.231		0.761	KANK3-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000461379.1	NM_198471	
ANGPTL4	51129	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	8436389	8436389	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:8436389G>A	ENST00000301455.2	+	6	1193	c.1022G>A	c.(1021-1023)tGc>tAc	p.C341Y	ANGPTL4_ENST00000393962.2_Missense_Mutation_p.C303Y|RAB11B-AS1_ENST00000597785.1_RNA|RAB11B-AS1_ENST00000597407.1_RNA|RAB11B-AS1_ENST00000593581.1_RNA|ANGPTL4_ENST00000541807.1_Missense_Mutation_p.C174Y	NM_139314.1	NP_647475.1	Q9BY76	ANGL4_HUMAN	angiopoietin-like 4	341	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cellular lipid metabolic process (GO:0044255)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of lipoprotein lipase activity (GO:0051005)|positive regulation of angiogenesis (GO:0045766)|protein homooligomerization (GO:0051260)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	enzyme inhibitor activity (GO:0004857)			large_intestine(1)|lung(1)|ovary(2)|skin(2)	6						GACAAGAACTGCGCCAAGAGC	0.647																																					p.C341Y		.											.	ANGPTL4-91	0			c.G1022A						.						30.0	29.0	29.0					19																	8436389		2200	4296	6496	SO:0001583	missense	51129	exon6			AGAACTGCGCCAA	AF202636	CCDS12200.1, CCDS42493.1	19p13.3	2013-10-07				ENSG00000167772		"""Fibrinogen C domain containing"""	16039	protein-coding gene	gene with protein product	"""fasting-induced adipose factor"", ""hepatic angiopoietin-related protein"", ""PPARG angiopoietin related protein"", ""hepatic fibrinogen/angiopoietin-related protein"", ""peroxisome proliferator-activated receptor (PPAR) gamma induced angiopoietin-related protein"", ""angiopoietin-related protein 4"""	605910				10698685, 10866690, 23960078	Standard	NM_139314		Approved	pp1158, PGAR, ARP4, HFARP, FIAF, NL2	uc002mjq.1	Q9BY76		ENST00000301455.2:c.1022G>A	19.37:g.8436389G>A	ENSP00000301455:p.Cys341Tyr	91	1		192	81	NM_139314	0	0	9	9	0	A8MY84|B4E089|D6W670|F5H0I2|Q53HQ6|Q53HU1|Q6UXN0|Q9HBV4|Q9NZU4|Q9Y5B3	Missense_Mutation	SNP	ENST00000301455.2	37	CCDS12200.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.388259	0.82902	.	.	ENSG00000167772	ENST00000301455;ENST00000393962;ENST00000541807	D;D;D	0.87491	-2.26;-2.26;-2.26	4.94	4.94	0.65067	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.95993	0.8695	H	0.97707	4.06	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97603	1.0124	10	0.72032	D	0.01	.	16.7673	0.85527	0.0:0.0:1.0:0.0	.	303;341	A8MY84;Q9BY76	.;ANGL4_HUMAN	Y	341;303;174	ENSP00000301455:C341Y;ENSP00000377534:C303Y;ENSP00000439833:C174Y	ENSP00000301455:C341Y	C	+	2	0	ANGPTL4	8342389	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	9.238000	0.95380	2.286000	0.76751	0.555000	0.69702	TGC	.		0.647	ANGPTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460322.1	NM_139314	
HNRNPM	4670	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	8531219	8531219	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:8531219G>A	ENST00000325495.4	+	7	772	c.731G>A	c.(730-732)cGt>cAt	p.R244H	HNRNPM_ENST00000348943.3_Missense_Mutation_p.R205H	NM_005968.4	NP_005959.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	244	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|RNA binding (GO:0003723)			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						GGAAAAAGTCGTGGAATAGGC	0.398																																					p.R244H		.											.	HNRNPM-68	0			c.G731A						.						162.0	153.0	156.0					19																	8531219		2203	4300	6503	SO:0001583	missense	4670	exon7			AAAGTCGTGGAAT	L03532	CCDS12203.1, CCDS12204.1	19p13.2	2013-06-12		2008-04-18	ENSG00000099783	ENSG00000099783		"""RNA binding motif (RRM) containing"""	5046	protein-coding gene	gene with protein product	"""CEA receptor"""	160994		NAGR1, HNRPM		8441656, 7558047	Standard	NM_005968		Approved	HTGR1, HNRNPM4, HNRPM4, CEAR	uc010dwe.3	P52272	OTTHUMG00000182383	ENST00000325495.4:c.731G>A	19.37:g.8531219G>A	ENSP00000325376:p.Arg244His	143	0		163	60	NM_005968	0	0	57	126	69	Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492	Missense_Mutation	SNP	ENST00000325495.4	37	CCDS12203.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.159709	0.78226	.	.	ENSG00000099783	ENST00000325495;ENST00000348943;ENST00000544159	T;T	0.42131	0.98;2.16	5.63	5.63	0.86233	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.56077	0.1961	M	0.82056	2.57	0.80722	D	1	B;B;B;P;B	0.51240	0.038;0.038;0.142;0.943;0.044	B;B;B;P;B	0.47251	0.042;0.031;0.078;0.542;0.057	T	0.64054	-0.6497	10	0.87932	D	0	.	18.2445	0.89981	0.0:0.0:1.0:0.0	.	84;244;205;205;144	Q7KYM9;P52272;P52272-2;B4DEG4;Q59ES8	.;HNRPM_HUMAN;.;.;.	H	244;205;144	ENSP00000325376:R244H;ENSP00000325732:R205H	ENSP00000325376:R244H	R	+	2	0	HNRNPM	8437219	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.653000	0.90120	0.650000	0.86243	CGT	.		0.398	HNRNPM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460894.1		
PRAM1	84106	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	8563981	8563981	+	Silent	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:8563981A>G	ENST00000423345.4	-	2	1231	c.711T>C	c.(709-711)ccT>ccC	p.P237P	PRAM1_ENST00000255612.3_Silent_p.P237P			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	285	Pro-rich.				integrin-mediated signaling pathway (GO:0007229)|regulation of neutrophil degranulation (GO:0043313)		lipid binding (GO:0008289)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						CGGACTTCTTAGGGAGGCCAC	0.632																																					p.P237P		.											.	.	0			c.T711C						.						38.0	41.0	40.0					19																	8563981		2063	4213	6276	SO:0001819	synonymous_variant	84106	exon2			CTTCTTAGGGAGG	BC028012	CCDS45954.1, CCDS45954.2	19p13.2	2009-01-21				ENSG00000133246			30091	protein-coding gene	gene with protein product		606466				11301322, 15572693	Standard	NM_032152		Approved	PML-RAR	uc002mkd.3	Q96QH2		ENST00000423345.4:c.711T>C	19.37:g.8563981A>G		35	0		59	23	NM_032152	0	0	0	0	0	Q8N6W7	Silent	SNP	ENST00000423345.4	37	CCDS45954.2																																																																																			.		0.632	PRAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397040.3	NM_032152	
ADAMTS10	81794	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	19	8645784	8645784	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:8645784C>T	ENST00000597188.1	-	26	3575	c.3305G>A	c.(3304-3306)gGc>gAc	p.G1102D	AC130469.2_ENST00000597256.1_RNA|ADAMTS10_ENST00000270328.4_Missense_Mutation_p.G1102D|ADAMTS10_ENST00000595838.1_Missense_Mutation_p.G589D	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	1102	PLAC. {ECO:0000255|PROSITE- ProRule:PRU00233}.					extracellular matrix (GO:0031012)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						CCCCTAGTGGCCATGGCAGGT	0.687											OREG0025220	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.G1102D		.											.	ADAMTS10-229	0			c.G3305A						.						22.0	19.0	20.0					19																	8645784		2203	4300	6503	SO:0001583	missense	81794	exon26			TAGTGGCCATGGC	AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13201	protein-coding gene	gene with protein product		608990	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"""				Standard	XM_005272499		Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.3305G>A	19.37:g.8645784C>T	ENSP00000471851:p.Gly1102Asp	20	0	650	33	8	NM_030957	0	0	0	0	0	M0QZE4	Missense_Mutation	SNP	ENST00000597188.1	37	CCDS12206.1	.	.	.	.	.	.	.	.	.	.	C	35	5.486626	0.96323	.	.	ENSG00000142303	ENST00000270328	T	0.59638	0.25	5.47	5.47	0.80525	PLAC (1);	0.000000	0.85682	U	0.000000	T	0.70107	0.3186	L	0.40543	1.245	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.71619	-0.4538	10	0.62326	D	0.03	.	18.3281	0.90260	0.0:1.0:0.0:0.0	.	1102;589	Q9H324;E9PCI6	ATS10_HUMAN;.	D	1102	ENSP00000270328:G1102D	ENSP00000270328:G1102D	G	-	2	0	ADAMTS10	8551784	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.396000	0.79891	2.566000	0.86566	0.549000	0.68633	GGC	.		0.687	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460085.3	NM_030957	
MUC16	94025	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	9019621	9019621	+	Missense_Mutation	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:9019621T>C	ENST00000397910.4	-	22	37728	c.37525A>G	c.(37525-37527)Acc>Gcc	p.T12509A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12511					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						GGCACAGAGGTCCGATGGGTG	0.507																																					p.T12509A		.											.	MUC16-566	0			c.A37525G						.						153.0	135.0	141.0					19																	9019621		1967	4152	6119	SO:0001583	missense	94025	exon22			CAGAGGTCCGATG	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.37525A>G	19.37:g.9019621T>C	ENSP00000381008:p.Thr12509Ala	273	0		328	139	NM_024690	0	0	0	0	0	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	3.373	-0.128094	0.06753	.	.	ENSG00000181143	ENST00000397910	T	0.33438	1.41	1.43	0.359	0.16088	.	.	.	.	.	T	0.20536	0.0494	L	0.38175	1.15	.	.	.	B	0.14438	0.01	B	0.10450	0.005	T	0.23940	-1.0174	8	0.87932	D	0	.	3.206	0.06666	0.0:0.2579:0.0:0.7421	.	12509	B5ME49	.	A	12509	ENSP00000381008:T12509A	ENSP00000381008:T12509A	T	-	1	0	MUC16	8880621	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.363000	0.07593	0.037000	0.15575	0.413000	0.27773	ACC	.		0.507	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	9084962	9084962	+	Missense_Mutation	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:9084962T>C	ENST00000397910.4	-	1	7056	c.6853A>G	c.(6853-6855)Act>Gct	p.T2285A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2285	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						ACTCTTGAAGTCAACTCATGA	0.458																																					p.T2285A		.											.	MUC16-566	0			c.A6853G						.						57.0	55.0	56.0					19																	9084962		1922	4141	6063	SO:0001583	missense	94025	exon1			TTGAAGTCAACTC	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.6853A>G	19.37:g.9084962T>C	ENSP00000381008:p.Thr2285Ala	84	0		82	32	NM_024690	0	0	0	0	0	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	0.126	-1.118881	0.01785	.	.	ENSG00000181143	ENST00000397910	T	0.02301	4.35	0.225	-0.451	0.12214	.	.	.	.	.	T	0.01287	0.0042	N	0.08118	0	.	.	.	B	0.09022	0.002	B	0.04013	0.001	T	0.45527	-0.9255	7	0.87932	D	0	.	.	.	.	.	2285	B5ME49	.	A	2285	ENSP00000381008:T2285A	ENSP00000381008:T2285A	T	-	1	0	MUC16	8945962	0.000000	0.05858	0.026000	0.17262	0.027000	0.11550	-1.473000	0.02339	-0.759000	0.04684	-0.756000	0.03474	ACT	.		0.458	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
OR1M1	125963	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	9204539	9204539	+	Missense_Mutation	SNP	A	A	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:9204539A>T	ENST00000429566.3	+	1	685	c.619A>T	c.(619-621)Ata>Tta	p.I207L		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	207						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(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						AGGGATGGTGATAGCCACGCC	0.567																																					p.I207L		.											.	OR1M1-71	0			c.A619T						.						127.0	102.0	110.0					19																	9204539		2203	4300	6503	SO:0001583	missense	125963	exon1			ATGGTGATAGCCA		CCDS32896.1	19p13.2	2013-09-20			ENSG00000170929	ENSG00000170929		"""GPCR / Class A : Olfactory receptors"""	8220	protein-coding gene	gene with protein product							Standard	NM_001004456		Approved	OR19-6	uc010xkj.2	Q8NGA1	OTTHUMG00000179930	ENST00000429566.3:c.619A>T	19.37:g.9204539A>T	ENSP00000401966:p.Ile207Leu	101	0		117	54	NM_001004456	0	0	0	0	0	B9EHA6|Q6IFJ3|Q96R91	Missense_Mutation	SNP	ENST00000429566.3	37	CCDS32896.1	.	.	.	.	.	.	.	.	.	.	a	5.297	0.240116	0.10023	.	.	ENSG00000170929	ENST00000305465;ENST00000429566	T	0.36157	1.27	3.8	0.497	0.16902	GPCR, rhodopsin-like superfamily (1);	0.300711	0.27792	N	0.017826	T	0.13030	0.0316	N	0.04636	-0.2	0.09310	N	1	B	0.14805	0.011	B	0.18561	0.022	T	0.19418	-1.0306	10	0.21014	T	0.42	.	4.2227	0.10565	0.4322:0.0:0.3992:0.1686	.	207	Q8NGA1	OR1M1_HUMAN	L	210;207	ENSP00000401966:I207L	ENSP00000303195:I210L	I	+	1	0	OR1M1	9065539	0.000000	0.05858	0.000000	0.03702	0.358000	0.29455	-0.100000	0.10990	-0.083000	0.12618	0.524000	0.50904	ATA	.		0.567	OR1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448993.1		
ZNF317	57693	broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	9271917	9271917	+	Silent	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:9271917C>T	ENST00000247956.6	+	7	1901	c.1596C>T	c.(1594-1596)tgC>tgT	p.C532C	ZNF317_ENST00000360385.3_Silent_p.C500C	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	532					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)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						CGTACGAATGCGATCACTGTG	0.567																																					p.C532C		.											.	ZNF317-90	0			c.C1596T						.						98.0	80.0	86.0					19																	9271917		2203	4300	6503	SO:0001819	synonymous_variant	57693	exon7			CGAATGCGATCAC	AF275255	CCDS12210.1, CCDS54213.1	19p13	2013-01-08				ENSG00000130803		"""Zinc fingers, C2H2-type"", ""-"""	13507	protein-coding gene	gene with protein product		613864				10997877, 11688974	Standard	NM_020933		Approved		uc002mku.3	Q96PQ6		ENST00000247956.6:c.1596C>T	19.37:g.9271917C>T		148	1		212	91	NM_020933	0	0	8	23	15	Q6DCA9|Q96PM0|Q96PM1|Q96PT2|Q9HCI4	Silent	SNP	ENST00000247956.6	37	CCDS12210.1																																																																																			.		0.567	ZNF317-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448995.1	NM_020933	
ZNF559	84527	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	9453476	9453476	+	Missense_Mutation	SNP	C	C	T	rs377766347		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:9453476C>T	ENST00000393883.2	+	6	1997	c.1349C>T	c.(1348-1350)tCg>tTg	p.S450L	ZNF559_ENST00000603380.1_Missense_Mutation_p.S450L|ZNF559_ENST00000317221.7_3'UTR|ZNF177_ENST00000602856.1_Intron|ZNF177_ENST00000541595.2_Intron|ZNF559_ENST00000586255.1_Intron|ZNF559_ENST00000538743.1_Missense_Mutation_p.S370L|ZNF177_ENST00000602738.1_Intron|ZNF177_ENST00000446085.4_Intron|ZNF559_ENST00000587557.1_Missense_Mutation_p.S514L|CTC-325H20.2_ENST00000592371.1_lincRNA|ZNF177_ENST00000605471.1_Intron	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN	zinc finger protein 559	450					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)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						AGATACTCCTCGCACCTTAGT	0.428																																					p.S514L		.											.	ZNF559-91	0			c.C1541T						.	C	LEU/SER,LEU/SER,LEU/SER,,,,,,,	0,4406		0,0,2203	67.0	58.0	61.0		1541,1223,1349,,,,,,,	0.1	0.0	19		61	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,intron,utr-3,utr-3,utr-3,utr-3,utr-3,intron	ZNF559,ZNF559-ZNF177	NM_001202406.1,NM_001202407.1,NM_032497.2,NM_001172650.2,NM_001202408.1,NM_001202409.1,NM_001202410.1,NM_001202411.1,NM_001202412.1,NM_001202425.1	145,145,145,,,,,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,,,,,,,	514/603,408/497,450/539,,,,,,,	9453476	1,13005	2203	4300	6503	SO:0001583	missense	84527	exon6			ACTCCTCGCACCT	AL389937	CCDS12211.1, CCDS59349.1, CCDS62531.1, CCDS62532.1	19p13.2	2013-09-20			ENSG00000188321	ENSG00000188321		"""Zinc fingers, C2H2-type"", ""-"""	28197	protein-coding gene	gene with protein product						12477932	Standard	NM_001202406		Approved	MGC13105	uc002mle.4	Q9BR84	OTTHUMG00000179942	ENST00000393883.2:c.1349C>T	19.37:g.9453476C>T	ENSP00000377461:p.Ser450Leu	133	0		201	83	NM_001202406	0	0	3	6	3	K7EMG6	Missense_Mutation	SNP	ENST00000393883.2	37	CCDS12211.1	.	.	.	.	.	.	.	.	.	.	C	13.39	2.222231	0.39300	0.0	1.16E-4	ENSG00000188321	ENST00000317221;ENST00000538743;ENST00000393883	T;T	0.07444	3.19;3.19	2.22	0.0609	0.14338	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13243	0.0321	M	0.89601	3.045	0.09310	N	1	P;P;B	0.45986	0.572;0.87;0.436	B;B;B	0.40677	0.051;0.337;0.008	T	0.20174	-1.0283	9	0.72032	D	0.01	.	2.2517	0.04045	0.2452:0.4563:0.0:0.2985	.	450;450;370	B3KPL8;Q9BR84;B4DP29	.;ZN559_HUMAN;.	L	450;370;450	ENSP00000442832:S370L;ENSP00000377461:S450L	ENSP00000325393:S450L	S	+	2	0	ZNF559	9314476	0.000000	0.05858	0.000000	0.03702	0.738000	0.42128	-0.252000	0.08806	0.078000	0.16900	0.313000	0.20887	TCG	.		0.428	ZNF559-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000449021.1	NM_032497	
ZNF426	79088	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	9639084	9639084	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:9639084G>A	ENST00000535489.1	-	6	1973	c.1637C>T	c.(1636-1638)tCa>tTa	p.S546L	ZNF426_ENST00000253115.2_Missense_Mutation_p.S546L|ZNF426_ENST00000593003.1_Missense_Mutation_p.S508L			Q9BUY5	ZN426_HUMAN	zinc finger protein 426	546					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						TCTTCGAAGTGAACGGGGATG	0.383																																					p.S546L		.											.	ZNF426-91	0			c.C1637T						.						125.0	107.0	113.0					19																	9639084		2203	4300	6503	SO:0001583	missense	79088	exon8			CGAAGTGAACGGG	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.1637C>T	19.37:g.9639084G>A	ENSP00000439017:p.Ser546Leu	35	0		25	12	NM_024106	0	0	1	4	3	B3KTL2	Missense_Mutation	SNP	ENST00000535489.1	37	CCDS12215.1	.	.	.	.	.	.	.	.	.	.	G	2.167	-0.390692	0.04932	.	.	ENSG00000130818	ENST00000545189;ENST00000253115;ENST00000535489	T;T	0.15834	2.39;2.39	0.958	-1.92	0.07618	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17577	0.0422	L	0.54323	1.7	0.09310	N	1	B;P	0.48350	0.207;0.909	B;P	0.48704	0.01;0.587	T	0.22417	-1.0217	9	0.15066	T	0.55	.	6.3336	0.21285	0.0:0.0:0.3237:0.6763	.	533;546	Q59EH4;Q9BUY5	.;ZN426_HUMAN	L	533;546;546	ENSP00000253115:S546L;ENSP00000439017:S546L	ENSP00000253115:S546L	S	-	2	0	ZNF426	9500084	0.009000	0.17119	0.000000	0.03702	0.259000	0.26198	1.032000	0.30178	-0.668000	0.05296	0.460000	0.39030	TCA	.		0.383	ZNF426-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449905.1	NM_024106	
RAVER1	125950	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	10439472	10439472	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:10439472C>T	ENST00000293677.6	-	3	734	c.653G>A	c.(652-654)cGc>cAc	p.R218H		NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	ribonucleoprotein, PTB-binding 1	201						cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R201H(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			GTAGAGGGTGCGTGGTCCCAG	0.637																																					p.R218H		.											.	RAVER1-91	1	Substitution - Missense(1)	large_intestine(1)	c.G653A						.						28.0	35.0	32.0					19																	10439472		2173	4254	6427	SO:0001583	missense	125950	exon3			AGGGTGCGTGGTC		CCDS45960.1	19p13.2	2013-02-12				ENSG00000161847		"""RNA binding motif (RRM) containing"""	30296	protein-coding gene	gene with protein product		609950				11853319, 11724819	Standard	NM_133452		Approved	KIAA1978	uc002moa.3	Q8IY67		ENST00000293677.6:c.653G>A	19.37:g.10439472C>T	ENSP00000293677:p.Arg218His	242	1		382	151	NM_133452	0	0	37	69	32	A6NMU4|Q8IY60|Q8TF24	Missense_Mutation	SNP	ENST00000293677.6	37	CCDS45960.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.441782	0.83993	.	.	ENSG00000161847	ENST00000293677;ENST00000331131	T	0.20069	2.1	5.07	3.96	0.45880	.	0.000000	0.85682	D	0.000000	T	0.48714	0.1515	M	0.86805	2.84	0.50039	D	0.999845	D	0.89917	1.0	D	0.77557	0.99	T	0.53837	-0.8382	10	0.52906	T	0.07	-32.2627	11.9902	0.53171	0.1737:0.8263:0.0:0.0	.	218	E9PAU2	.	H	218;201	ENSP00000293677:R218H	ENSP00000293677:R218H	R	-	2	0	RAVER1	10300472	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	3.019000	0.49635	2.357000	0.79964	0.650000	0.86243	CGC	.		0.637	RAVER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451227.1	NM_133452	
PDE4A	5141	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	10578111	10578111	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:10578111G>A	ENST00000352831.6	+	15	2585	c.2475G>A	c.(2473-2475)agG>agA	p.R825R	PDE4A_ENST00000344979.3_Silent_p.R586R|PDE4A_ENST00000440014.2_Silent_p.R764R|PDE4A_ENST00000293683.5_Silent_p.R799R|PDE4A_ENST00000592685.1_Silent_p.R803R|PDE4A_ENST00000380702.2_Silent_p.R803R	NM_001111307.1	NP_001104777.1	P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	825					cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Caffeine(DB00201)|Dipyridamole(DB00975)|Drotaverine(DB06751)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theophylline(DB00277)|Tofisopam(DB08811)	CTGCTTGGAGGACCCTGTCTG	0.657																																					p.R825R		.											.	PDE4A-523	0			c.G2475A						.						71.0	70.0	71.0					19																	10578111		2203	4300	6503	SO:0001819	synonymous_variant	5141	exon15			TTGGAGGACCCTG		CCDS12238.1, CCDS45961.1, CCDS45962.1, CCDS45963.1, CCDS58649.1	19p13.2	2010-06-24	2010-06-24			ENSG00000065989	3.1.4.17	"""Phosphodiesterases"""	8780	protein-coding gene	gene with protein product	"""phosphodiesterase E2 dunce homolog (Drosophila)"""	600126	"""phosphodiesterase 4A, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E2)"""	DPDE2		8009369	Standard	NM_006202		Approved		uc002moj.2	P27815		ENST00000352831.6:c.2475G>A	19.37:g.10578111G>A		97	0		106	37	NM_001111307	0	0	3	3	0	O75522|O76092|Q16255|Q16691|Q5DM53|Q6PMT2|Q8IVA7|Q8WUQ3|Q9H3H2	Silent	SNP	ENST00000352831.6	37	CCDS45961.1																																																																																			.		0.657	PDE4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451244.1		
ATG4D	84971	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	10657607	10657607	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:10657607C>T	ENST00000309469.4	+	4	759	c.586C>T	c.(586-588)Ccc>Tcc	p.P196S	ATG4D_ENST00000540862.1_Intron	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase	196					apoptotic process (GO:0006915)|autophagy (GO:0006914)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			CCGCTGGATGCCCCCACGCTG	0.716																																					p.P196S		.											.	ATG4D-90	0			c.C586T						.						16.0	17.0	17.0					19																	10657607		2194	4293	6487	SO:0001583	missense	84971	exon4			TGGATGCCCCCAC	AJ312332	CCDS12241.1	19p13.2	2014-02-12	2012-06-06	2005-09-11	ENSG00000130734	ENSG00000130734			20789	protein-coding gene	gene with protein product		611340	"""AUT-like 4, cysteine endopeptidase (S. cerevisiae)"", ""APG4 autophagy 4 homolog D (S. cerevisiae)"", ""ATG4 autophagy related 4 homolog D (S. cerevisiae)"""	AUTL4, APG4D		12446702	Standard	NM_032885		Approved	APG4-D	uc002mov.3	Q86TL0	OTTHUMG00000180582	ENST00000309469.4:c.586C>T	19.37:g.10657607C>T	ENSP00000311318:p.Pro196Ser	33	0		87	39	NM_032885	0	0	24	41	17	Q969K0	Missense_Mutation	SNP	ENST00000309469.4	37	CCDS12241.1	.	.	.	.	.	.	.	.	.	.	C	16.97	3.269987	0.59540	.	.	ENSG00000130734	ENST00000309469	.	.	.	5.12	4.04	0.47022	.	0.294861	0.31061	N	0.008339	T	0.61502	0.2352	M	0.63843	1.955	0.46849	D	0.999221	B;B;B	0.29232	0.064;0.077;0.238	B;B;B	0.34590	0.122;0.063;0.186	T	0.63120	-0.6708	9	0.40728	T	0.16	-11.1608	13.8703	0.63615	0.1532:0.8467:0.0:0.0	.	133;219;196	B4DGM8;B7ZAY9;Q86TL0	.;.;ATG4D_HUMAN	S	196	.	ENSP00000311318:P196S	P	+	1	0	ATG4D	10518607	0.000000	0.05858	0.593000	0.28771	0.765000	0.43378	0.514000	0.22786	2.376000	0.81061	0.561000	0.74099	CCC	.		0.716	ATG4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452022.1	NM_032885	
SMARCA4	6597	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	11097117	11097117	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:11097117C>T	ENST00000429416.3	+	5	889	c.608C>T	c.(607-609)gCg>gTg	p.A203V	SMARCA4_ENST00000450717.3_Missense_Mutation_p.A203V|SMARCA4_ENST00000413806.3_Missense_Mutation_p.A203V|SMARCA4_ENST00000589677.1_Missense_Mutation_p.A203V|SMARCA4_ENST00000344626.4_Missense_Mutation_p.A203V|SMARCA4_ENST00000444061.3_Missense_Mutation_p.A203V|SMARCA4_ENST00000358026.2_Missense_Mutation_p.A203V|SMARCA4_ENST00000590574.1_Missense_Mutation_p.A203V|SMARCA4_ENST00000541122.2_Missense_Mutation_p.A203V	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	203	Necessary for interaction with SS18L1/CREST. {ECO:0000250}.|QLQ. {ECO:0000255|PROSITE- ProRule:PRU01001}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CTGCAGATGGCGGTGCAGGGC	0.662			"""F, N, Mis"""		NSCLC																																p.A203V		.		Rec	yes		19	19p13.2	6597	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""		E	.	SMARCA4-1523	1	Unknown(1)	lung(1)	c.C608T						.						14.0	10.0	12.0					19																	11097117		2181	4250	6431	SO:0001583	missense	6597	exon4			AGATGGCGGTGCA	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.608C>T	19.37:g.11097117C>T	ENSP00000395654:p.Ala203Val	65	0		129	49	NM_003072	0	0	37	57	20	B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.937968	0.92526	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.88975	-2.45;-2.44;-2.45;-2.43;-2.43;-2.43;-2.43	4.32	4.32	0.51571	Glutamine-Leucine-Glutamine, QLQ (2);	0.000000	0.85682	D	0.000000	D	0.92792	0.7708	L	0.58354	1.805	0.58432	D	0.999999	D;D;D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999;0.999;0.999	D;D;D;D;D;D;D	0.74674	0.984;0.984;0.984;0.984;0.984;0.984;0.984	D	0.93602	0.6931	10	0.72032	D	0.01	-28.9405	15.7588	0.78058	0.0:1.0:0.0:0.0	.	203;203;203;203;203;203;203	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;A7E2E1;P51532	.;.;.;.;.;.;SMCA4_HUMAN	V	203	ENSP00000395654:A203V;ENSP00000350720:A203V;ENSP00000343896:A203V;ENSP00000445036:A203V;ENSP00000392837:A203V;ENSP00000397783:A203V;ENSP00000414727:A203V	ENSP00000343896:A203V	A	+	2	0	SMARCA4	10958117	1.000000	0.71417	0.955000	0.39395	0.971000	0.66376	7.510000	0.81708	2.244000	0.73946	0.462000	0.41574	GCG	.		0.662	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072	
SMARCA4	6597	hgsc.bcm.edu	37	19	11098456	11098456	+	Missense_Mutation	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:11098456T>C	ENST00000429416.3	+	7	1255	c.974T>C	c.(973-975)gTg>gCg	p.V325A	SMARCA4_ENST00000450717.3_Missense_Mutation_p.V325A|SMARCA4_ENST00000413806.3_Missense_Mutation_p.V325A|SMARCA4_ENST00000589677.1_Missense_Mutation_p.V325A|SMARCA4_ENST00000344626.4_Missense_Mutation_p.V325A|SMARCA4_ENST00000444061.3_Missense_Mutation_p.V325A|SMARCA4_ENST00000358026.2_Missense_Mutation_p.V325A|SMARCA4_ENST00000590574.1_Missense_Mutation_p.V325A|SMARCA4_ENST00000541122.2_Missense_Mutation_p.V325A	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	325					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GCCTCGCCCGTGATGCCACCG	0.746			"""F, N, Mis"""		NSCLC																																p.V325A		.		Rec	yes		19	19p13.2	6597	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""		E	.	SMARCA4-1523	1	Unknown(1)	lung(1)	c.T974C						.						7.0	9.0	8.0					19																	11098456		2115	4066	6181	SO:0001583	missense	6597	exon6			CGCCCGTGATGCC	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.974T>C	19.37:g.11098456T>C	ENSP00000395654:p.Val325Ala	3	0		24	7	NM_003072	0	0	15	25	10	B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	T	7.291	0.611044	0.14066	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.86230	-2.09;-2.09;-2.09;-2.08;-2.08;-2.08;-2.08	4.36	4.36	0.52297	.	0.000000	0.64402	D	0.000001	T	0.79203	0.4406	L	0.44542	1.39	0.40882	D	0.984006	B;B;B;B;B;B;B	0.21520	0.005;0.005;0.005;0.057;0.024;0.005;0.005	B;B;B;B;B;B;B	0.12156	0.002;0.002;0.002;0.007;0.003;0.002;0.002	T	0.71794	-0.4485	10	0.05721	T	0.95	-33.9807	12.6908	0.56974	0.0:0.0:0.0:1.0	.	325;325;325;325;325;325;325	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;A7E2E1;P51532	.;.;.;.;.;.;SMCA4_HUMAN	A	325	ENSP00000395654:V325A;ENSP00000350720:V325A;ENSP00000343896:V325A;ENSP00000445036:V325A;ENSP00000392837:V325A;ENSP00000397783:V325A;ENSP00000414727:V325A	ENSP00000343896:V325A	V	+	2	0	SMARCA4	10959456	1.000000	0.71417	0.990000	0.47175	0.235000	0.25334	2.531000	0.45650	1.838000	0.53458	0.459000	0.35465	GTG	.		0.746	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072	
KANK2	25959	hgsc.bcm.edu;broad.mit.edu	37	19	11304002	11304002	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:11304002G>A	ENST00000586659.1	-	4	1068	c.754C>T	c.(754-756)Ctc>Ttc	p.L252F	KANK2_ENST00000432929.2_Missense_Mutation_p.L252F|KANK2_ENST00000589894.1_Missense_Mutation_p.L252F|KANK2_ENST00000355150.5_Missense_Mutation_p.L252F|KANK2_ENST00000589359.1_Missense_Mutation_p.L252F			Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	252					apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)				endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GGATCGGGGAGGTCCAGGCAG	0.657																																					p.L252F		.											.	KANK2-68	0			c.C754T						.						24.0	27.0	26.0					19																	11304002		2200	4296	6496	SO:0001583	missense	25959	exon2			CGGGGAGGTCCAG	AK000011	CCDS12255.1, CCDS54219.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000197256		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	29300	protein-coding gene	gene with protein product		614610	"""matrix-remodelling associated 3"", ""ankyrin repeat domain 25"""	MXRA3, ANKRD25		10819331, 17996375, 19554261	Standard	NM_015493		Approved	KIAA1518	uc002mqm.3	Q63ZY3		ENST00000586659.1:c.754C>T	19.37:g.11304002G>A	ENSP00000465650:p.Leu252Phe	42	0		64	4	NM_015493	0	0	23	25	2	B0I1P4|Q3KQZ3|Q6GUF5|Q9H8S4|Q9NUP0|Q9P210	Missense_Mutation	SNP	ENST00000586659.1	37	CCDS12255.1	.	.	.	.	.	.	.	.	.	.	G	16.45	3.126424	0.56721	.	.	ENSG00000197256	ENST00000432929;ENST00000355150	T;T	0.44482	0.92;0.94	4.11	4.11	0.48088	.	0.182257	0.36268	N	0.002684	T	0.47655	0.1457	L	0.40543	1.245	0.36023	D	0.838894	D;P;D	0.63046	0.964;0.456;0.992	P;B;P	0.59948	0.745;0.121;0.866	T	0.56733	-0.7930	10	0.48119	T	0.1	-25.457	9.4848	0.38922	0.0:0.0:0.654:0.346	.	252;252;252	Q63ZY3-3;Q63ZY3;Q63ZY3-2	.;KANK2_HUMAN;.	F	252	ENSP00000395650:L252F;ENSP00000347276:L252F	ENSP00000347276:L252F	L	-	1	0	KANK2	11165002	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	2.662000	0.46766	1.829000	0.53265	0.313000	0.20887	CTC	.		0.657	KANK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453066.2	NM_015493	
DOCK6	57572	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	11326127	11326127	+	Missense_Mutation	SNP	G	G	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:11326127G>T	ENST00000294618.7	-	32	4053	c.4042C>A	c.(4042-4044)Ccg>Acg	p.P1348T	CTC-510F12.2_ENST00000588634.1_RNA|DOCK6_ENST00000319867.7_Missense_Mutation_p.P687T	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1348					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						ACATTCTCCGGATTCCCAAAC	0.562																																					p.P1348T		.											.	DOCK6-93	0			c.C4042A						.						48.0	48.0	48.0					19																	11326127		2008	4171	6179	SO:0001583	missense	57572	exon32			TCTCCGGATTCCC		CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.4042C>A	19.37:g.11326127G>T	ENSP00000294618:p.Pro1348Thr	137	0		152	66	NM_020812	0	0	8	11	3	A6H8X5|Q7Z7P4|Q9P2F2	Missense_Mutation	SNP	ENST00000294618.7	37	CCDS45975.1	.	.	.	.	.	.	.	.	.	.	G	8.572	0.880206	0.17467	.	.	ENSG00000130158	ENST00000294618;ENST00000319867	T;T	0.38401	1.14;1.14	5.68	5.68	0.88126	.	0.143817	0.47455	D	0.000229	T	0.17492	0.0420	N	0.02539	-0.55	0.47862	D	0.999535	B;B	0.02656	0.0;0.0	B;B	0.10450	0.005;0.002	T	0.16305	-1.0407	10	0.10111	T	0.7	-12.1992	18.5412	0.91029	0.0:0.0:1.0:0.0	.	687;1348	C9IZV6;Q96HP0	.;DOCK6_HUMAN	T	1348;687	ENSP00000294618:P1348T;ENSP00000321556:P687T	ENSP00000294618:P1348T	P	-	1	0	DOCK6	11187127	1.000000	0.71417	0.995000	0.50966	0.197000	0.23852	9.476000	0.97823	2.683000	0.91414	0.591000	0.81541	CCG	.		0.562	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453155.1	NM_020812	
EPOR	2057	ucsc.edu;bcgsc.ca	37	19	11492756	11492756	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:11492756G>A	ENST00000222139.6	-	3	381	c.277C>T	c.(277-279)Ctg>Ttg	p.L93L	EPOR_ENST00000592375.2_Silent_p.L93L	NM_000121.3	NP_000112.1	P19235	EPOR_HUMAN	erythropoietin receptor	93					brain development (GO:0007420)|decidualization (GO:0046697)|erythropoietin-mediated signaling pathway (GO:0038162)|heart development (GO:0007507)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	erythropoietin receptor activity (GO:0004900)|identical protein binding (GO:0042802)			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5					Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)|Epoetin Zeta(DB08923)|Peginesatide(DB08894)	GCCTGGTGCAGGCGACACAGC	0.672																																					p.L93L		.											.	EPOR-523	0			c.C277T						.						33.0	35.0	35.0					19																	11492756		2203	4299	6502	SO:0001819	synonymous_variant	2057	exon3			GGTGCAGGCGACA	M34986	CCDS12260.1	19p13.3-p13.2	2013-02-11				ENSG00000187266		"""Fibronectin type III domain containing"""	3416	protein-coding gene	gene with protein product		133171					Standard	NM_000121		Approved		uc002mrj.2	P19235		ENST00000222139.6:c.277C>T	19.37:g.11492756G>A		175	3		209	97	NM_000121	0	0	11	16	5	B2RCG4|Q15443|Q2M205	Silent	SNP	ENST00000222139.6	37	CCDS12260.1																																																																																			.		0.672	EPOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458791.1		
ZNF833P	401898	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	11797189	11797189	+	lincRNA	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:11797189C>T	ENST00000344893.3	+	0	3188					NR_028594.1		Q6ZTB9	ZN833_HUMAN	zinc finger protein 833, pseudogene								metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5						atacctaatgcattgtaaatg	0.318																																					.		.											.	ZNF833P-91	0			.						.																																					401898	.			CTAATGCATTGTA	BC137336		19p13.2	2010-08-03	2010-08-03	2010-08-03	ENSG00000197332	ENSG00000197332			33819	pseudogene	pseudogene			"""zinc finger protein 833"""	ZNF833			Standard	NR_028594		Approved		uc021upi.1	Q6ZTB9	OTTHUMG00000156530		19.37:g.11797189C>T		169	1		156	64	.	0	0	0	0	0	B2RPA0	RNA	SNP	ENST00000344893.3	37																																																																																				.		0.318	ZNF833P-001	KNOWN	basic|readthrough_transcript	lincRNA	lincRNA	OTTHUMT00000458891.1	NM_001013691	
ZNF823	55552	broad.mit.edu	37	19	11832936	11832936	+	Silent	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:11832936A>G	ENST00000341191.6	-	4	1566	c.1413T>C	c.(1411-1413)taT>taC	p.Y471Y	ZNF823_ENST00000545749.1_Silent_p.Y289Y	NM_001080493.2	NP_001073962.1	P16415	ZN823_HUMAN	zinc finger protein 823	471					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(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)	26						CCTTACACTCATATGGCTTCT	0.388										HNSCC(68;0.2)																											p.Y471Y		.											.	ZNF823-24	0			c.T1413C						.						86.0	98.0	94.0					19																	11832936		2203	4300	6503	SO:0001819	synonymous_variant	55552	exon4			ACACTCATATGGC	X51760	CCDS45981.1	19p13.2	2013-01-08			ENSG00000197933	ENSG00000197933		"""Zinc fingers, C2H2-type"", ""-"""	30936	protein-coding gene	gene with protein product	"""ZFP 36 for a zinc finger protein"""						Standard	XM_006722789		Approved	HSZFP36	uc002msm.2	P16415	OTTHUMG00000156528	ENST00000341191.6:c.1413T>C	19.37:g.11832936A>G		89	0		108	4	NM_001080493	0	0	10	10	0	A0PJL4|B7Z8D4|Q6P4A9	Silent	SNP	ENST00000341191.6	37	CCDS45981.1																																																																																			.		0.388	ZNF823-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344516.2	NM_001080493	
ZNF441	126068	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	19	11892031	11892031	+	Silent	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:11892031A>G	ENST00000357901.4	+	4	1494	c.1392A>G	c.(1390-1392)gtA>gtG	p.V464V	ZNF441_ENST00000454339.2_Silent_p.V397V	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	464					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						ACATTCGAGTACATGAAAAGA	0.398																																					p.V464V		.											.	ZNF441-69	0			c.A1392G						.						57.0	59.0	59.0					19																	11892031		2203	4300	6503	SO:0001819	synonymous_variant	126068	exon4			TCGAGTACATGAA	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.1392A>G	19.37:g.11892031A>G		44	0		47	17	NM_152355	0	0	1	1	0		Silent	SNP	ENST00000357901.4	37	CCDS12266.2																																																																																			.		0.398	ZNF441-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335273.3	NM_152355	
ZNF491	126069	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	11917409	11917409	+	Missense_Mutation	SNP	C	C	T	rs140071849	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:11917409C>T	ENST00000323169.5	+	3	972	c.641C>T	c.(640-642)cCg>cTg	p.P214L	ZNF491_ENST00000492230.1_Intron	NM_152356.3	NP_689569.2	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	214					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)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						GGAGAGAAGCCGTACAAATGT	0.428																																					p.P214L		.											.	ZNF491-92	0			c.C641T						.	C	LEU/PRO	2,4404	4.2+/-10.8	0,2,2201	55.0	58.0	57.0		641	-0.3	0.0	19	dbSNP_134	57	0,8600		0,0,4300	no	missense	ZNF491	NM_152356.3	98	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	214/438	11917409	2,13004	2203	4300	6503	SO:0001583	missense	126069	exon3			AGAAGCCGTACAA	AK092110	CCDS12267.1	19p13.2	2013-01-08			ENSG00000177599	ENSG00000177599		"""Zinc fingers, C2H2-type"""	23706	protein-coding gene	gene with protein product							Standard	XM_005259730		Approved	FLJ34791	uc002mso.1	Q8N8L2	OTTHUMG00000156529	ENST00000323169.5:c.641C>T	19.37:g.11917409C>T	ENSP00000313443:p.Pro214Leu	46	0		44	13	NM_152356	0	0	1	1	0	Q3MJ35|Q8NAT8	Missense_Mutation	SNP	ENST00000323169.5	37	CCDS12267.1	.	.	.	.	.	.	.	.	.	.	c	12.55	1.972675	0.34848	4.54E-4	0.0	ENSG00000177599	ENST00000323169	T	0.27557	1.66	0.924	-0.311	0.12761	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.25306	0.0615	M	0.71036	2.16	0.09310	N	0.999998	P	0.47962	0.903	B	0.37451	0.25	T	0.22871	-1.0204	9	0.72032	D	0.01	.	3.0928	0.06299	0.2645:0.5497:0.0:0.1858	.	214	Q8N8L2	ZN491_HUMAN	L	214	ENSP00000313443:P214L	ENSP00000313443:P214L	P	+	2	0	ZNF491	11778409	0.000000	0.05858	0.009000	0.14445	0.191000	0.23601	0.631000	0.24568	-0.025000	0.13918	0.498000	0.49722	CCG	C|1.000;T|0.000		0.428	ZNF491-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344518.1	NM_152356	
ZNF700	90592	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	12060900	12060900	+	Silent	SNP	T	T	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:12060900T>A	ENST00000254321.5	+	4	2204	c.2061T>A	c.(2059-2061)tcT>tcA	p.S687S	ZNF700_ENST00000482090.1_Silent_p.S669S|ZNF763_ENST00000590798.1_Intron|ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000591944.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	687					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						GATTCACATCTGCCAAGATTC	0.358																																					p.S690S		.											.	ZNF700-90	0			c.T2070A						.						92.0	83.0	86.0					19																	12060900		2203	4300	6503	SO:0001819	synonymous_variant	90592	exon4			CACATCTGCCAAG	AL136732	CCDS32915.1, CCDS74289.1	19p13.2	2013-01-08			ENSG00000196757	ENSG00000196757		"""Zinc fingers, C2H2-type"", ""-"""	25292	protein-coding gene	gene with protein product							Standard	NM_144566		Approved	DKFZp434I1610	uc031rjk.1	Q9H0M5	OTTHUMG00000156421	ENST00000254321.5:c.2061T>A	19.37:g.12060900T>A		118	0		168	85	NM_001271848	0	0	4	10	6	B9EGU4	Silent	SNP	ENST00000254321.5	37	CCDS32915.1																																																																																			.		0.358	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344126.2	NM_144566	
ZNF878	729747	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	12155177	12155177	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:12155177C>T	ENST00000547628.1	-	4	1176	c.1039G>A	c.(1039-1041)Gcc>Acc	p.A347T	CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|ZNF878_ENST00000602107.1_Missense_Mutation_p.A394T|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878	347					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						AAACTGAAGGCTTTCACACAT	0.378																																					p.A347T		.											.	.	0			c.G1039A						.						52.0	58.0	56.0					19																	12155177		2177	4287	6464	SO:0001583	missense	729747	exon4			TGAAGGCTTTCAC		CCDS45984.1, CCDS45984.2	19p13.2	2013-01-08				ENSG00000257446		"""Zinc fingers, C2H2-type"", ""-"""	37246	protein-coding gene	gene with protein product							Standard	NM_001080404		Approved		uc021upl.1	C9JN71		ENST00000547628.1:c.1039G>A	19.37:g.12155177C>T	ENSP00000447931:p.Ala347Thr	24	0		36	22	NM_001080404	0	0	0	0	0		Missense_Mutation	SNP	ENST00000547628.1	37	CCDS45984.2	.	.	.	.	.	.	.	.	.	.	C	12.80	2.048003	0.36085	.	.	ENSG00000257446;ENSG00000232371	ENST00000547628;ENST00000440730	T	0.16897	2.31	1.29	1.29	0.21616	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10594	0.0259	N	0.02973	-0.45	0.09310	N	1	D	0.56287	0.975	P	0.56563	0.801	T	0.16188	-1.0411	9	0.26408	T	0.33	.	3.5861	0.07972	0.0:0.5613:0.0:0.4387	.	347	C9JN71	ZN878_HUMAN	T	347;394	ENSP00000447931:A347T	ENSP00000447931:A347T	A	-	1	0	AC022415.4;ZNF878	12016177	0.000000	0.05858	0.031000	0.17742	0.318000	0.28184	-0.171000	0.09883	0.669000	0.31146	0.305000	0.20034	GCC	.		0.378	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403723.1	NM_001080404	
ZNF44	51710	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	12386792	12386792	+	Missense_Mutation	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:12386792T>C	ENST00000356109.5	-	3	371	c.253A>G	c.(253-255)Att>Gtt	p.I85V	ZNF44_ENST00000355684.5_Missense_Mutation_p.I37V	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN	zinc finger protein 44	85	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)			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		AGGTTCCTAATGGTTTCTCGC	0.433																																					p.I85V		.											.	ZNF44-23	0			c.A253G						.						193.0	205.0	201.0					19																	12386792		2203	4300	6503	SO:0001583	missense	51710	exon3			TCCTAATGGTTTC	X52338	CCDS45988.1, CCDS54223.1	19p13.2	2013-01-08	2006-05-11		ENSG00000197857	ENSG00000197857		"""Zinc fingers, C2H2-type"", ""-"""	13110	protein-coding gene	gene with protein product		194542	"""zinc finger protein 58"", ""zinc finger protein 44 (KOX 7)"", ""zinc finger protein 55"""	ZNF58, ZNF55		1946370, 1505991	Standard	NM_016264		Approved	KOX7, ZNF504	uc010xmj.2	P15621	OTTHUMG00000156424	ENST00000356109.5:c.253A>G	19.37:g.12386792T>C	ENSP00000348419:p.Ile85Val	133	0		159	66	NM_001164276	0	0	0	0	0	B4DML9|B9EGJ5|B9ZVM2|P17018|Q9ULZ7	Missense_Mutation	SNP	ENST00000356109.5	37	CCDS54223.1	.	.	.	.	.	.	.	.	.	.	T	8.063	0.768612	0.15983	.	.	ENSG00000197857	ENST00000393337;ENST00000356109;ENST00000457673;ENST00000355684	T;T;T	0.01685	4.69;4.69;4.69	1.31	0.148	0.14843	Krueppel-associated box (4);	.	.	.	.	T	0.02342	0.0072	N	0.10837	0.055	.	.	.	P;D	0.53151	0.921;0.958	P;D	0.69307	0.751;0.963	T	0.50448	-0.8827	8	0.33141	T	0.24	.	3.2043	0.06659	0.586:0.0:0.0:0.414	.	85;37	P15621;F8W7T7	ZNF44_HUMAN;.	V	85;85;37;37	ENSP00000377008:I85V;ENSP00000348419:I85V;ENSP00000347910:I37V	ENSP00000347910:I37V	I	-	1	0	ZNF44	12247792	0.015000	0.18098	0.758000	0.31321	0.605000	0.37080	0.643000	0.24750	-0.006000	0.14370	0.247000	0.18012	ATT	.		0.433	ZNF44-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344132.1	NM_016264	
ZNF563	147837	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	12430322	12430322	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:12430322C>T	ENST00000293725.5	-	4	722	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K	ZNF563_ENST00000595977.1_Missense_Mutation_p.E173K	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	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)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TTTCCACATTCCTTACACTCA	0.438																																					p.E173K	GBM(39;623 795 5132 29510 31476)	.											.	ZNF563-90	0			c.G517A						.						232.0	210.0	217.0					19																	12430322		2203	4300	6503	SO:0001583	missense	147837	exon4			CACATTCCTTACA	BC022523	CCDS12270.1	19p13.2	2013-09-20			ENSG00000188868	ENSG00000188868		"""Zinc fingers, C2H2-type"", ""-"""	30498	protein-coding gene	gene with protein product							Standard	NM_145276		Approved	FLJ34797	uc002mtp.3	Q8TA94	OTTHUMG00000156413	ENST00000293725.5:c.517G>A	19.37:g.12430322C>T	ENSP00000293725:p.Glu173Lys	171	0		210	74	NM_145276	0	0	0	2	2	B2R9E7|Q8NAT7	Missense_Mutation	SNP	ENST00000293725.5	37	CCDS12270.1	.	.	.	.	.	.	.	.	.	.	C	16.66	3.183753	0.57800	.	.	ENSG00000188868	ENST00000293725;ENST00000318168	T	0.16597	2.33	0.814	-0.807	0.10872	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26629	0.0651	L	0.48935	1.535	0.09310	N	1	P;D	0.69078	0.532;0.997	B;D	0.83275	0.263;0.996	T	0.13098	-1.0522	9	0.49607	T	0.09	.	3.2624	0.06853	0.0:0.5126:0.2798:0.2076	.	173;173	Q8TA94-2;Q8TA94	.;ZN563_HUMAN	K	173	ENSP00000293725:E173K	ENSP00000293725:E173K	E	-	1	0	ZNF563	12291322	0.000000	0.05858	0.033000	0.17914	0.732000	0.41865	-0.026000	0.12392	-0.183000	0.10585	0.313000	0.20887	GAA	.		0.438	ZNF563-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344114.1	NM_145276	
ZNF564	163050	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	12637692	12637692	+	Silent	SNP	T	T	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:12637692T>A	ENST00000339282.7	-	4	1426	c.1230A>T	c.(1228-1230)atA>atT	p.I410I	ZNF709_ENST00000428311.1_Intron|CTD-2192J16.20_ENST00000593682.1_3'UTR|CTD-2192J16.21_ENST00000601420.1_RNA	NM_144976.3	NP_659413.1	Q8TBZ8	ZN564_HUMAN	zinc finger protein 564	410					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(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						TTCTTTCGTGTATTTGAAATG	0.408																																					p.I410I		.											.	ZNF564-91	0			c.A1230T						.						135.0	140.0	138.0					19																	12637692		2200	4300	6500	SO:0001819	synonymous_variant	163050	exon4			TTCGTGTATTTGA	BC028367	CCDS42505.1	19p13.2	2013-09-19			ENSG00000249709	ENSG00000249709		"""Zinc fingers, C2H2-type"", ""-"""	31106	protein-coding gene	gene with protein product							Standard	NM_144976		Approved	MGC26914		Q8TBZ8	OTTHUMG00000156418	ENST00000339282.7:c.1230A>T	19.37:g.12637692T>A		86	0		126	56	NM_144976	0	0	1	9	8	B9EGT4|Q6P1K6	Silent	SNP	ENST00000339282.7	37	CCDS42505.1																																																																																			.		0.408	ZNF564-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344120.2	NM_144976	
MAN2B1	4125	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	19	12768936	12768936	+	Missense_Mutation	SNP	G	G	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:12768936G>T	ENST00000456935.2	-	10	1290	c.1250C>A	c.(1249-1251)gCg>gAg	p.A417E	MAN2B1_ENST00000495617.1_Intron|MAN2B1_ENST00000221363.4_Missense_Mutation_p.A416E	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	417					cellular protein modification process (GO:0006464)|mannose metabolic process (GO:0006013)|protein deglycosylation (GO:0006517)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GCCCACCAGCGCCTCCAGCTG	0.677																																					p.A417E		.											.	MAN2B1-94	0			c.C1250A						.						23.0	28.0	26.0					19																	12768936		2203	4299	6502	SO:0001583	missense	4125	exon10			ACCAGCGCCTCCA		CCDS32919.1, CCDS54224.1	19p13.2	2013-09-20			ENSG00000104774	ENSG00000104774	3.2.1.24		6826	protein-coding gene	gene with protein product		609458		MANB			Standard	NM_000528		Approved	LAMAN	uc002mub.2	O00754	OTTHUMG00000156397	ENST00000456935.2:c.1250C>A	19.37:g.12768936G>T	ENSP00000395473:p.Ala417Glu	46	0		117	55	NM_000528	0	0	29	58	29	G5E928|O15330|Q16680|Q93094|Q9BW13	Missense_Mutation	SNP	ENST00000456935.2	37	CCDS32919.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.417276	0.83449	.	.	ENSG00000104774	ENST00000456935;ENST00000536796;ENST00000221363	D;D	0.83591	-1.74;-1.74	4.95	3.84	0.44239	Glycoside hydrolase, family 38, central domain (2);	0.177969	0.27236	N	0.020294	D	0.87962	0.6310	M	0.83953	2.67	0.40994	D	0.984874	P;D	0.53745	0.919;0.962	P;P	0.57283	0.817;0.804	D	0.88632	0.3170	10	0.62326	D	0.03	-30.1886	8.0267	0.30440	0.1555:0.0:0.8445:0.0	.	416;417	G5E928;O00754	.;MA2B1_HUMAN	E	417;356;416	ENSP00000395473:A417E;ENSP00000221363:A416E	ENSP00000221363:A416E	A	-	2	0	MAN2B1	12629936	0.997000	0.39634	0.994000	0.49952	0.912000	0.54170	2.940000	0.49003	2.295000	0.77249	0.306000	0.20318	GCG	.		0.677	MAN2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344062.1		
TRMT1	55621	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	19	13216335	13216335	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:13216335C>T	ENST00000592062.1	-	16	2239	c.1669G>A	c.(1669-1671)Gcc>Acc	p.A557T	TRMT1_ENST00000221504.8_Missense_Mutation_p.A528T|TRMT1_ENST00000437766.1_Missense_Mutation_p.A557T|TRMT1_ENST00000357720.4_Missense_Mutation_p.A557T|LYL1_ENST00000264824.4_5'Flank			Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)	557							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA (guanine-N2-)-methyltransferase activity (GO:0004809)|tRNA binding (GO:0000049)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		CCCCAGTTGGCCTCCGGGTTA	0.662																																					p.A557T		.											.	TRMT1-92	0			c.G1669A						.						61.0	72.0	68.0					19																	13216335		2203	4300	6503	SO:0001583	missense	55621	exon15			AGTTGGCCTCCGG	AF196479	CCDS12293.1, CCDS45997.1	19p13.13	2012-06-12	2012-06-12						25980	protein-coding gene	gene with protein product		611669				10982862	Standard	NM_001142554		Approved	FLJ20244, TRM1	uc002mwl.3	Q9NXH9		ENST00000592062.1:c.1669G>A	19.37:g.13216335C>T	ENSP00000466967:p.Ala557Thr	77	0		89	34	NM_001136035	0	0	16	34	18	O76103|Q548Y5|Q8WVA6	Missense_Mutation	SNP	ENST00000592062.1	37	CCDS12293.1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.853352	0.51270	.	.	ENSG00000104907	ENST00000357720;ENST00000437766;ENST00000221504	T;T;T	0.09073	3.02;3.02;3.02	4.4	3.34	0.38264	.	0.137128	0.47455	D	0.000226	T	0.18425	0.0442	M	0.82193	2.58	0.46774	D	0.999194	P;B	0.38129	0.619;0.439	P;B	0.46299	0.511;0.23	T	0.03077	-1.1075	10	0.22109	T	0.4	-21.6924	11.906	0.52713	0.0:0.8221:0.1779:0.0	.	528;557	Q9NXH9-2;Q9NXH9	.;TRM1_HUMAN	T	557;557;528	ENSP00000350352:A557T;ENSP00000416149:A557T;ENSP00000221504:A528T	ENSP00000221504:A528T	A	-	1	0	TRMT1	13077335	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	2.508000	0.45450	1.048000	0.40298	0.462000	0.41574	GCC	.		0.662	TRMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452780.2	NM_017722	
CACNA1A	773	hgsc.bcm.edu	37	19	13397604	13397604	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:13397604C>T	ENST00000360228.5	-	20	3265	c.3266G>A	c.(3265-3267)gGc>gAc	p.G1089D	CACNA1A_ENST00000573710.2_Missense_Mutation_p.G1090D	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1090					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	CTGGGGCAGGCCGGCGTGGCC	0.682																																					p.G1090D		.											.	CACNA1A-67	0			c.G3269A						.						13.0	17.0	16.0					19																	13397604		1953	4110	6063	SO:0001583	missense	773	exon20			GGCAGGCCGGCGT	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.3266G>A	19.37:g.13397604C>T	ENSP00000353362:p.Gly1089Asp	6	0		55	20	NM_001127221	0	0	0	0	0	J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.112254	0.37242	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.95885	-3.84	5.17	4.11	0.48088	.	1.852710	0.02389	N	0.079494	D	0.94092	0.8106	L	0.40543	1.245	0.09310	N	1	P;P;B	0.40875	0.578;0.731;0.079	B;P;B	0.44359	0.24;0.447;0.051	T	0.82866	-0.0245	10	0.07644	T	0.81	.	14.2748	0.66173	0.1789:0.8211:0.0:0.0	.	1090;1093;1089	O00555;E9PD31;Q9NS88	CAC1A_HUMAN;.;.	D	1089;1093;1090;1090	ENSP00000353362:G1089D	ENSP00000317661:G1090D	G	-	2	0	CACNA1A	13258604	0.922000	0.31269	0.973000	0.42090	0.865000	0.49528	0.412000	0.21131	2.417000	0.82017	0.542000	0.68232	GGC	.		0.682	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068	
RFX1	5989	broad.mit.edu;bcgsc.ca;mdanderson.org	37	19	14074020	14074020	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:14074020G>A	ENST00000254325.4	-	19	2872	c.2638C>T	c.(2638-2640)Ctg>Ttg	p.L880L		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	880	Necessary for dimerization.				immune response (GO:0006955)|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)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			TCGTAGAGCAGCCGGATGAGG	0.667																																					p.L880L		.											.	RFX1-92	0			c.C2638T						.						77.0	62.0	67.0					19																	14074020		2203	4300	6503	SO:0001819	synonymous_variant	5989	exon19			AGAGCAGCCGGAT		CCDS12301.1	19p13.1	2008-07-17				ENSG00000132005			9982	protein-coding gene	gene with protein product	"""trans-acting regulatory factor 1"", ""enhancer factor C"", ""MHC class II regulatory factor RFX"""	600006				1505960, 8289803	Standard	NM_002918		Approved	EF-C	uc002mxv.3	P22670		ENST00000254325.4:c.2638C>T	19.37:g.14074020G>A		55	1		83	26	NM_002918	0	0	5	8	3		Silent	SNP	ENST00000254325.4	37	CCDS12301.1																																																																																			.		0.667	RFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458510.1	NM_002918	
LPHN1	22859	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	19	14261780	14261780	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:14261780G>A	ENST00000340736.6	-	24	4627	c.4330C>T	c.(4330-4332)Cgg>Tgg	p.R1444W	CTB-55O6.12_ENST00000588658.1_RNA|LPHN1_ENST00000361434.3_Missense_Mutation_p.R1439W|CTB-55O6.12_ENST00000588387.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	1444					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|heterophilic cell-cell adhesion (GO:0007157)|neuropeptide signaling pathway (GO:0007218)|positive regulation of synapse maturation (GO:0090129)	axon (GO:0030424)|cell junction (GO:0030054)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTAGGACGCCGCACCTGGTAG	0.716																																					p.R1444W		.											.	LPHN1-523	0			c.C4330T						.						9.0	10.0	9.0					19																	14261780		2137	4188	6325	SO:0001583	missense	22859	exon24			GACGCCGCACCTG	AB020628	CCDS12307.1, CCDS32928.1	19p13.2	2014-08-08				ENSG00000072071		"""-"", ""GPCR / Class B : Orphans"""	20973	protein-coding gene	gene with protein product						10994649	Standard	NM_014921		Approved	KIAA0821, CIRL1, LEC2	uc010xnn.2	O94910		ENST00000340736.6:c.4330C>T	19.37:g.14261780G>A	ENSP00000340688:p.Arg1444Trp	39	0		110	49	NM_001008701	0	0	11	23	12	Q96IE7|Q9BU07|Q9HAR3	Missense_Mutation	SNP	ENST00000340736.6	37	CCDS32928.1	.	.	.	.	.	.	.	.	.	.	G	15.24	2.773838	0.49786	.	.	ENSG00000072071	ENST00000340736;ENST00000361434	T;T	0.71103	-0.54;-0.54	3.94	3.94	0.45596	GPCR, family 2, latrophilin, C-terminal (1);	0.092983	0.42821	D	0.000645	T	0.75517	0.3860	L	0.36672	1.1	0.34781	D	0.73469	D;D	0.76494	0.999;0.999	P;D	0.66979	0.886;0.948	T	0.83194	-0.0082	10	0.66056	D	0.02	.	13.4745	0.61301	0.0:0.0:1.0:0.0	.	1439;1444	O94910-2;O94910	.;LPHN1_HUMAN	W	1444;1439	ENSP00000340688:R1444W;ENSP00000355328:R1439W	ENSP00000340688:R1444W	R	-	1	2	LPHN1	14122780	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	2.963000	0.49184	1.764000	0.52075	0.205000	0.17691	CGG	.		0.716	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459696.1	NM_014921	
EMR2	30817	broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	14865828	14865828	+	Missense_Mutation	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:14865828T>C	ENST00000315576.3	-	14	1979	c.1528A>G	c.(1528-1530)Acc>Gcc	p.T510A	EMR2_ENST00000346057.1_Missense_Mutation_p.T461A|EMR2_ENST00000353005.1_Missense_Mutation_p.T368A|EMR2_ENST00000595839.1_Missense_Mutation_p.T368A|EMR2_ENST00000594076.1_Missense_Mutation_p.T417A|EMR2_ENST00000596991.2_Missense_Mutation_p.T499A|EMR2_ENST00000392965.3_Intron|EMR2_ENST00000601345.1_Missense_Mutation_p.T499A|EMR2_ENST00000392964.3_Missense_Mutation_p.H174R|EMR2_ENST00000392967.2_Missense_Mutation_p.T499A|EMR2_ENST00000353876.1_Missense_Mutation_p.T417A|EMR2_ENST00000594294.1_Missense_Mutation_p.T461A	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	510	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|G-protein coupled receptor signaling pathway (GO:0007186)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						CGGCAGATGGTGCTGGTGTCT	0.572																																					p.T510A		.											.	EMR2-524	0			c.A1528G						.						178.0	134.0	149.0					19																	14865828		2203	4300	6503	SO:0001583	missense	30817	exon14			AGATGGTGCTGGT	AF114491	CCDS32935.1, CCDS59361.1	19p13.1	2014-08-08	2003-11-26			ENSG00000127507		"""CD molecules"", ""-"", ""GPCR / Class B : Orphans"""	3337	protein-coding gene	gene with protein product		606100	"""egf-like module containing, mucin-like, hormone receptor-like sequence 2"""				Standard	NM_013447		Approved	CD312	uc002mzp.2	Q9UHX3		ENST00000315576.3:c.1528A>G	19.37:g.14865828T>C	ENSP00000319883:p.Thr510Ala	176	1		244	100	NM_013447	0	0	0	0	0	B4DQ96|E7ESD7|E9PBR1|E9PEL6|E9PFQ5|E9PG91|Q8NG96|Q9Y4B1	Missense_Mutation	SNP	ENST00000315576.3	37	CCDS32935.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.94|10.94	1.491726|1.491726	0.26774|0.26774	.|.	.|.	ENSG00000127507|ENSG00000127507	ENST00000392964|ENST00000315576;ENST00000392967;ENST00000346057;ENST00000353876;ENST00000353005	T|T;T;T;T;T	0.37058|0.74737	1.22|-0.87;-0.87;-0.87;-0.87;-0.87	4.05|4.05	4.05|4.05	0.47172|0.47172	.|GPS domain (3);	.|.	.|.	.|.	.|.	D|D	0.85146|0.85146	0.5630|0.5630	M|M	0.83118|0.83118	2.625|2.625	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;0.999;1.0;1.0	.|D;D;D;D;D;D;D	.|0.87578	.|0.992;0.996;0.996;0.997;0.996;0.998;0.99	D|D	0.86589|0.86589	0.1859|0.1859	7|9	0.87932|0.87932	D|D	0|0	.|.	9.9468|9.9468	0.41613|0.41613	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|417;510;368;461;510;510;499	.|Q9UHX3-4;A0JNV7;Q9UHX3-5;Q9UHX3-3;A8K6W1;Q9UHX3;Q9UHX3-2	.|.;.;.;.;.;EMR2_HUMAN;.	R|A	174|510;499;461;417;368	ENSP00000376691:H174R|ENSP00000319883:T510A;ENSP00000376694:T499A;ENSP00000263380:T461A;ENSP00000319454:T417A;ENSP00000319838:T368A	ENSP00000376691:H174R|ENSP00000319883:T510A	H|T	-|-	2|1	0|0	EMR2|EMR2	14726828|14726828	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.050000|0.050000	0.14768|0.14768	2.779000|2.779000	0.47734|0.47734	1.763000|1.763000	0.52060|0.52060	0.416000|0.416000	0.27883|0.27883	CAC|ACC	.		0.572	EMR2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466502.2		
OR7A17	26333	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	14991440	14991440	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:14991440G>A	ENST00000327462.2	-	1	824	c.728C>T	c.(727-729)tCa>tTa	p.S243L		NM_030901.1	NP_112163.1	O14581	OR7AH_HUMAN	olfactory receptor, family 7, subfamily A, member 17	243						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12	Ovarian(108;0.203)					TGAGAGGTGTGATGCACAGGT	0.483																																					p.S243L		.											.	OR7A17-68	0			c.C728T						.						111.0	96.0	101.0					19																	14991440		2203	4300	6503	SO:0001583	missense	26333	exon1			AGGTGTGATGCAC	X64993	CCDS12319.1	19p13.12	2012-08-09				ENSG00000185385		"""GPCR / Class A : Olfactory receptors"""	8363	protein-coding gene	gene with protein product						1370859	Standard	NM_030901		Approved	HTPCRX19	uc010xob.2	O14581		ENST00000327462.2:c.728C>T	19.37:g.14991440G>A	ENSP00000328144:p.Ser243Leu	160	0		177	64	NM_030901	0	0	0	0	0	Q6IFQ6|Q96R98	Missense_Mutation	SNP	ENST00000327462.2	37	CCDS12319.1	.	.	.	.	.	.	.	.	.	.	g	13.41	2.228346	0.39399	.	.	ENSG00000185385	ENST00000327462	T	0.38560	1.13	3.37	2.3	0.28687	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38548	U	0.001649	T	0.76456	0.3990	H	0.99454	4.575	0.21841	N	0.99951	P	0.46621	0.881	D	0.65773	0.938	T	0.69942	-0.5008	10	0.87932	D	0	.	10.003	0.41940	0.0:0.0:0.7966:0.2034	.	243	O14581	OR7AH_HUMAN	L	243	ENSP00000328144:S243L	ENSP00000328144:S243L	S	-	2	0	OR7A17	14852440	0.989000	0.36119	0.622000	0.29159	0.006000	0.05464	5.131000	0.64751	0.766000	0.33244	0.454000	0.30748	TCA	.		0.483	OR7A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466523.1	NM_030901	
SYDE1	85360	hgsc.bcm.edu	37	19	15221496	15221496	+	Frame_Shift_Del	DEL	C	C	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:15221496delC	ENST00000342784.2	+	4	1271	c.1240delC	c.(1240-1242)cccfs	p.P414fs	SYDE1_ENST00000600440.1_Frame_Shift_Del_p.P347fs|SYDE1_ENST00000600252.1_Frame_Shift_Del_p.P71fs	NM_033025.4	NP_149014.3	Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1 (C. elegans)	414	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				activation of Rho GTPase activity (GO:0032862)|positive regulation of synaptic transmission (GO:0050806)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptonemal complex assembly (GO:0007130)	cerebellar mossy fiber (GO:0044300)|cytosol (GO:0005829)|synaptic membrane (GO:0097060)	Rho GTPase activator activity (GO:0005100)			endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						CGGCCAGGTGCCCCTCATCAT	0.706																																					p.P414fs		.											.	SYDE1-92	0			c.1240delC						.						11.0	14.0	13.0					19																	15221496		2192	4274	6466	SO:0001589	frameshift_variant	85360	exon4			CAGGTGCCCCTCA	BC029926	CCDS12324.1, CCDS74299.1	19p13.12	2008-02-05				ENSG00000105137			25824	protein-coding gene	gene with protein product						12477932	Standard	XM_005260126		Approved	7h3, FLJ13511	uc002nah.1	Q6ZW31		ENST00000342784.2:c.1240delC	19.37:g.15221496delC	ENSP00000341489:p.Pro414fs	35	1		129	53	NM_033025	0	0	0	0	0	Q7L2I8|Q8N6J2|Q9H8K4	Frame_Shift_Del	DEL	ENST00000342784.2	37	CCDS12324.1																																																																																			.		0.706	SYDE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465666.1	NM_033025	
WIZ	58525	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	19	15535673	15535673	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:15535673C>T	ENST00000389282.4	-	8	4564	c.4351G>A	c.(4351-4353)Gcc>Acc	p.A1451T	WIZ_ENST00000263381.7_Missense_Mutation_p.A594T|WIZ_ENST00000599910.2_Missense_Mutation_p.A768T|WIZ_ENST00000599686.3_Missense_Mutation_p.A635T|WIZ_ENST00000545156.1_Missense_Mutation_p.A765T			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	1451					positive regulation of nuclear cell cycle DNA replication (GO:0010571)|protein heterotrimerization (GO:0070208)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						CTGCGGTAGGCGCCCACCTTC	0.672																																					p.A594T		.											.	WIZ-68	0			c.G1780A						.						11.0	14.0	13.0					19																	15535673		1933	4100	6033	SO:0001583	missense	58525	exon6			GGTAGGCGCCCAC	AK091183	CCDS42516.1	19p13.12	2012-10-05	2007-01-18		ENSG00000011451	ENSG00000011451		"""Zinc fingers, C2H2-type"""	30917	protein-coding gene	gene with protein product			"""WIZ zinc finger"""			9795207, 12226707	Standard	NM_021241		Approved	ZNF803	uc002nbb.4	O95785		ENST00000389282.4:c.4351G>A	19.37:g.15535673C>T	ENSP00000373933:p.Ala1451Thr	89	0		158	11	NM_021241	0	0	30	30	0	B3KVH1|B7ZM82|M0QY21|Q4G0E0|Q6P6B0|Q6ZN24|Q7LDY6|Q7LDZ1|Q96IG5|Q96SQ6|Q9BUR8|Q9NPT1	Missense_Mutation	SNP	ENST00000389282.4	37		.	.	.	.	.	.	.	.	.	.	C	23.9	4.466065	0.84425	.	.	ENSG00000011451	ENST00000389282;ENST00000263381;ENST00000416927;ENST00000545156	T	0.03004	4.08	5.56	4.52	0.55395	.	0.255352	0.38058	N	0.001834	T	0.09686	0.0238	N	0.24115	0.695	0.39149	D	0.962193	P;D;D	0.89917	0.76;1.0;1.0	B;D;D	0.75484	0.125;0.986;0.912	T	0.28808	-1.0032	10	0.54805	T	0.06	-13.7399	15.4372	0.75155	0.0:0.8602:0.1397:0.0	.	1451;594;635	O95785;O95785-2;B3KVH1	WIZ_HUMAN;.;.	T	1451;594;635;765	ENSP00000373933:A1451T	ENSP00000263381:A594T	A	-	1	0	WIZ	15396673	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.515000	0.67049	1.337000	0.45525	-0.172000	0.13284	GCC	.		0.672	WIZ-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_021241	
CYP4F12	66002	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	15794437	15794437	+	Missense_Mutation	SNP	G	G	C	rs536388045		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:15794437G>C	ENST00000550308.1	+	7	1162	c.782G>C	c.(781-783)cGc>cCc	p.R261P	CYP4F12_ENST00000324632.10_Missense_Mutation_p.R261P	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	261					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)	p.R261H(1)		NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	AGGGCCTGCCGCCTGGTGCAT	0.552																																					p.R261P		.											.	CYP4F12-95	1	Substitution - Missense(1)	lung(1)	c.G782C						.						82.0	84.0	83.0					19																	15794437		2198	4295	6493	SO:0001583	missense	66002	exon7			CCTGCCGCCTGGT	AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"""Cytochrome P450s"""	18857	protein-coding gene	gene with protein product		611485	"""cytochrome P450, subfamily IVF, polypeptide 12"""			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.782G>C	19.37:g.15794437G>C	ENSP00000448998:p.Arg261Pro	139	0		139	63	NM_023944	0	0	0	0	0	E7ET51|O60389|Q5JPJ7|Q9HCS1	Missense_Mutation	SNP	ENST00000550308.1	37	CCDS42517.1	.	.	.	.	.	.	.	.	.	.	.	10.34	1.323866	0.24080	.	.	ENSG00000186204	ENST00000550308;ENST00000324632	T;T	0.69040	-0.37;-0.37	2.47	-0.991	0.10235	.	0.966802	0.08465	U	0.941844	T	0.77315	0.4112	M	0.82193	2.58	0.20563	N	0.999883	P	0.46656	0.882	P	0.58577	0.841	T	0.65224	-0.6220	10	0.66056	D	0.02	.	6.1319	0.20209	0.6022:0.0:0.3978:0.0	.	261	Q9HCS2	CP4FC_HUMAN	P	261	ENSP00000448998:R261P;ENSP00000321821:R261P	ENSP00000321821:R261P	R	+	2	0	CYP4F12	15655437	0.741000	0.28217	0.859000	0.33776	0.077000	0.17291	0.793000	0.26944	-0.141000	0.11374	-0.320000	0.08662	CGC	.		0.552	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378938.9		
HAUS8	93323	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	17170457	17170457	+	Missense_Mutation	SNP	T	T	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:17170457T>A	ENST00000253669.5	-	6	520	c.330A>T	c.(328-330)aaA>aaT	p.K110N	HAUS8_ENST00000593360.1_Missense_Mutation_p.K49N|HAUS8_ENST00000448593.2_Missense_Mutation_p.K109N			Q9BT25	HAUS8_HUMAN	HAUS augmin-like complex, subunit 8	110					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	12						TGACGATGCTTTTGTCTAAGA	0.393																																					p.K110N		.											.	HAUS8-90	0			c.A330T						.						125.0	121.0	123.0					19																	17170457		2203	4300	6503	SO:0001583	missense	93323	exon6			GATGCTTTTGTCT	BC004398	CCDS32948.1, CCDS46009.1	19p13.11	2013-10-11	2009-04-20	2009-04-20	ENSG00000131351	ENSG00000131351		"""HAUS augmin-like complex subunits"""	30532	protein-coding gene	gene with protein product		613434	"""HEC1/NDC80 interacting, centrosome associated 1"""	HICE1		19427217	Standard	XM_005260154		Approved	MGC20533, NY-SAR-48	uc002nfe.3	Q9BT25		ENST00000253669.5:c.330A>T	19.37:g.17170457T>A	ENSP00000253669:p.Lys110Asn	77	0		62	29	NM_033417	0	0	0	0	0	B4DJA7|C9JBZ4|Q49AC4|Q86WF0|Q96FX3	Missense_Mutation	SNP	ENST00000253669.5	37	CCDS32948.1	.	.	.	.	.	.	.	.	.	.	T	14.43	2.533623	0.45073	.	.	ENSG00000131351	ENST00000253669;ENST00000448593	T;T	0.43688	0.94;0.94	2.84	0.691	0.18045	.	0.276125	0.33534	N	0.004801	T	0.42630	0.1211	L	0.51422	1.61	0.80722	D	1	D;D;D	0.62365	0.991;0.991;0.991	P;P;P	0.54431	0.752;0.752;0.752	T	0.30297	-0.9983	10	0.72032	D	0.01	-3.266	4.6477	0.12580	0.0:0.2986:0.0:0.7014	.	49;109;110	Q9BT25-2;C9JBZ4;Q9BT25	.;.;HAUS8_HUMAN	N	110;109	ENSP00000253669:K110N;ENSP00000395298:K109N	ENSP00000253669:K110N	K	-	3	2	HAUS8	17031457	0.057000	0.20700	0.177000	0.23020	0.114000	0.19823	-0.373000	0.07494	0.080000	0.16959	0.459000	0.35465	AAA	.		0.393	HAUS8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463015.1	NM_001011699	
MYO9B	4650	broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	17317488	17317488	+	Splice_Site	SNP	A	A	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:17317488A>T	ENST00000594824.1	+	34	5534	c.5387A>T	c.(5386-5388)gAg>gTg	p.E1796V	MYO9B_ENST00000397274.2_Splice_Site_p.E1796V|CTD-3032J10.3_ENST00000601929.1_RNA|MYO9B_ENST00000595618.1_Splice_Site_p.E1796V			Q13459	MYO9B_HUMAN	myosin IXB	1796	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.|Tail.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						CTGCCTGCAGAGCTGCCGGAG	0.602																																					p.E1796V		.											.	MYO9B-67	0			c.A5387T						.						41.0	45.0	44.0					19																	17317488		2176	4265	6441	SO:0001630	splice_region_variant	4650	exon34			CTGCAGAGCTGCC		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"""Myosins / Myosin superfamily : Class IX"""	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.5387-1A>T	19.37:g.17317488A>T		116	2		159	66	NM_001130065	0	0	0	1	1	O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	ENST00000594824.1	37		.	.	.	.	.	.	.	.	.	.	A	14.81	2.645714	0.47258	.	.	ENSG00000099331	ENST00000397274;ENST00000319396	T	0.20200	2.09	4.5	4.5	0.54988	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.52532	D	0.000080	T	0.44180	0.1281	M	0.72118	2.19	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.998;0.999	T	0.36841	-0.9731	9	.	.	.	.	12.9921	0.58625	1.0:0.0:0.0:0.0	.	1796;1796;1802	Q13459;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.	V	1796;141	ENSP00000380444:E1796V	.	E	+	2	0	MYO9B	17178488	1.000000	0.71417	0.994000	0.49952	0.079000	0.17450	7.382000	0.79729	1.687000	0.51057	0.402000	0.26972	GAG	.		0.602	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1		Missense_Mutation
PGLS	25796	hgsc.bcm.edu	37	19	17622614	17622614	+	Silent	SNP	C	C	T	rs11086075	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:17622614C>T	ENST00000252603.2	+	1	177	c.133C>T	c.(133-135)Ctg>Ttg	p.L45L	CTD-3131K8.2_ENST00000596643.1_lincRNA	NM_012088.2	NP_036220.1	O95336	6PGL_HUMAN	6-phosphogluconolactonase	45					carbohydrate metabolic process (GO:0005975)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	6-phosphogluconolactonase activity (GO:0017057)|monosaccharide binding (GO:0048029)			endometrium(1)|lung(1)	2						CGCGCTCGGCCTGTCGGGCGG	0.736													C|||	1862	0.371805	0.2496	0.4207	5008	,	,		10575	0.377		0.4851	False		,,,				2504	0.3804				p.L45L		.											.	PGLS-90	0			c.C133T						.	C		662,2504		107,448,1028	2.0	2.0	2.0		133	2.6	1.0	19	dbSNP_120	2	2200,4094		507,1186,1454	no	coding-synonymous	PGLS	NM_012088.2		614,1634,2482	TT,TC,CC		34.9539,20.9097,30.2537		45/259	17622614	2862,6598	1583	3147	4730	SO:0001819	synonymous_variant	25796	exon1			CTCGGCCTGTCGG	AJ243972	CCDS12361.1	19p13.2	2008-02-05				ENSG00000130313	3.1.1.31		8903	protein-coding gene	gene with protein product		604951				10518023	Standard	NM_012088		Approved	6PGL	uc002ngw.3	O95336		ENST00000252603.2:c.133C>T	19.37:g.17622614C>T		0	0		29	12	NM_012088	0	0	15	29	14		Silent	SNP	ENST00000252603.2	37	CCDS12361.1																																																																																			C|0.617;T|0.383		0.736	PGLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464154.1		
MAP1S	55201	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	19	17844087	17844087	+	Silent	SNP	C	C	T	rs113822615	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:17844087C>T	ENST00000324096.4	+	6	3025	c.2874C>T	c.(2872-2874)agC>agT	p.S958S	MAP1S_ENST00000544059.2_Silent_p.S932S|CTD-3149D2.4_ENST00000595363.1_RNA	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	958	Necessary for association with microtubules.|Necessary for interaction with RASSF1 isoform A and isoform C.				apoptotic DNA fragmentation (GO:0006309)|brain development (GO:0007420)|execution phase of apoptosis (GO:0097194)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|nervous system development (GO:0007399)|neuron projection morphogenesis (GO:0048812)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	actin filament binding (GO:0051015)|beta-tubulin binding (GO:0048487)|DNA binding (GO:0003677)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						CCAGCGGGAGCAGCGCCCACC	0.711																																					p.S958S		.											.	MAP1S-90	0			c.C2874T						.	C		6,4382		0,6,2188	30.0	25.0	27.0		2874	2.4	0.0	19	dbSNP_132	27	0,8584		0,0,4292	no	coding-synonymous	MAP1S	NM_018174.4		0,6,6480	TT,TC,CC		0.0,0.1367,0.0463		958/1060	17844087	6,12966	2194	4292	6486	SO:0001819	synonymous_variant	55201	exon6			CGGGAGCAGCGCC	BC067115	CCDS32954.1	19p13.12	2008-02-05	2006-07-04	2006-07-04		ENSG00000130479			15715	protein-coding gene	gene with protein product		607573	"""chromosome 19 open reading frame 5"", ""VCY2 interacting protein 1"", ""BPY2 interacting protein 1"""	C19orf5, VCY2IP1, BPY2IP1		11827465, 15528209, 16297881, 14627543	Standard	NM_018174		Approved	FLJ10669, MAP8	uc002nhe.1	Q66K74		ENST00000324096.4:c.2874C>T	19.37:g.17844087C>T		182	0		336	21	NM_018174	0	0	36	39	3	B4DH53|Q27QB1|Q6NXF1|Q8N3L8|Q8N3W5|Q8NI88|Q96H94|Q96IT4|Q96SP8|Q9BRC6|Q9H928|Q9NVK7	Silent	SNP	ENST00000324096.4	37	CCDS32954.1																																																																																			C|0.500;T|0.500		0.711	MAP1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466027.1	NM_018174	
JAK3	3718	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	17953936	17953936	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:17953936G>A	ENST00000527670.1	-	4	495	c.466C>T	c.(466-468)Ctc>Ttc	p.L156F	JAK3_ENST00000534444.1_Missense_Mutation_p.L156F|JAK3_ENST00000458235.1_Missense_Mutation_p.L156F|JAK3_ENST00000526008.1_5'UTR			P52333	JAK3_HUMAN	Janus kinase 3	156	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.|Interaction with cytokine/interferon/growth hormone receptors. {ECO:0000250}.				B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	TGCTCCTTGAGACTGAGGCCC	0.677		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""																																p.L156F		.		Dom	yes		19	19p13.1	3718	Janus kinase 3		L	.	JAK3-2418	0			c.C466T						.						17.0	17.0	17.0					19																	17953936		2201	4295	6496	SO:0001583	missense	3718	exon5			CCTTGAGACTGAG	U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"""tyrosine-protein kinase JAK3"", ""leukocyte Janus kinase"""	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.466C>T	19.37:g.17953936G>A	ENSP00000432511:p.Leu156Phe	65	1		107	44	NM_000215	0	0	0	0	0	Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Missense_Mutation	SNP	ENST00000527670.1	37	CCDS12366.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.997398	0.74818	.	.	ENSG00000105639	ENST00000458235;ENST00000428406;ENST00000527670;ENST00000534444	T;T;T	0.73258	-0.73;-0.73;-0.73	4.92	1.36	0.22044	Band 4.1 domain (1);FERM domain (1);	0.370456	0.24479	N	0.038171	T	0.75583	0.3869	M	0.68952	2.095	0.37655	D	0.922571	D;D;P	0.63046	0.992;0.974;0.922	P;P;P	0.60068	0.868;0.847;0.494	T	0.75687	-0.3231	10	0.54805	T	0.06	-21.0373	7.01	0.24857	0.0851:0.0:0.6119:0.303	.	156;156;156	B4DK43;P52333-2;P52333	.;.;JAK3_HUMAN	F	156	ENSP00000391676:L156F;ENSP00000432511:L156F;ENSP00000436421:L156F	ENSP00000413248:L156F	L	-	1	0	JAK3	17814936	0.974000	0.33945	0.944000	0.38274	0.787000	0.44495	1.595000	0.36708	0.484000	0.27630	0.485000	0.47835	CTC	.		0.677	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	NM_000215	
PDE4C	5143	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	18331093	18331093	+	Missense_Mutation	SNP	A	A	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:18331093A>T	ENST00000355502.3	-	11	1616	c.745T>A	c.(745-747)Tcc>Acc	p.S249T	PDE4C_ENST00000539010.1_Missense_Mutation_p.S18T|PDE4C_ENST00000594465.3_Missense_Mutation_p.S249T|AC068499.10_ENST00000594805.3_RNA|PDE4C_ENST00000447275.3_Missense_Mutation_p.S143T|PDE4C_ENST00000598111.2_Missense_Mutation_p.S19T|PDE4C_ENST00000594617.3_Missense_Mutation_p.S249T|PDE4C_ENST00000597297.1_Missense_Mutation_p.S19T|PDE4C_ENST00000262805.12_Missense_Mutation_p.S217T			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	249					cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular space (GO:0005615)|primary cilium (GO:0072372)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	CTGGTTTCGGACAGGTGGGTC	0.597																																					p.S249T		.											.	PDE4C-94	0			c.T745A						.						96.0	101.0	99.0					19																	18331093		2203	4300	6503	SO:0001583	missense	5143	exon8			TTTCGGACAGGTG		CCDS12373.1, CCDS42523.1, CCDS46016.1	19p13.11	2010-06-24	2010-06-24			ENSG00000105650	3.1.4.17	"""Phosphodiesterases"""	8782	protein-coding gene	gene with protein product	"""phosphodiesterase E1 dunce homolog (Drosophila)"""	600128	"""phosphodiesterase 4C, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E1)"""	DPDE1			Standard	NM_001098818		Approved		uc002nik.4	Q08493		ENST00000355502.3:c.745T>A	19.37:g.18331093A>T	ENSP00000347689:p.Ser249Thr	208	0		225	80	NM_000923	0	0	0	0	0	B3KTC4|Q9UN44|Q9UN45|Q9UN46|Q9UPJ6	Missense_Mutation	SNP	ENST00000355502.3	37	CCDS12373.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.631406	0.87660	.	.	ENSG00000105650	ENST00000536045;ENST00000355502;ENST00000536507;ENST00000262805;ENST00000447275;ENST00000545961;ENST00000336173;ENST00000539010;ENST00000543547	T;T;T;T	0.73152	-0.72;-0.7;-0.71;-0.37	4.83	4.83	0.62350	.	0.226740	0.38720	N	0.001595	D	0.85860	0.5795	M	0.92268	3.29	0.39812	D	0.972719	D;D;D;D	0.62365	0.973;0.991;0.969;0.985	P;D;P;P	0.64410	0.638;0.925;0.83;0.777	D	0.89685	0.3893	10	0.87932	D	0	.	12.3551	0.55171	1.0:0.0:0.0:0.0	.	249;217;55;19	Q08493;Q08493-3;O43850;O76104	PDE4C_HUMAN;.;.;.	T	328;249;237;217;143;55;18;18;358	ENSP00000347689:S249T;ENSP00000262805:S217T;ENSP00000402091:S143T;ENSP00000439470:S18T	ENSP00000262805:S217T	S	-	1	0	PDE4C	18192093	1.000000	0.71417	0.982000	0.44146	0.944000	0.59088	7.030000	0.76484	1.823000	0.53134	0.398000	0.26397	TCC	.		0.597	PDE4C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466295.1		
GDF1	2657	hgsc.bcm.edu	37	19	18980172	18980172	+	Missense_Mutation	SNP	G	G	A	rs4808863	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:18980172G>A	ENST00000247005.6	-	8	1698	c.353C>T	c.(352-354)gCc>gTc	p.A118V	CERS1_ENST00000427170.2_3'UTR			P27539	GDF1_HUMAN	growth differentiation factor 1	118			A -> V (in dbSNP:rs4808863). {ECO:0000269|PubMed:2034669}.		growth (GO:0040007)	extracellular space (GO:0005615)											CGCGGCCGAGGCAGGCTCCGA	0.716													g|||	1171	0.233826	0.0401	0.4986	5008	,	,		5099	0.1687		0.3946	False		,,,				2504	0.2096				p.A118V		.											.	GDF1-226	0			c.C353T						.						2.0	2.0	2.0					19																	18980172		1157	2328	3485	SO:0001583	missense	2657	exon8			GCCGAGGCAGGCT	M62302	CCDS42526.1	19p13.11	2014-01-30			ENSG00000130283	ENSG00000130283		"""Endogenous ligands"""	4214	protein-coding gene	gene with protein product		602880				2034669	Standard	NM_001492		Approved			P27539		ENST00000247005.6:c.353C>T	19.37:g.18980172G>A	ENSP00000247005:p.Ala118Val	0	0		7	7	NM_001492	0	0	0	6	6	O43344	Missense_Mutation	SNP	ENST00000247005.6	37	CCDS42526.1	621	0.28434065934065933	39	0.07926829268292683	184	0.5082872928176796	110	0.19230769230769232	288	0.37994722955145116	g	11.82	1.752739	0.31046	.	.	ENSG00000130283	ENST00000247005	T	0.78481	-1.18	3.33	0.926	0.19430	.	0.692776	0.14240	U	0.332130	T	0.00012	0.0000	L	0.44542	1.39	0.58432	P	1.0000000000287557E-6	.	.	.	.	.	.	T	0.41805	-0.9488	7	0.16896	T	0.51	.	9.0728	0.36502	0.0:0.4429:0.5571:0.0	rs4808863	.	.	.	V	118	ENSP00000247005:A118V	ENSP00000247005:A118V	A	-	2	0	GDF1	18841172	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	0.201000	0.17276	-0.047000	0.13423	-0.546000	0.04227	GCC	G|0.715;A|0.285		0.716	GDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465926.1	NM_001492	
SUGP2	10147	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	19115190	19115190	+	Missense_Mutation	SNP	C	C	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:19115190C>A	ENST00000601879.1	-	7	3013	c.2716G>T	c.(2716-2718)Gcc>Tcc	p.A906S	SUGP2_ENST00000337018.6_Missense_Mutation_p.A906S|SUGP2_ENST00000452918.2_Missense_Mutation_p.A906S|SUGP2_ENST00000600377.1_Missense_Mutation_p.A920S|SUGP2_ENST00000456085.2_Missense_Mutation_p.A675S			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	906					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						GGAGCGGGGGcctcctctccc	0.692																																					p.A906S		.											.	SUGP2-91	0			c.G2716T						.						29.0	30.0	30.0					19																	19115190		2203	4300	6503	SO:0001583	missense	10147	exon7			CGGGGGCCTCCTC	AB002363	CCDS12392.1	19p13	2013-01-28	2010-08-10	2010-08-10	ENSG00000064607	ENSG00000064607		"""G patch domain containing"""	18641	protein-coding gene	gene with protein product		607993	"""splicing factor, arginine/serine-rich 14"""	SFRS14		12594045	Standard	NM_014884		Approved	KIAA0365	uc002nkx.2	Q8IX01		ENST00000601879.1:c.2716G>T	19.37:g.19115190C>A	ENSP00000472286:p.Ala906Ser	33	0		77	34	NM_014884	1	0	9	21	11	C9JI71|O15071|O60369|Q5JPH7|Q8WUF7	Missense_Mutation	SNP	ENST00000601879.1	37	CCDS12392.1	.	.	.	.	.	.	.	.	.	.	C	8.421	0.846352	0.16963	.	.	ENSG00000064607	ENST00000337018;ENST00000452918;ENST00000456085	T;T;T	0.12255	2.89;2.89;2.7	4.52	1.17	0.20885	.	1.376180	0.04828	N	0.438232	T	0.05914	0.0154	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.25667	0.131;0.131;0.131	B;B;B	0.22386	0.039;0.039;0.039	T	0.33599	-0.9862	10	0.09590	T	0.72	-4.2155	7.8795	0.29614	0.0:0.732:0.0:0.268	.	675;906;906	E7ETX7;A8K5G0;Q8IX01	.;.;SUGP2_HUMAN	S	906;906;675	ENSP00000337926:A906S;ENSP00000389380:A906S;ENSP00000409603:A675S	ENSP00000337926:A906S	A	-	1	0	SUGP2	18976190	0.000000	0.05858	0.054000	0.19295	0.188000	0.23474	-1.172000	0.03112	0.546000	0.28920	-0.222000	0.12452	GCC	.		0.692	SUGP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464627.1	NM_001017392	
NCAN	1463	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	19337773	19337773	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:19337773G>A	ENST00000252575.6	+	7	1650	c.1551G>A	c.(1549-1551)gtG>gtA	p.V517V	NCAN_ENST00000538881.1_5'Flank	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	517					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	AGGCTGCAGTGAACCAAATGG	0.637																																					p.V517V		.											.	NCAN-94	0			c.G1551A						.						17.0	21.0	20.0					19																	19337773		2176	4246	6422	SO:0001819	synonymous_variant	1463	exon7			TGCAGTGAACCAA	AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"", ""Endogenous ligands"""	2465	protein-coding gene	gene with protein product	"""neurocan proteoglycan"""	600826	"""chondroitin sulfate proteoglycan 3"""	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.1551G>A	19.37:g.19337773G>A		84	0		93	45	NM_004386	0	0	0	0	0	Q9UPK6	Silent	SNP	ENST00000252575.6	37	CCDS12397.1																																																																																			.		0.637	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386	
NCAN	1463	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	19	19338131	19338131	+	Frame_Shift_Del	DEL	C	C	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:19338131delC	ENST00000252575.6	+	8	1801	c.1702delC	c.(1702-1704)cccfs	p.P569fs	NCAN_ENST00000538881.1_Frame_Shift_Del_p.P20fs	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	569					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	CTGGCTGTGGCCCCCTACCAT	0.612																																					p.P568fs		.											.	NCAN-94	0			c.1702delC						.						68.0	76.0	73.0					19																	19338131		2203	4300	6503	SO:0001589	frameshift_variant	1463	exon8			CTGTGGCCCCCTA	AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"", ""Endogenous ligands"""	2465	protein-coding gene	gene with protein product	"""neurocan proteoglycan"""	600826	"""chondroitin sulfate proteoglycan 3"""	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.1702delC	19.37:g.19338131delC	ENSP00000252575:p.Pro569fs	31	0		31	12	NM_004386	0	0	0	0	0	Q9UPK6	Frame_Shift_Del	DEL	ENST00000252575.6	37	CCDS12397.1																																																																																			.		0.612	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386	
GMIP	51291	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	19744710	19744710	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:19744710C>T	ENST00000203556.4	-	19	2511	c.2374G>A	c.(2374-2376)Gac>Aac	p.D792N	GMIP_ENST00000445806.2_Missense_Mutation_p.D763N|GMIP_ENST00000587238.1_Missense_Mutation_p.D766N|GMIP_ENST00000586269.1_5'Flank	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	792	Pro-rich.				intracellular signal transduction (GO:0035556)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						gagtctgggtcaaggtgcggg	0.697																																					p.D792N		.											.	GMIP-91	0			c.G2374A						.						9.0	11.0	10.0					19																	19744710		2179	4252	6431	SO:0001583	missense	51291	exon19			CTGGGTCAAGGTG	AF132541	CCDS12408.1, CCDS74318.1	19p13.11	2011-09-07				ENSG00000089639		"""Rho GTPase activating proteins"""	24852	protein-coding gene	gene with protein product		609694				12093360, 16086184	Standard	XM_005259927		Approved	ARHGAP46	uc002nnd.3	Q9P107		ENST00000203556.4:c.2374G>A	19.37:g.19744710C>T	ENSP00000203556:p.Asp792Asn	39	0		54	26	NM_016573	0	0	3	5	2	A0AVN9|B7ZLZ0	Missense_Mutation	SNP	ENST00000203556.4	37	CCDS12408.1	.	.	.	.	.	.	.	.	.	.	C	5.033	0.191705	0.09547	.	.	ENSG00000089639	ENST00000203556;ENST00000445806	T;T	0.20463	2.07;2.07	3.24	1.09	0.20402	.	1.404820	0.04996	N	0.468276	T	0.10423	0.0255	N	0.08118	0	0.09310	N	1	B;B;B	0.17667	0.0;0.009;0.023	B;B;B	0.15870	0.001;0.01;0.014	T	0.32295	-0.9912	10	0.17832	T	0.49	0.7108	5.5341	0.17001	0.0:0.7405:0.0:0.2595	.	763;766;792	E7ERB7;B7ZLZ0;Q9P107	.;.;GMIP_HUMAN	N	792;763	ENSP00000203556:D792N;ENSP00000397075:D763N	ENSP00000203556:D792N	D	-	1	0	GMIP	19605710	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.228000	0.09114	0.392000	0.25172	0.655000	0.94253	GAC	.		0.697	GMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460551.1	NM_016573	
GMIP	51291	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	19	19748233	19748233	+	Missense_Mutation	SNP	C	C	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:19748233C>G	ENST00000203556.4	-	11	1202	c.1065G>C	c.(1063-1065)gaG>gaC	p.E355D	GMIP_ENST00000445806.2_Missense_Mutation_p.E355D|GMIP_ENST00000587238.1_Missense_Mutation_p.E355D|GMIP_ENST00000586269.1_5'Flank	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	355	Pro-rich.				intracellular signal transduction (GO:0035556)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						gcggcggggcctcgggccgca	0.716																																					p.E355D		.											.	GMIP-91	0			c.G1065C						.						3.0	4.0	4.0					19																	19748233		1878	3738	5616	SO:0001583	missense	51291	exon11			CGGGGCCTCGGGC	AF132541	CCDS12408.1, CCDS74318.1	19p13.11	2011-09-07				ENSG00000089639		"""Rho GTPase activating proteins"""	24852	protein-coding gene	gene with protein product		609694				12093360, 16086184	Standard	XM_005259927		Approved	ARHGAP46	uc002nnd.3	Q9P107		ENST00000203556.4:c.1065G>C	19.37:g.19748233C>G	ENSP00000203556:p.Glu355Asp	11	0		24	9	NM_016573	0	0	1	1	0	A0AVN9|B7ZLZ0	Missense_Mutation	SNP	ENST00000203556.4	37	CCDS12408.1	.	.	.	.	.	.	.	.	.	.	C	8.504	0.864862	0.17250	.	.	ENSG00000089639	ENST00000203556;ENST00000445806	T;T	0.40756	1.02;1.02	4.42	1.02	0.19986	.	0.927753	0.08920	N	0.874561	T	0.20455	0.0492	N	0.12182	0.205	0.09310	N	1	B;B;B	0.09022	0.002;0.002;0.002	B;B;B	0.06405	0.002;0.002;0.002	T	0.28522	-1.0041	10	0.14252	T	0.57	-2.9274	4.5197	0.11954	0.0:0.5329:0.1775:0.2897	.	355;355;355	E7ERB7;B7ZLZ0;Q9P107	.;.;GMIP_HUMAN	D	355	ENSP00000203556:E355D;ENSP00000397075:E355D	ENSP00000203556:E355D	E	-	3	2	GMIP	19609233	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.150000	0.10189	0.092000	0.17331	-0.258000	0.10820	GAG	.		0.716	GMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460551.1	NM_016573	
ZNF486	90649	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	20307780	20307780	+	Silent	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:20307780T>C	ENST00000335117.8	+	4	318	c.261T>C	c.(259-261)tgT>tgC	p.C87C	CTC-260E6.6_ENST00000586657.1_RNA|CTC-260E6.6_ENST00000585498.1_RNA|CTC-260E6.6_ENST00000593655.1_RNA	NM_052852.3	NP_443084.2	Q96H40	ZN486_HUMAN	zinc finger protein 486	87					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.C78*(1)|p.C87*(1)		endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						CAGTTGTGTGTTCTCATTTTG	0.308																																					p.C87C		.											.	ZNF486-47	2	Substitution - Nonsense(2)	endometrium(2)	c.T261C						.						57.0	59.0	59.0					19																	20307780		2169	4280	6449	SO:0001819	synonymous_variant	90649	exon4			TGTGTGTTCTCAT	BC008936	CCDS46029.1	19p12	2014-02-13	2003-12-16	2003-12-17	ENSG00000256229	ENSG00000256229		"""Zinc fingers, C2H2-type"", ""-"""	20807	protein-coding gene	gene with protein product			"""KRAB domain only 2"""	KRBO2			Standard	NM_052852		Approved	MGC2396	uc002nou.3	Q96H40	OTTHUMG00000179731	ENST00000335117.8:c.261T>C	19.37:g.20307780T>C		80	0		93	41	NM_052852	0	0	0	0	0	Q0VG00	Silent	SNP	ENST00000335117.8	37	CCDS46029.1																																																																																			.		0.308	ZNF486-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447843.2	NM_052852	
VSTM2B	342865	broad.mit.edu;mdanderson.org	37	19	30018287	30018287	+	Silent	SNP	G	G	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:30018287G>C	ENST00000335523.7	+	2	337	c.252G>C	c.(250-252)ccG>ccC	p.P84P	CTC-525D6.2_ENST00000579268.1_RNA|CTC-525D6.1_ENST00000582581.1_RNA	NM_001146339.1	NP_001139811.1	A6NLU5	VTM2B_HUMAN	V-set and transmembrane domain containing 2B	84	Ig-like V-type.					integral component of membrane (GO:0016021)				breast(2)	2						TCAGCGTGCCGGGCGCCCGGA	0.736																																					p.P84P		.											.	VSTM2B-68	0			c.G252C						.						16.0	18.0	17.0					19																	30018287		692	1591	2283	SO:0001819	synonymous_variant	342865	exon2			CGTGCCGGGCGCC		CCDS46034.1	19q12	2013-01-11			ENSG00000187135	ENSG00000187135		"""Immunoglobulin superfamily / V-set domain containing"""	33595	protein-coding gene	gene with protein product							Standard	NM_001146339		Approved		uc010xrl.1	A6NLU5		ENST00000335523.7:c.252G>C	19.37:g.30018287G>C		13	1		29	11	NM_001146339	0	0	0	0	0		Silent	SNP	ENST00000335523.7	37	CCDS46034.1																																																																																			.		0.736	VSTM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458601.1	NM_001146339	
RGS9BP	388531	hgsc.bcm.edu	37	19	33167455	33167455	+	Missense_Mutation	SNP	G	G	T	rs259290	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:33167455G>T	ENST00000334176.3	+	1	1143	c.286G>T	c.(286-288)Gcg>Tcg	p.A96S	ANKRD27_ENST00000306065.4_5'Flank|ANKRD27_ENST00000587352.1_5'Flank	NM_207391.2	NP_997274.2	Q6ZS82	R9BP_HUMAN	regulator of G protein signaling 9 binding protein	96			A -> S (in dbSNP:rs259290). {ECO:0000269|PubMed:14702039}.		detection of light stimulus involved in visual perception (GO:0050908)|negative regulation of signal transduction (GO:0009968)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)	integral component of membrane (GO:0016021)				central_nervous_system(1)|lung(2)	3	Esophageal squamous(110;0.137)					CATGCGACGCGCGCTGGAGCT	0.786													G|||	2178	0.434904	0.3805	0.4856	5008	,	,		10415	0.2579		0.6233	False		,,,				2504	0.4611				p.A96S		.											.	RGS9BP-90	0			c.G286T						.	G	SER/ALA	1584,1384		459,666,359	2.0	2.0	2.0		286	3.5	1.0	19	dbSNP_79	2	4397,1763		1670,1057,353	yes	missense	RGS9BP	NM_207391.2	99	2129,1723,712	TT,TG,GG		28.6201,46.6307,34.4763	possibly-damaging	96/236	33167455	5981,3147	1484	3080	4564	SO:0001583	missense	388531	exon1			CGACGCGCGCTGG	AW302149	CCDS12424.1	19q13.11	2008-02-05	2007-08-14			ENSG00000186326			30304	protein-coding gene	gene with protein product		607814	"""regulator of G protein signalling 9 binding protein"""			12119397, 8889548	Standard	NM_207391		Approved	FLJ45744, PERRS, R9AP, RGS9	uc002ntp.1	Q6ZS82		ENST00000334176.3:c.286G>T	19.37:g.33167455G>T	ENSP00000334134:p.Ala96Ser	0	0		9	5	NM_207391	0	0	0	0	0	Q6ZVJ6	Missense_Mutation	SNP	ENST00000334176.3	37	CCDS12424.1	1007	0.4610805860805861	184	0.37398373983739835	188	0.5193370165745856	161	0.28146853146853146	474	0.6253298153034301	G	15.38	2.815844	0.50527	0.533693	0.713799	ENSG00000186326	ENST00000334176	T	0.33654	1.4	4.57	3.5	0.40072	.	0.065802	0.64402	U	0.000009	T	0.00012	0.0000	L	0.28115	0.83	0.20873	P	0.999831543	P	0.52170	0.951	P	0.50352	0.638	T	0.12528	-1.0544	9	0.35671	T	0.21	-21.6697	13.7833	0.63094	0.0:0.0:0.8453:0.1547	rs259290	96	Q6ZS82	R9BP_HUMAN	S	96	ENSP00000334134:A96S	ENSP00000334134:A96S	A	+	1	0	RGS9BP	37859295	1.000000	0.71417	1.000000	0.80357	0.125000	0.20455	4.816000	0.62642	1.092000	0.41356	0.313000	0.20887	GCG	G|0.540;T|0.460		0.786	RGS9BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450337.1	NM_207391	
LRP3	4037	hgsc.bcm.edu	37	19	33696354	33696354	+	Silent	SNP	C	C	T	rs3745977	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:33696354C>T	ENST00000253193.7	+	5	880	c.678C>T	c.(676-678)cgC>cgT	p.R226R	CTD-2540B15.13_ENST00000609744.1_RNA	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	226	LDL-receptor class A 2. {ECO:0000255|PROSITE-ProRule:PRU00124}.				receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					GCTCCACGCGCTGCCTGCCTG	0.756													C|||	253	0.0505192	0.0098	0.0764	5008	,	,		12161	0.121		0.0447	False		,,,				2504	0.0204				p.R226R		.											.	LRP3-92	0			c.C678T						.	C		95,4097		1,93,2002	7.0	9.0	8.0		678	-0.2	1.0	19	dbSNP_107	8	408,7832		13,382,3725	no	coding-synonymous	LRP3	NM_002333.3		14,475,5727	TT,TC,CC		4.9515,2.2662,4.046		226/771	33696354	503,11929	2096	4120	6216	SO:0001819	synonymous_variant	4037	exon5			CACGCGCTGCCTG	AB009462	CCDS12430.1	19q13.11	2013-05-30			ENSG00000130881	ENSG00000130881		"""Low density lipoprotein receptors"""	6695	protein-coding gene	gene with protein product		603159				9693042, 7959795	Standard	NM_002333		Approved	LRP-3, hLRp105	uc010edh.3	O75074	OTTHUMG00000180343	ENST00000253193.7:c.678C>T	19.37:g.33696354C>T		1	0		38	21	NM_002333	0	0	9	25	16	B3KQD6|B4DKF2	Silent	SNP	ENST00000253193.7	37	CCDS12430.1																																																																																			C|0.945;T|0.055		0.756	LRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450842.4		
CHST8	64377	hgsc.bcm.edu	37	19	34263134	34263134	+	Silent	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:34263134C>T	ENST00000262622.4	+	4	1199	c.441C>T	c.(439-441)gtC>gtT	p.V147V	CHST8_ENST00000438847.3_Silent_p.V147V|CHST8_ENST00000434302.1_Silent_p.V147V	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	147					carbohydrate biosynthetic process (GO:0016051)|central nervous system development (GO:0007417)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					GCCGCTGGGTCAGCCTGCACC	0.716																																					p.V147V		.											.	CHST8-156	0			c.C441T						.						6.0	7.0	7.0					19																	34263134		2065	4048	6113	SO:0001819	synonymous_variant	64377	exon5			CTGGGTCAGCCTG	AB047801	CCDS12433.1	19q13.1	2008-02-05				ENSG00000124302		"""Sulfotransferases, membrane-bound"""	15993	protein-coding gene	gene with protein product		610190				10988300, 11001942	Standard	NM_001127895		Approved	GALNAC-4-ST1	uc002nut.4	Q9H2A9		ENST00000262622.4:c.441C>T	19.37:g.34263134C>T		0	0		54	30	NM_001127895	0	0	0	0	0	Q9H3N2	Silent	SNP	ENST00000262622.4	37	CCDS12433.1																																																																																			.		0.716	CHST8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451453.1	NM_022467	
LSM14A	26065	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	34687595	34687595	+	Silent	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:34687595C>T	ENST00000433627.5	+	3	417	c.342C>T	c.(340-342)ttC>ttT	p.F114F	LSM14A_ENST00000544216.3_Silent_p.F114F|LSM14A_ENST00000540746.2_Silent_p.F114F	NM_001114093.1	NP_001107565.1	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	114					cytoplasmic mRNA processing body assembly (GO:0033962)|multicellular organismal development (GO:0007275)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of translation (GO:0006417)|RIG-I signaling pathway (GO:0039529)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|intracellular membrane-bounded organelle (GO:0043231)	double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					ATGGACCTTTCGGCAGGATGC	0.433																																					p.F114F		.											.	LSM14A-91	0			c.C342T						.						202.0	181.0	188.0					19																	34687595		2203	4300	6503	SO:0001819	synonymous_variant	26065	exon3			ACCTTTCGGCAGG	AL834398	CCDS12435.1, CCDS46040.1	19q13.12	2010-01-27	2006-12-21	2006-01-24		ENSG00000257103			24489	protein-coding gene	gene with protein product		610677	"""chromosome 19 open reading frame 13"", ""family with sequence similarity 61, member A"", ""LSM14 homolog A (SCD6, S. cerevisiae)"""	C19orf13, FAM61A		12477932	Standard	NM_015578		Approved	DKFZP434D1335, RAP55A, RAP55	uc002nva.4	Q8ND56		ENST00000433627.5:c.342C>T	19.37:g.34687595C>T		156	1		121	46	NM_001114093	0	0	37	76	39	B4DTG6|Q76LX7|Q96AR3|Q96K73|Q96SN5|Q9UFR3	Silent	SNP	ENST00000433627.5	37	CCDS46040.1																																																																																			.		0.433	LSM14A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451576.3	NM_015578	
UBA2	10054	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	34941214	34941214	+	Silent	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:34941214A>G	ENST00000246548.4	+	9	886	c.816A>G	c.(814-816)ctA>ctG	p.L272L	UBA2_ENST00000439527.2_Silent_p.L176L	NM_005499.2	NP_005490.1	Q9UBT2	SAE2_HUMAN	ubiquitin-like modifier activating enzyme 2	272					cellular protein metabolic process (GO:0044267)|positive regulation of catalytic activity (GO:0043085)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)|SMT3-dependent protein catabolic process (GO:0019950)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|SUMO activating enzyme complex (GO:0031510)	ATP binding (GO:0005524)|enzyme activator activity (GO:0008047)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|SUMO activating enzyme activity (GO:0019948)			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			TGGACAAACTATGGCGGAAAA	0.388																																					p.L272L		.											.	UBA2-227	0			c.A816G						.						110.0	103.0	105.0					19																	34941214		2203	4300	6503	SO:0001819	synonymous_variant	10054	exon9			CAAACTATGGCGG	BC003153	CCDS12439.1	19q13.11	2008-02-05	2007-11-30	2007-11-30		ENSG00000126261		"""Ubiquitin-like modifier activating enzymes"""	30661	protein-coding gene	gene with protein product	"""UBA2, ubiquitin-activating enzyme E1 homolog (yeast)"""	613295	"""SUMO1 activating enzyme subunit 2"""	SAE2		10187858, 9920803	Standard	NM_005499		Approved	FLJ13058, HRIHFB2115, ARX	uc002nvk.3	Q9UBT2		ENST00000246548.4:c.816A>G	19.37:g.34941214A>G		131	0		195	85	NM_005499	0	0	47	78	31	B3KWB9|O95605|Q59H87|Q6IBP6|Q9NTJ1|Q9UED2	Silent	SNP	ENST00000246548.4	37	CCDS12439.1																																																																																			.		0.388	UBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459257.3	NM_005499	
SCGB2B2	284402	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	35085231	35085231	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:35085231G>A	ENST00000601241.1	-	3	2195	c.95C>T	c.(94-96)gCg>gTg	p.A32V	SCGB2B2_ENST00000379204.2_Missense_Mutation_p.A32V|SCGB2B2_ENST00000595326.1_Intron			Q4G0G5	SC2B2_HUMAN	secretoglobin, family 2B, member 2	32						extracellular region (GO:0005576)		p.A32V(1)									CACAACATTCGCAAGCAGTTT	0.512																																					p.A32V		.											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C95T						.						120.0	104.0	109.0					19																	35085231		2203	4300	6503	SO:0001583	missense	284402	exon2			ACATTCGCAAGCA	AK093495	CCDS32989.1	19q13.12	2011-12-14	2011-12-14	2011-12-14	ENSG00000205209	ENSG00000205209		"""Secretoglobins"""	27616	protein-coding gene	gene with protein product		615063	"""secretoglobin-like"""	SCGBL		22155607	Standard	NM_001025591		Approved	SCGB4A2	uc002nvn.3	Q4G0G5		ENST00000601241.1:c.95C>T	19.37:g.35085231G>A	ENSP00000469876:p.Ala32Val	138	0		151	69	NM_001025591	0	0	0	0	0		Missense_Mutation	SNP	ENST00000601241.1	37	CCDS32989.1	.	.	.	.	.	.	.	.	.	.	g	0.015	-1.545760	0.00926	.	.	ENSG00000205209	ENST00000379204	T	0.13196	2.61	0.0465	-0.093	0.13652	.	.	.	.	.	T	0.08537	0.0212	.	.	.	0.09310	N	1	B	0.19073	0.033	B	0.09377	0.004	T	0.38672	-0.9650	7	0.87932	D	0	.	.	.	.	.	32	Q4G0G5	SCGBL_HUMAN	V	32	ENSP00000368502:A32V	ENSP00000368502:A32V	A	-	2	0	SCGBL	39777071	0.024000	0.19004	0.052000	0.19188	0.052000	0.14988	-1.416000	0.02467	-1.443000	0.01953	-1.435000	0.01079	GCG	.		0.512	SCGB2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461457.2	NM_001025591	
LGI4	163175	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	35625482	35625482	+	Nonsense_Mutation	SNP	T	T	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:35625482T>A	ENST00000310123.3	-	1	622	c.103A>T	c.(103-105)Aaa>Taa	p.K35*	LGI4_ENST00000493050.1_Intron|LGI4_ENST00000591633.1_Nonsense_Mutation_p.K35*|LGI4_ENST00000392225.3_Nonsense_Mutation_p.K35*	NM_139284.2	NP_644813.1	Q8N135	LGI4_HUMAN	leucine-rich repeat LGI family, member 4	35					adult locomotory behavior (GO:0008344)|glial cell proliferation (GO:0014009)|myelination in peripheral nervous system (GO:0022011)|neuron maturation (GO:0042551)	extracellular space (GO:0005615)				endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			GCGCTGTCTTTAGAGCAGGAG	0.662																																					p.K35X		.											.	LGI4-91	0			c.A103T						.						38.0	40.0	39.0					19																	35625482		2194	4294	6488	SO:0001587	stop_gained	163175	exon1			TGTCTTTAGAGCA	AJ487519	CCDS12444.1	19q13.13	2008-07-03			ENSG00000153902	ENSG00000153902			18712	protein-coding gene	gene with protein product		608303				12023020	Standard	NM_139284		Approved		uc002nxx.2	Q8N135	OTTHUMG00000044558	ENST00000310123.3:c.103A>T	19.37:g.35625482T>A	ENSP00000312273:p.Lys35*	152	0		189	83	NM_139284	0	0	4	4	0	B2RN53|B9EGS7|Q5M8T1	Nonsense_Mutation	SNP	ENST00000310123.3	37	CCDS12444.1	.	.	.	.	.	.	.	.	.	.	T	43	10.369967	0.99392	.	.	ENSG00000153902	ENST00000310123;ENST00000392225;ENST00000437421	.	.	.	5.15	5.15	0.70609	.	0.121906	0.37261	N	0.002173	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.3581	0.49627	0.0:0.0:0.0:1.0	.	.	.	.	X	35	.	ENSP00000312273:K35X	K	-	1	0	LGI4	40317322	1.000000	0.71417	0.990000	0.47175	0.905000	0.53344	5.063000	0.64332	1.948000	0.56530	0.482000	0.46254	AAA	.		0.662	LGI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103963.1		
FFAR2	2867	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	35941567	35941567	+	Silent	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:35941567T>C	ENST00000599180.2	+	2	1031	c.951T>C	c.(949-951)ggT>ggC	p.G317G	FFAR2_ENST00000601590.1_Intron|FFAR2_ENST00000246549.2_Silent_p.G317G			O15552	FFAR2_HUMAN	free fatty acid receptor 2	317					cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to fatty acid (GO:0071398)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipid storage (GO:0019915)|mucosal immune response (GO:0002385)|positive regulation of acute inflammatory response to non-antigenic stimulus (GO:0002879)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production involved in immune response (GO:0002720)|positive regulation of interleukin-8 secretion (GO:2000484)|regulation of acute inflammatory response (GO:0002673)|regulation of peptide hormone secretion (GO:0090276)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GGGGTGTGGGTCAAGGAGAAG	0.587																																					p.G317G	GBM(40;139 809 9833 23358 48736)	.											.	FFAR2-90	0			c.T951C						.						54.0	58.0	57.0					19																	35941567		2203	4300	6503	SO:0001819	synonymous_variant	2867	exon1			TGTGGGTCAAGGA	AF024690	CCDS12461.1	19q13.1	2012-08-08	2006-02-15	2006-02-15		ENSG00000126262		"""GPCR / Class A : Fatty acid receptors"""	4501	protein-coding gene	gene with protein product		603823	"""G protein-coupled receptor 43"""	GPR43		9344866	Standard	NM_005306		Approved	FFA2R	uc010eea.3	O15552		ENST00000599180.2:c.951T>C	19.37:g.35941567T>C		86	0		123	56	NM_005306	0	0	0	0	0	B0M0J9|Q4VAZ3|Q4VAZ5|Q4VBL5	Silent	SNP	ENST00000599180.2	37	CCDS12461.1																																																																																			.		0.587	FFAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466120.3	NM_005306	
DMKN	93099	hgsc.bcm.edu	37	19	36002386	36002386	+	Missense_Mutation	SNP	C	C	T	rs56743379|rs117522133		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:36002386C>T	ENST00000339686.3	-	5	1021	c.845G>A	c.(844-846)aGt>aAt	p.S282N	DMKN_ENST00000418261.1_Missense_Mutation_p.S282N|DMKN_ENST00000451297.2_Missense_Mutation_p.S282N|DMKN_ENST00000414866.2_5'Flank|DMKN_ENST00000472252.2_5'Flank|DMKN_ENST00000419602.1_Intron|DMKN_ENST00000424570.2_Missense_Mutation_p.S282N|DMKN_ENST00000402589.2_5'Flank|DMKN_ENST00000480502.1_5'Flank|DMKN_ENST00000436012.1_5'Flank|DMKN_ENST00000474928.1_5'Flank|DMKN_ENST00000458071.1_5'Flank|DMKN_ENST00000461300.1_5'Flank|DMKN_ENST00000440396.1_Missense_Mutation_p.S282N|DMKN_ENST00000429837.1_Intron|DMKN_ENST00000447113.2_Missense_Mutation_p.S282N|DMKN_ENST00000443640.1_5'Flank|DMKN_ENST00000392206.2_5'Flank|DMKN_ENST00000462126.1_5'Flank|DMKN_ENST00000488892.1_5'Flank|DMKN_ENST00000467637.1_5'Flank|DMKN_ENST00000602781.1_5'Flank|DMKN_ENST00000492341.2_5'Flank	NM_033317.4	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine	282	Gly-rich.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.S274_S290del(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			gctgccgccactgctgccgcc	0.632																																					p.S282N		.											.	DMKN-155	1	Deletion - In frame(1)	ovary(1)	c.G845A						.						26.0	20.0	22.0					19																	36002386		2190	4261	6451	SO:0001583	missense	93099	exon5			CCGCCACTGCTGC	BC035311	CCDS12463.1, CCDS42549.1, CCDS46051.1, CCDS46052.1, CCDS46053.1, CCDS46054.1, CCDS46054.2, CCDS54250.1, CCDS54251.1, CCDS54252.1	19q13.12	2008-10-27			ENSG00000161249	ENSG00000161249			25063	protein-coding gene	gene with protein product						16374476	Standard	NM_001035516		Approved	ZD52F10	uc002nzm.4	Q6E0U4	OTTHUMG00000048101	ENST00000339686.3:c.845G>A	19.37:g.36002386C>T	ENSP00000342012:p.Ser282Asn	92	0		90	21	NM_001126058	0	0	0	0	0	A3EZ79|A3EZ80|A3EZ81|A3EZ82|A3EZ83|C9J4P6|C9J5N8|C9JAL3|Q32W58|Q32W62|Q32W63|Q32W64|Q32W65|Q32W66|Q32W67|Q6E0U5|Q6UXC7|Q96EW8|Q9BSY6	Missense_Mutation	SNP	ENST00000339686.3	37	CCDS12463.1	.	.	.	.	.	.	.	.	.	.	C	9.113	1.007164	0.19199	.	.	ENSG00000161249	ENST00000339686;ENST00000392207;ENST00000447113;ENST00000440396;ENST00000418261;ENST00000424570;ENST00000451297	T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82;0.82	3.03	0.883	0.19177	.	1.984400	0.02204	N	0.062511	T	0.35098	0.0920	L	0.32530	0.975	0.09310	N	1	B;B;B;B;B	0.09022	0.002;0.002;0.002;0.002;0.001	B;B;B;B;B	0.10450	0.005;0.005;0.005;0.005;0.005	T	0.09862	-1.0655	10	0.12766	T	0.61	.	5.3636	0.16101	0.0:0.731:0.0:0.2689	.	282;282;282;282;282	E7EUS0;Q6E0U4-7;Q6E0U4-3;Q6E0U4-5;Q6E0U4	.;.;.;.;DMKN_HUMAN	N	282	ENSP00000342012:S282N;ENSP00000394908:S282N;ENSP00000415277:S282N;ENSP00000414743:S282N;ENSP00000388404:S282N;ENSP00000409513:S282N	ENSP00000342012:S282N	S	-	2	0	DMKN	40694226	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.157000	0.16402	0.352000	0.24053	-0.221000	0.12465	AGT	C|0.945;T|0.055		0.632	DMKN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109461.2	NM_033317	
DMKN	93099	hgsc.bcm.edu	37	19	36002389	36002389	+	Missense_Mutation	SNP	C	C	T	rs56743379|rs142519211		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:36002389C>T	ENST00000339686.3	-	5	1018	c.842G>A	c.(841-843)aGc>aAc	p.S281N	DMKN_ENST00000418261.1_Missense_Mutation_p.S281N|DMKN_ENST00000451297.2_Missense_Mutation_p.S281N|DMKN_ENST00000414866.2_5'Flank|DMKN_ENST00000472252.2_5'Flank|DMKN_ENST00000419602.1_Intron|DMKN_ENST00000424570.2_Missense_Mutation_p.S281N|DMKN_ENST00000402589.2_5'Flank|DMKN_ENST00000480502.1_5'Flank|DMKN_ENST00000436012.1_5'Flank|DMKN_ENST00000474928.1_5'Flank|DMKN_ENST00000458071.1_5'Flank|DMKN_ENST00000461300.1_5'Flank|DMKN_ENST00000440396.1_Missense_Mutation_p.S281N|DMKN_ENST00000429837.1_Intron|DMKN_ENST00000447113.2_Missense_Mutation_p.S281N|DMKN_ENST00000443640.1_5'Flank|DMKN_ENST00000392206.2_5'Flank|DMKN_ENST00000462126.1_5'Flank|DMKN_ENST00000488892.1_5'Flank|DMKN_ENST00000467637.1_5'Flank|DMKN_ENST00000602781.1_5'Flank|DMKN_ENST00000492341.2_5'Flank	NM_033317.4	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine	281	Gly-rich.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.S274_S290del(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			gccgccactgctgccgccact	0.632																																					p.S281N		.											.	DMKN-155	1	Deletion - In frame(1)	ovary(1)	c.G842A						.						26.0	20.0	22.0					19																	36002389		2188	4250	6438	SO:0001583	missense	93099	exon5			CCACTGCTGCCGC	BC035311	CCDS12463.1, CCDS42549.1, CCDS46051.1, CCDS46052.1, CCDS46053.1, CCDS46054.1, CCDS46054.2, CCDS54250.1, CCDS54251.1, CCDS54252.1	19q13.12	2008-10-27			ENSG00000161249	ENSG00000161249			25063	protein-coding gene	gene with protein product						16374476	Standard	NM_001035516		Approved	ZD52F10	uc002nzm.4	Q6E0U4	OTTHUMG00000048101	ENST00000339686.3:c.842G>A	19.37:g.36002389C>T	ENSP00000342012:p.Ser281Asn	92	0		90	18	NM_001126058	0	0	0	0	0	A3EZ79|A3EZ80|A3EZ81|A3EZ82|A3EZ83|C9J4P6|C9J5N8|C9JAL3|Q32W58|Q32W62|Q32W63|Q32W64|Q32W65|Q32W66|Q32W67|Q6E0U5|Q6UXC7|Q96EW8|Q9BSY6	Missense_Mutation	SNP	ENST00000339686.3	37	CCDS12463.1	.	.	.	.	.	.	.	.	.	.	C	3.259	-0.151610	0.06585	.	.	ENSG00000161249	ENST00000339686;ENST00000392207;ENST00000447113;ENST00000440396;ENST00000418261;ENST00000424570;ENST00000451297	T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92	3.03	1.94	0.25998	.	0.972189	0.08437	N	0.945978	T	0.22742	0.0549	N	0.12746	0.255	0.09310	N	1	B;B;B;B;B	0.20550	0.046;0.046;0.046;0.046;0.017	B;B;B;B;B	0.12837	0.008;0.008;0.008;0.008;0.005	T	0.22173	-1.0224	10	0.23302	T	0.38	.	6.4474	0.21883	0.0:0.86:0.0:0.14	.	281;281;281;281;281	E7EUS0;Q6E0U4-7;Q6E0U4-3;Q6E0U4-5;Q6E0U4	.;.;.;.;DMKN_HUMAN	N	281	ENSP00000342012:S281N;ENSP00000394908:S281N;ENSP00000415277:S281N;ENSP00000414743:S281N;ENSP00000388404:S281N;ENSP00000409513:S281N	ENSP00000342012:S281N	S	-	2	0	DMKN	40694229	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-0.000000	0.12993	0.834000	0.34852	0.561000	0.74099	AGC	C|0.957;T|0.043		0.632	DMKN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109461.2	NM_033317	
DMKN	93099	broad.mit.edu	37	19	36002401	36002401	+	Frame_Shift_Del	DEL	C	C	-	rs56743379|rs140071083|rs201369392		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:36002401delC	ENST00000339686.3	-	5	1006	c.830delG	c.(829-831)agcfs	p.S278fs	DMKN_ENST00000418261.1_Frame_Shift_Del_p.S278fs|DMKN_ENST00000451297.2_Frame_Shift_Del_p.S278fs|DMKN_ENST00000414866.2_5'Flank|DMKN_ENST00000472252.2_5'Flank|DMKN_ENST00000419602.1_Intron|DMKN_ENST00000424570.2_Frame_Shift_Del_p.S278fs|DMKN_ENST00000402589.2_5'Flank|DMKN_ENST00000480502.1_5'Flank|DMKN_ENST00000436012.1_5'Flank|DMKN_ENST00000474928.1_5'Flank|DMKN_ENST00000458071.1_5'Flank|DMKN_ENST00000461300.1_5'Flank|DMKN_ENST00000440396.1_Frame_Shift_Del_p.S278fs|DMKN_ENST00000429837.1_Intron|DMKN_ENST00000447113.2_Frame_Shift_Del_p.S278fs|DMKN_ENST00000443640.1_5'Flank|DMKN_ENST00000392206.2_5'Flank|DMKN_ENST00000462126.1_5'Flank|DMKN_ENST00000488892.1_5'Flank|DMKN_ENST00000467637.1_5'Flank|DMKN_ENST00000602781.1_5'Flank|DMKN_ENST00000492341.2_5'Flank	NM_033317.4	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine	278	Gly-rich.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.S274_S290del(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			gccgccactgctgctgccact	0.642																																					p.S277fs		.											.	DMKN-155	1	Deletion - In frame(1)	ovary(1)	c.830delG						.						27.0	21.0	23.0					19																	36002401		2175	4254	6429	SO:0001589	frameshift_variant	93099	exon5			CCACTGCTGCTGC	BC035311	CCDS12463.1, CCDS42549.1, CCDS46051.1, CCDS46052.1, CCDS46053.1, CCDS46054.1, CCDS46054.2, CCDS54250.1, CCDS54251.1, CCDS54252.1	19q13.12	2008-10-27			ENSG00000161249	ENSG00000161249			25063	protein-coding gene	gene with protein product						16374476	Standard	NM_001035516		Approved	ZD52F10	uc002nzm.4	Q6E0U4	OTTHUMG00000048101	ENST00000339686.3:c.830delG	19.37:g.36002401delC	ENSP00000342012:p.Ser278fs	85	0		81	8	NM_001126058	0	0	0	0	0	A3EZ79|A3EZ80|A3EZ81|A3EZ82|A3EZ83|C9J4P6|C9J5N8|C9JAL3|Q32W58|Q32W62|Q32W63|Q32W64|Q32W65|Q32W66|Q32W67|Q6E0U5|Q6UXC7|Q96EW8|Q9BSY6	Frame_Shift_Del	DEL	ENST00000339686.3	37	CCDS12463.1																																																																																			.		0.642	DMKN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109461.2	NM_033317	
DMKN	93099	broad.mit.edu	37	19	36002403	36002404	+	Frame_Shift_Del	DEL	GC	GC	-	rs56743379|rs138902616		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:36002403_36002404delGC	ENST00000339686.3	-	5	1003_1004	c.827_828delGC	c.(826-828)agcfs	p.S278fs	DMKN_ENST00000418261.1_Frame_Shift_Del_p.S278fs|DMKN_ENST00000451297.2_Frame_Shift_Del_p.S278fs|DMKN_ENST00000414866.2_5'Flank|DMKN_ENST00000472252.2_5'Flank|DMKN_ENST00000419602.1_Intron|DMKN_ENST00000424570.2_Frame_Shift_Del_p.S278fs|DMKN_ENST00000402589.2_5'Flank|DMKN_ENST00000480502.1_5'Flank|DMKN_ENST00000436012.1_5'Flank|DMKN_ENST00000474928.1_5'Flank|DMKN_ENST00000458071.1_5'Flank|DMKN_ENST00000461300.1_5'Flank|DMKN_ENST00000440396.1_Frame_Shift_Del_p.S278fs|DMKN_ENST00000429837.1_Intron|DMKN_ENST00000447113.2_Frame_Shift_Del_p.S278fs|DMKN_ENST00000443640.1_5'Flank|DMKN_ENST00000392206.2_5'Flank|DMKN_ENST00000462126.1_5'Flank|DMKN_ENST00000488892.1_5'Flank|DMKN_ENST00000467637.1_5'Flank|DMKN_ENST00000602781.1_5'Flank|DMKN_ENST00000492341.2_5'Flank	NM_033317.4	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine	278	Gly-rich.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.S274_S290del(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			cgccactgctgctgccactgct	0.649																																					p.276_276del		.											.	DMKN-155	1	Deletion - In frame(1)	ovary(1)	c.827_828del						.																																			SO:0001589	frameshift_variant	93099	exon5			ACTGCTGCTGCCA	BC035311	CCDS12463.1, CCDS42549.1, CCDS46051.1, CCDS46052.1, CCDS46053.1, CCDS46054.1, CCDS46054.2, CCDS54250.1, CCDS54251.1, CCDS54252.1	19q13.12	2008-10-27			ENSG00000161249	ENSG00000161249			25063	protein-coding gene	gene with protein product						16374476	Standard	NM_001035516		Approved	ZD52F10	uc002nzm.4	Q6E0U4	OTTHUMG00000048101	ENST00000339686.3:c.827_828delGC	19.37:g.36002403_36002404delGC	ENSP00000342012:p.Ser278fs	84	0		83	0	NM_001126058	0	0	0	0	0	A3EZ79|A3EZ80|A3EZ81|A3EZ82|A3EZ83|C9J4P6|C9J5N8|C9JAL3|Q32W58|Q32W62|Q32W63|Q32W64|Q32W65|Q32W66|Q32W67|Q6E0U5|Q6UXC7|Q96EW8|Q9BSY6	Frame_Shift_Del	DEL	ENST00000339686.3	37	CCDS12463.1																																																																																			.		0.649	DMKN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109461.2	NM_033317	
DMKN	93099	hgsc.bcm.edu	37	19	36002410	36002412	+	In_Frame_Del	DEL	CTG	CTG	-	rs56743379|rs111543270|rs199498909		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	CTG	CTG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:36002410_36002412delCTG	ENST00000339686.3	-	5	995_997	c.819_821delCAG	c.(817-822)agcagt>agt	p.273_274SS>S	DMKN_ENST00000418261.1_In_Frame_Del_p.273_274SS>S|DMKN_ENST00000451297.2_In_Frame_Del_p.273_274SS>S|DMKN_ENST00000414866.2_5'Flank|DMKN_ENST00000472252.2_5'Flank|DMKN_ENST00000419602.1_Intron|DMKN_ENST00000424570.2_In_Frame_Del_p.273_274SS>S|DMKN_ENST00000402589.2_5'Flank|DMKN_ENST00000480502.1_5'Flank|DMKN_ENST00000436012.1_5'Flank|DMKN_ENST00000474928.1_5'Flank|DMKN_ENST00000458071.1_5'Flank|DMKN_ENST00000461300.1_5'Flank|DMKN_ENST00000440396.1_In_Frame_Del_p.273_274SS>S|DMKN_ENST00000429837.1_Intron|DMKN_ENST00000447113.2_In_Frame_Del_p.273_274SS>S|DMKN_ENST00000443640.1_5'Flank|DMKN_ENST00000392206.2_5'Flank|DMKN_ENST00000462126.1_5'Flank|DMKN_ENST00000488892.1_5'Flank|DMKN_ENST00000467637.1_5'Flank|DMKN_ENST00000602781.1_5'Flank|DMKN_ENST00000492341.2_5'Flank	NM_033317.4	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine	273	Gly-rich.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.S274_S290del(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			gctgctgccactgctgctgccac	0.655																																					p.273_274del		.											.	DMKN-155	1	Deletion - In frame(1)	ovary(1)	c.819_821del						.																																			SO:0001651	inframe_deletion	93099	exon5			CTGCCACTGCTGC	BC035311	CCDS12463.1, CCDS42549.1, CCDS46051.1, CCDS46052.1, CCDS46053.1, CCDS46054.1, CCDS46054.2, CCDS54250.1, CCDS54251.1, CCDS54252.1	19q13.12	2008-10-27			ENSG00000161249	ENSG00000161249			25063	protein-coding gene	gene with protein product						16374476	Standard	NM_001035516		Approved	ZD52F10	uc002nzm.4	Q6E0U4	OTTHUMG00000048101	ENST00000339686.3:c.819_821delCAG	19.37:g.36002416_36002418delCTG	ENSP00000342012:p.Ser274del	82	0		85	13	NM_001126058	0	0	0	0	0	A3EZ79|A3EZ80|A3EZ81|A3EZ82|A3EZ83|C9J4P6|C9J5N8|C9JAL3|Q32W58|Q32W62|Q32W63|Q32W64|Q32W65|Q32W66|Q32W67|Q6E0U5|Q6UXC7|Q96EW8|Q9BSY6	In_Frame_Del	DEL	ENST00000339686.3	37	CCDS12463.1																																																																																			.		0.655	DMKN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109461.2	NM_033317	
KMT2B	9757	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	19	36210835	36210837	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	CTT	CTT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:36210835_36210837delCTT	ENST00000222270.7	+	3	586_588	c.586_588delCTT	c.(586-588)cttdel	p.L197del	KMT2B_ENST00000341701.1_In_Frame_Del_p.L197del|KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_In_Frame_Del_p.L197del	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	197					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										ACTGACTGAACTTCTCCGGCGGG	0.704																																					p.196_196del		.											.	MLL4-697	0			c.586_588del						.																																			SO:0001651	inframe_deletion	8085	exon3			ACTGAACTTCTCC	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.586_588delCTT	19.37:g.36210835_36210837delCTT	ENSP00000222270:p.Leu197del	63	0		114	35	NM_014727	0	0	0	0	0	O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	In_Frame_Del	DEL	ENST00000222270.7	37	CCDS46055.1																																																																																			.		0.704	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727	
KMT2B	9757	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	19	36223774	36223774	+	Missense_Mutation	SNP	C	C	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:36223774C>A	ENST00000222270.7	+	28	6324	c.6324C>A	c.(6322-6324)gaC>gaA	p.D2108E	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Missense_Mutation_p.D2108E	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	2108					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										CTCCTGAGGACCTGCCATCGG	0.677																																					p.D2108E		.											.	MLL4-697	0			c.C6324A						.						12.0	15.0	14.0					19																	36223774		1893	4114	6007	SO:0001583	missense	8085	exon28			TGAGGACCTGCCA	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.6324C>A	19.37:g.36223774C>A	ENSP00000222270:p.Asp2108Glu	74	0		97	38	NM_014727	0	0	19	39	20	O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	ENST00000222270.7	37	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	C	12.16	1.853452	0.32791	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	D;D	0.82711	-1.64;-1.64	4.35	2.16	0.27623	.	0.000000	0.47455	D	0.000227	T	0.78966	0.4367	L	0.40543	1.245	0.30826	N	0.737265	P	0.49961	0.93	P	0.48627	0.584	T	0.77680	-0.2497	10	0.56958	D	0.05	.	9.7373	0.40395	0.0:0.8228:0.0:0.1772	.	2108	Q9UMN6	MLL4_HUMAN	E	2108	ENSP00000222270:D2108E;ENSP00000398837:D2108E	ENSP00000222270:D2108E	D	+	3	2	AD000671.1	40915614	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	1.951000	0.40333	0.567000	0.29293	0.455000	0.32223	GAC	.		0.677	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727	
WDR62	284403	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	36574056	36574056	+	Missense_Mutation	SNP	C	C	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:36574056C>G	ENST00000270301.7	+	11	1463	c.1463C>G	c.(1462-1464)cCc>cGc	p.P488R	WDR62_ENST00000401500.2_Missense_Mutation_p.P488R			O43379	WDR62_HUMAN	WD repeat domain 62	488					cerebral cortex development (GO:0021987)|neurogenesis (GO:0022008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle pole (GO:0000922)				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			AATGGGACACCCATGGACGTG	0.597																																					p.P488R		.											.	WDR62-90	0			c.C1463G						.						56.0	50.0	52.0					19																	36574056		2203	4300	6503	SO:0001583	missense	284403	exon11			GGACACCCATGGA	BX647726	CCDS33001.1, CCDS46059.1	19q13.12	2013-01-09	2005-05-09	2005-05-09	ENSG00000075702	ENSG00000075702		"""WD repeat domain containing"""	24502	protein-coding gene	gene with protein product		613583	"""chromosome 19 open reading frame 14"", ""microcephaly, primary autosomal recessive 2"""	C19orf14, MCPH2		19910486, 20729831, 20890278, 21496009	Standard	NM_001083961		Approved	DKFZP434J046, FLJ33298	uc002odd.2	O43379	OTTHUMG00000048139	ENST00000270301.7:c.1463C>G	19.37:g.36574056C>G	ENSP00000270301:p.Pro488Arg	120	0		148	77	NM_173636	0	0	7	24	17	Q63HP9|Q659D7|Q8NBF7|Q96AD9	Missense_Mutation	SNP	ENST00000270301.7	37	CCDS33001.1	.	.	.	.	.	.	.	.	.	.	C	8.028	0.761119	0.15914	.	.	ENSG00000075702	ENST00000401500;ENST00000270301	T;T	0.62639	1.11;0.01	5.71	4.62	0.57501	WD40/YVTN repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.335653	0.28252	N	0.016039	T	0.55816	0.1944	N	0.24115	0.695	0.39466	D	0.967649	D;P	0.55605	0.972;0.952	P;B	0.51615	0.675;0.372	T	0.50651	-0.8803	10	0.20519	T	0.43	-17.9996	13.9	0.63797	0.0:0.8464:0.1535:0.0	.	488;488	O43379-4;O43379	.;WDR62_HUMAN	R	488	ENSP00000384792:P488R;ENSP00000270301:P488R	ENSP00000270301:P488R	P	+	2	0	WDR62	41265896	0.011000	0.17503	0.567000	0.28434	0.307000	0.27823	1.233000	0.32648	2.709000	0.92574	0.655000	0.94253	CCC	.		0.597	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457436.1	NM_015671	
COX7A1	1346	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	19	36643303	36643303	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:36643303C>T	ENST00000292907.3	-	1	468	c.7G>A	c.(7-9)Gcc>Acc	p.A3T	COX7A1_ENST00000437291.2_5'Flank	NM_001864.2	NP_001855.1	P24310	CX7A1_HUMAN	cytochrome c oxidase subunit VIIa polypeptide 1 (muscle)	3					generation of precursor metabolites and energy (GO:0006091)|hydrogen ion transmembrane transport (GO:1902600)	integral component of membrane (GO:0016021)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)			endometrium(2)|large_intestine(1)	3	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			ACCCGAAGGGCCTGCATTCTG	0.672																																					p.A3T		.											.	COX7A1-226	0			c.G7A						.						27.0	23.0	24.0					19																	36643303		2186	4282	6468	SO:0001583	missense	1346	exon1			GAAGGGCCTGCAT	BC002757	CCDS12490.1	19q13.1	2011-07-04			ENSG00000161281	ENSG00000161281	1.9.3.1	"""Mitochondrial respiratory chain complex / Complex IV"""	2287	protein-coding gene	gene with protein product		123995		COX7A		1327965, 2550906	Standard	NM_001864		Approved	COX7AH	uc002odm.1	P24310	OTTHUMG00000048144	ENST00000292907.3:c.7G>A	19.37:g.36643303C>T	ENSP00000292907:p.Ala3Thr	61	0		107	47	NM_001864	0	0	0	0	0		Missense_Mutation	SNP	ENST00000292907.3	37	CCDS12490.1	.	.	.	.	.	.	.	.	.	.	c	11.74	1.729848	0.30684	.	.	ENSG00000161281	ENST00000292907	T	0.47528	0.84	4.06	4.06	0.47325	.	0.468855	0.20559	N	0.089952	T	0.31009	0.0783	.	.	.	0.32752	N	0.506306	P	0.37781	0.608	B	0.29942	0.109	T	0.44375	-0.9332	9	0.33141	T	0.24	.	12.0192	0.53333	0.0:1.0:0.0:0.0	.	3	P24310	CX7A1_HUMAN	T	3	ENSP00000292907:A3T	ENSP00000292907:A3T	A	-	1	0	COX7A1	41335143	1.000000	0.71417	1.000000	0.80357	0.038000	0.13279	2.875000	0.48491	2.555000	0.86185	0.443000	0.29094	GCC	.		0.672	COX7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109545.2	NM_001864	
ZNF567	163081	broad.mit.edu;bcgsc.ca	37	19	37210811	37210811	+	Silent	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:37210811T>C	ENST00000536254.2	+	6	1407	c.1185T>C	c.(1183-1185)tgT>tgC	p.C395C	ZNF567_ENST00000392163.2_Silent_p.C364C|ZNF567_ENST00000360729.4_Silent_p.C364C|ZNF567_ENST00000585696.1_Silent_p.C364C|ZNF567_ENST00000588311.1_Silent_p.C364C|ZNF850_ENST00000589390.1_Intron			Q8N184	ZN567_HUMAN	zinc finger protein 567	395					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)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			CCTACATTTGTAAAGAATGTG	0.413																																					p.C364C		.											.	ZNF567-90	0			c.T1092C						.						58.0	63.0	61.0					19																	37210811		2203	4300	6503	SO:0001819	synonymous_variant	163081	exon4			CATTTGTAAAGAA	AK093034	CCDS12495.1, CCDS74349.1	19q13.12	2013-10-08				ENSG00000189042		"""Zinc fingers, C2H2-type"", ""-"""	28696	protein-coding gene	gene with protein product						12477932	Standard	XM_006723064		Approved	MGC45586	uc002oep.4	Q8N184		ENST00000536254.2:c.1185T>C	19.37:g.37210811T>C		52	2		59	34	NM_152603	0	0	0	3	3	B3KX49|Q6N044	Silent	SNP	ENST00000536254.2	37																																																																																				.		0.413	ZNF567-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000453549.1	NM_152603	
ZNF793	390927	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	38023351	38023351	+	Missense_Mutation	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:38023351A>G	ENST00000587143.1	+	4	344	c.109A>G	c.(109-111)Atg>Gtg	p.M37V	ZNF793_ENST00000445217.1_Missense_Mutation_p.M37V|ZNF793_ENST00000587986.1_Missense_Mutation_p.M37V|ZNF793_ENST00000588578.1_Missense_Mutation_p.M37V|ZNF793_ENST00000542455.1_Missense_Mutation_p.M37V|ZNF793_ENST00000589319.1_Missense_Mutation_p.M37V			Q6ZN11	ZN793_HUMAN	zinc finger protein 793	37	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)			kidney(2)|lung(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCGGGATGTGATGCTGGAAAC	0.498																																					p.M37V	Melanoma(44;400 1431 1499 19093)	.											.	ZNF793-68	0			c.A109G						.						70.0	74.0	73.0					19																	38023351		2194	4300	6494	SO:0001583	missense	390927	exon6			GATGTGATGCTGG	AK131417	CCDS46062.1	19q13.12	2013-01-08				ENSG00000188227		"""Zinc fingers, C2H2-type"", ""-"""	33115	protein-coding gene	gene with protein product							Standard	NM_001013659		Approved		uc010efm.3	Q6ZN11		ENST00000587143.1:c.109A>G	19.37:g.38023351A>G	ENSP00000468605:p.Met37Val	108	1		175	60	NM_001013659	0	0	7	10	3	E9PGN4|Q7Z3Q9	Missense_Mutation	SNP	ENST00000587143.1	37	CCDS46062.1	.	.	.	.	.	.	.	.	.	.	A	17.89	3.500682	0.64298	.	.	ENSG00000188227	ENST00000542455;ENST00000418827;ENST00000445217;ENST00000322299	T;T	0.03065	4.06;4.06	3.53	3.53	0.40419	Krueppel-associated box (4);	.	.	.	.	T	0.18045	0.0433	M	0.87381	2.88	0.23903	N	0.99651	D;D	0.53885	0.963;0.963	D;D	0.67231	0.95;0.95	T	0.02450	-1.1157	9	0.72032	D	0.01	.	8.6253	0.33886	1.0:0.0:0.0:0.0	.	37;37	Q6ZN11;E9PGN4	ZN793_HUMAN;.	V	37;37;37;36	ENSP00000444355:M37V;ENSP00000396402:M37V	ENSP00000318811:M36V	M	+	1	0	ZNF793	42715191	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.401000	0.66326	1.590000	0.49995	0.460000	0.39030	ATG	.		0.498	ZNF793-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458621.1	NM_001013659	
SIPA1L3	23094	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	38590772	38590772	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:38590772G>A	ENST00000222345.6	+	5	2345	c.1836G>A	c.(1834-1836)ctG>ctA	p.L612L		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	612	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			AGCAACTGCTGAAGCTCGATG	0.602																																					p.L612L		.											.	SIPA1L3-91	0			c.G1836A						.						44.0	41.0	42.0					19																	38590772		2203	4300	6503	SO:0001819	synonymous_variant	23094	exon5			ACTGCTGAAGCTC	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.1836G>A	19.37:g.38590772G>A		83	0		81	35	NM_015073	0	0	1	6	5	Q2TV87	Silent	SNP	ENST00000222345.6	37	CCDS33007.1																																																																																			.		0.602	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278	
GGN	199720	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	38875168	38875168	+	Splice_Site	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:38875168G>A	ENST00000334928.6	-	4	1975	c.1843C>T	c.(1843-1845)Ctg>Ttg	p.L615L	AC005789.9_ENST00000585411.1_RNA|GGN_ENST00000591809.1_5'UTR	NM_152657.3	NP_689870.3	Q86UU5	GGN_HUMAN	gametogenetin	615	Interactions with ZNF403/GGNBP2 and OAZ3. {ECO:0000250}.				cell differentiation (GO:0030154)|gamete generation (GO:0007276)|multicellular organismal development (GO:0007275)|protein localization (GO:0008104)|spermatogenesis (GO:0007283)	nucleolus (GO:0005730)|perinuclear region of cytoplasm (GO:0048471)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GATGTGCTCAGCCTAGTGGGG	0.607											OREG0025448	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.L615L		.											.	GGN-90	0			c.C1843T						.						69.0	61.0	64.0					19																	38875168		2203	4300	6503	SO:0001630	splice_region_variant	199720	exon4			TGCTCAGCCTAGT	AF538035	CCDS12516.1	19q13.2	2008-09-04				ENSG00000179168			18869	protein-coding gene	gene with protein product		609966				12574169	Standard	NM_152657		Approved	FLJ35713, MGC33369	uc002oij.1	Q86UU5		ENST00000334928.6:c.1842-1C>T	19.37:g.38875168G>A		69	0	881	84	41	NM_152657	0	0	0	0	0	Q7RTU6|Q86UU4|Q8NAA1	Silent	SNP	ENST00000334928.6	37	CCDS12516.1																																																																																			.		0.607	GGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459205.1	NM_152657	Silent
RYR1	6261	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	39070652	39070652	+	Missense_Mutation	SNP	A	A	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:39070652A>C	ENST00000359596.3	+	100	14395	c.14395A>C	c.(14395-14397)Atg>Ctg	p.M4799L	RYR1_ENST00000355481.4_Missense_Mutation_p.M4794L|RYR1_ENST00000360985.3_Missense_Mutation_p.M4794L			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4799					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|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)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GTATATGGTGATGTCCCTCTT	0.597																																					p.M4799L		.											.	RYR1-100	0			c.A14395C						.						202.0	143.0	163.0					19																	39070652		2203	4300	6503	SO:0001583	missense	6261	exon100			ATGGTGATGTCCC	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.14395A>C	19.37:g.39070652A>C	ENSP00000352608:p.Met4799Leu	110	1		135	46	NM_000540	0	0	0	0	0	Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	A	15.47	2.843956	0.51164	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.96265	-3.96;-3.96;-3.95	4.84	4.84	0.62591	.	0.056655	0.64402	U	0.000004	D	0.92831	0.7720	L	0.28608	0.87	0.44843	D	0.997853	B;B	0.25850	0.112;0.136	B;B	0.28385	0.053;0.089	D	0.90763	0.4666	10	0.37606	T	0.19	.	14.2367	0.65932	1.0:0.0:0.0:0.0	.	4794;4799	P21817-2;P21817	.;RYR1_HUMAN	L	4799;4794;4794	ENSP00000352608:M4799L;ENSP00000347667:M4794L;ENSP00000354254:M4794L	ENSP00000347667:M4794L	M	+	1	0	RYR1	43762492	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.097000	0.94193	2.033000	0.60031	0.459000	0.35465	ATG	.		0.597	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1		
LGALS7	3963	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	19	39262626	39262626	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:39262626G>A	ENST00000378626.4	-	3	139	c.140C>T	c.(139-141)gCc>gTc	p.A47V	CAPN12_ENST00000601953.1_5'Flank	NM_002307.3	NP_002298.1	P47929	LEG7_HUMAN	lectin, galactoside-binding, soluble, 7	47	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.				apoptotic process (GO:0006915)|heterophilic cell-cell adhesion (GO:0007157)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carbohydrate binding (GO:0030246)			large_intestine(1)	1	all_cancers(60;1.96e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			ATGCAGCGCGGCATCGGAGCC	0.642																																					p.A47V	Colon(82;1915 3815)	.											.	LGALS7-158	0			c.C140T						.						14.0	16.0	15.0					19																	39262626		1271	2984	4255	SO:0001583	missense	3963	exon3			AGCGCGGCATCGG	L07769	CCDS33012.1	19q13.13	2011-08-04	2008-07-25		ENSG00000205076	ENSG00000205076		"""Lectins, galactoside-binding"""	6568	protein-coding gene	gene with protein product	"""galectin 7"""	600615				7534301, 7729568	Standard	NM_002307		Approved	GAL7, PIG1, TP53I1, LGALS7A	uc002oje.3	P47929		ENST00000378626.4:c.140C>T	19.37:g.39262626G>A	ENSP00000367891:p.Ala47Val	250	1		440	216	NM_002307	0	0	0	1	1	Q6IB87	Missense_Mutation	SNP	ENST00000378626.4	37	CCDS33012.1	.	.	.	.	.	.	.	.	.	.	g	2.835	-0.241837	0.05906	.	.	ENSG00000205076	ENST00000378626	T	0.14391	2.51	4.09	0.582	0.17412	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	1.026800	0.07731	N	0.945314	T	0.03263	0.0095	N	0.01250	-0.93	0.25994	N	0.982201	B	0.28055	0.199	B	0.15484	0.013	T	0.39522	-0.9610	10	0.09084	T	0.74	-17.4985	3.7512	0.08568	0.2879:0.0:0.5421:0.1701	.	47	P47929	LEG7_HUMAN	V	47	ENSP00000367891:A47V	ENSP00000367891:A47V	A	-	2	0	LGALS7	43954466	0.013000	0.17824	0.000000	0.03702	0.002000	0.02628	0.865000	0.27940	0.014000	0.14944	-0.642000	0.03964	GCC	.		0.642	LGALS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462636.1	NM_002307	
LGALS7	3963	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	19	39262667	39262667	+	Missense_Mutation	SNP	G	G	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:39262667G>T	ENST00000378626.4	-	3	98	c.99C>A	c.(97-99)ttC>ttA	p.F33L	CAPN12_ENST00000601953.1_5'Flank	NM_002307.3	NP_002298.1	P47929	LEG7_HUMAN	lectin, galactoside-binding, soluble, 7	33	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.				apoptotic process (GO:0006915)|heterophilic cell-cell adhesion (GO:0007157)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carbohydrate binding (GO:0030246)			large_intestine(1)	1	all_cancers(60;1.96e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			GGTTTACATGGAACCTGGAAG	0.557																																					p.F33L	Colon(82;1915 3815)	.											.	LGALS7-158	0			c.C99A						.						8.0	8.0	8.0					19																	39262667		1146	2680	3826	SO:0001583	missense	3963	exon3			TACATGGAACCTG	L07769	CCDS33012.1	19q13.13	2011-08-04	2008-07-25		ENSG00000205076	ENSG00000205076		"""Lectins, galactoside-binding"""	6568	protein-coding gene	gene with protein product	"""galectin 7"""	600615				7534301, 7729568	Standard	NM_002307		Approved	GAL7, PIG1, TP53I1, LGALS7A	uc002oje.3	P47929		ENST00000378626.4:c.99C>A	19.37:g.39262667G>T	ENSP00000367891:p.Phe33Leu	200	1		303	184	NM_002307	0	0	0	0	0	Q6IB87	Missense_Mutation	SNP	ENST00000378626.4	37	CCDS33012.1	.	.	.	.	.	.	.	.	.	.	g	17.10	3.302990	0.60195	.	.	ENSG00000205076	ENST00000378626	T	0.10860	2.83	4.09	3.05	0.35203	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.64402	D	0.000010	T	0.26376	0.0644	M	0.81112	2.525	0.49051	D	0.999743	D	0.63046	0.992	P	0.58266	0.836	T	0.01613	-1.1312	10	0.54805	T	0.06	-33.1276	9.2208	0.37375	0.1057:0.0:0.8943:0.0	.	33	P47929	LEG7_HUMAN	L	33	ENSP00000367891:F33L	ENSP00000367891:F33L	F	-	3	2	LGALS7	43954507	1.000000	0.71417	0.948000	0.38648	0.248000	0.25809	1.227000	0.32576	0.844000	0.35094	0.313000	0.20887	TTC	.		0.557	LGALS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462636.1	NM_002307	
FBXO17	115290	hgsc.bcm.edu	37	19	39440918	39440918	+	Silent	SNP	T	T	C	rs2304117	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:39440918T>C	ENST00000292852.4	-	2	383	c.42A>G	c.(40-42)ccA>ccG	p.P14P	SARS2_ENST00000448145.2_5'Flank|CTC-360G5.8_ENST00000599996.1_5'Flank|FBXO17_ENST00000595329.1_Silent_p.P14P	NM_024907.5	NP_079183.4	Q96EF6	FBX17_HUMAN	F-box protein 17	14						SCF ubiquitin ligase complex (GO:0019005)	glycoprotein binding (GO:0001948)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)	7	all_cancers(60;8.37e-07)|all_lung(34;3.71e-07)|Lung NSC(34;4.17e-07)|all_epithelial(25;1.13e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			GGGCCAGGGATGGGTCCGCCG	0.731													c|||	2378	0.47484	0.3336	0.3746	5008	,	,		11867	0.6796		0.4195	False		,,,				2504	0.5828				p.P23P		.											.	FBXO17-226	0			c.A69G						.		,	1052,2556		213,626,965	3.0	4.0	3.0		42,69	0.5	0.0	19	dbSNP_100	3	2265,4819		496,1273,1773	no	coding-synonymous,coding-synonymous	FBXO17	NM_024907.5,NM_148169.1	,	709,1899,2738	CC,CT,TT		31.9735,29.1574,31.0232	,	14/279,23/288	39440918	3317,7375	1804	3542	5346	SO:0001819	synonymous_variant	115290	exon2			CAGGGATGGGTCC	AF386743	CCDS12526.1	19q13.2	2010-07-02	2004-06-15	2004-06-16		ENSG00000269190		"""F-boxes /  ""other"""""	18754	protein-coding gene	gene with protein product	"""F-box only protein 26"""	609094	"""F-box only protein 17"""	FBXO26			Standard	NM_148169		Approved	FBG4, FLJ25205, MGC9379, FLJ11798, Fbx17		Q96EF6		ENST00000292852.4:c.42A>G	19.37:g.39440918T>C		2	0		25	5	NM_148169	0	0	1	1	0	Q96LQ4	Silent	SNP	ENST00000292852.4	37	CCDS12526.1																																																																																			T|0.545;C|0.455		0.731	FBXO17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463273.1	NM_024907	
ACP7	390928	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	39591616	39591616	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:39591616C>T	ENST00000331256.5	+	8	1109	c.835C>T	c.(835-837)Ccg>Tcg	p.P279S	PAPL_ENST00000594229.1_Silent_p.G237G	NM_001004318.2	NP_001004318.2	Q6ZNF0	PAPL_HUMAN		279						extracellular region (GO:0005576)	acid phosphatase activity (GO:0003993)|metal ion binding (GO:0046872)										GGCAGCCCGGCCGTGGATCAT	0.632																																					p.P279S		.											.	.	0			c.C835T						.						66.0	71.0	70.0					19																	39591616		2203	4300	6503	SO:0001583	missense	0	exon8			GCCCGGCCGTGGA																												ENST00000331256.5:c.835C>T	19.37:g.39591616C>T	ENSP00000327557:p.Pro279Ser	50	0		66	24	NM_001004318	0	0	0	0	0	B2RN68	Missense_Mutation	SNP	ENST00000331256.5	37	CCDS33018.1	.	.	.	.	.	.	.	.	.	.	C	32	5.142870	0.94560	.	.	ENSG00000183760	ENST00000331256	D	0.85088	-1.94	5.81	5.81	0.92471	Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	D	0.94729	0.8299	H	0.94964	3.605	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95661	0.8715	10	0.87932	D	0	-35.654	17.5777	0.87956	0.0:1.0:0.0:0.0	.	279	Q6ZNF0	PAPL_HUMAN	S	279	ENSP00000327557:P279S	ENSP00000327557:P279S	P	+	1	0	AC011443.1	44283456	1.000000	0.71417	0.991000	0.47740	0.978000	0.69477	6.956000	0.76013	2.741000	0.93983	0.655000	0.94253	CCG	.		0.632	PAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463810.1		
LRFN1	57622	hgsc.bcm.edu	37	19	39805934	39805934	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:39805934G>A	ENST00000248668.4	-	1	42	c.43C>T	c.(43-45)Ccc>Tcc	p.P15S	CTC-246B18.8_ENST00000601911.1_RNA	NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	15						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			AGGGCAGCGGGCGGCGGCGAG	0.711																																					p.P15S		.											.	LRFN1-70	0			c.C43T						.						4.0	5.0	5.0					19																	39805934		1946	4000	5946	SO:0001583	missense	57622	exon1			CAGCGGGCGGCGG	BC014678	CCDS46071.1	19q13.2	2013-02-11				ENSG00000128011		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29290	protein-coding gene	gene with protein product		612807				10819331, 16828986	Standard	NM_020862		Approved	KIAA1484, SALM2	uc002okw.2	Q9P244		ENST00000248668.4:c.43C>T	19.37:g.39805934G>A	ENSP00000248668:p.Pro15Ser	6	0		43	16	NM_020862	0	0	1	1	0	Q8TBS9	Missense_Mutation	SNP	ENST00000248668.4	37	CCDS46071.1	.	.	.	.	.	.	.	.	.	.	G	6.516	0.463498	0.12402	.	.	ENSG00000128011	ENST00000248668	T	0.61510	0.1	4.26	1.9	0.25705	.	.	.	.	.	T	0.28499	0.0705	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.21690	-1.0238	9	0.09843	T	0.71	.	3.6604	0.08237	0.1355:0.0:0.6177:0.2468	.	15	Q9P244	LRFN1_HUMAN	S	15	ENSP00000248668:P15S	ENSP00000248668:P15S	P	-	1	0	LRFN1	44497774	0.899000	0.30636	0.228000	0.23943	0.290000	0.27261	1.516000	0.35856	0.944000	0.37579	0.650000	0.86243	CCC	.		0.711	LRFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463835.1	NM_020862	
AXL	558	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	41758838	41758838	+	Missense_Mutation	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:41758838T>C	ENST00000301178.4	+	16	2082	c.1892T>C	c.(1891-1893)tTc>tCc	p.F631S	AXL_ENST00000593513.1_Missense_Mutation_p.F363S|AXL_ENST00000359092.3_Missense_Mutation_p.F622S	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	631	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interferon-alpha (GO:0035457)|cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte homeostasis (GO:0034101)|forebrain cell migration (GO:0021885)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|natural killer cell differentiation (GO:0001779)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of tumor necrosis factor production (GO:0032720)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein kinase B signaling (GO:0051897)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|phosphatidylserine binding (GO:0001786)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						CTACACAGCTTCCTCCTCTAT	0.517																																					p.F631S		.											.	AXL-1403	0			c.T1892C						.						82.0	85.0	84.0					19																	41758838		2203	4300	6503	SO:0001583	missense	558	exon16			ACAGCTTCCTCCT	M76125	CCDS12574.1, CCDS12575.1, CCDS62677.1	19q13.1	2013-02-11				ENSG00000167601	2.7.10.1	"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	905	protein-coding gene	gene with protein product		109135				1656220	Standard	NM_021913		Approved	UFO, JTK11	uc010ehj.3	P30530		ENST00000301178.4:c.1892T>C	19.37:g.41758838T>C	ENSP00000301178:p.Phe631Ser	59	0		63	26	NM_021913	0	0	7	9	2	Q8N5L2|Q9UD27	Missense_Mutation	SNP	ENST00000301178.4	37	CCDS12575.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.038470	0.75617	.	.	ENSG00000167601	ENST00000301178;ENST00000359092	D;D	0.84873	-1.91;-1.91	5.0	5.0	0.66597	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.066436	0.64402	D	0.000008	D	0.93331	0.7874	H	0.95539	3.685	0.48830	D	0.999716	D;P	0.55800	0.973;0.955	P;P	0.58077	0.742;0.832	D	0.95057	0.8192	10	0.87932	D	0	-18.3289	13.8149	0.63285	0.0:0.0:0.0:1.0	.	622;631	P30530-2;P30530	.;UFO_HUMAN	S	631;622	ENSP00000301178:F631S;ENSP00000351995:F622S	ENSP00000301178:F631S	F	+	2	0	AXL	46450678	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	3.823000	0.55715	2.108000	0.64289	0.533000	0.62120	TTC	.		0.517	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463323.2		
CEACAM5	1048	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	42224956	42224956	+	Missense_Mutation	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:42224956T>C	ENST00000221992.6	+	8	2000	c.1886T>C	c.(1885-1887)aTc>aCc	p.I629T	CEACAM5_ENST00000405816.1_Missense_Mutation_p.I629T|CEACAM5_ENST00000398599.4_Missense_Mutation_p.I628T|CEA_ENST00000598976.1_Intron	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	629	Ig-like 7.				homotypic cell-cell adhesion (GO:0034109)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myotube differentiation (GO:0010832)	anchored component of membrane (GO:0031225)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of external side of plasma membrane (GO:0071575)|integral component of plasma membrane (GO:0005887)	GPI anchor binding (GO:0034235)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		TCTTGGCGTATCAATGGGATA	0.507																																					p.I629T		.											.	CEACAM5-92	0			c.T1886C						.						194.0	163.0	174.0					19																	42224956		2203	4300	6503	SO:0001583	missense	1048	exon8			GGCGTATCAATGG	M17303	CCDS12584.1	19q13.1-q13.2	2013-01-29			ENSG00000105388	ENSG00000105388		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1817	protein-coding gene	gene with protein product		114890		CEA			Standard	XM_005258413		Approved	CD66e	uc002orl.3	P06731	OTTHUMG00000151061	ENST00000221992.6:c.1886T>C	19.37:g.42224956T>C	ENSP00000221992:p.Ile629Thr	279	0		317	153	NM_004363	0	0	0	0	0	H9KVA7	Missense_Mutation	SNP	ENST00000221992.6	37	CCDS12584.1	.	.	.	.	.	.	.	.	.	.	T	8.026	0.760588	0.15914	.	.	ENSG00000105388	ENST00000221992;ENST00000405816;ENST00000378181	T;T	0.11821	2.74;2.74	2.17	1.12	0.20585	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.16300	0.0392	M	0.68593	2.085	0.09310	N	1	B;B	0.32604	0.377;0.044	B;B	0.38056	0.264;0.111	T	0.29731	-1.0002	9	0.87932	D	0	.	3.8439	0.08926	0.0:0.1913:0.0:0.8087	.	629;629	P06731;Q53G30	CEAM5_HUMAN;.	T	629;629;347	ENSP00000221992:I629T;ENSP00000385072:I629T	ENSP00000221992:I629T	I	+	2	0	CEACAM5	46916796	0.200000	0.23398	0.007000	0.13788	0.021000	0.10359	0.818000	0.27295	0.271000	0.22005	0.383000	0.25322	ATC	.		0.507	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321132.2	NM_004363	
MEGF8	1954	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	19	42838298	42838298	+	Frame_Shift_Del	DEL	G	G	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:42838298delG	ENST00000251268.6	+	3	491	c.491delG	c.(490-492)tggfs	p.W164fs	MEGF8_ENST00000334370.4_Frame_Shift_Del_p.W164fs	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	164	EGF-like 1. {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)				GAGCCGGGCTGGGGGGGTCCT	0.701																																					p.W164fs		.											.	MEGF8-23	0			c.491delG						.						20.0	23.0	22.0					19																	42838298		1997	4139	6136	SO:0001589	frameshift_variant	1954	exon3			CGGGCTGGGGGGG	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.491delG	19.37:g.42838298delG	ENSP00000251268:p.Trp164fs	29	0		131	48	NM_001271938	0	0	0	0	0	A8KAY0|O75097	Frame_Shift_Del	DEL	ENST00000251268.6	37																																																																																				.		0.701	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410	
MEGF8	1954	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	42861562	42861562	+	Missense_Mutation	SNP	C	C	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:42861562C>A	ENST00000251268.6	+	28	4837	c.4837C>A	c.(4837-4839)Cag>Aag	p.Q1613K	MEGF8_ENST00000334370.4_Missense_Mutation_p.Q1546K	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1613					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)				TCAGGCCCCCCAGACCGTGGA	0.652																																					p.Q1613K		.											.	MEGF8-23	0			c.C4837A						.						57.0	60.0	59.0					19																	42861562		2203	4300	6503	SO:0001583	missense	1954	exon28			GCCCCCCAGACCG	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.4837C>A	19.37:g.42861562C>A	ENSP00000251268:p.Gln1613Lys	53	0		84	37	NM_001271938	0	0	0	0	0	A8KAY0|O75097	Missense_Mutation	SNP	ENST00000251268.6	37		.	.	.	.	.	.	.	.	.	.	C	7.840	0.721799	0.15372	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.19938	2.11;2.11	5.21	5.21	0.72293	Galactose oxidase/kelch, beta-propeller (1);Kelch-type beta propeller (1);	0.721805	0.12558	N	0.458393	T	0.11836	0.0288	N	0.08118	0	0.80722	D	1	B;B	0.22211	0.062;0.066	B;B	0.18561	0.021;0.022	T	0.06427	-1.0827	10	0.06236	T	0.91	-3.1397	17.5358	0.87830	0.0:1.0:0.0:0.0	.	1613;1546	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	K	1546;1613	ENSP00000334219:Q1546K;ENSP00000251268:Q1613K	ENSP00000251268:Q1613K	Q	+	1	0	MEGF8	47553402	1.000000	0.71417	0.891000	0.34965	0.496000	0.33645	6.832000	0.75329	2.453000	0.82957	0.563000	0.77884	CAG	.		0.652	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410	
PSG6	5675	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	43411912	43411912	+	Missense_Mutation	SNP	G	G	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:43411912G>T	ENST00000292125.2	-	4	845	c.801C>A	c.(799-801)aaC>aaA	p.N267K	PSG6_ENST00000187910.2_Missense_Mutation_p.N267K|PSG6_ENST00000402603.4_Intron	NM_002782.4	NP_002773.1	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6	267	Ig-like C2-type 2.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				TGTAGGTGTAGTTCCGACTCT	0.498																																					p.N267K		.											.	PSG6-92	0			c.C801A						.						310.0	291.0	297.0					19																	43411912		2201	4298	6499	SO:0001583	missense	5675	exon4			GGTGTAGTTCCGA		CCDS12613.1, CCDS33038.1	19q13.2	2013-01-29			ENSG00000170848	ENSG00000170848		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9523	protein-coding gene	gene with protein product		176395				1690992	Standard	NM_002782		Approved			Q00889	OTTHUMG00000151127	ENST00000292125.2:c.801C>A	19.37:g.43411912G>T	ENSP00000292125:p.Asn267Lys	162	0		156	52	NM_001031850	0	0	0	0	0	O75244|Q15224|Q15235|Q549K1	Missense_Mutation	SNP	ENST00000292125.2	37	CCDS12613.1	.	.	.	.	.	.	.	.	.	.	N	11.73	1.725200	0.30593	.	.	ENSG00000170848	ENST00000187910;ENST00000292125	T;T	0.12039	2.72;2.72	1.42	0.311	0.15831	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.25680	0.0625	M	0.85099	2.735	0.09310	N	1	D;D	0.56287	0.96;0.975	P;P	0.52909	0.699;0.713	T	0.14254	-1.0479	9	0.72032	D	0.01	.	3.255	0.06828	0.2969:0.0:0.7031:0.0	.	267;267	Q00889;Q00889-2	PSG6_HUMAN;.	K	267	ENSP00000187910:N267K;ENSP00000292125:N267K	ENSP00000187910:N267K	N	-	3	2	PSG6	48103752	0.000000	0.05858	0.001000	0.08648	0.064000	0.16182	-0.195000	0.09546	0.792000	0.33850	0.134000	0.15878	AAC	.		0.498	PSG6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321436.1	NM_002782	
PSG7	5676	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	43439806	43439806	+	RNA	SNP	C	C	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:43439806C>A	ENST00000406070.2	-	0	276				PSG7_ENST00000446844.3_RNA|PSG7_ENST00000471557.1_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				CAGTAAGATTCTGGGGCAAAT	0.463																																					.		.											.	.	0			.						.						147.0	156.0	153.0					19																	43439806		2201	4296	6497			5676	.			AAGATTCTGGGGC			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9524	protein-coding gene	gene with protein product		176396	"""pregnancy specific beta-1-glycoprotein 7"""				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43439806C>A		180	0		200	97	.	0	0	0	0	0	Q15232	RNA	SNP	ENST00000406070.2	37																																																																																				.		0.463	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650	
IRGQ	126298	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	19	44096194	44096194	+	Frame_Shift_Del	DEL	G	G	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:44096194delG	ENST00000602269.1	-	2	2041	c.1856delC	c.(1855-1857)cctfs	p.P619fs	IRGQ_ENST00000601520.1_Intron|IRGQ_ENST00000422989.1_Frame_Shift_Del_p.P619fs|L34079.2_ENST00000594374.1_Intron			Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	619										endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				GGCAGGCTCAGGGGGTGCCAG	0.657																																					p.P619fs		.											.	IRGQ-92	0			c.1856delC						.						79.0	91.0	87.0					19																	44096194		2199	4289	6488	SO:0001589	frameshift_variant	126298	exon3			GGCTCAGGGGGTG	AF322648	CCDS33040.1	19q13.31	2013-07-03	2005-10-31	2005-10-31		ENSG00000167378			24868	protein-coding gene	gene with protein product			"""immunity-related GTPase family, Q1"""	IRGQ1		16277747	Standard	NM_001007561		Approved	FKSG27	uc010eiv.2	Q8WZA9		ENST00000602269.1:c.1856delC	19.37:g.44096194delG	ENSP00000472250:p.Pro619fs	92	0		252	123	NM_001007561	0	0	0	0	0	B2RNP3	Frame_Shift_Del	DEL	ENST00000602269.1	37	CCDS33040.1																																																																																			.		0.657	IRGQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463205.1	NM_001007561	
IRGQ	126298	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	44097165	44097165	+	Silent	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:44097165C>T	ENST00000602269.1	-	2	1070	c.885G>A	c.(883-885)acG>acA	p.T295T	IRGQ_ENST00000601520.1_5'Flank|IRGQ_ENST00000422989.1_Silent_p.T295T|L34079.2_ENST00000594374.1_Silent_p.T8T			Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	295	IRG-type G.									endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				CGTCGTAGTGCGTTGGGTGAG	0.692																																					p.T295T		.											.	IRGQ-92	0			c.G885A						.						37.0	37.0	37.0					19																	44097165		2203	4300	6503	SO:0001819	synonymous_variant	126298	exon3			GTAGTGCGTTGGG	AF322648	CCDS33040.1	19q13.31	2013-07-03	2005-10-31	2005-10-31		ENSG00000167378			24868	protein-coding gene	gene with protein product			"""immunity-related GTPase family, Q1"""	IRGQ1		16277747	Standard	NM_001007561		Approved	FKSG27	uc010eiv.2	Q8WZA9		ENST00000602269.1:c.885G>A	19.37:g.44097165C>T		36	0		168	61	NM_001007561	0	0	5	13	8	B2RNP3	Silent	SNP	ENST00000602269.1	37	CCDS33040.1																																																																																			.		0.692	IRGQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463205.1	NM_001007561	
IRGC	56269	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	44223111	44223111	+	Missense_Mutation	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:44223111A>G	ENST00000244314.5	+	2	600	c.401A>G	c.(400-402)tAt>tGt	p.Y134C		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	134	IRG-type G.					membrane (GO:0016020)	GTP binding (GO:0005525)|hydrolase activity, acting on acid anhydrides (GO:0016817)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				TTCAGCCGCTATGACTTCTTC	0.642																																					p.Y134C	Colon(189;350 2037 11447 13433 38914)	.											.	IRGC-70	0			c.A401G						.						17.0	16.0	16.0					19																	44223111		2203	4298	6501	SO:0001583	missense	56269	exon2			GCCGCTATGACTT	BC066939	CCDS12629.1	19q13.32	2008-02-05	2005-10-31	2005-10-31	ENSG00000124449	ENSG00000124449			28835	protein-coding gene	gene with protein product			"""immunity-related GTPase family, cinema 1"""	IRGC1		12477932	Standard	NM_019612		Approved	Iigp5, CINEMA	uc002oxh.3	Q6NXR0	OTTHUMG00000154587	ENST00000244314.5:c.401A>G	19.37:g.44223111A>G	ENSP00000244314:p.Tyr134Cys	59	0		104	45	NM_019612	0	0	1	1	0	Q05BR8	Missense_Mutation	SNP	ENST00000244314.5	37	CCDS12629.1	.	.	.	.	.	.	.	.	.	.	A	16.78	3.218582	0.58560	.	.	ENSG00000124449	ENST00000244314	T	0.28454	1.61	5.71	4.7	0.59300	.	0.082538	0.50627	D	0.000108	T	0.33469	0.0864	L	0.44542	1.39	0.43313	D	0.99532	P	0.48407	0.91	P	0.49276	0.605	T	0.05178	-1.0901	10	0.54805	T	0.06	.	9.7922	0.40713	0.9187:0.0:0.0813:0.0	.	134	Q6NXR0	IIGP5_HUMAN	C	134	ENSP00000244314:Y134C	ENSP00000244314:Y134C	Y	+	2	0	IRGC	48914951	1.000000	0.71417	0.084000	0.20598	0.957000	0.61999	4.894000	0.63206	0.998000	0.38996	0.454000	0.30748	TAT	.		0.642	IRGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336191.1	NM_019612	
IRGC	56269	broad.mit.edu	37	19	44223898	44223898	+	Silent	SNP	C	C	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:44223898C>A	ENST00000244314.5	+	2	1387	c.1188C>A	c.(1186-1188)gcC>gcA	p.A396A		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	396						membrane (GO:0016020)	GTP binding (GO:0005525)|hydrolase activity, acting on acid anhydrides (GO:0016817)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				CTGAGGACGCCCAGCGTGTCC	0.652																																					p.A396A	Colon(189;350 2037 11447 13433 38914)	.											.	IRGC-70	0			c.C1188A						.						35.0	31.0	32.0					19																	44223898		2203	4300	6503	SO:0001819	synonymous_variant	56269	exon2			GGACGCCCAGCGT	BC066939	CCDS12629.1	19q13.32	2008-02-05	2005-10-31	2005-10-31	ENSG00000124449	ENSG00000124449			28835	protein-coding gene	gene with protein product			"""immunity-related GTPase family, cinema 1"""	IRGC1		12477932	Standard	NM_019612		Approved	Iigp5, CINEMA	uc002oxh.3	Q6NXR0	OTTHUMG00000154587	ENST00000244314.5:c.1188C>A	19.37:g.44223898C>A		111	0		148	5	NM_019612	0	0	0	0	0	Q05BR8	Silent	SNP	ENST00000244314.5	37	CCDS12629.1																																																																																			.		0.652	IRGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336191.1	NM_019612	
ZNF155	7711	bcgsc.ca	37	19	44501240	44501240	+	Missense_Mutation	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:44501240A>G	ENST00000270014.2	+	5	1359	c.1231A>G	c.(1231-1233)Aca>Gca	p.T411A	RP11-15A1.7_ENST00000586860.1_RNA|ZNF155_ENST00000407951.2_Missense_Mutation_p.T422A|ZNF155_ENST00000590615.1_Missense_Mutation_p.T411A|RP11-15A1.7_ENST00000589021.1_RNA	NM_001260487.1|NM_198089.2	NP_001247416|NP_932355	Q12901	ZN155_HUMAN	zinc finger protein 155	411					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)			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15		Prostate(69;0.0352)				GGGATTTTATACAAATTCACA	0.418																																					p.T422A	NSCLC(61;554 1277 20909 42067 42312)	.											.	ZNF155-154	0			c.A1264G						.						83.0	88.0	86.0					19																	44501240		2201	4300	6501	SO:0001583	missense	7711	exon6			TTTTATACAAATT	U09852	CCDS12634.1, CCDS58668.1	19q13.2-q13.32	2013-01-08	2006-08-22			ENSG00000204920		"""Zinc fingers, C2H2-type"", ""-"""	12940	protein-coding gene	gene with protein product		604086	"""zinc finger protein 155 (pHZ-96)"""			7557990	Standard	NM_001260486		Approved	pHZ-96	uc010xwt.2	Q12901		ENST00000270014.2:c.1231A>G	19.37:g.44501240A>G	ENSP00000270014:p.Thr411Ala	99	2		144	66	NM_001260488	0	0	0	0	0	A2BDE6|B2RB63|B4DM95|J3KQ08|Q6AZZ8|Q9UIE1|Q9UK14	Missense_Mutation	SNP	ENST00000270014.2	37	CCDS12634.1	.	.	.	.	.	.	.	.	.	.	A	13.14	2.149104	0.37923	.	.	ENSG00000204920	ENST00000407951;ENST00000270014	T;T	0.22539	1.95;1.95	2.37	-2.57	0.06248	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19725	0.0474	L	0.51853	1.615	0.09310	N	1	P;P	0.51537	0.946;0.587	P;P	0.54060	0.741;0.489	T	0.16217	-1.0410	9	0.11182	T	0.66	.	0.3639	0.00368	0.3499:0.2658:0.143:0.2412	.	422;411	B4DM95;Q12901	.;ZN155_HUMAN	A	422;411	ENSP00000385163:T422A;ENSP00000270014:T411A	ENSP00000270014:T411A	T	+	1	0	ZNF155	49193080	0.000000	0.05858	0.000000	0.03702	0.630000	0.37929	-3.767000	0.00371	-0.667000	0.05303	0.379000	0.24179	ACA	.		0.418	ZNF155-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000460074.1	NM_003445	
ZNF227	7770	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	19	44739706	44739706	+	Missense_Mutation	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:44739706A>G	ENST00000313040.7	+	6	1328	c.1123A>G	c.(1123-1125)Act>Gct	p.T375A	ZNF227_ENST00000391961.2_Missense_Mutation_p.T324A|ZNF227_ENST00000589005.1_Missense_Mutation_p.T324A	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	375					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				GAGAGTCCACACTGAAGAAAA	0.443																																					p.T375A		.											.	ZNF227-91	0			c.A1123G						.						75.0	85.0	82.0					19																	44739706		2203	4300	6503	SO:0001583	missense	7770	exon6			GTCCACACTGAAG	AK092253	CCDS12636.1, CCDS74388.1	19q13.32	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	13020	protein-coding gene	gene with protein product							Standard	XM_005259232		Approved		uc002oyu.3	Q86WZ6		ENST00000313040.7:c.1123A>G	19.37:g.44739706A>G	ENSP00000321049:p.Thr375Ala	56	0		61	5	NM_182490	0	1	4	5	0	B3KRU7|B7Z5P9	Missense_Mutation	SNP	ENST00000313040.7	37	CCDS12636.1	.	.	.	.	.	.	.	.	.	.	A	18.12	3.553182	0.65425	.	.	ENSG00000131115	ENST00000313040;ENST00000328297;ENST00000391961;ENST00000418980;ENST00000377916	T;T	0.26518	1.73;1.73	4.54	2.37	0.29283	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19167	0.0460	L	0.41906	1.305	0.80722	D	1	B;B;B;B	0.29378	0.243;0.243;0.009;0.243	B;B;B;B	0.31016	0.123;0.123;0.021;0.123	T	0.06092	-1.0846	9	0.56958	D	0.05	.	5.4408	0.16507	0.7551:0.0:0.0885:0.1564	.	296;354;327;375	B7Z6M2;Q658S5;Q9NS43;Q86WZ6	.;.;.;ZN227_HUMAN	A	375;332;324;354;76	ENSP00000321049:T375A;ENSP00000375823:T324A	ENSP00000321049:T375A	T	+	1	0	ZNF227	49431546	0.884000	0.30299	0.965000	0.40720	0.997000	0.91878	2.123000	0.41996	0.666000	0.31087	0.460000	0.39030	ACT	.		0.443	ZNF227-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460720.1	NM_182490	
APOE	348	hgsc.bcm.edu	37	19	45411941	45411941	+	Missense_Mutation	SNP	T	T	C	rs429358	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:45411941T>C	ENST00000252486.4	+	4	499	c.388T>C	c.(388-390)Tgc>Cgc	p.C130R		NM_000041.2	NP_000032.1	P02649	APOE_HUMAN	apolipoprotein E	130	8 X 22 AA approximate tandem repeats.		C -> R (in HLPP3; form E3**, form E4, form E4/3 and some forms E5-type; only form E3** is disease-linked; dbSNP:rs429358). {ECO:0000269|PubMed:11042151, ECO:0000269|PubMed:12966036, ECO:0000269|PubMed:8287539, ECO:0000269|PubMed:9360638}.		aging (GO:0007568)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|artery morphogenesis (GO:0048844)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|cellular response to cholesterol (GO:0071397)|cellular response to growth factor stimulus (GO:0071363)|cellular response to interleukin-1 (GO:0071347)|cGMP-mediated signaling (GO:0019934)|cholesterol catabolic process (GO:0006707)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|cytoskeleton organization (GO:0007010)|fatty acid homeostasis (GO:0055089)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|intracellular transport (GO:0046907)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|long-chain fatty acid transport (GO:0015909)|low-density lipoprotein particle remodeling (GO:0034374)|maintenance of location in cell (GO:0051651)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of blood coagulation (GO:0030195)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cholesterol biosynthetic process (GO:0045541)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of dendritic spine development (GO:0061000)|negative regulation of dendritic spine maintenance (GO:1902951)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of inflammatory response (GO:0050728)|negative regulation of lipid biosynthetic process (GO:0051055)|negative regulation of lipid transport across blood brain barrier (GO:1903001)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of phospholipid efflux (GO:1902999)|negative regulation of platelet activation (GO:0010544)|negative regulation of postsynaptic membrane organization (GO:1901627)|negative regulation of presynaptic membrane organization (GO:1901630)|nitric oxide mediated signal transduction (GO:0007263)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system axon regeneration (GO:0014012)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of axon extension (GO:0045773)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of dendritic spine maintenance (GO:1902952)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of lipid transport across blood brain barrier (GO:1903002)|positive regulation of low-density lipoprotein particle receptor catabolic process (GO:0032805)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of neurofibrillary tangle assembly (GO:1902998)|positive regulation of neuron death (GO:1901216)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phospholipid efflux (GO:1902995)|positive regulation of postsynaptic membrane organization (GO:1901628)|positive regulation of presynaptic membrane organization (GO:1901631)|protein import (GO:0017038)|receptor-mediated endocytosis (GO:0006898)|regulation of axon extension (GO:0030516)|regulation of beta-amyloid clearance (GO:1900221)|regulation of Cdc42 protein signal transduction (GO:0032489)|regulation of neuron death (GO:1901214)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of tau-protein kinase activity (GO:1902947)|response to dietary excess (GO:0002021)|response to ethanol (GO:0045471)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)|response to retinoic acid (GO:0032526)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|synaptic transmission, cholinergic (GO:0007271)|triglyceride metabolic process (GO:0006641)|vasodilation (GO:0042311)|very-low-density lipoprotein particle clearance (GO:0034447)|very-low-density lipoprotein particle remodeling (GO:0034372)	blood microparticle (GO:0072562)|chylomicron (GO:0042627)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|high-density lipoprotein particle (GO:0034364)|intermediate-density lipoprotein particle (GO:0034363)|late endosome (GO:0005770)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)|vesicle (GO:0031982)	antioxidant activity (GO:0016209)|beta-amyloid binding (GO:0001540)|cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|hydroxyapatite binding (GO:0046848)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle receptor binding (GO:0050750)|metal chelating activity (GO:0046911)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|phospholipid binding (GO:0005543)|protein homodimerization activity (GO:0042803)|tau protein binding (GO:0048156)|very-low-density lipoprotein particle receptor binding (GO:0070326)			large_intestine(1)|lung(2)|prostate(1)	4	Lung NSC(12;0.0018)|all_lung(12;0.00481)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	GGAGGACGTGTGCGGCCGCCT	0.736													c|||	754	0.150559	0.2678	0.1037	5008	,	,		8484	0.0863		0.1551	False		,,,				2504	0.0869				p.C130R		.											.	APOE-90	0			c.T388C	GRCh37	CM900020	APOE	M	rs429358	.	C	ARG/CYS	808,3460		86,636,1412	12.0	12.0	12.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	388	3.0	0.4	19	dbSNP_80	12	961,7261		66,829,3216	no	missense	APOE	NM_000041.2	180	152,1465,4628	CC,CT,TT	http://www.ncbi.nlm.nih.gov/pubmed?term	11.6882,18.9316,14.1633	benign	130/318	45411941	1769,10721	2134	4111	6245	SO:0001583	missense	348	exon4			GACGTGTGCGGCC	K00396	CCDS12647.1	19q13.31	2013-01-24			ENSG00000130203	ENSG00000130203		"""Apolipoproteins"""	613	protein-coding gene	gene with protein product		107741	"""Alzheimer disease 2 (APOE*E4-associated, late onset)"""	AD2		10662539	Standard	NM_000041		Approved		uc002pab.3	P02649	OTTHUMG00000128901	ENST00000252486.4:c.388T>C	19.37:g.45411941T>C	ENSP00000252486:p.Cys130Arg	2	0		94	31	NM_000041	0	0	33	42	9	B2RC15|C0JYY5|Q9P2S4	Missense_Mutation	SNP	ENST00000252486.4	37	CCDS12647.1	326	0.14926739926739926	128	0.2601626016260163	40	0.11049723756906077	50	0.08741258741258741	108	0.1424802110817942	C	0.007	-1.965077	0.00461	0.189316	0.116882	ENSG00000130203	ENST00000252486;ENST00000446996;ENST00000434152;ENST00000425718	T;T;T	0.81078	-0.24;-1.45;-1.45	5.25	3.02	0.34903	Apolipoprotein/apolipophorin (1);	0.486559	0.18187	N	0.148941	T	0.00012	0.0000	N	0.00289	-1.7	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.25641	-1.0126	9	0.02654	T	1	-8.1152	3.0382	0.06129	0.1694:0.5443:0.1863:0.1001	rs429358;rs630496;rs61228756	130	P02649	APOE_HUMAN	R	130;130;175;130	ENSP00000252486:C130R;ENSP00000413135:C130R;ENSP00000410423:C130R	ENSP00000252486:C130R	C	+	1	0	APOE	50103781	0.019000	0.18553	0.404000	0.26397	0.109000	0.19521	0.121000	0.15667	1.239000	0.43787	-0.215000	0.12644	TGC	T|0.861;C|0.139		0.736	APOE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250865.2	NM_000041	
KLC3	147700	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	45851316	45851316	+	Missense_Mutation	SNP	C	C	T	rs369849969		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:45851316C>T	ENST00000391946.2	+	5	779	c.677C>T	c.(676-678)gCg>gTg	p.A226V	KLC3_ENST00000585434.1_Missense_Mutation_p.A225V|KLC3_ENST00000470402.1_Missense_Mutation_p.A240V	NM_177417.2	NP_803136.2	Q6P597	KLC3_HUMAN	kinesin light chain 3	226					axon cargo transport (GO:0008088)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|motile cilium (GO:0031514)|neuron projection (GO:0043005)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		TATGAGGTGGCGGTGCCTCTG	0.667																																					p.A226V		.											.	KLC3-91	0			c.C677T						.	C	VAL/ALA	0,4388		0,0,2194	17.0	19.0	19.0		677	2.2	0.3	19		19	1,8597		0,1,4298	no	missense	KLC3	NM_177417.2	64	0,1,6492	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	226/505	45851316	1,12985	2194	4299	6493	SO:0001583	missense	147700	exon5			AGGTGGCGGTGCC	AK092481	CCDS12660.2	19q13	2013-01-10			ENSG00000104892	ENSG00000104892		"""Tetratricopeptide (TTC) repeat domain containing"""	20717	protein-coding gene	gene with protein product		601334					Standard	XM_005258536		Approved	KLC2L, KNS2B, KLCt	uc002pbf.1	Q6P597	OTTHUMG00000143722	ENST00000391946.2:c.677C>T	19.37:g.45851316C>T	ENSP00000375810:p.Ala226Val	172	1		323	157	NM_177417	0	0	2	2	0	A0AVM3|A2RUT6|Q6GMU2|Q8NAL1|Q8WWJ9	Missense_Mutation	SNP	ENST00000391946.2	37	CCDS12660.2	.	.	.	.	.	.	.	.	.	.	C	20.5	4.000902	0.74818	0.0	1.16E-4	ENSG00000104892	ENST00000391946;ENST00000470402	D;D	0.89415	-2.51;-2.51	3.24	2.2	0.27929	Tetratricopeptide-like helical (1);Rabaptin, GTPase-Rab5 binding (1);Tetratricopeptide repeat-containing (1);	0.000000	0.64402	D	0.000001	D	0.86058	0.5842	M	0.69823	2.125	0.58432	D	0.999998	D;D;D	0.76494	0.976;0.999;0.981	B;B;B	0.42282	0.185;0.382;0.282	D	0.85365	0.1110	10	0.87932	D	0	-28.5578	8.6564	0.34066	0.0:0.881:0.0:0.119	.	225;240;226	Q6P597-2;Q6P597-3;Q6P597	.;.;KLC3_HUMAN	V	226;240	ENSP00000375810:A226V;ENSP00000436019:A240V	ENSP00000375810:A226V	A	+	2	0	KLC3	50543156	1.000000	0.71417	0.347000	0.25668	0.792000	0.44763	7.437000	0.80417	0.948000	0.37687	0.407000	0.27541	GCG	.		0.667	KLC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289776.1	NM_145275	
ERCC1	2067	broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	45924593	45924593	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:45924593G>A	ENST00000300853.3	-	3	755	c.164C>T	c.(163-165)gCg>gTg	p.A55V	ERCC1_ENST00000013807.5_Missense_Mutation_p.A55V|ERCC1_ENST00000589165.1_Missense_Mutation_p.A55V|ERCC1_ENST00000423698.2_Intron|ERCC1_ENST00000591636.1_Missense_Mutation_p.A55V|ERCC1_ENST00000340192.7_Missense_Mutation_p.A55V	NM_001983.3	NP_001974.1	P07992	ERCC1_HUMAN	excision repair cross-complementation group 1	55					cell proliferation (GO:0008283)|chromosome organization (GO:0051276)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|male gonad development (GO:0008584)|mitotic recombination (GO:0006312)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|negative regulation of telomere maintenance (GO:0032205)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|nucleotide-excision repair, DNA incision, 5'-to lesion (GO:0006296)|oogenesis (GO:0048477)|post-embryonic hemopoiesis (GO:0035166)|pyrimidine dimer repair by nucleotide-excision repair (GO:0000720)|replicative cell aging (GO:0001302)|response to nutrient (GO:0007584)|response to oxidative stress (GO:0006979)|response to sucrose (GO:0009744)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)|syncytium formation (GO:0006949)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	cytoplasm (GO:0005737)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	damaged DNA binding (GO:0003684)|endonuclease activity (GO:0004519)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|single-stranded DNA binding (GO:0003697)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|skin(1)	15		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0247)		CTGAGGGGCCGCCTGGGCCGA	0.642								Nucleotide excision repair (NER)																													p.A55V		.											.	ERCC1-659	0			c.C164T						.						74.0	72.0	73.0					19																	45924593		2203	4300	6503	SO:0001583	missense	2067	exon3			GGGGCCGCCTGGG		CCDS12662.1, CCDS12663.1, CCDS54279.1	19q13.32	2014-03-07	2014-03-07			ENSG00000012061			3433	protein-coding gene	gene with protein product		126380	"""excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)"""			6462228	Standard	NM_001983		Approved	RAD10	uc002pbs.2	P07992		ENST00000300853.3:c.164C>T	19.37:g.45924593G>A	ENSP00000300853:p.Ala55Val	93	1		89	36	NM_001983	0	0	88	192	104	B2RC01|B3KRR0|Q7Z7F5|Q96S40	Missense_Mutation	SNP	ENST00000300853.3	37	CCDS12662.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.921855	0.33908	.	.	ENSG00000012061	ENST00000300853;ENST00000340192;ENST00000013807	T;T;T	0.46451	0.89;0.88;0.87	4.78	-7.67	0.01272	.	2.403810	0.02097	N	0.053586	T	0.19248	0.0462	N	0.12182	0.205	0.09310	N	1	B;B;B	0.15719	0.014;0.001;0.002	B;B;B	0.04013	0.001;0.001;0.001	T	0.10382	-1.0632	10	0.39692	T	0.17	7.706	2.0457	0.03560	0.1535:0.3216:0.3043:0.2206	.	55;55;55	Q7Z7F5;Q96S40;P07992	.;.;ERCC1_HUMAN	V	55	ENSP00000300853:A55V;ENSP00000345203:A55V;ENSP00000013807:A55V	ENSP00000013807:A55V	A	-	2	0	ERCC1	50616433	0.000000	0.05858	0.000000	0.03702	0.143000	0.21401	-1.876000	0.01633	-0.782000	0.04541	-0.339000	0.08088	GCG	.		0.642	ERCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459542.1	NM_001983	
VASP	7408	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	46024603	46024603	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:46024603G>A	ENST00000245932.6	+	4	723	c.367G>A	c.(367-369)Gca>Aca	p.A123T	VASP_ENST00000586619.1_Intron	NM_003370.3	NP_003361.1	P50552	VASP_HUMAN	vasodilator-stimulated phosphoprotein	123	Pro-rich.				actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|neural tube closure (GO:0001843)|positive regulation of actin filament polymerization (GO:0030838)|protein homotetramerization (GO:0051289)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	profilin binding (GO:0005522)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)	18		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0145)|GBM - Glioblastoma multiforme(486;0.154)		TCCACCCCCAGCACTTCCCAC	0.657																																					p.A123T		.											.	VASP-514	0			c.G367A						.						44.0	34.0	37.0					19																	46024603		2193	4288	6481	SO:0001583	missense	7408	exon4			CCCCCAGCACTTC		CCDS33051.1	19q13.32	2012-02-22			ENSG00000125753	ENSG00000125753			12652	protein-coding gene	gene with protein product		601703				8812448	Standard	XM_005259199		Approved		uc002pcg.3	P50552		ENST00000245932.6:c.367G>A	19.37:g.46024603G>A	ENSP00000245932:p.Ala123Thr	77	0		60	32	NM_003370	0	0	34	53	19	B2RBT9|Q6PIZ1|Q93035	Missense_Mutation	SNP	ENST00000245932.6	37	CCDS33051.1	.	.	.	.	.	.	.	.	.	.	G	12.13	1.847037	0.32606	.	.	ENSG00000125753	ENST00000245932	T	0.71698	-0.59	3.74	2.7	0.31948	.	0.602245	0.14515	N	0.314824	T	0.50257	0.1605	N	0.22421	0.69	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.26985	-1.0087	10	0.13108	T	0.6	-4.9463	7.2139	0.25949	0.121:0.0:0.879:0.0	.	123	P50552	VASP_HUMAN	T	123	ENSP00000245932:A123T	ENSP00000245932:A123T	A	+	1	0	VASP	50716443	0.081000	0.21417	0.009000	0.14445	0.085000	0.17905	1.709000	0.37909	1.149000	0.42402	0.655000	0.94253	GCA	.		0.657	VASP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459589.1		
ZC3H4	23211	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	47572589	47572589	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:47572589G>A	ENST00000253048.5	-	14	2195	c.2158C>T	c.(2158-2160)Cac>Tac	p.H720Y	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	720							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		TCTTCGTAGTGCCCGTAGTCC	0.667																																					p.H720Y		.											.	ZC3H4-74	0			c.C2158T						.						21.0	27.0	25.0					19																	47572589		1969	4140	6109	SO:0001583	missense	23211	exon14			CGTAGTGCCCGTA	AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"""Zinc fingers, CCCH-type domain containing"""	17808	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 7"""	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.2158C>T	19.37:g.47572589G>A	ENSP00000253048:p.His720Tyr	45	0		51	18	NM_015168	0	0	0	0	0	Q9Y420	Missense_Mutation	SNP	ENST00000253048.5	37	CCDS42582.1	.	.	.	.	.	.	.	.	.	.	G	6.675	0.493097	0.12702	.	.	ENSG00000130749	ENST00000253048	T	0.18338	2.22	5.47	5.47	0.80525	.	0.365106	0.24463	N	0.038315	T	0.12944	0.0314	L	0.36672	1.1	0.27488	N	0.952382	P	0.51537	0.946	B	0.40329	0.326	T	0.17410	-1.0370	10	0.30854	T	0.27	.	9.5161	0.39106	0.0:0.1534:0.6881:0.1586	.	720	Q9UPT8	ZC3H4_HUMAN	Y	720	ENSP00000253048:H720Y	ENSP00000253048:H720Y	H	-	1	0	ZC3H4	52264429	0.982000	0.34865	1.000000	0.80357	0.997000	0.91878	1.906000	0.39887	2.566000	0.86566	0.585000	0.79938	CAC	.		0.667	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1		
DHX34	9704	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	47876940	47876940	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:47876940C>T	ENST00000328771.4	+	9	2396	c.2047C>T	c.(2047-2049)Ctt>Ttt	p.L683F		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	683					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	membrane (GO:0016020)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		AATGGCCAACCTTCGGCGCCA	0.612																																					p.L683F		.											.	DHX34-231	0			c.C2047T						.						65.0	52.0	57.0					19																	47876940		2203	4300	6503	SO:0001583	missense	9704	exon9			GCCAACCTTCGGC	D50924	CCDS12700.1	19q13.3	2003-06-13	2003-06-13	2003-06-13	ENSG00000134815	ENSG00000134815		"""DEAH-boxes"""	16719	protein-coding gene	gene with protein product		615475	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34"""	DDX34		10708517, 8590280	Standard	NM_014681		Approved	KIAA0134	uc010xyn.2	Q14147	OTTHUMG00000149959	ENST00000328771.4:c.2047C>T	19.37:g.47876940C>T	ENSP00000331907:p.Leu683Phe	80	0		134	44	NM_014681	0	0	4	7	3	B4DMY8	Missense_Mutation	SNP	ENST00000328771.4	37	CCDS12700.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.280189	0.80692	.	.	ENSG00000134815	ENST00000328771	T	0.03580	3.88	5.01	3.96	0.45880	.	0.268702	0.25372	N	0.031148	T	0.15003	0.0362	M	0.62088	1.915	0.53688	D	0.999974	D	0.89917	1.0	D	0.74348	0.983	T	0.00420	-1.1750	10	0.87932	D	0	-14.3887	14.356	0.66738	0.0:0.8504:0.1496:0.0	.	683	Q14147	DHX34_HUMAN	F	683	ENSP00000331907:L683F	ENSP00000331907:L683F	L	+	1	0	DHX34	52568740	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.177000	0.50871	1.092000	0.41356	0.561000	0.74099	CTT	.		0.612	DHX34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314313.3	NM_014681	
KDELR1	10945	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	48894556	48894556	+	Silent	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:48894556C>T	ENST00000330720.2	-	1	254	c.60G>A	c.(58-60)ctG>ctA	p.L20L	KDELR1_ENST00000597017.1_5'Flank	NM_006801.2	NP_006792.1	P24390	ERD21_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 1	20					intracellular protein transport (GO:0006886)|protein retention in ER lumen (GO:0006621)|vesicle-mediated transport (GO:0016192)	cis-Golgi network (GO:0005801)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	KDEL sequence binding (GO:0005046)			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|pancreas(1)|urinary_tract(1)	11		all_epithelial(76;2.48e-06)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Prostate(7;0.122)|Breast(70;0.203)		all cancers(93;0.000114)|OV - Ovarian serous cystadenocarcinoma(262;0.000136)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.0145)		AGATTTTGAGCAGTAGCAAGA	0.647											OREG0025606	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.L20L		.											.	KDELR1-90	0			c.G60A						.						34.0	33.0	33.0					19																	48894556		2187	4274	6461	SO:0001819	synonymous_variant	10945	exon1			TTTGAGCAGTAGC	X55885	CCDS12718.1	19q13.3	2008-05-02				ENSG00000105438			6304	protein-coding gene	gene with protein product		131235				2172835	Standard	NM_006801		Approved	ERD2.1, ERD2, HDEL	uc002pjb.1	P24390		ENST00000330720.2:c.60G>A	19.37:g.48894556C>T		63	0	958	85	41	NM_006801	0	0	440	816	376	B2R6N4|Q54A39|Q8NBW7	Silent	SNP	ENST00000330720.2	37	CCDS12718.1																																																																																			.		0.647	KDELR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465708.1		
LMTK3	114783	hgsc.bcm.edu	37	19	49002214	49002214	+	Silent	SNP	G	G	A	rs368551469		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:49002214G>A	ENST00000600059.1	-	11	2339	c.2112C>T	c.(2110-2112)ccC>ccT	p.P704P	LMTK3_ENST00000270238.3_Silent_p.P733P			Q96Q04	LMTK3_HUMAN	lemur tyrosine kinase 3	704	Pro-rich.				negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		AGTCGTCCTCGGGGGGGTGGG	0.756													G|||	1	0.000199681	0.0	0.0	5008	,	,		6402	0.0		0.0	False		,,,				2504	0.001				p.P733P		.											.	LMTK3-1357	0			c.C2199T						.	G		1,1897		0,1,948	1.0	1.0	1.0		2199	-6.2	0.1	19		1	4,4696		0,4,2346	no	coding-synonymous	LMTK3	NM_001080434.1		0,5,3294	AA,AG,GG		0.0851,0.0527,0.0758		733/1490	49002214	5,6593	949	2350	3299	SO:0001819	synonymous_variant	114783	exon12			GTCCTCGGGGGGG	AB067470	CCDS46136.1	19q13.33	2014-06-12				ENSG00000142235			19295	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 101"""						Standard	NM_001080434		Approved	KIAA1883, LMR3, TYKLM3, PPP1R101	uc002pjk.3	Q96Q04		ENST00000600059.1:c.2112C>T	19.37:g.49002214G>A		3	0		13	7	NM_001080434	0	0	0	1	1	Q4G0U1	Silent	SNP	ENST00000600059.1	37																																																																																				.		0.756	LMTK3-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000466137.1	NM_052895	
NTN5	126147	hgsc.bcm.edu	37	19	49164952	49164952	+	Silent	SNP	A	A	G	rs281392	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:49164952A>G	ENST00000270235.4	-	7	1547	c.1452T>C	c.(1450-1452)agT>agC	p.S484S	SEC1P_ENST00000430145.2_RNA	NM_145807.1	NP_665806.1	Q8WTR8	NET5_HUMAN	netrin 5	484						extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	10						CCGGCCTGGGACTGGGTGTGG	0.687													G|||	2669	0.532947	0.351	0.4669	5008	,	,		9559	0.5625		0.6421	False		,,,				2504	0.683				p.S484S		.											.	NTN5-136	0			c.T1452C						.	G		1663,2349		390,883,733	9.0	9.0	9.0		1452	2.2	0.0	19	dbSNP_79	9	5217,2785		1816,1585,600	no	coding-synonymous	NTN5	NM_145807.1		2206,2468,1333	GG,GA,AA		34.8038,41.4506,42.7335		484/490	49164952	6880,5134	2006	4001	6007	SO:0001819	synonymous_variant	126147	exon7			CCTGGGACTGGGT		CCDS33068.1	19q13.33	2013-03-01			ENSG00000142233	ENSG00000142233		"""Netrins"""	25208	protein-coding gene	gene with protein product	"""Netrin-5"""					12477932	Standard	NM_145807		Approved		uc002pkb.3	Q8WTR8		ENST00000270235.4:c.1452T>C	19.37:g.49164952A>G		0	0		10	6	NM_145807	0	0	0	0	0	Q8N4X9|Q8WU63	Silent	SNP	ENST00000270235.4	37	CCDS33068.1																																																																																			A|0.464;G|0.536		0.687	NTN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466176.1	NM_145807	
FGF21	26291	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	19	49261316	49261316	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:49261316G>A	ENST00000593756.1	+	4	1041	c.469G>A	c.(469-471)Gca>Aca	p.A157T	FGF21_ENST00000222157.3_Missense_Mutation_p.A157T|FUT1_ENST00000310160.3_5'Flank			Q9NSA1	FGF21_HUMAN	fibroblast growth factor 21	157					cell-cell signaling (GO:0007267)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glucose import (GO:0046326)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|regulation of low-density lipoprotein particle clearance (GO:0010988)|signal transduction (GO:0007165)	extracellular region (GO:0005576)				breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		CCGGGACCCTGCACCCCGAGG	0.687																																					p.A157T		.											.	FGF21-522	0			c.G469A						.						29.0	36.0	34.0					19																	49261316		2202	4298	6500	SO:0001583	missense	26291	exon3			GACCCTGCACCCC	AB021975	CCDS12734.1	19q13.33	2012-09-20			ENSG00000105550	ENSG00000105550			3678	protein-coding gene	gene with protein product		609436				10858549	Standard	XM_005258731		Approved		uc002pko.1	Q9NSA1		ENST00000593756.1:c.469G>A	19.37:g.49261316G>A	ENSP00000471477:p.Ala157Thr	114	0		174	62	NM_019113	0	0	0	1	1	Q8N683	Missense_Mutation	SNP	ENST00000593756.1	37	CCDS12734.1	.	.	.	.	.	.	.	.	.	.	G	10.46	1.356689	0.24598	.	.	ENSG00000105550	ENST00000222157	D	0.84442	-1.85	3.91	-2.85	0.05734	.	0.822337	0.10608	N	0.654797	T	0.70988	0.3287	L	0.36672	1.1	0.09310	N	1	B	0.14805	0.011	B	0.13407	0.009	T	0.54997	-0.8209	10	0.33940	T	0.23	-23.0536	0.7356	0.00965	0.1964:0.1483:0.3158:0.3395	.	157	Q9NSA1	FGF21_HUMAN	T	157	ENSP00000222157:A157T	ENSP00000222157:A157T	A	+	1	0	FGF21	53953128	0.013000	0.17824	0.000000	0.03702	0.001000	0.01503	0.239000	0.18023	-0.358000	0.08162	-0.535000	0.04281	GCA	.		0.687	FGF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466200.1		
RUVBL2	10856	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	49507564	49507564	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:49507564G>A	ENST00000595090.1	+	4	618	c.154G>A	c.(154-156)Gca>Aca	p.A52T	RUVBL2_ENST00000413176.2_Missense_Mutation_p.A7T|RUVBL2_ENST00000601968.1_Missense_Mutation_p.A7T	NM_006666.1	NP_006657.1	Q9Y230	RUVB2_HUMAN	RuvB-like AAA ATPase 2	52					ATP catabolic process (GO:0006200)|cellular response to estradiol stimulus (GO:0071392)|cellular response to UV (GO:0034644)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|establishment of protein localization to chromatin (GO:0071169)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of estrogen receptor binding (GO:0071899)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein folding (GO:0006457)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)|transcriptional activation by promoter-enhancer looping (GO:0071733)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Ino80 complex (GO:0031011)|intracellular (GO:0005622)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|NuA4 histone acetyltransferase complex (GO:0035267)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent DNA helicase activity (GO:0004003)|chromatin DNA binding (GO:0031490)|damaged DNA binding (GO:0003684)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|unfolded protein binding (GO:0051082)			large_intestine(1)|upper_aerodigestive_tract(1)	2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		TCAGCTGGCGGCACGGCGGGC	0.642																																					p.A52T		.											.	RUVBL2-227	0			c.G154A						.						39.0	46.0	44.0					19																	49507564		1971	4124	6095	SO:0001583	missense	10856	exon4			CTGGCGGCACGGC	AF155138	CCDS42588.1	19q13.3	2013-09-12	2013-09-12					"""INO80 complex subunits"", ""ATPases / AAA-type"""	10475	protein-coding gene	gene with protein product	"""reptin"", ""INO80 complex subunit J"""	604788	"""RuvB (E coli homolog)-like 2"", ""RuvB-like 2 (E. coli)"""			10428817, 10998447	Standard	XM_005258426		Approved	RVB2, TIP48, TIP49b, Reptin52, ECP51, TIH2, INO80J, Rvb2	uc002plr.1	Q9Y230		ENST00000595090.1:c.154G>A	19.37:g.49507564G>A	ENSP00000473172:p.Ala52Thr	120	1		163	81	NM_006666	1	0	35	71	35	B3KQ59|E7ETE5|Q6FIB9|Q6PK27|Q9Y361	Missense_Mutation	SNP	ENST00000595090.1	37	CCDS42588.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.023114	0.93462	.	.	ENSG00000183207	ENST00000221413;ENST00000413176	T;T	0.64803	0.09;-0.12	4.74	4.74	0.60224	TIP49, C-terminal (1);	0.057166	0.64402	D	0.000001	D	0.85818	0.5785	H	0.97540	4.025	0.54753	D	0.999982	D;P;D	0.89917	1.0;0.933;0.995	D;P;D	0.71414	0.973;0.885;0.92	D	0.90971	0.4820	10	0.87932	D	0	-41.8002	15.594	0.76562	0.0:0.0:1.0:0.0	.	52;52;18	B4DW30;Q9Y230;B3KNL2	.;RUVB2_HUMAN;.	T	52;7	ENSP00000221413:A52T;ENSP00000413890:A7T	ENSP00000221413:A52T	A	+	1	0	RUVBL2	54199376	1.000000	0.71417	0.976000	0.42696	0.871000	0.50021	4.019000	0.57181	2.366000	0.80165	0.561000	0.74099	GCA	.		0.642	RUVBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466235.1		
TEAD2	8463	hgsc.bcm.edu;bcgsc.ca	37	19	49850473	49850473	+	Frame_Shift_Del	DEL	G	G	-	rs568692724		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:49850473delG	ENST00000311227.2	-	9	973	c.883delC	c.(883-885)catfs	p.H295fs	TEAD2_ENST00000377214.4_Frame_Shift_Del_p.H298fs|TEAD2_ENST00000593945.1_Frame_Shift_Del_p.H299fs|TEAD2_ENST00000539846.1_Frame_Shift_Del_p.H167fs|TEAD2_ENST00000601519.1_Frame_Shift_Del_p.H298fs|TEAD2_ENST00000598397.1_5'Flank|TEAD2_ENST00000598810.1_Frame_Shift_Del_p.H299fs	NM_001256659.1|NM_003598.1	NP_001243588.1|NP_003589.1	Q15562	TEAD2_HUMAN	TEA domain family member 2	295	Transcriptional activation. {ECO:0000255}.				gene expression (GO:0010467)|hippo signaling (GO:0035329)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H295fs*12(1)		central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		AAGAAGGCATGGGGGGGGCCA	0.567																																					p.H299fs		.											.	TEAD2-92	1	Deletion - Frameshift(1)	ovary(1)	c.895delC						.						127.0	140.0	135.0					19																	49850473		2203	4300	6503	SO:0001589	frameshift_variant	8463	exon10			AGGCATGGGGGGG	X94440	CCDS12761.1, CCDS58670.1, CCDS58671.1, CCDS59406.1	19q13.3	2008-07-22							11715	protein-coding gene	gene with protein product		601729				9889009, 8702974	Standard	NM_003598		Approved	TEF-4, ETF, TEF4	uc031rls.1	Q15562		ENST00000311227.2:c.883delC	19.37:g.49850473delG	ENSP00000310701:p.His295fs	63	3		79	36	NM_001256660	0	0	0	0	0	B4DTJ6|M0R1T9|Q8NA25|Q96IG3	Frame_Shift_Del	DEL	ENST00000311227.2	37	CCDS12761.1																																																																																			.		0.567	TEAD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465465.1	NM_003598	
FCGRT	2217	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	19	50017380	50017380	+	Frame_Shift_Del	DEL	G	G	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:50017380delG	ENST00000221466.5	+	3	801	c.315delG	c.(313-315)ttgfs	p.L105fs	FCGRT_ENST00000596975.1_Frame_Shift_Del_p.L105fs|FCGRT_ENST00000426395.3_Frame_Shift_Del_p.L105fs|FCGRT_ENST00000599988.1_Intron|FCGRT_ENST00000594823.1_3'UTR	NM_001136019.2	NP_001129491.1	P55899	FCGRN_HUMAN	Fc fragment of IgG, receptor, transporter, alpha	105	Alpha-1.				antigen processing and presentation (GO:0019882)|IgG immunoglobulin transcytosis in epithelial cells mediated by FcRn immunoglobulin receptor (GO:0002416)|immune response (GO:0006955)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	IgG binding (GO:0019864)			endometrium(3)|kidney(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	9		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156)		TCAAAGCTTTGGGGGGAAAAG	0.577																																					p.L105fs		.											.	FCGRT-91	0			c.315delG						.						25.0	30.0	28.0					19																	50017380		2203	4299	6502	SO:0001589	frameshift_variant	2217	exon3			AGCTTTGGGGGGA	U12255	CCDS12770.1	19q13.3	2013-01-11				ENSG00000104870		"""Immunoglobulin superfamily / C1-set domain containing"""	3621	protein-coding gene	gene with protein product		601437				7964511, 8646894	Standard	NM_001136019		Approved	FCRN, alpha-chain	uc002pog.2	P55899		ENST00000221466.5:c.315delG	19.37:g.50017380delG	ENSP00000221466:p.Leu105fs	50	0		44	21	NM_001136019	0	0	0	0	0	Q5HYM5|Q9HBV7|Q9NZ19	Frame_Shift_Del	DEL	ENST00000221466.5	37	CCDS12770.1																																																																																			.		0.577	FCGRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465267.1		
PRR12	57479	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	19	50100497	50100497	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:50100497G>A	ENST00000418929.2	+	4	2917	c.2905G>A	c.(2905-2907)Gag>Aag	p.E969K		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0							DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CGGGCCACCTGAGGACGAGGG	0.697																																					p.E969K		.											.	PRR12-70	0			c.G2905A						.						5.0	6.0	6.0					19																	50100497		1902	4039	5941	SO:0001583	missense	57479	exon4			CCACCTGAGGACG	AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"""KIAA1205"""	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.2905G>A	19.37:g.50100497G>A	ENSP00000394510:p.Glu969Lys	20	0		59	24	NM_020719	0	0	11	17	6	E9PB06|Q8N4J6	Missense_Mutation	SNP	ENST00000418929.2	37	CCDS46143.1	.	.	.	.	.	.	.	.	.	.	G	6.550	0.469803	0.12461	.	.	ENSG00000126464	ENST00000418929;ENST00000246798;ENST00000314734	T	0.17054	2.3	4.79	4.79	0.61399	.	0.000000	0.44483	D	0.000441	T	0.13756	0.0333	L	0.38175	1.15	0.21915	N	0.999478	B	0.10296	0.003	B	0.09377	0.004	T	0.11348	-1.0591	10	0.72032	D	0.01	-27.9771	8.8873	0.35411	0.1003:0.0:0.8997:0.0	.	969	Q9ULL5-3	.	K	969;149;149	ENSP00000394510:E969K	ENSP00000246798:E149K	E	+	1	0	PRR12	54792309	1.000000	0.71417	0.698000	0.30274	0.141000	0.21300	8.061000	0.89467	2.476000	0.83614	0.491000	0.48974	GAG	.		0.697	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	NM_020719	
TSKS	60385	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	50245268	50245268	+	Silent	SNP	C	C	T	rs201242813		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:50245268C>T	ENST00000246801.3	-	9	1453	c.1371G>A	c.(1369-1371)tcG>tcA	p.S457S	TSKS_ENST00000358830.3_Silent_p.S257S	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	457					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		TAGACAACTGCGACCCCTGGC	0.637																																					p.S457S		.											.	TSKS-154	0			c.G1371A						.						55.0	49.0	51.0					19																	50245268		2203	4300	6503	SO:0001819	synonymous_variant	60385	exon9			CAACTGCGACCCC	BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 161"""	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.1371G>A	19.37:g.50245268C>T		75	0		75	33	NM_021733	0	0	0	0	0	Q8WXJ0	Silent	SNP	ENST00000246801.3	37	CCDS12780.1																																																																																			C|0.999;A|0.000		0.637	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465795.1	NM_021733	
VRK3	51231	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	50498494	50498494	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:50498494C>T	ENST00000599538.1	-	8	1382	c.718G>A	c.(718-720)Gcc>Acc	p.A240T	VRK3_ENST00000594092.1_Missense_Mutation_p.A240T|VRK3_ENST00000424804.2_5'UTR|VRK3_ENST00000594948.1_Missense_Mutation_p.A240T|VRK3_ENST00000601341.1_Missense_Mutation_p.A190T|VRK3_ENST00000316763.3_Missense_Mutation_p.A240T|VRK3_ENST00000377011.2_Missense_Mutation_p.A190T|VRK3_ENST00000601912.1_Missense_Mutation_p.A190T|VRK3_ENST00000593919.1_Missense_Mutation_p.A240T|VRK3_ENST00000443401.2_Intron			Q8IV63	VRK3_HUMAN	vaccinia related kinase 3	240	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		GTAGGGATGGCCAGCAGTGGG	0.562																																					p.A240T	Pancreas(6;90 181 4352 12603 17050 34726 35237 44094)	.											.	VRK3-359	0			c.G718A						.						126.0	94.0	105.0					19																	50498494		2203	4300	6503	SO:0001583	missense	51231	exon8			GGATGGCCAGCAG	AB031052	CCDS12791.1, CCDS33076.1	19q13.33	2011-01-14			ENSG00000105053	ENSG00000105053			18996	protein-coding gene	gene with protein product							Standard	XM_005258971		Approved		uc002prh.1	Q8IV63		ENST00000599538.1:c.718G>A	19.37:g.50498494C>T	ENSP00000469880:p.Ala240Thr	156	0		229	96	NM_016440	0	0	23	39	16	A6NEG5|A8KA53|Q502Y2|Q9P2V8	Missense_Mutation	SNP	ENST00000599538.1	37	CCDS12791.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.30|18.30	3.594628|3.594628	0.66219|0.66219	.|.	.|.	ENSG00000105053|ENSG00000105053	ENST00000316763;ENST00000377011|ENST00000424804	T;T|.	0.19532|.	2.14;2.14|.	5.19|5.19	5.19|5.19	0.71726|0.71726	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.051490|.	0.85682|.	D|.	0.000000|.	T|.	0.66607|.	0.2806|.	L|L	0.49350|0.49350	1.555|1.555	0.80722|0.80722	A|A	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.79784|.	0.988;0.989;0.993|.	T|.	0.72074|.	-0.4400|.	9|.	0.72032|0.87932	D|D	0.01|0	-29.9162|-29.9162	16.6218|16.6218	0.84932|0.84932	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	240;190;240|.	Q8IV63-2;A6NEG5;Q8IV63|.	.;.;VRK3_HUMAN|.	T|X	240;190|217	ENSP00000324636:A240T;ENSP00000366210:A190T|.	ENSP00000324636:A240T|ENSP00000402958:W217X	A|W	-|-	1|3	0|0	VRK3|VRK3	55190306|55190306	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.182000|0.182000	0.23217|0.23217	3.816000|3.816000	0.55658|0.55658	2.873000|2.873000	0.98535|0.98535	0.563000|0.563000	0.77884|0.77884	GCC|TGG	.		0.562	VRK3-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464815.1	NM_016440	
POLD1	5424	hgsc.bcm.edu;bcgsc.ca	37	19	50918843	50918844	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	GA	GA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:50918843_50918844delGA	ENST00000440232.2	+	21	2766_2767	c.2713_2714delGA	c.(2713-2715)gagfs	p.E905fs	POLD1_ENST00000599857.1_Frame_Shift_Del_p.E905fs|CTD-2545M3.6_ENST00000599632.1_5'Flank|POLD1_ENST00000595904.1_Frame_Shift_Del_p.E931fs	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	905					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|fatty acid homeostasis (GO:0055089)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)|response to UV (GO:0009411)|small molecule metabolic process (GO:0044281)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|delta DNA polymerase complex (GO:0043625)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		GGAGCTGGCCGAGAGGTCCTGC	0.688								DNA polymerases (catalytic subunits)																													p.905_905del		.											.	POLD1-840	0			c.2713_2714del						.																																			SO:0001589	frameshift_variant	5424	exon21			CTGGCCGAGAGGT		CCDS12795.1	19q13.3	2014-09-17	2012-05-18		ENSG00000062822	ENSG00000062822		"""DNA polymerases"""	9175	protein-coding gene	gene with protein product	"""CDC2 homolog (S. cerevisiae)"""	174761	"""polymerase (DNA directed), delta 1, catalytic subunit (125kD)"""	POLD		1722322	Standard	NM_001256849		Approved	CDC2	uc002psc.5	P28340		ENST00000440232.2:c.2713_2714delGA	19.37:g.50918845_50918846delGA	ENSP00000406046:p.Glu905fs	67	1		246	100	NM_002691	0	0	0	0	0	Q8NER3|Q96H98	Frame_Shift_Del	DEL	ENST00000440232.2	37	CCDS12795.1																																																																																			.		0.688	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464732.1		
ASPDH	554235	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	19	51015773	51015773	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:51015773G>A	ENST00000389208.4	-	5	558	c.497C>T	c.(496-498)gCc>gTc	p.A166V	JOSD2_ENST00000595669.1_5'Flank|JOSD2_ENST00000601423.1_5'Flank|ASPDH_ENST00000376916.3_Missense_Mutation_p.A61V|ASPDH_ENST00000597030.1_5'UTR|JOSD2_ENST00000598418.1_5'Flank|JOSD2_ENST00000391815.3_5'Flank	NM_001114598.1	NP_001108070.1	A6ND91	ASPD_HUMAN	aspartate dehydrogenase domain containing	166					NAD biosynthetic process (GO:0009435)|NADP catabolic process (GO:0006742)		aspartate dehydrogenase activity (GO:0033735)|NADP binding (GO:0050661)			endometrium(1)|large_intestine(1)|lung(1)	3						AGGGCTGTGGGCTGCAGCCAG	0.667																																					p.A166V		.											.	ASPDH-90	0			c.C497T						.						16.0	22.0	20.0					19																	51015773		2201	4299	6500	SO:0001583	missense	554235	exon5			CTGTGGGCTGCAG		CCDS33082.1, CCDS46153.1	19q13.33	2012-10-02			ENSG00000204653	ENSG00000204653			33856	protein-coding gene	gene with protein product							Standard	NM_001024656		Approved		uc010enz.3	A6ND91		ENST00000389208.4:c.497C>T	19.37:g.51015773G>A	ENSP00000373860:p.Ala166Val	13	0		28	10	NM_001114598	0	0	0	1	1	Q6NZ37	Missense_Mutation	SNP	ENST00000389208.4	37	CCDS46153.1	.	.	.	.	.	.	.	.	.	.	G	10.09	1.254707	0.22965	.	.	ENSG00000204653	ENST00000376916;ENST00000389208	T;T	0.44083	0.93;0.94	3.9	0.0361	0.14190	.	0.564647	0.17212	N	0.182676	T	0.18923	0.0454	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.001;0.003	T	0.18023	-1.0350	10	0.27082	T	0.32	-1.0054	7.6994	0.28613	0.3024:0.0:0.6976:0.0	.	166;61	A6ND91;A6ND91-2	ASPD_HUMAN;.	V	61;166	ENSP00000366114:A61V;ENSP00000373860:A166V	ENSP00000366114:A61V	A	-	2	0	ASPDH	55707585	0.000000	0.05858	0.033000	0.17914	0.927000	0.56198	-0.343000	0.07791	0.117000	0.18138	0.561000	0.74099	GCC	.		0.667	ASPDH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464861.1	NM_001024656	
SHANK1	50944	hgsc.bcm.edu	37	19	51171188	51171188	+	Silent	SNP	G	G	A	rs750578	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:51171188G>A	ENST00000293441.1	-	22	4047	c.4029C>T	c.(4027-4029)acC>acT	p.T1343T	SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000391813.1_Silent_p.T730T|SHANK1_ENST00000359082.3_Silent_p.T1334T|SHANK1_ENST00000391814.1_Silent_p.T1351T	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	1343					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GGGCCTTGCCGGTCAGCGGGT	0.786													g|||	1533	0.30611	0.0484	0.5576	5008	,	,		7768	0.3185		0.4364	False		,,,				2504	0.3292				p.T1343T		.											.	SHANK1-153	0			c.C4029T						.			167,1995		14,139,928	2.0	2.0	2.0		4029	1.5	1.0	19	dbSNP_86	2	1560,3624		219,1122,1251	no	coding-synonymous	SHANK1	NM_016148.2		233,1261,2179	AA,AG,GG		30.0926,7.7243,23.5094		1343/2162	51171188	1727,5619	1081	2592	3673	SO:0001819	synonymous_variant	50944	exon22			CTTGCCGGTCAGC	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.4029C>T	19.37:g.51171188G>A		0	0		4	4	NM_016148	0	0	0	0	0	A8MXP5|B7WNY6|Q9NYW9	Silent	SNP	ENST00000293441.1	37	CCDS12799.1																																																																																			G|0.661;A|0.339		0.786	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148	
SIGLEC9	27180	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	51630290	51630290	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:51630290C>T	ENST00000250360.3	+	4	819	c.752C>T	c.(751-753)tCc>tTc	p.S251F	SIGLEC9_ENST00000440804.3_Missense_Mutation_p.S251F	NM_014441.2	NP_055256.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	251	Ig-like C2-type 2.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		tctACAGTATCCACAGTCTTG	0.498																																					p.S251F		.											.	SIGLEC9-91	0			c.C752T						.						78.0	79.0	78.0					19																	51630290		2203	4300	6503	SO:0001583	missense	27180	exon4			CAGTATCCACAGT	AF135027	CCDS12825.1, CCDS56100.1	19q13.3-q13.4	2013-01-29			ENSG00000129450	ENSG00000129450		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10878	protein-coding gene	gene with protein product		605640				10903842	Standard	NM_014441		Approved	CD329	uc002pvu.3	Q9Y336		ENST00000250360.3:c.752C>T	19.37:g.51630290C>T	ENSP00000250360:p.Ser251Phe	62	0		63	21	NM_001198558	0	0	0	0	0	Q6GTU4|Q9BYI9	Missense_Mutation	SNP	ENST00000250360.3	37	CCDS12825.1	.	.	.	.	.	.	.	.	.	.	.	0.037	-1.303821	0.01353	.	.	ENSG00000129450	ENST00000440804;ENST00000250360	T;T	0.13901	2.55;2.76	2.38	1.33	0.21861	Immunoglobulin-like (1);	1.186210	0.06573	N	0.748994	T	0.15912	0.0383	M	0.72479	2.2	0.09310	N	1	B	0.15141	0.012	B	0.13407	0.009	T	0.33394	-0.9870	10	0.37606	T	0.19	.	4.3688	0.11237	0.0:0.8008:0.0:0.1992	.	251	Q9Y336	SIGL9_HUMAN	F	251	ENSP00000413861:S251F;ENSP00000250360:S251F	ENSP00000250360:S251F	S	+	2	0	SIGLEC9	56322102	0.000000	0.05858	0.027000	0.17364	0.034000	0.12701	-0.240000	0.08952	1.354000	0.45846	0.407000	0.27541	TCC	.		0.498	SIGLEC9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464224.1	NM_014441	
SIGLEC12	89858	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	52003397	52003397	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:52003397G>A	ENST00000291707.3	-	2	640	c.585C>T	c.(583-585)gcC>gcT	p.A195A	SIGLEC12_ENST00000598614.1_Silent_p.A77A	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	195	Ig-like V-type 2.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		ATGGTATATCGGCCCCTTCCT	0.542																																					p.A195A		.											.	SIGLEC12-96	0			c.C585T						.						147.0	131.0	136.0					19																	52003397		2203	4300	6503	SO:0001819	synonymous_variant	89858	exon2			TATATCGGCCCCT	AF282256	CCDS12833.1, CCDS59416.1	19q13.41	2013-01-29	2011-06-29	2004-10-20	ENSG00000254521	ENSG00000254521		"""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"""	15482	protein-coding gene	gene with protein product		606094	"""SIGLEC-like 1"", ""sialic acid binding Ig-like lectin 12"""	SIGLECL1		11409877, 11328818, 21555517	Standard	NM_053003		Approved	SLG, S2V, Siglec-XII, Siglec-12, Siglec-L1	uc002pwx.1	Q96PQ1	OTTHUMG00000165524	ENST00000291707.3:c.585C>T	19.37:g.52003397G>A		286	0		320	120	NM_053003	0	0	0	0	0	Q8IYH7	Silent	SNP	ENST00000291707.3	37	CCDS12833.1																																																																																			.		0.542	SIGLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384641.2	NM_053003	
FPR3	2359	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	52327406	52327406	+	Silent	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:52327406C>T	ENST00000339223.4	+	2	584	c.405C>T	c.(403-405)aaC>aaT	p.N135N	FPR3_ENST00000595991.1_Silent_p.N135N	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	135					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	N-formyl peptide receptor activity (GO:0004982)			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						GGGCCCAGAACCATCGCACCA	0.468																																					p.N135N		.											.	FPR3-501	0			c.C405T						.						86.0	72.0	77.0					19																	52327406		2203	4300	6503	SO:0001819	synonymous_variant	2359	exon2			CCAGAACCATCGC		CCDS12841.1	19q13.3-q13.4	2012-08-08	2008-04-17	2008-04-17		ENSG00000187474		"""GPCR / Class A : Formyl peptide receptors"""	3828	protein-coding gene	gene with protein product		136539	"""formyl peptide receptor-like 2"""	FPRL2		1612600, 8198572	Standard	NM_002030		Approved	FPRH1, FMLPY, RMLP-R-I	uc002pxt.1	P25089		ENST00000339223.4:c.405C>T	19.37:g.52327406C>T		216	0		255	91	NM_002030	0	0	1	1	0		Silent	SNP	ENST00000339223.4	37	CCDS12841.1																																																																																			.		0.468	FPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466914.1	NM_002030	
ZNF415	55786	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	53612773	53612773	+	Silent	SNP	A	A	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:53612773A>T	ENST00000500065.4	-	4	858	c.525T>A	c.(523-525)gtT>gtA	p.V175V	ZNF415_ENST00000601493.1_5'UTR|ZNF415_ENST00000455735.2_Silent_p.V223V|ZNF415_ENST00000448501.1_Silent_p.V223V|ZNF415_ENST00000243643.4_Silent_p.V175V|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000421033.1_Silent_p.V187V|ZNF415_ENST00000440291.1_Silent_p.V162V|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000594011.1_3'UTR	NM_001136038.2	NP_001129510.2	Q09FC8	ZN415_HUMAN	zinc finger protein 415	223					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		GGGGTGGTGAAACTGAGGAAC	0.383																																					p.V175V		.											.	ZNF415-91	0			c.T525A						.						113.0	109.0	110.0					19																	53612773		2203	4300	6503	SO:0001819	synonymous_variant	55786	exon4			TGGTGAAACTGAG	AK002053	CCDS12860.1, CCDS54313.1	19q13.42	2014-03-18			ENSG00000170954	ENSG00000170954		"""Zinc fingers, C2H2-type"", ""-"""	20636	protein-coding gene	gene with protein product						14702039	Standard	NM_001136038		Approved		uc002qaw.3	Q09FC8	OTTHUMG00000182865	ENST00000500065.4:c.525T>A	19.37:g.53612773A>T		97	0		108	45	NM_018355	0	0	24	27	3	F5H287|Q09FC7|Q09FC9|Q09FD0|Q6NSZ2|Q6P3S0|Q9NUR2	Silent	SNP	ENST00000500065.4	37	CCDS54313.1																																																																																			.		0.383	ZNF415-025	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464043.1	NM_018355	
ZNF331	55422	broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	54080878	54080878	+	Missense_Mutation	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:54080878A>G	ENST00000253144.9	+	7	2397	c.1064A>G	c.(1063-1065)tAc>tGc	p.Y355C	ZNF331_ENST00000513999.1_Missense_Mutation_p.Y355C|ZNF331_ENST00000449416.1_Missense_Mutation_p.Y355C|ZNF331_ENST00000511593.2_Missense_Mutation_p.Y355C|ZNF331_ENST00000411977.2_Missense_Mutation_p.Y355C|ZNF331_ENST00000513265.1_3'UTR|ZNF331_ENST00000511154.1_Missense_Mutation_p.Y355C|ZNF331_ENST00000512387.1_Missense_Mutation_p.Y355C	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	355					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		GAGAAGCCGTACAAGTGCACA	0.527			T	?	follicular thyroid adenoma																																p.Y355C		.		Dom	yes		19	19q13.3-q13.4	55422	zinc finger protein 331		E	.	ZNF331-663	0			c.A1064G						.						106.0	92.0	96.0					19																	54080878		2203	4300	6503	SO:0001583	missense	55422	exon5			AGCCGTACAAGTG	AF251515	CCDS33102.1	19q13	2013-12-10				ENSG00000130844		"""Zinc fingers, C2H2-type"", ""-"""	15489	protein-coding gene	gene with protein product	"""rearranged in thyroid adenomas"""	606043					Standard	NM_001079906		Approved	RITA, ZNF463, ZNF361	uc021uzh.1	Q9NQX6		ENST00000253144.9:c.1064A>G	19.37:g.54080878A>G	ENSP00000253144:p.Tyr355Cys	200	1		273	116	NM_001253801	0	0	15	15	0	Q96GJ4	Missense_Mutation	SNP	ENST00000253144.9	37	CCDS33102.1	.	.	.	.	.	.	.	.	.	.	A	11.95	1.792185	0.31685	.	.	ENSG00000130844	ENST00000253144;ENST00000511593;ENST00000449416;ENST00000411977;ENST00000511154;ENST00000513999;ENST00000512387	T;T;T;T;T;T;T	0.25414	1.8;1.8;1.8;1.8;1.8;1.8;1.8	4.08	4.08	0.47627	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.31976	N	0.006768	T	0.46054	0.1373	M	0.75615	2.305	0.09310	N	1	D	0.89917	1.0	D	0.85130	0.997	T	0.30909	-0.9962	10	0.87932	D	0	.	6.9742	0.24666	0.7961:0.0:0.0:0.2039	.	355	Q9NQX6	ZN331_HUMAN	C	355	ENSP00000253144:Y355C;ENSP00000427439:Y355C;ENSP00000393817:Y355C;ENSP00000393336:Y355C;ENSP00000421014:Y355C;ENSP00000423156:Y355C;ENSP00000421728:Y355C	ENSP00000253144:Y355C	Y	+	2	0	ZNF331	58772690	0.877000	0.30153	0.480000	0.27341	0.480000	0.33159	2.249000	0.43169	1.834000	0.53371	0.533000	0.62120	TAC	.		0.527	ZNF331-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371366.1	NM_018555	
NLRP12	91662	broad.mit.edu;bcgsc.ca;mdanderson.org	37	19	54312911	54312911	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:54312911C>T	ENST00000324134.6	-	3	2170	c.2002G>A	c.(2002-2004)Gcc>Acc	p.A668T	NLRP12_ENST00000345770.5_Missense_Mutation_p.A668T|NLRP12_ENST00000391772.1_Missense_Mutation_p.A668T|NLRP12_ENST00000354278.3_Missense_Mutation_p.A668T|NLRP12_ENST00000351894.4_Missense_Mutation_p.A668T|NLRP12_ENST00000391773.1_Missense_Mutation_p.A668T|NLRP12_ENST00000391775.3_Missense_Mutation_p.A668T|NLRP12_ENST00000535162.1_Missense_Mutation_p.A668T	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	668					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CTGTAGGTGGCGCCATACAAG	0.627																																					p.S668S		.											.	NLRP12-211	0			c.A2002A						.						43.0	40.0	41.0					19																	54312911		2203	4300	6503	SO:0001583	missense	91662	exon3			AGGTGGCGCCATA	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.2002G>A	19.37:g.54312911C>T	ENSP00000319377:p.Ala668Thr	94	2		98	36	NM_144687	0	0	0	0	0	A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Silent	SNP	ENST00000324134.6	37	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	C	5.749	0.322535	0.10900	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	T;T;T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66;0.66;0.66	3.86	1.66	0.24008	.	0.688712	0.11894	N	0.519358	T	0.29423	0.0733	L	0.38649	1.16	0.09310	N	0.999997	B;B;B;B	0.29037	0.123;0.123;0.231;0.152	B;B;B;B	0.17722	0.014;0.008;0.019;0.011	T	0.19031	-1.0318	10	0.11794	T	0.64	.	6.1485	0.20298	0.0:0.7449:0.0:0.2551	.	668;668;668;668	F2Z321;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	T	668	ENSP00000319377:A668T;ENSP00000438030:A668T;ENSP00000340473:A668T;ENSP00000346231:A668T;ENSP00000375655:A668T;ENSP00000375653:A668T;ENSP00000375652:A668T	ENSP00000319377:A668T	A	-	1	0	NLRP12	59004723	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	0.028000	0.13644	0.234000	0.21139	-0.344000	0.07964	GCC	.		0.627	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687	
CACNG7	59284	broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	54445384	54445384	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:54445384G>A	ENST00000391767.1	+	6	877	c.665G>A	c.(664-666)aGc>aAc	p.S222N	CACNG7_ENST00000222212.2_Missense_Mutation_p.S222N			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	222				GAGVMSVYLFTKRYAEEEMYRPHPAFYRPRLSDCSDYSGQF LQPEAWRRGRSPSDISSDVSIQMTQNYPPAIKYPDHLHIST SPC -> VTSVGPRL (in Ref. 1; AAK20030). {ECO:0000305}.	calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		CCGCGTCTCAGCGACTGCTCC	0.682																																					p.S222N		.											.	CACNG7-91	0			c.G665A						.						68.0	62.0	64.0					19																	54445384		2203	4300	6503	SO:0001583	missense	59284	exon5			GTCTCAGCGACTG	AF288387	CCDS12868.1	19q13.4	2008-05-02			ENSG00000105605	ENSG00000105605		"""Calcium channel subunits"""	13626	protein-coding gene	gene with protein product		606899				11170751	Standard	NM_031896		Approved		uc002qcr.2	P62955	OTTHUMG00000064852	ENST00000391767.1:c.665G>A	19.37:g.54445384G>A	ENSP00000375647:p.Ser222Asn	142	1		328	137	NM_031896	0	0	0	0	0	Q52LL8|Q8VBX3|Q8WXS6|Q9BXT1	Missense_Mutation	SNP	ENST00000391767.1	37	CCDS12868.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.844566	0.91197	.	.	ENSG00000105605	ENST00000391767;ENST00000222212	T;T	0.67171	-0.25;-0.25	4.18	4.18	0.49190	.	0.121117	0.53938	D	0.000048	T	0.69287	0.3094	L	0.29908	0.895	0.80722	D	1	D	0.76494	0.999	D	0.64506	0.926	T	0.67078	-0.5761	10	0.29301	T	0.29	-25.3974	14.3911	0.66978	0.0:0.0:1.0:0.0	.	222	P62955	CCG7_HUMAN	N	222	ENSP00000375647:S222N;ENSP00000222212:S222N	ENSP00000222212:S222N	S	+	2	0	CACNG7	59137196	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.326000	0.65875	2.072000	0.62099	0.491000	0.48974	AGC	.		0.682	CACNG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139240.2		
TFPT	29844	broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	54617860	54617860	+	Missense_Mutation	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:54617860A>G	ENST00000391759.1	-	2	649	c.244T>C	c.(244-246)Tac>Cac	p.Y82H	PRPF31_ENST00000321030.4_5'Flank|TFPT_ENST00000391758.1_Missense_Mutation_p.Y73H|TFPT_ENST00000391757.1_Missense_Mutation_p.Y82H|PRPF31_ENST00000419967.1_5'Flank	NM_013342.3	NP_037474.1	P0C1Z6	TFPT_HUMAN	TCF3 (E2A) fusion partner (in childhood Leukemia)	82					apoptotic signaling pathway (GO:0097190)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			large_intestine(2)|lung(2)	4	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)					AGTGCCTGGTACTTTCTGCGA	0.662			T	TCF3	pre-B ALL																																p.Y82H		.		Dom	yes		19	19q13	29844	TCF3 (E2A) fusion partner (in childhood Leukemia)		L	.	TFPT-658	0			c.T244C						.						45.0	52.0	50.0					19																	54617860		2203	4300	6503	SO:0001583	missense	29844	exon2			CCTGGTACTTTCT	AF052052	CCDS12878.1	19q13	2011-07-06			ENSG00000105619	ENSG00000105619		"""INO80 complex subunits"""	13630	protein-coding gene	gene with protein product	"""amida, partner of the E2A"", ""INO80 complex subunit F"""	609519				10644725, 16230350	Standard	NM_013342		Approved	FB1, amida, INO80F	uc010yej.1	P0C1Z6	OTTHUMG00000065906	ENST00000391759.1:c.244T>C	19.37:g.54617860A>G	ENSP00000375639:p.Tyr82His	89	1		153	66	NM_013342	0	0	28	64	36		Missense_Mutation	SNP	ENST00000391759.1	37	CCDS12878.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.607162	0.87157	.	.	ENSG00000105619	ENST00000391759;ENST00000391758;ENST00000391757	.	.	.	5.06	5.06	0.68205	.	0.079189	0.52532	D	0.000079	T	0.68155	0.2970	L	0.52573	1.65	0.46631	D	0.999131	D	0.71674	0.998	D	0.64877	0.93	T	0.68610	-0.5363	9	0.45353	T	0.12	-11.1972	14.1112	0.65121	1.0:0.0:0.0:0.0	.	82	P0C1Z6	TFPT_HUMAN	H	82;73;82	.	ENSP00000375637:Y82H	Y	-	1	0	TFPT	59309672	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.424000	0.52764	2.035000	0.60131	0.460000	0.39030	TAC	.		0.662	TFPT-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141215.4	NM_013342	
LENG9	94059	hgsc.bcm.edu	37	19	54974329	54974329	+	Frame_Shift_Del	DEL	G	G	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:54974329delG	ENST00000333834.4	-	1	565	c.447delC	c.(445-447)ttcfs	p.F150fs		NM_198988.1	NP_945339.2	Q96B70	LENG9_HUMAN	leukocyte receptor cluster (LRC) member 9	150							catalytic activity (GO:0003824)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)	11	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.134)		GGAAGCGGAAGAAGCGCACGC	0.731																																					p.F149fs		.											.	LENG9-68	0			c.447delC						.			2,4038		0,2,2018	6.0	7.0	7.0			3.8	1.0	19		7	36,7916		2,32,3942	no	frameshift	LENG9	NM_198988.1		2,34,5960	A1A1,A1R,RR		0.4527,0.0495,0.3169			54974329	38,11954	2097	4160	6257	SO:0001589	frameshift_variant	94059	exon1			GCGGAAGAAGCGC	AF211976		19q13.4	2014-05-06			ENSG00000182909	ENSG00000275183			16306	protein-coding gene	gene with protein product						10941842	Standard	NM_198988		Approved		uc010yez.2	Q96B70	OTTHUMG00000188273	ENST00000333834.4:c.447delC	19.37:g.54974329delG	ENSP00000331647:p.Phe150fs	1	0		48	21	NM_198988	0	0	0	0	0	B2VAM3	Frame_Shift_Del	DEL	ENST00000333834.4	37	CCDS12895.2																																																																																			.		0.731	LENG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140806.3	NM_198988	
NLRP2	55655	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	55494293	55494293	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:55494293G>A	ENST00000543010.1	+	6	1370	c.1227G>A	c.(1225-1227)aaG>aaA	p.K409K	NLRP2_ENST00000537859.1_Silent_p.K387K|NLRP2_ENST00000391721.4_Silent_p.K385K|NLRP2_ENST00000427260.2_Silent_p.K386K|NLRP2_ENST00000339757.7_Silent_p.K387K|NLRP2_ENST00000448584.2_Silent_p.K409K|NLRP2_ENST00000538819.1_Silent_p.K385K|NLRP2_ENST00000263437.6_Silent_p.K406K	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	409	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CGACTCTGAAGCTGCAGATGG	0.667																																					p.K409K		.											.	NLRP2-120	0			c.G1227A						.						32.0	31.0	31.0					19																	55494293		2202	4300	6502	SO:0001819	synonymous_variant	55655	exon6			TCTGAAGCTGCAG	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"""Nucleotide-binding domain and leucine rich repeat containing"""	22948	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"""	609364	"""NACHT, leucine rich repeat and PYD containing 2"""	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.1227G>A	19.37:g.55494293G>A		192	0		334	130	NM_017852	0	0	0	0	0	B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Silent	SNP	ENST00000543010.1	37	CCDS12913.1																																																																																			.		0.667	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852	
EPS8L1	54869	broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	55598758	55598758	+	Silent	SNP	G	G	T	rs184296169		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:55598758G>T	ENST00000201647.6	+	19	2096	c.2040G>T	c.(2038-2040)ggG>ggT	p.G680G	EPS8L1_ENST00000588359.1_Silent_p.G366G|EPS8L1_ENST00000245618.5_Silent_p.G553G|EPS8L1_ENST00000586329.1_Intron|EPS8L1_ENST00000540810.1_Silent_p.G616G	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	680					positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|T cell receptor binding (GO:0042608)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CCGAGGAGGGGGCACGTGTGT	0.697																																					p.G680G	Ovarian(149;255 1863 3636 27051 29647)	.											.	EPS8L1-115	0			c.G2040T						.						44.0	47.0	46.0					19																	55598758		2203	4299	6502	SO:0001819	synonymous_variant	54869	exon19			GGAGGGGGCACGT	AK057052	CCDS12914.1, CCDS12915.1	19q13.42	2008-02-05				ENSG00000131037			21295	protein-coding gene	gene with protein product		614987				12620401	Standard	NM_133180		Approved	FLJ20258, DRC3, MGC23164, MGC4642	uc002qis.4	Q8TE68		ENST00000201647.6:c.2040G>T	19.37:g.55598758G>T		65	1		140	66	NM_133180	0	0	2	9	7	Q71RE2|Q8NC10|Q96BB7|Q9BSQ2|Q9GZQ2|Q9NXH0	Silent	SNP	ENST00000201647.6	37	CCDS12914.1																																																																																			G|0.999;A|0.000		0.697	EPS8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451713.1	NM_017729	
TNNI3	7137	broad.mit.edu;bcgsc.ca;mdanderson.org	37	19	55667611	55667611	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:55667611G>A	ENST00000344887.5	-	5	382	c.240C>T	c.(238-240)tgC>tgT	p.C80C	TNNI3_ENST00000590463.1_5'UTR|TNNI3_ENST00000588882.1_Silent_p.C55C|CTD-2587H24.4_ENST00000587871.1_3'UTR|CTD-2587H24.5_ENST00000591665.1_RNA|DNAAF3_ENST00000587789.2_5'Flank	NM_000363.4	NP_000354.4	P19429	TNNI3_HUMAN	troponin I type 3 (cardiac)	80		Involved in TNI-TNT interactions.			cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|heart contraction (GO:0060047)|heart development (GO:0007507)|muscle filament sliding (GO:0030049)|negative regulation of ATPase activity (GO:0032780)|regulation of smooth muscle contraction (GO:0006940)|regulation of systemic arterial blood pressure by ischemic conditions (GO:0001980)|vasculogenesis (GO:0001570)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytosol (GO:0005829)|sarcomere (GO:0030017)|troponin complex (GO:0005861)	actin binding (GO:0003779)|calcium channel inhibitor activity (GO:0019855)|calcium-dependent protein binding (GO:0048306)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|troponin C binding (GO:0030172)|troponin T binding (GO:0031014)			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CCAGCGGCTGGCAGCGGGTGC	0.652																																					.		.											.	TNNI3-92	0			.						.						12.0	15.0	14.0					19																	55667611		1730	3811	5541	SO:0001819	synonymous_variant	7137	.			CGGCTGGCAGCGG	M64247	CCDS42628.1	19q13.4	2014-09-17	2005-09-12			ENSG00000129991			11947	protein-coding gene	gene with protein product		191044	"""troponin I, cardiac"", ""cardiomyopathy, dilated 2A (autosomal recessive)"""	CMD2A		9605869, 9241277, 10806205	Standard	NM_000363		Approved	TNNC1, CMH7	uc002qjg.4	P19429		ENST00000344887.5:c.240C>T	19.37:g.55667611G>A		58	0		157	82	.	0	0	11	15	4		Silent	SNP	ENST00000344887.5	37	CCDS42628.1																																																																																			.		0.652	TNNI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452098.1		
PPP6R1	22870	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	19	55742232	55742232	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:55742232G>A	ENST00000412770.2	-	22	3046	c.2480C>T	c.(2479-2481)aCc>aTc	p.T827I	TMEM86B_ENST00000327042.4_5'Flank|PPP6R1_ENST00000587283.1_Missense_Mutation_p.T827I	NM_014931.3	NP_055746.3	Q9UPN7	PP6R1_HUMAN	protein phosphatase 6, regulatory subunit 1	827	Pro-rich.				regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)	protein phosphatase binding (GO:0019903)			breast(1)	1						TGGGACAGAGGTAGAGGGGTC	0.662																																					p.T827I		.											.	PPP6R1-67	0			c.C2480T						.						25.0	32.0	29.0					19																	55742232		2022	4188	6210	SO:0001583	missense	22870	exon22			ACAGAGGTAGAGG	AB029038	CCDS46186.1	19q13.42	2012-04-17	2010-06-28	2010-06-28	ENSG00000105063	ENSG00000105063		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	29195	protein-coding gene	gene with protein product		610875	"""KIAA1115"", ""SAPS domain family, member 1"""	KIAA1115, SAPS1		16769727	Standard	NM_014931		Approved	SAP190	uc002qjw.4	Q9UPN7		ENST00000412770.2:c.2480C>T	19.37:g.55742232G>A	ENSP00000414202:p.Thr827Ile	18	0		50	21	NM_014931	0	0	62	131	69	Q2M2H3|Q504V2|Q6NVJ6|Q9BU97	Missense_Mutation	SNP	ENST00000412770.2	37	CCDS46186.1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.592008	0.46214	.	.	ENSG00000105063	ENST00000444538;ENST00000412770	T	0.51817	0.69	3.49	2.45	0.29901	.	0.225320	0.22869	N	0.054659	T	0.29355	0.0731	N	0.24115	0.695	0.26830	N	0.968605	B;B	0.21753	0.009;0.06	B;B	0.20767	0.014;0.031	T	0.13548	-1.0505	10	0.37606	T	0.19	-24.6564	6.8529	0.24024	0.1281:0.0:0.8719:0.0	.	827;189	Q9UPN7;Q96ID3	PP6R1_HUMAN;.	I	342;827	ENSP00000414202:T827I	ENSP00000414202:T827I	T	-	2	0	PPP6R1	60434044	1.000000	0.71417	1.000000	0.80357	0.743000	0.42351	2.778000	0.47726	1.053000	0.40415	0.313000	0.20887	ACC	.		0.662	PPP6R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452663.1	NM_014931	
ZNF579	163033	hgsc.bcm.edu	37	19	56090309	56090309	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:56090309G>A	ENST00000325421.4	-	2	725	c.697C>T	c.(697-699)Ctg>Ttg	p.L233L	CTD-2537I9.5_ENST00000589396.1_lincRNA	NM_152600.2	NP_689813.2	Q8NAF0	ZN579_HUMAN	zinc finger protein 579	233					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.106)		CGGCAGCGCAGACACAGCAGC	0.731																																					p.L233L		.											.	ZNF579-90	0			c.C697T						.						7.0	9.0	8.0					19																	56090309		2144	4224	6368	SO:0001819	synonymous_variant	163033	exon2			AGCGCAGACACAG	AK092772	CCDS12927.1	19q13.42	2013-09-20			ENSG00000218891	ENSG00000218891		"""Zinc fingers, C2H2-type"""	26646	protein-coding gene	gene with protein product							Standard	NM_152600		Approved	FLJ35453	uc002qlh.3	Q8NAF0	OTTHUMG00000180857	ENST00000325421.4:c.697C>T	19.37:g.56090309G>A		7	0		63	27	NM_152600	0	0	4	6	2		Silent	SNP	ENST00000325421.4	37	CCDS12927.1																																																																																			.		0.731	ZNF579-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453348.1	NM_152600	
ZNF784	147808	hgsc.bcm.edu	37	19	56133258	56133258	+	Silent	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:56133258C>T	ENST00000325351.4	-	2	870	c.831G>A	c.(829-831)ggG>ggA	p.G277G	ZNF784_ENST00000591479.1_3'UTR	NM_203374.1	NP_976308.1	Q8NCA9	ZN784_HUMAN	zinc finger protein 784	277					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			upper_aerodigestive_tract(1)	1			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		CCGGCCCCGGCCCGTGGAAGT	0.716																																					p.G277G		.											.	ZNF784-68	0			c.G831A						.						19.0	17.0	18.0					19																	56133258		2196	4295	6491	SO:0001819	synonymous_variant	147808	exon2			CCCCGGCCCGTGG	AK074859	CCDS12930.1	19q13.42	2013-01-08			ENSG00000179922	ENSG00000179922		"""Zinc fingers, C2H2-type"""	33111	protein-coding gene	gene with protein product							Standard	NM_203374		Approved	MGC75238	uc002qll.1	Q8NCA9	OTTHUMG00000180860	ENST00000325351.4:c.831G>A	19.37:g.56133258C>T		5	0		40	16	NM_203374	0	0	1	1	0		Silent	SNP	ENST00000325351.4	37	CCDS12930.1																																																																																			.		0.716	ZNF784-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453355.2	NM_203374	
NLRP8	126205	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	56473553	56473553	+	Missense_Mutation	SNP	G	G	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:56473553G>C	ENST00000291971.3	+	4	2234	c.2163G>C	c.(2161-2163)aaG>aaC	p.K721N	NLRP8_ENST00000590542.1_Missense_Mutation_p.K721N	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	721					neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CTTTTTTGAAGGCTCTCGCGG	0.483																																					p.K721N		.											.	NLRP8-361	0			c.G2163C						.						149.0	127.0	135.0					19																	56473553		2203	4300	6503	SO:0001583	missense	126205	exon4			TTTGAAGGCTCTC	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.2163G>C	19.37:g.56473553G>C	ENSP00000291971:p.Lys721Asn	115	0		142	75	NM_176811	0	0	0	0	0	Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	G	2.409	-0.335708	0.05278	.	.	ENSG00000179709	ENST00000291971	D	0.87571	-2.27	1.93	0.879	0.19155	.	.	.	.	.	T	0.79275	0.4418	L	0.43152	1.355	0.09310	N	1	B;B	0.31859	0.343;0.225	B;B	0.34180	0.177;0.087	T	0.64419	-0.6412	9	0.25106	T	0.35	.	4.1933	0.10431	0.2111:0.0:0.7889:0.0	.	721;721	Q86W28-2;Q86W28	.;NALP8_HUMAN	N	721	ENSP00000291971:K721N	ENSP00000291971:K721N	K	+	3	2	NLRP8	61165365	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.325000	0.07976	0.376000	0.24707	0.508000	0.49915	AAG	.		0.483	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811	
ZNF71	58491	broad.mit.edu	37	19	57133639	57133639	+	Silent	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:57133639C>T	ENST00000328070.6	+	3	1218	c.984C>T	c.(982-984)tgC>tgT	p.C328C		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	328					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)			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		CCTACGTGTGCGGCGAGTGCG	0.637																																					p.C328C		.											.	ZNF71-91	0			c.C984T						.						84.0	77.0	80.0					19																	57133639		2203	4300	6503	SO:0001819	synonymous_variant	58491	exon3			CGTGTGCGGCGAG	X60074	CCDS12947.1	19q13.4	2013-01-08	2006-05-12			ENSG00000197951		"""Zinc fingers, C2H2-type"""	13141	protein-coding gene	gene with protein product		194545	"""zinc finger protein 71 (Cos26)"""			1639391	Standard	NM_021216		Approved	Cos26, EZFIT	uc002qnm.4	Q9NQZ8		ENST00000328070.6:c.984C>T	19.37:g.57133639C>T		265	1		397	9	NM_021216	0	0	27	27	0	Q15919|Q9UC09|Q9UQD3	Silent	SNP	ENST00000328070.6	37	CCDS12947.1																																																																																			.		0.637	ZNF71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459798.2	NM_021216	
MYT1L	23040	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	1983497	1983497	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:1983497C>T	ENST00000399161.2	-	6	800	c.53G>A	c.(52-54)cGa>cAa	p.R18Q	MYT1L_ENST00000428368.2_Missense_Mutation_p.R18Q	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	18					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GGACATACCTCGAACCCCTTT	0.582																																					p.R18Q		.											.	MYT1L-95	0			c.G53A						.						50.0	58.0	55.0					2																	1983497		2010	4177	6187	SO:0001583	missense	23040	exon6			ATACCTCGAACCC	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.53G>A	2.37:g.1983497C>T	ENSP00000382114:p.Arg18Gln	63	0		108	61	NM_015025	0	0	0	0	0	A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	37		.	.	.	.	.	.	.	.	.	.	C	25.7	4.666766	0.88251	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.55234	0.53;0.53	5.1	5.1	0.69264	.	0.000000	0.47852	D	0.000207	T	0.68659	0.3025	L	0.54323	1.7	0.53005	D	0.999965	D;D	0.69078	0.994;0.997	P;D	0.66847	0.885;0.947	T	0.71262	-0.4645	10	0.72032	D	0.01	-19.3941	18.8902	0.92397	0.0:1.0:0.0:0.0	.	18;18	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	Q	18	ENSP00000382114:R18Q;ENSP00000396103:R18Q	ENSP00000295067:R18Q	R	-	2	0	MYT1L	1962504	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.591000	0.74090	2.539000	0.85634	0.591000	0.81541	CGA	.		0.582	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025	
TSSC1	7260	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	3193197	3193197	+	Missense_Mutation	SNP	C	C	T	rs374023297		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:3193197C>T	ENST00000382125.4	-	9	1264	c.1072G>A	c.(1072-1074)Gct>Act	p.A358T	TSSC1_ENST00000398659.4_Missense_Mutation_p.A385T|TSSC1_ENST00000478754.1_5'UTR	NM_003310.2	NP_003301.1	Q53HC9	TSSC1_HUMAN	tumor suppressing subtransferable candidate 1	358										breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)		CACGGGTCAGCCGAGGACCAG	0.622																																					p.A358T	Colon(140;1261 1762 4183 34270 49743)	.											.	TSSC1-90	0			c.G1072A						.	C	THR/ALA	1,4383		0,1,2191	49.0	40.0	43.0		1072	5.1	0.6	2		43	0,8570		0,0,4285	no	missense	TSSC1	NM_003310.2	58	0,1,6476	TT,TC,CC		0.0,0.0228,0.0077	probably-damaging	358/388	3193197	1,12953	2192	4285	6477	SO:0001583	missense	7260	exon9			GGTCAGCCGAGGA	AF019952	CCDS1651.1	2p25.3	2013-01-10			ENSG00000032389	ENSG00000032389		"""WD repeat domain containing"""	12383	protein-coding gene	gene with protein product		608998				9403053, 9925925	Standard	NM_003310		Approved		uc002qxj.2	Q53HC9	OTTHUMG00000090329	ENST00000382125.4:c.1072G>A	2.37:g.3193197C>T	ENSP00000371559:p.Ala358Thr	217	0		289	140	NM_003310	0	0	18	46	28	D6W4Y1|O43179|Q53S19|Q53SG2	Missense_Mutation	SNP	ENST00000382125.4	37	CCDS1651.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.243465	0.79912	2.28E-4	0.0	ENSG00000032389	ENST00000382125;ENST00000398659	T;T	0.12984	2.63;2.63	5.11	5.11	0.69529	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.29716	0.0742	L	0.58969	1.84	0.80722	D	1	D	0.57899	0.981	P	0.56343	0.796	T	0.01266	-1.1401	10	0.56958	D	0.05	-20.5923	17.5094	0.87756	0.0:1.0:0.0:0.0	.	358	Q53HC9	TSSC1_HUMAN	T	358;385	ENSP00000371559:A358T;ENSP00000381652:A385T	ENSP00000371559:A358T	A	-	1	0	TSSC1	3172204	1.000000	0.71417	0.633000	0.29310	0.148000	0.21650	7.664000	0.83830	2.369000	0.80426	0.591000	0.81541	GCT	.		0.622	TSSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206694.2	NM_003310	
CMPK2	129607	hgsc.bcm.edu	37	2	7005369	7005369	+	Silent	SNP	A	A	G	rs11678810	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:7005369A>G	ENST00000256722.5	-	1	458	c.459T>C	c.(457-459)tgT>tgC	p.C153C	CMPK2_ENST00000404168.1_Silent_p.C153C|CMPK2_ENST00000458098.1_Silent_p.C153C|CMPK2_ENST00000478738.1_Intron	NM_207315.3	NP_997198.2	Q5EBM0	CMPK2_HUMAN	cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial	153					cellular response to lipopolysaccharide (GO:0071222)|dTDP biosynthetic process (GO:0006233)|dUDP biosynthetic process (GO:0006227)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)|thymidylate kinase activity (GO:0004798)|UMP kinase activity (GO:0033862)			large_intestine(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GTGCCTCCTGACAGGCGCCCA	0.741													G|||	4998	0.998003	0.9924	1.0	5008	,	,		10694	1.0		1.0	False		,,,				2504	1.0				p.C153C		.											.	CMPK2-68	0			c.T459C						.	G		3605,39		1783,39,0	3.0	4.0	4.0		459	1.6	0.0	2	dbSNP_120	4	7874,0		3937,0,0	no	coding-synonymous	CMPK2	NM_207315.2		5720,39,0	GG,GA,AA		0.0,1.0703,0.3386		153/450	7005369	11479,39	1822	3937	5759	SO:0001819	synonymous_variant	129607	exon1			CTCCTGACAGGCG		CCDS42648.1, CCDS58695.1, CCDS58696.1	2p25.2	2008-01-25			ENSG00000134326	ENSG00000134326	2.7.4.14		27015	protein-coding gene	gene with protein product	"""cytidylate kinase 2"""	611787				17999954	Standard	NM_207315		Approved	TYKi, UMP-CMPK2	uc002qyo.4	Q5EBM0	OTTHUMG00000151629	ENST00000256722.5:c.459T>C	2.37:g.7005369A>G		0	0		7	7	NM_001256478	0	0	0	1	1	A2RUB0|A5D8T2|B7ZM18|Q6ZRU2|Q96AL8	Silent	SNP	ENST00000256722.5	37	CCDS42648.1																																																																																			A|0.003;G|0.997		0.741	CMPK2-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323339.2	NM_207315	
NTSR2	23620	hgsc.bcm.edu	37	2	11810064	11810064	+	Silent	SNP	G	G	T	rs11556847		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:11810064G>T	ENST00000306928.5	-	1	226	c.192C>A	c.(190-192)cgC>cgA	p.R64R		NM_012344.3	NP_036476	O95665	NTR2_HUMAN	neurotensin receptor 2	64					cell surface receptor signaling pathway (GO:0007166)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of membrane potential (GO:0042391)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled neurotensin receptor activity (GO:0016492)|G-protein coupled receptor activity (GO:0004930)			breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	ggcgccccgcgcgcccggccc	0.731																																					p.R64R		.											.	NTSR2-946	0			c.C192A						.	G		0,3146		0,0,1573	2.0	3.0	3.0		192	2.0	0.0	2	dbSNP_120	3	13,6299		0,13,3143	no	coding-synonymous	NTSR2	NM_012344.3		0,13,4716	TT,TG,GG		0.206,0.0,0.1374		64/411	11810064	13,9445	1573	3156	4729	SO:0001819	synonymous_variant	23620	exon1			CCCCGCGCGCCCG	Y10148	CCDS1681.1	2p25.1	2012-08-08			ENSG00000169006	ENSG00000169006		"""GPCR / Class A : Neurotensin receptors"""	8040	protein-coding gene	gene with protein product		605538				8647296, 9851594	Standard	NM_012344		Approved	NTR2	uc002rbq.4	O95665	OTTHUMG00000119083	ENST00000306928.5:c.192C>A	2.37:g.11810064G>T		0	0		11	4	NM_012344	0	0	0	0	0	Q53QQ5|Q57Z87|Q8IY58|Q8TBH6	Silent	SNP	ENST00000306928.5	37	CCDS1681.1																																																																																			G|1.000;|0.000		0.731	NTSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239297.1		
NBAS	51594	broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	15694258	15694258	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:15694258C>T	ENST00000281513.5	-	4	239	c.214G>A	c.(214-216)Gca>Aca	p.A72T	NBAS_ENST00000441750.1_Missense_Mutation_p.A72T	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	72					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						AAAAAAGGTGCCGGGCTGAAA	0.368																																					p.A72T		.											.	NBAS-94	0			c.G214A						.						83.0	82.0	82.0					2																	15694258		2203	4300	6503	SO:0001583	missense	51594	exon4			AAGGTGCCGGGCT	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.214G>A	2.37:g.15694258C>T	ENSP00000281513:p.Ala72Thr	100	1		127	60	NM_015909	0	0	0	0	0	O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	CCDS1685.1	.	.	.	.	.	.	.	.	.	.	C	14.06	2.422379	0.43020	.	.	ENSG00000151779	ENST00000441750;ENST00000281513	T;T	0.09538	2.97;3.12	5.33	4.25	0.50352	.	0.257486	0.39083	N	0.001474	T	0.07007	0.0178	N	0.12182	0.205	0.20638	N	0.999874	B	0.12630	0.006	B	0.15052	0.012	T	0.26744	-1.0094	10	0.87932	D	0	.	11.8485	0.52397	0.0:0.9004:0.0:0.0996	.	72	A2RRP1	NBAS_HUMAN	T	72	ENSP00000413201:A72T;ENSP00000281513:A72T	ENSP00000281513:A72T	A	-	1	0	NBAS	15611709	1.000000	0.71417	0.991000	0.47740	0.720000	0.41350	1.489000	0.35562	2.493000	0.84123	0.305000	0.20034	GCA	.		0.368	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909	
SMC6	79677	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	17906608	17906608	+	Silent	SNP	C	C	T	rs144198428	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:17906608C>T	ENST00000448223.2	-	9	911	c.642G>A	c.(640-642)acG>acA	p.T214T	SMC6_ENST00000381272.4_Silent_p.T240T|SMC6_ENST00000402989.1_Silent_p.T214T|SMC6_ENST00000351948.4_Silent_p.T214T	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	214					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|intracellular (GO:0005622)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)	p.T214T(2)		NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GTTCAAGTTGCGTTGCTTTCA	0.299													C|||	4	0.000798722	0.0023	0.0	5008	,	,		17397	0.0		0.001	False		,,,				2504	0.0				p.T214T		.											.	SMC6-292	2	Substitution - coding silent(2)	kidney(1)|endometrium(1)	c.G642A						.	C	,	6,4398	9.9+/-24.2	0,6,2196	122.0	103.0	109.0		642,642	-2.1	1.0	2	dbSNP_134	109	11,8579	7.7+/-29.5	0,11,4284	no	coding-synonymous,coding-synonymous	SMC6	NM_001142286.1,NM_024624.5	,	0,17,6480	TT,TC,CC		0.1281,0.1362,0.1308	,	214/1092,214/1092	17906608	17,12977	2202	4295	6497	SO:0001819	synonymous_variant	79677	exon9			AAGTTGCGTTGCT	AJ310551	CCDS1690.1	2p24.3	2008-02-05	2006-07-06	2006-07-06	ENSG00000163029	ENSG00000163029		"""Structural maintenance of chromosomes proteins"""	20466	protein-coding gene	gene with protein product		609387	"""SMC6 structural maintenance of chromosomes 6-like 1 (yeast)"""	SMC6L1		11230166	Standard	NM_024624		Approved	FLJ22116	uc002rcn.3	Q96SB8	OTTHUMG00000090675	ENST00000448223.2:c.642G>A	2.37:g.17906608C>T		31	0		32	6	NM_001142286	0	0	5	14	9	A8K8Q6|D6W518|Q05BV4|Q9H0X3|Q9H6M0	Silent	SNP	ENST00000448223.2	37	CCDS1690.1																																																																																			C|0.999;T|0.001		0.299	SMC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207359.1	NM_024624	
WDR35	57539	ucsc.edu;bcgsc.ca	37	2	20174293	20174293	+	Nonsense_Mutation	SNP	G	G	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:20174293G>T	ENST00000345530.3	-	7	787	c.672C>A	c.(670-672)tgC>tgA	p.C224*	WDR35_ENST00000416055.2_5'UTR|WDR35_ENST00000281405.4_Nonsense_Mutation_p.C224*	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	224					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)				breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAAGGCAAGGGCAATCAGGCT	0.373																																					p.C224X		.											.	WDR35-91	0			c.C672A						.						69.0	61.0	64.0					2																	20174293		2203	4300	6503	SO:0001587	stop_gained	57539	exon7			GCAAGGGCAATCA	AB037757	CCDS1695.1, CCDS33152.1	2p24.3	2014-02-21			ENSG00000118965	ENSG00000118965		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	29250	protein-coding gene	gene with protein product		613602				10718198	Standard	NM_001006657		Approved	MGC33196, KIAA1336, IFT121, IFTA1	uc002rdi.3	Q9P2L0	OTTHUMG00000090737	ENST00000345530.3:c.672C>A	2.37:g.20174293G>T	ENSP00000314444:p.Cys224*	297	3		306	127	NM_020779	0	0	1	1	0	B3KVI5|Q4ZG01|Q8NE11	Nonsense_Mutation	SNP	ENST00000345530.3	37	CCDS33152.1	.	.	.	.	.	.	.	.	.	.	G	36	5.766107	0.96914	.	.	ENSG00000118965	ENST00000345530;ENST00000281405	.	.	.	5.35	0.463	0.16700	.	0.089782	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-14.2762	10.4315	0.44411	0.4029:0.0:0.5971:0.0	.	.	.	.	X	224	.	ENSP00000281405:C224X	C	-	3	2	WDR35	20037774	0.983000	0.35010	0.980000	0.43619	0.921000	0.55340	0.238000	0.18004	0.080000	0.16959	0.591000	0.81541	TGC	.		0.373	WDR35-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000207472.2	NM_020779	
APOB	338	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	21233246	21233246	+	Missense_Mutation	SNP	A	A	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:21233246A>T	ENST00000233242.1	-	26	6621	c.6494T>A	c.(6493-6495)aTc>aAc	p.I2165N		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2165	Heparin-binding.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATTAAAGTTGATTTTGGCATC	0.289																																					p.I2165N		.											.	APOB-175	0			c.T6494A						.						56.0	55.0	55.0					2																	21233246		2203	4300	6503	SO:0001583	missense	338	exon26			AAGTTGATTTTGG	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.6494T>A	2.37:g.21233246A>T	ENSP00000233242:p.Ile2165Asn	39	0		37	15	NM_000384	0	0	0	0	0	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	A	10.78	1.447716	0.26074	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00711	5.8	5.65	5.65	0.86999	.	0.199152	0.35805	N	0.002967	T	0.01254	0.0041	M	0.75447	2.3	0.80722	D	1	B	0.29612	0.251	B	0.26094	0.066	T	0.57802	-0.7748	10	0.36615	T	0.2	.	6.4013	0.21640	0.6288:0.1286:0.0:0.2426	.	2165	P04114	APOB_HUMAN	N	2165	ENSP00000233242:I2165N	ENSP00000233242:I2165N	I	-	2	0	APOB	21086751	0.930000	0.31532	1.000000	0.80357	0.993000	0.82548	0.214000	0.17541	2.147000	0.66899	0.459000	0.35465	ATC	.		0.289	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1		
NCOA1	8648	broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	24929918	24929918	+	Missense_Mutation	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:24929918A>G	ENST00000406961.1	+	13	2231	c.1579A>G	c.(1579-1581)Aat>Gat	p.N527D	NCOA1_ENST00000395856.3_Missense_Mutation_p.N527D|NCOA1_ENST00000538539.1_Missense_Mutation_p.N527D|NCOA1_ENST00000407230.1_Missense_Mutation_p.N376D|NCOA1_ENST00000405141.1_Missense_Mutation_p.N527D|NCOA1_ENST00000288599.5_Missense_Mutation_p.N527D|NCOA1_ENST00000348332.3_Missense_Mutation_p.N527D			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	527	Interaction with STAT3.|Ser-rich.				androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)		PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAGTGCCTGTAATAATAATAA	0.428			T	PAX3	alveolar rhadomyosarcoma																																p.N527D		.		Dom	yes		2	2p23	8648	nuclear receptor coactivator 1		M	.	NCOA1-228	0			c.A1579G						.						89.0	93.0	92.0					2																	24929918		2203	4300	6503	SO:0001583	missense	8648	exon11			GCCTGTAATAATA	U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.1579A>G	2.37:g.24929918A>G	ENSP00000385216:p.Asn527Asp	162	2		172	84	NM_147223	0	0	11	22	11	O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Missense_Mutation	SNP	ENST00000406961.1	37	CCDS1712.1	.	.	.	.	.	.	.	.	.	.	A	12.27	1.888042	0.33348	.	.	ENSG00000084676	ENST00000406961;ENST00000405141;ENST00000407230;ENST00000538539;ENST00000348332;ENST00000288599;ENST00000395856	T;T;T;T;T;T;T	0.02158	4.55;4.54;4.42;4.54;4.55;4.54;4.55	5.34	2.87	0.33458	.	0.638827	0.17927	N	0.157300	T	0.02571	0.0078	L	0.50333	1.59	0.27533	N	0.951048	B;B;B;B	0.18310	0.027;0.01;0.002;0.008	B;B;B;B	0.19391	0.025;0.006;0.008;0.004	T	0.29243	-1.0018	10	0.31617	T	0.26	.	6.186	0.20498	0.7468:0.1649:0.0883:0.0	.	527;527;527;376	Q15788-3;Q15788;Q15788-2;B5MCN7	.;NCOA1_HUMAN;.;.	D	527;527;376;527;527;527;527	ENSP00000385216:N527D;ENSP00000385097:N527D;ENSP00000385195:N376D;ENSP00000444039:N527D;ENSP00000320940:N527D;ENSP00000288599:N527D;ENSP00000379197:N527D	ENSP00000288599:N527D	N	+	1	0	NCOA1	24783422	0.175000	0.23083	1.000000	0.80357	0.991000	0.79684	0.882000	0.28186	2.148000	0.66965	0.533000	0.62120	AAT	.		0.428	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246852.3	NM_147223	
PTRHD1	391356	bcgsc.ca	37	2	25013384	25013384	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:25013384G>A	ENST00000328379.5	-	2	323	c.319C>T	c.(319-321)Ctg>Ttg	p.L107L	CENPO_ENST00000473706.1_5'Flank|PTRHD1_ENST00000487316.1_5'UTR|CENPO_ENST00000260662.1_5'Flank|CENPO_ENST00000380834.2_5'Flank	NM_001013663.1	NP_001013685.1	Q6GMV3	PTRD1_HUMAN	peptidyl-tRNA hydrolase domain containing 1	107						extracellular vesicular exosome (GO:0070062)	aminoacyl-tRNA hydrolase activity (GO:0004045)			autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|skin(1)	6						TCAAGCCACAGCATGTGGTCA	0.493																																					p.L107L		.											.	PTRHD1-90	0			c.C319T						.						142.0	122.0	129.0					2																	25013384		2203	4300	6503	SO:0001819	synonymous_variant	391356	exon2			GCCACAGCATGTG		CCDS33156.1	2p23.3	2011-05-09	2011-05-09	2011-05-09	ENSG00000184924	ENSG00000184924			33782	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 79"""	C2orf79		12477932	Standard	NM_001013663		Approved	LOC391356	uc002rfm.3	Q6GMV3	OTTHUMG00000151978	ENST00000328379.5:c.319C>T	2.37:g.25013384G>A		119	2		138	75	NM_001013663	0	0	81	119	38		Silent	SNP	ENST00000328379.5	37	CCDS33156.1																																																																																			.		0.493	PTRHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324626.3	NM_001013663	
OTOF	9381	broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	26707488	26707488	+	Missense_Mutation	SNP	A	A	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:26707488A>T	ENST00000272371.2	-	12	1185	c.1059T>A	c.(1057-1059)caT>caA	p.H353Q	OTOF_ENST00000403946.3_Missense_Mutation_p.H353Q	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	353					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCACTTGTGATGGAACTGGT	0.612																																					p.H353Q	GBM(102;732 1451 20652 24062 31372)	.											.	OTOF-135	0			c.T1059A						.						118.0	91.0	100.0					2																	26707488		2203	4300	6503	SO:0001583	missense	9381	exon12			CTTGTGATGGAAC	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.1059T>A	2.37:g.26707488A>T	ENSP00000272371:p.His353Gln	168	2		248	103	NM_194248	0	0	0	0	0	B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	37	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	A	15.68	2.904152	0.52333	.	.	ENSG00000115155	ENST00000272371;ENST00000403946	T;T	0.80123	-1.34;-1.34	4.84	1.48	0.22813	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);FerIin domain (1);	0.109603	0.64402	D	0.000004	T	0.72028	0.3410	L	0.38531	1.155	0.41011	D	0.985002	P	0.46142	0.873	P	0.45377	0.478	T	0.66492	-0.5910	10	0.35671	T	0.21	-16.3934	9.0029	0.36092	0.2718:0.0:0.7282:0.0	.	353	Q9HC10	OTOF_HUMAN	Q	353	ENSP00000272371:H353Q;ENSP00000385255:H353Q	ENSP00000272371:H353Q	H	-	3	2	OTOF	26560992	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.149000	0.42244	0.319000	0.23209	0.379000	0.24179	CAT	.		0.612	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3		
DPYSL5	56896	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	27121385	27121385	+	Silent	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:27121385C>T	ENST00000288699.6	+	2	176	c.18C>T	c.(16-18)gcC>gcT	p.A6A	DPYSL5_ENST00000401478.1_Silent_p.A6A	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	6					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)|signal transduction (GO:0007165)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCAACTCAGCCAGCGTGAGGA	0.537																																					p.A6A		.											.	DPYSL5-92	0			c.C18T						.						225.0	205.0	212.0					2																	27121385		2203	4300	6503	SO:0001819	synonymous_variant	56896	exon2			CTCAGCCAGCGTG	AF264015	CCDS1730.1	2p23.3	2008-02-05			ENSG00000157851	ENSG00000157851			20637	protein-coding gene	gene with protein product		608383				10851247, 11034345	Standard	NM_020134		Approved	CRMP5, Ulip6, CRMP-5, CRAM	uc002rhu.4	Q9BPU6	OTTHUMG00000097071	ENST00000288699.6:c.18C>T	2.37:g.27121385C>T		395	1		513	241	NM_001253724	0	0	0	0	0	Q8TCL6|Q9NQC4|Q9NRY9	Silent	SNP	ENST00000288699.6	37	CCDS1730.1																																																																																			.		0.537	DPYSL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214187.2	NM_020134	
SLC5A6	8884	broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	27428302	27428302	+	Missense_Mutation	SNP	A	A	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:27428302A>T	ENST00000310574.3	-	7	1123	c.650T>A	c.(649-651)gTt>gAt	p.V217D	SLC5A6_ENST00000461319.1_5'Flank|SLC5A6_ENST00000408041.1_Missense_Mutation_p.V217D	NM_021095.2	NP_066918.2	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6	217					biotin metabolic process (GO:0006768)|biotin transport (GO:0015878)|pantothenate metabolic process (GO:0015939)|pantothenate transmembrane transport (GO:0015887)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)			endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|gabapentin enacarbil(DB08872)|Lipoic Acid(DB00166)	CACAATGATAACTGCCAGCTG	0.592																																					p.V217D		.											.	SLC5A6-92	0			c.T650A						.						76.0	81.0	80.0					2																	27428302		2203	4300	6503	SO:0001583	missense	8884	exon7			ATGATAACTGCCA	AF069307	CCDS1740.1	2p23	2013-07-19	2013-07-19		ENSG00000138074	ENSG00000138074		"""Solute carriers"""	11041	protein-coding gene	gene with protein product		604024	"""solute carrier family 5 (sodium-dependent vitamin transporter), member 6"""			9516450, 10329687	Standard	NM_021095		Approved	SMVT	uc002rjd.3	Q9Y289	OTTHUMG00000097075	ENST00000310574.3:c.650T>A	2.37:g.27428302A>T	ENSP00000310208:p.Val217Asp	240	1		341	135	NM_021095	0	0	0	0	0	B2RB85|D6W549|Q969Y5	Missense_Mutation	SNP	ENST00000310574.3	37	CCDS1740.1	.	.	.	.	.	.	.	.	.	.	A	18.50	3.638294	0.67130	.	.	ENSG00000138074	ENST00000310574;ENST00000408041	D;D	0.88741	-2.42;-2.42	5.52	5.52	0.82312	.	0.070642	0.56097	D	0.000033	D	0.95701	0.8602	M	0.93507	3.425	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.96615	0.9455	10	0.87932	D	0	.	13.6286	0.62181	1.0:0.0:0.0:0.0	.	217	Q9Y289	SC5A6_HUMAN	D	217	ENSP00000310208:V217D;ENSP00000384853:V217D	ENSP00000310208:V217D	V	-	2	0	SLC5A6	27281806	1.000000	0.71417	0.953000	0.39169	0.067000	0.16453	9.168000	0.94781	2.099000	0.63709	0.533000	0.62120	GTT	.		0.592	SLC5A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214194.1	NM_021095	
CAD	790	hgsc.bcm.edu;bcgsc.ca	37	2	27455435	27455435	+	Frame_Shift_Del	DEL	G	G	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:27455435delG	ENST00000403525.1	+	17	2720	c.2576delG	c.(2575-2577)tggfs	p.W859fs	CAD_ENST00000464159.1_3'UTR|CAD_ENST00000264705.4_Frame_Shift_Del_p.W922fs			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTAACGTATTGGGGCACCACC	0.517																																					p.W922fs		.											.	CAD-295	0			c.2765delG						.						194.0	132.0	153.0					2																	27455435		2203	4300	6503	SO:0001589	frameshift_variant	790	exon18			CGTATTGGGGCAC	D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.2576delG	2.37:g.27455435delG	ENSP00000384510:p.Trp859fs	214	0		307	129	NM_004341	0	0	0	0	0	O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Frame_Shift_Del	DEL	ENST00000403525.1	37																																																																																				.		0.517	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1		
PLB1	151056	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	2	28719029	28719029	+	Frame_Shift_Del	DEL	G	G	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:28719029delG	ENST00000327757.5	+	1	92	c.48delG	c.(46-48)ctgfs	p.L16fs	PLB1_ENST00000422425.2_Frame_Shift_Del_p.L16fs	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	16					glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					TGCTGCTTCTGGGGCAAGGTA	0.592																																					p.L16fs		.											.	PLB1-141	0			c.48delG						.						89.0	81.0	84.0					2																	28719029		2203	4300	6503	SO:0001589	frameshift_variant	151056	exon1			GCTTCTGGGGCAA		CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.48delG	2.37:g.28719029delG	ENSP00000330442:p.Leu16fs	77	0		109	50	NM_001170585	0	0	0	0	0	A8KAX2|Q53S03|Q8IUP7|Q96DP9	Frame_Shift_Del	DEL	ENST00000327757.5	37	CCDS33168.1																																																																																			.		0.592	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353348.2		
CAPN14	440854	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	31409307	31409307	+	Missense_Mutation	SNP	C	C	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:31409307C>G	ENST00000403897.3	-	16	1773	c.1632G>C	c.(1630-1632)caG>caC	p.Q544H	CAPN14_ENST00000444918.2_Missense_Mutation_p.Q544H	NM_001145122.1	NP_001138594.1	A8MX76	CAN14_HUMAN	calpain 14	544	Domain IV.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(1)|endometrium(2)|prostate(1)|skin(1)|stomach(2)	7						ACCAGGTCATCTGGTTCAGGA	0.408																																					p.Q544H		.											.	.	0			c.G1632C						.						167.0	150.0	155.0					2																	31409307		692	1591	2283	SO:0001583	missense	440854	exon16			GGTCATCTGGTTC	AC015980	CCDS46254.1	2p23.1-p21	2013-01-10			ENSG00000214711	ENSG00000214711		"""EF-hand domain containing"""	16664	protein-coding gene	gene with protein product		610229				11675017	Standard	NM_001145122		Approved		uc010yms.2	A8MX76	OTTHUMG00000152039	ENST00000403897.3:c.1632G>C	2.37:g.31409307C>G	ENSP00000385247:p.Gln544His	113	0		161	72	NM_001145122	0	0	0	0	0	B3KRU9	Missense_Mutation	SNP	ENST00000403897.3	37	CCDS46254.1	.	.	.	.	.	.	.	.	.	.	C	0.077	-1.190361	0.01607	.	.	ENSG00000214711	ENST00000444918;ENST00000403897	T;T	0.29917	1.55;1.55	3.82	-6.24	0.02046	EF-hand-like domain (1);	0.713718	0.12032	N	0.505867	T	0.12475	0.0303	L	0.27053	0.805	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.23904	-1.0175	10	0.25106	T	0.35	.	0.1074	0.00053	0.2981:0.2209:0.1586:0.3225	.	544;368	A8MX76;A8MX76-2	CAN14_HUMAN;.	H	544	ENSP00000398670:Q544H;ENSP00000385247:Q544H	ENSP00000385247:Q544H	Q	-	3	2	CAPN14	31262811	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-1.623000	0.02040	-1.159000	0.02807	-1.303000	0.01326	CAG	.		0.408	CAPN14-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325010.1	NM_001145122	
SLC30A6	55676	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	32417996	32417996	+	Silent	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:32417996C>T	ENST00000282587.5	+	7	412	c.375C>T	c.(373-375)cgC>cgT	p.R125R	SLC30A6_ENST00000379343.2_Silent_p.R165R|SLC30A6_ENST00000357055.3_5'UTR|SLC30A6_ENST00000538303.1_Silent_p.R96R|SLC30A6_ENST00000435660.1_Silent_p.R125R|SLC30A6_ENST00000406369.1_Silent_p.R51R	NM_017964.3	NP_060434.2	Q6NXT4	ZNT6_HUMAN	solute carrier family 30 (zinc transporter), member 6	125					cellular protein metabolic process (GO:0044267)|Golgi to endosome transport (GO:0006895)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	zinc ion transmembrane transporter activity (GO:0005385)			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GTGCAGAACGCTTTTTGGAAC	0.244																																					p.R165R		.											.	SLC30A6-90	0			c.C495T						.						24.0	26.0	25.0					2																	32417996		2167	4293	6460	SO:0001819	synonymous_variant	55676	exon8			AGAACGCTTTTTG	AK055663	CCDS1780.1, CCDS54341.1, CCDS54342.1, CCDS54343.1	2p22.3	2013-05-22			ENSG00000152683	ENSG00000152683		"""Solute carriers"""	19305	protein-coding gene	gene with protein product		611148					Standard	NM_017964		Approved	FLJ31101, ZNT6	uc002rof.2	Q6NXT4	OTTHUMG00000128456	ENST00000282587.5:c.375C>T	2.37:g.32417996C>T		75	1		54	23	NM_001193513	0	0	0	0	0	A5YM45|B7Z901|Q8N5C9|Q96NC3	Silent	SNP	ENST00000282587.5	37	CCDS1780.1																																																																																			.		0.244	SLC30A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250254.2		
CRIM1	51232	broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	36740805	36740805	+	Silent	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:36740805C>T	ENST00000280527.2	+	11	2254	c.1887C>T	c.(1885-1887)tgC>tgT	p.C629C	RP11-78I14.1_ENST00000609765.1_RNA	NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	629	VWFC 3. {ECO:0000255|PROSITE- ProRule:PRU00220}.				insulin-like growth factor receptor signaling pathway (GO:0048009)|nervous system development (GO:0007399)|regulation of cell growth (GO:0001558)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	insulin-like growth factor-activated receptor activity (GO:0005010)|PDZ domain binding (GO:0030165)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				GCCGGGAATGCTACTGTCTCA	0.582																																					p.C629C		.											.	CRIM1-118	0			c.C1887T						.						94.0	87.0	89.0					2																	36740805		2203	4300	6503	SO:0001819	synonymous_variant	51232	exon11			GGAATGCTACTGT	AF168681	CCDS1783.1	2p21	2010-06-29	2005-07-25		ENSG00000150938	ENSG00000150938			2359	protein-coding gene	gene with protein product		606189	"""cysteine-rich motor neuron 1"""	S52		10642437	Standard	NM_016441		Approved		uc002rpd.3	Q9NZV1	OTTHUMG00000099419	ENST00000280527.2:c.1887C>T	2.37:g.36740805C>T		209	2		200	87	NM_016441	0	0	12	13	1	Q2M2G4|Q59GH0|Q7LCQ5|Q9H318	Silent	SNP	ENST00000280527.2	37	CCDS1783.1																																																																																			.		0.582	CRIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216878.2	NM_016441	
STRN	6801	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	37096725	37096725	+	Missense_Mutation	SNP	T	T	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:37096725T>A	ENST00000263918.4	-	11	1479	c.1471A>T	c.(1471-1473)Aat>Tat	p.N491Y	STRN_ENST00000379213.2_Missense_Mutation_p.N442Y|RNU6-577P_ENST00000516947.1_RNA	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN	striatin, calmodulin binding protein	491					dendrite development (GO:0016358)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|tight junction assembly (GO:0070830)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|estrogen receptor binding (GO:0030331)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				TTCTGTAAATTCCACATTTTT	0.343																																					p.N491Y		.											.	STRN-91	0			c.A1471T						.						66.0	61.0	63.0					2																	37096725		2203	4300	6503	SO:0001583	missense	6801	exon11			GTAAATTCCACAT	AJ223814	CCDS1784.1	2p22.2	2013-01-10	2001-11-28		ENSG00000115808	ENSG00000115808		"""WD repeat domain containing"""	11424	protein-coding gene	gene with protein product		614765	"""striatin, calmodulin-binding protein"""			9693043, 8769426	Standard	NM_003162		Approved	SG2NA	uc002rpn.3	O43815	OTTHUMG00000100959	ENST00000263918.4:c.1471A>T	2.37:g.37096725T>A	ENSP00000263918:p.Asn491Tyr	72	0		95	44	NM_003162	0	0	9	17	8	Q3KP65|Q53TQ8|Q9NP38	Missense_Mutation	SNP	ENST00000263918.4	37	CCDS1784.1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.642986	0.87859	.	.	ENSG00000115808	ENST00000263918;ENST00000538092;ENST00000379213	T;T	0.61627	0.09;0.09	5.28	5.28	0.74379	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.73257	0.3564	M	0.64404	1.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.987;0.992	T	0.76597	-0.2901	10	0.87932	D	0	-25.7456	15.2237	0.73333	0.0:0.0:0.0:1.0	.	442;491	O43815-2;O43815	.;STRN_HUMAN	Y	491;466;442	ENSP00000263918:N491Y;ENSP00000368513:N442Y	ENSP00000263918:N491Y	N	-	1	0	STRN	36950229	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.031000	0.88826	1.997000	0.58415	0.477000	0.44152	AAT	.		0.343	STRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218568.1		
ABCG5	64240	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	2	44047175	44047175	+	Frame_Shift_Del	DEL	G	G	-	rs199984328	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:44047175delG	ENST00000260645.1	-	11	1667	c.1528delC	c.(1528-1530)cacfs	p.H510fs	ABCG5_ENST00000543989.1_Frame_Shift_Del_p.H115fs|ABCG5_ENST00000405322.1_Frame_Shift_Del_p.H339fs	NM_022436.2	NP_071881.1	Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	510	ABC transmembrane type-2.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	CCAATTAAGTGGGGGGCCAAG	0.463																																					p.H510fs		.											.	ABCG5-92	0			c.1528delC	GRCh37	CM074664	ABCG5	M		.						73.0	74.0	74.0					2																	44047175		2203	4300	6503	SO:0001589	frameshift_variant	64240	exon11			TTAAGTGGGGGGC	T93792	CCDS1814.1	2p21	2012-03-14	2008-07-31		ENSG00000138075	ENSG00000138075		"""ATP binding cassette transporters / subfamily G"""	13886	protein-coding gene	gene with protein product	"""sterolin 1"""	605459				11099417, 11452359	Standard	NM_022436		Approved	STSL	uc002rtn.3	Q9H222	OTTHUMG00000128758	ENST00000260645.1:c.1528delC	2.37:g.44047175delG	ENSP00000260645:p.His510fs	233	0		243	107	NM_022436	0	0	0	0	0	Q2T9G2|Q96QZ2|Q96QZ3	Frame_Shift_Del	DEL	ENST00000260645.1	37	CCDS1814.1																																																																																			.		0.463	ABCG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250675.1	NM_022436	
LRPPRC	10128	hgsc.bcm.edu;bcgsc.ca	37	2	44145165	44145165	+	Splice_Site	DEL	T	T	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:44145165delT	ENST00000260665.7	-	29	3204	c.3147delA	c.(3145-3147)aaa>aa	p.K1049fs		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	1049					mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TGTGCTTGCCTTTTTTTTGGT	0.453																																					p.K1049fs		.											.	LRPPRC-93	0			c.3147delA						.						91.0	89.0	90.0					2																	44145165		2203	4300	6503	SO:0001630	splice_region_variant	10128	exon29			CTTGCCTTTTTTT	M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"""Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"""	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.3148+1A>-	2.37:g.44145165delT		75	0		78	38	NM_133259	0	0	0	0	0	A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Frame_Shift_Del	DEL	ENST00000260665.7	37	CCDS33189.1																																																																																			.		0.453	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327823.1	NM_133259	Frame_Shift_Del
ATP6V1E2	90423	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	46739273	46739273	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:46739273G>A	ENST00000306448.4	-	2	1691	c.578C>T	c.(577-579)tCa>tTa	p.S193L	ATP6V1E2_ENST00000522587.1_Missense_Mutation_p.S193L	NM_080653.3	NP_542384.1	Q96A05	VATE2_HUMAN	ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E2	193					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|proton-transporting two-sector ATPase complex, catalytic domain (GO:0033178)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.151)			CAAGGTATTTGAAACCTTTAT	0.448																																					p.S193L		.											.	ATP6V1E2-70	0			c.C578T						.						125.0	128.0	127.0					2																	46739273		2203	4300	6503	SO:0001583	missense	90423	exon2			GTATTTGAAACCT	BC008981	CCDS1826.1	2p21	2011-02-10	2006-01-13	2002-06-21	ENSG00000250565	ENSG00000250565		"""ATPases / V-type"""	18125	protein-coding gene	gene with protein product			"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) 31kD-like 2"", ""ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E isoform 2"""	ATP6EL2, ATP6V1EL2		12036578	Standard	NM_080653		Approved	MGC9341, VMA4, ATP6E1	uc002ruy.3	Q96A05	OTTHUMG00000128819	ENST00000306448.4:c.578C>T	2.37:g.46739273G>A	ENSP00000304891:p.Ser193Leu	80	0		111	41	NM_080653	0	0	4	6	2		Missense_Mutation	SNP	ENST00000306448.4	37	CCDS1826.1	.	.	.	.	.	.	.	.	.	.	G	11.44	1.640456	0.29157	.	.	ENSG00000250565	ENST00000306448;ENST00000522587	.	.	.	4.18	2.32	0.28847	.	0.189481	0.47852	D	0.000213	T	0.59662	0.2210	M	0.87758	2.905	0.52099	D	0.999941	P	0.41848	0.763	B	0.42163	0.378	T	0.60156	-0.7318	9	0.54805	T	0.06	-2.1179	5.6045	0.17371	0.1071:0.2015:0.6914:0.0	.	193	Q96A05	VATE2_HUMAN	L	193	.	ENSP00000304891:S193L	S	-	2	0	ATP6V1E2	46592777	1.000000	0.71417	0.995000	0.50966	0.469000	0.32828	3.366000	0.52343	0.675000	0.31264	-0.142000	0.14014	TCA	.		0.448	ATP6V1E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250753.1	NM_080653	
PSME4	23198	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	54152700	54152700	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:54152700G>A	ENST00000404125.1	-	14	1840	c.1785C>T	c.(1783-1785)acC>acT	p.T595T	PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	595					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TGGAACATTGGGTGAGGATTG	0.343																																					p.T595T		.											.	PSME4-275	0			c.C1785T						.						138.0	126.0	130.0					2																	54152700		2203	4300	6503	SO:0001819	synonymous_variant	23198	exon14			ACATTGGGTGAGG	D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"""Proteasome (prosome, macropain) subunits"""	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.1785C>T	2.37:g.54152700G>A		119	0		121	57	NM_014614	0	0	20	31	11	Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Silent	SNP	ENST00000404125.1	37	CCDS33197.2																																																																																			.		0.343	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158	
FAM161A	84140	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	62067294	62067294	+	Missense_Mutation	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:62067294A>G	ENST00000405894.3	-	3	946	c.845T>C	c.(844-846)tTc>tCc	p.F282S	FAM161A_ENST00000404929.1_Missense_Mutation_p.F282S	NM_032180.2	NP_115556.2	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	282					cilium assembly (GO:0042384)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ATTGGCTCGGAATTTCTTCTT	0.388																																					p.F282S		.											.	FAM161A-136	0			c.T845C						.						159.0	146.0	150.0					2																	62067294		1839	4087	5926	SO:0001583	missense	84140	exon3			GCTCGGAATTTCT		CCDS42687.2, CCDS56120.1	2p15	2011-03-15			ENSG00000170264	ENSG00000170264			25808	protein-coding gene	gene with protein product		613596	"""retinitis pigmentosa 28 (autosomal recessive)"""	RP28		10507729, 20705278, 20705279	Standard	NM_032180		Approved	FLJ13305	uc002sbm.4	Q3B820	OTTHUMG00000152165	ENST00000405894.3:c.845T>C	2.37:g.62067294A>G	ENSP00000385893:p.Phe282Ser	55	0		51	29	NM_032180	0	0	2	2	0	B4DJV7|Q9H8R2	Missense_Mutation	SNP	ENST00000405894.3	37	CCDS42687.2	.	.	.	.	.	.	.	.	.	.	A	24.2	4.506273	0.85282	.	.	ENSG00000170264	ENST00000404929;ENST00000405894	T;T	0.44482	0.92;0.92	5.28	5.28	0.74379	.	0.049983	0.85682	D	0.000000	T	0.69886	0.3161	M	0.88105	2.93	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.77013	-0.2745	10	0.87932	D	0	-6.9261	14.893	0.70623	1.0:0.0:0.0:0.0	.	282;282	Q3B820;Q3B820-3	F161A_HUMAN;.	S	282	ENSP00000385158:F282S;ENSP00000385893:F282S	ENSP00000385158:F282S	F	-	2	0	FAM161A	61920798	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.491000	0.90468	1.981000	0.57761	0.460000	0.39030	TTC	.		0.388	FAM161A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000325537.2	NM_032180	
AFTPH	54812	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	64780103	64780103	+	Missense_Mutation	SNP	G	G	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:64780103G>T	ENST00000422803.1	+	2	1809	c.1495G>T	c.(1495-1497)Gac>Tac	p.D499Y	AFTPH_ENST00000409183.1_Missense_Mutation_p.D130Y|AFTPH_ENST00000238856.4_Missense_Mutation_p.D499Y|AFTPH_ENST00000487769.1_3'UTR|AFTPH_ENST00000409933.1_Missense_Mutation_p.D499Y|AFTPH_ENST00000238855.7_Missense_Mutation_p.D499Y			Q6ULP2	AFTIN_HUMAN	aftiphilin	499					protein transport (GO:0015031)	AP-1 adaptor complex (GO:0030121)|cytosol (GO:0005829)	clathrin binding (GO:0030276)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						AACAAAGTCAGACCTAAAACA	0.373																																					p.D499Y		.											.	AFTPH-70	0			c.G1495T						.						88.0	91.0	90.0					2																	64780103		2203	4300	6503	SO:0001583	missense	54812	exon2			AAGTCAGACCTAA	AB073356	CCDS1878.1, CCDS46303.1	2p14	2008-02-05			ENSG00000119844	ENSG00000119844			25951	protein-coding gene	gene with protein product						14665628, 15758025, 15811338	Standard	NM_017657		Approved	MGC33965, FLJ20080, FLJ23793, Nbla10388	uc002scz.3	Q6ULP2	OTTHUMG00000129539	ENST00000422803.1:c.1495G>T	2.37:g.64780103G>T	ENSP00000397726:p.Asp499Tyr	78	1		55	22	NM_017657	0	0	5	9	4	D6W5E9|Q6ZM66|Q86VW3|Q8TCF3|Q9H7E3|Q9HAB9|Q9NXS4	Missense_Mutation	SNP	ENST00000422803.1	37		.	.	.	.	.	.	.	.	.	.	G	13.06	2.123406	0.37436	.	.	ENSG00000119844	ENST00000238856;ENST00000422803;ENST00000238855;ENST00000409933;ENST00000409183	T;T;T;T;T	0.52754	1.68;1.67;1.67;1.67;0.65	5.76	3.97	0.46021	.	0.244489	0.40222	N	0.001156	T	0.57562	0.2062	M	0.62723	1.935	0.37419	D	0.913541	P;P;D;D	0.60575	0.731;0.731;0.988;0.988	P;P;P;P	0.56700	0.549;0.549;0.804;0.804	T	0.65409	-0.6175	10	0.72032	D	0.01	-0.2913	10.8329	0.46671	0.2113:0.0:0.7887:0.0	.	499;499;499;499	Q6ULP2;Q6ULP2-2;Q6ULP2-5;Q6ULP2-4	AFTIN_HUMAN;.;.;.	Y	499;499;499;499;130	ENSP00000238856:D499Y;ENSP00000397726:D499Y;ENSP00000238855:D499Y;ENSP00000387071:D499Y;ENSP00000386913:D130Y	ENSP00000238855:D499Y	D	+	1	0	AFTPH	64633607	1.000000	0.71417	0.988000	0.46212	0.882000	0.50991	2.929000	0.48916	0.895000	0.36342	0.650000	0.86243	GAC	.		0.373	AFTPH-202	KNOWN	basic	protein_coding	protein_coding		NM_017657	
WDR92	116143	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	2	68368892	68368892	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:68368892C>T	ENST00000295121.6	-	4	567	c.451G>A	c.(451-453)Gat>Aat	p.D151N	RP11-474G23.1_ENST00000406334.3_3'UTR|WDR92_ENST00000409164.1_Missense_Mutation_p.D151N|WDR92_ENST00000492039.2_5'UTR|WDR92_ENST00000406245.2_Missense_Mutation_p.D50N	NM_138458.3	NP_612467.1	Q96MX6	WDR92_HUMAN	WD repeat domain 92	151					apoptotic process (GO:0006915)|histone lysine methylation (GO:0034968)		methylated histone binding (GO:0035064)			endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|stomach(1)	12						GCAACAGGATCATCTTTTTGC	0.358																																					p.D151N		.											.	WDR92-68	0			c.G451A						.						218.0	206.0	210.0					2																	68368892		2203	4300	6503	SO:0001583	missense	116143	exon4			CAGGATCATCTTT	AK056303	CCDS1884.1, CCDS58712.1	2p14	2013-01-09			ENSG00000243667	ENSG00000243667		"""WD repeat domain containing"""	25176	protein-coding gene	gene with protein product		610729				16487927	Standard	NM_138458		Approved	FLJ31741, Monad	uc002see.2	Q96MX6	OTTHUMG00000152561	ENST00000295121.6:c.451G>A	2.37:g.68368892C>T	ENSP00000295121:p.Asp151Asn	170	0		158	10	NM_001256476	0	0	17	18	1	Q96CR6	Missense_Mutation	SNP	ENST00000295121.6	37	CCDS1884.1	.	.	.	.	.	.	.	.	.	.	C	13.93	2.383089	0.42207	.	.	ENSG00000243667	ENST00000295121;ENST00000406245;ENST00000409164	T;T;T	0.65178	1.62;1.62;-0.14	5.71	4.61	0.57282	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.402514	0.23585	N	0.046616	T	0.34164	0.0888	N	0.08118	0	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.29549	-1.0008	10	0.20046	T	0.44	.	4.2483	0.10682	0.0:0.6963:0.0:0.3037	.	151	Q96MX6	WDR92_HUMAN	N	151;50;151	ENSP00000295121:D151N;ENSP00000384518:D50N;ENSP00000386746:D151N	ENSP00000295121:D151N	D	-	1	0	WDR92	68222396	0.975000	0.34042	1.000000	0.80357	0.976000	0.68499	3.352000	0.52239	2.861000	0.98227	0.650000	0.86243	GAT	.		0.358	WDR92-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251754.2	NM_138458	
AAK1	22848	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	69746290	69746290	+	Silent	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:69746290A>G	ENST00000409085.4	-	12	1669	c.1293T>C	c.(1291-1293)acT>acC	p.T431T	AAK1_ENST00000409068.1_Silent_p.T431T|SNORA36C_ENST00000384289.1_RNA|AAK1_ENST00000406297.3_Silent_p.T431T|RN7SL604P_ENST00000492589.2_RNA	NM_014911.3	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	431	Gln-rich.				endocytosis (GO:0006897)|positive regulation of Notch signaling pathway (GO:0045747)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of clathrin-mediated endocytosis (GO:2000369)|regulation of protein localization (GO:0032880)	cell leading edge (GO:0031252)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extrinsic component of plasma membrane (GO:0019897)|terminal bouton (GO:0043195)	AP-2 adaptor complex binding (GO:0035612)|ATP binding (GO:0005524)|Notch binding (GO:0005112)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						GCTTGGCCTGAGTTTGCGGCA	0.617																																					p.T431T		.											.	AAK1-333	0			c.T1293C						.						27.0	36.0	33.0					2																	69746290		2063	4213	6276	SO:0001819	synonymous_variant	22848	exon12			GGCCTGAGTTTGC	AB028971	CCDS1893.2	2p13.3	2012-07-10			ENSG00000115977	ENSG00000115977			19679	protein-coding gene	gene with protein product						11877461, 12471243	Standard	NM_014911		Approved	KIAA1048, DKFZp686K16132	uc002sfp.2	Q2M2I8	OTTHUMG00000129648	ENST00000409085.4:c.1293T>C	2.37:g.69746290A>G		80	0		102	43	NM_014911	0	0	3	11	8	Q4ZFZ3|Q53RX6|Q9UPV4	Silent	SNP	ENST00000409085.4	37	CCDS1893.2																																																																																			.		0.617	AAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251847.4	NM_014911	
EXOC6B	23233	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	72742236	72742236	+	Missense_Mutation	SNP	T	T	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:72742236T>A	ENST00000272427.6	-	9	1065	c.935A>T	c.(934-936)gAg>gTg	p.E312V	EXOC6B_ENST00000410104.1_Missense_Mutation_p.E312V	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	312					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						GTAGTAATTCTCAAATGTTTC	0.398																																					p.E312V		.											.	EXOC6B-68	0			c.A935T						.						69.0	69.0	69.0					2																	72742236		1841	4087	5928	SO:0001583	missense	23233	exon9			TAATTCTCAAATG	AB023136	CCDS46333.1	2p13.2	2013-01-22	2006-11-07	2006-11-07	ENSG00000144036	ENSG00000144036			17085	protein-coding gene	gene with protein product		607880	"""SEC15-like 2 (S. cerevisiae)"", ""SEC15 homolog B (S. cerevisiae)"""	SEC15L2, SEC15B		10231032, 11406615	Standard	NM_015189		Approved	KIAA0919	uc010fep.3	Q9Y2D4	OTTHUMG00000152723	ENST00000272427.6:c.935A>T	2.37:g.72742236T>A	ENSP00000272427:p.Glu312Val	74	0		88	46	NM_015189	0	0	6	20	14	B8ZZY3	Missense_Mutation	SNP	ENST00000272427.6	37	CCDS46333.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.373962	0.82573	.	.	ENSG00000144036	ENST00000272427;ENST00000410104;ENST00000290144	T;T	0.30714	1.52;1.52	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.58119	0.2100	M	0.86178	2.8	0.80722	D	1	D;D	0.65815	0.981;0.995	D;D	0.69824	0.966;0.963	T	0.63708	-0.6576	10	0.52906	T	0.07	.	13.7186	0.62712	0.0:0.0:0.0:1.0	.	312;312	Q9Y2D4;Q9Y2D4-2	EXC6B_HUMAN;.	V	312	ENSP00000272427:E312V;ENSP00000386698:E312V	ENSP00000272427:E312V	E	-	2	0	EXOC6B	72595744	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.726000	0.84824	2.102000	0.63906	0.528000	0.53228	GAG	.		0.398	EXOC6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327558.1	XM_039570	
EGR4	1961	broad.mit.edu;mdanderson.org	37	2	73518917	73518917	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:73518917C>T	ENST00000545030.1	-	2	1512	c.1438G>A	c.(1438-1440)Gcc>Acc	p.A480T	EGR4_ENST00000436467.2_Missense_Mutation_p.A377T	NM_001965.3	NP_001956.3	Q05215	EGR4_HUMAN	early growth response 4	480					cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						AAGGCCTTGGCGTGCGGCCGC	0.716																																					p.A480T		.											.	EGR4-90	0			c.G1438A						.						17.0	17.0	17.0					2																	73518917		2199	4297	6496	SO:0001583	missense	1961	exon2			CCTTGGCGTGCGG		CCDS1925.2	2p13	2013-01-08			ENSG00000135625	ENSG00000135625		"""Zinc fingers, C2H2-type"""	3241	protein-coding gene	gene with protein product		128992				1584812	Standard	NM_001965		Approved	NGFI-C, PAT133	uc010yrj.2	Q05215	OTTHUMG00000129774	ENST00000545030.1:c.1438G>A	2.37:g.73518917C>T	ENSP00000445626:p.Ala480Thr	8	0		30	15	NM_001965	0	0	0	0	0	B2RAE3|G3V1T5|Q2Z1P5	Missense_Mutation	SNP	ENST00000545030.1	37	CCDS1925.2	.	.	.	.	.	.	.	.	.	.	C	17.89	3.499579	0.64298	.	.	ENSG00000135625	ENST00000545030;ENST00000436467	T;T	0.14266	2.52;2.84	4.79	3.9	0.45041	.	0.371949	0.22576	N	0.058264	T	0.06962	0.0177	N	0.08118	0	0.28791	N	0.899298	P;P	0.40931	0.614;0.733	B;B	0.33339	0.078;0.162	T	0.08086	-1.0739	10	0.72032	D	0.01	-5.9107	13.1801	0.59649	0.161:0.839:0.0:0.0	.	377;480	Q05215;G3V1T5	EGR4_HUMAN;.	T	480;377	ENSP00000445626:A480T;ENSP00000419687:A377T	ENSP00000419687:A377T	A	-	1	0	EGR4	73372425	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	4.549000	0.60726	1.220000	0.43490	0.655000	0.94253	GCC	.		0.716	EGR4-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001965	
ALMS1	7840	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	73717935	73717935	+	Missense_Mutation	SNP	C	C	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:73717935C>A	ENST00000264448.6	+	10	8957	c.8846C>A	c.(8845-8847)cCt>cAt	p.P2949H	AC096546.1_ENST00000408160.1_RNA|ALMS1_ENST00000409009.1_Missense_Mutation_p.P2907H	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2949					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TCTCCCCTTCCTCAAGGTCAG	0.428																																					p.P2949H		.											.	ALMS1-142	0			c.C8846A						.						169.0	156.0	160.0					2																	73717935		1879	4103	5982	SO:0001583	missense	7840	exon10			CCCTTCCTCAAGG	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.8846C>A	2.37:g.73717935C>A	ENSP00000264448:p.Pro2949His	48	0		57	27	NM_015120	0	0	2	4	2	Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	c	9.499	1.102607	0.20632	.	.	ENSG00000116127	ENST00000409009;ENST00000264448	T;T	0.14893	2.48;2.47	4.78	2.99	0.34606	.	0.600319	0.15197	N	0.275244	T	0.30978	0.0782	L	0.54323	1.7	0.09310	N	0.999999	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.66351	0.943;0.943;0.943	T	0.04373	-1.0956	10	0.87932	D	0	.	7.3369	0.26615	0.0:0.8069:0.0:0.1931	.	2949;2907;2949	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	H	2907;2949	ENSP00000386627:P2907H;ENSP00000264448:P2949H	ENSP00000264448:P2949H	P	+	2	0	ALMS1	73571443	0.037000	0.19845	0.007000	0.13788	0.191000	0.23601	0.547000	0.23299	0.935000	0.37341	0.650000	0.86243	CCT	.		0.428	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120	
C2orf81	388963	broad.mit.edu	37	2	74642280	74642280	+	Missense_Mutation	SNP	T	T	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:74642280T>G	ENST00000517883.1	-	1	1430	c.739A>C	c.(739-741)Acc>Ccc	p.T247P	C2orf81_ENST00000290390.5_Missense_Mutation_p.T315P			A6NN90	CB081_HUMAN	chromosome 2 open reading frame 81	308										endometrium(3)|kidney(1)	4						GAGGGGCGGGTGGCGCCGCCC	0.716																																					p.T315P		.											.	.	0			c.A943C						.						7.0	10.0	9.0					2																	74642280		682	1575	2257	SO:0001583	missense	388963	exon4			GGCGGGTGGCGCC	AC005041, CH471053		2p13.1	2012-08-07			ENSG00000159239	ENSG00000159239			34350	protein-coding gene	gene with protein product						15815621	Standard	NM_001145054		Approved	LOC388963, hCG40743	uc010yrq.1	A6NN90	OTTHUMG00000164184	ENST00000517883.1:c.739A>C	2.37:g.74642280T>G	ENSP00000431103:p.Thr247Pro	65	5		188	50	NM_001145054	0	0	5	5	0		Missense_Mutation	SNP	ENST00000517883.1	37		.	.	.	.	.	.	.	.	.	.	t	12.14	1.849844	0.32699	.	.	ENSG00000159239	ENST00000517883;ENST00000290390	.	.	.	3.91	-3.99	0.04069	.	1.321610	0.05237	N	0.511487	T	0.30135	0.0755	L	0.44542	1.39	0.09310	N	1	B	0.19073	0.033	B	0.22601	0.04	T	0.39396	-0.9616	9	0.72032	D	0.01	-3.9874	1.2321	0.01946	0.1409:0.2887:0.2874:0.283	.	315	G3XAA6	.	P	247;315	.	ENSP00000290390:T315P	T	-	1	0	C2orf81	74495788	0.007000	0.16637	0.000000	0.03702	0.008000	0.06430	0.309000	0.19332	-0.435000	0.07264	0.454000	0.30748	ACC	.		0.716	C2orf81-002	PUTATIVE	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000377683.1	NM_001145054	
CCDC142	84865	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	74709403	74709403	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:74709403C>T	ENST00000393965.3	-	1	958	c.562G>A	c.(562-564)Gct>Act	p.A188T	CCDC142_ENST00000290418.4_Missense_Mutation_p.A188T|TTC31_ENST00000410003.1_5'Flank|TTC31_ENST00000442235.2_5'Flank|TTC31_ENST00000233623.5_5'Flank|CCDC142_ENST00000471713.1_Intron	NM_032779.3	NP_116168.3	Q17RM4	CC142_HUMAN	coiled-coil domain containing 142	188										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						CGGCCGAGAGCGCGAAGCTGC	0.667																																					p.A188T		.											.	CCDC142-68	0			c.G562A						.						20.0	29.0	26.0					2																	74709403		2196	4296	6492	SO:0001583	missense	84865	exon1			CGAGAGCGCGAAG	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.562G>A	2.37:g.74709403C>T	ENSP00000377537:p.Ala188Thr	106	1		163	73	NM_032779	0	0	0	1	1	B7ZKV5|Q8NBJ3|Q8NBV2|Q96KA7	Missense_Mutation	SNP	ENST00000393965.3	37		.	.	.	.	.	.	.	.	.	.	C	10.33	1.319327	0.23994	.	.	ENSG00000135637	ENST00000393965;ENST00000290418	T;T	0.08896	3.04;3.04	4.4	0.871	0.19107	.	0.538297	0.16967	N	0.192248	T	0.05731	0.0150	L	0.36672	1.1	0.09310	N	1	B;B;B	0.17268	0.021;0.021;0.021	B;B;B	0.12837	0.008;0.008;0.008	T	0.36138	-0.9760	10	0.33940	T	0.23	-0.0089	3.5328	0.07784	0.3589:0.4686:0.0:0.1724	.	188;188;188	Q17RM4;Q17RM4-2;Q17RM4-3	CC142_HUMAN;.;.	T	188	ENSP00000377537:A188T;ENSP00000290418:A188T	ENSP00000290418:A188T	A	-	1	0	CCDC142	74562911	0.000000	0.05858	0.004000	0.12327	0.387000	0.30353	-0.092000	0.11129	0.038000	0.15604	0.561000	0.74099	GCT	.		0.667	CCDC142-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000328391.1	NM_032779	
TTC31	64427	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	74720124	74720124	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:74720124G>A	ENST00000233623.5	+	13	1346	c.1339G>A	c.(1339-1341)Gca>Aca	p.A447T	TTC31_ENST00000410003.1_3'UTR|TTC31_ENST00000442235.2_Intron	NM_022492.4	NP_071937.4	Q49AM3	TTC31_HUMAN	tetratricopeptide repeat domain 31	447										breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						TGCTGAGCTGGCACCCTCAGG	0.607																																					p.A447T		.											.	TTC31-90	0			c.G1339A						.						129.0	138.0	135.0					2																	74720124		2117	4243	6360	SO:0001583	missense	64427	exon13			GAGCTGGCACCCT	AK026819	CCDS42701.1	2p13.1	2013-01-11			ENSG00000115282	ENSG00000115282		"""Tetratricopeptide (TTC) repeat domain containing"""	25759	protein-coding gene	gene with protein product						12477932	Standard	NM_022492		Approved	FLJ12788	uc002slt.2	Q49AM3	OTTHUMG00000152887	ENST00000233623.5:c.1339G>A	2.37:g.74720124G>A	ENSP00000233623:p.Ala447Thr	136	0		187	81	NM_022492	0	0	7	24	17	Q4KN40|Q53FD4|Q9H9F7	Missense_Mutation	SNP	ENST00000233623.5	37	CCDS42701.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.75|12.75	2.030195|2.030195	0.35797|0.35797	.|.	.|.	ENSG00000115282|ENSG00000115282	ENST00000233623|ENST00000414247	T|.	0.61040|.	0.14|.	3.62|3.62	-0.333|-0.333	0.12671|0.12671	.|.	1.309690|.	0.05054|.	N|.	0.478625|.	T|.	0.15739|.	0.0379|.	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;B|.	0.09022|.	0.002;0.001|.	B;B|.	0.09377|.	0.004;0.002|.	T|.	0.29181|.	-1.0020|.	10|.	0.49607|.	T|.	0.09|.	.|.	6.2628|6.2628	0.20910|0.20910	0.4802:0.0:0.5198:0.0|0.4802:0.0:0.5198:0.0	.|.	415;447|.	Q86XF2;Q49AM3|.	.;TTC31_HUMAN|.	T|X	447|173	ENSP00000233623:A447T|.	ENSP00000233623:A447T|.	A|W	+|+	1|3	0|0	TTC31|TTC31	74573632|74573632	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.158000|0.158000	0.22134|0.22134	-0.308000|-0.308000	0.08156|0.08156	-0.201000|-0.201000	0.10284|0.10284	0.484000|0.484000	0.47621|0.47621	GCA|TGG	.		0.607	TTC31-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328422.1	NM_022492	
LOXL3	84695	hgsc.bcm.edu;bcgsc.ca	37	2	74763924	74763924	+	Frame_Shift_Del	DEL	C	C	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:74763924delC	ENST00000264094.3	-	5	895	c.824delG	c.(823-825)ggcfs	p.G275fs	LOXL3_ENST00000409249.1_Frame_Shift_Del_p.G275fs|LOXL3_ENST00000409549.1_Frame_Shift_Del_p.G275fs|LOXL3_ENST00000393937.2_Intron|LOXL3_ENST00000409986.1_Intron|LOXL3_ENST00000484369.1_5'Flank	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	275	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				epithelial to mesenchymal transition (GO:0001837)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)	p.A277fs*57(1)		endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						CACTGCAGGGCCCCCCCCAGG	0.647																																					p.G275fs		.											.	LOXL3-226	1	Insertion - Frameshift(1)	large_intestine(1)	c.824delG						.			25,21,4220		0,0,25,6,9,2093	73.0	80.0	77.0			1.4	0.5	2		79	27,26,8201		0,0,27,10,6,4084	no	codingComplex	LOXL3	NM_032603.2		0,0,52,16,15,6177	A1A1,A1A2,A1R,A2A2,A2R,RR		0.6421,1.0783,0.7907			74763924	52,47,12421	2203	4300	6503	SO:0001589	frameshift_variant	84695	exon5			GCAGGGCCCCCCC	AF282619	CCDS1953.1, CCDS74527.1	2p13	2008-05-23			ENSG00000115318	ENSG00000115318			13869	protein-coding gene	gene with protein product		607163				11386757	Standard	NM_032603		Approved		uc002smp.1	P58215	OTTHUMG00000129953	ENST00000264094.3:c.824delG	2.37:g.74763924delC	ENSP00000264094:p.Gly275fs	131	1		194	83	NM_032603	0	0	0	0	0	D6W5J1|Q2EHP2|Q6IPL7|Q96RS1	Frame_Shift_Del	DEL	ENST00000264094.3	37	CCDS1953.1																																																																																			.		0.647	LOXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252215.1	NM_032603	
HK2	3099	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	75104357	75104357	+	Missense_Mutation	SNP	G	G	A	rs28363015	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:75104357G>A	ENST00000290573.2	+	8	1540	c.940G>A	c.(940-942)Gcc>Acc	p.A314T	HK2_ENST00000409174.1_Missense_Mutation_p.A286T	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	314	Hexokinase type-2 1.|Regulatory.		A -> P (in dbSNP:rs28363015). {ECO:0000269|Ref.4}.|A -> V. {ECO:0000269|PubMed:7883120}.		apoptotic mitochondrial changes (GO:0008637)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|lactation (GO:0007595)|regulation of glucose import (GO:0046324)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						GGTGAAGATGGCCAAGGAGGA	0.522																																					p.A314T		.											.	HK2-252	0			c.G940A						.						201.0	203.0	202.0					2																	75104357		2203	4300	6503	SO:0001583	missense	3099	exon8			AAGATGGCCAAGG		CCDS1956.1	2p13	2010-03-19			ENSG00000159399	ENSG00000159399	2.7.1.1		4923	protein-coding gene	gene with protein product		601125					Standard	NM_000189		Approved		uc002snd.3	P52789	OTTHUMG00000129972	ENST00000290573.2:c.940G>A	2.37:g.75104357G>A	ENSP00000290573:p.Ala314Thr	61	1		89	43	NM_000189	0	0	28	67	39	D6W5J2|Q8WU87|Q9UN82	Missense_Mutation	SNP	ENST00000290573.2	37	CCDS1956.1	.	.	.	.	.	.	.	.	.	.	G	17.29	3.353221	0.61293	.	.	ENSG00000159399	ENST00000290573;ENST00000535740;ENST00000409174	T;T	0.11604	2.76;2.76	5.07	4.19	0.49359	Hexokinase, C-terminal (1);	0.203652	0.52532	N	0.000078	T	0.11324	0.0276	L	0.37561	1.115	0.80722	D	1	P	0.40731	0.728	B	0.43658	0.426	T	0.17501	-1.0367	10	0.27082	T	0.32	-23.182	11.3571	0.49621	0.0878:0.0:0.9122:0.0	.	314	P52789	HXK2_HUMAN	T	314;314;286	ENSP00000290573:A314T;ENSP00000387140:A286T	ENSP00000290573:A314T	A	+	1	0	HK2	74957865	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.606000	0.67641	1.503000	0.48686	0.655000	0.94253	GCC	G|0.952;C|0.048		0.522	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252238.2	NM_000189	
DNAH6	1768	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	2	84771614	84771614	+	Missense_Mutation	SNP	T	T	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:84771614T>G	ENST00000237449.6	+	4	928	c.920T>G	c.(919-921)aTt>aGt	p.I307S	DNAH6_ENST00000398278.2_Missense_Mutation_p.I307S|DNAH6_ENST00000389394.3_Missense_Mutation_p.I307S			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	307	Stem. {ECO:0000250}.				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(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						AATTTGTTCATTGTTAATCCT	0.303																																					p.I307S		.											.	DNAH6-69	0			c.T920G						.						15.0	12.0	13.0					2																	84771614		691	1578	2269	SO:0001583	missense	1768	exon5			TGTTCATTGTTAA	U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"""Axonemal dyneins"""	2951	protein-coding gene	gene with protein product		603336	"""dynein, axonemal, heavy polypeptide 6"", ""dynein heavy chain-like 1"""	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.920T>G	2.37:g.84771614T>G	ENSP00000237449:p.Ile307Ser	16	0		33	18	NM_001370	0	0	0	0	0	A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	ENST00000237449.6	37	CCDS46348.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.115480	0.77323	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	T;T;T	0.27890	1.64;1.78;1.64	5.34	5.34	0.76211	.	.	.	.	.	T	0.31009	0.0783	L	0.55834	1.745	0.42417	D	0.992628	B	0.18310	0.027	B	0.23150	0.044	T	0.07443	-1.0772	8	.	.	.	.	14.5886	0.68347	0.0:0.0:0.0:1.0	.	307	Q9C0G6	DYH6_HUMAN	S	307	ENSP00000374045:I307S;ENSP00000381326:I307S;ENSP00000237449:I307S	.	I	+	2	0	DNAH6	84625125	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.794000	0.69067	2.138000	0.66242	0.482000	0.46254	ATT	.		0.303	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328537.2	NM_001370	
IMMT	10989	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	86371958	86371958	+	Nonsense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:86371958C>T	ENST00000410111.3	-	15	2097	c.1710G>A	c.(1708-1710)tgG>tgA	p.W570*	IMMT_ENST00000449247.2_Nonsense_Mutation_p.W559*|IMMT_ENST00000442664.2_Nonsense_Mutation_p.W569*|IMMT_ENST00000254636.5_Nonsense_Mutation_p.W471*|IMMT_ENST00000409051.2_Nonsense_Mutation_p.W523*	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	MIC60_HUMAN	inner membrane protein, mitochondrial	570					mitochondrial calcium ion homeostasis (GO:0051560)|response to cold (GO:0009409)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CCACTGAAAGCCAGAGTTGGT	0.463																																					p.W570X		.											.	IMMT-91	0			c.G1710A						.						64.0	60.0	61.0					2																	86371958		1898	4119	6017	SO:0001587	stop_gained	10989	exon15			TGAAAGCCAGAGT	D21094	CCDS46355.1, CCDS46356.1, CCDS46357.1	2p11.2	2011-10-04	2010-04-29		ENSG00000132305	ENSG00000132305			6047	protein-coding gene	gene with protein product	"""mitofilin"", ""mitochondrial inner membrane organizing system 2"""	600378	"""inner membrane protein, mitochondrial (mitofilin)"""			9168817, 8039717	Standard	NM_001100169		Approved	P87, P89, HMP, MINOS2	uc002sqz.4	Q16891	OTTHUMG00000153170	ENST00000410111.3:c.1710G>A	2.37:g.86371958C>T	ENSP00000387262:p.Trp570*	44	0		63	30	NM_006839	0	0	101	283	182	B1H0U5|B2R5N6|Q14539|Q15092|Q68D41|Q69HW5|Q6IBL0|Q7Z3X1|Q8TAJ5|Q9P0V2	Nonsense_Mutation	SNP	ENST00000410111.3	37	CCDS46355.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.691071|5.691071	0.96793|0.96793	.|.	.|.	ENSG00000132305|ENSG00000132305	ENST00000419070|ENST00000254636;ENST00000449247;ENST00000410111;ENST00000442664;ENST00000409051;ENST00000545283;ENST00000377310;ENST00000409715	.|.	.|.	.|.	5.12|5.12	5.12|5.12	0.69794|0.69794	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.57051|.	0.2027|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.46119|.	-0.9214|.	4|.	.|0.11182	.|T	.|0.66	-5.419|-5.419	18.8056|18.8056	0.92035|0.92035	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	T|X	425|471;559;570;569;523;559;538;471	.|.	.|ENSP00000254636:W471X	A|W	-|-	1|3	0|0	IMMT|IMMT	86225469|86225469	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.602000|7.602000	0.82796|0.82796	2.687000|2.687000	0.91594|0.91594	0.644000|0.644000	0.83932|0.83932	GCT|TGG	.		0.463	IMMT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329909.2	NM_006839	
KDM3A	55818	broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	86711133	86711133	+	Missense_Mutation	SNP	T	T	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:86711133T>A	ENST00000409556.1	+	20	3311	c.2946T>A	c.(2944-2946)caT>caA	p.H982Q	KDM3A_ENST00000542128.1_Missense_Mutation_p.H930Q|KDM3A_ENST00000312912.5_Missense_Mutation_p.H982Q|KDM3A_ENST00000409064.1_Missense_Mutation_p.H982Q			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	982					androgen receptor signaling pathway (GO:0030521)|formaldehyde biosynthetic process (GO:0046293)|histone H3-K9 demethylation (GO:0033169)|histone H3-K9 dimethylation (GO:0036123)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of histone H3-K9 methylation (GO:0051573)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|dioxygenase activity (GO:0051213)|iron ion binding (GO:0005506)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						CTGGAGTGCATCATAAATTGA	0.443																																					p.H982Q	NSCLC(96;1150 1523 6936 46253 49736)	.											.	KDM3A-291	0			c.T2946A						.						93.0	90.0	91.0					2																	86711133		2203	4300	6503	SO:0001583	missense	55818	exon19			AGTGCATCATAAA	AB018285	CCDS1990.1	2p11.2	2011-07-01	2009-04-06	2009-04-06	ENSG00000115548	ENSG00000115548		"""Chromatin-modifying enzymes / K-demethylases"""	20815	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 2A"""	611512	"""jumonji domain containing 1"", ""jumonji domain containing 1A"""	JMJD1, JMJD1A		9872452	Standard	NM_018433		Approved	TSGA, KIAA0742, JHMD2A	uc010ytj.2	Q9Y4C1	OTTHUMG00000130204	ENST00000409556.1:c.2946T>A	2.37:g.86711133T>A	ENSP00000386660:p.His982Gln	109	1		127	53	NM_001146688	1	0	18	24	5	D6W5M3|Q53S72|Q68D47|Q68UT9|Q6N050|Q8IY08	Missense_Mutation	SNP	ENST00000409556.1	37	CCDS1990.1	.	.	.	.	.	.	.	.	.	.	T	16.26	3.073843	0.55646	.	.	ENSG00000115548	ENST00000409556;ENST00000540058;ENST00000312912;ENST00000409064;ENST00000542128	T;T;T;T	0.70282	-0.47;-0.47;-0.47;-0.47	5.82	2.2	0.27929	.	0.000000	0.85682	D	0.000000	T	0.65698	0.2716	L	0.37697	1.125	0.43564	D	0.995881	P;B	0.41546	0.754;0.409	P;B	0.49829	0.623;0.131	T	0.57888	-0.7733	10	0.33940	T	0.23	.	8.1729	0.31264	0.0:0.2944:0.0:0.7056	.	930;982	F5H070;Q9Y4C1	.;KDM3A_HUMAN	Q	982;982;982;982;930	ENSP00000386660:H982Q;ENSP00000323659:H982Q;ENSP00000386516:H982Q;ENSP00000438324:H930Q	ENSP00000323659:H982Q	H	+	3	2	KDM3A	86564644	0.963000	0.33076	1.000000	0.80357	0.997000	0.91878	0.074000	0.14662	0.145000	0.18977	0.533000	0.62120	CAT	.		0.443	KDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252522.2	NM_018433	
CD8B	926	hgsc.bcm.edu	37	2	87088964	87088964	+	Silent	SNP	A	A	G	rs62146888	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:87088964A>G	ENST00000390655.6	-	1	83	c.25T>C	c.(25-27)Ttg>Ctg	p.L9L	CD8B_ENST00000393761.2_Silent_p.L9L|AC111200.1_ENST00000441646.1_5'Flank|CD8B_ENST00000349455.3_Silent_p.L9L|CD8B_ENST00000331469.2_Silent_p.L9L|CD8B_ENST00000431506.2_Silent_p.L9L|CD8B_ENST00000393759.2_Silent_p.L9L	NM_004931.4	NP_004922.1	P10966	CD8B_HUMAN	CD8b molecule	9					immune response (GO:0006955)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|MHC class I protein binding (GO:0042288)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	13						TGCGCGGCCAAGAGGAGCCAC	0.756													G|||	2559	0.510982	0.6626	0.3862	5008	,	,		7474	0.5427		0.4672	False		,,,				2504	0.407				p.L9L		.											.	CD8B-92	0			c.T25C						.						1.0	1.0	1.0					2																	87088964		543	1520	2063	SO:0001819	synonymous_variant	926	exon1			CGGCCAAGAGGAG		CCDS1994.1, CCDS1995.1, CCDS42708.1, CCDS1997.1, CCDS54376.1	2p12	2013-01-11	2006-03-28	2006-03-09	ENSG00000172116	ENSG00000172116		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1707	protein-coding gene	gene with protein product		186730	"""CD8 antigen, beta polypeptide 1 (p37)"""	CD8B1		1541829	Standard	NM_172213		Approved		uc002srw.3	P10966	OTTHUMG00000130264	ENST00000390655.6:c.25T>C	2.37:g.87088964A>G		0	0		7	7	NM_004931	0	0	0	0	0	P14860|P14861|Q15980|Q496E0|Q496E1|Q496E2|Q9UDB4|Q9UDB5|Q9UDB6|Q9UDB7|Q9UDB8|Q9UDB9|Q9UDC0|Q9UQ55	Silent	SNP	ENST00000390655.6	37	CCDS1997.1																																																																																			A|0.476;G|0.524		0.756	CD8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330402.1	NM_172099	
EIF2AK3	9451	broad.mit.edu	37	2	88857349	88857349	+	Frame_Shift_Del	DEL	T	T	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:88857349delT	ENST00000303236.3	-	17	3557	c.3256delA	c.(3256-3258)acafs	p.T1086fs	EIF2AK3_ENST00000419748.1_Frame_Shift_Del_p.T935fs|AC104134.2_ENST00000413234.1_RNA	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	1086					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|bone mineralization (GO:0030282)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|chondrocyte development (GO:0002063)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum organization (GO:0007029)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|fat cell differentiation (GO:0045444)|insulin secretion (GO:0030073)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of myelination (GO:0031642)|negative regulation of translation (GO:0017148)|negative regulation of translational initiation in response to stress (GO:0032057)|ossification (GO:0001503)|positive regulation of protein binding (GO:0032092)|positive regulation of signal transduction (GO:0009967)|protein autophosphorylation (GO:0046777)|protein homooligomerization (GO:0051260)|protein phosphorylation (GO:0006468)|regulation of fatty acid metabolic process (GO:0019217)|response to endoplasmic reticulum stress (GO:0034976)|skeletal system development (GO:0001501)|SREBP signaling pathway (GO:0032933)|translation (GO:0006412)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)			ovary(3)	3						CTGAGCACTGTTTTTCCTGGA	0.453																																					p.T1086fs	GBM(138;671 1851 16235 39058 45249)	.											.	EIF2AK3-361	0			c.3256delA						.						249.0	235.0	240.0					2																	88857349		2203	4300	6503	SO:0001589	frameshift_variant	9451	exon17			GCACTGTTTTTCC	AF110146	CCDS33241.1	2p12	2008-05-21			ENSG00000172071	ENSG00000172071			3255	protein-coding gene	gene with protein product		604032				10026192, 10575235	Standard	NM_004836		Approved	PEK, PERK	uc002stc.4	Q9NZJ5	OTTHUMG00000155046	ENST00000303236.3:c.3256delA	2.37:g.88857349delT	ENSP00000307235:p.Thr1086fs	163	0		275	7	NM_004836	0	0	0	0	0	A0AVH1|A0AVH2|B2RCU9|O95846|Q53QY0|Q53SB1	Frame_Shift_Del	DEL	ENST00000303236.3	37	CCDS33241.1																																																																																			.		0.453	EIF2AK3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000338233.2	NM_004836	
ANKRD39	51239	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	97519168	97519168	+	Silent	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:97519168C>T	ENST00000393537.4	-	3	485	c.378G>A	c.(376-378)gtG>gtA	p.V126V		NM_016466.5	NP_057550.3	Q53RE8	ANR39_HUMAN	ankyrin repeat domain 39	126										NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)	6						CGTCGTCATCCACCACCCTGG	0.537																																					p.V126V		.											.	ANKRD39-44	0			c.G378A						.						38.0	28.0	31.0					2																	97519168		2200	4298	6498	SO:0001819	synonymous_variant	51239	exon3			GTCATCCACCACC	BC031303	CCDS2028.1	2q11.2	2013-01-10			ENSG00000213337	ENSG00000213337		"""Ankyrin repeat domain containing"""	28640	protein-coding gene	gene with protein product						11042152	Standard	NM_016466		Approved	MGC41816	uc002sxd.4	Q53RE8	OTTHUMG00000130530	ENST00000393537.4:c.378G>A	2.37:g.97519168C>T		136	0		167	73	NM_016466	0	0	3	12	9	Q59FU2|Q8N5X5|Q9P0S5	Silent	SNP	ENST00000393537.4	37	CCDS2028.1																																																																																			.		0.537	ANKRD39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252951.2	NM_016466	
ZAP70	7535	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	2	98340777	98340777	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:98340777G>A	ENST00000264972.5	+	3	493	c.278G>A	c.(277-279)gGg>gAg	p.G93E	ZAP70_ENST00000442208.1_5'Flank	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	93	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|beta selection (GO:0043366)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative thymic T cell selection (GO:0045060)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell activation (GO:0042110)|T cell aggregation (GO:0070489)|T cell differentiation (GO:0030217)|T cell migration (GO:0072678)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						GACCCCGACGGGCTGCCCTGC	0.697																																					p.G93E		.											.	ZAP70-955	0			c.G278A						.						10.0	11.0	10.0					2																	98340777		2168	4247	6415	SO:0001583	missense	7535	exon3			CCGACGGGCTGCC	L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085		"""SH2 domain containing"""	12858	protein-coding gene	gene with protein product		176947	"""zeta-chain (TCR) associated protein kinase (70 kD)"""	SRK		1423621	Standard	NM_001079		Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.278G>A	2.37:g.98340777G>A	ENSP00000264972:p.Gly93Glu	13	0		122	66	NM_001079	0	0	0	0	0	A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Missense_Mutation	SNP	ENST00000264972.5	37	CCDS33254.1	.	.	.	.	.	.	.	.	.	.	G	16.10	3.026897	0.54683	.	.	ENSG00000115085	ENST00000264972	T	0.29655	1.56	4.9	4.01	0.46588	SH2 motif (3);	0.123638	0.36167	N	0.002748	T	0.42040	0.1185	M	0.87038	2.855	0.80722	D	1	P;P	0.46987	0.888;0.754	B;B	0.42593	0.392;0.134	T	0.54840	-0.8233	10	0.87932	D	0	.	12.528	0.56098	0.0:0.0:0.8317:0.1683	.	93;93	B4E0E2;P43403	.;ZAP70_HUMAN	E	93	ENSP00000264972:G93E	ENSP00000264972:G93E	G	+	2	0	ZAP70	97707209	1.000000	0.71417	0.912000	0.35992	0.676000	0.39594	9.404000	0.97306	1.181000	0.42912	0.467000	0.42956	GGG	.		0.697	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329278.1		
TBC1D8	11138	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	2	101652587	101652587	+	Missense_Mutation	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:101652587A>G	ENST00000376840.4	-	9	1450	c.1451T>C	c.(1450-1452)gTg>gCg	p.V484A	TBC1D8_ENST00000409318.1_Missense_Mutation_p.V499A			O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	484					blood circulation (GO:0008015)|positive regulation of cell proliferation (GO:0008284)	membrane (GO:0016020)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						GCCGTATTCCACAAAGTGGTC	0.483																																					p.V484A		.											.	TBC1D8-25	0			c.T1451C						.						192.0	196.0	194.0					2																	101652587		1917	4132	6049	SO:0001583	missense	11138	exon9			TATTCCACAAAGT	AB024057	CCDS46375.1	2q12.1	2011-11-30			ENSG00000204634	ENSG00000204634			17791	protein-coding gene	gene with protein product	"""BUB2-like protein 1"", ""vascular Rab-GAP/TBC-containing protein"""					10373574	Standard	NM_001102426		Approved	HBLP1, VRP, AD3	uc010fiv.3	O95759	OTTHUMG00000153040	ENST00000376840.4:c.1451T>C	2.37:g.101652587A>G	ENSP00000366036:p.Val484Ala	136	0		68	6	NM_001102426	0	0	10	10	0	A6NDL4|A8K9W1|B9A6K4|Q53SQ4|Q9UQ32	Missense_Mutation	SNP	ENST00000376840.4	37	CCDS46375.1	.	.	.	.	.	.	.	.	.	.	A	0.609	-0.826033	0.02734	.	.	ENSG00000204634	ENST00000376840;ENST00000409318	T;T	0.04156	3.69;3.69	4.99	1.02	0.19986	Rab-GAP/TBC domain (1);	0.232407	0.29838	N	0.011061	T	0.02193	0.0068	N	0.11427	0.14	0.20403	N	0.999906	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.48636	-0.9018	10	0.06236	T	0.91	-15.5591	9.2622	0.37619	0.5926:0.0:0.4074:0.0	.	499;484	B7Z6L4;O95759	.;TBCD8_HUMAN	A	484;499	ENSP00000366036:V484A;ENSP00000386856:V499A	ENSP00000366036:V484A	V	-	2	0	TBC1D8	101019019	0.000000	0.05858	0.796000	0.32109	0.853000	0.48598	-0.022000	0.12480	-0.009000	0.14296	-0.417000	0.06048	GTG	.		0.483	TBC1D8-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376092.1	NM_007063	
MAP4K4	9448	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	102483026	102483026	+	Missense_Mutation	SNP	C	C	T	rs369479508		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:102483026C>T	ENST00000347699.4	+	18	2107	c.2107C>T	c.(2107-2109)Cgc>Tgc	p.R703C	MAP4K4_ENST00000425019.1_Missense_Mutation_p.R672C|MAP4K4_ENST00000324219.4_Missense_Mutation_p.R781C|MAP4K4_ENST00000302217.5_Missense_Mutation_p.R503C|MAP4K4_ENST00000350198.4_Missense_Mutation_p.R619C|MAP4K4_ENST00000413150.2_Missense_Mutation_p.R618C|MAP4K4_ENST00000350878.4_Missense_Mutation_p.R676C|MAP4K4_ENST00000456652.1_Missense_Mutation_p.R502C	NM_001242559.1|NM_145687.3	NP_001229488.1|NP_663720.1	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	703					intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of JNK cascade (GO:0046328)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CTCCGGGGAACGCTTCAGAGT	0.532																																					p.R703C		.											.	MAP4K4-547	0			c.C2107T						.	C	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	1,3895		0,1,1947	64.0	72.0	69.0		2107,2086,1852,2017,2017	5.8	1.0	2		69	0,8288		0,0,4144	no	missense,missense,missense,missense,missense	MAP4K4	NM_001242559.1,NM_001242560.1,NM_004834.4,NM_145686.3,NM_145687.3	180,180,180,180,180	0,1,6091	TT,TC,CC		0.0,0.0257,0.0082	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	703/1240,696/1236,618/1166,673/1274,673/1213	102483026	1,12183	1948	4144	6092	SO:0001583	missense	9448	exon18			GGGGAACGCTTCA	AF096300	CCDS56130.1, CCDS74546.1	2q11.2-q12	2011-06-09			ENSG00000071054	ENSG00000071054		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6866	protein-coding gene	gene with protein product	"""HPK/GCK-like kinase"", ""hepatocyte progenitor kinase-like/germinal center kinase-like kinase"""	604666				9890973, 9734811, 9135144	Standard	NM_004834		Approved	HGK, NIK, FLH21957	uc002tbf.3	O95819	OTTHUMG00000155394	ENST00000347699.4:c.2107C>T	2.37:g.102483026C>T	ENSP00000314363:p.Arg703Cys	106	0		72	53	NM_001242559	0	0	7	13	6	O75172|Q9NST7	Missense_Mutation	SNP	ENST00000347699.4	37	CCDS56130.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.19|18.19	3.569407|3.569407	0.65765|0.65765	2.57E-4|2.57E-4	0.0|0.0	ENSG00000071054|ENSG00000071054	ENST00000425019;ENST00000324219;ENST00000350198;ENST00000302217;ENST00000413150;ENST00000456652;ENST00000347699;ENST00000417294;ENST00000350878|ENST00000421882	T;T;T;T;T;T;T;T;T|.	0.16597|.	2.33;2.33;2.33;2.33;2.33;2.33;2.33;2.33;2.33|.	5.8|5.8	5.8|5.8	0.92144|0.92144	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76292|0.76292	0.3967|0.3967	M|M	0.78456|0.78456	2.415|2.415	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D;D;D;D|.	0.89917|.	0.999;0.997;0.994;0.997;0.998;1.0;1.0;0.998;1.0;1.0|.	P;P;P;P;P;D;D;P;D;D|.	0.85130|.	0.549;0.548;0.451;0.548;0.736;0.997;0.991;0.736;0.977;0.992|.	T|T	0.76337|0.76337	-0.2996|-0.2996	10|5	0.72032|.	D|.	0.01|.	.|.	15.6438|15.6438	0.77033|0.77033	0.1378:0.8622:0.0:0.0|0.1378:0.8622:0.0:0.0	.|.	676;696;502;503;618;703;672;619;672;781|.	B7Z388;B7Z3V5;E7EX83;C9J840;O95819-4;O95819;E7EN19;G3XAA2;O95819-2;G5E948|.	.;.;.;.;.;M4K4_HUMAN;.;.;.;.|.	C|M	672;781;619;503;618;502;703;634;676|519	ENSP00000392830:R672C;ENSP00000313644:R781C;ENSP00000281111:R619C;ENSP00000303600:R503C;ENSP00000389752:R618C;ENSP00000387370:R502C;ENSP00000314363:R703C;ENSP00000409720:R634C;ENSP00000343658:R676C|.	ENSP00000303600:R503C|.	R|T	+|+	1|2	0|0	MAP4K4|MAP4K4	101849458|101849458	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.611000|1.611000	0.36879|0.36879	2.735000|2.735000	0.93741|0.93741	0.655000|0.655000	0.94253|0.94253	CGC|ACG	.		0.532	MAP4K4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339839.1	NM_004834	
SLC9A2	6549	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	103300745	103300745	+	Silent	SNP	T	T	C	rs368185370		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:103300745T>C	ENST00000233969.2	+	5	1517	c.1375T>C	c.(1375-1377)Ttg>Ctg	p.L459L		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	459					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						TCGGAAAAAATTGTTTATTAC	0.413																																					p.L459L		.											.	SLC9A2-157	0			c.T1375C						.						215.0	208.0	210.0					2																	103300745		2203	4300	6503	SO:0001819	synonymous_variant	6549	exon5			AAAAAATTGTTTA		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.1375T>C	2.37:g.103300745T>C		174	0		131	116	NM_003048	0	0	0	1	1	B2RMS2	Silent	SNP	ENST00000233969.2	37	CCDS2062.1																																																																																			.		0.413	SLC9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253292.2		
SLC5A7	60482	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	108609479	108609479	+	Nonsense_Mutation	SNP	T	T	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:108609479T>A	ENST00000264047.2	+	4	620	c.344T>A	c.(343-345)tTa>tAa	p.L115*	SLC5A7_ENST00000540517.1_Nonsense_Mutation_p.L10*|SLC5A7_ENST00000409059.1_Nonsense_Mutation_p.L115*	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	115					acetylcholine biosynthetic process (GO:0008292)|cell death (GO:0008219)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	choline binding (GO:0033265)|choline transmembrane transporter activity (GO:0015220)|choline:sodium symporter activity (GO:0005307)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	GTGACCATGTTAGACCCGTTT	0.408																																					p.L115X		.											.	SLC5A7-93	0			c.T344A						.						152.0	152.0	152.0					2																	108609479		2203	4300	6503	SO:0001587	stop_gained	60482	exon4			CCATGTTAGACCC	AF276871	CCDS2074.1	2q12	2013-07-19	2013-07-19		ENSG00000115665	ENSG00000115665		"""Solute carriers"""	14025	protein-coding gene	gene with protein product		608761	"""solute carrier family 5 (choline transporter), member 7"""			11027560	Standard	NM_021815		Approved	hCHT, CHT1	uc002tdv.3	Q9GZV3	OTTHUMG00000130959	ENST00000264047.2:c.344T>A	2.37:g.108609479T>A	ENSP00000264047:p.Leu115*	155	0		84	63	NM_021815	0	0	0	0	0	Q53TF2	Nonsense_Mutation	SNP	ENST00000264047.2	37	CCDS2074.1	.	.	.	.	.	.	.	.	.	.	T	41	8.571606	0.98868	.	.	ENSG00000115665	ENST00000409059;ENST00000540517;ENST00000264047	.	.	.	6.16	6.16	0.99307	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.9733	16.8061	0.85666	0.0:0.0:0.0:1.0	.	.	.	.	X	115;10;115	.	ENSP00000264047:L115X	L	+	2	0	SLC5A7	107975911	1.000000	0.71417	0.766000	0.31476	0.999000	0.98932	8.040000	0.89188	2.367000	0.80283	0.528000	0.53228	TTA	.		0.408	SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253562.1		
NPHP1	4867	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	110902136	110902136	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:110902136G>A	ENST00000393272.3	-	15	1625	c.1528C>T	c.(1528-1530)Ctt>Ttt	p.L510F	NPHP1_ENST00000445609.2_Missense_Mutation_p.L455F|NPHP1_ENST00000417665.1_Missense_Mutation_p.L454F|NPHP1_ENST00000316534.4_Missense_Mutation_p.L511F|NPHP1_ENST00000355301.4_Missense_Mutation_p.L392F	NM_000272.3|NM_207181.2	NP_000263.2|NP_997064.2	O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	510					actin cytoskeleton organization (GO:0030036)|cell projection organization (GO:0030030)|cellular protein localization (GO:0034613)|excretion (GO:0007588)|photoreceptor cell outer segment organization (GO:0035845)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|spermatid differentiation (GO:0048515)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						TTCAAGAAAAGCTCATAAGTT	0.348																																					p.L511F		.											.	NPHP1-92	0			c.C1531T						.						81.0	78.0	79.0					2																	110902136		2203	4299	6502	SO:0001583	missense	4867	exon15			AGAAAAGCTCATA	AF023674	CCDS2086.1, CCDS46384.1, CCDS46385.1, CCDS46386.1	2q13	2014-01-28			ENSG00000144061	ENSG00000144061			7905	protein-coding gene	gene with protein product	"""nephrocystin-1"""	607100		NPH1			Standard	NM_000272		Approved	JBTS4, SLSN1	uc002tfm.4	O15259	OTTHUMG00000131195	ENST00000393272.3:c.1528C>T	2.37:g.110902136G>A	ENSP00000376953:p.Leu510Phe	196	0		108	77	NM_000272	0	0	0	0	0	O14837	Missense_Mutation	SNP	ENST00000393272.3	37	CCDS46385.1	.	.	.	.	.	.	.	.	.	.	G	17.26	3.344230	0.61073	.	.	ENSG00000144061	ENST00000316534;ENST00000445609;ENST00000393272;ENST00000355301;ENST00000417665	T;T;T;T;T	0.71698	-0.59;-0.57;-0.59;-0.44;-0.46	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.84437	0.5472	M	0.76574	2.34	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.997;0.999;0.999;0.998;0.999;0.999	D	0.85310	0.1078	10	0.87932	D	0	-16.1172	17.8301	0.88679	0.0:0.0:1.0:0.0	.	454;454;392;510;455;511	B4DQY0;C9JNM7;O15259-3;O15259;O15259-2;O15259-4	.;.;.;NPHP1_HUMAN;.;.	F	511;455;510;392;454	ENSP00000313169:L511F;ENSP00000389879:L455F;ENSP00000376953:L510F;ENSP00000347452:L392F;ENSP00000402176:L454F	ENSP00000313169:L511F	L	-	1	0	NPHP1	110259425	1.000000	0.71417	0.872000	0.34217	0.458000	0.32498	7.340000	0.79292	2.814000	0.96858	0.563000	0.77884	CTT	.		0.348	NPHP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253919.3	NM_000272	
IL37	27178	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	113671396	113671396	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:113671396G>A	ENST00000263326.3	+	2	152	c.110G>A	c.(109-111)gGc>gAc	p.G37D	IL37_ENST00000352179.3_Intron|IL37_ENST00000311328.2_5'Flank|IL37_ENST00000353225.3_Missense_Mutation_p.G37D|IL37_ENST00000349806.3_Intron	NM_014439.3	NP_055254.2	Q9NZH6	IL37_HUMAN	interleukin 37	37					immune response (GO:0006955)|inflammatory response (GO:0006954)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)	interleukin-1 receptor binding (GO:0005149)			NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3)	19						CTGGAACCAGGCCCAAGCCTC	0.567																																					p.G37D		.											.	IL37-92	0			c.G110A						.						93.0	77.0	83.0					2																	113671396		2203	4300	6503	SO:0001583	missense	27178	exon2			AACCAGGCCCAAG	AF201832	CCDS2103.1, CCDS2104.1, CCDS2105.1, CCDS2106.1, CCDS2107.1	2q12-q14.1	2011-06-06	2011-06-06	2011-06-06	ENSG00000125571	ENSG00000125571		"""Interleukins and interleukin receptors"""	15563	protein-coding gene	gene with protein product	"""interleukin 1, zeta"", ""interleukin-1 homolog 4"", ""interleukin-1-related protein"""	605510	"""interleukin 1 family, member 7 (zeta)"""	IL1F7		10625660, 10512743, 12496389	Standard	NM_014439		Approved	FIL1, FIL1Z, FIL1(ZETA), IL-1H4, IL-1RP1, IL-1F7	uc002tij.3	Q9NZH6	OTTHUMG00000131345	ENST00000263326.3:c.110G>A	2.37:g.113671396G>A	ENSP00000263326:p.Gly37Asp	238	0		128	87	NM_014439	0	0	0	0	0	B5BU97|Q56AP9|Q8TD04|Q8TD05|Q9HBF2|Q9HBF3|Q9UHA6	Missense_Mutation	SNP	ENST00000263326.3	37	CCDS2103.1	.	.	.	.	.	.	.	.	.	.	g	5.505	0.278163	0.10403	.	.	ENSG00000125571	ENST00000263326;ENST00000353225	T;T	0.58210	0.35;0.35	2.78	-1.39	0.08997	.	0.520005	0.14356	N	0.324772	T	0.30727	0.0774	N	0.22421	0.69	0.09310	N	0.999997	B;B	0.16396	0.017;0.01	B;B	0.19946	0.027;0.013	T	0.13980	-1.0489	10	0.48119	T	0.1	-1.1576	2.747	0.05270	0.3887:0.0:0.405:0.2064	.	37;37	Q9NZH6-3;Q9NZH6	.;IL37_HUMAN	D	37	ENSP00000263326:G37D;ENSP00000309208:G37D	ENSP00000263326:G37D	G	+	2	0	IL37	113387867	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	-0.298000	0.08265	-0.348000	0.08286	-0.260000	0.10688	GGC	.		0.567	IL37-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254126.1	NM_014439	
DPP10	57628	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	116101426	116101426	+	Missense_Mutation	SNP	C	C	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:116101426C>A	ENST00000410059.1	+	3	689	c.209C>A	c.(208-210)tCt>tAt	p.S70Y	DPP10_ENST00000409163.1_Missense_Mutation_p.S20Y|DPP10_ENST00000310323.8_Missense_Mutation_p.S63Y|DPP10_ENST00000393147.2_Missense_Mutation_p.S74Y	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	70						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						ACCAGATTGTCTTTGGAAGAC	0.348																																					p.S74Y		.											.	DPP10-142	0			c.C221A						.						92.0	95.0	94.0					2																	116101426		2203	4300	6503	SO:0001583	missense	57628	exon3			GATTGTCTTTGGA	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.209C>A	2.37:g.116101426C>A	ENSP00000386565:p.Ser70Tyr	62	0		40	12	NM_001178034	0	0	3	7	4	A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	37	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	C	15.85	2.956326	0.53293	.	.	ENSG00000175497	ENST00000436732;ENST00000410059;ENST00000409163;ENST00000393146;ENST00000393147;ENST00000310323;ENST00000419287;ENST00000476155	T;T;T;D;T;T;D	0.96073	1.02;1.02;1.02;-3.9;1.02;1.02;-3.9	5.85	5.85	0.93711	.	0.069556	0.64402	D	0.000013	D	0.94601	0.8260	L	0.46157	1.445	0.43579	D	0.995919	B;P;B;B	0.50943	0.066;0.94;0.04;0.04	B;P;B;B	0.48030	0.037;0.564;0.017;0.017	D	0.94820	0.7986	10	0.72032	D	0.01	-42.0535	15.6508	0.77091	0.0:1.0:0.0:0.0	.	63;74;66;70	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	Y	20;70;20;66;74;63;20;20	ENSP00000391092:S20Y;ENSP00000386565:S70Y;ENSP00000387038:S20Y;ENSP00000376854:S66Y;ENSP00000376855:S74Y;ENSP00000309066:S63Y;ENSP00000402499:S20Y	ENSP00000309066:S63Y	S	+	2	0	DPP10	115817896	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	4.167000	0.58209	2.768000	0.95171	0.585000	0.79938	TCT	.		0.348	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868	
INHBB	3625	hgsc.bcm.edu	37	2	121103890	121103890	+	Silent	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:121103890C>T	ENST00000295228.3	+	1	172	c.126C>T	c.(124-126)ccC>ccT	p.P42P		NM_002193.2	NP_002184.2	P09529	INHBB_HUMAN	inhibin, beta B	42					activin receptor signaling pathway (GO:0032924)|cell differentiation (GO:0030154)|cellular response to insulin stimulus (GO:0032869)|cellular response to leptin stimulus (GO:0044320)|cellular response to starvation (GO:0009267)|defense response (GO:0006952)|fat cell differentiation (GO:0045444)|growth (GO:0040007)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of hepatocyte growth factor biosynthetic process (GO:0048178)|negative regulation of insulin secretion (GO:0046676)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|response to mechanical stimulus (GO:0009612)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	cytokine activity (GO:0005125)|hormone activity (GO:0005179)|host cell surface receptor binding (GO:0046789)|protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15		Prostate(154;0.122)				cgccgccacccccgccaccCG	0.781																																					p.P42P		.											.	INHBB-93	0			c.C126T						.						1.0	1.0	1.0					2																	121103890		555	1521	2076	SO:0001819	synonymous_variant	3625	exon1			GCCACCCCCGCCA		CCDS2132.1	2q14.2	2014-01-30	2007-07-30		ENSG00000163083	ENSG00000163083		"""Endogenous ligands"""	6067	protein-coding gene	gene with protein product		147390	"""inhibin, beta B (activin AB beta polypeptide)"""			3345731	Standard	NM_002193		Approved		uc002tmn.2	P09529	OTTHUMG00000131437	ENST00000295228.3:c.126C>T	2.37:g.121103890C>T		1	0		9	7	NM_002193	0	0	1	1	0	Q53T31|Q8N1D3	Silent	SNP	ENST00000295228.3	37	CCDS2132.1																																																																																			.		0.781	INHBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254234.1		
INHBB	3625	hgsc.bcm.edu;bcgsc.ca;mdanderson.org	37	2	121103925	121103925	+	Missense_Mutation	SNP	C	C	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:121103925C>A	ENST00000295228.3	+	1	207	c.161C>A	c.(160-162)aCc>aAc	p.T54N		NM_002193.2	NP_002184.2	P09529	INHBB_HUMAN	inhibin, beta B	54					activin receptor signaling pathway (GO:0032924)|cell differentiation (GO:0030154)|cellular response to insulin stimulus (GO:0032869)|cellular response to leptin stimulus (GO:0044320)|cellular response to starvation (GO:0009267)|defense response (GO:0006952)|fat cell differentiation (GO:0045444)|growth (GO:0040007)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of hepatocyte growth factor biosynthetic process (GO:0048178)|negative regulation of insulin secretion (GO:0046676)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|response to mechanical stimulus (GO:0009612)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	cytokine activity (GO:0005125)|hormone activity (GO:0005179)|host cell surface receptor binding (GO:0046789)|protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15		Prostate(154;0.122)				TCGCAGGACACCTGTACGTCG	0.756																																					p.T54N		.											.	INHBB-93	0			c.C161A						.						2.0	2.0	2.0					2																	121103925		1385	3169	4554	SO:0001583	missense	3625	exon1			AGGACACCTGTAC		CCDS2132.1	2q14.2	2014-01-30	2007-07-30		ENSG00000163083	ENSG00000163083		"""Endogenous ligands"""	6067	protein-coding gene	gene with protein product		147390	"""inhibin, beta B (activin AB beta polypeptide)"""			3345731	Standard	NM_002193		Approved		uc002tmn.2	P09529	OTTHUMG00000131437	ENST00000295228.3:c.161C>A	2.37:g.121103925C>A	ENSP00000295228:p.Thr54Asn	9	0		43	38	NM_002193	0	0	8	8	0	Q53T31|Q8N1D3	Missense_Mutation	SNP	ENST00000295228.3	37	CCDS2132.1	.	.	.	.	.	.	.	.	.	.	c	8.461	0.855320	0.17106	.	.	ENSG00000163083	ENST00000295228	T	0.79749	-1.3	2.61	2.61	0.31194	.	0.649237	0.12113	U	0.498303	T	0.67988	0.2952	L	0.43152	1.355	0.28820	N	0.897768	P	0.43750	0.816	B	0.36719	0.231	T	0.58109	-0.7694	10	0.17832	T	0.49	-5.6985	7.9015	0.29738	0.2465:0.7535:0.0:0.0	.	54	P09529	INHBB_HUMAN	N	54	ENSP00000295228:T54N	ENSP00000295228:T54N	T	+	2	0	INHBB	120820395	0.993000	0.37304	1.000000	0.80357	0.393000	0.30537	2.737000	0.47393	1.272000	0.44329	0.176000	0.17051	ACC	.		0.756	INHBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254234.1		
INHBB	3625	hgsc.bcm.edu;bcgsc.ca;mdanderson.org	37	2	121103941	121103941	+	Silent	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:121103941C>T	ENST00000295228.3	+	1	223	c.177C>T	c.(175-177)ggC>ggT	p.G59G		NM_002193.2	NP_002184.2	P09529	INHBB_HUMAN	inhibin, beta B	59					activin receptor signaling pathway (GO:0032924)|cell differentiation (GO:0030154)|cellular response to insulin stimulus (GO:0032869)|cellular response to leptin stimulus (GO:0044320)|cellular response to starvation (GO:0009267)|defense response (GO:0006952)|fat cell differentiation (GO:0045444)|growth (GO:0040007)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of hepatocyte growth factor biosynthetic process (GO:0048178)|negative regulation of insulin secretion (GO:0046676)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|response to mechanical stimulus (GO:0009612)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	cytokine activity (GO:0005125)|hormone activity (GO:0005179)|host cell surface receptor binding (GO:0046789)|protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15		Prostate(154;0.122)				CGTCGTGCGGCGGCTTCCGGC	0.761																																					p.G59G		.											.	INHBB-93	0			c.C177T						.						2.0	3.0	3.0					2																	121103941		1449	3325	4774	SO:0001819	synonymous_variant	3625	exon1			GTGCGGCGGCTTC		CCDS2132.1	2q14.2	2014-01-30	2007-07-30		ENSG00000163083	ENSG00000163083		"""Endogenous ligands"""	6067	protein-coding gene	gene with protein product		147390	"""inhibin, beta B (activin AB beta polypeptide)"""			3345731	Standard	NM_002193		Approved		uc002tmn.2	P09529	OTTHUMG00000131437	ENST00000295228.3:c.177C>T	2.37:g.121103941C>T		15	0		57	51	NM_002193	0	0	7	7	0	Q53T31|Q8N1D3	Silent	SNP	ENST00000295228.3	37	CCDS2132.1																																																																																			.		0.761	INHBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254234.1		
INHBB	3625	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	2	121103965	121103965	+	Silent	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:121103965C>T	ENST00000295228.3	+	1	247	c.201C>T	c.(199-201)ctC>ctT	p.L67L		NM_002193.2	NP_002184.2	P09529	INHBB_HUMAN	inhibin, beta B	67					activin receptor signaling pathway (GO:0032924)|cell differentiation (GO:0030154)|cellular response to insulin stimulus (GO:0032869)|cellular response to leptin stimulus (GO:0044320)|cellular response to starvation (GO:0009267)|defense response (GO:0006952)|fat cell differentiation (GO:0045444)|growth (GO:0040007)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of hepatocyte growth factor biosynthetic process (GO:0048178)|negative regulation of insulin secretion (GO:0046676)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|response to mechanical stimulus (GO:0009612)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	cytokine activity (GO:0005125)|hormone activity (GO:0005179)|host cell surface receptor binding (GO:0046789)|protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15		Prostate(154;0.122)				CAGAGGAGCTCGGCCGAGTGG	0.736																																					p.L67L		.											.	INHBB-93	0			c.C201T						.						3.0	4.0	4.0					2																	121103965		1519	3353	4872	SO:0001819	synonymous_variant	3625	exon1			GGAGCTCGGCCGA		CCDS2132.1	2q14.2	2014-01-30	2007-07-30		ENSG00000163083	ENSG00000163083		"""Endogenous ligands"""	6067	protein-coding gene	gene with protein product		147390	"""inhibin, beta B (activin AB beta polypeptide)"""			3345731	Standard	NM_002193		Approved		uc002tmn.2	P09529	OTTHUMG00000131437	ENST00000295228.3:c.201C>T	2.37:g.121103965C>T		21	0		75	63	NM_002193	0	0	9	9	0	Q53T31|Q8N1D3	Silent	SNP	ENST00000295228.3	37	CCDS2132.1																																																																																			.		0.736	INHBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254234.1		
INHBB	3625	hgsc.bcm.edu;bcgsc.ca;mdanderson.org	37	2	121104035	121104035	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:121104035C>T	ENST00000295228.3	+	1	317	c.271C>T	c.(271-273)Cgg>Tgg	p.R91W		NM_002193.2	NP_002184.2	P09529	INHBB_HUMAN	inhibin, beta B	91					activin receptor signaling pathway (GO:0032924)|cell differentiation (GO:0030154)|cellular response to insulin stimulus (GO:0032869)|cellular response to leptin stimulus (GO:0044320)|cellular response to starvation (GO:0009267)|defense response (GO:0006952)|fat cell differentiation (GO:0045444)|growth (GO:0040007)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of hepatocyte growth factor biosynthetic process (GO:0048178)|negative regulation of insulin secretion (GO:0046676)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|response to mechanical stimulus (GO:0009612)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	cytokine activity (GO:0005125)|hormone activity (GO:0005179)|host cell surface receptor binding (GO:0046789)|protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15		Prostate(154;0.122)				GATGCGGGGCCGGCCCAACAT	0.721																																					p.R91W		.											.	INHBB-93	0			c.C271T						.						5.0	6.0	6.0					2																	121104035		1871	3814	5685	SO:0001583	missense	3625	exon1			CGGGGCCGGCCCA		CCDS2132.1	2q14.2	2014-01-30	2007-07-30		ENSG00000163083	ENSG00000163083		"""Endogenous ligands"""	6067	protein-coding gene	gene with protein product		147390	"""inhibin, beta B (activin AB beta polypeptide)"""			3345731	Standard	NM_002193		Approved		uc002tmn.2	P09529	OTTHUMG00000131437	ENST00000295228.3:c.271C>T	2.37:g.121104035C>T	ENSP00000295228:p.Arg91Trp	11	0		66	52	NM_002193	0	0	9	9	0	Q53T31|Q8N1D3	Missense_Mutation	SNP	ENST00000295228.3	37	CCDS2132.1	.	.	.	.	.	.	.	.	.	.	c	15.72	2.916672	0.52546	.	.	ENSG00000163083	ENST00000295228	T	0.71579	-0.58	3.05	3.05	0.35203	Transforming growth factor-beta, N-terminal (1);	0.437966	0.19019	U	0.124875	D	0.82531	0.5057	M	0.83603	2.65	0.43199	D	0.995049	D	0.89917	1.0	D	0.87578	0.998	D	0.83381	0.0012	10	0.87932	D	0	-4.7003	8.6885	0.34251	0.2281:0.7719:0.0:0.0	.	91	P09529	INHBB_HUMAN	W	91	ENSP00000295228:R91W	ENSP00000295228:R91W	R	+	1	2	INHBB	120820505	0.992000	0.36948	1.000000	0.80357	0.844000	0.47949	0.395000	0.20850	1.521000	0.48983	0.176000	0.17051	CGG	.		0.721	INHBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254234.1		
INHBB	3625	ucsc.edu;bcgsc.ca;mdanderson.org	37	2	121106703	121106703	+	Silent	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:121106703A>G	ENST00000295228.3	+	2	523	c.477A>G	c.(475-477)ctA>ctG	p.L159L		NM_002193.2	NP_002184.2	P09529	INHBB_HUMAN	inhibin, beta B	159					activin receptor signaling pathway (GO:0032924)|cell differentiation (GO:0030154)|cellular response to insulin stimulus (GO:0032869)|cellular response to leptin stimulus (GO:0044320)|cellular response to starvation (GO:0009267)|defense response (GO:0006952)|fat cell differentiation (GO:0045444)|growth (GO:0040007)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of hepatocyte growth factor biosynthetic process (GO:0048178)|negative regulation of insulin secretion (GO:0046676)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|response to mechanical stimulus (GO:0009612)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	cytokine activity (GO:0005125)|hormone activity (GO:0005179)|host cell surface receptor binding (GO:0046789)|protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15		Prostate(154;0.122)				GGGTCCGCCTATACTTCTTCA	0.557																																					p.L159L		.											.	INHBB-93	0			c.A477G						.						59.0	64.0	62.0					2																	121106703		2203	4300	6503	SO:0001819	synonymous_variant	3625	exon2			CCGCCTATACTTC		CCDS2132.1	2q14.2	2014-01-30	2007-07-30		ENSG00000163083	ENSG00000163083		"""Endogenous ligands"""	6067	protein-coding gene	gene with protein product		147390	"""inhibin, beta B (activin AB beta polypeptide)"""			3345731	Standard	NM_002193		Approved		uc002tmn.2	P09529	OTTHUMG00000131437	ENST00000295228.3:c.477A>G	2.37:g.121106703A>G		231	2		125	87	NM_002193	0	0	64	70	6	Q53T31|Q8N1D3	Silent	SNP	ENST00000295228.3	37	CCDS2132.1																																																																																			.		0.557	INHBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254234.1		
CLASP1	23332	ucsc.edu;bcgsc.ca	37	2	122216419	122216419	+	Silent	SNP	A	A	G	rs2304560	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:122216419A>G	ENST00000263710.4	-	13	1700	c.1311T>C	c.(1309-1311)atT>atC	p.I437I	CLASP1_ENST00000541859.1_Silent_p.I206I|CLASP1_ENST00000455322.2_Silent_p.I437I|CLASP1_ENST00000409078.3_Silent_p.I437I|CLASP1_ENST00000541377.1_Silent_p.I437I|CLASP1_ENST00000430234.1_5'Flank|CLASP1_ENST00000545861.1_Silent_p.I205I|CLASP1_ENST00000397587.3_Silent_p.I437I	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	437					axon guidance (GO:0007411)|cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|establishment or maintenance of cell polarity (GO:0007163)|exit from mitosis (GO:0010458)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)	cell cortex (GO:0005938)|centrosomal corona (GO:0031592)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|spindle microtubule (GO:0005876)	kinetochore binding (GO:0043515)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					TACTTACCCGAATAATTAACC	0.338													A|||	1277	0.254992	0.5968	0.1369	5008	,	,		17301	0.131		0.0656	False		,,,				2504	0.1994				p.I437I		.											.	CLASP1-91	0			c.T1311C						.	A	,,,	1798,1880		431,936,472	71.0	71.0	71.0		1311,1311,1311,1311	0.4	1.0	2	dbSNP_100	71	622,7570		15,592,3489	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CLASP1	NM_001142273.1,NM_001142274.1,NM_001207051.1,NM_015282.2	,,,	446,1528,3961	GG,GA,AA		7.5928,48.8853,20.3875	,,,	437/1480,437/1472,437/1478,437/1539	122216419	2420,9450	1839	4096	5935	SO:0001819	synonymous_variant	23332	exon13			TACCCGAATAATT	AB014522		2q14.2-q14.3	2013-01-18			ENSG00000074054	ENSG00000074054			17088	protein-coding gene	gene with protein product	"""multiple asters 1"""	605852				9734811, 10899121, 16914514	Standard	NM_015282		Approved	KIAA0622, MAST1	uc002tnc.3	Q7Z460	OTTHUMG00000153331	ENST00000263710.4:c.1311T>C	2.37:g.122216419A>G		63	0		42	4	NM_001207051	0	0	0	0	0	B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Silent	SNP	ENST00000263710.4	37																																																																																				A|0.779;G|0.221		0.338	CLASP1-201	KNOWN	basic	protein_coding	protein_coding		NM_015282	
AMER3	205147	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	131521542	131521542	+	Missense_Mutation	SNP	C	C	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:131521542C>A	ENST00000423981.1	+	2	2007	c.1897C>A	c.(1897-1899)Cca>Aca	p.P633T	AMER3_ENST00000321420.4_Missense_Mutation_p.P633T	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	633					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)										AAATAAGGCCCCAGTTCCTTC	0.587																																					p.P633T		.											.	.	0			c.C1897A						.						45.0	47.0	47.0					2																	131521542		2203	4300	6503	SO:0001583	missense	205147	exon2			AAGGCCCCAGTTC	AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"""-"""	26771	protein-coding gene	gene with protein product			"""family with sequence similarity 123C"""	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.1897C>A	2.37:g.131521542C>A	ENSP00000392700:p.Pro633Thr	159	0		159	75	NM_152698	0	0	0	0	0	B7ZLH6	Missense_Mutation	SNP	ENST00000423981.1	37	CCDS2164.1	.	.	.	.	.	.	.	.	.	.	C	8.858	0.946184	0.18356	.	.	ENSG00000178171	ENST00000321420;ENST00000423981	T;T	0.46451	0.87;0.87	3.79	-0.737	0.11129	.	1.222740	0.06041	N	0.654874	T	0.24736	0.0600	L	0.29908	0.895	0.09310	N	1	B	0.21452	0.056	B	0.15484	0.013	T	0.16276	-1.0408	10	0.25106	T	0.35	.	0.4881	0.00559	0.1859:0.3379:0.1989:0.2773	.	633	Q8N944	F123C_HUMAN	T	633	ENSP00000314914:P633T;ENSP00000392700:P633T	ENSP00000314914:P633T	P	+	1	0	FAM123C	131238012	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.351000	0.07711	-0.284000	0.09102	0.462000	0.41574	CCA	.		0.587	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698	
AMER3	205147	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	131521962	131521962	+	Nonsense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:131521962C>T	ENST00000423981.1	+	2	2427	c.2317C>T	c.(2317-2319)Cag>Tag	p.Q773*	AMER3_ENST00000321420.4_Nonsense_Mutation_p.Q773*	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	773					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)										TGTGGAGGACCAGCCCTTGCA	0.672																																					p.Q773X		.											.	.	0			c.C2317T						.						27.0	27.0	27.0					2																	131521962		2203	4300	6503	SO:0001587	stop_gained	205147	exon2			GAGGACCAGCCCT	AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"""-"""	26771	protein-coding gene	gene with protein product			"""family with sequence similarity 123C"""	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.2317C>T	2.37:g.131521962C>T	ENSP00000392700:p.Gln773*	123	0		164	71	NM_152698	0	0	0	0	0	B7ZLH6	Nonsense_Mutation	SNP	ENST00000423981.1	37	CCDS2164.1	.	.	.	.	.	.	.	.	.	.	C	35	5.563023	0.96527	.	.	ENSG00000178171	ENST00000321420;ENST00000423981	.	.	.	2.79	0.609	0.17575	.	2.004290	0.02820	N	0.125403	.	.	.	.	.	.	0.58432	D	0.999992	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.3804	0.07252	0.0:0.5564:0.258:0.1856	.	.	.	.	X	773	.	ENSP00000314914:Q773X	Q	+	1	0	FAM123C	131238432	0.139000	0.22563	0.002000	0.10522	0.006000	0.05464	0.182000	0.16900	0.135000	0.18707	0.462000	0.41574	CAG	.		0.672	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698	
ARHGEF4	50649	broad.mit.edu;bcgsc.ca;mdanderson.org	37	2	131797625	131797625	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:131797625G>A	ENST00000326016.5	+	7	1303	c.784G>A	c.(784-786)Gcc>Acc	p.A262T	ARHGEF4_ENST00000355771.3_Missense_Mutation_p.A191T|ARHGEF4_ENST00000409303.1_Missense_Mutation_p.A262T|ARHGEF4_ENST00000392953.3_Missense_Mutation_p.A262T|ARHGEF4_ENST00000428230.2_Intron|ARHGEF4_ENST00000439368.2_3'UTR|ARHGEF4_ENST00000525839.1_Missense_Mutation_p.A262T	NM_015320.2	NP_056135.2	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	262					apoptotic signaling pathway (GO:0097190)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein domain specific binding (GO:0019904)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		GGATGACGACGCCCCTCTGGC	0.701																																					p.A262T		.											.	ARHGEF4-292	0			c.G784A						.						34.0	35.0	35.0					2																	131797625		2190	4289	6479	SO:0001583	missense	50649	exon7			GACGACGCCCCTC	AL137289	CCDS2165.1, CCDS42754.1	2q22	2013-01-10			ENSG00000136002	ENSG00000136002		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	684	protein-coding gene	gene with protein product	"""APC-stimulated guanine nucleotide exchange factor"""	605216				10873612	Standard	NM_015320		Approved	STM6, KIAA1112, ASEF	uc002tsa.1	Q9NR80	OTTHUMG00000131657	ENST00000326016.5:c.784G>A	2.37:g.131797625G>A	ENSP00000316845:p.Ala262Thr	73	1		147	117	NM_032995	0	0	0	0	0	Q9HDC6|Q9UPP0	Missense_Mutation	SNP	ENST00000326016.5	37	CCDS2165.1	.	.	.	.	.	.	.	.	.	.	G	13.60	2.286452	0.40494	.	.	ENSG00000136002	ENST00000326016;ENST00000392953;ENST00000525839;ENST00000409303;ENST00000355771	D;D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57;-1.57	4.4	-0.803	0.10886	Src homology-3 domain (1);Dbl homology (DH) domain (1);	0.361916	0.28262	N	0.015994	T	0.68924	0.3054	L	0.42245	1.32	0.09310	N	1	B;B;B	0.26258	0.067;0.145;0.033	B;B;B	0.22753	0.011;0.041;0.011	T	0.56667	-0.7941	10	0.46703	T	0.11	.	2.1228	0.03730	0.2655:0.1329:0.4664:0.1352	.	262;262;262	E9PEM0;Q9NR80-4;Q9NR80	.;.;ARHG4_HUMAN	T	262;262;262;262;191	ENSP00000316845:A262T;ENSP00000376680:A262T;ENSP00000432267:A262T;ENSP00000387285:A262T;ENSP00000348017:A191T	ENSP00000316845:A262T	A	+	1	0	ARHGEF4	131514095	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	0.028000	0.13644	0.147000	0.19030	-0.339000	0.08088	GCC	.		0.701	ARHGEF4-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000254554.4		
THSD7B	80731	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	137814011	137814011	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:137814011G>A	ENST00000409968.1	+	3	339	c.161G>A	c.(160-162)gGa>gAa	p.G54E	THSD7B_ENST00000272643.3_Missense_Mutation_p.G54E|THSD7B_ENST00000413152.2_Missense_Mutation_p.G23E|THSD7B_ENST00000543459.1_5'Flank			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	54	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)		p.G54A(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		AGGTGTACAGGAGACTGTGGT	0.483																																					.		.											.	THSD7B-75	1	Substitution - Missense(1)	breast(1)	.						.						56.0	59.0	58.0					2																	137814011		1990	4163	6153	SO:0001583	missense	80731	.			GTACAGGAGACTG			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.161G>A	2.37:g.137814011G>A	ENSP00000387145:p.Gly54Glu	53	0		66	33	.	0	0	7	14	7		Missense_Mutation	SNP	ENST00000409968.1	37		.	.	.	.	.	.	.	.	.	.	G	33	5.261080	0.95368	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.60548	0.18;0.18;0.18	5.89	5.89	0.94794	.	0.000000	0.64402	U	0.000007	T	0.72179	0.3428	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.64791	-0.6324	10	0.06236	T	0.91	.	19.8459	0.96707	0.0:0.0:1.0:0.0	.	23	C9JKN6	.	E	54;54;23	ENSP00000387145:G54E;ENSP00000272643:G54E;ENSP00000413841:G23E	ENSP00000272643:G54E	G	+	2	0	THSD7B	137530481	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.904000	0.87408	2.788000	0.95919	0.585000	0.79938	GGA	.		0.483	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9	
LRP1B	53353	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	141259364	141259364	+	Silent	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:141259364A>G	ENST00000389484.3	-	55	9713	c.8742T>C	c.(8740-8742)gaT>gaC	p.D2914D		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2914	LDL-receptor class A 20. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CGCCACAGTCATCCTTATTGT	0.398										TSP Lung(27;0.18)																											p.D2914D	Colon(99;50 2074 2507 20106)	.											.	LRP1B-311	0			c.T8742C						.						96.0	94.0	95.0					2																	141259364		2203	4300	6503	SO:0001819	synonymous_variant	53353	exon55			ACAGTCATCCTTA	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.8742T>C	2.37:g.141259364A>G		102	0		86	34	NM_018557	0	0	0	0	0	Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	CCDS2182.1																																																																																			.		0.398	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	
LRP1B	53353	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	141707930	141707930	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:141707930G>A	ENST00000389484.3	-	20	3981	c.3010C>T	c.(3010-3012)Cac>Tac	p.H1004Y		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1004					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AAGCAAGAGTGAACACAGCCC	0.473										TSP Lung(27;0.18)																											p.H1004Y	Colon(99;50 2074 2507 20106)	.											.	LRP1B-311	0			c.C3010T						.						123.0	86.0	98.0					2																	141707930		2203	4300	6503	SO:0001583	missense	53353	exon20			AAGAGTGAACACA	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.3010C>T	2.37:g.141707930G>A	ENSP00000374135:p.His1004Tyr	191	1		200	93	NM_018557	0	0	0	0	0	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.520379	0.44866	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	D;D	0.95171	-2.62;-3.63	5.8	4.93	0.64822	.	0.177963	0.40908	U	0.000981	D	0.95516	0.8543	M	0.62723	1.935	0.35225	D	0.776355	B;D	0.65815	0.02;0.995	B;D	0.72338	0.038;0.977	D	0.94269	0.7509	10	0.02654	T	1	.	14.836	0.70183	0.0686:0.0:0.9314:0.0	.	187;1004	Q96NT6;Q9NZR2	.;LRP1B_HUMAN	Y	1004;942;149	ENSP00000374135:H1004Y;ENSP00000413239:H149Y	ENSP00000374135:H1004Y	H	-	1	0	LRP1B	141424400	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.569000	0.73992	1.478000	0.48253	0.563000	0.77884	CAC	.		0.473	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	
GALNT5	11227	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	158115854	158115854	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:158115854G>A	ENST00000259056.4	+	1	1745	c.1260G>A	c.(1258-1260)acG>acA	p.T420T		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	polypeptide N-acetylgalactosaminyltransferase 5	420					cellular protein metabolic process (GO:0044267)|glycosaminoglycan biosynthetic process (GO:0006024)|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)	p.T420T(1)		breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						ACAGTGGAACGCACCAGGTGT	0.493																																					p.T420T		.											.	GALNT5-290	1	Substitution - coding silent(1)	lung(1)	c.G1260A						.						80.0	77.0	78.0					2																	158115854		2203	4300	6503	SO:0001819	synonymous_variant	11227	exon1			TGGAACGCACCAG	AJ245539	CCDS2203.1	2q24.1	2014-03-13	2014-03-13		ENSG00000136542	ENSG00000136542	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4127	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 5"""	615129	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)"""			10545594	Standard	NM_014568		Approved	GalNAc-T5	uc002tzg.3	Q7Z7M9	OTTHUMG00000131965	ENST00000259056.4:c.1260G>A	2.37:g.158115854G>A		60	0		71	33	NM_014568	0	0	0	0	0	A5PKZ1|Q9UGK7|Q9UHL6	Silent	SNP	ENST00000259056.4	37	CCDS2203.1																																																																																			.		0.493	GALNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254925.2	NM_014568	
TANC1	85461	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	159954275	159954275	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:159954275C>T	ENST00000263635.6	+	4	425	c.188C>T	c.(187-189)tCt>tTt	p.S63F	TANC1_ENST00000454300.1_Missense_Mutation_p.S63F	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	63					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						GTCTCGATGTCTCTGCCTTCC	0.532																																					p.S63F		.											.	TANC1-92	0			c.C188T						.						172.0	164.0	167.0					2																	159954275		2043	4180	6223	SO:0001583	missense	85461	exon4			CGATGTCTCTGCC	AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29364	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.188C>T	2.37:g.159954275C>T	ENSP00000263635:p.Ser63Phe	64	0		125	49	NM_033394	0	0	3	5	2	C9JD88|Q49AI8	Missense_Mutation	SNP	ENST00000263635.6	37	CCDS42766.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.561764	0.86335	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	D;T	0.85629	-2.01;-1.14	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.91586	0.7342	M	0.65975	2.015	0.32880	D	0.510434	D;D;D	0.89917	0.995;1.0;0.999	D;D;D	0.87578	0.986;0.998;0.996	D	0.93428	0.6783	10	0.87932	D	0	.	17.32	0.87233	0.0:1.0:0.0:0.0	.	63;63;63	B9EK39;Q9C0D5-2;Q9C0D5	.;.;TANC1_HUMAN	F	63	ENSP00000396339:S63F;ENSP00000263635:S63F	ENSP00000263635:S63F	S	+	2	0	TANC1	159662521	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.086000	0.71352	2.696000	0.92011	0.655000	0.94253	TCT	.		0.532	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1		
WDSUB1	151525	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	160132121	160132121	+	Silent	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:160132121T>C	ENST00000409990.3	-	4	868	c.612A>G	c.(610-612)cgA>cgG	p.R204R	WDSUB1_ENST00000358147.4_Silent_p.R204R|WDSUB1_ENST00000359774.4_Silent_p.R204R|WDSUB1_ENST00000392796.3_Silent_p.R204R|WDSUB1_ENST00000409124.1_Silent_p.R204R	NM_001128213.1	NP_001121685	Q8N9V3	WSDU1_HUMAN	WD repeat, sterile alpha motif and U-box domain containing 1	204							ubiquitin-protein transferase activity (GO:0004842)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|stomach(3)	16						ATGATGCCAGTCGAAAAAACT	0.323																																					p.R204R		.											.	WDSUB1-90	0			c.A612G						.						74.0	76.0	75.0					2																	160132121		2203	4300	6503	SO:0001819	synonymous_variant	151525	exon4			TGCCAGTCGAAAA	AK093494	CCDS2208.1	2q24.2	2013-01-28	2006-02-17	2005-03-25	ENSG00000196151	ENSG00000196151		"""WD repeat domain containing"", ""Sterile alpha motif (SAM) domain containing"", ""U-box domain containing"""	26697	protein-coding gene	gene with protein product			"""WD repeat and SAM domain containing 1"", ""WD repeat, SAM and U-box domain containing 1"""	WDSAM1		12477932	Standard	NM_152528		Approved	UBOX6, FLJ36175	uc002ual.4	Q8N9V3	OTTHUMG00000132028	ENST00000409990.3:c.612A>G	2.37:g.160132121T>C		101	0		139	71	NM_152528	0	0	10	20	10	Q53TI9|Q8N6N8	Silent	SNP	ENST00000409990.3	37	CCDS2208.1																																																																																			.		0.323	WDSUB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333339.1	NM_152528	
MARCH7	64844	hgsc.bcm.edu;bcgsc.ca	37	2	160604680	160604680	+	Frame_Shift_Del	DEL	T	T	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:160604680delT	ENST00000259050.4	+	5	1001	c.879delT	c.(877-879)actfs	p.T293fs	MARCH7_ENST00000409591.1_Frame_Shift_Del_p.T255fs|MARCH7_ENST00000539065.1_Frame_Shift_Del_p.T237fs|MARCH7_ENST00000409175.1_Frame_Shift_Del_p.T293fs	NM_001282805.1|NM_001282807.1|NM_022826.2	NP_001269734.1|NP_001269736.1|NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase	293	Ser-rich.				protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						TGTCATCTACTTTTTTTTCAC	0.393																																					p.T293fs		.											.	MARCH7-68	0			c.879delT						.						63.0	64.0	64.0					2																	160604680		2203	4300	6503	SO:0001589	frameshift_variant	64844	exon5			ATCTACTTTTTTT	AK022973	CCDS2210.1, CCDS63038.1, CCDS63039.1	2q24.2	2013-01-09	2012-02-23	2005-01-27	ENSG00000136536	ENSG00000136536		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	17393	protein-coding gene	gene with protein product		613334	"""axotrophin"", ""membrane-associated ring finger (C3HC4) 7"""	AXOT		14722266	Standard	XM_005246773		Approved	MARCH-VII, RNF177	uc002uax.3	Q9H992	OTTHUMG00000132029	ENST00000259050.4:c.879delT	2.37:g.160604680delT	ENSP00000259050:p.Thr293fs	98	2		106	48	NM_022826	0	0	0	0	0	A8K9X1|B7Z7P5|D3DPB0|Q53GQ1|Q9BTR9	Frame_Shift_Del	DEL	ENST00000259050.4	37	CCDS2210.1																																																																																			.		0.393	MARCH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255040.3	NM_022826	
PLA2R1	22925	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	160885416	160885416	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:160885416G>A	ENST00000283243.7	-	5	1106	c.900C>T	c.(898-900)caC>caT	p.H300H	PLA2R1_ENST00000392771.1_Silent_p.H300H	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	300	C-type lectin 1. {ECO:0000255|PROSITE- ProRule:PRU00040}.		H -> D (in dbSNP:rs35771982). {ECO:0000269|PubMed:7721806}.		cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						GCCAGCCAGCGTGTTCATCCA	0.483																																					p.H300H		.											.	PLA2R1-93	0			c.C900T						.						121.0	94.0	103.0					2																	160885416		2203	4300	6503	SO:0001819	synonymous_variant	22925	exon5			GCCAGCGTGTTCA	U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"""C-type lectin domain containing"""	9042	protein-coding gene	gene with protein product		604939	"""phospholipase A2 receptor 1, 180kD"""			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.900C>T	2.37:g.160885416G>A		275	1		389	193	NM_001195641	0	0	0	0	0	B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Silent	SNP	ENST00000283243.7	37	CCDS33309.1																																																																																			.		0.483	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333820.1		
TBR1	10716	broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	162274227	162274227	+	Missense_Mutation	SNP	G	G	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:162274227G>T	ENST00000389554.3	+	2	1050	c.733G>T	c.(733-735)Gat>Tat	p.D245Y	TBR1_ENST00000410035.1_5'Flank	NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	245					axon guidance (GO:0007411)|brain development (GO:0007420)|hindbrain development (GO:0030902)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of neuron projection development (GO:0010975)|specification of organ identity (GO:0010092)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						TTCTGGTCTCGATCCCACGGC	0.408																																					p.D245Y		.											.	TBR1-91	0			c.G733T						.						124.0	127.0	126.0					2																	162274227		2203	4300	6503	SO:0001583	missense	10716	exon2			GGTCTCGATCCCA	U49250	CCDS33310.1	2q24.2	2011-06-13			ENSG00000136535	ENSG00000136535		"""T-boxes"""	11590	protein-coding gene	gene with protein product		604616				7619531	Standard	NM_006593		Approved		uc002ubw.1	Q16650	OTTHUMG00000153888	ENST00000389554.3:c.733G>T	2.37:g.162274227G>T	ENSP00000374205:p.Asp245Tyr	97	1		78	25	NM_006593	0	0	0	0	0	B0AZS4|B2R6G5|Q14DC5|Q53TH0|Q56A81	Missense_Mutation	SNP	ENST00000389554.3	37	CCDS33310.1	.	.	.	.	.	.	.	.	.	.	G	19.69	3.874212	0.72180	.	.	ENSG00000136535	ENST00000389554	D	0.82167	-1.58	5.64	4.76	0.60689	p53-like transcription factor, DNA-binding (1);	0.110891	0.64402	D	0.000016	D	0.92440	0.7600	M	0.92268	3.29	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.93516	0.6857	10	0.87932	D	0	.	12.743	0.57264	0.0794:0.0:0.9206:0.0	.	245	Q16650	TBR1_HUMAN	Y	245	ENSP00000374205:D245Y	ENSP00000374205:D245Y	D	+	1	0	TBR1	161982473	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.196000	0.58407	2.646000	0.89796	0.655000	0.94253	GAT	.		0.408	TBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332845.1	NM_006593	
SLC4A10	57282	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	162719408	162719408	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:162719408G>A	ENST00000446997.1	+	6	695	c.602G>A	c.(601-603)aGc>aAc	p.S201N	SLC4A10_ENST00000415876.2_Missense_Mutation_p.S201N|SLC4A10_ENST00000272716.5_Missense_Mutation_p.S201N|SLC4A10_ENST00000375514.5_Missense_Mutation_p.S212N|SLC4A10_ENST00000421911.1_Missense_Mutation_p.S201N|SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000535165.1_Missense_Mutation_p.S201N	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	201					bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	CAACAAGTGAGCTCAGGTCAG	0.468																																					p.S212N		.											.	SLC4A10-229	0			c.G635A						.						69.0	67.0	68.0					2																	162719408		1962	4163	6125	SO:0001583	missense	57282	exon7			AAGTGAGCTCAGG		CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"""Solute carriers"""	13811	protein-coding gene	gene with protein product		605556	"""solute carrier family 4, sodium bicarbonate transporter-like, member 10"""			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.602G>A	2.37:g.162719408G>A	ENSP00000393066:p.Ser201Asn	179	0		246	118	NM_001178016	0	0	0	0	0	B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Missense_Mutation	SNP	ENST00000446997.1	37	CCDS54411.1	.	.	.	.	.	.	.	.	.	.	G	11.67	1.708150	0.30322	.	.	ENSG00000144290	ENST00000375514;ENST00000415876;ENST00000535165;ENST00000272716;ENST00000449513;ENST00000446997;ENST00000421911;ENST00000415711	T;T;T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32;-0.32;-0.32	5.63	5.63	0.86233	Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);	0.204155	0.52532	D	0.000072	T	0.49695	0.1572	N	0.11927	0.2	0.41004	D	0.984953	B;B;B;B	0.22541	0.071;0.0;0.071;0.001	B;B;B;B	0.28011	0.085;0.004;0.085;0.017	T	0.46693	-0.9173	10	0.17832	T	0.49	.	14.8499	0.70289	0.0:0.1436:0.8564:0.0	.	212;201;201;201	F8W675;E7EW28;Q6U841-2;Q6U841	.;.;.;S4A10_HUMAN	N	212;201;201;201;201;201;201;201	ENSP00000364664:S212N;ENSP00000395797:S201N;ENSP00000437527:S201N;ENSP00000272716:S201N;ENSP00000393066:S201N;ENSP00000404486:S201N	ENSP00000272716:S201N	S	+	2	0	SLC4A10	162427654	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.132000	0.50523	2.657000	0.90304	0.591000	0.81541	AGC	.		0.468	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333090.1	NM_022058	
FIGN	55137	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	164466944	164466944	+	Silent	SNP	C	C	T	rs554512883		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:164466944C>T	ENST00000333129.3	-	3	1712	c.1398G>A	c.(1396-1398)acG>acA	p.T466T	FIGN_ENST00000409634.1_Intron|FIGN_ENST00000482917.1_5'Flank	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	466					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						CGATGAGGTGCGTGTCAGTAT	0.532													C|||	1	0.000199681	0.0	0.0	5008	,	,		18317	0.0		0.001	False		,,,				2504	0.0				p.T466T		.											.	FIGN-156	0			c.G1398A						.						136.0	132.0	133.0					2																	164466944		2120	4230	6350	SO:0001819	synonymous_variant	55137	exon3			GAGGTGCGTGTCA	AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"""ATPases / AAA-type"""	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.1398G>A	2.37:g.164466944C>T		253	1		260	100	NM_018086	0	0	1	1	0	B3KWM0|Q9H6M5|Q9NVZ9	Silent	SNP	ENST00000333129.3	37	CCDS2221.2																																																																																			.		0.532	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2	NM_018086	
SCN2A	6326	broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	166153538	166153538	+	Silent	SNP	A	A	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:166153538A>T	ENST00000375437.2	+	3	569	c.279A>T	c.(277-279)gtA>gtT	p.V93V	SCN2A_ENST00000375427.2_Silent_p.V93V|SCN2A_ENST00000357398.3_Silent_p.V93V|SCN2A_ENST00000283256.6_Silent_p.V93V	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	93					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CGTTTATAGTATTGAATAAAG	0.279																																					p.V93V		.											.	SCN2A-142	0			c.A279T						.						54.0	52.0	53.0					2																	166153538		2203	4298	6501	SO:0001819	synonymous_variant	6326	exon2			TATAGTATTGAAT	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.279A>T	2.37:g.166153538A>T		135	1		150	65	NM_001040143	0	0	0	0	0	A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Silent	SNP	ENST00000375437.2	37	CCDS33314.1																																																																																			.		0.279	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007	
SCN2A	6326	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	166226748	166226748	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:166226748C>T	ENST00000375437.2	+	20	4078	c.3788C>T	c.(3787-3789)gCa>gTa	p.A1263V	SCN2A_ENST00000375427.2_Missense_Mutation_p.A1263V|SCN2A_ENST00000357398.3_Missense_Mutation_p.A1263V|SCN2A_ENST00000283256.6_Missense_Mutation_p.A1263V	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1263					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AAGTGGGTTGCATATGGTTTT	0.383																																					p.A1263V		.											.	SCN2A-142	0			c.C3788T						.						203.0	192.0	195.0					2																	166226748		2203	4300	6503	SO:0001583	missense	6326	exon19			GGGTTGCATATGG	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.3788C>T	2.37:g.166226748C>T	ENSP00000364586:p.Ala1263Val	160	0		158	83	NM_001040143	0	0	0	0	0	A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	C	35	5.589987	0.96590	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.99014	-5.33;-5.33;-5.33;-5.33	5.97	5.97	0.96955	Ion transport (1);	0.000000	0.64402	D	0.000002	D	0.99438	0.9801	M	0.88512	2.96	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.91635	0.995;0.999	D	0.99010	1.0814	10	0.87932	D	0	.	20.4324	0.99085	0.0:1.0:0.0:0.0	.	1263;1263	Q99250-2;Q99250	.;SCN2A_HUMAN	V	1263	ENSP00000364586:A1263V;ENSP00000349973:A1263V;ENSP00000283256:A1263V;ENSP00000364576:A1263V	ENSP00000283256:A1263V	A	+	2	0	SCN2A	165934994	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.818000	0.86416	2.833000	0.97629	0.585000	0.79938	GCA	.		0.383	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007	
GALNT3	2591	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	166611442	166611442	+	Splice_Site	SNP	G	G	C	rs144331248	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:166611442G>C	ENST00000392701.3	-	8	2299	c.1524C>G	c.(1522-1524)taC>taG	p.Y508*	GALNT3_ENST00000409882.1_Splice_Site_p.Y246*	NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN	polypeptide N-acetylgalactosaminyltransferase 3	508	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						AAATACTCACGTATCCAGATA	0.333																																					p.Y508X		.											.	GALNT3-92	0			c.C1524G						.						73.0	72.0	72.0					2																	166611442		2203	4298	6501	SO:0001630	splice_region_variant	2591	exon8			ACTCACGTATCCA		CCDS2226.1	2q24-q31	2014-03-13	2014-03-13		ENSG00000115339	ENSG00000115339	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4125	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 3"""	601756	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)"""			9592121, 15133511	Standard	NM_004482		Approved	GalNAc-T3, HHS, HFTC	uc010fph.1	Q14435	OTTHUMG00000132157	ENST00000392701.3:c.1524+1C>G	2.37:g.166611442G>C		99	0		105	38	NM_004482	0	0	0	0	0	Q53TG9|Q7Z476	Nonsense_Mutation	SNP	ENST00000392701.3	37	CCDS2226.1	.	.	.	.	.	.	.	.	.	.	A	29.4	5.004715	0.93287	.	.	ENSG00000115339	ENST00000392701;ENST00000409882	.	.	.	5.55	5.55	0.83447	.	0.122808	0.56097	D	0.000027	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.5985	0.50988	0.9301:0.0:0.0699:0.0	.	.	.	.	X	508;246	.	.	Y	-	3	2	GALNT3	166319688	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	1.354000	0.34056	0.949000	0.37715	-0.269000	0.10298	TAC	G|1.000;A|0.000		0.333	GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255205.2	NM_004482	Nonsense_Mutation
GALNT3	2591	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	166621434	166621434	+	Silent	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:166621434C>T	ENST00000392701.3	-	3	1423	c.648G>A	c.(646-648)ctG>ctA	p.L216L		NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN	polypeptide N-acetylgalactosaminyltransferase 3	216	Catalytic subdomain A.				carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						TTTCCTTCAGCAGTATTGCAG	0.418																																					p.L216L		.											.	GALNT3-92	0			c.G648A						.						174.0	162.0	166.0					2																	166621434		2203	4300	6503	SO:0001819	synonymous_variant	2591	exon3			CTTCAGCAGTATT		CCDS2226.1	2q24-q31	2014-03-13	2014-03-13		ENSG00000115339	ENSG00000115339	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4125	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 3"""	601756	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)"""			9592121, 15133511	Standard	NM_004482		Approved	GalNAc-T3, HHS, HFTC	uc010fph.1	Q14435	OTTHUMG00000132157	ENST00000392701.3:c.648G>A	2.37:g.166621434C>T		290	1		318	141	NM_004482	0	0	0	0	0	Q53TG9|Q7Z476	Silent	SNP	ENST00000392701.3	37	CCDS2226.1																																																																																			.		0.418	GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255205.2	NM_004482	
TTC21B	79809	ucsc.edu;bcgsc.ca	37	2	166781188	166781188	+	Splice_Site	SNP	G	G	A	rs16851307	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:166781188G>A	ENST00000243344.7	-	12	1524	c.1387C>T	c.(1387-1389)Cct>Tct	p.P463S		NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	463			P -> S (in dbSNP:rs16851307).		forebrain dorsal/ventral pattern formation (GO:0021798)|intraciliary retrograde transport (GO:0035721)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|protein localization to cilium (GO:0061512)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|nuclear chromatin (GO:0000790)				breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						GGACTTGCAGGCTAAACAAAA	0.353													G|||	55	0.0109824	0.0386	0.0058	5008	,	,		13522	0.0		0.0	False		,,,				2504	0.0				p.P463S		.											.	TTC21B-94	0			c.C1387T						.	G	SER/PRO	192,4214	119.2+/-156.9	6,180,2017	46.0	46.0	46.0		1387	5.8	1.0	2	dbSNP_123	46	0,8600		0,0,4300	yes	missense-near-splice	TTC21B	NM_024753.3	74	6,180,6317	AA,AG,GG		0.0,4.3577,1.4762	benign	463/1317	166781188	192,12814	2203	4300	6503	SO:0001630	splice_region_variant	79809	exon12			TTGCAGGCTAAAC	AB082523	CCDS33315.1	2q24.3	2014-09-04			ENSG00000123607	ENSG00000123607		"""Tetratricopeptide (TTC) repeat domain containing"", ""Intraflagellar transport homologs"""	25660	protein-coding gene	gene with protein product		612014				12056414, 21258341	Standard	NM_024753		Approved	FLJ11457, JBTS11, NPHP12, IFT139, THM1	uc002udk.3	Q7Z4L5	OTTHUMG00000154083	ENST00000243344.7:c.1387-1C>T	2.37:g.166781188G>A		114	1		107	49	NM_024753	0	0	0	0	0	A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Missense_Mutation	SNP	ENST00000243344.7	37	CCDS33315.1	27	0.012362637362637362	25	0.0508130081300813	2	0.0055248618784530384	0	0.0	0	0.0	G	19.77	3.889969	0.72524	0.043577	0.0	ENSG00000123607	ENST00000243344	T	0.63417	-0.04	5.76	5.76	0.90799	.	0.049003	0.85682	D	0.000000	T	0.26195	0.0639	M	0.74389	2.26	0.80722	D	1	P	0.39748	0.686	B	0.38156	0.266	T	0.53927	-0.8369	10	0.36615	T	0.2	-18.9007	19.9766	0.97312	0.0:0.0:1.0:0.0	rs16851307;rs52837751;rs58123452;rs16851307	463	Q7Z4L5	TT21B_HUMAN	S	463	ENSP00000243344:P463S	ENSP00000243344:P463S	P	-	1	0	TTC21B	166489434	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	6.194000	0.72082	2.728000	0.93425	0.561000	0.74099	CCT	G|0.983;A|0.017		0.353	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333770.1	NM_024753	Missense_Mutation
SCN7A	6332	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	2	167330837	167330837	+	Frame_Shift_Del	DEL	A	A	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:167330837delA	ENST00000409855.1	-	3	378	c.252delT	c.(250-252)aatfs	p.N84fs		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	84					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	TTCTATTTTTATTTAATACTA	0.318																																					p.N84fs		.											.	SCN7A-67	0			c.252delT						.						37.0	35.0	36.0					2																	167330837		1718	3863	5581	SO:0001589	frameshift_variant	6332	exon3			ATTTTTATTTAAT	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10594	protein-coding gene	gene with protein product		182392	"""sodium channel, voltage-gated, type VI, alpha"", ""sodium channel, voltage-gated, type VII, alpha"""	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.252delT	2.37:g.167330837delA	ENSP00000386796:p.Asn84fs	40	0		39	12	NM_002976	0	0	0	0	0		Frame_Shift_Del	DEL	ENST00000409855.1	37	CCDS46442.1																																																																																			.		0.318	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1		
XIRP2	129446	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	168099879	168099879	+	Missense_Mutation	SNP	A	A	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:168099879A>C	ENST00000409195.1	+	9	2066	c.1977A>C	c.(1975-1977)gaA>gaC	p.E659D	XIRP2_ENST00000295237.9_Missense_Mutation_p.E659D|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E437D	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	484					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GGATGTTTGAAACAAGGCCAT	0.443																																					p.E659D		.											.	XIRP2-104	0			c.A1977C						.						72.0	69.0	70.0					2																	168099879		1897	4127	6024	SO:0001583	missense	129446	exon9			GTTTGAAACAAGG	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.1977A>C	2.37:g.168099879A>C	ENSP00000386840:p.Glu659Asp	345	0		419	200	NM_152381	0	0	0	0	0	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	A	19.99	3.928896	0.73327	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.13901	2.59;2.59;2.55	5.93	2.24	0.28232	.	0.049086	0.85682	D	0.000000	T	0.38348	0.1037	M	0.86864	2.845	0.48571	D	0.999672	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.999	T	0.23833	-1.0177	10	0.66056	D	0.02	-23.4051	9.824	0.40901	0.8032:0.0:0.1968:0.0	.	484;484;437	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	D	659;659;437	ENSP00000386840:E659D;ENSP00000295237:E659D;ENSP00000387255:E437D	ENSP00000295237:E659D	E	+	3	2	XIRP2	167808125	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.812000	0.47994	0.502000	0.28037	0.533000	0.62120	GAA	.		0.443	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381	
NOSTRIN	115677	hgsc.bcm.edu;bcgsc.ca	37	2	169699563	169699563	+	Frame_Shift_Del	DEL	A	A	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:169699563delA	ENST00000317647.7	+	8	795	c.566delA	c.(565-567)caafs	p.Q189fs	NOSTRIN_ENST00000445023.2_Frame_Shift_Del_p.Q111fs|NOSTRIN_ENST00000397209.2_Frame_Shift_Del_p.Q161fs|NOSTRIN_ENST00000444448.2_Frame_Shift_Del_p.Q189fs|NOSTRIN_ENST00000421711.2_Frame_Shift_Del_p.Q161fs|NOSTRIN_ENST00000397206.2_Frame_Shift_Del_p.Q111fs|NOSTRIN_ENST00000458381.2_Frame_Shift_Del_p.Q189fs	NM_001039724.3	NP_001034813.2	Q8IVI9	NOSTN_HUMAN	nitric oxide synthase trafficking	189					endocytosis (GO:0006897)|negative regulation of transcription, DNA-templated (GO:0045892)|nitric oxide metabolic process (GO:0046209)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoskeleton (GO:0005856)|endocytic vesicle membrane (GO:0030666)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)			kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						AATTACTACCAAAAAAACATG	0.333																																					p.Q189fs		.											.	NOSTRIN-90	0			c.566delA						.						76.0	72.0	73.0					2																	169699563		1812	4075	5887	SO:0001589	frameshift_variant	115677	exon8			ACTACCAAAAAAA	AJ532842	CCDS42771.1, CCDS42772.1, CCDS54415.1, CCDS54416.1	2q31.1	2013-08-05	2013-08-05		ENSG00000163072	ENSG00000163072			20203	protein-coding gene	gene with protein product		607496	"""nitric oxide synthase trafficker"""			12446846	Standard	NM_001171631		Approved	MGC20702	uc002ueg.3	Q8IVI9	OTTHUMG00000153990	ENST00000317647.7:c.566delA	2.37:g.169699563delA	ENSP00000318921:p.Gln189fs	232	1		337	126	NM_001039724	0	0	0	0	0	A8K2I9|B3KSF5|E7EPT9|Q27HG3|Q53S62|Q96CJ9	Frame_Shift_Del	DEL	ENST00000317647.7	37	CCDS42771.1																																																																																			.		0.333	NOSTRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333356.4	NM_052946	
DHRS9	10170	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	169948425	169948425	+	Missense_Mutation	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:169948425A>G	ENST00000327239.4	+	7	2202	c.698A>G	c.(697-699)gAc>gGc	p.D233G	DHRS9_ENST00000412271.1_Missense_Mutation_p.D233G|DHRS9_ENST00000421653.1_Missense_Mutation_p.D86G|DHRS9_ENST00000357546.2_Missense_Mutation_p.D233G|DHRS9_ENST00000602501.1_Missense_Mutation_p.D233G|DHRS9_ENST00000432060.2_Missense_Mutation_p.D293G|DHRS9_ENST00000428522.1_Missense_Mutation_p.D233G|DHRS9_ENST00000436483.2_Missense_Mutation_p.D233G	NM_005771.4	NP_005762.2	Q9BPW9	DHRS9_HUMAN	dehydrogenase/reductase (SDR family) member 9	233					9-cis-retinoic acid biosynthetic process (GO:0042904)|androgen metabolic process (GO:0008209)|epithelial cell differentiation (GO:0030855)|progesterone metabolic process (GO:0042448)|retinol metabolic process (GO:0042572)	integral component of endoplasmic reticulum membrane (GO:0030176)	alcohol dehydrogenase (NAD) activity (GO:0004022)|racemase and epimerase activity (GO:0016854)|retinol dehydrogenase activity (GO:0004745)|testosterone dehydrogenase (NAD+) activity (GO:0047035)			breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						CTGTCTCCAGACATCAAACAA	0.423																																					p.D233G		.											.	DHRS9-90	0			c.A698G						.						65.0	65.0	65.0					2																	169948425		2203	4300	6503	SO:0001583	missense	10170	exon7			CTCCAGACATCAA	AF067174	CCDS2231.1, CCDS74600.1	2q31.1	2011-09-14			ENSG00000073737	ENSG00000073737		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	16888	protein-coding gene	gene with protein product	"""NADP-dependent retinol dehydrogenase/reductase"", ""3-alpha hydroxysteroid dehydrogenase"", ""retinol dehydrogenase homolog"", ""short chain dehydrogenase/reductase family 9C, member 4"""	612131				11304534, 11294878, 19027726	Standard	NM_001142270		Approved	RDHL, 3alpha-HSD, RETSDR8, RDH15, SDR9C4	uc010zde.2	Q9BPW9	OTTHUMG00000132180	ENST00000327239.4:c.698A>G	2.37:g.169948425A>G	ENSP00000316670:p.Asp233Gly	99	0		117	48	NM_005771	0	0	0	1	1	B7Z416|D3DPC1|Q5RKX1|Q9NRA9|Q9NRB0	Missense_Mutation	SNP	ENST00000327239.4	37	CCDS2231.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.356993	0.82243	.	.	ENSG00000073737	ENST00000327239;ENST00000357546;ENST00000432060;ENST00000428522;ENST00000421653;ENST00000436483;ENST00000412271	D;D;D;D;D;D;D	0.90504	-1.9;-1.9;-1.94;-1.9;-2.68;-1.9;-1.9	5.93	5.93	0.95920	NAD(P)-binding domain (1);	0.090500	0.85682	D	0.000000	D	0.89646	0.6775	M	0.61703	1.905	0.43203	D	0.995055	B;B	0.21147	0.052;0.026	B;B	0.20384	0.029;0.022	D	0.86589	0.1859	10	0.59425	D	0.04	.	16.0486	0.80740	1.0:0.0:0.0:0.0	.	293;233	B7Z416;Q9BPW9	.;DHRS9_HUMAN	G	233;233;293;233;86;233;233	ENSP00000316670:D233G;ENSP00000350154:D233G;ENSP00000389241:D293G;ENSP00000388564:D233G;ENSP00000388066:D86G;ENSP00000407167:D233G;ENSP00000407747:D233G	ENSP00000316670:D233G	D	+	2	0	DHRS9	169656671	0.998000	0.40836	0.997000	0.53966	0.923000	0.55619	4.050000	0.57404	2.270000	0.75569	0.482000	0.46254	GAC	.		0.423	DHRS9-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333612.3	NM_005771	
LRP2	4036	broad.mit.edu	37	2	170127462	170127462	+	Frame_Shift_Del	DEL	A	A	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:170127462delA	ENST00000263816.3	-	16	2557	c.2272delT	c.(2272-2274)tcafs	p.S758fs	LRP2_ENST00000443831.1_Intron	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	758					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	GACATATCTGAAAAAAAGATA	0.423																																					p.S758fs		.											.	LRP2-175	0			c.2272delT						.						115.0	111.0	112.0					2																	170127462		2203	4300	6503	SO:0001589	frameshift_variant	4036	exon16			TATCTGAAAAAAA		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.2272delT	2.37:g.170127462delA	ENSP00000263816:p.Ser758fs	184	0		258	7	NM_004525	0	0	0	0	0	O00711|Q16215	Frame_Shift_Del	DEL	ENST00000263816.3	37	CCDS2232.1																																																																																			.		0.423	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525	
HNRNPA3	220988	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	178083867	178083867	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:178083867G>A	ENST00000392524.2	+	9	1301	c.1064G>A	c.(1063-1065)aGc>aAc	p.S355N	HNRNPA3_ENST00000435711.1_Missense_Mutation_p.S355N|HNRNPA3_ENST00000411529.2_Missense_Mutation_p.S333N			P51991	ROA3_HUMAN	heterogeneous nuclear ribonucleoprotein A3	355	Gly-rich.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|urinary_tract(1)	16						GGTGGAAGAAGCTCGGGCAGT	0.353																																					p.S355N		.											.	HNRNPA3-70	0			c.G1064A						.						64.0	68.0	67.0					2																	178083867		2203	4300	6503	SO:0001583	missense	220988	exon9			GAAGAAGCTCGGG	AF517524	CCDS2273.1	2q31.2	2013-02-12		2008-04-18	ENSG00000170144	ENSG00000170144		"""RNA binding motif (RRM) containing"""	24941	protein-coding gene	gene with protein product		605372		HNRPA3		11886857, 15776420	Standard	XM_005246380		Approved		uc002ulc.1	P51991	OTTHUMG00000132529	ENST00000392524.2:c.1064G>A	2.37:g.178083867G>A	ENSP00000376309:p.Ser355Asn	39	0		28	10	NM_194247	0	0	163	279	116	D3DPF4|Q53RW7|Q6URK5	Missense_Mutation	SNP	ENST00000392524.2	37	CCDS2273.1	.	.	.	.	.	.	.	.	.	.	g	14.48	2.548584	0.45383	.	.	ENSG00000170144	ENST00000392524;ENST00000411529;ENST00000416446;ENST00000420139;ENST00000435711;ENST00000432457	D;D;D;D	0.86627	-2.15;-2.15;-2.15;-2.15	4.58	4.58	0.56647	.	0.000000	0.52532	U	0.000063	T	0.81168	0.4766	L	0.33668	1.02	0.49915	D	0.999833	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.75693	-0.3229	10	0.18710	T	0.47	.	17.7701	0.88489	0.0:0.0:1.0:0.0	.	333;355	B4DDB6;P51991	.;ROA3_HUMAN	N	355;333;299;300;355;92	ENSP00000376309:S355N;ENSP00000408487:S333N;ENSP00000416340:S355N;ENSP00000400688:S92N	ENSP00000376309:S355N	S	+	2	0	HNRNPA3	177792113	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.364000	0.66110	2.275000	0.75901	0.580000	0.79431	AGC	.		0.353	HNRNPA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255729.3	NM_194247	
AGPS	8540	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	178285080	178285080	+	Missense_Mutation	SNP	G	G	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:178285080G>T	ENST00000264167.4	+	2	490	c.344G>T	c.(343-345)gGg>gTg	p.G115V	AGPS_ENST00000409888.1_Missense_Mutation_p.G115V	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	alkylglycerone phosphate synthase	115					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|lipid biosynthetic process (GO:0008610)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	alkylglycerone-phosphate synthase activity (GO:0008609)|FAD binding (GO:0071949)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			GAATTGACTGGGAAAAGGTAA	0.308																																					p.G115V		.											.	AGPS-92	0			c.G344T						.						141.0	157.0	152.0					2																	178285080		2203	4293	6496	SO:0001583	missense	8540	exon2			TGACTGGGAAAAG	Y09443	CCDS2275.1	2q	2008-02-05			ENSG00000018510	ENSG00000018510	2.5.1.26		327	protein-coding gene	gene with protein product		603051				9187299, 9553082	Standard	NM_003659		Approved	ADHAPS, ADAS, ALDHPSY, ADPS, ADAP-S	uc002ull.2	O00116	OTTHUMG00000132530	ENST00000264167.4:c.344G>T	2.37:g.178285080G>T	ENSP00000264167:p.Gly115Val	77	0		82	33	NM_003659	0	0	0	0	0	A5D8U9|Q2TU35	Missense_Mutation	SNP	ENST00000264167.4	37	CCDS2275.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.494327	0.85069	.	.	ENSG00000018510	ENST00000264167;ENST00000409888	T;T	0.37752	1.18;1.18	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.67776	0.2929	M	0.86864	2.845	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.72750	-0.4199	10	0.87932	D	0	.	19.4191	0.94713	0.0:0.0:1.0:0.0	.	115	O00116	ADAS_HUMAN	V	115	ENSP00000264167:G115V;ENSP00000386688:G115V	ENSP00000264167:G115V	G	+	2	0	AGPS	177993326	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.406000	0.90216	2.699000	0.92147	0.591000	0.81541	GGG	.		0.308	AGPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255730.2		
TTN	7273	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	179401241	179401241	+	Silent	SNP	C	C	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:179401241C>A	ENST00000591111.1	-	307	95534	c.95310G>T	c.(95308-95310)gtG>gtT	p.V31770V	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN_ENST00000359218.5_Silent_p.V24471V|TTN_ENST00000460472.2_Silent_p.V24346V|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Silent_p.V30843V|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN_ENST00000589042.1_Silent_p.V33411V|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.V24538V			Q8WZ42	TITIN_HUMAN	titin	31770	Fibronectin type-III 131. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			GCTTCCAGGCCACAACACAAG	0.408																																					p.V33411V		.											.	TTN-636	0			c.G100233T						.						66.0	65.0	65.0					2																	179401241		1839	4099	5938	SO:0001819	synonymous_variant	7273	exon357			CCAGGCCACAACA	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.95310G>T	2.37:g.179401241C>A		51	0		56	25	NM_001267550	0	0	0	0	0	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	Silent	SNP	ENST00000591111.1	37																																																																																				.		0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	179410344	179410344	+	Silent	SNP	A	A	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:179410344A>T	ENST00000591111.1	-	294	90794	c.90570T>A	c.(90568-90570)ccT>ccA	p.P30190P	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.P22891P|TTN_ENST00000460472.2_Silent_p.P22766P|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Silent_p.P29263P|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Silent_p.P31831P|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.P22958P			Q8WZ42	TITIN_HUMAN	titin	30190	Fibronectin type-III 120. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			CATCAGATTCAGGTTTTGTCC	0.443																																					p.P31831P		.											.	TTN-636	0			c.T95493A						.						246.0	237.0	240.0					2																	179410344		1996	4167	6163	SO:0001819	synonymous_variant	7273	exon344			AGATTCAGGTTTT	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.90570T>A	2.37:g.179410344A>T		208	1		286	130	NM_001267550	0	0	0	0	0	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	Silent	SNP	ENST00000591111.1	37																																																																																				.		0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	179445148	179445148	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:179445148G>A	ENST00000591111.1	-	267	62259	c.62035C>T	c.(62035-62037)Cgc>Tgc	p.R20679C	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R13380C|TTN_ENST00000460472.2_Missense_Mutation_p.R13255C|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R19752C|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R22320C|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R13447C			Q8WZ42	TITIN_HUMAN	titin	20679					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)			TTTTCACAGCGCAAGAAAGTG	0.398																																					p.R22320C		.											.	TTN-636	0			c.C66958T						.						157.0	142.0	147.0					2																	179445148		1881	4103	5984	SO:0001583	missense	7273	exon317			CACAGCGCAAGAA	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.62035C>T	2.37:g.179445148G>A	ENSP00000465570:p.Arg20679Cys	117	1		139	57	NM_001267550	0	0	0	0	0	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		.	.	.	.	.	.	.	.	.	.	G	10.69	1.422521	0.25639	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4	5.34	4.45	0.53987	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.69233	0.3088	L	0.33137	0.985	0.48236	D	0.999617	D;D;D;D	0.76494	0.999;0.999;0.999;0.998	P;P;P;P	0.57679	0.825;0.825;0.825;0.761	T	0.73142	-0.4076	9	0.87932	D	0	.	14.3554	0.66733	0.0726:0.0:0.9274:0.0	.	13255;13380;13447;20679	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	19752;13255;13447;13380;13253	ENSP00000343764:R19752C;ENSP00000434586:R13255C;ENSP00000340554:R13447C;ENSP00000352154:R13380C	ENSP00000340554:R13447C	R	-	1	0	TTN	179153394	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.879000	0.63100	1.223000	0.43536	0.563000	0.77884	CGC	.		0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
FAM171B	165215	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	187627230	187627230	+	Missense_Mutation	SNP	G	G	A	rs144563922		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:187627230G>A	ENST00000304698.5	+	8	2364	c.2161G>A	c.(2161-2163)Gag>Aag	p.E721K		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	721						integral component of membrane (GO:0016021)	DNA binding (GO:0003677)			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TAGAAAGCTCGAGAGGGAGAA	0.463																																					p.E721K		.											.	FAM171B-141	0			c.G2161A						.	G	LYS/GLU	0,4406		0,0,2203	69.0	72.0	71.0		2161	6.0	1.0	2	dbSNP_134	71	1,8599	1.2+/-3.3	0,1,4299	no	missense	FAM171B	NM_177454.3	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	721/827	187627230	1,13005	2203	4300	6503	SO:0001583	missense	165215	exon8			AAGCTCGAGAGGG	AF361495	CCDS33347.1	2q32.2	2008-06-16	2008-06-16	2008-06-16	ENSG00000144369	ENSG00000144369			29412	protein-coding gene	gene with protein product			"""KIAA1946"""	KIAA1946		11853319	Standard	NM_177454		Approved	FLJ34104	uc002ups.3	Q6P995	OTTHUMG00000154278	ENST00000304698.5:c.2161G>A	2.37:g.187627230G>A	ENSP00000304108:p.Glu721Lys	108	0		135	69	NM_177454	0	0	0	1	1	Q53SK3|Q8N1Y4|Q8N3K1|Q8N970|Q8NB81|Q8TF55|Q8WYR8	Missense_Mutation	SNP	ENST00000304698.5	37	CCDS33347.1	.	.	.	.	.	.	.	.	.	.	G	19.68	3.873508	0.72180	0.0	1.16E-4	ENSG00000144369	ENST00000304698	T	0.27402	1.67	6.02	6.02	0.97574	.	0.048661	0.85682	D	0.000000	T	0.45617	0.1351	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.16012	-1.0417	10	0.35671	T	0.21	-22.8342	20.547	0.99278	0.0:0.0:1.0:0.0	.	721;722	Q6P995;A8K122	F171B_HUMAN;.	K	721	ENSP00000304108:E721K	ENSP00000304108:E721K	E	+	1	0	FAM171B	187335475	1.000000	0.71417	0.975000	0.42487	0.989000	0.77384	9.113000	0.94321	2.850000	0.98022	0.650000	0.86243	GAG	G|1.000;A|0.000		0.463	FAM171B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334679.1	NM_177454	
TFPI	7035	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	188348876	188348876	+	Missense_Mutation	SNP	T	T	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:188348876T>G	ENST00000233156.3	-	6	897	c.603A>C	c.(601-603)caA>caC	p.Q201H	AC007319.1_ENST00000453517.1_RNA|AC007319.1_ENST00000412276.1_RNA|TFPI_ENST00000339091.4_Missense_Mutation_p.Q201H|TFPI_ENST00000409676.1_Missense_Mutation_p.Q201H|TFPI_ENST00000392365.1_Missense_Mutation_p.Q201H	NM_006287.4	NP_006278.1	P10646	TFPI1_HUMAN	tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)	201					blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)|Dalteparin(DB06779)	CCTTGGTTGATTGCGGAGTCA	0.378																																					p.Q201H		.											.	TFPI-91	0			c.A603C						.						100.0	102.0	102.0					2																	188348876		2203	4299	6502	SO:0001583	missense	7035	exon6			GGTTGATTGCGGA		CCDS2294.1, CCDS33349.1	2q32	2008-06-02			ENSG00000003436	ENSG00000003436			11760	protein-coding gene	gene with protein product	"""extrinsic pathway inhibitor"""	152310		LACI		1993173	Standard	XM_005246818		Approved	EPI, TFI, TFPI1	uc002upy.3	P10646	OTTHUMG00000132634	ENST00000233156.3:c.603A>C	2.37:g.188348876T>G	ENSP00000233156:p.Gln201His	72	0		90	44	NM_001032281	0	0	11	11	0	O95103|Q53TS4	Missense_Mutation	SNP	ENST00000233156.3	37	CCDS2294.1	.	.	.	.	.	.	.	.	.	.	T	16.19	3.053624	0.55218	.	.	ENSG00000003436	ENST00000392365;ENST00000233156;ENST00000426055;ENST00000435414;ENST00000409676;ENST00000339091	T;T;T;T;T;T	0.65549	0.46;0.46;0.3;-0.14;-0.16;-0.16	5.63	-4.94	0.03057	.	1.523740	0.03328	N	0.193002	T	0.56292	0.1975	M	0.64997	1.995	0.09310	N	1	B;B	0.27380	0.121;0.177	B;B	0.28232	0.087;0.059	T	0.48139	-0.9061	10	0.42905	T	0.14	.	7.0314	0.24969	0.0:0.4963:0.2151:0.2886	.	201;201	P10646-2;P10646	.;TFPI1_HUMAN	H	201;201;201;188;201;201	ENSP00000376172:Q201H;ENSP00000233156:Q201H;ENSP00000397248:Q201H;ENSP00000409177:Q188H;ENSP00000386344:Q201H;ENSP00000342306:Q201H	ENSP00000233156:Q201H	Q	-	3	2	TFPI	188057121	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-1.881000	0.01626	-0.904000	0.03876	0.533000	0.62120	CAA	.		0.378	TFPI-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255881.1	NM_006287	
SLC40A1	30061	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	190436531	190436531	+	Missense_Mutation	SNP	T	T	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:190436531T>A	ENST00000261024.2	-	5	850	c.424A>T	c.(424-426)Att>Ttt	p.I142F		NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated transporter), member 1	142					anatomical structure morphogenesis (GO:0009653)|cellular iron ion homeostasis (GO:0006879)|endothelium development (GO:0003158)|iron ion transmembrane transport (GO:0034755)|lymphocyte homeostasis (GO:0002260)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of apoptotic process (GO:0043066)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|spleen trabecula formation (GO:0060345)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	iron ion transmembrane transporter activity (GO:0005381)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			AAATTTGCAATATTTGCAATA	0.368																																					p.I142F		.											.	SLC40A1-91	0			c.A424T						.						102.0	102.0	102.0					2																	190436531		2203	4300	6503	SO:0001583	missense	30061	exon5			TTGCAATATTTGC	AF215636	CCDS2299.1	2q32	2014-09-17	2003-06-04	2003-06-05	ENSG00000138449	ENSG00000138449		"""Solute carriers"""	10909	protein-coding gene	gene with protein product	"""ferroportin 1"""	604653	"""solute carrier family 11 (proton-coupled divalent metal ion transporters), member 3"""	SLC11A3		10828623	Standard	NM_014585		Approved	MTP1, IREG1, FPN1, HFE4	uc002uqp.4	Q9NP59	OTTHUMG00000132662	ENST00000261024.2:c.424A>T	2.37:g.190436531T>A	ENSP00000261024:p.Ile142Phe	161	0		213	71	NM_014585	0	0	10	10	0	Q6FI62|Q7Z4F8|Q8IVB2|Q9NRL0	Missense_Mutation	SNP	ENST00000261024.2	37	CCDS2299.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.132284	0.77662	.	.	ENSG00000138449	ENST00000261024;ENST00000427241	T;D	0.94828	-1.49;-3.53	5.29	2.91	0.33838	Major facilitator superfamily domain, general substrate transporter (1);	0.246278	0.46758	D	0.000265	D	0.93674	0.7979	L	0.55743	1.74	0.80722	D	1	P	0.48350	0.909	P	0.51266	0.664	D	0.91787	0.5440	10	0.59425	D	0.04	-11.909	9.6627	0.39965	0.0:0.141:0.0:0.859	.	142	Q9NP59	S40A1_HUMAN	F	142	ENSP00000261024:I142F;ENSP00000390005:I142F	ENSP00000261024:I142F	I	-	1	0	SLC40A1	190144776	1.000000	0.71417	0.961000	0.40146	0.992000	0.81027	4.123000	0.57917	0.472000	0.27344	0.533000	0.62120	ATT	.		0.368	SLC40A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255916.2		
SLC40A1	30061	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	190436542	190436542	+	Missense_Mutation	SNP	G	G	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:190436542G>C	ENST00000261024.2	-	5	839	c.413C>G	c.(412-414)aCt>aGt	p.T138S		NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated transporter), member 1	138					anatomical structure morphogenesis (GO:0009653)|cellular iron ion homeostasis (GO:0006879)|endothelium development (GO:0003158)|iron ion transmembrane transport (GO:0034755)|lymphocyte homeostasis (GO:0002260)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of apoptotic process (GO:0043066)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|spleen trabecula formation (GO:0060345)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	iron ion transmembrane transporter activity (GO:0005381)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			ATTTGCAATAGTGATGATCAG	0.373																																					p.T138S		.											.	SLC40A1-91	0			c.C413G						.						99.0	99.0	99.0					2																	190436542		2203	4300	6503	SO:0001583	missense	30061	exon5			GCAATAGTGATGA	AF215636	CCDS2299.1	2q32	2014-09-17	2003-06-04	2003-06-05	ENSG00000138449	ENSG00000138449		"""Solute carriers"""	10909	protein-coding gene	gene with protein product	"""ferroportin 1"""	604653	"""solute carrier family 11 (proton-coupled divalent metal ion transporters), member 3"""	SLC11A3		10828623	Standard	NM_014585		Approved	MTP1, IREG1, FPN1, HFE4	uc002uqp.4	Q9NP59	OTTHUMG00000132662	ENST00000261024.2:c.413C>G	2.37:g.190436542G>C	ENSP00000261024:p.Thr138Ser	153	0		190	61	NM_014585	0	0	20	21	1	Q6FI62|Q7Z4F8|Q8IVB2|Q9NRL0	Missense_Mutation	SNP	ENST00000261024.2	37	CCDS2299.1	.	.	.	.	.	.	.	.	.	.	G	9.855	1.194620	0.22037	.	.	ENSG00000138449	ENST00000261024;ENST00000427241	T;T	0.80738	-1.41;-1.41	5.29	2.34	0.29019	Major facilitator superfamily domain, general substrate transporter (1);	0.494047	0.24117	N	0.041394	T	0.68063	0.2960	N	0.17474	0.49	0.38515	D	0.948563	B	0.09022	0.002	B	0.13407	0.009	T	0.62914	-0.6753	10	0.34782	T	0.22	-7.6436	16.5861	0.84727	0.0:0.3642:0.6358:0.0	.	138	Q9NP59	S40A1_HUMAN	S	138	ENSP00000261024:T138S;ENSP00000390005:T138S	ENSP00000261024:T138S	T	-	2	0	SLC40A1	190144787	1.000000	0.71417	0.994000	0.49952	0.994000	0.84299	3.142000	0.50601	0.791000	0.33826	-0.176000	0.13171	ACT	.		0.373	SLC40A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255916.2		
DNAH7	56171	hgsc.bcm.edu	37	2	196788374	196788374	+	Frame_Shift_Del	DEL	T	T	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:196788374delT	ENST00000312428.6	-	23	3870	c.3770delA	c.(3769-3771)aatfs	p.N1257fs		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1257	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATCGCTAATATTTTTTTTTAC	0.418																																					p.N1257fs		.											.	DNAH7-102	0			c.3770delA						.						103.0	95.0	97.0					2																	196788374		1906	4139	6045	SO:0001589	frameshift_variant	56171	exon23			CTAATATTTTTTT	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.3770delA	2.37:g.196788374delT	ENSP00000311273:p.Asn1257fs	320	1		355	150	NM_018897	0	0	0	0	0	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Frame_Shift_Del	DEL	ENST00000312428.6	37	CCDS42794.1																																																																																			T|1.000;|0.000		0.418	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897	
DNAH7	56171	broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	196799351	196799351	+	Silent	SNP	A	A	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:196799351A>T	ENST00000312428.6	-	21	3535	c.3435T>A	c.(3433-3435)gtT>gtA	p.V1145V		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1145	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCTCTAATTCAACCAACCACT	0.363																																					p.V1145V		.											.	DNAH7-102	0			c.T3435A						.						186.0	179.0	181.0					2																	196799351		1853	4106	5959	SO:0001819	synonymous_variant	56171	exon21			TAATTCAACCAAC	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.3435T>A	2.37:g.196799351A>T		157	2		174	63	NM_018897	0	0	0	0	0	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Silent	SNP	ENST00000312428.6	37	CCDS42794.1																																																																																			.		0.363	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897	
DNAH7	56171	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	196837087	196837087	+	Missense_Mutation	SNP	G	G	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:196837087G>T	ENST00000312428.6	-	16	2037	c.1937C>A	c.(1936-1938)tCt>tAt	p.S646Y		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	646	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GTCTGCTGGAGAAAAGTTGAC	0.373																																					p.S646Y		.											.	DNAH7-102	0			c.C1937A						.						184.0	165.0	171.0					2																	196837087		1859	4104	5963	SO:0001583	missense	56171	exon16			GCTGGAGAAAAGT	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.1937C>A	2.37:g.196837087G>T	ENSP00000311273:p.Ser646Tyr	139	0		175	76	NM_018897	0	0	0	0	0	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	G	15.20	2.763225	0.49574	.	.	ENSG00000118997	ENST00000312428	T	0.25085	1.82	4.75	4.75	0.60458	.	0.000000	0.64402	D	0.000001	T	0.51991	0.1707	M	0.82923	2.615	0.80722	D	1	D	0.63880	0.993	P	0.61201	0.885	T	0.56709	-0.7934	10	0.44086	T	0.13	.	17.7101	0.88319	0.0:0.0:1.0:0.0	.	646	Q8WXX0	DYH7_HUMAN	Y	646	ENSP00000311273:S646Y	ENSP00000311273:S646Y	S	-	2	0	DNAH7	196545332	1.000000	0.71417	0.995000	0.50966	0.077000	0.17291	6.454000	0.73493	2.350000	0.79820	0.557000	0.71058	TCT	.		0.373	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897	
HECW2	57520	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	197143276	197143276	+	Silent	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:197143276C>T	ENST00000260983.3	-	15	3293	c.3111G>A	c.(3109-3111)agG>agA	p.R1037R	HECW2_ENST00000409111.1_Silent_p.R681R	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	1037	Interaction with TP73.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GGCTGCGTTGCCTTGTCAGGT	0.532																																					p.R1037R		.											.	HECW2-668	0			c.G3111A						.						125.0	107.0	113.0					2																	197143276		2203	4300	6503	SO:0001819	synonymous_variant	57520	exon15			GCGTTGCCTTGTC	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.3111G>A	2.37:g.197143276C>T		148	0		209	83	NM_020760	0	0	1	1	0	B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Silent	SNP	ENST00000260983.3	37	CCDS33354.1																																																																																			.		0.532	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760	
ANKRD44	91526	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	197865169	197865169	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:197865169G>A	ENST00000328737.2	-	23	2494	c.2418C>T	c.(2416-2418)atC>atT	p.I806I	ANKRD44_ENST00000450567.1_Silent_p.I806I|ANKRD44_ENST00000282272.8_Silent_p.I823I|ANKRD44_ENST00000337207.5_Silent_p.I806I			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	831										NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TACAACTGACGATACTGGAAT	0.378																																					p.I831I		.											.	ANKRD44-230	0			c.C2493T						.						148.0	132.0	137.0					2																	197865169		2203	4300	6503	SO:0001819	synonymous_variant	91526	exon23			ACTGACGATACTG	AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	25259	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit B"""						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000328737.2:c.2418C>T	2.37:g.197865169G>A		113	1		128	68	NM_001195144	0	0	3	4	1	Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Silent	SNP	ENST00000328737.2	37		.	.	.	.	.	.	.	.	.	.	G	9.320	1.057761	0.19907	.	.	ENSG00000065413	ENST00000448801	.	.	.	5.95	-4.07	0.03975	.	.	.	.	.	T	0.61714	0.2369	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59747	-0.7396	4	.	.	.	.	12.6573	0.56793	0.6036:0.0:0.3964:0.0	.	.	.	.	C	20	.	.	R	-	1	0	ANKRD44	197573414	0.831000	0.29352	0.894000	0.35097	0.970000	0.65996	0.025000	0.13577	-0.996000	0.03455	-0.880000	0.02959	CGT	.		0.378	ANKRD44-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335113.1	NM_153697	
MARS2	92935	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	198571904	198571904	+	Missense_Mutation	SNP	G	G	A	rs377701225		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:198571904G>A	ENST00000282276.6	+	1	1818	c.1775G>A	c.(1774-1776)cGg>cAg	p.R592Q	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial	592					cell death (GO:0008219)|gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	AAAGCCCACCGGACCTAGAAA	0.423																																					p.R592Q		.											.	MARS2-92	0			c.G1775A						.	G	GLN/ARG	0,4406		0,0,2203	57.0	59.0	58.0		1775	4.0	0.9	2		58	2,8598		0,2,4298	no	missense	MARS2	NM_138395.3	43	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	592/594	198571904	2,13004	2203	4300	6503	SO:0001583	missense	92935	exon1			CCCACCGGACCTA	BC009115	CCDS33358.1	2q33.1	2014-01-30	2007-02-26		ENSG00000247626	ENSG00000247626	6.1.1.10	"""Aminoacyl tRNA synthetases / Class I"""	25133	protein-coding gene	gene with protein product	"""methionine tRNA ligase 2, mitochondrial"""	609728				15274629	Standard	NM_138395		Approved	mtMetRS, SPAX3	uc002uuq.3	Q96GW9	OTTHUMG00000154487	ENST00000282276.6:c.1775G>A	2.37:g.198571904G>A	ENSP00000282276:p.Arg592Gln	79	0		67	25	NM_138395	0	0	26	47	21	A0AVC3|Q76E79|Q8IW62|Q8N7N4	Missense_Mutation	SNP	ENST00000282276.6	37	CCDS33358.1	.	.	.	.	.	.	.	.	.	.	G	12.94	2.087253	0.36855	0.0	2.33E-4	ENSG00000247626	ENST00000282276;ENST00000499940	T	0.44881	0.91	4.93	4.03	0.46877	.	0.220563	0.36893	N	0.002355	T	0.24928	0.0605	N	0.22421	0.69	0.22835	N	0.998676	B	0.18013	0.025	B	0.12156	0.007	T	0.11743	-1.0575	10	0.27082	T	0.32	-7.0331	6.5525	0.22442	0.2184:0.0:0.7815:0.0	.	592	Q96GW9	SYMM_HUMAN	Q	592;519	ENSP00000282276:R592Q	ENSP00000282276:R592Q	R	+	2	0	MARS2	198280149	0.997000	0.39634	0.933000	0.37362	0.961000	0.63080	1.407000	0.34657	1.255000	0.44051	0.557000	0.71058	CGG	.		0.423	MARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335477.1	NM_138395	
C2orf69	205327	broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	200789972	200789972	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:200789972C>T	ENST00000319974.5	+	2	704	c.521C>T	c.(520-522)gCc>gTc	p.A174V	C2orf69_ENST00000491721.1_Intron	NM_153689.5	NP_710156.3	Q8N8R5	CB069_HUMAN	chromosome 2 open reading frame 69	174						extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)|stomach(1)|urinary_tract(1)	11						ATGTTTGGTGCCCCAGAACAC	0.333																																					p.A174V		.											.	C2orf69-23	0			c.C521T						.						114.0	109.0	111.0					2																	200789972		1831	4083	5914	SO:0001583	missense	205327	exon2			TTGGTGCCCCAGA		CCDS46482.1	2q33.1	2008-08-08			ENSG00000178074	ENSG00000178074			26799	protein-coding gene	gene with protein product	"""hypothetical protein FLJ38973"""					12477932	Standard	NM_153689		Approved	FLJ38973	uc010zhb.2	Q8N8R5	OTTHUMG00000154480	ENST00000319974.5:c.521C>T	2.37:g.200789972C>T	ENSP00000312770:p.Ala174Val	136	2		171	81	NM_153689	0	0	21	36	15	Q8NE30	Missense_Mutation	SNP	ENST00000319974.5	37	CCDS46482.1	.	.	.	.	.	.	.	.	.	.	C	15.97	2.989856	0.54041	.	.	ENSG00000178074	ENST00000319974	.	.	.	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.67785	0.2930	L	0.37466	1.105	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.58289	-0.7662	9	0.16420	T	0.52	-14.421	19.5548	0.95338	0.0:1.0:0.0:0.0	.	174	Q8N8R5	CB069_HUMAN	V	174	.	ENSP00000312770:A174V	A	+	2	0	C2orf69	200498217	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	7.794000	0.85869	2.854000	0.98071	0.655000	0.94253	GCC	.		0.333	C2orf69-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335446.1	NM_153689	
BZW1	9689	hgsc.bcm.edu	37	2	201677182	201677182	+	Intron	SNP	C	C	T	rs576867353	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:201677182C>T	ENST00000409600.1	+	1	445				BZW1_ENST00000409226.1_Intron|BZW1_ENST00000452790.2_Missense_Mutation_p.R18C|AC007163.6_ENST00000447972.3_RNA	NM_001207067.1|NM_014670.3	NP_001193996.1|NP_055485.2	Q7L1Q6	BZW1_HUMAN	basic leucine zipper and W2 domains 1						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(1)|kidney(2)|large_intestine(1)|lung(2)	6						GACTGTGGTCCGCTCGTTGCG	0.756													C|||	6	0.00119808	0.0	0.0014	5008	,	,		11576	0.0		0.005	False		,,,				2504	0.0				p.R18C		.											.	BZW1-90	0			c.C52T						.																																			SO:0001627	intron_variant	9689	exon1			GTGGTCCGCTCGT	D13630	CCDS56154.1, CCDS56155.1, CCDS56156.1	2q33	2010-04-09			ENSG00000082153	ENSG00000082153			18380	protein-coding gene	gene with protein product						10964520, 11524015	Standard	NM_001207067		Approved	BZAP45, KIAA0005	uc021vus.1	Q7L1Q6	OTTHUMG00000154560	ENST00000409600.1:c.-11+469C>T	2.37:g.201677182C>T		0	0		13	6	NM_001207068	0	0	0	0	0	B4DLZ8|B4DWF7|Q14281|Q15394|Q9BUY0	Missense_Mutation	SNP	ENST00000409600.1	37	CCDS56156.1	.	.	.	.	.	.	.	.	.	.	C	13.83	2.354102	0.41700	.	.	ENSG00000082153	ENST00000452790	T	0.79141	-1.24	5.31	4.42	0.53409	.	.	.	.	.	T	0.67942	0.2947	.	.	.	0.31435	N	0.672685	B	0.02656	0.0	B	0.01281	0.0	T	0.68599	-0.5366	8	0.87932	D	0	.	8.9455	0.35756	0.0:0.9012:0.0:0.0988	.	18	B4DLZ8	.	C	18	ENSP00000394316:R18C	ENSP00000394316:R18C	R	+	1	0	BZW1	201385427	0.720000	0.27996	0.993000	0.49108	0.002000	0.02628	1.557000	0.36299	2.486000	0.83907	0.585000	0.79938	CGC	.		0.756	BZW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335975.1	NM_014670	
MPP4	58538	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	202520986	202520986	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:202520986G>A	ENST00000409474.3	-	17	1442	c.1235C>T	c.(1234-1236)cCt>cTt	p.P412L	MPP4_ENST00000396886.3_Missense_Mutation_p.P337L|MPP4_ENST00000315506.7_Missense_Mutation_p.P368L|MPP4_ENST00000359962.5_Missense_Mutation_p.P412L|MPP4_ENST00000447335.2_Missense_Mutation_p.P405L|MPP4_ENST00000428900.2_Missense_Mutation_p.P388L|MPP4_ENST00000409143.1_Missense_Mutation_p.P354L	NM_033066.2	NP_149055	Q96JB8	MPP4_HUMAN	membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)	412					protein localization to synapse (GO:0035418)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|presynaptic membrane (GO:0042734)				kidney(1)|lung(11)	12						CTCCTCGTAAGGGGCACCCAC	0.607																																					p.P412L		.											.	MPP4-22	0			c.C1235T						.						30.0	35.0	33.0					2																	202520986		2111	4216	6327	SO:0001583	missense	58538	exon17			TCGTAAGGGGCAC	AF316032	CCDS46491.1	2q33.2	2008-05-15			ENSG00000082126	ENSG00000082126			13680	protein-coding gene	gene with protein product		606575		DLG6		11414766	Standard	NM_033066		Approved		uc002uyk.4	Q96JB8	OTTHUMG00000154525	ENST00000409474.3:c.1235C>T	2.37:g.202520986G>A	ENSP00000387278:p.Pro412Leu	414	0		537	237	NM_033066	0	0	0	0	0	C9IZK4|Q53TT3|Q6ZNH6|Q96Q43|Q96Q44	Missense_Mutation	SNP	ENST00000409474.3	37	CCDS46491.1	.	.	.	.	.	.	.	.	.	.	G	36	5.638918	0.96693	.	.	ENSG00000082126	ENST00000409474;ENST00000315506;ENST00000396886;ENST00000359962;ENST00000315549;ENST00000374605;ENST00000428900;ENST00000409143;ENST00000447335	T;T;T;T;T;T	0.04917	3.57;3.58;3.59;3.53;3.58;3.55	5.67	5.67	0.87782	.	0.062840	0.64402	D	0.000004	T	0.11793	0.0287	L	0.54323	1.7	0.80722	D	1	P;B;P;P;P;P;P;B	0.42785	0.79;0.008;0.686;0.686;0.79;0.544;0.686;0.427	P;B;B;B;B;B;B;B	0.44561	0.453;0.009;0.266;0.209;0.377;0.266;0.266;0.331	T	0.14783	-1.0460	10	0.20046	T	0.44	.	19.3706	0.94481	0.0:0.0:1.0:0.0	.	354;337;388;381;368;405;412;377	F6Q0Y6;B4DUF3;E7ET46;B7ZM19;Q96JB8-2;E7EUL8;Q96JB8;Q96JB8-4	.;.;.;.;.;.;MPP4_HUMAN;.	L	412;368;337;412;377;341;388;354;405	ENSP00000387278:P412L;ENSP00000319363:P368L;ENSP00000353047:P412L;ENSP00000416781:P388L;ENSP00000387293:P354L;ENSP00000406160:P405L	ENSP00000319363:P368L	P	-	2	0	MPP4	202229231	1.000000	0.71417	0.539000	0.28077	0.920000	0.55202	6.873000	0.75541	2.676000	0.91093	0.655000	0.94253	CCT	.		0.607	MPP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335748.2		
ALS2	57679	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	202619338	202619338	+	Missense_Mutation	SNP	T	T	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:202619338T>A	ENST00000264276.6	-	6	1900	c.1528A>T	c.(1528-1530)Acc>Tcc	p.T510S		NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	510					behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						TATGTGGGGGTCAGAACCACT	0.577																																					p.T510S		.											.	ALS2-275	0			c.A1528T						.						103.0	102.0	102.0					2																	202619338		1947	4131	6078	SO:0001583	missense	57679	exon6			TGGGGGTCAGAAC	AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"""Rho guanine nucleotide exchange factors"""	443	protein-coding gene	gene with protein product	"""alsin"""	606352	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"""	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.1528A>T	2.37:g.202619338T>A	ENSP00000264276:p.Thr510Ser	99	1		112	40	NM_020919	0	0	4	4	0	Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Missense_Mutation	SNP	ENST00000264276.6	37	CCDS42800.1	.	.	.	.	.	.	.	.	.	.	T	14.47	2.544396	0.45280	.	.	ENSG00000003393	ENST00000264276	T	0.55588	0.51	5.93	5.93	0.95920	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (1);	0.052129	0.85682	D	0.000000	T	0.58736	0.2143	N	0.24115	0.695	0.80722	D	1	D;B;B	0.71674	0.998;0.349;0.366	D;B;B	0.80764	0.994;0.023;0.047	T	0.54977	-0.8212	10	0.21540	T	0.41	.	16.3839	0.83495	0.0:0.0:0.0:1.0	.	510;510;510	Q96Q42-3;Q6IQ41;Q96Q42	.;.;ALS2_HUMAN	S	510	ENSP00000264276:T510S	ENSP00000264276:T510S	T	-	1	0	ALS2	202327583	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.734000	0.68580	2.258000	0.74832	0.533000	0.62120	ACC	.		0.577	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335562.3	NM_020919	
FZD7	8324	bcgsc.ca	37	2	202900893	202900893	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:202900893G>A	ENST00000286201.1	+	1	1584	c.1523G>A	c.(1522-1524)tGc>tAc	p.C508Y	RP11-107N15.1_ENST00000608741.1_lincRNA	NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled class receptor 7	508					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|mesenchymal to epithelial transition (GO:0060231)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of ectodermal cell fate specification (GO:0042666)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of catenin import into nucleus (GO:0035412)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|stem cell maintenance (GO:0019827)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell differentiation in thymus (GO:0033077)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						CTGCAGACGTGCAAGAGCTAT	0.637											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.C508Y		.											.	FZD7-659	0			c.G1523A						.						54.0	54.0	54.0					2																	202900893		2203	4300	6503	SO:0001583	missense	8324	exon1			AGACGTGCAAGAG	AB010881	CCDS2351.1	2q33	2014-01-29	2014-01-29		ENSG00000155760	ENSG00000155760		"""GPCR / Class F : Frizzled receptors"""	4045	protein-coding gene	gene with protein product		603410	"""frizzled (Drosophila) homolog 7"", ""frizzled homolog 7 (Drosophila)"", ""frizzled 7, seven transmembrane spanning receptor"", ""frizzled family receptor 7"""			9707618, 9813155	Standard	NM_003507		Approved	FzE3	uc002uyw.1	O75084	OTTHUMG00000132841	ENST00000286201.1:c.1523G>A	2.37:g.202900893G>A	ENSP00000286201:p.Cys508Tyr	100	2	2133	132	59	NM_003507	0	0	2	7	5	O94816|Q53S59|Q96B74	Missense_Mutation	SNP	ENST00000286201.1	37	CCDS2351.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.191131	0.78902	.	.	ENSG00000155760	ENST00000286201	D	0.83591	-1.74	5.72	5.72	0.89469	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	D	0.94512	0.8233	H	0.96015	3.755	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95628	0.8687	10	0.87932	D	0	.	19.8753	0.96867	0.0:0.0:1.0:0.0	.	508	O75084	FZD7_HUMAN	Y	508	ENSP00000286201:C508Y	ENSP00000286201:C508Y	C	+	2	0	FZD7	202609138	1.000000	0.71417	0.998000	0.56505	0.965000	0.64279	9.869000	0.99810	2.711000	0.92665	0.655000	0.94253	TGC	.		0.637	FZD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256314.1	NM_003507	
NBEAL1	65065	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	2	204032081	204032081	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:204032081G>A	ENST00000449802.1	+	37	6241	c.5908G>A	c.(5908-5910)Gag>Aag	p.E1970K		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1970										NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TTTCAAAAAAGAGGTATGTAT	0.358																																					p.E1970K		.											.	NBEAL1-92	0			c.G5908A						.						104.0	96.0	98.0					2																	204032081		1799	4075	5874	SO:0001583	missense	65065	exon37			AAAAAAGAGGTAT	AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"""WD repeat domain containing"""	20681	protein-coding gene	gene with protein product		609816	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"""	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.5908G>A	2.37:g.204032081G>A	ENSP00000399903:p.Glu1970Lys	43	0		37	16	NM_001114132	0	0	0	0	0	A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	ENST00000449802.1	37	CCDS46495.1	.	.	.	.	.	.	.	.	.	.	G	12.75	2.032270	0.35893	.	.	ENSG00000144426	ENST00000449802;ENST00000340268;ENST00000414576	T;T	0.52526	0.66;1.19	5.4	5.4	0.78164	PH-BEACH domain (1);	0.769367	0.12780	N	0.439717	T	0.37839	0.1018	L	0.31207	0.915	0.80722	D	1	P;P	0.40431	0.717;0.717	B;B	0.36534	0.227;0.227	T	0.23511	-1.0186	10	0.11794	T	0.64	.	19.1184	0.93351	0.0:0.0:1.0:0.0	.	1970;1959	Q6ZS30;C9JGK5	NBEL1_HUMAN;.	K	1970;1970;17	ENSP00000399903:E1970K;ENSP00000388466:E17K	ENSP00000344985:E1970K	E	+	1	0	NBEAL1	203740326	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	7.976000	0.88070	2.693000	0.91896	0.563000	0.77884	GAG	.		0.358	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4		
FASTKD2	22868	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	207635989	207635989	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:207635989C>T	ENST00000236980.6	+	4	1313	c.965C>T	c.(964-966)cCg>cTg	p.P322L	FASTKD2_ENST00000403094.3_Missense_Mutation_p.P322L|FASTKD2_ENST00000402774.3_Missense_Mutation_p.P322L	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2	322					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		AAAGATGCACCGATTGCTCTT	0.348																																					p.P322L		.											.	FASTKD2-118	0			c.C965T						.						91.0	86.0	88.0					2																	207635989		2203	4300	6503	SO:0001583	missense	22868	exon4			ATGCACCGATTGC	BC001544	CCDS2371.1	2q33.3	2008-02-05	2006-07-07	2006-07-07	ENSG00000118246	ENSG00000118246			29160	protein-coding gene	gene with protein product		612322	"""KIAA0971"""	KIAA0971			Standard	NM_014929		Approved		uc002vbx.3	Q9NYY8	OTTHUMG00000132917	ENST00000236980.6:c.965C>T	2.37:g.207635989C>T	ENSP00000236980:p.Pro322Leu	51	0		60	23	NM_001136193	0	0	27	56	29	Q9NVX6|Q9Y2H7	Missense_Mutation	SNP	ENST00000236980.6	37	CCDS2371.1	.	.	.	.	.	.	.	.	.	.	C	16.94	3.260759	0.59431	.	.	ENSG00000118246	ENST00000236980;ENST00000402774;ENST00000403094	T;T;T	0.19250	2.16;2.16;2.16	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.49813	0.1579	M	0.77103	2.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.48479	-0.9032	10	0.51188	T	0.08	-22.3287	18.1308	0.89600	0.0:1.0:0.0:0.0	.	322;322	Q9NYY8-2;Q9NYY8	.;FAKD2_HUMAN	L	322	ENSP00000236980:P322L;ENSP00000385990:P322L;ENSP00000384929:P322L	ENSP00000236980:P322L	P	+	2	0	FASTKD2	207344234	1.000000	0.71417	0.953000	0.39169	0.162000	0.22319	5.645000	0.67909	2.568000	0.86640	0.305000	0.20034	CCG	.		0.348	FASTKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256428.2	NM_014929	
PLEKHM3	389072	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	208725974	208725974	+	Missense_Mutation	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:208725974T>C	ENST00000427836.2	-	7	2452	c.1963A>G	c.(1963-1965)Aag>Gag	p.K655E	PLEKHM3_ENST00000389247.4_Missense_Mutation_p.K655E	NM_001080475.2	NP_001073944.1	Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	655					intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGAGCCAGCTTTCCCTCTATT	0.438																																					p.K655E		.											.	PLEKHM3-23	0			c.A1963G						.						96.0	92.0	93.0					2																	208725974		1935	4139	6074	SO:0001583	missense	389072	exon7			CCAGCTTTCCCTC	AK057612	CCDS42808.1	2q33.3	2013-01-10	2008-04-03	2008-04-03	ENSG00000178385	ENSG00000178385		"""Pleckstrin homology (PH) domain containing"""	34006	protein-coding gene	gene with protein product	"""differentiation associated protein"""		"""pleckstrin homology domain containing, family M, member 1-like"""	PLEKHM1L		19028694	Standard	NM_001080475		Approved	DAPR	uc002vcl.2	Q6ZWE6	OTTHUMG00000154781	ENST00000427836.2:c.1963A>G	2.37:g.208725974T>C	ENSP00000417003:p.Lys655Glu	97	0		120	50	NM_001080475	0	0	0	3	3	B9EKV2|Q8WW68	Missense_Mutation	SNP	ENST00000427836.2	37	CCDS42808.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.85|15.85	2.953465|2.953465	0.53293|0.53293	.|.	.|.	ENSG00000178385|ENSG00000178385	ENST00000427836;ENST00000389247|ENST00000447645	D;D|.	0.82893|.	-1.66;-1.66|.	5.2|5.2	5.2|5.2	0.72013|0.72013	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.51126|0.51126	0.1656|0.1656	N|N	0.20401|0.20401	0.57|0.57	0.58432|0.58432	D|D	0.999993|0.999993	D|.	0.63046|.	0.992|.	D|.	0.64877|.	0.93|.	T|T	0.47611|0.47611	-0.9104|-0.9104	10|6	0.19590|.	T|.	0.45|.	.|.	15.5333|15.5333	0.75980|0.75980	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	655|.	Q6ZWE6|.	PKHM3_HUMAN|.	E|R	655|406	ENSP00000417003:K655E;ENSP00000373899:K655E|.	ENSP00000373899:K655E|.	K|K	-|-	1|2	0|0	PLEKHM3|PLEKHM3	208434219|208434219	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	5.982000|5.982000	0.70532|0.70532	2.302000|2.302000	0.77476|0.77476	0.533000|0.533000	0.62120|0.62120	AAG|AAA	.		0.438	PLEKHM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337036.1	NM_001080475	
CRYGD	1421	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	2	208986447	208986447	+	Frame_Shift_Del	DEL	C	C	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:208986447delC	ENST00000264376.4	-	3	502	c.475delG	c.(475-477)gccfs	p.A159fs		NM_006891.3	NP_008822.2	P07320	CRGD_HUMAN	crystallin, gamma D	159	Beta/gamma crystallin 'Greek key' 4. {ECO:0000255|PROSITE-ProRule:PRU00028}.				cellular response to reactive oxygen species (GO:0034614)|lens development in camera-type eye (GO:0002088)|lens fiber cell differentiation (GO:0070306)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	structural constituent of eye lens (GO:0005212)			breast(1)|endometrium(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		GCATTCGTGGCCCCCCAGTCC	0.502																																					p.A159fs		.											.	CRYGD-90	0			c.475delG						.						61.0	60.0	60.0					2																	208986447		2203	4300	6503	SO:0001589	frameshift_variant	1421	exon3			TCGTGGCCCCCCA		CCDS2378.1	2q33.3	2013-02-14			ENSG00000118231	ENSG00000118231			2411	protein-coding gene	gene with protein product		123690		CRYG4			Standard	NM_006891		Approved		uc002vcn.4	P07320	OTTHUMG00000132944	ENST00000264376.4:c.475delG	2.37:g.208986447delC	ENSP00000264376:p.Ala159fs	91	0		106	39	NM_006891	0	0	0	0	0	Q17RF7|Q53R51|Q99681	Frame_Shift_Del	DEL	ENST00000264376.4	37	CCDS2378.1																																																																																			.		0.502	CRYGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256476.2	NM_006891	
ERBB4	2066	broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	212589889	212589889	+	Missense_Mutation	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:212589889T>C	ENST00000342788.4	-	6	963	c.653A>G	c.(652-654)gAc>gGc	p.D218G	ERBB4_ENST00000484474.1_5'UTR|ERBB4_ENST00000402597.1_Missense_Mutation_p.D218G|ERBB4_ENST00000436443.1_Missense_Mutation_p.D218G	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	218	Cys-rich.				cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	GCATCTGCCGTCACATTGTTC	0.507										TSP Lung(8;0.080)																											p.D218G		.											.	ERBB4-1461	0			c.A653G						.						147.0	128.0	135.0					2																	212589889		2203	4300	6503	SO:0001583	missense	2066	exon6			CTGCCGTCACATT	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.653A>G	2.37:g.212589889T>C	ENSP00000342235:p.Asp218Gly	217	2		298	120	NM_001042599	0	0	0	0	0	B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	CCDS2394.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.72|18.72	3.684146|3.684146	0.68157|0.68157	.|.	.|.	ENSG00000178568|ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597|ENST00000260943	T;T;T|.	0.28895|.	1.59;1.59;1.59|.	5.73|5.73	5.73|5.73	0.89815|0.89815	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.50292|0.50292	0.1607|0.1607	N|N	0.17082|0.17082	0.46|0.46	0.80722|0.80722	D|D	1|1	D;B;P;D;D|.	0.89917|.	1.0;0.081;0.66;1.0;1.0|.	D;B;P;D;D|.	0.91635|.	0.998;0.279;0.594;0.998;0.999|.	T|T	0.47509|0.47509	-0.9112|-0.9112	10|5	0.46703|.	T|.	0.11|.	.|.	16.0139|16.0139	0.80422|0.80422	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	218;218;77;218;218|.	Q15303-4;Q15303-2;Q53QS8;Q15303-3;Q15303|.	.;.;.;.;ERBB4_HUMAN|.	G|A	218|218	ENSP00000342235:D218G;ENSP00000403204:D218G;ENSP00000385565:D218G|.	ENSP00000342235:D218G|.	D|T	-|-	2|1	0|0	ERBB4|ERBB4	212298134|212298134	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.960000|0.960000	0.62799|0.62799	8.040000|8.040000	0.89188|0.89188	2.188000|2.188000	0.69820|0.69820	0.528000|0.528000	0.53228|0.53228	GAC|ACG	.		0.507	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599	
FN1	2335	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	216244003	216244003	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:216244003G>A	ENST00000359671.1	-	33	5464	c.5199C>T	c.(5197-5199)gtC>gtT	p.V1733V	FN1_ENST00000346544.3_Silent_p.V1733V|FN1_ENST00000421182.1_Silent_p.V1643V|FN1_ENST00000336916.4_Silent_p.V1733V|FN1_ENST00000490833.1_5'UTR|FN1_ENST00000357009.2_Silent_p.V1733V|FN1_ENST00000354785.4_Silent_p.V1824V|FN1_ENST00000432072.2_Silent_p.V1734V|FN1_ENST00000357867.4_Silent_p.V1643V|FN1_ENST00000356005.4_Silent_p.V1643V|FN1_ENST00000446046.1_Silent_p.V1733V|FN1_ENST00000323926.6_Silent_p.V1824V|FN1_ENST00000345488.5_Silent_p.V1733V|FN1_ENST00000443816.1_Silent_p.V1643V			P02751	FINC_HUMAN	fibronectin 1	1733	Fibronectin type-III 13. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Heparin-binding 2.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	TTGTGGGTGTGACCTGAGTGA	0.498																																					p.V1824V		.											.	FN1-584	0			c.C5472T						.						108.0	104.0	105.0					2																	216244003		2203	4300	6503	SO:0001819	synonymous_variant	2335	exon34			GGGTGTGACCTGA		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.5199C>T	2.37:g.216244003G>A		147	0		197	96	NM_212482	0	1	143	212	68	B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Silent	SNP	ENST00000359671.1	37																																																																																				.		0.498	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476	
TNS1	7145	broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	218686598	218686598	+	Missense_Mutation	SNP	G	G	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:218686598G>C	ENST00000171887.4	-	23	3577	c.3125C>G	c.(3124-3126)tCt>tGt	p.S1042C	TNS1_ENST00000430930.1_Missense_Mutation_p.S1021C|TNS1_ENST00000419504.1_Missense_Mutation_p.S1029C	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1042					cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		CTTGGGCTCAGAGTCCTGAGC	0.632																																					p.S1042C		.											.	TNS1-156	0			c.C3125G						.						20.0	22.0	21.0					2																	218686598		2199	4297	6496	SO:0001583	missense	7145	exon23			GGCTCAGAGTCCT	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	11973	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 155"""	600076	"""tensin"", ""matrix-remodelling associated 6"""	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.3125C>G	2.37:g.218686598G>C	ENSP00000171887:p.Ser1042Cys	176	2		204	86	NM_022648	0	0	17	30	13	Q4ZG71|Q6IPI5	Missense_Mutation	SNP	ENST00000171887.4	37	CCDS2407.1	.	.	.	.	.	.	.	.	.	.	G	10.24	1.296561	0.23650	.	.	ENSG00000079308	ENST00000171887;ENST00000446688;ENST00000419504;ENST00000430930	D;T;D;D	0.91351	-2.83;2.24;-2.79;-2.8	4.11	3.21	0.36854	.	0.793790	0.09476	U	0.797078	T	0.81531	0.4842	N	0.08118	0	0.26179	N	0.979753	B;B;B	0.24368	0.102;0.102;0.102	B;B;B	0.27262	0.078;0.078;0.078	T	0.70353	-0.4895	10	0.38643	T	0.18	.	10.1595	0.42842	0.1042:0.0:0.8958:0.0	.	1042;1021;1029	Q9HBL0;E9PGF5;E9PF55	TENS1_HUMAN;.;.	C	1042;180;1029;1021	ENSP00000171887:S1042C;ENSP00000394171:S180C;ENSP00000408724:S1029C;ENSP00000406016:S1021C	ENSP00000171887:S1042C	S	-	2	0	TNS1	218394843	0.460000	0.25776	0.815000	0.32552	0.846000	0.48090	4.498000	0.60373	0.815000	0.34398	0.561000	0.74099	TCT	.		0.632	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648	
TMBIM1	64114	broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	219146728	219146728	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:219146728C>T	ENST00000444881.1	-	3	862	c.137G>A	c.(136-138)gGc>gAc	p.G46D	TMBIM1_ENST00000258412.3_Missense_Mutation_p.G46D|TMBIM1_ENST00000396809.2_Missense_Mutation_p.G46D|TMBIM1_ENST00000445635.1_Intron|PNKD_ENST00000472650.1_Intron|PNKD_ENST00000273077.4_Intron			Q969X1	LFG3_HUMAN	transmembrane BAX inhibitor motif containing 1	46					negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of Fas signaling pathway (GO:1902045)|negative regulation of metalloenzyme activity (GO:0048553)|positive regulation of blood vessel remodeling (GO:2000504)	endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	death receptor binding (GO:0005123)			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(2)	9		Renal(207;0.0474)		Epithelial(149;8.56e-07)|all cancers(144;0.000154)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTGACCGTAGCCAGGCTGCGG	0.677																																					p.G46D		.											.	TMBIM1-90	0			c.G137A						.						23.0	25.0	24.0					2																	219146728		2202	4300	6502	SO:0001583	missense	64114	exon2			CCGTAGCCAGGCT	BN000408	CCDS2412.1	2q35	2010-03-18			ENSG00000135926	ENSG00000135926			23410	protein-coding gene	gene with protein product		610364				12477932	Standard	NM_022152		Approved	PP1201, RECS1, LFG3	uc002vhp.1	Q969X1	OTTHUMG00000133105	ENST00000444881.1:c.137G>A	2.37:g.219146728C>T	ENSP00000409738:p.Gly46Asp	95	1		139	66	NM_022152	0	0	15	44	29	B3KQY6|Q8N1R3|Q8TAM3|Q96K13	Missense_Mutation	SNP	ENST00000444881.1	37	CCDS2412.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.023606	0.75390	.	.	ENSG00000135926	ENST00000258412;ENST00000444881;ENST00000396809;ENST00000429501;ENST00000425694;ENST00000418569;ENST00000440422;ENST00000444183;ENST00000453776;ENST00000444000;ENST00000453281;ENST00000451181;ENST00000434015;ENST00000413976	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.56611	0.45;0.45;0.45;0.45;0.45;0.45;0.45;0.45;0.45;0.45;0.45;0.45;0.45;0.45	4.75	3.84	0.44239	.	0.543470	0.20935	N	0.083040	T	0.58764	0.2145	M	0.80982	2.52	0.80722	D	1	D	0.54601	0.967	P	0.49683	0.619	T	0.60880	-0.7175	10	0.10111	T	0.7	-8.579	12.4075	0.55449	0.0:0.8291:0.1709:0.0	.	46	Q969X1	TMBI1_HUMAN	D	46	ENSP00000258412:G46D;ENSP00000409738:G46D;ENSP00000380025:G46D;ENSP00000399987:G46D;ENSP00000399345:G46D;ENSP00000406744:G46D;ENSP00000412518:G46D;ENSP00000410136:G46D;ENSP00000410771:G46D;ENSP00000403462:G46D;ENSP00000395614:G46D;ENSP00000394946:G46D;ENSP00000405516:G46D;ENSP00000408729:G46D	ENSP00000258412:G46D	G	-	2	0	TMBIM1	218854972	0.994000	0.37717	1.000000	0.80357	0.921000	0.55340	2.228000	0.42981	1.154000	0.42482	0.655000	0.94253	GGC	.		0.677	TMBIM1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338559.1	NM_022152	
SLC11A1	6556	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	219251383	219251383	+	Missense_Mutation	SNP	C	C	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:219251383C>A	ENST00000233202.6	+	5	759	c.419C>A	c.(418-420)aCc>aAc	p.T140N	SLC11A1_ENST00000539932.1_Missense_Mutation_p.T22N|SLC11A1_ENST00000473367.1_3'UTR	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1	140					activation of protein kinase activity (GO:0032147)|antigen processing and presentation of peptide antigen (GO:0048002)|cadmium ion transmembrane transport (GO:0070574)|cellular cadmium ion homeostasis (GO:0006876)|cellular iron ion homeostasis (GO:0006879)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|defense response to protozoan (GO:0042832)|divalent metal ion export (GO:0070839)|inflammatory response (GO:0006954)|interaction with host (GO:0051701)|interleukin-2 production (GO:0032623)|interleukin-3 production (GO:0032632)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)|L-arginine import (GO:0043091)|macrophage activation (GO:0042116)|manganese ion transport (GO:0006828)|MHC class II biosynthetic process (GO:0045342)|mRNA stabilization (GO:0048255)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of cytokine production (GO:0001818)|nitrite transport (GO:0015707)|phagocytosis (GO:0006909)|phagosome maturation (GO:0090382)|positive regulation of cytokine production (GO:0001819)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of gene expression (GO:0010628)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of phagocytosis (GO:0050766)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein import into nucleus, translocation (GO:0000060)|respiratory burst (GO:0045730)|response to bacterium (GO:0009617)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|T cell cytokine production (GO:0002369)|T cell proliferation involved in immune response (GO:0002309)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)|wound healing (GO:0042060)	cell outer membrane (GO:0009279)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosome (GO:0005764)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|tertiary granule membrane (GO:0070821)	manganese ion transmembrane transporter activity (GO:0005384)|metal ion:proton antiporter activity (GO:0051139)|protein homodimerization activity (GO:0042803)|transition metal ion transmembrane transporter activity (GO:0046915)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTCTGGCTGACCATCGAGCTA	0.567																																					p.T140N		.											.	SLC11A1-93	0			c.C419A						.						88.0	72.0	77.0					2																	219251383		2203	4300	6503	SO:0001583	missense	6556	exon5			GGCTGACCATCGA	D38171	CCDS2415.1	2q35	2013-07-18	2013-07-18		ENSG00000018280	ENSG00000018280		"""Solute carriers"""	10907	protein-coding gene	gene with protein product	"""natural resistance-associated macrophage protein 1"""	600266		LSH, NRAMP, NRAMP1		7964458, 7980580	Standard	NM_000578		Approved		uc002vhv.3	P49279	OTTHUMG00000086747	ENST00000233202.6:c.419C>A	2.37:g.219251383C>A	ENSP00000233202:p.Thr140Asn	76	0		94	50	NM_000578	0	0	1	1	0	C0H5Y3	Missense_Mutation	SNP	ENST00000233202.6	37	CCDS2415.1	.	.	.	.	.	.	.	.	.	.	C	11.42	1.633052	0.29068	.	.	ENSG00000018280	ENST00000233202;ENST00000539932	T;T	0.70164	-0.46;-0.46	5.24	2.49	0.30216	.	0.455087	0.23134	N	0.051555	T	0.53981	0.1830	L	0.42245	1.32	0.29173	N	0.877011	B;B;B	0.15141	0.012;0.001;0.001	B;B;B	0.20577	0.03;0.008;0.008	T	0.53732	-0.8397	10	0.72032	D	0.01	-34.477	5.5108	0.16880	0.0:0.5317:0.0:0.4683	.	140;22;140	B4DQ73;C0H5Y3;P49279	.;.;NRAM1_HUMAN	N	140;22	ENSP00000233202:T140N;ENSP00000443435:T22N	ENSP00000233202:T140N	T	+	2	0	SLC11A1	218959627	1.000000	0.71417	1.000000	0.80357	0.009000	0.06853	2.380000	0.44327	0.907000	0.36646	-0.150000	0.13652	ACC	.		0.567	SLC11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195076.2	NM_000578	
CHPF	79586	hgsc.bcm.edu	37	2	220406784	220406784	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:220406784C>T	ENST00000243776.6	-	2	690	c.442G>A	c.(442-444)Gtg>Atg	p.V148M	CHPF_ENST00000373891.2_Missense_Mutation_p.V148M|CHPF_ENST00000535926.1_De_novo_Start_InFrame|TMEM198_ENST00000373883.3_5'Flank|TMEM198_ENST00000344458.2_5'Flank	NM_024536.5	NP_078812	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	148					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		AGGAACACCACACGCTCCAGC	0.711											OREG0015229	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.V148M		.											.	CHPF-90	0			c.G442A						.						8.0	9.0	8.0					2																	220406784		2183	4252	6435	SO:0001583	missense	79586	exon2			ACACCACACGCTC	BC008878	CCDS2443.1, CCDS56169.1	2q35	2014-02-12			ENSG00000123989	ENSG00000123989	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	24291	protein-coding gene	gene with protein product	"""chondroitin sulfate synthase 2"""	610405				11230166, 12716890	Standard	NM_024536		Approved	CSS2, CHSY2	uc002vmc.4	Q8IZ52	OTTHUMG00000058929	ENST00000243776.6:c.442G>A	2.37:g.220406784C>T	ENSP00000243776:p.Val148Met	4	0	2266	91	44	NM_024536	0	0	44	88	44	B4DXU0|Q6UXD6|Q7L4G1|Q9H0F8|Q9H618	Missense_Mutation	SNP	ENST00000243776.6	37	CCDS2443.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.178352	0.78564	.	.	ENSG00000123989	ENST00000243776;ENST00000373891	T	0.14640	2.49	4.28	4.28	0.50868	.	0.082315	0.48767	D	0.000170	T	0.25754	0.0627	L	0.52573	1.65	0.80722	D	1	D;P	0.57571	0.98;0.941	P;P	0.60068	0.868;0.753	T	0.00371	-1.1782	10	0.49607	T	0.09	-22.9205	11.884	0.52592	0.0:0.669:0.331:0.0	.	148;148	F8W6H2;Q8IZ52	.;CHSS2_HUMAN	M	148	ENSP00000243776:V148M	ENSP00000243776:V148M	V	-	1	0	CHPF	220115028	0.993000	0.37304	1.000000	0.80357	0.830000	0.47004	2.574000	0.46016	2.399000	0.81585	0.448000	0.29417	GTG	.		0.711	CHPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130268.1	NM_024536	
SGPP2	130367	ucsc.edu;bcgsc.ca	37	2	223423173	223423173	+	Silent	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:223423173T>C	ENST00000321276.7	+	5	842	c.756T>C	c.(754-756)tgT>tgC	p.C252C		NM_152386.2	NP_689599.2	Q8IWX5	SGPP2_HUMAN	sphingosine-1-phosphate phosphatase 2	252					dephosphorylation (GO:0016311)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	sphingosine-1-phosphate phosphatase activity (GO:0042392)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	18		Renal(207;0.0376)		Epithelial(121;2.08e-09)|all cancers(144;9.25e-07)|LUSC - Lung squamous cell carcinoma(224;0.011)|Lung(261;0.0143)		TCCCCGTGTGTGTCATAGTTG	0.592																																					p.C252C		.											.	SGPP2-91	0			c.T756C						.						154.0	139.0	144.0					2																	223423173		2203	4300	6503	SO:0001819	synonymous_variant	130367	exon5			CGTGTGTGTCATA	AF542512	CCDS2453.1	2q36.3	2010-05-26	2010-05-26		ENSG00000163082	ENSG00000163082			19953	protein-coding gene	gene with protein product		612827				12411432	Standard	NM_152386		Approved	SPP2, FLJ39004	uc010zlo.2	Q8IWX5	OTTHUMG00000133156	ENST00000321276.7:c.756T>C	2.37:g.223423173T>C		287	3		383	172	NM_152386	0	0	12	33	21	A3KPB4|Q8N8Q6	Silent	SNP	ENST00000321276.7	37	CCDS2453.1																																																																																			.		0.592	SGPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256856.2		
DOCK10	55619	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	225652093	225652093	+	Missense_Mutation	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:225652093A>G	ENST00000258390.7	-	49	5507	c.5440T>C	c.(5440-5442)Tac>Cac	p.Y1814H	DOCK10_ENST00000409592.3_Missense_Mutation_p.Y1808H	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1814	DHR-2.				regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		ACACACATGTATAGCTGCTCC	0.423																																					p.Y1814H		.											.	DOCK10-92	0			c.T5440C						.						202.0	198.0	199.0					2																	225652093		1988	4173	6161	SO:0001583	missense	55619	exon49			ACATGTATAGCTG	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.5440T>C	2.37:g.225652093A>G	ENSP00000258390:p.Tyr1814His	93	0		115	40	NM_014689	0	0	9	15	6	B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	A	14.21	2.467145	0.43839	.	.	ENSG00000135905	ENST00000409592;ENST00000258390;ENST00000373702	T;T	0.19669	2.13;2.13	5.63	4.41	0.53225	.	0.364265	0.30695	N	0.009074	T	0.09113	0.0225	N	0.03608	-0.345	0.29366	N	0.864319	B;B;B;B	0.18166	0.005;0.026;0.005;0.001	B;B;B;B	0.20384	0.009;0.029;0.007;0.0	T	0.04664	-1.0935	10	0.87932	D	0	.	6.4601	0.21952	0.5993:0.2676:0.0:0.1331	.	1814;635;1808;476	Q96BY6;B4DF07;B3FL70;B4DEY4	DOC10_HUMAN;.;.;.	H	1808;1814;319	ENSP00000386694:Y1808H;ENSP00000258390:Y1814H	ENSP00000258390:Y1814H	Y	-	1	0	DOCK10	225360337	1.000000	0.71417	0.914000	0.36105	0.952000	0.60782	4.236000	0.58675	2.144000	0.66660	0.528000	0.53228	TAC	.		0.423	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1		
SLC16A14	151473	hgsc.bcm.edu;bcgsc.ca	37	2	230911202	230911203	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	GA	GA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:230911202_230911203delGA	ENST00000295190.4	-	4	1097_1098	c.639_640delTC	c.(637-642)tctcctfs	p.P214fs		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	214						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		TTTTTACCAGGAGAGAGGGGCC	0.55																																					p.213_214del		.											.	SLC16A14-96	0			c.639_640del						.																																			SO:0001589	frameshift_variant	151473	exon4			TACCAGGAGAGAG	BN000146	CCDS2473.1	2q37.1	2013-07-18	2013-07-18		ENSG00000163053	ENSG00000163053		"""Solute carriers"""	26417	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 14"""		"""solute carrier family 16 (monocarboxylic acid transporters), member 14"""				Standard	NM_152527		Approved	FLJ30794, MCT14	uc002vqd.2	Q7RTX9	OTTHUMG00000133205	ENST00000295190.4:c.639_640delTC	2.37:g.230911206_230911207delGA	ENSP00000295190:p.Pro214fs	71	1		98	51	NM_152527	0	0	0	0	0	A8KA08|Q53R92|Q96NI7	Frame_Shift_Del	DEL	ENST00000295190.4	37	CCDS2473.1																																																																																			.		0.550	SLC16A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256918.2	NM_152527	
GIGYF2	26058	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	233651868	233651868	+	Missense_Mutation	SNP	A	A	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:233651868A>C	ENST00000409547.1	+	11	852	c.541A>C	c.(541-543)Aat>Cat	p.N181H	GIGYF2_ENST00000409480.1_Missense_Mutation_p.N203H|GIGYF2_ENST00000409196.3_Missense_Mutation_p.N181H|GIGYF2_ENST00000373563.4_Missense_Mutation_p.N181H|GIGYF2_ENST00000452341.2_Missense_Mutation_p.N12H|GIGYF2_ENST00000409451.3_Missense_Mutation_p.N203H|GIGYF2_ENST00000373566.3_Missense_Mutation_p.N203H	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	181	Arg-rich.				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)		AGGGAGACCAAATTTTGAGGA	0.388																																					p.N203H		.											.	GIGYF2-28	0			c.A607C						.						70.0	73.0	72.0					2																	233651868		2203	4300	6503	SO:0001583	missense	26058	exon11			AGACCAAATTTTG	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.541A>C	2.37:g.233651868A>C	ENSP00000386537:p.Asn181His	86	0		64	31	NM_001103147	0	0	0	0	0	A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Missense_Mutation	SNP	ENST00000409547.1	37	CCDS33401.1	.	.	.	.	.	.	.	.	.	.	A	18.25	3.582360	0.65992	.	.	ENSG00000204120	ENST00000373566;ENST00000414511;ENST00000373563;ENST00000409480;ENST00000409547;ENST00000535418;ENST00000423659;ENST00000409196;ENST00000409451;ENST00000440945;ENST00000445650;ENST00000452341;ENST00000421778	T;T;T;T;T;T;T;T;T;T	0.77620	-0.74;-0.83;-0.74;-0.83;-0.82;-0.8;-0.74;-0.93;-1.11;-0.63	5.63	5.63	0.86233	.	0.099725	0.64402	D	0.000002	D	0.84160	0.5411	L	0.44542	1.39	0.35580	D	0.806161	D;D;D;D	0.69078	0.997;0.997;0.976;0.994	D;D;P;D	0.78314	0.991;0.987;0.656;0.962	D	0.88545	0.3112	10	0.66056	D	0.02	-15.2444	16.1263	0.81397	1.0:0.0:0.0:0.0	.	12;203;181;181	E9PC50;A6H8W4;Q6Y7W6;E9PBB0	.;.;PERQ2_HUMAN;.	H	203;130;181;203;181;181;130;181;203;181;12;12;8	ENSP00000362667:N203H;ENSP00000362664:N181H;ENSP00000386765:N203H;ENSP00000386537:N181H;ENSP00000404195:N130H;ENSP00000387070:N181H;ENSP00000387170:N203H;ENSP00000410297:N181H;ENSP00000392218:N12H;ENSP00000411505:N12H	ENSP00000362664:N181H	N	+	1	0	GIGYF2	233360112	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.488000	0.66869	2.257000	0.74773	0.533000	0.62120	AAT	.		0.388	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146	
INPP5D	3635	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	234091058	234091058	+	Missense_Mutation	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:234091058A>G	ENST00000359570.5	+	21	2038	c.2038A>G	c.(2038-2040)Agt>Ggt	p.S680G	INPP5D_ENST00000538935.1_3'UTR|INPP5D_ENST00000455936.2_Missense_Mutation_p.S444G|INPP5D_ENST00000450745.1_Missense_Mutation_p.S444G			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	692					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		CCCTGCAGGCAGTACCAGCGA	0.512																																					.	NSCLC(82;1215 1426 16163 20348 41018)	.											.	INPP5D-652	0			.						.						149.0	146.0	147.0					2																	234091058		2058	4210	6268	SO:0001583	missense	3635	.			GCAGGCAGTACCA	U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"""SH2 domain containing"""	6079	protein-coding gene	gene with protein product		601582	"""inositol polyphosphate-5-phosphatase, 145kD"""			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.2038A>G	2.37:g.234091058A>G	ENSP00000352575:p.Ser680Gly	182	0		254	117	.	0	0	0	0	0	O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Missense_Mutation	SNP	ENST00000359570.5	37		.	.	.	.	.	.	.	.	.	.	A	10.77	1.442646	0.25987	.	.	ENSG00000168918	ENST00000359570;ENST00000450745;ENST00000455936;ENST00000435188;ENST00000415617;ENST00000445964	D;D;D;D;D;D	0.95482	-3.72;-3.72;-3.72;-3.72;-3.72;-3.72	5.36	1.19	0.21007	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.774326	0.13020	N	0.420182	D	0.90909	0.7143	.	.	.	0.34679	D	0.724466	B;B	0.24317	0.082;0.101	B;B	0.31442	0.054;0.13	D	0.84339	0.0526	9	0.15499	T	0.54	.	11.4315	0.50043	0.3698:0.0:0.0:0.6302	.	691;692	Q92835-2;Q92835	.;SHIP1_HUMAN	G	680;444;444;313;313;313	ENSP00000352575:S680G;ENSP00000407916:S444G;ENSP00000404610:S444G;ENSP00000400151:S313G;ENSP00000397421:S313G;ENSP00000405338:S313G	ENSP00000352575:S680G	S	+	1	0	INPP5D	233755797	1.000000	0.71417	0.997000	0.53966	0.070000	0.16714	5.038000	0.64177	0.273000	0.22049	0.482000	0.46254	AGT	.		0.512	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001017915	
TRPM8	79054	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	234854560	234854560	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:234854560G>A	ENST00000324695.4	+	7	800	c.760G>A	c.(760-762)Gac>Aac	p.D254N	TRPM8_ENST00000433712.2_5'UTR|AC005538.5_ENST00000455991.1_RNA	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	254					calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	GTATATCCTGGACAACAACCA	0.433																																					p.D254N		.											.	TRPM8-94	0			c.G760A						.						141.0	126.0	131.0					2																	234854560		2203	4300	6503	SO:0001583	missense	79054	exon7			ATCCTGGACAACA	AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17961	protein-coding gene	gene with protein product		606678				16382100	Standard	NM_024080		Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	ENST00000324695.4:c.760G>A	2.37:g.234854560G>A	ENSP00000323926:p.Asp254Asn	127	1		137	61	NM_024080	0	0	0	0	0	A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Missense_Mutation	SNP	ENST00000324695.4	37	CCDS33407.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.689903	0.88735	.	.	ENSG00000144481	ENST00000324695	T	0.05258	3.47	5.5	5.5	0.81552	.	0.000000	0.64402	D	0.000001	T	0.08492	0.0211	L	0.42245	1.32	0.80722	D	1	P	0.46395	0.877	B	0.43360	0.417	T	0.37888	-0.9686	10	0.10377	T	0.69	-35.1857	17.974	0.89121	0.0:0.0:1.0:0.0	.	254	Q7Z2W7	TRPM8_HUMAN	N	254	ENSP00000323926:D254N	ENSP00000323926:D254N	D	+	1	0	TRPM8	234519299	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	7.765000	0.85310	2.599000	0.87857	0.655000	0.94253	GAC	.		0.433	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131005.4	NM_024080	
LRRFIP1	9208	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	2	238672429	238672431	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	TGG	TGG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:238672429_238672431delTGG	ENST00000392000.4	+	11	2190_2192	c.2073_2075delTGG	c.(2071-2076)gctggt>gct	p.G693del	LRRFIP1_ENST00000289175.6_In_Frame_Del_p.G637del|LRRFIP1_ENST00000244815.5_In_Frame_Del_p.G669del|LRRFIP1_ENST00000308482.9_Intron	NM_001137552.1	NP_001131024.1	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	693					innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|protein homodimerization activity (GO:0042803)			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		GCCCGAGGGCTGGTGGTGAAGAA	0.463																																					p.691_692del		.											.	LRRFIP1-153	0			c.2073_2075del						.																																			SO:0001651	inframe_deletion	9208	exon11			GAGGGCTGGTGGT	AJ223075	CCDS2521.1, CCDS46551.1, CCDS46552.1, CCDS46553.1	2q37.3	2010-09-30			ENSG00000124831	ENSG00000124831			6702	protein-coding gene	gene with protein product	"""GC-binding factor 2"""	603256				9705290, 9525888, 16199883	Standard	NM_004735		Approved	FLAP-1, FLIIAP1, TRIP, GCF-2, HUFI-1	uc002vxe.3	Q32MZ4	OTTHUMG00000133339	ENST00000392000.4:c.2073_2075delTGG	2.37:g.238672432_238672434delTGG	ENSP00000375857:p.Gly693del	203	0		230	78	NM_001137552	0	0	0	0	0	E9PGZ2|O75766|O75799|Q32MZ5|Q53T49|Q6PKG2|Q9Y607	In_Frame_Del	DEL	ENST00000392000.4	37	CCDS46552.1																																																																																			.		0.463	LRRFIP1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317198.1	NM_004735	
SCLY	51540	broad.mit.edu;bcgsc.ca	37	2	238990850	238990850	+	Splice_Site	SNP	G	G	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:238990850G>T	ENST00000555827.1	+	6	841	c.777G>T	c.(775-777)aaG>aaT	p.K259N	SCLY_ENST00000422984.2_Splice_Site_p.K165N|SCLY_ENST00000373332.3_Splice_Site_p.K177N|SCLY_ENST00000254663.6_Splice_Site_p.K267N|SCLY_ENST00000429612.2_Intron|SCLY_ENST00000409736.2_Splice_Site_p.K259N			Q96I15	SCLY_HUMAN	selenocysteine lyase	259					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)		TGGGGCACAAGGTAAGTCTGC	0.622																																					p.K267N	Melanoma(24;424 891 11947 32582 36034)|Ovarian(46;648 1065 26199 32764 45893)	.											.	SCLY-92	0			c.G801T						.						50.0	48.0	49.0					2																	238990850		2202	4299	6501	SO:0001630	splice_region_variant	51540	exon6			GCACAAGGTAAGT	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.777+1G>T	2.37:g.238990850G>T		188	2		275	109	NM_016510	0	0	0	0	0	B9A068|J3KN06|Q53SN1|Q53SN8|Q7L670|Q9NVT7|Q9NZR7	Missense_Mutation	SNP	ENST00000555827.1	37		.|.|.|.	.|.|.|.	.|.|.|.	.|.|.|.	.|.|.|.	.|.|.|.	.|.|.|.	.|.|.|.	.|.|.|.	.|.|.|.	G|G|G|G	20.4|20.4|20.4|20.4	3.991016|3.991016|3.991016|3.991016	0.74703|0.74703|0.74703|0.74703	.|.|.|.	.|.|.|.	ENSG00000132330|ENSG00000132330|ENSG00000132330|ENSG00000132330	ENST00000440143|ENST00000254663;ENST00000555827;ENST00000373332;ENST00000409736;ENST00000422984;ENST00000450965|ENST00000431487|ENST00000437134	.|T;T;D;D;T;D|.|.	.|0.98493|.|.	.|-0.84;-0.84;-4.96;-4.96;-0.84;-4.96|.|.	5.48|5.48|5.48|5.48	5.48|5.48|5.48|5.48	0.80851|0.80851|0.80851|0.80851	.|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|D	.|0.90820|0.90820|0.90820	.|0.7117|0.7117|0.7117	H|H|H|H	0.98577|0.98577|0.98577|0.98577	4.27|4.27|4.27|4.27	0.80722|0.80722|0.80722|0.80722	D|D|D|D	1|1|1|1	.|D;D;D|.|.	.|0.89917|.|.	.|1.0;1.0;1.0|.|.	.|D;D;D|.|.	.|0.97110|.|.	.|1.0;1.0;1.0|.|.	.|D|D|D	.|0.94201|0.94201|0.94201	.|0.7450|0.7450|0.7450	.|10|5|5	.|0.87932|.|.	.|D|.|.	.|0|.|.	-24.3551|-24.3551|-24.3551|-24.3551	18.1424|18.1424|18.1424|18.1424	0.89644|0.89644|0.89644|0.89644	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.|.	.|165;259;259|.|.	.|E7ESG3;Q96I15;Q96I15-2|.|.	.|.;SCLY_HUMAN;.|.|.	X|N|M|F	37|267;259;177;259;165;89|105|103	.|ENSP00000254663:K267N;ENSP00000450613:K259N;ENSP00000362429:K177N;ENSP00000387162:K259N;ENSP00000416865:K165N;ENSP00000414053:K89N|.|.	.|ENSP00000254663:K259N|.|.	G|K|R|V	+|+|+|+	1|3|2|1	0|2|0|0	SCLY|SCLY|SCLY|SCLY	238655589|238655589|238655589|238655589	1.000000|1.000000|1.000000|1.000000	0.71417|0.71417|0.71417|0.71417	1.000000|1.000000|1.000000|1.000000	0.80357|0.80357|0.80357|0.80357	0.070000|0.070000|0.070000|0.070000	0.16714|0.16714|0.16714|0.16714	9.713000|9.713000|9.713000|9.713000	0.98740|0.98740|0.98740|0.98740	2.576000|2.576000|2.576000|2.576000	0.86940|0.86940|0.86940|0.86940	0.655000|0.655000|0.655000|0.655000	0.94253|0.94253|0.94253|0.94253	GGA|AAG|AGG|GTT	.		0.622	SCLY-204	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_016510	Missense_Mutation
TRAF3IP1	26146	broad.mit.edu	37	2	239237830	239237830	+	Frame_Shift_Del	DEL	G	G	-	rs150462938		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:239237830delG	ENST00000373327.4	+	5	984	c.762delG	c.(760-762)gagfs	p.E254fs	TRAF3IP1_ENST00000391994.2_Frame_Shift_Del_p.E254fs|TRAF3IP1_ENST00000391993.3_Frame_Shift_Del_p.E254fs	NM_015650.3	NP_056465.2	Q8TDR0	MIPT3_HUMAN	TNF receptor-associated factor 3 interacting protein 1	254	Abolishes microtubules-binding when missing.|Arg-rich.|DISC1-interaction domain.				cilium assembly (GO:0042384)|embryonic camera-type eye development (GO:0031076)|embryonic digit morphogenesis (GO:0042733)|embryonic heart tube development (GO:0035050)|intraciliary transport (GO:0042073)|negative regulation of defense response to virus (GO:0050687)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube patterning (GO:0021532)|post-anal tail morphogenesis (GO:0036342)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2)	23		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)		gaaagagtgagggggggaaag	0.597																																					p.E254fs		.											.	TRAF3IP1-228	0			c.762delG						.						76.0	83.0	81.0					2																	239237830		2200	4299	6499	SO:0001589	frameshift_variant	26146	exon5			GAGTGAGGGGGGG	AF230877	CCDS33415.1, CCDS46557.1	2q37.3	2014-02-21			ENSG00000204104	ENSG00000204104		"""Intraflagellar transport homologs"""	17861	protein-coding gene	gene with protein product	"""microtubule interacting protein that associates with TRAF3"""	607380				10791955, 12935900	Standard	NM_015650		Approved	MIP-T3, DKFZP434F124, MIPT3, IFT54	uc002vye.3	Q8TDR0	OTTHUMG00000152872	ENST00000373327.4:c.762delG	2.37:g.239237830delG	ENSP00000362424:p.Glu254fs	238	0		308	8	NM_015650	0	0	0	0	0	Q6PCT1|Q7L8N9|Q9NRD6|Q9Y4Q1	Frame_Shift_Del	DEL	ENST00000373327.4	37	CCDS33415.1																																																																																			.		0.597	TRAF3IP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328312.1	NM_015650	
HDAC4	9759	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	240085574	240085574	+	Missense_Mutation	SNP	A	A	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:240085574A>T	ENST00000345617.3	-	6	1327	c.536T>A	c.(535-537)gTc>gAc	p.V179D	HDAC4_ENST00000541256.1_Missense_Mutation_p.V148D|AC017028.1_ENST00000396489.1_5'Flank	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	179	Interaction with MEF2A.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		TTTATTGAGGACAAATTCTTG	0.562																																					p.V179D		.											.	HDAC4-291	0			c.T536A						.						136.0	139.0	138.0					2																	240085574		2203	4300	6503	SO:0001583	missense	9759	exon6			TTGAGGACAAATT	AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"""brachydactyly-mental retardation syndrome"""	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.536T>A	2.37:g.240085574A>T	ENSP00000264606:p.Val179Asp	126	0		135	50	NM_006037	0	0	4	6	2	Q9UND6	Missense_Mutation	SNP	ENST00000345617.3	37	CCDS2529.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.550138	0.86127	.	.	ENSG00000068024	ENST00000345617;ENST00000456922;ENST00000541256;ENST00000393621;ENST00000454542	T;T;T	0.52526	4.36;4.36;0.66	4.31	4.31	0.51392	.	0.000000	0.64402	D	0.000001	T	0.64327	0.2588	M	0.64997	1.995	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;0.999;0.999;0.999	D;D;D;D;D;D	0.87578	0.994;0.992;0.998;0.997;0.949;0.949	T	0.65203	-0.6225	9	.	.	.	.	13.7966	0.63175	1.0:0.0:0.0:0.0	.	174;62;148;148;147;179	B7Z8G5;F5H0Q9;F5H5W4;B7Z8I2;Q53SM2;P56524	.;.;.;.;.;HDAC4_HUMAN	D	179;62;148;62;148	ENSP00000264606:V179D;ENSP00000443057:V148D;ENSP00000405226:V148D	.	V	-	2	0	HDAC4	239750511	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.452000	0.90346	1.727000	0.51537	0.533000	0.62120	GTC	.		0.562	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257174.2	NM_006037	
ANKMY1	51281	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	241463346	241463346	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:241463346G>A	ENST00000272972.3	-	7	1735	c.1521C>T	c.(1519-1521)agC>agT	p.S507S	ANKMY1_ENST00000361678.4_Silent_p.S366S|ANKMY1_ENST00000373318.2_Silent_p.S366S|ANKMY1_ENST00000403283.1_Silent_p.S445S|ANKMY1_ENST00000405523.3_Silent_p.S366S|ANKMY1_ENST00000391987.1_Silent_p.S507S|ANKMY1_ENST00000401804.1_Silent_p.S596S|ANKMY1_ENST00000405002.1_Silent_p.S277S|ANKMY1_ENST00000406958.1_Silent_p.S268S|ANKMY1_ENST00000373320.4_Silent_p.S277S|ANKMY1_ENST00000462004.1_5'Flank|ANKMY1_ENST00000536462.1_Silent_p.S319S	NM_016552.2	NP_057636.2	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	507							metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		CTTTGTCGAAGCTGCTGGTGC	0.622																																					p.S507S		.											.	ANKMY1-90	0			c.C1521T						.						64.0	61.0	62.0					2																	241463346		2203	4300	6503	SO:0001819	synonymous_variant	51281	exon7			GTCGAAGCTGCTG	AB034636	CCDS2535.1, CCDS2536.1, CCDS63184.1, CCDS63185.1, CCDS74681.1	2q37.3	2013-01-10			ENSG00000144504	ENSG00000144504		"""Zinc fingers, MYND-type"", ""Ankyrin repeat domain containing"""	20987	protein-coding gene	gene with protein product							Standard	XM_005247020		Approved	FLJ20499, ZMYND13	uc002vyz.1	Q9P2S6	OTTHUMG00000133355	ENST00000272972.3:c.1521C>T	2.37:g.241463346G>A		142	0		170	78	NM_016552	0	0	3	9	6	B2RB78|Q4ZFV3|Q8IYX5|Q8NDK5|Q9H0V8|Q9NX10	Silent	SNP	ENST00000272972.3	37	CCDS2536.1																																																																																			.		0.622	ANKMY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257187.2	NM_017844	
RNPEPL1	57140	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	241516387	241516387	+	Missense_Mutation	SNP	C	C	T	rs193086300		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:241516387C>T	ENST00000270357.4	+	10	1764	c.1171C>T	c.(1171-1173)Cgg>Tgg	p.R391W	RNPEPL1_ENST00000464550.1_3'UTR	NM_018226.4	NP_060696.4	Q9HAU8	RNPL1_HUMAN	arginyl aminopeptidase (aminopeptidase B)-like 1	391					leukotriene biosynthetic process (GO:0019370)		aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R391W(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	13		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)		CCACAGGGTGCGGCGCTTCCT	0.647													C|||	1	0.000199681	0.0	0.0	5008	,	,		17545	0.0		0.001	False		,,,				2504	0.0				p.R622W		.											.	RNPEPL1-154	1	Substitution - Missense(1)	prostate(1)	c.C1864T						.						72.0	68.0	70.0					2																	241516387		2203	4300	6503	SO:0001583	missense	57140	exon10			AGGGTGCGGCGCT			2q37.3	2012-03-06			ENSG00000142327	ENSG00000142327			10079	protein-coding gene	gene with protein product		605287				19508204	Standard	NM_018226		Approved		uc002vzi.4	Q9HAU8	OTTHUMG00000133357	ENST00000270357.4:c.1171C>T	2.37:g.241516387C>T	ENSP00000270357:p.Arg391Trp	117	0		195	76	NM_018226	0	0	58	113	55	Q5XKC3|Q6NX56|Q96AC9|Q9H033|Q9NVD0	Missense_Mutation	SNP	ENST00000270357.4	37		1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	26.4	4.734145	0.89482	.	.	ENSG00000142327	ENST00000270357;ENST00000437406	T;T	0.46063	0.88;0.88	4.73	4.73	0.59995	Peptidase M1, leukotriene A4 hydrolase, aminopeptidase C-terminal (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.63307	0.2500	M	0.71581	2.175	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	T	0.66052	-0.6019	10	0.52906	T	0.07	-11.76	15.1567	0.72749	0.0:1.0:0.0:0.0	.	297;391	A4FTX9;Q9HAU8	.;RNPL1_HUMAN	W	391;144	ENSP00000270357:R391W;ENSP00000403319:R144W	ENSP00000270357:R391W	R	+	1	2	RNPEPL1	241165060	0.998000	0.40836	0.985000	0.45067	0.838000	0.47535	3.322000	0.52007	2.167000	0.68274	0.591000	0.81541	CGG	C|0.999;T|0.000		0.647	RNPEPL1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000257190.4	NM_018226	
GPR35	2859	broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	241569558	241569558	+	Silent	SNP	G	G	A	rs201529824		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:241569558G>A	ENST00000319838.5	+	6	1131	c.189G>A	c.(187-189)gcG>gcA	p.A63A	GPR35_ENST00000438013.2_Silent_p.A94A|GPR35_ENST00000430267.1_Silent_p.A63A|GPR35_ENST00000403859.1_Silent_p.A63A|GPR35_ENST00000407714.1_Silent_p.A63A	NM_001195381.1	NP_001182310.1	Q9HC97	GPR35_HUMAN	G protein-coupled receptor 35	63					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		CCAACCTGGCGGTGGCCGACC	0.647													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17909	0.0		0.0	False		,,,				2504	0.0				p.A94A		.											.	GPR35-93	0			c.G282A						.						113.0	95.0	101.0					2																	241569558		2203	4300	6503	SO:0001819	synonymous_variant	2859	exon6			CCTGGCGGTGGCC		CCDS2541.1, CCDS56174.1	2q37.3	2012-08-21			ENSG00000178623	ENSG00000178623		"""GPCR / Class A : Orphans"""	4492	protein-coding gene	gene with protein product		602646				9479505	Standard	NM_005301		Approved		uc021vze.1	Q9HC97	OTTHUMG00000133356	ENST00000319838.5:c.189G>A	2.37:g.241569558G>A		58	1		97	49	NM_001195382	0	0	0	0	0	J3KR30|O43495|Q17R58|Q4VBN5|Q4ZFV2|Q6FHI8|Q86UH4	Silent	SNP	ENST00000319838.5	37	CCDS2541.1																																																																																			G|0.999;A|0.000		0.647	GPR35-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000325631.1	NM_001195382	
KIF1A	547	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	241737134	241737134	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:241737134G>A	ENST00000320389.7	-	2	194	c.36C>T	c.(34-36)gtC>gtT	p.V12V	KIF1A_ENST00000498729.2_Silent_p.V12V	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	12	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		TGAAGGGGCGGACCCGCACCG	0.617																																					p.V12V		.											.	KIF1A-91	0			c.C36T						.						37.0	43.0	41.0					2																	241737134		2012	4153	6165	SO:0001819	synonymous_variant	547	exon2			GGGGCGGACCCGC	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.36C>T	2.37:g.241737134G>A		48	0		69	30	NM_001244008	0	0	0	0	0	B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Silent	SNP	ENST00000320389.7	37	CCDS46561.1																																																																																			.		0.617	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483	
THAP4	51078	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	242573029	242573029	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:242573029G>A	ENST00000407315.1	-	2	974	c.543C>T	c.(541-543)acC>acT	p.T181T		NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	181							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		CTGCCACCATGGTGGCCAGTC	0.632																																					p.T181T		.											.	.	0			c.C543T						.						59.0	61.0	61.0					2																	242573029		2203	4296	6499	SO:0001819	synonymous_variant	51078	exon2			CACCATGGTGGCC	AF258556	CCDS2551.1, CCDS54440.1	2q37.3	2013-01-25			ENSG00000176946	ENSG00000176946		"""THAP (C2CH-type zinc finger) domain containing"""	23187	protein-coding gene	gene with protein product		612533				12575992, 10810093	Standard	NM_015963		Approved	CGI-36	uc002wbt.3	Q8WY91	OTTHUMG00000133410	ENST00000407315.1:c.543C>T	2.37:g.242573029G>A		76	0		87	37	NM_015963	0	0	52	87	35	Q53NU7|Q6GRN0|Q6IPJ3|Q9NW26|Q9Y325	Silent	SNP	ENST00000407315.1	37	CCDS2551.1																																																																																			.		0.632	THAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257267.3	NM_015963	
D2HGDH	728294	hgsc.bcm.edu	37	2	242674750	242674750	+	Silent	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:242674750C>T	ENST00000321264.4	+	2	320	c.111C>T	c.(109-111)tgC>tgT	p.C37C	D2HGDH_ENST00000342518.6_Silent_p.C37C|AC114730.8_ENST00000400768.2_RNA|D2HGDH_ENST00000537090.1_Silent_p.C37C|D2HGDH_ENST00000403782.1_Intron	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase	37					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular protein metabolic process (GO:0044267)|response to cobalt ion (GO:0032025)|response to manganese ion (GO:0010042)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-2-hydroxyglutarate dehydrogenase activity (GO:0051990)|flavin adenine dinucleotide binding (GO:0050660)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		GAGGCTGCTGCTCCGCCCCGG	0.751																																					p.C37C		.											.	.	0			c.C111T						.						2.0	4.0	3.0					2																	242674750		1743	3637	5380	SO:0001819	synonymous_variant	728294	exon2			CTGCTGCTCCGCC	AK091725	CCDS33426.1, CCDS74684.1	2p25.3	2010-05-11			ENSG00000180902	ENSG00000180902	1.1.99.-		28358	protein-coding gene	gene with protein product		609186				15070399, 15609246	Standard	NM_152783		Approved	MGC25181, D2HGD, FLJ42195	uc002wce.1	Q8N465	OTTHUMG00000151474	ENST00000321264.4:c.111C>T	2.37:g.242674750C>T		5	0		52	28	NM_152783	0	0	2	2	0	B4E3L6|E7ENP2|Q6IQ24|Q8N5Q8	Silent	SNP	ENST00000321264.4	37	CCDS33426.1																																																																																			.		0.751	D2HGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322794.2	NM_152783	
ANGPT4	51378	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	896570	896570	+	Missense_Mutation	SNP	G	G	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr20:896570G>T	ENST00000381922.3	-	1	390	c.288C>A	c.(286-288)aaC>aaA	p.N96K	ANGPT4_ENST00000546022.1_Missense_Mutation_p.N96K	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	96					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to hypoxia (GO:0071456)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						ACTGCGTGTTGTTCTGCAGTG	0.602																																					p.N96K	Pancreas(181;481 2077 3259 31286 49856)	.											.	ANGPT4-92	0			c.C288A						.						125.0	100.0	109.0					20																	896570		2203	4300	6503	SO:0001583	missense	51378	exon1			CGTGTTGTTCTGC	AF074332	CCDS13009.1	20p13	2013-02-06			ENSG00000101280	ENSG00000101280		"""Fibrinogen C domain containing"""	487	protein-coding gene	gene with protein product		603705				10051567, 10218486	Standard	NM_015985		Approved		uc002wei.3	Q9Y264	OTTHUMG00000031652	ENST00000381922.3:c.288C>A	20.37:g.896570G>T	ENSP00000371347:p.Asn96Lys	117	1		85	71	NM_015985	0	0	0	0	0	B4E3J9|Q5TFF4|Q9H4Z4	Missense_Mutation	SNP	ENST00000381922.3	37	CCDS13009.1	.	.	.	.	.	.	.	.	.	.	G	12.85	2.062239	0.36373	.	.	ENSG00000101280	ENST00000381922;ENST00000546022	T;T	0.11821	2.74;2.74	4.52	2.28	0.28536	.	0.570278	0.16884	N	0.195587	T	0.32010	0.0815	M	0.75615	2.305	0.32127	N	0.587314	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.33954	-0.9848	10	0.72032	D	0.01	.	6.3621	0.21435	0.2598:0.0:0.7402:0.0	.	96;96	B4E3J9;Q9Y264	.;ANGP4_HUMAN	K	96	ENSP00000371347:N96K;ENSP00000439605:N96K	ENSP00000371347:N96K	N	-	3	2	ANGPT4	844570	1.000000	0.71417	1.000000	0.80357	0.151000	0.21798	2.186000	0.42593	0.381000	0.24851	0.484000	0.47621	AAC	.		0.602	ANGPT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077493.1	NM_015985	
FASTKD5	60493	hgsc.bcm.edu;bcgsc.ca	37	20	3128001	3128001	+	Frame_Shift_Del	DEL	C	C	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr20:3128001delC	ENST00000380266.3	-	2	2037	c.1716delG	c.(1714-1716)gggfs	p.G572fs	UBOX5_ENST00000217173.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000348031.2_Intron	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	572					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						CGTACTGGGGCCCCCCCAGCA	0.438																																					p.G572fs		.											.	FASTKD5-90	0			c.1716delG						.						63.0	72.0	69.0					20																	3128001		2203	4300	6503	SO:0001589	frameshift_variant	60493	exon2			CTGGGGCCCCCCC	BC007413	CCDS13048.1	20p13	2006-07-07			ENSG00000215251	ENSG00000215251			25790	protein-coding gene	gene with protein product		614272				11347906	Standard	NM_021826		Approved	FLJ13149	uc002whz.4	Q7L8L6	OTTHUMG00000031727	ENST00000380266.3:c.1716delG	20.37:g.3128001delC	ENSP00000369618:p.Gly572fs	79	1		61	40	NM_021826	0	0	0	0	0	Q96JN3|Q9H5D1|Q9H8Y3	Frame_Shift_Del	DEL	ENST00000380266.3	37	CCDS13048.1																																																																																			.		0.438	FASTKD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077701.2	NM_021826	
ATRN	8455	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	3546042	3546042	+	Missense_Mutation	SNP	G	G	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr20:3546042G>T	ENST00000262919.5	+	11	1902	c.1834G>T	c.(1834-1836)Gtc>Ttc	p.V612F	ATRN_ENST00000446916.2_Missense_Mutation_p.V612F	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	612					cerebellum development (GO:0021549)|inflammatory response (GO:0006954)|myelination (GO:0042552)|pigmentation (GO:0043473)|regulation of multicellular organism growth (GO:0040014)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						CCACCATGATGTCAACAGATT	0.418																																					p.V612F		.											.	ATRN-154	0			c.G1834T						.						118.0	110.0	113.0					20																	3546042		2203	4300	6503	SO:0001583	missense	8455	exon11			CATGATGTCAACA	AF034957	CCDS13053.1, CCDS13054.1	20p13	2008-07-02			ENSG00000088812	ENSG00000088812			885	protein-coding gene	gene with protein product	"""mahogany protein"""	603130				9736737, 8596018	Standard	NM_139321		Approved	DPPT-L, MGCA	uc002wim.2	O75882	OTTHUMG00000031746	ENST00000262919.5:c.1834G>T	20.37:g.3546042G>T	ENSP00000262919:p.Val612Phe	80	0		44	28	NM_139321	0	0	2	26	24	A8KAE5|O60295|O95414|Q3MIT3|Q5TDA2|Q5TDA4|Q5VYW3|Q9NTQ3|Q9NTQ4|Q9NU01|Q9NZ57|Q9NZ58|Q9UC75|Q9UDF5	Missense_Mutation	SNP	ENST00000262919.5	37	CCDS13053.1	.	.	.	.	.	.	.	.	.	.	G	19.65	3.867515	0.72065	.	.	ENSG00000088812	ENST00000262919;ENST00000446916;ENST00000340500	T;T	0.06218	3.33;3.4	5.25	4.28	0.50868	Kelch-type beta propeller (1);	0.255877	0.39083	N	0.001465	T	0.10252	0.0251	L	0.52759	1.655	0.53688	D	0.999972	P;P	0.49783	0.585;0.928	B;P	0.51135	0.365;0.66	T	0.19128	-1.0315	10	0.10636	T	0.68	-16.9424	12.0765	0.53647	0.1392:0.0:0.8608:0.0	.	612;612	O75882;O75882-2	ATRN_HUMAN;.	F	612;612;538	ENSP00000262919:V612F;ENSP00000416587:V612F	ENSP00000262919:V612F	V	+	1	0	ATRN	3494042	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	3.830000	0.55768	2.613000	0.88420	0.591000	0.81541	GTC	.		0.418	ATRN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077740.2	NM_139321	
CENPB	1059	ucsc.edu;bcgsc.ca;mdanderson.org	37	20	3765726	3765726	+	Nonsense_Mutation	SNP	C	C	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr20:3765726C>A	ENST00000379751.4	-	1	1611	c.1405G>T	c.(1405-1407)Gag>Tag	p.E469*	CDC25B_ENST00000344256.6_5'Flank|CDC25B_ENST00000379598.5_5'Flank	NM_001810.5	NP_001801.1	P07199	CENPB_HUMAN	centromere protein B, 80kDa	469					regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|nucleus (GO:0005634)	centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|satellite DNA binding (GO:0003696)|sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(2)|lung(4)|skin(1)	8						TCCAAGCCCTCCGAGGAGCTC	0.612																																					p.E469X		.											.	CENPB-227	0			c.G1405T						.						200.0	170.0	180.0					20																	3765726		2203	4300	6503	SO:0001587	stop_gained	1059	exon1			AGCCCTCCGAGGA	X05299	CCDS13064.1	20p13	2013-11-05	2002-08-29		ENSG00000125817	ENSG00000125817			1852	protein-coding gene	gene with protein product		117140	"""centromere protein B (80kD)"""			8406460, 11884609	Standard	NM_001810		Approved		uc002wjk.3	P07199	OTTHUMG00000031761	ENST00000379751.4:c.1405G>T	20.37:g.3765726C>A	ENSP00000369075:p.Glu469*	167	4		145	112	NM_001810	0	0	9	90	81	Q96EI4	Nonsense_Mutation	SNP	ENST00000379751.4	37	CCDS13064.1	.	.	.	.	.	.	.	.	.	.	C	37	6.603024	0.97697	.	.	ENSG00000125817	ENST00000379751;ENST00000536335	.	.	.	4.59	4.59	0.56863	.	0.747043	0.11062	U	0.603898	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-10.176	12.8873	0.58051	0.0:1.0:0.0:0.0	.	.	.	.	X	469;8	.	ENSP00000369075:E469X	E	-	1	0	CENPB	3713726	0.994000	0.37717	0.984000	0.44739	0.825000	0.46686	4.134000	0.57990	2.079000	0.62486	0.561000	0.74099	GAG	.		0.612	CENPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077772.2	NM_001810	
SEL1L2	80343	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	13850197	13850197	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr20:13850197C>T	ENST00000284951.5	-	14	1281	c.1207G>A	c.(1207-1209)Gaa>Aaa	p.E403K	SEL1L2_ENST00000378072.5_Missense_Mutation_p.E403K|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	403						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						CACCCTTTTTCCGCAGCTTTC	0.388																																					p.E403K		.											.	SEL1L2-70	0			c.G1207A						.						104.0	97.0	99.0					20																	13850197		1864	4112	5976	SO:0001583	missense	80343	exon14			CTTTTTCCGCAGC	AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251			15897	protein-coding gene	gene with protein product		614289	"""chromosome 20 open reading frame 50"""	C20orf50			Standard	NM_001271539		Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.1207G>A	20.37:g.13850197C>T	ENSP00000284951:p.Glu403Lys	124	0		91	70	NM_001271539	0	0	0	0	0	B4DXX5	Missense_Mutation	SNP	ENST00000284951.5	37		.	.	.	.	.	.	.	.	.	.	C	29.6	5.017226	0.93404	.	.	ENSG00000101251	ENST00000378072;ENST00000284951	T;T	0.54675	0.56;0.56	5.28	5.28	0.74379	Tetratricopeptide-like helical (1);	0.000000	0.56097	D	0.000032	T	0.66479	0.2793	L	0.45744	1.44	0.54753	D	0.99998	P;D	0.76494	0.877;0.999	P;D	0.81914	0.739;0.995	T	0.64896	-0.6299	10	0.45353	T	0.12	-14.0468	16.7744	0.85547	0.0:1.0:0.0:0.0	.	403;403	B4DXX5;Q5TEA6	.;SE1L2_HUMAN	K	403	ENSP00000367312:E403K;ENSP00000284951:E403K	ENSP00000284951:E403K	E	-	1	0	SEL1L2	13798197	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.192000	0.65115	2.638000	0.89438	0.557000	0.71058	GAA	.		0.388	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3	NM_025229	
CD93	22918	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	20	23065518	23065518	+	Frame_Shift_Del	DEL	G	G	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr20:23065518delG	ENST00000246006.4	-	1	1459	c.1312delC	c.(1312-1314)ctcfs	p.L438fs		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	438	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				macrophage activation (GO:0042116)|phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CTGTCGCAGAGGGGGCCCCCC	0.652																																					p.L438fs		.											.	CD93-153	0			c.1312delC						.																																			SO:0001589	frameshift_variant	22918	exon1			CGCAGAGGGGGCC	U94333	CCDS13149.1	20p11.21	2009-01-29	2006-03-28	2006-02-22	ENSG00000125810	ENSG00000125810		"""CD molecules"""	15855	protein-coding gene	gene with protein product		120577	"""matrix-remodelling associated 4"", ""complement component 1, q subcomponent, receptor 1"", ""CD93 antigen"""	MXRA4, C1QR1		9047234, 10648005	Standard	NM_012072		Approved	C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3	uc002wsv.3	Q9NPY3	OTTHUMG00000032058	ENST00000246006.4:c.1312delC	20.37:g.23065518delG	ENSP00000246006:p.Leu438fs	84	0		56	43	NM_012072	0	0	0	0	0	O00274	Frame_Shift_Del	DEL	ENST00000246006.4	37	CCDS13149.1																																																																																			.		0.652	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078312.2	NM_012072	
FAM83C	128876	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	20	33874418	33874418	+	Missense_Mutation	SNP	G	G	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr20:33874418G>T	ENST00000374408.3	-	4	2260	c.2164C>A	c.(2164-2166)Ctg>Atg	p.L722M	EIF6_ENST00000374436.3_5'Flank|FAM83C-AS1_ENST00000429167.1_RNA|EIF6_ENST00000374443.3_5'Flank|EIF6_ENST00000462894.1_5'Flank|EIF6_ENST00000374450.3_5'Flank	NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	722										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CTGTGACCCAGGGTCAGCCGT	0.577																																					p.L722M		.											.	FAM83C-92	0			c.C2164A						.						97.0	89.0	92.0					20																	33874418		2203	4300	6503	SO:0001583	missense	128876	exon4			GACCCAGGGTCAG	AL121753	CCDS13251.1	20q11.22	2011-04-01	2006-03-23	2006-03-23	ENSG00000125998	ENSG00000125998			16121	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 128"""	C20orf128			Standard	NM_178468		Approved	dJ614O4.7	uc021wck.1	Q9BQN1	OTTHUMG00000032332	ENST00000374408.3:c.2164C>A	20.37:g.33874418G>T	ENSP00000363529:p.Leu722Met	172	0		193	21	NM_178468	0	0	0	0	0	Q14D67|Q5JWN6|Q8N276	Missense_Mutation	SNP	ENST00000374408.3	37	CCDS13251.1	.	.	.	.	.	.	.	.	.	.	G	15.45	2.835825	0.50951	.	.	ENSG00000125998	ENST00000374408	T	0.22336	1.96	4.93	-3.29	0.05017	.	0.192687	0.32753	N	0.005683	T	0.36635	0.0974	M	0.67700	2.07	0.21064	N	0.999792	D	0.89917	1.0	D	0.81914	0.995	T	0.20009	-1.0288	10	0.87932	D	0	-4.437	10.7457	0.46179	0.5291:0.0:0.4708:0.0	.	722	Q9BQN1	FA83C_HUMAN	M	722	ENSP00000363529:L722M	ENSP00000363529:L722M	L	-	1	2	FAM83C	33337832	0.951000	0.32395	0.306000	0.25113	0.931000	0.56810	0.620000	0.24403	-0.519000	0.06444	0.462000	0.41574	CTG	.		0.577	FAM83C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078854.3		
GDF5	8200	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	34022048	34022048	+	Missense_Mutation	SNP	C	C	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr20:34022048C>A	ENST00000374372.1	-	4	1668	c.1165G>T	c.(1165-1167)Ggc>Tgc	p.G389C	GDF5OS_ENST00000374375.1_Missense_Mutation_p.P31H|GDF5_ENST00000374369.3_Missense_Mutation_p.G389C			P43026	GDF5_HUMAN	growth differentiation factor 5	389					cell-cell signaling (GO:0007267)|chondrocyte differentiation (GO:0002062)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix organization (GO:0030198)|forelimb morphogenesis (GO:0035136)|growth (GO:0040007)|hindlimb morphogenesis (GO:0035137)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuron differentiation (GO:0045666)|regulation of multicellular organism growth (GO:0040014)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	growth factor activity (GO:0008083)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			GGTCGCTTGCCCTGGCGAGTG	0.592																																					p.G389C		.											.	GDF5-226	0			c.G1165T						.						87.0	87.0	87.0					20																	34022048		2203	4300	6503	SO:0001583	missense	8200	exon2			GCTTGCCCTGGCG	X80915	CCDS13254.1	20q11.2	2008-05-22	2007-04-12		ENSG00000125965	ENSG00000125965			4220	protein-coding gene	gene with protein product	"""cartilage-derived morphogenetic protein-1"""	601146				9288091, 9288098	Standard	NM_000557		Approved	CDMP1, BMP14	uc002xck.1	P43026	OTTHUMG00000032341	ENST00000374372.1:c.1165G>T	20.37:g.34022048C>A	ENSP00000363492:p.Gly389Cys	114	1		146	63	NM_000557	0	0	0	0	0	E1P5Q2|Q96SB1	Missense_Mutation	SNP	ENST00000374372.1	37	CCDS13254.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.41|17.41	3.381654|3.381654	0.61845|0.61845	.|.	.|.	ENSG00000125965|ENSG00000204183	ENST00000374369;ENST00000374372|ENST00000374375	T;T|.	0.81247|.	-1.47;-1.47|.	4.4|4.4	4.4|4.4	0.53042|0.53042	Transforming growth factor-beta, C-terminal (1);|.	0.167110|.	0.40728|.	N|.	0.001040|.	T|T	0.61110|0.61110	0.2321|0.2321	L|L	0.34521|0.34521	1.04|1.04	0.58432|0.58432	D|D	0.999994|0.999994	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.77557|.	0.99;0.99|.	T|T	0.66775|0.66775	-0.5838|-0.5838	10|6	0.87932|0.87932	D|D	0|0	.|.	17.1668|17.1668	0.86818|0.86818	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	389;389|.	F1T0J1;P43026|.	.;GDF5_HUMAN|.	C|H	389|31	ENSP00000363489:G389C;ENSP00000363492:G389C|.	ENSP00000363489:G389C|ENSP00000363495:P31H	G|P	-|+	1|2	0|0	GDF5|GDF5OS	33485462|33485462	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	2.761000|2.761000	0.47589|0.47589	2.266000|2.266000	0.75297|0.75297	0.462000|0.462000	0.41574|0.41574	GGC|CCC	.		0.592	GDF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078875.2		
NDRG3	57446	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	35288763	35288763	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr20:35288763G>A	ENST00000349004.1	-	13	916	c.835C>T	c.(835-837)Cct>Tct	p.P279S	NDRG3_ENST00000540765.1_Missense_Mutation_p.P175S|NDRG3_ENST00000373773.3_Missense_Mutation_p.P184S|NDRG3_ENST00000359675.2_Missense_Mutation_p.P267S|NDRG3_ENST00000373803.2_Missense_Mutation_p.P279S	NM_032013.3	NP_114402.1	Q9UGV2	NDRG3_HUMAN	NDRG family member 3	279					cell differentiation (GO:0030154)|negative regulation of cell growth (GO:0030308)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Myeloproliferative disorder(115;0.00878)				GTATTTATAGGGTTCAGGCGG	0.333																																					p.P279S		.											.	NDRG3-91	0			c.C835T						.						123.0	120.0	121.0					20																	35288763		2203	4300	6503	SO:0001583	missense	57446	exon13			TTATAGGGTTCAG	AL031662	CCDS13284.1, CCDS13285.1	20q11.21-q11.23	2008-07-28			ENSG00000101079	ENSG00000101079			14462	protein-coding gene	gene with protein product		605273				10831399, 17998568	Standard	NM_032013		Approved		uc002xfw.3	Q9UGV2	OTTHUMG00000032398	ENST00000349004.1:c.835C>T	20.37:g.35288763G>A	ENSP00000345292:p.Pro279Ser	51	0		99	24	NM_032013	0	0	94	94	0	A2A2S8|E1P5U7|E1P5U8|Q5TH32|Q96PL8|Q96SM2|Q9BXY7|Q9H3N7|Q9H411|Q9H8J6	Missense_Mutation	SNP	ENST00000349004.1	37	CCDS13285.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.555887	0.86231	.	.	ENSG00000101079	ENST00000349004;ENST00000373803;ENST00000359675;ENST00000373773;ENST00000540765	T;T;T;T;T	0.18174	2.23;2.23;2.23;2.23;2.23	5.12	5.12	0.69794	.	0.105466	0.64402	D	0.000003	T	0.49133	0.1539	M	0.88979	2.995	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.99;0.999;0.998	T	0.56141	-0.8028	10	0.62326	D	0.03	.	16.0977	0.81139	0.0:0.0:1.0:0.0	.	184;267;279	F8WBF9;Q9UGV2-2;Q9UGV2	.;.;NDRG3_HUMAN	S	279;279;267;184;175	ENSP00000345292:P279S;ENSP00000362909:P279S;ENSP00000352703:P267S;ENSP00000362878:P184S;ENSP00000442813:P175S	ENSP00000345292:P279S	P	-	1	0	NDRG3	34722177	1.000000	0.71417	0.998000	0.56505	0.877000	0.50540	8.563000	0.90723	2.654000	0.90174	0.655000	0.94253	CCT	.		0.333	NDRG3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079053.2		
NDRG3	57446	hgsc.bcm.edu	37	20	35350111	35350111	+	Missense_Mutation	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr20:35350111T>C	ENST00000349004.1	-	2	109	c.28A>G	c.(28-30)Aca>Gca	p.T10A	NDRG3_ENST00000540765.1_5'UTR|NDRG3_ENST00000373773.3_5'UTR|NDRG3_ENST00000359675.2_Missense_Mutation_p.T10A|NDRG3_ENST00000373803.2_Missense_Mutation_p.T10A	NM_032013.3	NP_114402.1	Q9UGV2	NDRG3_HUMAN	NDRG family member 3	10					cell differentiation (GO:0030154)|negative regulation of cell growth (GO:0030308)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Myeloproliferative disorder(115;0.00878)				TTGATCTCTGTGAGCTGAACA	0.343																																					p.T10A		.											.	NDRG3-91	0			c.A28G						.						96.0	96.0	96.0					20																	35350111		2203	4300	6503	SO:0001583	missense	57446	exon2			TCTCTGTGAGCTG	AL031662	CCDS13284.1, CCDS13285.1	20q11.21-q11.23	2008-07-28			ENSG00000101079	ENSG00000101079			14462	protein-coding gene	gene with protein product		605273				10831399, 17998568	Standard	NM_032013		Approved		uc002xfw.3	Q9UGV2	OTTHUMG00000032398	ENST00000349004.1:c.28A>G	20.37:g.35350111T>C	ENSP00000345292:p.Thr10Ala	72	0		100	6	NM_022477	0	0	30	30	0	A2A2S8|E1P5U7|E1P5U8|Q5TH32|Q96PL8|Q96SM2|Q9BXY7|Q9H3N7|Q9H411|Q9H8J6	Missense_Mutation	SNP	ENST00000349004.1	37	CCDS13285.1	.	.	.	.	.	.	.	.	.	.	T	11.92	1.782879	0.31502	.	.	ENSG00000101079	ENST00000349004;ENST00000373803;ENST00000359675	T;T;T	0.19105	2.17;2.2;2.24	5.21	5.21	0.72293	.	0.099922	0.64402	D	0.000002	T	0.15435	0.0372	L	0.31420	0.93	0.80722	D	1	B;B	0.22909	0.077;0.007	B;B	0.23716	0.048;0.007	T	0.09100	-1.0690	10	0.21014	T	0.42	.	11.3962	0.49843	0.0:0.0:0.0:1.0	.	10;10	Q9UGV2-2;Q9UGV2	.;NDRG3_HUMAN	A	10	ENSP00000345292:T10A;ENSP00000362909:T10A;ENSP00000352703:T10A	ENSP00000345292:T10A	T	-	1	0	NDRG3	34783525	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.995000	0.57001	2.187000	0.69744	0.533000	0.62120	ACA	.		0.343	NDRG3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079053.2		
MROH8	140699	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	35776252	35776252	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr20:35776252C>T	ENST00000400441.3	-	10	1134	c.1135G>A	c.(1135-1137)Gac>Aac	p.D379N	MROH8_ENST00000217333.8_Missense_Mutation_p.D259N|MROH8_ENST00000441008.2_Missense_Mutation_p.D365N			Q9H579	MROH8_HUMAN	maestro heat-like repeat family member 8	264																	TCCTGTGGGTCCCCACAGAGC	0.522																																					.		.											.	.	0			.						.						51.0	55.0	54.0					20																	35776252		1989	4158	6147	SO:0001583	missense	140699	.			GTGGGTCCCCACA	AL136172		20q11.22	2012-12-19	2012-12-19	2012-12-19	ENSG00000101353	ENSG00000101353		"""maestro heat-like repeat containing"""	16125	protein-coding gene	gene with protein product	"""hypothetical protein LOC140699"""		"""chromosome 20 open reading frame 131"", ""chromosome 20 open reading frame 132"""	C20orf131, C20orf132		11780052, 15635413	Standard	NM_152503		Approved	dJ621N11.4, dJ621N11.3	uc010zvu.2	Q9H579	OTTHUMG00000032407	ENST00000400441.3:c.1135G>A	20.37:g.35776252C>T	ENSP00000383291:p.Asp379Asn	53	0		56	22	.	0	0	0	1	1	Q5JYQ6	Missense_Mutation	SNP	ENST00000400441.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.8|21.8	4.208945|4.208945	0.79240|0.79240	.|.	.|.	ENSG00000101353|ENSG00000101353	ENST00000441008;ENST00000400441;ENST00000217333|ENST00000417458;ENST00000421643	T;T;T|T;T	0.45276|0.05258	2.89;2.89;0.9|3.47;3.47	5.68|5.68	4.74|4.74	0.60224|0.60224	.|.	0.225465|.	0.40064|.	N|.	0.001191|.	T|T	0.10937|0.10937	0.0267|0.0267	M|M	0.70275|0.70275	2.135|2.135	0.40855|0.40855	D|D	0.983786|0.983786	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.87578|.	0.996;0.998;0.998;0.998|.	T|T	0.05767|0.05767	-1.0865|-1.0865	10|7	0.72032|0.05525	D|T	0.01|0.97	-12.1772|-12.1772	10.6232|10.6232	0.45491|0.45491	0.0:0.9114:0.0:0.0886|0.0:0.9114:0.0:0.0886	.|.	379;264;389;264|.	E7ETR9;Q9H579;Q6PF12;Q9H579-2|.	.;CT132_HUMAN;.;.|.	N|E	365;379;259|57;380	ENSP00000392144:D365N;ENSP00000383291:D379N;ENSP00000217333:D259N|ENSP00000415930:G57E;ENSP00000413544:G380E	ENSP00000217333:D259N|ENSP00000415930:G57E	D|G	-|-	1|2	0|0	C20orf132|C20orf132	35209666|35209666	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.859000|0.859000	0.49053|0.49053	3.516000|3.516000	0.53436|0.53436	1.418000|1.418000	0.47098|0.47098	0.650000|0.650000	0.86243|0.86243	GAC|GGA	.		0.522	MROH8-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_152503	
RPN2	6185	broad.mit.edu;ucsc.edu;bcgsc.ca	37	20	35833240	35833240	+	Missense_Mutation	SNP	C	C	T	rs145802754		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr20:35833240C>T	ENST00000237530.6	+	6	937	c.626C>T	c.(625-627)gCg>gTg	p.A209V	RPN2_ENST00000373622.5_Missense_Mutation_p.A177V	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II	209					aging (GO:0007568)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|gene expression (GO:0010467)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	autophagic vacuole membrane (GO:0000421)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|oligosaccharyltransferase complex (GO:0008250)|rough endoplasmic reticulum (GO:0005791)	ribosome binding (GO:0043022)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				GAAACAACAGCGTTATTTGTG	0.468																																					p.A209V		.											.	RPN2-93	0			c.C626T						.	C	VAL/ALA,VAL/ALA	0,4406		0,0,2203	123.0	115.0	118.0		530,626	5.4	1.0	20	dbSNP_134	118	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	RPN2	NM_001135771.1,NM_002951.3	64,64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	177/616,209/632	35833240	1,13005	2203	4300	6503	SO:0001583	missense	6185	exon6			CAACAGCGTTATT	Y00282	CCDS13291.1, CCDS46599.1	20q12-q13.1	2013-03-06			ENSG00000118705	ENSG00000118705			10382	protein-coding gene	gene with protein product	"""oligosaccharyltransferase complex subunit (non-catalytic)"""	180490					Standard	NM_002951		Approved	SWP1, RPNII, RIBIIR, RPN-II	uc002xgp.3	P04844	OTTHUMG00000032409	ENST00000237530.6:c.626C>T	20.37:g.35833240C>T	ENSP00000237530:p.Ala209Val	167	1		205	87	NM_002951	0	1	256	473	216	Q5JYR6|Q6IBA5|Q96E21|Q9BUQ3|Q9UBE1	Missense_Mutation	SNP	ENST00000237530.6	37	CCDS13291.1	.	.	.	.	.	.	.	.	.	.	C	33	5.233900	0.95207	0.0	1.16E-4	ENSG00000118705	ENST00000456102;ENST00000237530;ENST00000373622;ENST00000373632;ENST00000338768	T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.78104	0.4231	M	0.75777	2.31	0.80722	D	1	D;D;D;D	0.71674	0.997;0.997;0.997;0.998	P;P;D;D	0.65684	0.79;0.79;0.915;0.937	T	0.80082	-0.1531	10	0.87932	D	0	-14.8215	16.7195	0.85406	0.0:1.0:0.0:0.0	.	84;177;209;209	A6NKT1;Q5JYR6;P04844;B2RE46	.;.;RPN2_HUMAN;.	V	52;209;177;225;225	ENSP00000399137:A52V;ENSP00000237530:A209V;ENSP00000362724:A177V;ENSP00000362735:A225V	ENSP00000237530:A209V	A	+	2	0	RPN2	35266654	1.000000	0.71417	0.960000	0.40013	0.948000	0.59901	5.319000	0.65835	2.814000	0.96858	0.563000	0.77884	GCG	C|1.000;T|0.000		0.468	RPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079076.2	NM_002951	
RPN2	6185	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	35833294	35833294	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr20:35833294C>T	ENST00000237530.6	+	6	991	c.680C>T	c.(679-681)tCc>tTc	p.S227F	RPN2_ENST00000373622.5_Missense_Mutation_p.S195F	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II	227					aging (GO:0007568)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|gene expression (GO:0010467)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	autophagic vacuole membrane (GO:0000421)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|oligosaccharyltransferase complex (GO:0008250)|rough endoplasmic reticulum (GO:0005791)	ribosome binding (GO:0043022)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				ACTGAGCCATCCATTAAGGAG	0.473																																					p.S227F		.											.	RPN2-93	0			c.C680T						.						88.0	82.0	84.0					20																	35833294		2203	4300	6503	SO:0001583	missense	6185	exon6			AGCCATCCATTAA	Y00282	CCDS13291.1, CCDS46599.1	20q12-q13.1	2013-03-06			ENSG00000118705	ENSG00000118705			10382	protein-coding gene	gene with protein product	"""oligosaccharyltransferase complex subunit (non-catalytic)"""	180490					Standard	NM_002951		Approved	SWP1, RPNII, RIBIIR, RPN-II	uc002xgp.3	P04844	OTTHUMG00000032409	ENST00000237530.6:c.680C>T	20.37:g.35833294C>T	ENSP00000237530:p.Ser227Phe	115	0		158	66	NM_002951	0	0	0	0	0	Q5JYR6|Q6IBA5|Q96E21|Q9BUQ3|Q9UBE1	Missense_Mutation	SNP	ENST00000237530.6	37	CCDS13291.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.398401	0.83120	.	.	ENSG00000118705	ENST00000456102;ENST00000237530;ENST00000373622;ENST00000373632;ENST00000338768	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	5.39	5.39	0.77823	.	0.184267	0.48286	D	0.000181	T	0.34832	0.0911	N	0.14661	0.345	0.43300	D	0.995299	P;P;P;P	0.45634	0.855;0.501;0.863;0.854	B;B;P;P	0.45681	0.366;0.295;0.49;0.49	T	0.21314	-1.0249	10	0.56958	D	0.05	-17.8487	16.6999	0.85346	0.0:1.0:0.0:0.0	.	102;195;227;227	A6NKT1;Q5JYR6;P04844;B2RE46	.;.;RPN2_HUMAN;.	F	70;227;195;243;243	ENSP00000399137:S70F;ENSP00000237530:S227F;ENSP00000362724:S195F;ENSP00000362735:S243F	ENSP00000237530:S227F	S	+	2	0	RPN2	35266708	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.047000	0.76599	2.809000	0.96659	0.557000	0.71058	TCC	.		0.473	RPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079076.2	NM_002951	
TGM2	7052	broad.mit.edu;bcgsc.ca	37	20	36767875	36767875	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr20:36767875G>A	ENST00000361475.2	-	9	1454	c.1281C>T	c.(1279-1281)agC>agT	p.S427S	TGM2_ENST00000536724.1_Silent_p.S367S|TGM2_ENST00000536701.1_Silent_p.S346S	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2	427					apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|branching involved in salivary gland morphogenesis (GO:0060445)|isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein homooligomerization (GO:0051260)|salivary gland cavitation (GO:0060662)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	CGCTCTTAGTGCTGATCTTCA	0.537																																					p.S427S		.											.	TGM2-155	0			c.C1281T						.						127.0	95.0	106.0					20																	36767875		2203	4300	6503	SO:0001819	synonymous_variant	7052	exon9			CTTAGTGCTGATC	M98478	CCDS13302.1	20q12	2013-05-02	2013-05-02		ENSG00000198959	ENSG00000198959	2.3.2.13	"""Transglutaminases"""	11778	protein-coding gene	gene with protein product	"""C polypeptide, protein-glutamine-gamma-glutamyltransferase"""	190196	"""transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase)"""			7912692, 11390390	Standard	NM_004613		Approved	TGC	uc002xhr.3	P21980	OTTHUMG00000032437	ENST00000361475.2:c.1281C>T	20.37:g.36767875G>A		247	2		308	18	NM_198951	0	0	63	65	2	E1P5V9|Q16436|Q6B838|Q9BTN7|Q9UH35	Silent	SNP	ENST00000361475.2	37	CCDS13302.1																																																																																			.		0.537	TGM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079151.2	NM_198951	
LBP	3929	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	36997687	36997687	+	Missense_Mutation	SNP	C	C	T	rs146665734		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr20:36997687C>T	ENST00000217407.2	+	10	1191	c.1030C>T	c.(1030-1032)Ccc>Tcc	p.P344S		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	344					acute-phase response (GO:0006953)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|detection of molecule of bacterial origin (GO:0032490)|innate immune response (GO:0045087)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of tumor necrosis factor production (GO:0032720)|opsonization (GO:0008228)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of macrophage activation (GO:0043032)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of respiratory burst involved in inflammatory response (GO:0060265)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|response to lipopolysaccharide (GO:0032496)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	lipopolysaccharide binding (GO:0001530)|lipoteichoic acid binding (GO:0070891)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				GGGATCAGTGCCCTCTGCTCC	0.517													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18559	0.0		0.0	False		,,,				2504	0.0				p.P344S		.											.	LBP-91	0			c.C1030T						.	C	SER/PRO	4,4402	8.1+/-20.4	0,4,2199	121.0	119.0	119.0		1030	-4.7	0.0	20	dbSNP_134	119	0,8600		0,0,4300	yes	missense	LBP	NM_004139.2	74	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	benign	344/482	36997687	4,13002	2203	4300	6503	SO:0001583	missense	3929	exon10			TCAGTGCCCTCTG		CCDS13304.1	20q11.23	2011-08-16	2001-11-28		ENSG00000129988	ENSG00000129988		"""BPI fold containing"""	6517	protein-coding gene	gene with protein product	"""BPI fold containing family D, member 2"""	151990	"""lipopolysaccharide-binding protein"""			8432532	Standard	NM_004139		Approved	BPIFD2	uc002xic.2	P18428	OTTHUMG00000032447	ENST00000217407.2:c.1030C>T	20.37:g.36997687C>T	ENSP00000217407:p.Pro344Ser	59	0		86	35	NM_004139	0	0	0	0	0	B2R938|O43438|Q92672|Q9H403|Q9UD66	Missense_Mutation	SNP	ENST00000217407.2	37	CCDS13304.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.817294	0.00595	9.08E-4	0.0	ENSG00000129988	ENST00000217407;ENST00000538599	T	0.07567	3.18	5.54	-4.68	0.03309	Lipid-binding serum glycoprotein, C-terminal (2);Bactericidal permeability-increasing protein, alpha/beta domain (1);	1.928540	0.02131	N	0.056380	T	0.03220	0.0094	N	0.05383	-0.06	0.09310	N	1	B	0.10296	0.003	B	0.15052	0.012	T	0.34079	-0.9843	10	0.07990	T	0.79	-2.7809	2.1333	0.03755	0.3409:0.1973:0.3561:0.1057	.	344	P18428	LBP_HUMAN	S	344	ENSP00000217407:P344S	ENSP00000217407:P344S	P	+	1	0	LBP	36431101	0.000000	0.05858	0.000000	0.03702	0.221000	0.24807	-0.855000	0.04295	-0.533000	0.06323	-1.720000	0.00707	CCC	C|1.000;T|0.000		0.517	LBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079174.2	NM_004139	
ZHX3	23051	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	39830791	39830791	+	Missense_Mutation	SNP	C	C	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr20:39830791C>A	ENST00000309060.3	-	4	3181	c.2766G>T	c.(2764-2766)gaG>gaT	p.E922D	ZHX3_ENST00000559234.1_Missense_Mutation_p.E922D|ZHX3_ENST00000560361.1_Missense_Mutation_p.E922D|ZHX3_ENST00000432768.2_Missense_Mutation_p.E922D|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000544979.2_Intron|ZHX3_ENST00000540170.1_Missense_Mutation_p.E922D|ZHX3_ENST00000558993.1_Intron			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	922					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)				TCTCAGACACCTCTGAATAGG	0.602																																					p.E922D		.											.	ZHX3-93	0			c.G2766T						.						127.0	118.0	121.0					20																	39830791		2203	4300	6503	SO:0001583	missense	23051	exon3			AGACACCTCTGAA	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.2766G>T	20.37:g.39830791C>A	ENSP00000312222:p.Glu922Asp	129	0		164	69	NM_015035	0	0	16	25	9	E1P5W5|F5H820|O43145|Q6NUJ7	Missense_Mutation	SNP	ENST00000309060.3	37	CCDS13315.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.17|12.17	1.857341|1.857341	0.32791|0.32791	.|.	.|.	ENSG00000174306|ENSG00000174306	ENST00000309060;ENST00000373263;ENST00000540170;ENST00000373262|ENST00000421422	T;T|.	0.12255|.	2.7;2.7|.	6.02|6.02	1.8|1.8	0.24995|0.24995	.|.	0.128306|.	0.50627|.	D|.	0.000118|.	T|T	0.34106|0.34106	0.0886|0.0886	L|L	0.34521|0.34521	1.04|1.04	0.25720|0.25720	N|N	0.98539|0.98539	P;P|.	0.49358|.	0.923;0.923|.	B;B|.	0.43838|.	0.433;0.433|.	T|T	0.23226|0.23226	-1.0194|-1.0194	10|5	0.72032|.	D|.	0.01|.	-8.1044|-8.1044	9.2838|9.2838	0.37744|0.37744	0.0:0.5663:0.0:0.4337|0.0:0.5663:0.0:0.4337	.|.	922;922|.	A8K8Q0;Q9H4I2|.	.;ZHX3_HUMAN|.	D|C	922;922;922;700|631	ENSP00000362360:E922D;ENSP00000442290:E922D|.	ENSP00000312222:E922D|.	E|G	-|-	3|1	2|0	ZHX3|ZHX3	39264205|39264205	0.014000|0.014000	0.17966|0.17966	0.921000|0.921000	0.36526|0.36526	0.795000|0.795000	0.44927|0.44927	-0.021000|-0.021000	0.12504|0.12504	0.392000|0.392000	0.25172|0.25172	0.655000|0.655000	0.94253|0.94253	GAG|GGT	.		0.602	ZHX3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079262.3	NM_015035	
PTPRT	11122	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	40713472	40713472	+	Missense_Mutation	SNP	T	T	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr20:40713472T>G	ENST00000373187.1	-	29	3985	c.3986A>C	c.(3985-3987)tAt>tCt	p.Y1329S	PTPRT_ENST00000373198.4_Missense_Mutation_p.Y1348S|PTPRT_ENST00000373190.1_Missense_Mutation_p.Y1328S|PTPRT_ENST00000373184.1_Missense_Mutation_p.Y1339S|PTPRT_ENST00000373201.1_Missense_Mutation_p.Y1319S|PTPRT_ENST00000373193.3_Missense_Mutation_p.Y1332S|PTPRT_ENST00000356100.2_Missense_Mutation_p.Y1338S			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1329	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.		Y -> F (in a colorectal cancer). {ECO:0000269|PubMed:15155950}.		cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GACTATACGATAACCATCCTG	0.582																																					p.Y1348S		.											.	PTPRT-664	0			c.A4043C						.						60.0	66.0	64.0					20																	40713472		2080	4191	6271	SO:0001583	missense	11122	exon30			ATACGATAACCAT	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.3986A>C	20.37:g.40713472T>G	ENSP00000362283:p.Tyr1329Ser	136	0		169	78	NM_133170	0	0	0	0	0	A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	T	19.25	3.791395	0.70452	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	D;D;D;D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57;-1.57;-1.57;-1.57	5.55	5.55	0.83447	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.134613	0.51477	D	0.000081	T	0.79209	0.4407	N	0.05050	-0.12	0.80722	D	1	P;P	0.51933	0.936;0.949	P;P	0.56343	0.693;0.796	D	0.84054	0.0371	10	0.62326	D	0.03	.	15.8615	0.79026	0.0:0.0:0.0:1.0	.	1351;1329	O14522-1;O14522	.;PTPRT_HUMAN	S	1328;1329;1332;1338;1351;1339;1319	ENSP00000362286:Y1328S;ENSP00000362283:Y1329S;ENSP00000362289:Y1332S;ENSP00000348408:Y1338S;ENSP00000362294:Y1351S;ENSP00000362280:Y1339S;ENSP00000362297:Y1319S	ENSP00000348408:Y1338S	Y	-	2	0	PTPRT	40146886	1.000000	0.71417	0.944000	0.38274	0.974000	0.67602	7.766000	0.85320	2.333000	0.79357	0.533000	0.62120	TAT	.		0.582	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1		
JPH2	57158	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	42788359	42788359	+	Silent	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr20:42788359C>T	ENST00000372980.3	-	2	1940	c.1068G>A	c.(1066-1068)caG>caA	p.Q356Q		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	356					calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport into cytosol (GO:0060402)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle tissue development (GO:0055024)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium-release channel activity (GO:0015278)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			TGCTCTTGAGCTGCAGCATGC	0.667																																					p.Q356Q		.											.	JPH2-91	0			c.G1068A						.						51.0	43.0	46.0					20																	42788359		2203	4300	6503	SO:0001819	synonymous_variant	57158	exon2			CTTGAGCTGCAGC	AL034419	CCDS13325.1, CCDS13326.1	20q12-q13.11	2014-09-17			ENSG00000149596	ENSG00000149596			14202	protein-coding gene	gene with protein product		605267				10891348, 10949023	Standard	XM_006723832		Approved	JP-2	uc002xli.1	Q9BR39	OTTHUMG00000033037	ENST00000372980.3:c.1068G>A	20.37:g.42788359C>T		90	1		163	74	NM_020433	0	0	0	2	2	E1P5X1|O95913|Q5JY74|Q9UJN4	Silent	SNP	ENST00000372980.3	37	CCDS13325.1																																																																																			.		0.667	JPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080307.1		
WISP2	8839	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	43348580	43348580	+	Missense_Mutation	SNP	C	C	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr20:43348580C>A	ENST00000372868.2	+	3	446	c.103C>A	c.(103-105)Cca>Aca	p.P35T	RP11-445H22.4_ENST00000427598.1_RNA|RP11-445H22.4_ENST00000427303.1_RNA|WISP2_ENST00000372865.4_Missense_Mutation_p.P35T|RP11-445H22.4_ENST00000445420.1_RNA|WISP2_ENST00000190983.4_Missense_Mutation_p.P35T			O76076	WISP2_HUMAN	WNT1 inducible signaling pathway protein 2	35	IGFBP N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00653}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				skin(1)	1		Myeloproliferative disorder(115;0.0122)				CTGCCCCTGGCCACCTCCCCG	0.667																																					p.P35T		.											.	WISP2-130	0			c.C103A						.						46.0	36.0	40.0					20																	43348580		2202	4298	6500	SO:0001583	missense	8839	exon2			CCCTGGCCACCTC	AF100780	CCDS13336.1	20q13.12	2007-05-14			ENSG00000064205	ENSG00000064205			12770	protein-coding gene	gene with protein product		603399				9843955	Standard	NM_003881		Approved	CT58, CTGF-L, CCN5	uc002xmp.3	O76076	OTTHUMG00000033071	ENST00000372868.2:c.103C>A	20.37:g.43348580C>A	ENSP00000361959:p.Pro35Thr	98	0		117	52	NM_003881	0	0	90	100	10	B2R9N4|E1P612|Q6PEG3	Missense_Mutation	SNP	ENST00000372868.2	37	CCDS13336.1	.	.	.	.	.	.	.	.	.	.	C	0.329	-0.957331	0.02267	.	.	ENSG00000064205	ENST00000372868;ENST00000372865;ENST00000190983	T;T;T	0.62105	0.05;0.05;0.05	5.41	-0.0962	0.13637	Insulin-like growth factor-binding protein, IGFBP (3);	0.970398	0.08511	N	0.934937	T	0.28599	0.0708	N	0.02286	-0.61	0.09310	N	0.999998	B;B	0.15719	0.014;0.002	B;B	0.12837	0.008;0.005	T	0.25082	-1.0142	10	0.13853	T	0.58	-30.124	2.9925	0.05988	0.3992:0.3624:0.0918:0.1466	.	35;35	Q6PEG3;O76076	.;WISP2_HUMAN	T	35	ENSP00000361959:P35T;ENSP00000361956:P35T;ENSP00000190983:P35T	ENSP00000190983:P35T	P	+	1	0	WISP2	42781994	0.000000	0.05858	0.994000	0.49952	0.083000	0.17756	-0.885000	0.04161	0.619000	0.30197	-0.149000	0.13747	CCA	.		0.667	WISP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127824.1	NM_003881	
KCNS1	3787	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	43726370	43726370	+	Missense_Mutation	SNP	C	C	T	rs375471015		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr20:43726370C>T	ENST00000306117.1	-	4	1439	c.1043G>A	c.(1042-1044)cGc>cAc	p.R348H	KCNS1_ENST00000537075.1_Missense_Mutation_p.R348H	NM_002251.3	NP_002242.2	Q96KK3	KCNS1_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 1	348					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	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(1)|lung(3)|ovary(1)|stomach(1)	6		Myeloproliferative disorder(115;0.0122)				GCGGAAGATGCGCATGAGGCG	0.662																																					p.R348H		.											.	KCNS1-90	0			c.G1043A						.						55.0	44.0	48.0					20																	43726370		2203	4299	6502	SO:0001583	missense	3787	exon4			AAGATGCGCATGA	AF043473	CCDS13342.1	20q12	2011-07-05			ENSG00000124134	ENSG00000124134		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6300	protein-coding gene	gene with protein product		602905				9305895, 16382104	Standard	NM_002251		Approved	Kv9.1	uc002xnc.3	Q96KK3	OTTHUMG00000033079	ENST00000306117.1:c.1043G>A	20.37:g.43726370C>T	ENSP00000307694:p.Arg348His	121	0		166	87	NM_002251	0	0	0	0	0	A2RUL9|B7ZM31|O43652|Q6DJU6	Missense_Mutation	SNP	ENST00000306117.1	37	CCDS13342.1	.	.	.	.	.	.	.	.	.	.	C	33	5.234470	0.95207	.	.	ENSG00000124134	ENST00000306117;ENST00000537075	D;D	0.99591	-6.24;-6.24	5.31	5.31	0.75309	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99760	0.9903	H	0.94542	3.55	0.58432	D	0.999992	D	0.89917	1.0	D	0.97110	1.0	D	0.97240	0.9890	10	0.87932	D	0	.	18.9863	0.92771	0.0:1.0:0.0:0.0	.	348	Q96KK3	KCNS1_HUMAN	H	348	ENSP00000307694:R348H;ENSP00000445595:R348H	ENSP00000307694:R348H	R	-	2	0	KCNS1	43159784	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.633000	0.83260	2.490000	0.84030	0.561000	0.74099	CGC	.		0.662	KCNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080507.3	NM_002251	
DNTTIP1	116092	hgsc.bcm.edu	37	20	44420682	44420682	+	Silent	SNP	T	T	C	rs2664591	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr20:44420682T>C	ENST00000372622.3	+	1	107	c.39T>C	c.(37-39)ccT>ccC	p.P13P	WFDC3_ENST00000243938.4_5'Flank|WFDC3_ENST00000481847.1_5'Flank|WFDC3_ENST00000372630.2_5'Flank|WFDC3_ENST00000372632.2_5'Flank	NM_052951.2	NP_443183.1	Q9H147	TDIF1_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 1	13						nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9		Myeloproliferative disorder(115;0.0122)				CGCGGGGACCTAGCGGGGCCG	0.746													C|||	3358	0.670527	0.6952	0.7968	5008	,	,		12080	0.6458		0.7058	False		,,,				2504	0.5368				p.P13P		.											.	DNTTIP1-91	0			c.T39C						.	C		2483,791		949,585,103	4.0	6.0	5.0		39	1.1	0.9	20	dbSNP_100	5	5222,1736		1983,1256,240	no	coding-synonymous	DNTTIP1	NM_052951.2		2932,1841,343	CC,CT,TT		24.9497,24.16,24.697		13/330	44420682	7705,2527	1637	3479	5116	SO:0001819	synonymous_variant	116092	exon1			GGGACCTAGCGGG	AB035676	CCDS13369.1	20q13.12	2003-09-10	2003-09-10	2003-09-12	ENSG00000101457	ENSG00000101457			16160	protein-coding gene	gene with protein product	"""novel protein similar to synaptotagmin 1 (SYT1, P65) (isoform 1)"", ""TdT binding protein"""	611388	"""chromosome 20 open reading frame 167"""	C20orf167		11473582	Standard	NM_052951		Approved	dJ447F3.4, Tdif1	uc002xpk.3	Q9H147	OTTHUMG00000032610	ENST00000372622.3:c.39T>C	20.37:g.44420682T>C		0	0		6	6	NM_052951	0	0	0	7	7	B2RA18|Q96DE3|Q9BQP2|Q9H148	Silent	SNP	ENST00000372622.3	37	CCDS13369.1																																																																																			T|0.311;C|0.689		0.746	DNTTIP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079502.1	NM_052951	
ZSWIM3	140831	broad.mit.edu	37	20	44486488	44486488	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr20:44486488G>A	ENST00000255152.2	+	1	233	c.24G>A	c.(22-24)aaG>aaA	p.K8K	ZSWIM3_ENST00000454862.2_5'UTR|ACOT8_ENST00000217455.4_5'Flank	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	8							zinc ion binding (GO:0008270)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				GCTGCTTCAAGACCTATGAGG	0.592																																					p.K8K		.											.	ZSWIM3-92	0			c.G24A						.						149.0	148.0	149.0					20																	44486488		2203	4300	6503	SO:0001819	synonymous_variant	140831	exon1			CTTCAAGACCTAT	AL008726	CCDS13381.1	20q13.12	2014-06-13	2003-12-17	2003-12-19	ENSG00000132801	ENSG00000132801		"""Zinc fingers, SWIM-type"""	16157	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 174"""		"""chromosome 20 open reading frame 164"""	C20orf164			Standard	NM_080752		Approved	dJ337O18.7, PPP1R174	uc002xqd.3	Q96MP5	OTTHUMG00000032627	ENST00000255152.2:c.24G>A	20.37:g.44486488G>A		94	0		117	6	NM_080752	0	0	1	1	0	Q9BR13	Silent	SNP	ENST00000255152.2	37	CCDS13381.1																																																																																			.		0.592	ZSWIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079540.1	NM_080752	
ZNF335	63925	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	44586256	44586256	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr20:44586256G>A	ENST00000322927.2	-	17	2511	c.2411C>T	c.(2410-2412)gCt>gTt	p.A804V	ZNF335_ENST00000426788.1_Missense_Mutation_p.A649V	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	804					brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				TTCCCGCTGAGCACTCATGTT	0.632																																					p.A804V		.											.	ZNF335-94	0			c.C2411T						.						60.0	54.0	56.0					20																	44586256		2203	4300	6503	SO:0001583	missense	63925	exon17			CGCTGAGCACTCA	AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026		"""Zinc fingers, C2H2-type"""	15807	protein-coding gene	gene with protein product	"""NRC-interacting factor 1"""	610827				12215545, 19131338	Standard	NM_022095		Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.2411C>T	20.37:g.44586256G>A	ENSP00000325326:p.Ala804Val	108	1		119	31	NM_022095	0	0	2	3	1	B4DLG7|Q548D0|Q9H684	Missense_Mutation	SNP	ENST00000322927.2	37	CCDS13389.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.910270	0.52439	.	.	ENSG00000198026	ENST00000322927;ENST00000243961;ENST00000426788	T;T	0.09445	3.11;2.98	5.26	5.26	0.73747	.	0.267225	0.36374	N	0.002631	T	0.08492	0.0211	N	0.14661	0.345	0.09310	N	1	B;B	0.19200	0.034;0.02	B;B	0.24394	0.053;0.024	T	0.28650	-1.0037	10	0.35671	T	0.21	-7.3961	16.1908	0.81987	0.0:0.0:1.0:0.0	.	649;804	Q9H4Z2-2;Q9H4Z2	.;ZN335_HUMAN	V	804;581;649	ENSP00000325326:A804V;ENSP00000397098:A649V	ENSP00000243961:A581V	A	-	2	0	ZNF335	44019663	0.938000	0.31826	0.034000	0.17996	0.925000	0.55904	3.833000	0.55790	2.735000	0.93741	0.563000	0.77884	GCT	.		0.632	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079553.1	NM_022095	
ZMYND8	23613	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	45865241	45865241	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr20:45865241G>A	ENST00000311275.7	-	16	2878	c.2625C>T	c.(2623-2625)atC>atT	p.I875I	ZMYND8_ENST00000540497.1_Silent_p.I823I|ZMYND8_ENST00000471951.2_Silent_p.I895I|ZMYND8_ENST00000372023.3_Silent_p.I824I|ZMYND8_ENST00000355972.4_Silent_p.I875I|ZMYND8_ENST00000446994.2_Silent_p.I766I|ZMYND8_ENST00000262975.4_Silent_p.I829I|ZMYND8_ENST00000458360.2_Silent_p.I743I|ZMYND8_ENST00000360911.3_Silent_p.I824I|ZMYND8_ENST00000352431.2_Silent_p.I849I|ZMYND8_ENST00000461685.1_Silent_p.I849I|ZMYND8_ENST00000396281.4_Silent_p.I875I|ZMYND8_ENST00000536340.1_Silent_p.I902I|ZMYND8_ENST00000468376.2_5'Flank	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	875					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			GGCTCTGTGTGATCTCCTTCT	0.587																																					p.I849I		.											.	ZMYND8-252	0			c.C2547T						.						181.0	120.0	141.0					20																	45865241		2203	4300	6503	SO:0001819	synonymous_variant	23613	exon16			CTGTGTGATCTCC	U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"""Zinc fingers, MYND-type"", ""Zinc fingers, PHD-type"""	9397	protein-coding gene	gene with protein product		615713	"""protein kinase C binding protein 1"""	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.2625C>T	20.37:g.45865241G>A		108	0		139	64	NM_183047	0	0	11	21	10	B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Silent	SNP	ENST00000311275.7	37		.	.	.	.	.	.	.	.	.	.	G	9.862	1.196587	0.22037	.	.	ENSG00000101040	ENST00000467200	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	T	0.64907	0.2641	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62483	-0.6845	4	.	.	.	0.0211	12.4271	0.55553	0.0767:0.0:0.9233:0.0	.	.	.	.	Y	757	.	.	H	-	1	0	ZMYND8	45298648	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.212000	0.51145	2.695000	0.91970	0.655000	0.94253	CAC	.		0.587	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2	NM_183047	
KCNB1	3745	ucsc.edu;bcgsc.ca	37	20	47991197	47991197	+	Silent	SNP	G	G	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr20:47991197G>T	ENST00000371741.4	-	2	1066	c.900C>A	c.(898-900)cgC>cgA	p.R300R		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	300					energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	TTCGCATGATGCGGAAGATCT	0.537																																					p.R300R		.											.	KCNB1-92	0			c.C900A						.						88.0	81.0	83.0					20																	47991197		2203	4300	6503	SO:0001819	synonymous_variant	3745	exon2			CATGATGCGGAAG	AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.900C>A	20.37:g.47991197G>T		192	2		202	84	NM_004975	0	0	0	0	0	Q14193	Silent	SNP	ENST00000371741.4	37	CCDS13418.1																																																																																			.		0.537	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080374.3	NM_004975	
TMEM189-UBE2V1	387522	hgsc.bcm.edu	37	20	48770159	48770159	+	Missense_Mutation	SNP	T	T	C	rs232733		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr20:48770159T>C	ENST00000341698.2	-	1	15	c.16A>G	c.(16-18)Aac>Gac	p.N6D	TMEM189_ENST00000371650.5_Missense_Mutation_p.N6D|TMEM189_ENST00000557021.1_Missense_Mutation_p.N6D|TMEM189_ENST00000371652.4_Missense_Mutation_p.N6D	NM_001257399.1	NP_001244328.1			TMEM189-UBE2V1 readthrough											breast(1)|endometrium(4)|large_intestine(6)|lung(6)	17			BRCA - Breast invasive adenocarcinoma(9;8.29e-07)			CCCGGCCAGTTCTCGGCGCCC	0.766													C|||	5008	1.0	1.0	1.0	5008	,	,		6103	1.0		1.0	False		,,,				2504	1.0				p.N6D		.											.	TMEM189-22	0			c.A16G						.						2.0	2.0	2.0					20																	48770159		1101	2248	3349	SO:0001583	missense	387521	exon1			GCCAGTTCTCGGC	U39361	CCDS13424.1	20q13.13	2011-05-31			ENSG00000124208	ENSG00000124208			33521	other	readthrough						11076860	Standard	NM_199203		Approved	Kua-UEV, CROC-1B	uc002xvf.3		OTTHUMG00000033085	ENST00000341698.2:c.16A>G	20.37:g.48770159T>C	ENSP00000344166:p.Asn6Asp	0	0		9	8	NM_199129	0	0	0	3	3		Missense_Mutation	SNP	ENST00000341698.2	37	CCDS13424.1	2182	0.9990842490842491	492	1.0	360	0.994475138121547	572	1.0	758	1.0	C	0.054	-1.242740	0.01481	.	.	ENSG00000124208;ENSG00000240849;ENSG00000240849;ENSG00000240849	ENST00000341698;ENST00000557021;ENST00000371650;ENST00000371652	T;T;T;T	0.46819	0.86;0.86;1.11;1.11	3.81	0.707	0.18139	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.40757	-0.9546	8	0.02654	T	1	.	3.4688	0.07559	0.1731:0.5239:0.0:0.303	rs232733;rs674252;rs56654084	6;6;6	Q5TGE1;A5PLL7;G3V2F7	.;TM189_HUMAN;.	D	6	ENSP00000344166:N6D;ENSP00000450635:N6D;ENSP00000360713:N6D;ENSP00000360715:N6D	ENSP00000360713:N6D	N	-	1	0	TMEM189-UBE2V1;TMEM189	48203566	1.000000	0.71417	0.503000	0.27626	0.073000	0.16967	0.497000	0.22514	-0.274000	0.09232	-2.268000	0.00277	AAC	C|0.999;T|0.001		0.766	TMEM189-UBE2V1-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000080532.5		
ADNP	23394	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	49508387	49508387	+	Missense_Mutation	SNP	C	C	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr20:49508387C>G	ENST00000396029.3	-	5	3431	c.2864G>C	c.(2863-2865)aGt>aCt	p.S955T	ADNP_ENST00000396032.3_Missense_Mutation_p.S955T|ADNP_ENST00000371602.4_Missense_Mutation_p.S955T|ADNP_ENST00000349014.3_Missense_Mutation_p.S955T	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	955					negative regulation of neuron apoptotic process (GO:0043524)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						GTCAACCTCACTATCAGATGC	0.443																																					p.S955T		.											.	ADNP-92	0			c.G2864C						.						175.0	167.0	170.0					20																	49508387		2203	4300	6503	SO:0001583	missense	23394	exon5			ACCTCACTATCAG	AF250860	CCDS13433.1	20q13.13	2011-06-20	2007-07-17		ENSG00000101126	ENSG00000101126		"""Homeoboxes / ZF class"""	15766	protein-coding gene	gene with protein product	"""ADNP homeobox 1"""	611386	"""activity-dependent neuroprotector"""			9872452, 11013255	Standard	NM_015339		Approved	KIAA0784, ADNP1	uc002xvu.1	Q9H2P0	OTTHUMG00000032737	ENST00000396029.3:c.2864G>C	20.37:g.49508387C>G	ENSP00000379346:p.Ser955Thr	247	0		257	97	NM_015339	0	0	50	104	54	E1P5Y2|O94881|Q5BKU2|Q9UG34	Missense_Mutation	SNP	ENST00000396029.3	37	CCDS13433.1	.	.	.	.	.	.	.	.	.	.	C	10.48	1.360680	0.24598	.	.	ENSG00000101126	ENST00000371602;ENST00000349014;ENST00000396029;ENST00000396032	.	.	.	6.17	6.17	0.99709	.	0.132495	0.53938	D	0.000043	T	0.41971	0.1182	N	0.19112	0.55	0.45216	D	0.998223	P	0.47409	0.895	B	0.38056	0.264	T	0.46911	-0.9157	9	0.72032	D	0.01	-2.291	20.8794	0.99867	0.0:1.0:0.0:0.0	.	955	Q9H2P0	ADNP_HUMAN	T	955	.	ENSP00000342905:S955T	S	-	2	0	ADNP	48941794	1.000000	0.71417	0.962000	0.40283	0.457000	0.32468	3.480000	0.53172	2.941000	0.99782	0.655000	0.94253	AGT	.		0.443	ADNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079705.2	NM_181442	
ZFP64	55734	broad.mit.edu;bcgsc.ca	37	20	50769338	50769338	+	Missense_Mutation	SNP	T	T	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr20:50769338T>A	ENST00000216923.4	-	6	1742	c.1393A>T	c.(1393-1395)Atc>Ttc	p.I465F	ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000371515.4_Missense_Mutation_p.I463F|ZFP64_ENST00000346617.4_Missense_Mutation_p.I411F|ZFP64_ENST00000477786.1_Intron	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	465					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(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						CTGGGGTCGATCTGAAACTGG	0.612																																					p.I465F		.											.	ZFP64-155	0			c.A1393T						.						69.0	52.0	58.0					20																	50769338		2203	4300	6503	SO:0001583	missense	55734	exon6			GGTCGATCTGAAA	AK001596	CCDS13439.1, CCDS13440.1, CCDS13441.1, CCDS13442.1	20q13.11-q13.13	2013-01-08	2012-11-27		ENSG00000020256	ENSG00000020256		"""Zinc fingers, C2H2-type"""	15940	protein-coding gene	gene with protein product			"""zinc finger protein 338"", ""zinc finger protein 64 homolog (mouse)"", ""zinc finger protein 64"""	ZNF338		9034307	Standard	NM_199427		Approved	FLJ10734, dJ831D17.1, FLJ12628, dJ548G19.1	uc002xwl.3	Q9NPA5	OTTHUMG00000032756	ENST00000216923.4:c.1393A>T	20.37:g.50769338T>A	ENSP00000216923:p.Ile465Phe	83	2		108	40	NM_018197	0	0	3	9	6	Q9NTS7|Q9NVH4	Missense_Mutation	SNP	ENST00000216923.4	37	CCDS13440.1	.	.	.	.	.	.	.	.	.	.	T	2.187	-0.386137	0.04966	.	.	ENSG00000020256	ENST00000216923;ENST00000346617;ENST00000371515;ENST00000546083;ENST00000371516	T;T;T	0.07114	3.22;3.27;3.23	5.48	-3.85	0.04243	.	0.639000	0.14360	N	0.324469	T	0.03520	0.0101	N	0.08118	0	0.21256	N	0.999749	B;B;B	0.27853	0.191;0.047;0.047	B;B;B	0.26614	0.071;0.024;0.024	T	0.36768	-0.9734	10	0.87932	D	0	-12.2941	7.1272	0.25479	0.0:0.3195:0.3342:0.3463	.	411;463;465	Q9NPA5-2;Q5JWM1;Q9NPA5	.;.;ZF64A_HUMAN	F	465;411;463;307;618	ENSP00000216923:I465F;ENSP00000344615:I411F;ENSP00000360570:I463F	ENSP00000216923:I465F	I	-	1	0	ZFP64	50202745	0.956000	0.32656	0.182000	0.23118	0.035000	0.12851	0.265000	0.18515	-0.485000	0.06754	-0.361000	0.07541	ATC	.		0.612	ZFP64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079744.1	NM_018197	
TSHZ2	128553	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	51872146	51872146	+	Missense_Mutation	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr20:51872146T>C	ENST00000371497.5	+	2	3036	c.2149T>C	c.(2149-2151)Tcc>Ccc	p.S717P	TSHZ2_ENST00000329613.6_Missense_Mutation_p.S714P|RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000603338.2_Missense_Mutation_p.S714P	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	717					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			GCGCTCACCTTCCTGCTCCAG	0.577																																					p.S717P		.											.	TSHZ2-232	0			c.T2149C						.						70.0	66.0	67.0					20																	51872146		2203	4300	6503	SO:0001583	missense	128553	exon2			TCACCTTCCTGCT	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.2149T>C	20.37:g.51872146T>C	ENSP00000360552:p.Ser717Pro	106	1		136	55	NM_173485	0	0	5	9	4	B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	ENST00000371497.5	37	CCDS33490.1	.	.	.	.	.	.	.	.	.	.	T	11.03	1.519090	0.27211	.	.	ENSG00000182463	ENST00000371497;ENST00000329613;ENST00000450262	T;T	0.15139	2.46;2.45	5.72	-1.48	0.08745	.	0.547311	0.20065	N	0.099983	T	0.16428	0.0395	L	0.57536	1.79	0.20975	N	0.999817	B	0.27068	0.167	B	0.23419	0.046	T	0.20107	-1.0285	10	0.45353	T	0.12	-1.2914	13.2932	0.60282	0.0:0.0646:0.668:0.2674	.	717	Q9NRE2	TSH2_HUMAN	P	717;714;243	ENSP00000360552:S717P;ENSP00000333114:S714P	ENSP00000333114:S714P	S	+	1	0	TSHZ2	51305553	0.202000	0.23423	0.182000	0.23118	0.990000	0.78478	0.909000	0.28558	-0.193000	0.10415	0.523000	0.50628	TCC	.		0.577	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485	
GNAS	2778	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	20	57429537	57429537	+	Missense_Mutation	SNP	C	C	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr20:57429537C>A	ENST00000371100.4	+	1	1769	c.1217C>A	c.(1216-1218)gCa>gAa	p.A406E	GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000371102.4_Missense_Mutation_p.A406E|GNAS_ENST00000371099.2_Missense_Mutation_p.A406E|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000306120.3_Missense_Mutation_p.Q343K|GNAS_ENST00000371075.3_Intron	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GACTCCGGGGCAACCCCAGAA	0.726			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)																											p.A406E	Colon(117;935 1597 6045 8307 46442)	.		Dom	yes		20	20q13.2	2778	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	E	.	GNAS-4767	0			c.C1217A						.						4.0	7.0	6.0					20																	57429537		1949	4058	6007	SO:0001583	missense	2778	exon1			CCGGGGCAACCCC	M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371100.4:c.1217C>A	20.37:g.57429537C>A	ENSP00000360141:p.Ala406Glu	24	0		53	22	NM_080425	0	0	0	0	0	A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	ENST00000371100.4	37	CCDS46622.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.94|14.94	2.685650|2.685650	0.47991|0.47991	.|.	.|.	ENSG00000087460|ENSG00000087460	ENST00000371099;ENST00000371100;ENST00000371102|ENST00000306120	D;D|.	0.91011|.	-2.77;-2.75|.	4.14|4.14	1.88|1.88	0.25563|0.25563	.|.	262.475000|.	0.00397|.	N|.	0.000042|.	T|T	0.34164|0.34164	0.0888|0.0888	L|L	0.48642|0.48642	1.525|1.525	0.21604|0.21604	N|N	0.999628|0.999628	P|.	0.48911|.	0.917|.	B|.	0.44315|.	0.446|.	T|T	0.25606|0.25606	-1.0127|-1.0127	10|6	0.45353|0.05525	T|T	0.12|0.97	.|.	11.5889|11.5889	0.50935|0.50935	0.0:0.6557:0.3443:0.0|0.0:0.6557:0.3443:0.0	.|.	406|.	Q5JWF2|.	GNAS1_HUMAN|.	E|K	406|343	ENSP00000360141:A406E;ENSP00000360143:A406E|.	ENSP00000360140:A406E|ENSP00000302237:Q343K	A|Q	+|+	2|1	0|0	GNAS|GNAS	56862932|56862932	0.004000|0.004000	0.15560|0.15560	0.098000|0.098000	0.21074|0.21074	0.196000|0.196000	0.23810|0.23810	0.000000|0.000000	0.12993|0.12993	0.993000|0.993000	0.38866|0.38866	0.462000|0.462000	0.41574|0.41574	GCA|CAA	.		0.726	GNAS-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080417.3	NM_000516	
SS18L1	26039	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	20	60738545	60738545	+	Silent	SNP	G	G	A	rs149920292	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr20:60738545G>A	ENST00000331758.3	+	6	614	c.588G>A	c.(586-588)tcG>tcA	p.S196S	SS18L1_ENST00000370848.4_Silent_p.S199S|SS18L1_ENST00000421564.1_Silent_p.S196S|SS18L1_ENST00000491916.1_3'UTR	NM_198935.1	NP_945173.1	O75177	CREST_HUMAN	synovial sarcoma translocation gene on chromosome 18-like 1	196	Gln-rich.|Methionine-rich intra-molecular domain. {ECO:0000250}.				chromatin modification (GO:0016568)|dendrite development (GO:0016358)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of dendrite development (GO:0050773)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)|kinetochore (GO:0000776)|nuclear body (GO:0016604)|nucleus (GO:0005634)		p.S196S(1)	SS18L1/SSX1(2)	ovary(2)|skin(1)	3	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.92e-08)			CGGCCACGTCGCACTACAGCT	0.677			T	SSX1	synovial sarcoma								G|||	3	0.000599042	0.0023	0.0	5008	,	,		11387	0.0		0.0	False		,,,				2504	0.0				p.S196S		.		Dom	yes		20	20q13.3	26039	synovial sarcoma translocation gene on chromosome 18-like 1		M	.	SS18L1-660	1	Substitution - coding silent(1)	endometrium(1)	c.G588A						.	G		6,4396		0,6,2195	32.0	36.0	34.0		588	-3.7	0.9	20	dbSNP_134	34	0,8596		0,0,4298	no	coding-synonymous	SS18L1	NM_198935.1		0,6,6493	AA,AG,GG		0.0,0.1363,0.0462		196/397	60738545	6,12992	2201	4298	6499	SO:0001819	synonymous_variant	26039	exon6			CACGTCGCACTAC	AB014593	CCDS13491.1	20q13.3	2008-07-28			ENSG00000184402	ENSG00000184402			15592	protein-coding gene	gene with protein product		606472					Standard	XM_005260389		Approved	KIAA0693	uc002ycb.3	O75177	OTTHUMG00000032902	ENST00000331758.3:c.588G>A	20.37:g.60738545G>A		61	0		169	73	NM_198935	0	0	4	7	3	A6NNE3|A8K620|B3KWR8|E1P5H7|Q5JXJ3|Q6MZV9|Q6NTH3|Q6XYD9|Q8NE69|Q9BR55|Q9H4K6	Silent	SNP	ENST00000331758.3	37	CCDS13491.1																																																																																			G|0.999;A|0.001		0.677	SS18L1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080004.2		
LAMA5	3911	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	20	60887715	60887715	+	Frame_Shift_Del	DEL	C	C	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr20:60887715delC	ENST00000252999.3	-	67	9266	c.9200delG	c.(9199-9201)ggcfs	p.G3067fs		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3067	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			GGGCGGCACGCCCCCCAGGTA	0.706																																					p.G3067fs		.											.	LAMA5-93	0			c.9200delG						.						25.0	24.0	25.0					20																	60887715		2183	4284	6467	SO:0001589	frameshift_variant	3911	exon67			GGCACGCCCCCCA	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.9200delG	20.37:g.60887715delC	ENSP00000252999:p.Gly3067fs	66	0		245	83	NM_005560	0	0	0	0	0	Q8TDF8|Q8WZA7|Q9H1P1	Frame_Shift_Del	DEL	ENST00000252999.3	37	CCDS33502.1																																																																																			.		0.706	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560	
OGFR	11054	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	61444339	61444339	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr20:61444339C>T	ENST00000290291.6	+	7	1397	c.1372C>T	c.(1372-1374)Cgg>Tgg	p.R458W	OGFR_ENST00000370461.1_Missense_Mutation_p.R406W	NM_007346.2	NP_031372.2	Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	458					opioid receptor signaling pathway (GO:0038003)|regulation of cell growth (GO:0001558)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	opioid receptor activity (GO:0004985)			endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	17	Breast(26;3.65e-08)					GGTGAGGAAGCGGAGGAAGGT	0.711																																					p.R458W		.											.	OGFR-68	0			c.C1372T						.						29.0	33.0	32.0					20																	61444339		2192	4296	6488	SO:0001583	missense	11054	exon7			AGGAAGCGGAGGA	AF109134	CCDS13504.1	20q13.3	2008-05-02			ENSG00000060491	ENSG00000060491			15768	protein-coding gene	gene with protein product		606459				10677613	Standard	NM_007346		Approved	7-60	uc002ydj.3	Q9NZT2	OTTHUMG00000032937	ENST00000290291.6:c.1372C>T	20.37:g.61444339C>T	ENSP00000290291:p.Arg458Trp	84	1		170	61	NM_007346	0	0	14	23	9	O96029|Q4VXW5|Q96CM2|Q9BQW1|Q9H4H0|Q9H7J5|Q9NZT3|Q9NZT4	Missense_Mutation	SNP	ENST00000290291.6	37	CCDS13504.1	.	.	.	.	.	.	.	.	.	.	C	16.32	3.089706	0.55968	.	.	ENSG00000060491	ENST00000290291;ENST00000357163;ENST00000370469;ENST00000370461	T;T	0.41065	1.5;1.01	4.99	0.0866	0.14447	.	0.583503	0.15493	N	0.259422	T	0.30727	0.0774	L	0.51422	1.61	0.09310	N	1	P;P;P	0.47910	0.902;0.902;0.902	B;B;B	0.35607	0.206;0.206;0.206	T	0.19614	-1.0300	10	0.87932	D	0	-31.1244	9.5941	0.39563	0.5786:0.344:0.0:0.0773	.	458;441;458	B3KMQ6;Q05BV5;Q9NZT2	.;.;OGFR_HUMAN	W	458;458;313;406	ENSP00000290291:R458W;ENSP00000359491:R406W	ENSP00000290291:R458W	R	+	1	2	OGFR	60914784	0.932000	0.31603	0.983000	0.44433	0.509000	0.34042	-0.030000	0.12308	0.101000	0.17610	0.561000	0.74099	CGG	.		0.711	OGFR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080067.1		
DIDO1	11083	broad.mit.edu	37	20	61511207	61511207	+	Frame_Shift_Del	DEL	G	G	-	rs536914525	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr20:61511207delG	ENST00000266070.4	-	16	6426	c.6101delC	c.(6100-6102)ccgfs	p.P2034fs	DIDO1_ENST00000395343.1_Frame_Shift_Del_p.P2034fs	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	2034	Pro-rich.				apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CCGGTGCTGCGGGGGGTGGCT	0.716																																					p.P2034fs	Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	.											.	DIDO1-96	0			c.6101delC						.						25.0	32.0	30.0					20																	61511207		1925	3900	5825	SO:0001589	frameshift_variant	11083	exon16			TGCTGCGGGGGGT	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.6101delC	20.37:g.61511207delG	ENSP00000266070:p.Pro2034fs	4	0		15	7	NM_001193369	0	0	0	0	0	A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Frame_Shift_Del	DEL	ENST00000266070.4	37	CCDS33506.1																																																																																			.		0.716	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796	
SRMS	6725	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	20	62178771	62178773	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	AGA	AGA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr20:62178771_62178773delAGA	ENST00000217188.1	-	1	84_86	c.44_46delTCT	c.(43-48)ttctgg>tgg	p.F15del		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	15	N-terminal.				peptidyl-tyrosine autophosphorylation (GO:0038083)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			ATCTTGTCCCAGAAGAAGGACAG	0.724																																					p.15_16del		.											.	SRMS-521	0			c.44_46del						.																																			SO:0001651	inframe_deletion	6725	exon1			TGTCCCAGAAGAA		CCDS13525.1	20q13.33	2013-02-14	2003-08-22		ENSG00000125508	ENSG00000125508		"""SH2 domain containing"""	11298	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 148"""	C20orf148		7935409	Standard	NM_080823		Approved	SRM, dJ697K14.1	uc002yfi.1	Q9H3Y6	OTTHUMG00000032977	ENST00000217188.1:c.44_46delTCT	20.37:g.62178774_62178776delAGA	ENSP00000217188:p.Phe15del	29	0		131	0	NM_080823	0	0	0	0	0		In_Frame_Del	DEL	ENST00000217188.1	37	CCDS13525.1																																																																																			.		0.724	SRMS-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080148.1	NM_080823	
TPTE	7179	broad.mit.edu;bcgsc.ca;mdanderson.org	37	21	10916394	10916394	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr21:10916394G>A	ENST00000361285.4	-	20	1581	c.1252C>T	c.(1252-1254)Cac>Tac	p.H418Y	TPTE_ENST00000415664.2_Intron|TPTE_ENST00000298232.7_Missense_Mutation_p.H400Y|TPTE_ENST00000342420.5_Missense_Mutation_p.H380Y	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	418	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ATAATGAAGTGTTTTATAAAG	0.393																																					p.H418Y		.											.	TPTE-344	0			c.C1252T						.						126.0	113.0	117.0					21																	10916394		2203	4300	6503	SO:0001583	missense	7179	exon20			TGAAGTGTTTTAT	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.1252C>T	21.37:g.10916394G>A	ENSP00000355208:p.His418Tyr	469	1		432	52	NM_199261	0	0	6	6	0	B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	6.015	0.371074	0.11409	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.84873	-1.91;-1.91;-1.91	1.79	0.505	0.16953	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.339250	0.34067	N	0.004290	T	0.61476	0.2350	N	0.08118	0	0.09310	N	1	P;B;B	0.34662	0.462;0.022;0.183	B;B;B	0.26310	0.064;0.007;0.068	T	0.56974	-0.7890	10	0.59425	D	0.04	-0.2503	2.6013	0.04867	0.2677:0.0:0.2743:0.458	.	380;400;418	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	Y	400;418;380	ENSP00000298232:H400Y;ENSP00000355208:H418Y;ENSP00000344441:H380Y	ENSP00000298232:H400Y	H	-	1	0	TPTE	9938265	0.000000	0.05858	0.001000	0.08648	0.014000	0.08584	-0.275000	0.08525	-0.239000	0.09710	-1.448000	0.01049	CAC	.		0.393	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1		
LIPI	149998	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	21	15481359	15481359	+	Silent	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr21:15481359C>T	ENST00000536861.1	-	10	1337	c.1338G>A	c.(1336-1338)gaG>gaA	p.E446E	LIPI_ENST00000344577.2_Silent_p.E467E|AP001347.6_ENST00000432621.1_RNA|AP001347.6_ENST00000428809.1_RNA			Q6XZB0	LIPI_HUMAN	lipase, member I	446					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)		GAAACACTTCCTCTCTGTCTT	0.333																																					p.E467E		.											.	LIPI-70	0			c.G1401A						.						171.0	177.0	175.0					21																	15481359		2203	4299	6502	SO:0001819	synonymous_variant	149998	exon10			CACTTCCTCTCTG	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.1338G>A	21.37:g.15481359C>T		72	0		59	28	NM_198996	0	0	0	0	0	G1JSG3|G1JSG4|G1JSG5|G1JSG6|G1JSG7|G1JSG8|G1JSG9	Silent	SNP	ENST00000536861.1	37																																																																																				.		0.333	LIPI-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_198996	
NRIP1	8204	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	21	16337877	16337877	+	Missense_Mutation	SNP	A	A	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr21:16337877A>T	ENST00000400202.1	-	3	3349	c.2637T>A	c.(2635-2637)gaT>gaA	p.D879E	AF127577.10_ENST00000446301.1_RNA|NRIP1_ENST00000318948.4_Missense_Mutation_p.D879E|NRIP1_ENST00000400199.1_Missense_Mutation_p.D879E			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	879	Interaction with ZNF366.|Repression domain 3.				androgen receptor signaling pathway (GO:0030521)|lipid storage (GO:0019915)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ovarian follicle rupture (GO:0001543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|glucocorticoid receptor binding (GO:0035259)|nuclear hormone receptor binding (GO:0035257)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		TGTTTGCAGCATCAACAATGT	0.358																																					p.D879E		.											.	NRIP1-186	0			c.T2637A						.						120.0	121.0	121.0					21																	16337877		2203	4299	6502	SO:0001583	missense	8204	exon4			TGCAGCATCAACA	X84373	CCDS13568.1	21q11.2	2008-07-31			ENSG00000180530	ENSG00000180530			8001	protein-coding gene	gene with protein product	"""receptor interacting protein 140"", ""nuclear factor RIP140"""	602490				7641693, 9521594	Standard	NM_003489		Approved	RIP140	uc002yjx.2	P48552	OTTHUMG00000074323	ENST00000400202.1:c.2637T>A	21.37:g.16337877A>T	ENSP00000383063:p.Asp879Glu	69	0		71	37	NM_003489	0	0	5	9	4	Q8IWE8	Missense_Mutation	SNP	ENST00000400202.1	37	CCDS13568.1	.	.	.	.	.	.	.	.	.	.	A	3.092	-0.186570	0.06340	.	.	ENSG00000180530	ENST00000400199;ENST00000400202;ENST00000318948	T;T;T	0.08896	3.04;3.04;3.04	5.87	-0.835	0.10775	.	0.275524	0.33144	N	0.005237	T	0.04137	0.0115	L	0.31664	0.95	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.43845	-0.9366	10	0.10111	T	0.7	-9.9563	4.2357	0.10625	0.443:0.0:0.2518:0.3051	.	879	P48552	NRIP1_HUMAN	E	879	ENSP00000383060:D879E;ENSP00000383063:D879E;ENSP00000327213:D879E	ENSP00000327213:D879E	D	-	3	2	NRIP1	15259748	1.000000	0.71417	0.921000	0.36526	0.231000	0.25187	0.884000	0.28214	-0.055000	0.13244	-0.242000	0.12053	GAT	.		0.358	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157926.1	NM_003489	
ADAMTS1	9510	hgsc.bcm.edu	37	21	28217129	28217129	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr21:28217129C>T	ENST00000284984.3	-	1	599	c.145G>A	c.(145-147)Gca>Aca	p.A49T		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	49					heart trabecula formation (GO:0060347)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|negative regulation of cell proliferation (GO:0008285)|ovulation from ovarian follicle (GO:0001542)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		CGCCCGAGTGCGTCCGACACG	0.731											OREG0026151	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A49T		.											.	ADAMTS1-272	0			c.G145A						.						5.0	6.0	6.0					21																	28217129		2098	4102	6200	SO:0001583	missense	9510	exon1			CGAGTGCGTCCGA	AF060152	CCDS33524.1	21q21.3	2008-05-14	2005-08-19		ENSG00000154734	ENSG00000154734		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	217	protein-coding gene	gene with protein product		605174	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1"""			10438512	Standard	NM_006988		Approved	C3-C5, METH1, KIAA1346	uc002ymf.3	Q9UHI8	OTTHUMG00000078688	ENST00000284984.3:c.145G>A	21.37:g.28217129C>T	ENSP00000284984:p.Ala49Thr	6	0	800	87	41	NM_006988	0	0	6	6	0	D3DSD5|Q9NSJ8|Q9P2K0|Q9UH83|Q9UP80	Missense_Mutation	SNP	ENST00000284984.3	37	CCDS33524.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.545003	0.86022	.	.	ENSG00000154734	ENST00000284984	T	0.62105	0.05	4.27	2.46	0.29980	.	.	.	.	.	T	0.51398	0.1672	L	0.46157	1.445	0.19575	N	0.999968	B	0.15930	0.015	B	0.13407	0.009	T	0.35599	-0.9782	9	0.18276	T	0.48	.	9.9329	0.41534	0.0:0.839:0.0:0.161	.	49	Q9UHI8	ATS1_HUMAN	T	49	ENSP00000284984:A49T	ENSP00000284984:A49T	A	-	1	0	ADAMTS1	27139000	0.000000	0.05858	0.030000	0.17652	0.403000	0.30841	0.704000	0.25661	0.453000	0.26858	0.555000	0.69702	GCA	.		0.731	ADAMTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171650.2		
TIAM1	7074	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	21	32585718	32585718	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr21:32585718C>T	ENST00000286827.3	-	11	2684	c.2213G>A	c.(2212-2214)gGc>gAc	p.G738D	TIAM1_ENST00000541036.1_Intron|TIAM1_ENST00000469412.1_5'UTR	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	738					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						TTTTACCTTGCCATCTGGAAC	0.353																																					p.G738D		.											.	TIAM1-724	0			c.G2213A						.						111.0	107.0	108.0					21																	32585718		2203	4300	6503	SO:0001583	missense	7074	exon11			ACCTTGCCATCTG		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.2213G>A	21.37:g.32585718C>T	ENSP00000286827:p.Gly738Asp	71	0		78	36	NM_003253	0	0	0	0	0	B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.804883	0.31961	.	.	ENSG00000156299	ENST00000286827;ENST00000399841	T	0.22134	1.97	5.38	5.38	0.77491	.	0.180906	0.49916	D	0.000125	T	0.08846	0.0219	N	0.08118	0	0.80722	D	1	B;B	0.26318	0.146;0.02	B;B	0.19148	0.024;0.018	T	0.29971	-0.9994	10	0.12103	T	0.63	.	8.5185	0.33262	0.154:0.7702:0.0:0.0758	.	579;738	E9PD83;Q13009	.;TIAM1_HUMAN	D	738;579	ENSP00000286827:G738D	ENSP00000286827:G738D	G	-	2	0	TIAM1	31507589	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.697000	0.47060	2.791000	0.96007	0.650000	0.86243	GGC	.		0.353	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253	
SCAF4	57466	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	21	33063193	33063193	+	Missense_Mutation	SNP	T	T	A	rs546557932		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr21:33063193T>A	ENST00000286835.7	-	15	2184	c.1802A>T	c.(1801-1803)tAt>tTt	p.Y601F	SCAF4_ENST00000434667.3_Missense_Mutation_p.Y586F|SCAF4_ENST00000399804.1_Missense_Mutation_p.Y601F	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	601						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						CCATGGAATATAAGTAACACC	0.378																																					p.Y601F		.											.	SCAF4-90	0			c.A1802T						.						198.0	191.0	193.0					21																	33063193		2203	4300	6503	SO:0001583	missense	57466	exon15			GGAATATAAGTAA	AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"""RNA binding motif (RRM) containing"""	19304	protein-coding gene	gene with protein product			"""splicing factor, arginine/serine-rich 15"""	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.1802A>T	21.37:g.33063193T>A	ENSP00000286835:p.Tyr601Phe	158	0		170	65	NM_020706	0	0	14	20	6	C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Missense_Mutation	SNP	ENST00000286835.7	37	CCDS33537.1	.	.	.	.	.	.	.	.	.	.	T	18.55	3.648768	0.67358	.	.	ENSG00000156304	ENST00000434667;ENST00000286835;ENST00000399804	T;T;T	0.57107	0.42;0.42;0.51	5.87	4.71	0.59529	.	0.000000	0.64402	D	0.000016	T	0.50684	0.1630	M	0.67397	2.05	0.54753	D	0.999983	B;B;B;B	0.29188	0.012;0.236;0.021;0.012	B;B;B;B	0.25884	0.012;0.064;0.027;0.012	T	0.51748	-0.8666	10	0.66056	D	0.02	-7.4917	12.4921	0.55905	0.1252:0.0:0.0:0.8747	.	586;601;601;601	C9JLZ0;C9J1W7;O95104-2;O95104	.;.;.;SFR15_HUMAN	F	586;601;601	ENSP00000402377:Y586F;ENSP00000286835:Y601F;ENSP00000382703:Y601F	ENSP00000286835:Y601F	Y	-	2	0	SCAF4	31985064	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	6.281000	0.72632	1.027000	0.39758	0.533000	0.62120	TAT	.		0.378	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000192659.1	XM_047889	
SCAF4	57466	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	21	33068463	33068463	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr21:33068463C>T	ENST00000286835.7	-	9	1413	c.1031G>A	c.(1030-1032)cGa>cAa	p.R344Q	SCAF4_ENST00000434667.3_Missense_Mutation_p.R329Q|SCAF4_ENST00000399804.1_Missense_Mutation_p.R344Q	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	344						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TCCCATCATTCGTGGCTGAAA	0.408																																					p.R344Q		.											.	SCAF4-90	0			c.G1031A						.						275.0	258.0	264.0					21																	33068463		2203	4300	6503	SO:0001583	missense	57466	exon9			ATCATTCGTGGCT	AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"""RNA binding motif (RRM) containing"""	19304	protein-coding gene	gene with protein product			"""splicing factor, arginine/serine-rich 15"""	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.1031G>A	21.37:g.33068463C>T	ENSP00000286835:p.Arg344Gln	112	0		135	48	NM_020706	0	0	7	17	10	C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Missense_Mutation	SNP	ENST00000286835.7	37	CCDS33537.1	.	.	.	.	.	.	.	.	.	.	C	16.66	3.186272	0.57909	.	.	ENSG00000156304	ENST00000434667;ENST00000286835;ENST00000399804	T;T;T	0.42900	0.97;0.97;0.96	5.71	4.82	0.62117	.	0.278601	0.30869	N	0.008719	T	0.22781	0.0550	N	0.25144	0.715	0.30250	N	0.794203	B;B;B;B	0.28971	0.147;0.029;0.229;0.147	B;B;B;B	0.18263	0.009;0.006;0.021;0.009	T	0.16689	-1.0394	10	0.06625	T	0.88	-7.0006	10.4177	0.44331	0.0:0.795:0.1354:0.0696	.	329;344;344;344	C9JLZ0;C9J1W7;O95104-2;O95104	.;.;.;SFR15_HUMAN	Q	329;344;344	ENSP00000402377:R329Q;ENSP00000286835:R344Q;ENSP00000382703:R344Q	ENSP00000286835:R344Q	R	-	2	0	SCAF4	31990334	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.943000	0.49026	1.528000	0.49103	0.650000	0.86243	CGA	.		0.408	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000192659.1	XM_047889	
SON	6651	ucsc.edu;bcgsc.ca	37	21	34922970	34922970	+	Missense_Mutation	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr21:34922970A>G	ENST00000356577.4	+	3	1908	c.1433A>G	c.(1432-1434)gAg>gGg	p.E478G	SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_Missense_Mutation_p.E478G|SON_ENST00000300278.4_Missense_Mutation_p.E478G|SON_ENST00000290239.6_Missense_Mutation_p.E478G	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	478					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						ATGGCACAGGAGTTGCCAGGG	0.582																																					p.E478G		.											.	SON-97	0			c.A1433G						.						74.0	75.0	75.0					21																	34922970		2203	4300	6503	SO:0001583	missense	6651	exon3			CACAGGAGTTGCC	AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"""G patch domain containing"""	11183	protein-coding gene	gene with protein product	"""NRE-binding protein"", ""negative regulatory element-binding protein"", ""Bax antagonist selected in Saccharomyces 1"""	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.1433A>G	21.37:g.34922970A>G	ENSP00000348984:p.Glu478Gly	495	5		552	230	NM_032195	0	0	20	39	19	D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	ENST00000356577.4	37	CCDS13629.1	.	.	.	.	.	.	.	.	.	.	A	13.86	2.363475	0.41902	.	.	ENSG00000159140	ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679	T;T;T;T	0.20332	2.24;2.21;2.21;2.08	4.78	4.78	0.61160	.	0.303339	0.26109	N	0.026288	T	0.17450	0.0419	L	0.32530	0.975	0.26539	N	0.974123	P;P;P	0.49862	0.929;0.798;0.798	B;B;B	0.42343	0.214;0.384;0.384	T	0.10965	-1.0607	10	0.66056	D	0.02	.	10.8547	0.46792	1.0:0.0:0.0:0.0	.	478;478;478	P18583;P18583-3;P18583-6	SON_HUMAN;.;.	G	478	ENSP00000348984:E478G;ENSP00000290239:E478G;ENSP00000300278:E478G;ENSP00000371095:E478G	ENSP00000290239:E478G	E	+	2	0	SON	33844840	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	1.847000	0.39299	2.128000	0.65567	0.402000	0.26972	GAG	.		0.582	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927	
ITSN1	6453	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	21	35166743	35166743	+	Silent	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr21:35166743A>G	ENST00000381318.3	+	17	2211	c.1923A>G	c.(1921-1923)gaA>gaG	p.E641E	AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Silent_p.E641E|ITSN1_ENST00000381285.4_Silent_p.E641E|ITSN1_ENST00000399326.3_Silent_p.E641E|ITSN1_ENST00000399355.2_Silent_p.E641E|ITSN1_ENST00000399352.1_Silent_p.E641E|ITSN1_ENST00000399353.1_Silent_p.E604E|ITSN1_ENST00000399338.4_Silent_p.E641E|ITSN1_ENST00000399349.1_Silent_p.E641E|ITSN1_ENST00000399367.3_Silent_p.E641E|ITSN1_ENST00000379960.5_Silent_p.E641E|ITSN1_ENST00000381291.4_Silent_p.E641E	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	641	KLERQ.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						AGATCATAGAATTAGAAAAAC	0.383																																					p.E641E		.											.	ITSN1-94	0			c.A1923G						.						77.0	82.0	80.0					21																	35166743		2203	4300	6503	SO:0001819	synonymous_variant	6453	exon17			CATAGAATTAGAA	AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.1923A>G	21.37:g.35166743A>G		154	0		220	111	NM_001001132	0	0	11	14	3	A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Silent	SNP	ENST00000381318.3	37	CCDS33545.1																																																																																			.		0.383	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024	
UMODL1	89766	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	21	43510406	43510406	+	Splice_Site	SNP	A	A	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr21:43510406A>T	ENST00000408910.2	+	6	790		c.e6-1		UMODL1_ENST00000408989.2_Splice_Site|UMODL1_ENST00000400427.1_Splice_Site|UMODL1_ENST00000400424.2_Splice_Site	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1						adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CCTTCCCTGTAGATGTCAATG	0.557																																					.	Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	.											.	UMODL1-93	0			c.575-2A>T						.						117.0	118.0	117.0					21																	43510406		2165	4262	6427	SO:0001630	splice_region_variant	89766	exon6			CCCTGTAGATGTC		CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"""olfactorin"""	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.791-1A>T	21.37:g.43510406A>T		144	0		162	81	NM_001199527	0	0	0	0	0	C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Splice_Site	SNP	ENST00000408910.2	37	CCDS42936.1	.	.	.	.	.	.	.	.	.	.	A	8.314	0.822692	0.16678	.	.	ENSG00000177398	ENST00000400427;ENST00000400424;ENST00000408989;ENST00000408910;ENST00000380462;ENST00000400417;ENST00000423139	.	.	.	3.89	3.89	0.44902	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.671	0.40013	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	UMODL1	42383475	0.995000	0.38212	0.324000	0.25361	0.156000	0.22039	4.324000	0.59228	1.707000	0.51288	0.260000	0.18958	.	.		0.557	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2		Intron
UMODL1	89766	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	21	43531012	43531012	+	Silent	SNP	C	C	T	rs553173917		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr21:43531012C>T	ENST00000408910.2	+	11	1680	c.1680C>T	c.(1678-1680)ggC>ggT	p.G560G	C21orf128_ENST00000329015.2_5'Flank|UMODL1_ENST00000408989.2_Silent_p.G560G|UMODL1_ENST00000400427.1_Silent_p.G488G|UMODL1_ENST00000400424.2_Silent_p.G488G	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	560					adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						GCCCCATGGGCGGTGGACTGT	0.632													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15285	0.0		0.0	False		,,,				2504	0.0				p.G560G	Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	.											.	UMODL1-93	0			c.C1680T						.						24.0	30.0	28.0					21																	43531012		2071	4208	6279	SO:0001819	synonymous_variant	89766	exon11			CATGGGCGGTGGA		CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"""olfactorin"""	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.1680C>T	21.37:g.43531012C>T		241	0		293	145	NM_173568	0	0	0	0	0	C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Silent	SNP	ENST00000408910.2	37	CCDS42936.1																																																																																			.		0.632	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2		
UBASH3A	53347	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	21	43864737	43864737	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr21:43864737C>T	ENST00000319294.6	+	14	1863	c.1832C>T	c.(1831-1833)gCc>gTc	p.A611V	UBASH3A_ENST00000291535.6_Missense_Mutation_p.A573V|UBASH3A_ENST00000398367.1_Intron	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	611	Phosphatase-like.				negative regulation of T cell receptor signaling pathway (GO:0050860)|regulation of cytokine production (GO:0001817)	cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						GGGGATTTTGCCCAACTCGTG	0.567																																					p.A611V		.											.	UBASH3A-93	0			c.C1832T						.						80.0	85.0	84.0					21																	43864737		2203	4300	6503	SO:0001583	missense	53347	exon14			ATTTTGCCCAACT	AJ277750	CCDS13687.1, CCDS33566.1, CCDS58791.1	21q22.3	2010-04-28	2010-04-28		ENSG00000160185	ENSG00000160185			12462	protein-coding gene	gene with protein product		605736				11281453	Standard	NM_018961		Approved	STS-2, TULA, CLIP4	uc002zbf.3	P57075	OTTHUMG00000086805	ENST00000319294.6:c.1832C>T	21.37:g.43864737C>T	ENSP00000317327:p.Ala611Val	61	0		86	39	NM_018961	0	0	0	2	2	G5E9E4|Q6HA34|Q6HA35|Q6ISI6|Q6ISK3|Q6ISS9	Missense_Mutation	SNP	ENST00000319294.6	37	CCDS13687.1	.	.	.	.	.	.	.	.	.	.	C	0.100	-1.153744	0.01700	.	.	ENSG00000160185	ENST00000291535;ENST00000319294	T;T	0.07216	3.21;3.21	4.92	4.04	0.47022	.	0.109437	0.40728	N	0.001033	T	0.02970	0.0088	N	0.02721	-0.515	0.80722	D	1	B;B	0.21147	0.028;0.052	B;B	0.11329	0.006;0.002	T	0.37776	-0.9691	10	0.07644	T	0.81	-22.6586	9.0985	0.36653	0.0:0.8986:0.0:0.1014	.	573;611	P57075-2;P57075	.;UBS3A_HUMAN	V	573;611	ENSP00000291535:A573V;ENSP00000317327:A611V	ENSP00000291535:A573V	A	+	2	0	UBASH3A	42737806	1.000000	0.71417	0.965000	0.40720	0.102000	0.19082	1.089000	0.30890	1.077000	0.40990	0.551000	0.68910	GCC	.		0.567	UBASH3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195382.1	NM_001001895	
DNMT3L	29947	broad.mit.edu;ucsc.edu;bcgsc.ca	37	21	45666373	45666373	+	Silent	SNP	C	C	T	rs145238695	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr21:45666373C>T	ENST00000418993.1	-	12	1551	c.1068G>A	c.(1066-1068)gcG>gcA	p.A356A	DNMT3L_ENST00000270172.3_Silent_p.A357A	NM_175867.2	NP_787063.1	Q9UJW3	DNM3L_HUMAN	DNA (cytosine-5-)-methyltransferase 3-like	356					chorionic trophoblast cell differentiation (GO:0060718)|DNA methylation (GO:0006306)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|placenta development (GO:0001890)|positive regulation of catalytic activity (GO:0043085)|regulation of gene expression by genetic imprinting (GO:0006349)|spermatogenesis (GO:0007283)	condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		GCCACTTGGCCGCGAGCTTCG	0.507																																					p.A357A		.											.	DNMT3L-228	0			c.G1071A						.	C	,	0,4406		0,0,2203	50.0	51.0	51.0		1071,1068	-3.9	0.0	21	dbSNP_134	51	14,8584	9.8+/-36.6	0,14,4285	no	coding-synonymous,coding-synonymous	DNMT3L	NM_013369.2,NM_175867.1	,	0,14,6488	TT,TC,CC		0.1628,0.0,0.1077	,	357/388,356/387	45666373	14,12990	2203	4299	6502	SO:0001819	synonymous_variant	29947	exon12			CTTGGCCGCGAGC	AF194032	CCDS13705.1	21q22.3	2008-07-31			ENSG00000142182	ENSG00000142182			2980	protein-coding gene	gene with protein product	"""cytosine-5-methyltransferase 3-like protein"", ""human cytosine-5-methyltransferase 3-like protein"""	606588				10857753	Standard	NM_013369		Approved	MGC1090	uc002zeh.2	Q9UJW3	OTTHUMG00000086914	ENST00000418993.1:c.1068G>A	21.37:g.45666373C>T		107	2		133	67	NM_013369	0	0	0	0	0	E9PB42|Q9BUJ4	Silent	SNP	ENST00000418993.1	37	CCDS46650.1	.	.	.	.	.	.	.	.	.	.	C	4.697	0.129624	0.08981	0.0	0.001628	ENSG00000142182	ENST00000436357	.	.	.	4.17	-3.86	0.04230	.	.	.	.	.	T	0.27419	0.0673	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.33137	-0.9880	4	.	.	.	-1.353	6.4551	0.21926	0.6391:0.1568:0.2041:0.0	.	.	.	.	Q	151	.	.	R	-	2	0	DNMT3L	44490801	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.701000	0.01903	-0.665000	0.05317	-0.147000	0.13772	CGG	C|0.998;T|0.002		0.507	DNMT3L-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000195820.1	NM_013369	
PFKL	5211	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	21	45744513	45744513	+	Missense_Mutation	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr21:45744513A>G	ENST00000349048.4	+	17	1845	c.1790A>G	c.(1789-1791)gAc>gGc	p.D597G	PFKL_ENST00000403390.1_Missense_Mutation_p.D644G	NM_002626.4	NP_002617.3	P17858	PFKAL_HUMAN	phosphofructokinase, liver	597	C-terminal regulatory PFK domain 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of insulin secretion (GO:0046676)|protein homotetramerization (GO:0051289)|protein oligomerization (GO:0051259)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|fructose-6-phosphate binding (GO:0070095)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		GTCTTCGAGGACCCTTTCAAC	0.657																																					p.D597G		.											.	PFKL-251	0			c.A1790G						.						67.0	64.0	65.0					21																	45744513		2202	4300	6502	SO:0001583	missense	5211	exon17			TCGAGGACCCTTT		CCDS33582.1	21q22.3	1992-12-17			ENSG00000141959	ENSG00000141959	2.7.1.11		8876	protein-coding gene	gene with protein product		171860					Standard	NR_024108		Approved		uc002zel.3	P17858	OTTHUMG00000086910	ENST00000349048.4:c.1790A>G	21.37:g.45744513A>G	ENSP00000269848:p.Asp597Gly	80	0		124	53	NM_002626	0	0	112	184	72	Q96A64|Q96IH4|Q9BR91	Missense_Mutation	SNP	ENST00000349048.4	37	CCDS33582.1	.	.	.	.	.	.	.	.	.	.	A	16.76	3.211101	0.58343	.	.	ENSG00000141959	ENST00000349048;ENST00000534847;ENST00000403390	T;T	0.80304	-1.36;-1.36	4.1	4.1	0.47936	Phosphofructokinase domain (2);	0.060853	0.64402	D	0.000003	D	0.85283	0.5661	M	0.70595	2.14	0.80722	D	1	P;P	0.41131	0.464;0.739	B;P	0.52386	0.262;0.697	D	0.86776	0.1976	10	0.87932	D	0	-55.3816	12.1046	0.53805	1.0:0.0:0.0:0.0	.	597;644	P17858;P17858-2	K6PL_HUMAN;.	G	597;390;644	ENSP00000269848:D597G;ENSP00000384038:D644G	ENSP00000269848:D597G	D	+	2	0	PFKL	44568941	1.000000	0.71417	1.000000	0.80357	0.140000	0.21249	8.826000	0.92034	1.511000	0.48818	0.383000	0.25322	GAC	.		0.657	PFKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195805.1		
KRTAP10-2	386679	hgsc.bcm.edu;ucsc.edu	37	21	45970774	45970774	+	Missense_Mutation	SNP	G	G	A	rs76536096|rs67692969|rs71199610	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr21:45970774G>A	ENST00000391621.1	-	1	614	c.568C>T	c.(568-570)Cct>Tct	p.P190S	TSPEAR_ENST00000323084.4_Intron|KRTAP10-2_ENST00000498210.1_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN	keratin associated protein 10-2	190	22 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				large_intestine(1)|lung(4)|skin(1)	6						CAGCAGACAGGCTTGCAGCAG	0.607																																					p.P190S		.											.	KRTAP10-2-135	0			c.C568T						.						110.0	112.0	111.0					21																	45970774		2192	4279	6471	SO:0001583	missense	386679	exon1			AGACAGGCTTGCA	AJ566381	CCDS42955.1	21q22.3	2007-10-05			ENSG00000205445	ENSG00000205445		"""Keratin associated proteins"""	22967	protein-coding gene	gene with protein product				KRTAP18-2			Standard	NM_198693		Approved	KAP10.2, KAP18.2	uc002zfi.1	P60368	OTTHUMG00000057625	ENST00000391621.1:c.568C>T	21.37:g.45970774G>A	ENSP00000375479:p.Pro190Ser	214	0		210	32	NM_198693	0	0	0	0	0	Q70LJ5	Missense_Mutation	SNP	ENST00000391621.1	37	CCDS42955.1	.	.	.	.	.	.	.	.	.	.	g	9.523	1.108901	0.20714	.	.	ENSG00000205445	ENST00000391621	T	0.01705	4.68	3.28	0.222	0.15288	.	.	.	.	.	T	0.02083	0.0065	L	0.49455	1.56	0.09310	N	1	B	0.26672	0.156	B	0.24394	0.053	T	0.42310	-0.9459	9	0.62326	D	0.03	.	4.9369	0.13944	0.2108:0.1755:0.6137:0.0	.	190	P60368	KR102_HUMAN	S	190	ENSP00000375479:P190S	ENSP00000375479:P190S	P	-	1	0	KRTAP10-2	44795202	0.105000	0.21958	0.000000	0.03702	0.002000	0.02628	1.284000	0.33249	-0.177000	0.10690	0.462000	0.41574	CCT	G|0.917;A|0.083		0.607	KRTAP10-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128027.1		
KRTAP10-2	386679	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	21	45971060	45971060	+	Frame_Shift_Del	DEL	G	G	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr21:45971060delG	ENST00000391621.1	-	1	328	c.282delC	c.(280-282)cccfs	p.P94fs	TSPEAR_ENST00000323084.4_Intron|KRTAP10-2_ENST00000498210.1_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN	keratin associated protein 10-2	94	22 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				large_intestine(1)|lung(4)|skin(1)	6						CCTGCTGGCAGGGGGAGGAGG	0.672																																					p.P94fs		.											.	KRTAP10-2-135	0			c.282delC						.						67.0	71.0	69.0					21																	45971060		2200	4296	6496	SO:0001589	frameshift_variant	386679	exon1			CTGGCAGGGGGAG	AJ566381	CCDS42955.1	21q22.3	2007-10-05			ENSG00000205445	ENSG00000205445		"""Keratin associated proteins"""	22967	protein-coding gene	gene with protein product				KRTAP18-2			Standard	NM_198693		Approved	KAP10.2, KAP18.2	uc002zfi.1	P60368	OTTHUMG00000057625	ENST00000391621.1:c.282delC	21.37:g.45971060delG	ENSP00000375479:p.Pro94fs	112	0		268	86	NM_198693	0	0	0	0	0	Q70LJ5	Frame_Shift_Del	DEL	ENST00000391621.1	37	CCDS42955.1																																																																																			.		0.672	KRTAP10-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128027.1		
KRTAP10-4	386672	broad.mit.edu;ucsc.edu;bcgsc.ca	37	21	45994477	45994477	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr21:45994477G>A	ENST00000400374.3	+	1	872	c.842G>A	c.(841-843)tGc>tAc	p.C281Y	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_5'Flank	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN	keratin associated protein 10-4	281	36 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						CCTGTGTGCTGCAAGCCTGTC	0.627																																					p.C281Y		.											.	KRTAP10-4-90	0			c.G842A						.						107.0	112.0	110.0					21																	45994477		2203	4300	6503	SO:0001583	missense	386672	exon1			TGTGCTGCAAGCC	AB076351	CCDS42957.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000215454	ENSG00000215454		"""Keratin associated proteins"""	20521	protein-coding gene	gene with protein product			"""keratin associated protein 18-4"""	KRTAP18-4			Standard	NM_198687		Approved	KRTAP18.4, KAP10.4	uc002zfk.1	P60372	OTTHUMG00000057641	ENST00000400374.3:c.842G>A	21.37:g.45994477G>A	ENSP00000383225:p.Cys281Tyr	186	1		226	103	NM_198687	0	0	0	0	0	Q08AS0	Missense_Mutation	SNP	ENST00000400374.3	37	CCDS42957.1	.	.	.	.	.	.	.	.	.	.	g	4.701	0.130349	0.08981	.	.	ENSG00000215454	ENST00000400374;ENST00000334871	T	0.02472	4.28	3.73	2.83	0.33086	.	.	.	.	.	T	0.08582	0.0213	M	0.86651	2.83	0.29317	N	0.867589	P	0.50369	0.934	P	0.47864	0.559	T	0.07809	-1.0753	9	0.72032	D	0.01	.	6.5354	0.22350	0.0:0.2197:0.5841:0.1962	.	281	P60372	KR104_HUMAN	Y	281;109	ENSP00000383225:C281Y	ENSP00000333987:C109Y	C	+	2	0	KRTAP10-4	44818905	0.354000	0.24912	0.073000	0.20177	0.213000	0.24496	1.071000	0.30666	0.658000	0.30925	0.603000	0.83216	TGC	.		0.627	KRTAP10-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128045.1	NM_198687	
KRTAP10-7	386675	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	21	46020976	46020976	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr21:46020976C>T	ENST00000380102.2	+	1	480	c.455C>T	c.(454-456)aCc>aTc	p.T152I	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	152	30 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						GCTTGCTGCACCTCCTCCCCC	0.592																																					p.T147I		.											.	.	0			c.C440T						.						64.0	69.0	68.0					21																	46020976		2193	4290	6483	SO:0001583	missense	386675	exon2			GCTGCACCTCCTC	AJ566385	CCDS74803.1	21q22.3	2014-04-10			ENSG00000205441	ENSG00000272804		"""Keratin associated proteins"""	22970	protein-coding gene	gene with protein product				KRTAP18-7			Standard	NM_198689		Approved	KAP10.7, KAP18.7	uc002zfn.4	P60409	OTTHUMG00000188307	ENST00000380102.2:c.455C>T	21.37:g.46020976C>T	ENSP00000369445:p.Thr152Ile	428	1		439	170	NM_198689	0	0	0	0	0	Q0VDJ8|Q70LJ2	Missense_Mutation	SNP	ENST00000380102.2	37		.	.	.	.	.	.	.	.	.	.	N	0.867	-0.733395	0.03111	.	.	ENSG00000205441	ENST00000380102	T	0.01388	4.95	2.74	-0.798	0.10905	.	.	.	.	.	T	0.01523	0.0049	L	0.55481	1.735	0.09310	N	1	B	0.13145	0.007	B	0.14023	0.01	T	0.47886	-0.9082	9	0.37606	T	0.19	.	0.862	0.01195	0.1794:0.3833:0.1775:0.2598	.	147	P60409-2	.	I	152	ENSP00000369445:T152I	ENSP00000369445:T152I	T	+	2	0	KRTAP10-7	44845404	0.000000	0.05858	0.000000	0.03702	0.142000	0.21351	-0.513000	0.06305	-0.163000	0.10946	0.454000	0.30748	ACC	.		0.592	KRTAP10-7-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000128038.1	NM_198689	
KRTAP10-9	386676	broad.mit.edu;ucsc.edu;bcgsc.ca	37	21	46047555	46047555	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr21:46047555C>T	ENST00000397911.3	+	1	516	c.467C>T	c.(466-468)tCt>tTt	p.S156F	KRTAP10-9_ENST00000484861.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198690.2	NP_941963.2	P60411	KR109_HUMAN	keratin associated protein 10-9	156	25 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						CCCACCTGCTCTGAGGATTCC	0.602																																					p.S156F		.											.	.	0			c.C467T						.						194.0	204.0	200.0					21																	46047555		2203	4300	6503	SO:0001583	missense	386676	exon1			CCTGCTCTGAGGA	AJ566386	CCDS42961.1	21q22.3	2007-10-05			ENSG00000221837	ENSG00000221837		"""Keratin associated proteins"""	22971	protein-coding gene	gene with protein product				KRTAP18-9			Standard	NM_198690		Approved	KAP10.9, KAP18.9	uc002zfp.4	P60411	OTTHUMG00000057637	ENST00000397911.3:c.467C>T	21.37:g.46047555C>T	ENSP00000381009:p.Ser156Phe	321	2		341	165	NM_198690	0	0	0	0	0	A2RRG1|A6NIR9|Q70LJ1	Missense_Mutation	SNP	ENST00000397911.3	37	CCDS42961.1	.	.	.	.	.	.	.	.	.	.	g	2.879	-0.232158	0.05983	.	.	ENSG00000221837	ENST00000397911	T	0.01516	4.81	2.68	-1.48	0.08745	.	.	.	.	.	T	0.02455	0.0075	M	0.77820	2.39	0.09310	N	1	B	0.33266	0.404	B	0.23852	0.049	T	0.32534	-0.9903	8	.	.	.	.	6.9131	0.24346	0.1783:0.3006:0.521:0.0	.	156	P60411	KR109_HUMAN	F	156	ENSP00000381009:S156F	.	S	+	2	0	KRTAP10-9	44871983	0.005000	0.15991	0.002000	0.10522	0.001000	0.01503	-0.005000	0.12855	-0.147000	0.11254	0.543000	0.68304	TCT	.		0.602	KRTAP10-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128040.1		
POFUT2	23275	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	21	46689778	46689778	+	Missense_Mutation	SNP	C	C	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr21:46689778C>A	ENST00000349485.5	-	7	1014	c.988G>T	c.(988-990)Gtg>Ttg	p.V330L	POFUT2_ENST00000331343.7_Missense_Mutation_p.V330L|POFUT2_ENST00000471540.1_5'UTR	NM_133635.4	NP_598368.2	Q9Y2G5	OFUT2_HUMAN	protein O-fucosyltransferase 2	330					fucose metabolic process (GO:0006004)|mesoderm formation (GO:0001707)|protein O-linked fucosylation (GO:0036066)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of gene expression (GO:0010468)|regulation of secretion (GO:0051046)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	peptide-O-fucosyltransferase activity (GO:0046922)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	20				Colorectal(79;0.243)		TCTGTGGCCACAAACACCTTG	0.458																																					p.V330L		.											.	POFUT2-90	0			c.G988T						.						83.0	77.0	79.0					21																	46689778		2203	4300	6503	SO:0001583	missense	23275	exon7			TGGCCACAAACAC	AJ203079	CCDS13719.1, CCDS13721.1	21q22.3	2013-03-06	2004-06-07	2004-06-09	ENSG00000186866	ENSG00000186866	2.4.1.221	"""Fucosyltransferases"""	14683	protein-coding gene	gene with protein product	"""peptide-O-fucosyltransferase"", ""GDP-fucose protein O-fucosyltransferase 2"""	610249	"""chromosome 21 open reading frame 80"""	C21orf80			Standard	NM_133635		Approved	KIAA0958, FUT13	uc002zhc.3	Q9Y2G5	OTTHUMG00000084874	ENST00000349485.5:c.988G>T	21.37:g.46689778C>A	ENSP00000339613:p.Val330Leu	95	0		97	35	NM_015227	0	0	26	54	28	Q6PJV1|Q7Z4N0|Q8WWU6|Q9BQS4|Q9BQS5|Q9UFY3	Missense_Mutation	SNP	ENST00000349485.5	37	CCDS13719.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.50|11.50	1.656182|1.656182	0.29425|0.29425	.|.	.|.	ENSG00000186866|ENSG00000186866	ENST00000451615|ENST00000331343;ENST00000349485	.|T;T	.|0.32023	.|1.47;1.47	4.35|4.35	4.35|4.35	0.52113|0.52113	.|.	.|0.180614	.|0.47093	.|D	.|0.000260	T|T	0.21307|0.21307	0.0513|0.0513	L|L	0.28504|0.28504	0.86|0.86	0.52099|0.52099	D|D	0.999949|0.999949	.|B;B	.|0.24043	.|0.096;0.014	.|B;B	.|0.24006	.|0.05;0.019	T|T	0.03887|0.03887	-1.0995|-1.0995	5|10	.|0.08381	.|T	.|0.77	-10.5471|-10.5471	14.743|14.743	0.69469|0.69469	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|330;330	.|Q9Y2G5-1;Q9Y2G5	.|.;OFUT2_HUMAN	F|L	252|330	.|ENSP00000329682:V330L;ENSP00000339613:V330L	.|ENSP00000329682:V330L	C|V	-|-	2|1	0|0	POFUT2|POFUT2	45514206|45514206	0.960000|0.960000	0.32886|0.32886	0.999000|0.999000	0.59377|0.59377	0.981000|0.981000	0.71138|0.71138	1.233000|1.233000	0.32648|0.32648	2.144000|2.144000	0.66660|0.66660	0.655000|0.655000	0.94253|0.94253	TGT|GTG	.		0.458	POFUT2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192573.2	NM_015227	
PCBP3	54039	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	21	47321002	47321002	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr21:47321002C>T	ENST00000400314.1	+	7	652	c.314C>T	c.(313-315)gCc>gTc	p.A105V	PCBP3_ENST00000449640.1_Missense_Mutation_p.A105V|PCBP3_ENST00000400309.1_Missense_Mutation_p.A105V|PCBP3_ENST00000400308.1_Missense_Mutation_p.A105V|PCBP3_ENST00000400304.1_Missense_Mutation_p.A73V|PCBP3_ENST00000400310.1_Missense_Mutation_p.A105V			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	105					mRNA metabolic process (GO:0016071)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		AAGGCCTTTGCCATGATCGCA	0.592																																					p.A105V		.											.	PCBP3-227	0			c.C314T						.						118.0	128.0	125.0					21																	47321002		2035	4174	6209	SO:0001583	missense	54039	exon5			CCTTTGCCATGAT	AF176329	CCDS42974.2, CCDS46652.1	21q22.3	2013-07-16	2001-11-28		ENSG00000183570	ENSG00000183570			8651	protein-coding gene	gene with protein product		608502	"""poly(rC)-binding protein 3"""			10936052	Standard	NM_020528		Approved		uc002zhq.2	P57721	OTTHUMG00000090399	ENST00000400314.1:c.314C>T	21.37:g.47321002C>T	ENSP00000383168:p.Ala105Val	60	0		75	28	NM_001130141	0	0	1	3	2	A8MPS2|A8MQ26|B7WNN9|B7WPC1|Q8N9K6|Q96EP6	Missense_Mutation	SNP	ENST00000400314.1	37	CCDS42974.2	.	.	.	.	.	.	.	.	.	.	C	24.4	4.530863	0.85706	.	.	ENSG00000183570	ENST00000400314;ENST00000400310;ENST00000400309;ENST00000400308;ENST00000449640;ENST00000346743;ENST00000400305;ENST00000400304	T;T;T;T;T;T;T	0.33216	1.42;1.42;1.42;1.42;1.42;1.42;1.42	4.86	4.86	0.63082	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.46073	0.1374	L	0.54908	1.71	0.80722	D	1	B;B;P;P;B;D;B	0.53462	0.14;0.115;0.928;0.951;0.06;0.96;0.066	B;B;P;P;B;P;B	0.54664	0.156;0.038;0.68;0.712;0.038;0.758;0.026	T	0.45600	-0.9250	10	0.62326	D	0.03	-15.7444	18.3744	0.90431	0.0:1.0:0.0:0.0	.	73;105;73;105;105;105;105	Q5MJP6;P57721-3;E9PFP8;P57721-2;P57721-4;P57721;P57721-5	.;.;.;.;.;PCBP3_HUMAN;.	V	105;105;105;105;105;105;81;73	ENSP00000383168:A105V;ENSP00000383165:A105V;ENSP00000383164:A105V;ENSP00000383163:A105V;ENSP00000401198:A105V;ENSP00000383160:A81V;ENSP00000383159:A73V	ENSP00000330225:A105V	A	+	2	0	PCBP3	46145430	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.379000	0.79691	2.444000	0.82710	0.655000	0.94253	GCC	.		0.592	PCBP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206808.2		
PCNT	5116	hgsc.bcm.edu	37	21	47836750	47836750	+	Silent	SNP	T	T	C	rs61738290	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr21:47836750T>C	ENST00000359568.5	+	30	7025	c.6918T>C	c.(6916-6918)gcT>gcC	p.A2306A	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2306					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)					AGAGGACGGCTGTGGTAGGTG	0.667													T|||	114	0.0227636	0.0189	0.0418	5008	,	,		15424	0.0		0.0408	False		,,,				2504	0.0194				p.A2306A		.											.	PCNT-141	0			c.T6918C						.	T		72,3720		0,72,1824	20.0	22.0	21.0		6918	-1.0	0.3	21	dbSNP_129	21	338,7058		7,324,3367	no	coding-synonymous	PCNT	NM_006031.5		7,396,5191	CC,CT,TT		4.57,1.8987,3.6646		2306/3337	47836750	410,10778	1896	3698	5594	SO:0001819	synonymous_variant	5116	exon30			GACGGCTGTGGTA	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.6918T>C	21.37:g.47836750T>C		5	0		17	7	NM_006031	0	0	0	0	0	O43152|Q7Z7C9	Silent	SNP	ENST00000359568.5	37	CCDS33592.1																																																																																			T|0.969;C|0.031		0.667	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031	
PCNT	5116	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	21	47858133	47858133	+	Silent	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr21:47858133T>C	ENST00000359568.5	+	41	9263	c.9156T>C	c.(9154-9156)aaT>aaC	p.N3052N	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	3052	Interaction with NEK2.				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)					TGAAAGACAATGTTTCCCTCA	0.458																																					p.N3052N		.											.	PCNT-141	0			c.T9156C						.						62.0	58.0	59.0					21																	47858133		2203	4300	6503	SO:0001819	synonymous_variant	5116	exon41			AGACAATGTTTCC	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.9156T>C	21.37:g.47858133T>C		220	1		292	112	NM_006031	0	0	8	30	22	O43152|Q7Z7C9	Silent	SNP	ENST00000359568.5	37	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	T	0.246	-1.009737	0.02095	.	.	ENSG00000160299	ENST00000418394	.	.	.	5.38	-10.8	0.00216	.	.	.	.	.	T	0.64735	0.2625	.	.	.	0.47511	D	0.999447	.	.	.	.	.	.	T	0.77151	-0.2693	4	.	.	.	.	19.5563	0.95349	0.0:0.7248:0.0:0.2752	.	.	.	.	T	33	.	.	M	+	2	0	PCNT	46682561	0.000000	0.05858	0.002000	0.10522	0.126000	0.20510	-2.794000	0.00765	-2.500000	0.00511	-1.151000	0.01829	ATG	.		0.458	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031	
CCT8L2	150160	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	22	17073304	17073304	+	Missense_Mutation	SNP	A	A	G	rs140831516		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr22:17073304A>G	ENST00000359963.3	-	1	396	c.137T>C	c.(136-138)gTc>gCc	p.V46A		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	46					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				AGGCCGGATGACACTGGCCAG	0.642																																					p.V46A		.											.	CCT8L2-69	0			c.T137C						.						65.0	68.0	67.0					22																	17073304		2203	4300	6503	SO:0001583	missense	150160	exon1			CGGATGACACTGG	AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.137T>C	22.37:g.17073304A>G	ENSP00000353048:p.Val46Ala	61	0		80	30	NM_014406	0	0	0	0	0	A4QPH3|Q9UJS3	Missense_Mutation	SNP	ENST00000359963.3	37	CCDS13738.1	.	.	.	.	.	.	.	.	.	.	a	14.71	2.615412	0.46631	.	.	ENSG00000198445	ENST00000359963	T	0.77098	-1.07	2.0	2.0	0.26442	.	0.868158	0.09444	U	0.801420	T	0.70413	0.3221	L	0.53249	1.67	0.09310	N	1	B	0.20164	0.042	B	0.24006	0.05	T	0.57148	-0.7861	10	0.30854	T	0.27	-12.4296	5.9541	0.19263	1.0:0.0:0.0:0.0	.	46	Q96SF2	TCPQM_HUMAN	A	46	ENSP00000353048:V46A	ENSP00000353048:V46A	V	-	2	0	CCT8L2	15453304	0.811000	0.29063	0.278000	0.24718	0.851000	0.48451	1.725000	0.38074	0.930000	0.37217	0.324000	0.21423	GTC	A|1.000;T|0.000		0.642	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1		
GAB4	128954	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	22	17472963	17472963	+	Missense_Mutation	SNP	G	G	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr22:17472963G>T	ENST00000400588.1	-	2	385	c.278C>A	c.(277-279)aCc>aAc	p.T93N	GAB4_ENST00000523144.1_5'UTR	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	93	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.									breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				CAGGTTGATGGTGCGCAGGGG	0.493																																					p.T93N		.											.	GAB4-91	0			c.C278A						.						215.0	226.0	222.0					22																	17472963		2195	4300	6495	SO:0001583	missense	128954	exon2			TTGATGGTGCGCA	AK057252	CCDS42976.1	22q11.2	2013-01-10			ENSG00000215568	ENSG00000215568		"""Pleckstrin homology (PH) domain containing"""	18325	protein-coding gene	gene with protein product							Standard	NM_001037814		Approved		uc002zlw.3	Q2WGN9	OTTHUMG00000149992	ENST00000400588.1:c.278C>A	22.37:g.17472963G>T	ENSP00000383431:p.Thr93Asn	169	0		186	80	NM_001037814	0	0	0	0	0		Missense_Mutation	SNP	ENST00000400588.1	37	CCDS42976.1	.	.	.	.	.	.	.	.	.	.	G	9.258	1.042383	0.19748	.	.	ENSG00000215568	ENST00000400588	T	0.75938	-0.98	1.81	0.736	0.18307	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.238534	0.33631	U	0.004709	T	0.64338	0.2589	L	0.49126	1.545	0.27993	N	0.935605	P	0.49559	0.925	B	0.43680	0.427	T	0.60378	-0.7275	10	0.62326	D	0.03	.	4.7231	0.12927	0.7985:0.0:0.2015:0.0	.	93	Q2WGN9	GAB4_HUMAN	N	93	ENSP00000383431:T93N	ENSP00000383431:T93N	T	-	2	0	GAB4	15852963	1.000000	0.71417	0.966000	0.40874	0.022000	0.10575	6.465000	0.73538	0.160000	0.19432	-0.469000	0.05056	ACC	.		0.493	GAB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315426.1	XM_372882	
IL17RA	23765	hgsc.bcm.edu	37	22	17590180	17590180	+	Missense_Mutation	SNP	G	G	A	rs41323645	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr22:17590180G>A	ENST00000319363.6	+	13	2204	c.2071G>A	c.(2071-2073)Gca>Aca	p.A691T		NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	691					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|fibroblast activation (GO:0072537)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of interleukin-23 production (GO:0032747)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	interleukin-17 receptor activity (GO:0030368)			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		TGACGGTGCCGCAGTCCGGCT	0.766													G|||	570	0.113818	0.2352	0.0778	5008	,	,		11920	0.0		0.1064	False		,,,				2504	0.1002				p.A691T		.											.	IL17RA-92	0			c.G2071A						.	G	THR/ALA	684,3102		61,562,1270	3.0	4.0	4.0		2071	3.6	0.0	22	dbSNP_127	4	730,6516		42,646,2935	no	missense	IL17RA	NM_014339.5	58	103,1208,4205	AA,AG,GG		10.0745,18.0666,12.8173	probably-damaging	691/867	17590180	1414,9618	1893	3623	5516	SO:0001583	missense	23765	exon13			GGTGCCGCAGTCC	U58917	CCDS13739.1	22q11.1	2014-09-17	2006-04-26	2006-04-26	ENSG00000177663	ENSG00000177663		"""Interleukins and interleukin receptors"", ""CD molecules"""	5985	protein-coding gene	gene with protein product		605461	"""interleukin 17 receptor"""	IL17R		9367539, 10591208	Standard	NM_014339		Approved	hIL-17R, IL-17RA, CDw217, CD217	uc002zly.4	Q96F46	OTTHUMG00000150026	ENST00000319363.6:c.2071G>A	22.37:g.17590180G>A	ENSP00000320936:p.Ala691Thr	0	0		11	8	NM_014339	0	0	1	2	1	O43844|Q20WK1	Missense_Mutation	SNP	ENST00000319363.6	37	CCDS13739.1	225	0.10302197802197802	106	0.21544715447154472	39	0.10773480662983426	0	0.0	80	0.10554089709762533	G	17.37	3.372199	0.61624	0.180666	0.100745	ENSG00000177663	ENST00000425985;ENST00000319363	T	0.06687	3.27	4.6	3.56	0.40772	.	0.358898	0.24384	N	0.038991	T	0.00012	0.0000	M	0.70595	2.14	0.80722	P	0.0	D;D	0.89917	0.996;1.0	P;D	0.64506	0.715;0.926	T	0.14952	-1.0454	9	0.36615	T	0.2	-30.1852	7.7218	0.28736	0.099:0.223:0.678:0.0	rs41323645;rs58353000	639;691	D3YTB4;Q96F46	.;I17RA_HUMAN	T	639;691	ENSP00000320936:A691T	ENSP00000320936:A691T	A	+	1	0	IL17RA	15970180	0.004000	0.15560	0.046000	0.18839	0.001000	0.01503	1.290000	0.33319	2.261000	0.74972	0.561000	0.74099	GCA	G|0.897;A|0.103		0.766	IL17RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315820.1	NM_014339	
MICAL3	57553	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	22	18301894	18301894	+	Splice_Site	SNP	C	C	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr22:18301894C>A	ENST00000441493.2	-	26	3885	c.3533G>T	c.(3532-3534)gGg>gTg	p.G1178V		NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1178	Pro-rich.				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)		GAGTTGGGGCCCCTACAGGGA	0.597																																					p.G1178V		.											.	MICAL3-68	0			c.G3533T						.						13.0	15.0	14.0					22																	18301894		1932	4098	6030	SO:0001630	splice_region_variant	57553	exon26			TGGGGCCCCTACA	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.3532-1G>T	22.37:g.18301894C>A		40	0		57	27	NM_015241	0	0	0	0	0	B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Missense_Mutation	SNP	ENST00000441493.2	37	CCDS46659.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.644|6.644	0.487232|0.487232	0.12641|0.12641	.|.	.|.	ENSG00000093100|ENSG00000093100	ENST00000252134|ENST00000441493	.|T	.|0.61859	.|0.07	4.87|4.87	1.3|1.3	0.21679|0.21679	.|.	.|.	.|.	.|.	.|.	T|T	0.42517|0.42517	0.1206|0.1206	L|L	0.44542|0.44542	1.39|1.39	0.22017|0.22017	N|N	0.999417|0.999417	.|B	.|0.06786	.|0.001	.|B	.|0.04013	.|0.001	T|T	0.30995|0.30995	-0.9959|-0.9959	6|9	0.56958|0.38643	D|T	0.05|0.18	.|.	2.2962|2.2962	0.04151|0.04151	0.4172:0.2772:0.0:0.3056|0.4172:0.2772:0.0:0.3056	.|.	.|1178	.|Q7RTP6	.|MICA3_HUMAN	C|V	160|1178	.|ENSP00000416015:G1178V	ENSP00000252134:G160C|ENSP00000416015:G1178V	G|G	-|-	1|2	0|0	XXbac-B461K10.4|XXbac-B461K10.4	16681894|16681894	0.000000|0.000000	0.05858|0.05858	0.039000|0.039000	0.18376|0.18376	0.007000|0.007000	0.05969|0.05969	-0.844000|-0.844000	0.04345|0.04345	0.470000|0.470000	0.27294|0.27294	-0.217000|-0.217000	0.12591|0.12591	GGC|GGG	.		0.597	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1		Missense_Mutation
TUBA8	51807	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	22	18609562	18609562	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr22:18609562G>A	ENST00000330423.3	+	4	890	c.817G>A	c.(817-819)Gcg>Acg	p.A273T	TUBA8_ENST00000316027.6_Missense_Mutation_p.A207T	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	273					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						GGTCACCTACGCGCCCATCAT	0.587																																					p.A273T		.											.	TUBA8-90	0			c.G817A						.						103.0	84.0	91.0					22																	18609562		2203	4300	6503	SO:0001583	missense	51807	exon4			ACCTACGCGCCCA	AJ245922	CCDS13751.1, CCDS54495.1	22q11	2005-06-11			ENSG00000183785	ENSG00000183785		"""Tubulins"""	12410	protein-coding gene	gene with protein product		605742		TUBAL2		10772959, 10591208	Standard	NM_001193414		Approved		uc002znv.2	Q9NY65	OTTHUMG00000150097	ENST00000330423.3:c.817G>A	22.37:g.18609562G>A	ENSP00000333326:p.Ala273Thr	171	0		260	20	NM_018943	0	0	10	10	0	B2RCX2|B3KPW9|B4DWG3|Q2M3N4	Missense_Mutation	SNP	ENST00000330423.3	37	CCDS13751.1	.	.	.	.	.	.	.	.	.	.	.	18.53	3.643771	0.67244	.	.	ENSG00000183785	ENST00000316027;ENST00000330423;ENST00000416740	D;D;D	0.82984	-1.67;-1.67;-1.67	5.67	5.67	0.87782	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.051608	0.85682	D	0.000000	D	0.90397	0.6994	M	0.92122	3.275	0.58432	D	0.999997	P;P;B	0.51933	0.88;0.949;0.295	B;P;B	0.48795	0.385;0.59;0.118	D	0.92314	0.5860	10	0.72032	D	0.01	.	19.1191	0.93355	0.0:0.0:1.0:0.0	.	207;297;273	B3KPW9;C9J2C0;Q9NY65	.;.;TBA8_HUMAN	T	207;273;297	ENSP00000318575:A207T;ENSP00000333326:A273T;ENSP00000412646:A297T	ENSP00000318575:A207T	A	+	1	0	TUBA8	16989562	1.000000	0.71417	0.823000	0.32752	0.995000	0.86356	7.894000	0.87336	2.837000	0.97791	0.655000	0.94253	GCG	.		0.587	TUBA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316232.3	NM_018943	
CLTCL1	8218	broad.mit.edu;ucsc.edu;bcgsc.ca	37	22	19207427	19207427	+	Silent	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr22:19207427C>T	ENST00000263200.10	-	18	2958	c.2886G>A	c.(2884-2886)gaG>gaA	p.E962E	CLTCL1_ENST00000427926.1_Silent_p.E962E|CLTCL1_ENST00000353891.5_Silent_p.E962E	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	962	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					ATGGGTTGGTCTCCTCAAGGA	0.527			T	?	ALCL																																p.E962E		.		Dom	yes		22	22q11.21	8218	"""clathrin, heavy polypeptide-like 1"""		L	.	CLTCL1-230	0			c.G2886A						.						115.0	119.0	118.0					22																	19207427		2059	4199	6258	SO:0001819	synonymous_variant	8218	exon18			GTTGGTCTCCTCA		CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"""clathrin, heavy polypeptide-like 1"""	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.2886G>A	22.37:g.19207427C>T		122	2		184	74	NM_001835	0	0	19	29	10	B7Z7U5|Q14017|Q15808|Q15809	Silent	SNP	ENST00000263200.10	37	CCDS46662.1																																																																																			.		0.527	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098	
HIRA	7290	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	22	19373067	19373067	+	Frame_Shift_Del	DEL	C	C	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr22:19373067delC	ENST00000263208.5	-	12	1562	c.1306delG	c.(1306-1308)gagfs	p.E436fs	HIRA_ENST00000541063.1_Frame_Shift_Del_p.E392fs|HIRA_ENST00000340170.4_Frame_Shift_Del_p.E436fs|HIRA_ENST00000546308.1_Frame_Shift_Del_p.E392fs	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	436	Interaction with ASF1A.|Interaction with CCNA1.				anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|gastrulation (GO:0007369)|muscle cell differentiation (GO:0042692)|osteoblast differentiation (GO:0001649)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					TCAAGACTCTCCCCGTTGACA	0.602																																					p.E436fs		.											.	HIRA-91	0			c.1306delG						.						87.0	79.0	82.0					22																	19373067		2203	4300	6503	SO:0001589	frameshift_variant	7290	exon12			GACTCTCCCCGTT	X75296	CCDS13759.1	22q11.2	2013-05-03	2013-05-03		ENSG00000100084	ENSG00000100084		"""WD repeat domain containing"""	4916	protein-coding gene	gene with protein product	"""DiGeorge critical region gene 1"""	600237	"""HIR (histone cell cycle regulation defective) homolog A (S. cerevisiae)"", ""HIR histone cell cycle regulation defective homolog A (S. cerevisiae)"""	TUPLE1		8111380, 7633437, 9731536	Standard	NM_003325		Approved	DGCR1, TUP1	uc002zpf.1	P54198	OTTHUMG00000150134	ENST00000263208.5:c.1306delG	22.37:g.19373067delC	ENSP00000263208:p.Glu436fs	123	0		146	60	NM_003325	0	0	0	0	0	Q05BU9|Q8IXN2	Frame_Shift_Del	DEL	ENST00000263208.5	37	CCDS13759.1																																																																																			.		0.602	HIRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316488.2	NM_003325	
TRMT2A	27037	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	22	20100332	20100332	+	Intron	DEL	G	G	-	rs34592023		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr22:20100332delG	ENST00000252136.7	-	12	2035				TRMT2A_ENST00000439169.2_Intron|TRMT2A_ENST00000403707.3_Intron|TRMT2A_ENST00000492988.1_5'Flank|AC006547.8_ENST00000412713.1_RNA|TRMT2A_ENST00000404751.3_Frame_Shift_Del_p.L552fs	NM_001257994.1|NM_022727.5|NM_182984.4	NP_001244923.1|NP_073564.3|NP_892029.2	Q8IZ69	TRM2A_HUMAN	tRNA methyltransferase 2 homolog A (S. cerevisiae)						RNA processing (GO:0006396)		nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA methyltransferase activity (GO:0008173)			breast(2)|endometrium(2)|lung(5)	9						GGGGGGAAAAGGGGGGCGCTA	0.657																																					p.L552fs		.											.	TRMT2A-153	0			c.1654delC						.						18.0	23.0	21.0					22																	20100332		2192	4294	6486	SO:0001627	intron_variant	27037	exon12			GGAAAAGGGGGGC	BC017184	CCDS13774.1, CCDS58793.1	22q11.21	2014-02-12	2012-06-12		ENSG00000099899	ENSG00000099899			24974	protein-coding gene	gene with protein product	"""HpaII tiny fragments locus 9C"""	611151				9417108, 18075473	Standard	NM_022727		Approved	HTF9C	uc002zrl.2	Q8IZ69	OTTHUMG00000150454	ENST00000252136.7:c.1647-15C>-	22.37:g.20100332delG		26	0		27	11	NM_001257994	0	0	0	0	0	D3DX25|Q32P57|Q96ME6|Q9H732	Frame_Shift_Del	DEL	ENST00000252136.7	37	CCDS13774.1																																																																																			.		0.657	TRMT2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318168.3	NM_022727	
SCARF2	91179	hgsc.bcm.edu	37	22	20780091	20780091	+	Silent	SNP	C	C	G	rs759610		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr22:20780091C>G	ENST00000266214.5	-	11	2291	c.2187G>C	c.(2185-2187)ccG>ccC	p.P729P	SCARF2_ENST00000405555.3_Silent_p.P724P	NM_153334.4	NP_699165.2	Q96GP6	SREC2_HUMAN	scavenger receptor class F, member 2	729	Pro-rich.				cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			CGGGCAGCCCCGGGGGGCGCG	0.781																																					p.P729P		.											.	SCARF2-341	0			c.G2187C						.	G	,	3110,60		1525,60,0	4.0	5.0	4.0		2187,2172	-6.8	0.1	22	dbSNP_86	4	5974,118		2928,118,0	no	coding-synonymous,coding-synonymous	SCARF2	NM_153334.4,NM_182895.2	,	4453,178,0	GG,GC,CC		1.937,1.8927,1.9218	,	729/871,724/866	20780091	9084,178	1585	3046	4631	SO:0001819	synonymous_variant	91179	exon11			CAGCCCCGGGGGG	AF522196	CCDS13779.1, CCDS46666.1	22q11.21	2011-10-10			ENSG00000244486	ENSG00000244486			19869	protein-coding gene	gene with protein product		613619				12154095	Standard	XM_006724364		Approved	SREC-II, SREC2, HUMZD58C02	uc002zsk.2	Q96GP6	OTTHUMG00000150779	ENST00000266214.5:c.2187G>C	22.37:g.20780091C>G		0	0		13	13	NM_153334	0	0	0	0	0	E5RFB8|Q58A83|Q8IXF3|Q9BW74	Silent	SNP	ENST00000266214.5	37	CCDS13779.1																																																																																			C|0.138;G|0.862		0.781	SCARF2-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320047.1		
SCARF2	91179	hgsc.bcm.edu	37	22	20780097	20780097	+	Silent	SNP	G	G	C	rs759609		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr22:20780097G>C	ENST00000266214.5	-	11	2285	c.2181C>G	c.(2179-2181)cgC>cgG	p.R727R	SCARF2_ENST00000405555.3_Silent_p.R722R	NM_153334.4	NP_699165.2	Q96GP6	SREC2_HUMAN	scavenger receptor class F, member 2	727	Pro-rich.				cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GCCCCGGGGGGCGCGGCGTTG	0.781																																					p.R727R		.											.	SCARF2-341	0			c.C2181G						.	C	,	3271,119		1585,101,9	5.0	5.0	5.0		2181,2166	-5.3	0.0	22	dbSNP_86	5	6306,190		3060,186,2	no	coding-synonymous,coding-synonymous	SCARF2	NM_153334.4,NM_182895.2	,	4645,287,11	CC,CG,GG		2.9249,3.5103,3.1256	,	727/871,722/866	20780097	9577,309	1695	3248	4943	SO:0001819	synonymous_variant	91179	exon11			CGGGGGGCGCGGC	AF522196	CCDS13779.1, CCDS46666.1	22q11.21	2011-10-10			ENSG00000244486	ENSG00000244486			19869	protein-coding gene	gene with protein product		613619				12154095	Standard	XM_006724364		Approved	SREC-II, SREC2, HUMZD58C02	uc002zsk.2	Q96GP6	OTTHUMG00000150779	ENST00000266214.5:c.2181C>G	22.37:g.20780097G>C		0	0		14	14	NM_153334	0	0	0	0	0	E5RFB8|Q58A83|Q8IXF3|Q9BW74	Silent	SNP	ENST00000266214.5	37	CCDS13779.1																																																																																			G|0.826;C|0.174		0.781	SCARF2-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320047.1		
KLHL22	84861	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	22	20812147	20812147	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr22:20812147C>T	ENST00000328879.4	-	5	1409	c.1253G>A	c.(1252-1254)cGc>cAc	p.R418H	KLHL22_ENST00000440659.2_Missense_Mutation_p.R275H	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	418					cell division (GO:0051301)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein monoubiquitination (GO:0006513)	centrosome (GO:0005813)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|polar microtubule (GO:0005827)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			AGGGTCGTAGCGCTCCACAGC	0.602																																					p.R418H		.											.	KLHL22-278	0			c.G1253A						.						97.0	69.0	79.0					22																	20812147		2203	4300	6503	SO:0001583	missense	84861	exon5			TCGTAGCGCTCCA		CCDS13780.1	22q11.21	2013-01-30	2013-01-30		ENSG00000099910	ENSG00000099910		"""Kelch-like"", ""BTB/POZ domain containing"""	25888	protein-coding gene	gene with protein product			"""kelch-like 22 (Drosophila)"""			12477932	Standard	NM_032775		Approved	FLJ14360, KELCHL	uc002zsl.2	Q53GT1	OTTHUMG00000150778	ENST00000328879.4:c.1253G>A	22.37:g.20812147C>T	ENSP00000331682:p.Arg418His	161	0		154	69	NM_032775	0	0	18	31	13	A8K3Q4|A8MTV3|B7Z2G1|D3DX30|Q96B68|Q96KC6	Missense_Mutation	SNP	ENST00000328879.4	37	CCDS13780.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.944655	0.92593	.	.	ENSG00000099910	ENST00000328879;ENST00000440659	T;T	0.81247	-1.47;-1.47	4.5	4.5	0.54988	Kelch-type beta propeller (1);	0.054034	0.64402	D	0.000003	D	0.89911	0.6852	M	0.85630	2.765	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.973	D	0.91058	0.4883	10	0.56958	D	0.05	.	14.7479	0.69501	0.0:1.0:0.0:0.0	.	275;418	B7Z2G1;Q53GT1	.;KLH22_HUMAN	H	418;275	ENSP00000331682:R418H;ENSP00000405521:R275H	ENSP00000331682:R418H	R	-	2	0	KLHL22	19142147	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.809000	0.69172	2.329000	0.79093	0.563000	0.77884	CGC	.		0.602	KLHL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320045.2	NM_032775	
PI4KA	5297	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	22	21172828	21172828	+	Nonsense_Mutation	SNP	C	C	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr22:21172828C>A	ENST00000572273.1	-	7	855	c.625G>T	c.(625-627)Gaa>Taa	p.E209*	PI4KA_ENST00000255882.6_Nonsense_Mutation_p.E267*			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	209					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			ATGCCGCGTTCAGGGCTGACC	0.493																																					p.E267X	GBM(136;1332 1831 3115 23601 50806)	.											.	PI4KA-454	0			c.G799T						.						55.0	52.0	53.0					22																	21172828		2203	4300	6503	SO:0001587	stop_gained	5297	exon7			CGCGTTCAGGGCT	L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.625G>T	22.37:g.21172828C>A	ENSP00000458238:p.Glu209*	55	0		54	16	NM_058004	0	0	0	0	0	Q7Z625|Q9UPG2	Nonsense_Mutation	SNP	ENST00000572273.1	37		.	.	.	.	.	.	.	.	.	.	C	39	7.780864	0.98486	.	.	ENSG00000241973	ENST00000255882	.	.	.	5.16	5.16	0.70880	.	0.104721	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	-23.9321	18.8434	0.92194	0.0:1.0:0.0:0.0	.	.	.	.	X	209	.	ENSP00000255882:E209X	E	-	1	0	PI4KA	19502828	1.000000	0.71417	0.982000	0.44146	0.972000	0.66771	6.941000	0.75922	2.678000	0.91216	0.563000	0.77884	GAA	.		0.493	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004	
AIFM3	150209	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	22	21334397	21334397	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr22:21334397C>T	ENST00000399167.2	+	19	1981	c.1741C>T	c.(1741-1743)Cgg>Tgg	p.R581W	XXbac-B135H6.18_ENST00000610278.1_lincRNA|AIFM3_ENST00000405089.1_Missense_Mutation_p.R587W|LZTR1_ENST00000389355.3_5'Flank|LZTR1_ENST00000215739.8_5'Flank|AIFM3_ENST00000333607.6_Missense_Mutation_p.R581W|AIFM3_ENST00000399163.2_Missense_Mutation_p.R581W|AIFM3_ENST00000465606.1_3'UTR|AIFM3_ENST00000440238.2_Missense_Mutation_p.R581W|LZTR1_ENST00000479606.1_3'UTR|AIFM3_ENST00000335375.5_Missense_Mutation_p.R569W	NM_144704.2	NP_653305.1	Q96NN9	AIFM3_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 3	581					cell redox homeostasis (GO:0045454)|execution phase of apoptosis (GO:0097194)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)	p.R581R(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CCGTGCCATCCGGAAGCGGGA	0.632																																					p.R587W		.											.	AIFM3-280	1	Substitution - coding silent(1)	breast(1)	c.C1759T						.						65.0	52.0	57.0					22																	21334397		2203	4300	6503	SO:0001583	missense	150209	exon19			GCCATCCGGAAGC	AK094844	CCDS13786.1, CCDS33605.1, CCDS54503.1	22q11.21	2007-05-03			ENSG00000183773	ENSG00000183773			26398	protein-coding gene	gene with protein product						15764604	Standard	NM_144704		Approved	AIFL, FLJ30473		Q96NN9	OTTHUMG00000150804	ENST00000399167.2:c.1741C>T	22.37:g.21334397C>T	ENSP00000382120:p.Arg581Trp	45	0		69	28	NM_001146288	0	0	3	5	2	B7WP37|D3DX37|D3DX38|Q6ZT44|Q8N1V3|Q8N5E0	Missense_Mutation	SNP	ENST00000399167.2	37	CCDS13786.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.496217	0.85069	.	.	ENSG00000183773;ENSG00000183773;ENSG00000183773;ENSG00000183773;ENSG00000183773;ENSG00000183773;ENSG00000099949	ENST00000399167;ENST00000399163;ENST00000405089;ENST00000335375;ENST00000440238;ENST00000333607;ENST00000539817	T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93	4.87	4.87	0.63330	FAD/NAD-linked reductase, dimerisation (1);Pyridine nucleotide-disulphide oxidoreductase, dimerisation (1);	0.125968	0.49916	D	0.000136	T	0.54382	0.1855	L	0.50333	1.59	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.997;1.0;0.999;0.999;0.998	D;P;D;D;D;P	0.67103	0.919;0.733;0.937;0.949;0.949;0.889	T	0.55749	-0.8092	10	0.72032	D	0.01	-6.1342	10.5841	0.45273	0.192:0.808:0.0:0.0	.	569;21;569;587;581;581	B7Z9S7;F5GXU8;B7Z376;Q96NN9-2;Q96NN9-3;Q96NN9	.;.;.;.;.;AIFM3_HUMAN	W	581;581;587;569;581;581;21	ENSP00000382120:R581W;ENSP00000382116:R581W;ENSP00000385800:R587W;ENSP00000335369:R569W;ENSP00000390798:R581W;ENSP00000327671:R581W	ENSP00000327671:R581W	R	+	1	2	AIFM3;LZTR1	19664397	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.421000	0.44688	2.530000	0.85305	0.655000	0.94253	CGG	.		0.632	AIFM3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320150.1	NM_144704	
HIC2	23119	hgsc.bcm.edu	37	22	21799659	21799659	+	Frame_Shift_Del	DEL	C	C	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr22:21799659delC	ENST00000443632.2	+	2	847	c.475delC	c.(475-477)cccfs	p.P160fs	HIC2_ENST00000407464.2_Frame_Shift_Del_p.P160fs|HIC2_ENST00000407598.2_Frame_Shift_Del_p.P160fs			Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	160					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				CATGGGGCGGCCCCCCCGCAG	0.721																																					p.P159fs	NSCLC(23;437 858 2282 27947 40366)	.											.	HIC2-703	0			c.475delC						.			26,3852		4,18,1917	7.0	9.0	8.0			0.5	0.4	22		8	58,7790		5,48,3871	no	frameshift	HIC2	NM_015094.2		9,66,5788	A1A1,A1R,RR		0.739,0.6704,0.7164			21799659	84,11642	2111	4200	6311	SO:0001589	frameshift_variant	23119	exon3			GGGCGGCCCCCCC	AB028943	CCDS13789.1	22q11.21	2013-01-09			ENSG00000169635	ENSG00000169635		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18595	protein-coding gene	gene with protein product		607712				11554746	Standard	NM_015094		Approved	KIAA1020, HRG22, ZBTB30, ZNF907	uc002zur.4	Q96JB3	OTTHUMG00000150781	ENST00000443632.2:c.475delC	22.37:g.21799659delC	ENSP00000387757:p.Pro160fs	9	1		42	14	NM_015094	0	0	0	0	0	Q504T6|Q96KR3|Q9NSM9|Q9UPX9	Frame_Shift_Del	DEL	ENST00000443632.2	37	CCDS13789.1																																																																																			.		0.721	HIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320061.2		
CCDC116	164592	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	22	21988695	21988695	+	Missense_Mutation	SNP	A	A	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr22:21988695A>T	ENST00000292779.3	+	3	618	c.457A>T	c.(457-459)Agc>Tgc	p.S153C	CCDC116_ENST00000607942.1_Missense_Mutation_p.S153C	NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	153	Poly-Ser.									endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					CTACCCATCCAGCTCCAGCTC	0.657																																					p.S153C		.											.	CCDC116-92	0			c.A457T						.						87.0	94.0	92.0					22																	21988695		2203	4299	6502	SO:0001583	missense	164592	exon3			CCATCCAGCTCCA	BC033499	CCDS13791.1	22q11.21	2006-06-27			ENSG00000161180	ENSG00000161180			26688	protein-coding gene	gene with protein product						12477932	Standard	NM_152612		Approved	FLJ36046	uc002zve.3	Q8IYX3	OTTHUMG00000150821	ENST00000292779.3:c.457A>T	22.37:g.21988695A>T	ENSP00000292779:p.Ser153Cys	110	0		127	60	NM_152612	0	0	0	0	0	Q8N9Y9	Missense_Mutation	SNP	ENST00000292779.3	37	CCDS13791.1	.	.	.	.	.	.	.	.	.	.	A	16.08	3.021392	0.54576	.	.	ENSG00000161180	ENST00000292779	T	0.23552	1.9	4.42	-2.22	0.06952	.	0.594012	0.16315	N	0.219814	T	0.09905	0.0243	N	0.14661	0.345	0.21841	N	0.999519	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.24225	-1.0166	9	.	.	.	-67.823	3.2038	0.06658	0.3472:0.336:0.0:0.3168	.	153;153	B7Z7H5;Q8IYX3-2	.;.	C	153	ENSP00000292779:S153C	.	S	+	1	0	CCDC116	20318695	0.141000	0.22595	0.985000	0.45067	0.853000	0.48598	-0.122000	0.10627	-0.238000	0.09724	-0.669000	0.03829	AGC	.		0.657	CCDC116-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320199.1	NM_152612	
CCDC116	164592	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	22	21989306	21989306	+	Silent	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr22:21989306C>T	ENST00000292779.3	+	4	1115	c.954C>T	c.(952-954)agC>agT	p.S318S	CCDC116_ENST00000607942.1_Silent_p.S318S	NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	318										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					GCGTGGTCAGCCAGGCTGTGG	0.672																																					p.S318S		.											.	CCDC116-92	0			c.C954T						.						37.0	41.0	39.0					22																	21989306		2203	4298	6501	SO:0001819	synonymous_variant	164592	exon4			GGTCAGCCAGGCT	BC033499	CCDS13791.1	22q11.21	2006-06-27			ENSG00000161180	ENSG00000161180			26688	protein-coding gene	gene with protein product						12477932	Standard	NM_152612		Approved	FLJ36046	uc002zve.3	Q8IYX3	OTTHUMG00000150821	ENST00000292779.3:c.954C>T	22.37:g.21989306C>T		104	0		144	63	NM_152612	0	0	1	1	0	Q8N9Y9	Silent	SNP	ENST00000292779.3	37	CCDS13791.1																																																																																			.		0.672	CCDC116-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320199.1	NM_152612	
MAPK1	5594	broad.mit.edu;ucsc.edu;bcgsc.ca	37	22	22153374	22153374	+	Missense_Mutation	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr22:22153374T>C	ENST00000215832.6	-	4	724	c.536A>G	c.(535-537)gAt>gGt	p.D179G	MAPK1_ENST00000544786.1_Missense_Mutation_p.D179G|MAPK1_ENST00000398822.3_Missense_Mutation_p.D179G	NM_002745.4	NP_002736.3	P28482	MK01_HUMAN	mitogen-activated protein kinase 1	179	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|caveolin-mediated endocytosis (GO:0072584)|cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|chemotaxis (GO:0006935)|cytosine metabolic process (GO:0019858)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|labyrinthine layer blood vessel development (GO:0060716)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mammary gland epithelial cell proliferation (GO:0033598)|MAPK cascade (GO:0000165)|MAPK import into nucleus (GO:0000189)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell differentiation (GO:0045596)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|Ras protein signal transduction (GO:0007265)|regulation of cytoskeleton organization (GO:0051493)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of protein stability (GO:0031647)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of stress-activated MAPK cascade (GO:0032872)|response to epidermal growth factor (GO:0070849)|response to estrogen (GO:0043627)|response to exogenous dsRNA (GO:0043330)|response to stress (GO:0006950)|response to toxic substance (GO:0009636)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|T cell receptor signaling pathway (GO:0050852)|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)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein complex (GO:0043234)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MAP kinase activity (GO:0004707)|phosphatase binding (GO:0019902)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Colorectal(54;0.105)	all_lung(157;3.89e-05)		READ - Rectum adenocarcinoma(21;0.0689)	Arsenic trioxide(DB01169)|Isoprenaline(DB01064)	CCCTGTGTGATCATGGTCTGG	0.403																																					p.D179G		.											.	MAPK1-1405	0			c.A536G						.						90.0	79.0	82.0					22																	22153374		2203	4300	6503	SO:0001583	missense	5594	exon4			GTGTGATCATGGT	M84489	CCDS13795.1	22q11.2	2014-09-17			ENSG00000100030	ENSG00000100030	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6871	protein-coding gene	gene with protein product		176948		PRKM2, PRKM1			Standard	NM_138957		Approved	ERK, ERK2, p41mapk, MAPK2	uc002zvn.3	P28482	OTTHUMG00000030508	ENST00000215832.6:c.536A>G	22.37:g.22153374T>C	ENSP00000215832:p.Asp179Gly	115	2		126	61	NM_002745	0	1	71	128	56	A8CZ64	Missense_Mutation	SNP	ENST00000215832.6	37	CCDS13795.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.404201	0.83230	.	.	ENSG00000100030	ENST00000215832;ENST00000415911;ENST00000398822;ENST00000544786	T;T;T	0.64618	-0.11;-0.11;-0.11	5.14	4.1	0.47936	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.67859	0.2938	L	0.46567	1.45	0.80722	D	1	P;B	0.42692	0.787;0.326	P;P	0.56216	0.794;0.545	T	0.67142	-0.5745	10	0.51188	T	0.08	-3.3481	11.0168	0.47693	0.0:0.073:0.0:0.927	.	179;179	A8CZ64;P28482	.;MK01_HUMAN	G	179;167;179;179	ENSP00000215832:D179G;ENSP00000381803:D179G;ENSP00000440842:D179G	ENSP00000215832:D179G	D	-	2	0	MAPK1	20483374	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	7.868000	0.87116	0.967000	0.38186	0.459000	0.35465	GAT	.		0.403	MAPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000075396.2		
PPM1F	9647	broad.mit.edu;ucsc.edu;bcgsc.ca	37	22	22277674	22277674	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr22:22277674C>T	ENST00000263212.5	-	8	1261	c.1156G>A	c.(1156-1158)Ggg>Agg	p.G386R	PPM1F_ENST00000407142.1_Missense_Mutation_p.G218R|PPM1F_ENST00000538191.1_Missense_Mutation_p.G282R	NM_014634.3	NP_055449.1	P49593	PPM1F_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1F	386					cellular response to drug (GO:0035690)|histone dephosphorylation (GO:0016576)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-threonine dephosphorylation (GO:0035970)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of growth (GO:0045927)|positive regulation of stress fiber assembly (GO:0051496)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	calmodulin-dependent protein phosphatase activity (GO:0033192)|metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	12	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)		ACACGGAGCCCGCTGCCCTGC	0.652																																					p.G386R		.											.	PPM1F-292	0			c.G1156A						.						40.0	44.0	42.0					22																	22277674		2203	4300	6503	SO:0001583	missense	9647	exon8			GGAGCCCGCTGCC	D13640	CCDS13796.1	22q11.22	2012-04-17	2010-03-05		ENSG00000100034	ENSG00000100034	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	19388	protein-coding gene	gene with protein product	"""partner of PIX 2"", ""Ca(2+)/calmodulin-dependent protein kinase phosphatase"""		"""protein phosphatase 1F (PP2C domain containing)"""			11864573, 11559703	Standard	NM_014634		Approved	FEM-2, KIAA0015, POPX2, CaMKPase, CAMKP	uc002zvp.2	P49593	OTTHUMG00000150835	ENST00000263212.5:c.1156G>A	22.37:g.22277674C>T	ENSP00000263212:p.Gly386Arg	66	1		162	67	NM_014634	0	0	7	20	13	A8K6G3|B7Z2C3|Q96PM2	Missense_Mutation	SNP	ENST00000263212.5	37	CCDS13796.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.844659	0.51164	.	.	ENSG00000100034	ENST00000263212;ENST00000407142;ENST00000406981;ENST00000538191	T;T;T	0.16597	2.33;2.33;2.33	5.3	5.3	0.74995	Protein phosphatase 2C-like (5);	0.273076	0.42172	D	0.000758	T	0.10380	0.0254	N	0.20328	0.56	0.54753	D	0.999986	B;B	0.34161	0.178;0.439	B;B	0.29663	0.046;0.105	T	0.24048	-1.0171	10	0.15499	T	0.54	-20.1769	14.0322	0.64622	0.1509:0.8491:0.0:0.0	.	282;386	B7Z2C3;P49593	.;PPM1F_HUMAN	R	386;218;218;282	ENSP00000263212:G386R;ENSP00000384930:G218R;ENSP00000439915:G282R	ENSP00000263212:G386R	G	-	1	0	PPM1F	20607674	0.134000	0.22483	0.808000	0.32385	0.444000	0.32077	0.939000	0.28978	2.757000	0.94681	0.655000	0.94253	GGG	.		0.652	PPM1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320267.2	NM_014634	
BCR	613	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	22	23637231	23637231	+	Silent	SNP	G	G	A	rs200598253		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr22:23637231G>A	ENST00000305877.8	+	16	3652	c.2901G>A	c.(2899-2901)gaG>gaA	p.E967E	BCR_ENST00000359540.3_Intron	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	967	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of phagocytosis (GO:0050766)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35					Bosutinib(DB06616)|Ponatinib(DB08901)	TAGAGCTGGAGGGCTCCCAGA	0.547			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""																																p.E967E		.		Dom	yes		22	22q11.21	613	breakpoint cluster region		L	.	BCR-1349	0			c.G2901A						.						107.0	101.0	103.0					22																	23637231		2203	4300	6503	SO:0001819	synonymous_variant	613	exon16			GCTGGAGGGCTCC		CCDS13806.1, CCDS13807.1	22q11	2013-01-10			ENSG00000186716	ENSG00000186716		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	1014	protein-coding gene	gene with protein product		151410		D22S11, BCR1		1657398, 18070886	Standard	NM_004327		Approved	D22S662, CML, PHL, ALL	uc002zww.3	P11274	OTTHUMG00000150655	ENST00000305877.8:c.2901G>A	22.37:g.23637231G>A		192	0		254	95	NM_004327	0	0	50	100	50	P78501|Q12842|Q4LE80|Q6NZI3	Silent	SNP	ENST00000305877.8	37	CCDS13806.1																																																																																			G|1.000;A|0.000		0.547	BCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075819.1	NM_004327	
MIF	4282	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	22	24236679	24236679	+	Silent	SNP	A	A	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr22:24236679A>T	ENST00000215754.7	+	1	489	c.18A>T	c.(16-18)gtA>gtT	p.V6V	AP000350.4_ENST00000406213.1_3'UTR|AP000350.10_ENST00000433835.3_Intron	NM_002415.1	NP_002406.1	P03971	MIS_HUMAN	macrophage migration inhibitory factor (glycosylation-inhibiting factor)	0					aging (GO:0007568)|cell-cell signaling (GO:0007267)|gonadal mesoderm development (GO:0007506)|Mullerian duct regression (GO:0001880)|positive regulation of gene expression (GO:0010628)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|preantral ovarian follicle growth (GO:0001546)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|sex determination (GO:0007530)|sex differentiation (GO:0007548)|urogenital system development (GO:0001655)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone activity (GO:0005179)|receptor binding (GO:0005102)			urinary_tract(1)	1						TGTTCATCGTAAACACCAACG	0.692																																					p.V6V		.											.	MIF-514	0			c.A18T						.						51.0	41.0	45.0					22																	24236679		2202	4300	6502	SO:0001819	synonymous_variant	4282	exon1			CATCGTAAACACC	M25639	CCDS13819.1	22q11.23	2007-04-26			ENSG00000240972	ENSG00000240972			7097	protein-coding gene	gene with protein product		153620		GLIF		7558020, 2552447	Standard	NM_002415		Approved	GIF	uc002zyr.1	P14174	OTTHUMG00000150773	ENST00000215754.7:c.18A>T	22.37:g.24236679A>T		170	0		357	144	NM_002415	0	1	1772	1773	0	O75246|Q6GTN3	Silent	SNP	ENST00000215754.7	37	CCDS13819.1																																																																																			.		0.692	MIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320009.1	NM_002415	
MIF	4282	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	22	24236682	24236682	+	Missense_Mutation	SNP	C	C	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr22:24236682C>A	ENST00000215754.7	+	1	492	c.21C>A	c.(19-21)aaC>aaA	p.N7K	AP000350.4_ENST00000406213.1_3'UTR|AP000350.10_ENST00000433835.3_Intron	NM_002415.1	NP_002406.1	P03971	MIS_HUMAN	macrophage migration inhibitory factor (glycosylation-inhibiting factor)	0					aging (GO:0007568)|cell-cell signaling (GO:0007267)|gonadal mesoderm development (GO:0007506)|Mullerian duct regression (GO:0001880)|positive regulation of gene expression (GO:0010628)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|preantral ovarian follicle growth (GO:0001546)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|sex determination (GO:0007530)|sex differentiation (GO:0007548)|urogenital system development (GO:0001655)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone activity (GO:0005179)|receptor binding (GO:0005102)			urinary_tract(1)	1						TCATCGTAAACACCAACGTGC	0.692																																					p.N7K		.											.	MIF-514	0			c.C21A						.						51.0	42.0	45.0					22																	24236682		2202	4300	6502	SO:0001583	missense	4282	exon1			CGTAAACACCAAC	M25639	CCDS13819.1	22q11.23	2007-04-26			ENSG00000240972	ENSG00000240972			7097	protein-coding gene	gene with protein product		153620		GLIF		7558020, 2552447	Standard	NM_002415		Approved	GIF	uc002zyr.1	P14174	OTTHUMG00000150773	ENST00000215754.7:c.21C>A	22.37:g.24236682C>A	ENSP00000215754:p.Asn7Lys	168	0		354	144	NM_002415	1	0	1826	1832	4	O75246|Q6GTN3	Missense_Mutation	SNP	ENST00000215754.7	37	CCDS13819.1	.	.	.	.	.	.	.	.	.	.	c	21.2	4.111176	0.77210	.	.	ENSG00000240972	ENST00000215754	.	.	.	5.4	0.317	0.15861	Tautomerase (2);	0.172917	0.49305	D	0.000146	T	0.39911	0.1096	L	0.33624	1.015	0.54753	D	0.999985	P	0.44478	0.836	P	0.45474	0.482	T	0.13469	-1.0508	9	0.45353	T	0.12	-30.4043	6.1229	0.20164	0.0:0.5683:0.1754:0.2563	.	7	P14174	MIF_HUMAN	K	7	.	ENSP00000215754:N7K	N	+	3	2	MIF	22566682	0.999000	0.42202	0.998000	0.56505	0.967000	0.64934	0.754000	0.26390	0.366000	0.24427	0.558000	0.71614	AAC	.		0.692	MIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320009.1	NM_002415	
AP000350.10	0	hgsc.bcm.edu	37	22	24237111	24237111	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr22:24237111C>T	ENST00000433835.3	+	5	584	c.584C>T	c.(583-585)gCc>gTc	p.A195V	MIF_ENST00000215754.7_Silent_p.R87R|AP000350.4_ENST00000406213.1_3'UTR																							TGGCCGAGCGCCTGCGCATCA	0.756																																					p.R87R		.											.	MIF-514	0			c.C261T						.						3.0	4.0	3.0					22																	24237111		1919	3844	5763	SO:0001583	missense	4282	exon2			CGAGCGCCTGCGC																												ENST00000433835.3:c.584C>T	22.37:g.24237111C>T	ENSP00000400325:p.Ala195Val	2	0		30	17	NM_002415	2	2	1876	4238	2358		Silent	SNP	ENST00000433835.3	37																																																																																				.		0.756	AP000350.10-005	PUTATIVE	mRNA_start_NF|cds_start_NF|basic|appris_principal|readthrough_transcript	protein_coding	protein_coding	OTTHUMT00000334403.3		
CRYBB3	1417	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	22	25601272	25601272	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr22:25601272G>A	ENST00000215855.2	+	5	493	c.413G>A	c.(412-414)aGc>aAc	p.S138N	CRYBB3_ENST00000404334.1_Intron	NM_004076.3	NP_004067.1	P26998	CRBB3_HUMAN	crystallin, beta B3	138	Beta/gamma crystallin 'Greek key' 3. {ECO:0000255|PROSITE-ProRule:PRU00028}.				visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)			large_intestine(2)|lung(2)|prostate(1)	5						GACGTGCCCAGCCTGTGGGCT	0.572																																					p.G138D		.											.	CRYBB3-90	0			c.G413A						.						105.0	80.0	88.0					22																	25601272		2203	4300	6503	SO:0001583	missense	1417	exon5			TGCCCAGCCTGTG		CCDS13830.1	22q11.23	2008-06-10			ENSG00000100053	ENSG00000100053			2400	protein-coding gene	gene with protein product		123630		CRYB3		8999933	Standard	NM_004076		Approved		uc003abo.2	P26998	OTTHUMG00000150869	ENST00000215855.2:c.413G>A	22.37:g.25601272G>A	ENSP00000215855:p.Ser138Asn	227	0		279	127	NM_004076	0	0	2	3	1	Q3B7S9|Q3T1B7|Q6ISK6|Q92965|Q9UH09	Missense_Mutation	SNP	ENST00000215855.2	37	CCDS13830.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.839675	0.91117	.	.	ENSG00000100053	ENST00000215855	T	0.75938	-0.98	5.2	4.19	0.49359	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.040598	0.85682	N	0.000000	T	0.77745	0.4176	L	0.42008	1.315	0.80722	D	1	P	0.44344	0.833	P	0.57244	0.816	T	0.75631	-0.3251	10	0.37606	T	0.19	.	12.229	0.54476	0.0831:0.0:0.9169:0.0	.	138	P26998	CRBB3_HUMAN	N	138	ENSP00000215855:S138N	ENSP00000215855:S138N	S	+	2	0	CRYBB3	23931272	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.989000	0.76219	1.190000	0.43042	0.555000	0.69702	AGC	.		0.572	CRYBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320352.1	NM_004076	
ASCC2	84164	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	22	30197089	30197089	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr22:30197089G>A	ENST00000397771.2	-	16	1756	c.1579C>T	c.(1579-1581)Cca>Tca	p.P527S	ASCC2_ENST00000307790.3_Missense_Mutation_p.P527S|ASCC2_ENST00000542393.1_Missense_Mutation_p.P451S			Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit 2	527					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			GTAGGGTCTGGTTTCATTTCT	0.542																																					p.P527S		.											.	ASCC2-90	0			c.C1579T						.						164.0	163.0	163.0					22																	30197089		2203	4300	6503	SO:0001583	missense	84164	exon15			GGTCTGGTTTCAT	AY013289	CCDS13869.1, CCDS56226.1	22q12.1	2004-07-27			ENSG00000100325	ENSG00000100325			24103	protein-coding gene	gene with protein product	"""ASC 1 complex subunit P100"""	614216				12077347, 9847074	Standard	NM_032204		Approved	ASC1p100, FLJ21588, DKFZp586O0223	uc003agr.3	Q9H1I8	OTTHUMG00000067658	ENST00000397771.2:c.1579C>T	22.37:g.30197089G>A	ENSP00000380877:p.Pro527Ser	85	1		87	36	NM_032204	0	0	0	0	0	B7Z8E0|F5H6J9|Q4TT54|Q8TAZ0|Q9H711|Q9H9D6	Missense_Mutation	SNP	ENST00000397771.2	37	CCDS13869.1	.	.	.	.	.	.	.	.	.	.	G	14.85	2.659647	0.47572	.	.	ENSG00000100325	ENST00000307790;ENST00000397771;ENST00000542393;ENST00000411532	T;T;T;T	0.33865	2.7;2.7;2.71;1.39	5.17	5.17	0.71159	.	0.322228	0.35320	N	0.003285	T	0.36580	0.0972	M	0.70595	2.14	0.45330	D	0.998325	B;P	0.47302	0.36;0.893	B;B	0.37692	0.245;0.256	T	0.26052	-1.0114	10	0.23891	T	0.37	-12.9767	15.9749	0.80054	0.0:0.0:1.0:0.0	.	451;527	F5H6J9;Q9H1I8	.;ASCC2_HUMAN	S	527;527;451;18	ENSP00000305502:P527S;ENSP00000380877:P527S;ENSP00000437570:P451S;ENSP00000414545:P18S	ENSP00000305502:P527S	P	-	1	0	ASCC2	28527089	1.000000	0.71417	0.986000	0.45419	0.806000	0.45545	2.730000	0.47335	2.688000	0.91661	0.563000	0.77884	CCA	.		0.542	ASCC2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322127.1	NM_032204	
LIF	3976	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	22	30639991	30639991	+	Silent	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr22:30639991C>T	ENST00000249075.3	-	3	413	c.258G>A	c.(256-258)gtG>gtA	p.V86V	RP1-102K2.8_ENST00000608354.1_RNA|RP1-102K2.8_ENST00000593843.1_RNA|LIF_ENST00000403987.3_Missense_Mutation_p.D27N	NM_002309.4	NP_002300.1	P15018	LIF_HUMAN	leukemia inhibitory factor	86					blood vessel remodeling (GO:0001974)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|immune response (GO:0006955)|leukemia inhibitory factor signaling pathway (GO:0048861)|lung alveolus development (GO:0048286)|lung lobe morphogenesis (GO:0060463)|lung vasculature development (GO:0060426)|multicellular organismal development (GO:0007275)|muscle organ morphogenesis (GO:0048644)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of hormone secretion (GO:0046888)|negative regulation of meiosis (GO:0045835)|neuron development (GO:0048666)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cell proliferation (GO:0008284)|positive regulation of histone H3-K27 acetylation (GO:1901676)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein localization to nucleus (GO:1900182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|spongiotrophoblast differentiation (GO:0060708)|stem cell maintenance (GO:0019827)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)|tyrosine phosphorylation of Stat3 protein (GO:0042503)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|leukemia inhibitory factor receptor binding (GO:0005146)|receptor binding (GO:0005102)|RNA polymerase II transcription factor recruiting transcription factor activity (GO:0001135)			breast(1)|lung(3)|skin(3)	7			Epithelial(10;0.171)			GGAAGTCCGTCACGTTGGGGC	0.627																																					p.D27N		.											.	LIF-650	0			c.G79A						.						112.0	98.0	103.0					22																	30639991		2203	4300	6503	SO:0001819	synonymous_variant	3976	exon2			GTCCGTCACGTTG		CCDS13872.1, CCDS58799.1	22q12.2	2012-02-09	2012-02-09		ENSG00000128342	ENSG00000128342			6596	protein-coding gene	gene with protein product	"""differentiation inhibitory activity"", ""differentiation-inducing factor"", ""hepatocyte-stimulating factor III"", ""cholinergic differentiation factor"", ""human interleukin in DA cells"""	159540				1714745, 8058719	Standard	NM_002309		Approved	CDF, DIA, HILDA	uc003agz.3	P15018	OTTHUMG00000150910	ENST00000249075.3:c.258G>A	22.37:g.30639991C>T		108	0		146	65	NM_001257135	0	0	2	2	0	B2RCW7|B5MC23|Q52LZ2	Missense_Mutation	SNP	ENST00000249075.3	37	CCDS13872.1	.	.	.	.	.	.	.	.	.	.	C	13.81	2.348675	0.41599	.	.	ENSG00000128342	ENST00000403987	.	.	.	4.69	4.69	0.59074	.	.	.	.	.	T	0.65450	0.2692	.	.	.	0.22982	N	0.998479	D	0.71674	0.998	D	0.68943	0.961	T	0.57177	-0.7856	7	0.87932	D	0	-9.6573	11.3733	0.49713	0.0:0.8005:0.1995:0.0	.	27	B5MC23	.	N	27	.	ENSP00000384450:D27N	D	-	1	0	LIF	28969991	0.986000	0.35501	0.951000	0.38953	0.871000	0.50021	1.165000	0.31822	2.132000	0.65825	0.561000	0.74099	GAC	.		0.627	LIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320508.1	NM_002309	
PATZ1	23598	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	22	31740473	31740473	+	Silent	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr22:31740473C>T	ENST00000266269.5	-	1	1745	c.1116G>A	c.(1114-1116)cgG>cgA	p.R372R	PATZ1_ENST00000351933.4_Silent_p.R372R|PATZ1_ENST00000215919.3_Silent_p.R372R|PATZ1_ENST00000405309.3_Silent_p.R372R|AC005003.1_ENST00000504184.2_5'Flank	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	372					male gonad development (GO:0008584)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R372R(2)	EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						ACAGCTTGTGCCGGTTAAGAT	0.582																																					p.R372R		.											.	PATZ1-590	2	Substitution - coding silent(2)	kidney(2)	c.G1116A						.						113.0	108.0	110.0					22																	31740473		2203	4300	6503	SO:0001819	synonymous_variant	23598	exon1			CTTGTGCCGGTTA	AL096880	CCDS13894.1, CCDS13895.1, CCDS13896.1, CCDS46691.1	22q12.2	2013-01-09	2006-09-19	2006-09-19	ENSG00000100105	ENSG00000100105		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13071	protein-coding gene	gene with protein product		605165	"""zinc finger protein 278"""	ZNF278		10591208, 18241078, 18401526	Standard	NM_014323		Approved	MAZR, dJ400N23, ZBTB19, ZSG, RIAZ, PATZ	uc003akq.3	Q9HBE1	OTTHUMG00000151254	ENST00000266269.5:c.1116G>A	22.37:g.31740473C>T		125	1		191	84	NM_032050	0	0	11	20	9	Q9HBE2|Q9HBE3|Q9P1A9|Q9UDU0|Q9Y529	Silent	SNP	ENST00000266269.5	37	CCDS13894.1																																																																																			.		0.582	PATZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321932.1	NM_032052	
PATZ1	23598	broad.mit.edu;bcgsc.ca	37	22	31741473	31741473	+	Missense_Mutation	SNP	C	C	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr22:31741473C>A	ENST00000266269.5	-	1	745	c.116G>T	c.(115-117)cGc>cTc	p.R39L	PATZ1_ENST00000351933.4_Missense_Mutation_p.R39L|PATZ1_ENST00000215919.3_Missense_Mutation_p.R39L|PATZ1_ENST00000405309.3_Missense_Mutation_p.R39L|AC005003.1_ENST00000504184.2_5'Flank	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	39					male gonad development (GO:0008584)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)		EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						GTCGCAGAAGCGCCCGCCGTT	0.647																																					p.R39L		.											.	PATZ1-590	0			c.G116T						.						37.0	33.0	35.0					22																	31741473		2203	4299	6502	SO:0001583	missense	23598	exon1			CAGAAGCGCCCGC	AL096880	CCDS13894.1, CCDS13895.1, CCDS13896.1, CCDS46691.1	22q12.2	2013-01-09	2006-09-19	2006-09-19	ENSG00000100105	ENSG00000100105		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13071	protein-coding gene	gene with protein product		605165	"""zinc finger protein 278"""	ZNF278		10591208, 18241078, 18401526	Standard	NM_014323		Approved	MAZR, dJ400N23, ZBTB19, ZSG, RIAZ, PATZ	uc003akq.3	Q9HBE1	OTTHUMG00000151254	ENST00000266269.5:c.116G>T	22.37:g.31741473C>A	ENSP00000266269:p.Arg39Leu	131	2		274	129	NM_032050	0	0	1	5	4	Q9HBE2|Q9HBE3|Q9P1A9|Q9UDU0|Q9Y529	Missense_Mutation	SNP	ENST00000266269.5	37	CCDS13894.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.015598	0.93404	.	.	ENSG00000100105	ENST00000266269;ENST00000405309;ENST00000351933;ENST00000215919	T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23	4.09	4.09	0.47781	BTB/POZ (1);BTB/POZ fold (2);	0.324284	0.29783	N	0.011207	T	0.60919	0.2306	N	0.01742	-0.745	0.80722	D	1	D;D;D;D	0.76494	0.999;0.987;0.999;0.999	D;D;D;D	0.85130	0.995;0.988;0.997;0.995	T	0.75581	-0.3268	10	0.87932	D	0	-15.7962	15.2957	0.73906	0.0:1.0:0.0:0.0	.	39;39;39;39	Q9HBE1-4;Q9HBE1-3;Q9HBE1;Q9HBE1-2	.;.;PATZ1_HUMAN;.	L	39	ENSP00000266269:R39L;ENSP00000384173:R39L;ENSP00000337520:R39L;ENSP00000215919:R39L	ENSP00000215919:R39L	R	-	2	0	PATZ1	30071473	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.922000	0.28734	1.994000	0.58287	0.485000	0.47835	CGC	.		0.647	PATZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321932.1	NM_032052	
MCM5	4174	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	22	35815946	35815946	+	Silent	SNP	C	C	T	rs374156334		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr22:35815946C>T	ENST00000216122.4	+	14	1927	c.1773C>T	c.(1771-1773)agC>agT	p.S591S	MCM5_ENST00000382011.5_Silent_p.S548S	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	591				S -> T (in Ref. 3; BAA12176). {ECO:0000305}.	DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						TCATGCGGAGCGGGGCCCGTC	0.652																																					p.S591S		.											.	MCM5-228	0			c.C1773T						.	C		0,4406		0,0,2203	60.0	63.0	62.0		1773	-0.3	1.0	22		62	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MCM5	NM_006739.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		591/735	35815946	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4174	exon14			GCGGAGCGGGGCC		CCDS13915.1	22q13.1-q13.2	2007-04-04	2007-04-04		ENSG00000100297	ENSG00000100297			6948	protein-coding gene	gene with protein product		602696	"""minichromosome maintenance deficient (S. cerevisiae) 5 (cell division cycle 46)"", ""MCM5 minichromosome maintenance deficient 5, cell division cycle 46 (S. cerevisiae)"""	CDC46		8751386, 10591208	Standard	NM_006739		Approved		uc003anu.4	P33992	OTTHUMG00000150961	ENST00000216122.4:c.1773C>T	22.37:g.35815946C>T		202	0		384	162	NM_006739	0	0	40	84	44	O60785|Q14578|Q9BTJ4|Q9BWL8	Silent	SNP	ENST00000216122.4	37	CCDS13915.1																																																																																			.		0.652	MCM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320661.3		
APOL6	80830	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	22	36055125	36055125	+	Missense_Mutation	SNP	T	T	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr22:36055125T>A	ENST00000409652.4	+	3	790	c.514T>A	c.(514-516)Tat>Aat	p.Y172N		NM_030641.3	NP_085144.1	Q9BWW8	APOL6_HUMAN	apolipoprotein L, 6	172					lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)			haematopoietic_and_lymphoid_tissue(1)|lung(4)	5						AAAGATTATCTATAATCTTAG	0.493																																					p.Y172N		.											.	APOL6-90	0			c.T514A						.						61.0	62.0	62.0					22																	36055125		2203	4300	6503	SO:0001583	missense	80830	exon3			ATTATCTATAATC	AY014879	CCDS13919.1	22q12.3	2013-01-24			ENSG00000221963	ENSG00000221963		"""Apolipoproteins"""	14870	protein-coding gene	gene with protein product		607256				11374903, 15671246	Standard	NM_030641		Approved	APOL-VI, APOLVI	uc003aoe.3	Q9BWW8	OTTHUMG00000150615	ENST00000409652.4:c.514T>A	22.37:g.36055125T>A	ENSP00000386280:p.Tyr172Asn	55	0		68	35	NM_030641	0	0	3	9	6	Q5R3S1|Q658J1|Q8IXX6|Q9UGG1	Missense_Mutation	SNP	ENST00000409652.4	37	CCDS13919.1	.	.	.	.	.	.	.	.	.	.	T	7.369	0.626440	0.14257	.	.	ENSG00000221963	ENST00000409652	T	0.03124	4.04	4.14	1.89	0.25635	.	2.230900	0.01754	N	0.030103	T	0.04724	0.0128	L	0.36672	1.1	0.09310	N	1	P	0.44241	0.829	B	0.44044	0.439	T	0.36986	-0.9725	10	0.16420	T	0.52	-14.1265	3.6187	0.08087	0.1924:0.1141:0.0:0.6936	.	172	Q9BWW8	APOL6_HUMAN	N	172	ENSP00000386280:Y172N	ENSP00000386280:Y172N	Y	+	1	0	APOL6	34385071	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.038000	0.12144	0.238000	0.21222	0.533000	0.62120	TAT	.		0.493	APOL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319081.2	NM_030641	
FOXRED2	80020	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	22	36902258	36902258	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr22:36902258C>T	ENST00000397224.4	-	2	305	c.212G>A	c.(211-213)cGc>cAc	p.R71H	FOXRED2_ENST00000216187.6_Missense_Mutation_p.R71H|FOXRED2_ENST00000397223.4_Missense_Mutation_p.R71H	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	71			R -> C (in dbSNP:rs56767103).		ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum lumen (GO:0005788)	flavin adenine dinucleotide binding (GO:0050660)|glycoprotein binding (GO:0001948)|oxidoreductase activity (GO:0016491)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CCGCGGGTAGCGTGTGAAGAA	0.667																																					p.R71H		.											.	FOXRED2-92	0			c.G212A						.						75.0	55.0	62.0					22																	36902258		2203	4300	6503	SO:0001583	missense	80020	exon2			GGGTAGCGTGTGA	BC027716	CCDS13929.1	22q12.3	2006-07-05			ENSG00000100350	ENSG00000100350			26264	protein-coding gene	gene with protein product		613777				12477932	Standard	NM_024955		Approved	FLJ23322	uc003app.4	Q8IWF2	OTTHUMG00000044614	ENST00000397224.4:c.212G>A	22.37:g.36902258C>T	ENSP00000380401:p.Arg71His	104	0		166	68	NM_001102371	0	0	14	21	7	B2RDI4|Q8N378|Q96BD1|Q9H5L5|Q9H6M8	Missense_Mutation	SNP	ENST00000397224.4	37	CCDS13929.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.921265	0.52653	.	.	ENSG00000100350	ENST00000397224;ENST00000216187;ENST00000397223;ENST00000423980	T;T;T;T	0.22134	1.97;1.97;1.97;1.97	5.04	3.95	0.45737	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.201070	0.44097	D	0.000489	T	0.15609	0.0376	L	0.40543	1.245	0.30354	N	0.784522	B	0.25667	0.131	B	0.20767	0.031	T	0.05989	-1.0852	10	0.22109	T	0.4	-31.9668	10.4861	0.44722	0.3123:0.6877:0.0:0.0	.	71	Q8IWF2	FXRD2_HUMAN	H	71	ENSP00000380401:R71H;ENSP00000216187:R71H;ENSP00000380400:R71H;ENSP00000409692:R71H	ENSP00000216187:R71H	R	-	2	0	FOXRED2	35232204	1.000000	0.71417	0.997000	0.53966	0.965000	0.64279	1.569000	0.36428	2.337000	0.79520	0.561000	0.74099	CGC	.		0.667	FOXRED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104098.2	NM_024955	
TEX33	339669	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	22	37398216	37398216	+	Missense_Mutation	SNP	G	G	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr22:37398216G>T	ENST00000405091.2	-	4	402	c.151C>A	c.(151-153)Ccc>Acc	p.P51T	TEX33_ENST00000402860.3_5'UTR|TEX33_ENST00000381821.1_Missense_Mutation_p.P51T			O43247	TEX33_HUMAN	testis expressed 33	51																	AGGGGCAGGGGCTGTGGGGAT	0.612																																					p.P51T		.											.	.	0			c.C151A						.						13.0	16.0	15.0					22																	37398216		692	1591	2283	SO:0001583	missense	339669	exon3			GCAGGGGCTGTGG	BC042635	CCDS13937.1, CCDS54524.1	22q12.3	2013-10-11	2012-02-16	2012-02-16	ENSG00000185264	ENSG00000185264			28568	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 33"""	C22orf33		22332119	Standard	NM_178552		Approved	MGC35206, EAN57	uc003aqf.3	O43247	OTTHUMG00000150531	ENST00000405091.2:c.151C>A	22.37:g.37398216G>T	ENSP00000386118:p.Pro51Thr	80	0		94	43	NM_001163857	0	0	0	0	0	B1AH46|Q6ICF2|Q8IVQ2|Q9Y4V8	Missense_Mutation	SNP	ENST00000405091.2	37	CCDS54524.1	.	.	.	.	.	.	.	.	.	.	.	10.17	1.277355	0.23307	.	.	ENSG00000185264	ENST00000405091;ENST00000381821	.	.	.	5.67	1.16	0.20824	.	1.210830	0.06257	N	0.693249	T	0.22820	0.0551	N	0.22421	0.69	0.09310	N	1	B	0.28636	0.218	B	0.25140	0.058	T	0.27905	-1.0060	9	0.62326	D	0.03	.	2.8736	0.05624	0.3839:0.0:0.419:0.1971	.	51	O43247	EAN57_HUMAN	T	51	.	ENSP00000371243:P51T	P	-	1	0	C22orf33	35728162	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.365000	0.07573	-0.012000	0.14223	-0.145000	0.13849	CCC	.		0.612	TEX33-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318778.2	NM_178552	
SSTR3	6753	broad.mit.edu;bcgsc.ca;mdanderson.org	37	22	37602677	37602677	+	Missense_Mutation	SNP	G	G	T	rs386821181		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr22:37602677G>T	ENST00000328544.3	-	2	1699	c.1166C>A	c.(1165-1167)cCc>cAc	p.P389H	SSTR3_ENST00000402501.1_Missense_Mutation_p.P389H	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	389					cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cerebellum development (GO:0021549)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hormone-mediated apoptotic signaling pathway (GO:0008628)|negative regulation of cell proliferation (GO:0008285)|response to starvation (GO:0042594)|somatostatin signaling pathway (GO:0038170)|spermatogenesis (GO:0007283)	ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14					Pasireotide(DB06663)	CACTCTGCTGGGCGGCCGCTC	0.672																																					p.P389H		.											.	SSTR3-522	0			c.C1166A						.						46.0	47.0	47.0					22																	37602677		2203	4300	6503	SO:0001583	missense	6753	exon2			CTGCTGGGCGGCC		CCDS13944.1	22q13.1	2012-08-08			ENSG00000183473	ENSG00000278195		"""GPCR / Class A : Somatostatin receptors"""	11332	protein-coding gene	gene with protein product		182453				8449518	Standard	XM_006724311		Approved		uc003arb.3	P32745	OTTHUMG00000150537	ENST00000328544.3:c.1166C>A	22.37:g.37602677G>T	ENSP00000330138:p.Pro389His	34	1		80	40	NM_001051	0	0	0	0	0	A8K550|Q53ZR7	Missense_Mutation	SNP	ENST00000328544.3	37	CCDS13944.1	.	.	.	.	.	.	.	.	.	.	G	11.44	1.640725	0.29157	.	.	ENSG00000183473	ENST00000328544;ENST00000402501	T;T	0.72835	-0.69;-0.69	5.61	-0.198	0.13224	.	2.005890	0.02043	N	0.049472	T	0.64494	0.2603	L	0.54323	1.7	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.37957	-0.9683	10	0.45353	T	0.12	.	3.9636	0.09421	0.3568:0.0:0.3905:0.2527	.	389	P32745	SSR3_HUMAN	H	389	ENSP00000330138:P389H;ENSP00000384904:P389H	ENSP00000330138:P389H	P	-	2	0	SSTR3	35932623	0.452000	0.25713	0.000000	0.03702	0.786000	0.44442	0.430000	0.21428	-0.167000	0.10871	0.591000	0.81541	CCC	.		0.672	SSTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318802.1		
CARD10	29775	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	22	37891531	37891531	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr22:37891531C>T	ENST00000403299.1	-	16	2582	c.2366G>A	c.(2365-2367)cGc>cAc	p.R789H	CARD10_ENST00000251973.5_Missense_Mutation_p.R789H|CARD10_ENST00000406271.3_Missense_Mutation_p.R503H			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	789					activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein complex assembly (GO:0006461)|regulation of apoptotic process (GO:0042981)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)	receptor signaling complex scaffold activity (GO:0030159)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					CACATTACTGCGGGGGCCTCG	0.607																																					p.R789H		.											.	CARD10-662	0			c.G2366A						.						23.0	24.0	24.0					22																	37891531		2202	4299	6501	SO:0001583	missense	29775	exon15			TTACTGCGGGGGC	AF086324	CCDS13948.1	22q13.1	2008-05-22			ENSG00000100065	ENSG00000100065			16422	protein-coding gene	gene with protein product		607209				11259443, 11356195	Standard	NM_014550		Approved	CARMA3, BIMP1	uc003asu.1	Q9BWT7	OTTHUMG00000150592	ENST00000403299.1:c.2366G>A	22.37:g.37891531C>T	ENSP00000384570:p.Arg789His	41	0		42	19	NM_014550	0	0	0	0	0	Q14CQ8|Q5TFG6|Q8NC81|Q9UGR5|Q9UGR6|Q9Y3H0	Missense_Mutation	SNP	ENST00000403299.1	37	CCDS13948.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.270975	0.80469	.	.	ENSG00000100065	ENST00000403299;ENST00000406271;ENST00000251973;ENST00000437756	T;T;T;T	0.51071	0.72;2.38;0.72;0.94	5.22	5.22	0.72569	.	0.167478	0.38897	N	0.001537	T	0.65281	0.2676	M	0.71036	2.16	0.30954	N	0.724454	D;D	0.89917	1.0;1.0	D;D	0.74674	0.926;0.984	T	0.69960	-0.5003	10	0.87932	D	0	-18.8501	11.4251	0.50004	0.0:0.9138:0.0:0.0862	.	789;503	Q9BWT7;Q8NC81	CAR10_HUMAN;.	H	789;503;789;430	ENSP00000384570:R789H;ENSP00000385799:R503H;ENSP00000251973:R789H;ENSP00000416239:R430H	ENSP00000251973:R789H	R	-	2	0	CARD10	36221477	0.990000	0.36364	0.996000	0.52242	0.972000	0.66771	2.993000	0.49425	2.431000	0.82371	0.555000	0.69702	CGC	.		0.607	CARD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318997.1	NM_014550	
GCAT	23464	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	22	38205970	38205970	+	Intron	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr22:38205970A>G	ENST00000248924.6	+	2	252				GCAT_ENST00000323205.6_Missense_Mutation_p.I71V|GCAT_ENST00000415371.1_Intron	NM_014291.3	NP_055106.1	O75600	KBL_HUMAN	glycine C-acetyltransferase						biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)|L-threonine catabolic process to glycine (GO:0019518)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	glycine C-acetyltransferase activity (GO:0008890)|pyridoxal phosphate binding (GO:0030170)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)	TGGCACTGTCATCTTTCCAGG	0.542																																					p.I71V		.											.	GCAT-90	0			c.A211G						.						84.0	66.0	72.0					22																	38205970		692	1591	2283	SO:0001627	intron_variant	23464	exon2			ACTGTCATCTTTC	AF077740	CCDS13957.1, CCDS54527.1	22q13.1	2010-01-19	2010-01-19		ENSG00000100116	ENSG00000100116	2.3.1.29		4188	protein-coding gene	gene with protein product	"""2-amino-3-ketobutyrate coenzyme A ligase"""	607422	"""glycine C-acetyltransferase (2-amino-3-ketobutyrate coenzyme A ligase)"""				Standard	NM_014291		Approved	KBL	uc003aua.2	O75600	OTTHUMG00000150664	ENST00000248924.6:c.197-64A>G	22.37:g.38205970A>G		116	0		142	61	NM_001171690	0	0	0	0	0	E2QC23|Q6ZWF1|Q96CA9	Missense_Mutation	SNP	ENST00000248924.6	37	CCDS13957.1	.	.	.	.	.	.	.	.	.	.	a	12.80	2.046431	0.36085	.	.	ENSG00000100116	ENST00000323205;ENST00000445195;ENST00000394944	D;T	0.94723	-3.5;-1.43	3.87	-6.4	0.01944	.	.	.	.	.	D	0.82346	0.5017	N	0.03608	-0.345	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.70088	-0.4968	9	0.87932	D	0	.	6.1818	0.20476	0.3162:0.2638:0.42:0.0	.	71	E2QC23	.	V	71	ENSP00000371110:I71V;ENSP00000406719:I71V	ENSP00000371110:I71V	I	+	1	0	GCAT	36535916	0.000000	0.05858	0.000000	0.03702	0.703000	0.40648	-1.263000	0.02850	-1.370000	0.02144	0.260000	0.18958	ATC	.		0.542	GCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319506.1	NM_014291.2	
GALR3	8484	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	22	38221167	38221167	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr22:38221167G>A	ENST00000249041.2	+	2	822	c.797G>A	c.(796-798)aGc>aAc	p.S266N		NM_003614.1	NP_003605.1	O60755	GALR3_HUMAN	galanin receptor 3	266					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|learning or memory (GO:0007611)|negative regulation of adenylate cyclase activity (GO:0007194)|neuropeptide signaling pathway (GO:0007218)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galanin receptor activity (GO:0004966)|peptide hormone binding (GO:0017046)			endometrium(1)|liver(2)|lung(1)	4	Melanoma(58;0.045)					TTCGCCTTCAGCCCGGCCACC	0.721																																					p.S266N		.											.	GALR3-90	0			c.G797A						.						14.0	12.0	12.0					22																	38221167		1851	3655	5506	SO:0001583	missense	8484	exon2			CCTTCAGCCCGGC	AF073799	CCDS13958.1	22q113.1	2012-08-08			ENSG00000128310	ENSG00000128310		"""GPCR / Class A : Galanin receptors"""	4134	protein-coding gene	gene with protein product		603692				9722565, 9832121	Standard	NM_003614		Approved		uc003aub.1	O60755	OTTHUMG00000150658	ENST00000249041.2:c.797G>A	22.37:g.38221167G>A	ENSP00000249041:p.Ser266Asn	15	0		87	35	NM_003614	0	0	0	0	0	Q53YJ4	Missense_Mutation	SNP	ENST00000249041.2	37	CCDS13958.1	.	.	.	.	.	.	.	.	.	.	G	7.906	0.735468	0.15574	.	.	ENSG00000128310	ENST00000249041	T	0.72167	-0.63	4.24	0.209	0.15226	GPCR, rhodopsin-like superfamily (1);	0.101468	0.64402	D	0.000004	T	0.33030	0.0849	N	0.02658	-0.545	0.29701	N	0.840184	B	0.12630	0.006	B	0.10450	0.005	T	0.13953	-1.0490	10	0.11182	T	0.66	.	2.0852	0.03644	0.2925:0.0:0.2122:0.4952	.	266	O60755	GALR3_HUMAN	N	266	ENSP00000249041:S266N	ENSP00000249041:S266N	S	+	2	0	GALR3	36551113	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.760000	0.55235	0.201000	0.20466	0.313000	0.20887	AGC	.		0.721	GALR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319452.1		
TMEM184B	25829	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	22	38620883	38620883	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr22:38620883G>A	ENST00000361906.3	-	8	1099	c.891C>T	c.(889-891)ttC>ttT	p.F297F	TMEM184B_ENST00000361684.4_Silent_p.F297F|TMEM184B_ENST00000504337.1_5'Flank	NM_001195072.1|NM_012264.4	NP_001182001.1|NP_036396.2	Q9Y519	T184B_HUMAN	transmembrane protein 184B	297						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	8	Melanoma(58;0.045)					CACAGATGATGAAGTCCTGGT	0.617																																					p.F297F		.											.	TMEM184B-68	0			c.C891T						.						60.0	48.0	52.0					22																	38620883		2203	4300	6503	SO:0001819	synonymous_variant	25829	exon8			GATGATGAAGTCC	AL096879	CCDS13969.2	22q12	2008-02-04	2007-07-11	2007-07-11	ENSG00000198792	ENSG00000198792			1310	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 5"""	C22orf5		10591208	Standard	NM_012264		Approved	HS5O6A, DKFZP586A1024, FM08	uc003avf.1	Q9Y519	OTTHUMG00000030557	ENST00000361906.3:c.891C>T	22.37:g.38620883G>A		157	1		208	76	NM_001195071	0	0	27	52	25	A8K9D7|Q63HM8|Q7Z421|Q8NBM5|Q9UGT8|Q9UGT9|Q9UGV5	Silent	SNP	ENST00000361906.3	37	CCDS13969.2																																																																																			.		0.617	TMEM184B-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075445.4	NM_012264	
DNAJB7	150353	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	22	41257875	41257877	+	In_Frame_Del	DEL	CTT	CTT	-	rs2269619	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	CTT	CTT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr22:41257875_41257877delCTT	ENST00000307221.4	-	1	253_255	c.122_124delAAG	c.(121-126)gaagca>gca	p.E41del	XPNPEP3_ENST00000482652.1_3'UTR|XPNPEP3_ENST00000414396.1_Intron|XPNPEP3_ENST00000357137.4_Intron|XPNPEP3_ENST00000541156.1_Intron|XPNPEP3_ENST00000544094.1_5'Flank	NM_145174.1	NP_660157.1	Q7Z6W7	DNJB7_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 7	41	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.		E -> A (in dbSNP:rs2269619).				chaperone binding (GO:0051087)			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						TTTCTCTCTGCTTCTTCTTTATT	0.365																																					p.41_42del		.											.	DNAJB7-227	0			c.122_124del						.		,,	10,4254		4,2,2126					,,	4.5	1.0			179	38,8216		18,2,4107	no	coding,intron,utr-3	XPNPEP3,DNAJB7	NM_145174.1,NM_022098.3,NM_001204827.1	,,	22,4,6233	A1A1,A1R,RR		0.4604,0.2345,0.3834	,,	,,		48,12470				SO:0001651	inframe_deletion	150353	exon1			TCTCTGCTTCTTC	AF085232	CCDS14008.1	22q13.2	2011-09-02			ENSG00000172404	ENSG00000172404		"""Heat shock proteins / DNAJ (HSP40)"""	24986	protein-coding gene	gene with protein product		611336				12477932	Standard	NM_145174		Approved	HSC3	uc003azj.3	Q7Z6W7	OTTHUMG00000151202	ENST00000307221.4:c.122_124delAAG	22.37:g.41257881_41257883delCTT	ENSP00000307197:p.Glu41del	58	0		51	17	NM_145174	0	0	0	0	0	Q2M220|Q5H904|Q8WYJ7	In_Frame_Del	DEL	ENST00000307221.4	37	CCDS14008.1																																																																																			.		0.365	DNAJB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321765.1	NM_145174	
L3MBTL2	83746	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	22	41621937	41621937	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr22:41621937C>T	ENST00000216237.5	+	12	1654	c.1496C>T	c.(1495-1497)cCg>cTg	p.P499L		NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	499					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.P499L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GAGCTCACACCGCCAAAAGGT	0.587																																					p.P499L		.											.	L3MBTL2-92	1	Substitution - Missense(1)	skin(1)	c.C1496T						.						82.0	61.0	68.0					22																	41621937		2203	4300	6503	SO:0001583	missense	83746	exon12			TCACACCGCCAAA	AJ305226	CCDS14011.1	22q13.31-q13.33	2008-06-11			ENSG00000100395	ENSG00000100395			18594	protein-coding gene	gene with protein product		611865				11682070	Standard	NM_031488		Approved	H-l(3)mbt-l, DKFZP761I141, dJ756G23.3	uc003azo.3	Q969R5	OTTHUMG00000150942	ENST00000216237.5:c.1496C>T	22.37:g.41621937C>T	ENSP00000216237:p.Pro499Leu	81	0		87	35	NM_031488	0	0	1	1	0	Q8TEN1|Q96SC4|Q9BQI2|Q9UGS4	Missense_Mutation	SNP	ENST00000216237.5	37	CCDS14011.1	.	.	.	.	.	.	.	.	.	.	C	15.93	2.977291	0.53720	.	.	ENSG00000100395	ENST00000216237	T	0.41065	1.01	4.97	2.88	0.33553	.	0.290799	0.39759	N	0.001280	T	0.60104	0.2243	M	0.90309	3.105	0.19575	N	0.999968	P;D	0.64830	0.666;0.994	B;P	0.59171	0.054;0.853	T	0.55630	-0.8111	10	0.87932	D	0	.	4.7514	0.13063	0.1505:0.6108:0.0:0.2387	.	499;499	Q969R5-3;Q969R5	.;LMBL2_HUMAN	L	499	ENSP00000216237:P499L	ENSP00000216237:P499L	P	+	2	0	L3MBTL2	39951883	0.126000	0.22350	0.447000	0.26932	0.831000	0.47069	1.314000	0.33597	0.503000	0.28060	0.561000	0.74099	CCG	.		0.587	L3MBTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320613.1	NM_031488	
CHADL	150356	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	22	41631316	41631316	+	Missense_Mutation	SNP	C	C	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr22:41631316C>A	ENST00000216241.9	-	5	2147	c.2095G>T	c.(2095-2097)Gcc>Tcc	p.A699S		NM_138481.1	NP_612490.1	Q6NUI6	CHADL_HUMAN	chondroadherin-like	699	LRRCT 2.					proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(1)|skin(1)	4						GCGCAGGTGGCCCCCACCCGC	0.642																																					p.A699S		.											.	CHADL-68	0			c.G2095T						.						9.0	11.0	10.0					22																	41631316		692	1589	2281	SO:0001583	missense	150356	exon5			AGGTGGCCCCCAC	BC012882	CCDS46715.1	22q13.2	2008-10-31			ENSG00000100399	ENSG00000100399			25165	protein-coding gene	gene with protein product						12477932	Standard	NM_138481		Approved	SLRR4B	uc003azq.4	Q6NUI6	OTTHUMG00000150936	ENST00000216241.9:c.2095G>T	22.37:g.41631316C>A	ENSP00000216241:p.Ala699Ser	16	0		38	16	NM_138481	0	0	0	0	0	Q05CY2|Q4G0S0|Q5JY13|Q86XY1|Q96E60	Missense_Mutation	SNP	ENST00000216241.9	37	CCDS46715.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.415019	0.83449	.	.	ENSG00000100399	ENST00000216241;ENST00000455425	T;T	0.58797	0.31;0.68	5.93	5.93	0.95920	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.80909	0.4714	M	0.87456	2.885	0.58432	D	0.999991	D	0.89917	1.0	D	0.91635	0.999	T	0.81380	-0.0959	10	0.52906	T	0.07	.	20.4083	0.99013	0.0:1.0:0.0:0.0	.	699	Q6NUI6	CHADL_HUMAN	S	699;196	ENSP00000216241:A699S;ENSP00000412359:A196S	ENSP00000216241:A699S	A	-	1	0	CHADL	39961262	1.000000	0.71417	1.000000	0.80357	0.375000	0.29983	6.775000	0.75018	2.833000	0.97629	0.650000	0.86243	GCC	.		0.642	CHADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320597.1	NM_138481	
FAM109B	150368	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	22	42473559	42473559	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr22:42473559G>A	ENST00000321753.3	+	3	449	c.262G>A	c.(262-264)Gcc>Acc	p.A88T	snoU13_ENST00000458891.1_RNA|SMDT1_ENST00000331479.3_5'Flank	NM_001002034.2	NP_001002034.2	Q6ICB4	SESQ2_HUMAN	family with sequence similarity 109, member B	88	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				endosome organization (GO:0007032)|receptor recycling (GO:0001881)|retrograde transport, endosome to Golgi (GO:0042147)	clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(2)|liver(2)|lung(1)|prostate(1)	8						GTTTGCCTTTGCCATCTGCTT	0.677																																					p.A88T		.											.	FAM109B-90	0			c.G262A						.						81.0	86.0	84.0					22																	42473559		2203	4300	6503	SO:0001583	missense	150368	exon3			GCCTTTGCCATCT	BX648402	CCDS33655.1	22q13.2	2013-01-10			ENSG00000177096	ENSG00000177096		"""Pleckstrin homology (PH) domain containing"""	27161	protein-coding gene	gene with protein product		614240				12477932	Standard	NM_001002034		Approved	DKFZp686J07229	uc003bbz.3	Q6ICB4	OTTHUMG00000151285	ENST00000321753.3:c.262G>A	22.37:g.42473559G>A	ENSP00000312753:p.Ala88Thr	79	0		110	46	NM_001002034	0	0	1	1	0	Q3SXQ3|Q8N6L9	Missense_Mutation	SNP	ENST00000321753.3	37	CCDS33655.1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.620773	0.46736	.	.	ENSG00000177096	ENST00000321753;ENST00000419475	T;T	0.74106	-0.81;-0.81	4.92	3.87	0.44632	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.180371	0.48286	D	0.000185	T	0.79221	0.4409	L	0.49126	1.545	0.44048	D	0.996782	D	0.76494	0.999	D	0.71184	0.972	T	0.75039	-0.3458	10	0.26408	T	0.33	-7.4131	10.1139	0.42579	0.0:0.1494:0.6957:0.155	.	88	Q6ICB4	SESQ2_HUMAN	T	88	ENSP00000312753:A88T;ENSP00000396170:A88T	ENSP00000312753:A88T	A	+	1	0	FAM109B	40803505	1.000000	0.71417	0.996000	0.52242	0.789000	0.44602	5.620000	0.67736	1.004000	0.39156	0.591000	0.81541	GCC	.		0.677	FAM109B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322084.1	NM_001002034	
A4GALT	53947	hgsc.bcm.edu;broad.mit.edu	37	22	43089757	43089757	+	Frame_Shift_Del	DEL	G	G	-	rs200094764		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr22:43089757delG	ENST00000401850.1	-	2	690	c.201delC	c.(199-201)cccfs	p.P67fs	A4GALT_ENST00000381278.3_Frame_Shift_Del_p.P67fs|A4GALT_ENST00000249005.2_Frame_Shift_Del_p.P67fs|A4GALT_ENST00000465765.2_5'Flank			Q9NPC4	A4GAT_HUMAN	alpha 1,4-galactosyltransferase	67					globoside biosynthetic process (GO:0001576)|glycosphingolipid biosynthetic process (GO:0006688)|plasma membrane organization (GO:0007009)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	galactosyltransferase activity (GO:0008378)|lactosylceramide 4-alpha-galactosyltransferase activity (GO:0050512)|toxic substance binding (GO:0015643)	p.T68fs*46(1)		NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1)	11						AGGGTGGGGTGGGGGGTGTCA	0.597																																					p.P67fs		.											.	A4GALT-90	1	Deletion - Frameshift(1)	large_intestine(1)	c.201delC						.						13.0	14.0	14.0					22																	43089757		2194	4287	6481	SO:0001589	frameshift_variant	53947	exon3			TGGGGTGGGGGGT		CCDS14041.1	22q13.2	2014-07-18	2008-07-31		ENSG00000128274	ENSG00000128274	2.4.1.228		18149	protein-coding gene	gene with protein product	"""Gb3 synthase"", ""CD77 synthase"", ""globotriaosylceramide synthase"", ""lactosylceramide 4-alpha-galactosyltransferase"""	607922	"""alpha 1,4-galactosyltransferase (globotriaosylceramide synthase, P blood group)"""			10854428	Standard	XM_005261643		Approved	A14GALT, Gb3S, P(k)	uc003bdb.3	Q9NPC4	OTTHUMG00000150744	ENST00000401850.1:c.201delC	22.37:g.43089757delG	ENSP00000384794:p.Pro67fs	19	0		36	17	NM_017436	0	0	0	0	0	B2R7C4|Q9P1X5	Frame_Shift_Del	DEL	ENST00000401850.1	37	CCDS14041.1																																																																																			.		0.597	A4GALT-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319917.1	NM_017436	
PPARA	5465	broad.mit.edu;ucsc.edu;bcgsc.ca	37	22	46627995	46627995	+	Missense_Mutation	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr22:46627995A>G	ENST00000396000.2	+	7	1283	c.1018A>G	c.(1018-1020)Act>Gct	p.T340A	PPARA_ENST00000407236.1_Missense_Mutation_p.T340A|PPARA_ENST00000262735.5_Missense_Mutation_p.T340A|PPARA_ENST00000434345.2_3'UTR|PPARA_ENST00000402126.1_Missense_Mutation_p.T340A			Q07869	PPARA_HUMAN	peroxisome proliferator-activated receptor alpha	340	Ligand-binding.|Required for heterodimerization with RXRA.				behavioral response to nicotine (GO:0035095)|cellular lipid metabolic process (GO:0044255)|circadian regulation of gene expression (GO:0032922)|enamel mineralization (GO:0070166)|epidermis development (GO:0008544)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular receptor signaling pathway (GO:0030522)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|negative regulation of appetite (GO:0032099)|negative regulation of blood pressure (GO:0045776)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of glycolytic process (GO:0045820)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of sequestering of triglyceride (GO:0010891)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular ketone metabolic process by positive regulation of transcription from RNA polymerase II promoter (GO:0072366)|regulation of circadian rhythm (GO:0042752)|regulation of glycolytic by positive regulation of transcription from RNA polymerase II promoter (GO:0072363)|regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter (GO:0072369)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|wound healing (GO:0042060)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|lipid binding (GO:0008289)|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 repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Indomethacin(DB00328)	TGGGTTTATAACTCGTGAATT	0.423																																					p.T340A		.											.	PPARA-611	0			c.A1018G						.						198.0	182.0	187.0					22																	46627995		2203	4300	6503	SO:0001583	missense	5465	exon7			TTTATAACTCGTG	L02932	CCDS33669.1	22q12-q13.1	2013-01-16	2006-10-17		ENSG00000186951	ENSG00000186951		"""Nuclear hormone receptors"""	9232	protein-coding gene	gene with protein product		170998	"""peroxisome proliferative activated receptor, alpha"""	PPAR		7684926, 10591208	Standard	XM_005261655		Approved	hPPAR, NR1C1	uc003bgx.1	Q07869	OTTHUMG00000150443	ENST00000396000.2:c.1018A>G	22.37:g.46627995A>G	ENSP00000379322:p.Thr340Ala	208	2		243	100	NM_001001928	0	0	1	3	2	B0G0X3|Q16241|Q6I9S0|Q92486|Q92689|Q9Y3N1	Missense_Mutation	SNP	ENST00000396000.2	37	CCDS33669.1	.	.	.	.	.	.	.	.	.	.	A	17.42	3.385641	0.61956	.	.	ENSG00000186951	ENST00000396000;ENST00000262735;ENST00000535613;ENST00000407236;ENST00000402126	D;D;D;D	0.96491	-4.03;-4.03;-4.03;-4.03	5.48	5.48	0.80851	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.97952	0.9326	M	0.81239	2.535	0.80722	D	1	D;D	0.89917	0.976;1.0	P;D	0.91635	0.842;0.999	D	0.98574	1.0647	10	0.59425	D	0.04	.	14.7735	0.69699	1.0:0.0:0.0:0.0	.	121;340	F5H1U1;Q07869	.;PPARA_HUMAN	A	340;340;121;340;340	ENSP00000379322:T340A;ENSP00000262735:T340A;ENSP00000385523:T340A;ENSP00000385246:T340A	ENSP00000262735:T340A	T	+	1	0	PPARA	45006659	1.000000	0.71417	0.096000	0.21009	0.180000	0.23129	9.117000	0.94347	2.084000	0.62774	0.533000	0.62120	ACT	.		0.423	PPARA-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318129.3	NM_001001928	
PKDREJ	10343	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	22	46654833	46654833	+	Missense_Mutation	SNP	A	A	G	rs543952987		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr22:46654833A>G	ENST00000253255.5	-	1	4386	c.4387T>C	c.(4387-4389)Tct>Cct	p.S1463P		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1463					acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TTTTGAGGAGATACCTCCTTT	0.423																																					p.S1463P		.											.	PKDREJ-156	0			c.T4387C						.						107.0	100.0	102.0					22																	46654833		2203	4300	6503	SO:0001583	missense	10343	exon1			GAGGAGATACCTC	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.4387T>C	22.37:g.46654833A>G	ENSP00000253255:p.Ser1463Pro	91	1		100	29	NM_006071	0	0	0	0	0	B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	A	10.30	1.313025	0.23908	.	.	ENSG00000130943	ENST00000253255	T	0.36520	1.25	4.84	-9.55	0.00569	.	0.993298	0.08162	N	0.988314	T	0.20414	0.0491	L	0.40543	1.245	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.16689	-1.0394	10	0.35671	T	0.21	-2.61	5.0514	0.14511	0.6133:0.1582:0.0929:0.1355	.	1463	Q9NTG1	PKDRE_HUMAN	P	1463	ENSP00000253255:S1463P	ENSP00000253255:S1463P	S	-	1	0	PKDREJ	45033497	0.000000	0.05858	0.000000	0.03702	0.103000	0.19146	-3.552000	0.00433	-1.833000	0.01195	0.459000	0.35465	TCT	.		0.423	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071	
PKDREJ	10343	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	22	46657944	46657944	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr22:46657944C>T	ENST00000253255.5	-	1	1275	c.1276G>A	c.(1276-1278)Gac>Aac	p.D426N		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	426	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TACACGTGGTCGCCTTTAAGT	0.532																																					p.D426N		.											.	PKDREJ-156	0			c.G1276A						.						101.0	101.0	101.0					22																	46657944		2203	4300	6503	SO:0001583	missense	10343	exon1			CGTGGTCGCCTTT	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.1276G>A	22.37:g.46657944C>T	ENSP00000253255:p.Asp426Asn	111	0		140	73	NM_006071	0	0	0	0	0	B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	C	6.145	0.395041	0.11638	.	.	ENSG00000130943	ENST00000253255	T	0.65732	-0.17	5.17	-2.34	0.06704	Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);	1.308880	0.04933	N	0.457254	T	0.32224	0.0822	N	0.04508	-0.205	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.33954	-0.9848	10	0.02654	T	1	-1.3743	7.2188	0.25975	0.0:0.4467:0.1154:0.4379	.	426	Q9NTG1	PKDRE_HUMAN	N	426	ENSP00000253255:D426N	ENSP00000253255:D426N	D	-	1	0	PKDREJ	45036608	0.000000	0.05858	0.000000	0.03702	0.439000	0.31926	-0.155000	0.10115	-0.207000	0.10187	0.650000	0.86243	GAC	.		0.532	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071	
PKDREJ	10343	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	22	46658470	46658470	+	Silent	SNP	C	C	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr22:46658470C>G	ENST00000253255.5	-	1	749	c.750G>C	c.(748-750)ccG>ccC	p.P250P		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	250	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CGCGCGCGGCCGGGCAGTCCA	0.706																																					p.P250P		.											.	PKDREJ-156	0			c.G750C						.						24.0	28.0	26.0					22																	46658470		2199	4295	6494	SO:0001819	synonymous_variant	10343	exon1			CGCGGCCGGGCAG	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.750G>C	22.37:g.46658470C>G		15	0		175	79	NM_006071	0	0	0	0	0	B1AJY3|O95850	Silent	SNP	ENST00000253255.5	37	CCDS14073.1																																																																																			.		0.706	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071	
CELSR1	9620	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	22	46835094	46835094	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr22:46835094G>A	ENST00000262738.3	-	3	4397	c.4398C>T	c.(4396-4398)atC>atT	p.I1466I		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1466	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		ACGTGAGGGAGATGGTGAAGT	0.627																																					p.I1466I		.											.	CELSR1-525	0			c.C4398T						.																																			SO:0001819	synonymous_variant	9620	exon3			GAGGGAGATGGTG	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.4398C>T	22.37:g.46835094G>A		122	0		156	59	NM_014246	0	0	0	0	0	O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Silent	SNP	ENST00000262738.3	37	CCDS14076.1																																																																																			.		0.627	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246	
CELSR1	9620	broad.mit.edu;ucsc.edu;bcgsc.ca	37	22	46931004	46931004	+	Silent	SNP	C	C	T	rs200980756		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr22:46931004C>T	ENST00000262738.3	-	1	2063	c.2064G>A	c.(2062-2064)acG>acA	p.T688T	CELSR1_ENST00000395964.1_Silent_p.T688T|CELSR1_ENST00000497509.1_5'Flank	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	688	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		AGGTGGGCTGCGTGAACACCG	0.652													C|||	1	0.000199681	0.0	0.0	5008	,	,		17979	0.0		0.001	False		,,,				2504	0.0				p.T688T		.											.	CELSR1-525	0			c.G2064A						.						44.0	28.0	34.0					22																	46931004		2201	4298	6499	SO:0001819	synonymous_variant	9620	exon1			GGGCTGCGTGAAC	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.2064G>A	22.37:g.46931004C>T		69	1		84	36	NM_014246	0	0	0	0	0	O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Silent	SNP	ENST00000262738.3	37	CCDS14076.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	4.695	0.129207	0.08981	.	.	ENSG00000075275	ENST00000454637	.	.	.	4.51	-0.933	0.10431	.	.	.	.	.	T	0.57873	0.2083	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55055	-0.8200	4	.	.	.	.	11.1751	0.48595	0.1638:0.2137:0.6226:0.0	.	.	.	.	H	63	.	.	R	-	2	0	CELSR1	45309668	0.000000	0.05858	0.999000	0.59377	0.627000	0.37826	-3.293000	0.00523	0.007000	0.14760	0.305000	0.20034	CGC	C|0.999;T|0.000		0.652	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246	
TRABD	80305	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	22	50636363	50636363	+	Silent	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr22:50636363C>T	ENST00000303434.4	+	8	902	c.783C>T	c.(781-783)gtC>gtT	p.V261V	RP3-402G11.26_ENST00000608025.1_RNA|TRABD_ENST00000380909.4_Silent_p.V261V|TRABD_ENST00000395827.1_Silent_p.V261V|TRABD_ENST00000395829.1_Silent_p.V261V	NM_025204.2	NP_079480.2	Q9H4I3	TRABD_HUMAN	TraB domain containing	261										breast(1)|central_nervous_system(1)|large_intestine(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	7		all_cancers(38;1.07e-07)|all_epithelial(38;9.6e-07)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		LUAD - Lung adenocarcinoma(64;0.105)		AGCGCGACGTCTACCTAACCT	0.667																																					p.V261V		.											.	TRABD-90	0			c.C783T						.						131.0	100.0	111.0					22																	50636363		2203	4300	6503	SO:0001819	synonymous_variant	80305	exon8			CGACGTCTACCTA	AL449244	CCDS14086.1	22q13.33	2006-07-06			ENSG00000170638	ENSG00000170638			28805	protein-coding gene	gene with protein product						12477932	Standard	NM_025204		Approved	PP2447	uc003bjs.1	Q9H4I3	OTTHUMG00000044644	ENST00000303434.4:c.783C>T	22.37:g.50636363C>T		62	0		144	69	NM_025204	0	0	9	21	12	Q19CC5|Q96ED8|Q9H7N1|Q9UGX6|Q9UGX7	Silent	SNP	ENST00000303434.4	37	CCDS14086.1																																																																																			.		0.667	TRABD-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316987.1	NM_025204	
MAPK11	5600	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	22	50705599	50705599	+	Missense_Mutation	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr22:50705599A>G	ENST00000330651.6	-	6	552	c.452T>C	c.(451-453)cTg>cCg	p.L151P	MAPK11_ENST00000449719.2_Missense_Mutation_p.L43P|MAPK11_ENST00000495277.1_5'UTR	NM_002751.5	NP_002742.3	Q15759	MK11_HUMAN	mitogen-activated protein kinase 11	151	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|gene expression (GO:0010467)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mRNA metabolic process (GO:0016071)|muscle cell differentiation (GO:0042692)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of muscle cell differentiation (GO:0051149)|Ras protein signal transduction (GO:0007265)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|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)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|lung(4)	6		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Regorafenib(DB08896)	GCTGGGCTTCAGGTCCTGCAG	0.701																																					p.L151P	GBM(9;634 739 50668)	.											.	MAPK11-1402	0			c.T452C						.						34.0	34.0	34.0					22																	50705599		2201	4296	6497	SO:0001583	missense	5600	exon6			GGCTTCAGGTCCT	Y14440	CCDS14090.1	22q13.33	2011-06-09			ENSG00000185386	ENSG00000185386	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6873	protein-coding gene	gene with protein product		602898		PRKM11		9218798	Standard	NM_002751		Approved	p38-2, p38Beta, SAPK2	uc003bkr.3	Q15759	OTTHUMG00000150226	ENST00000330651.6:c.452T>C	22.37:g.50705599A>G	ENSP00000333685:p.Leu151Pro	51	0		146	55	NM_002751	0	0	0	0	0	A8K730|B0LPG1|B7Z630|E7ETQ1|L7RT27|O00284|O15472|Q2XNF2	Missense_Mutation	SNP	ENST00000330651.6	37	CCDS14090.1	.	.	.	.	.	.	.	.	.	.	a	26.8	4.775852	0.90195	.	.	ENSG00000185386	ENST00000330651;ENST00000449719	T;T	0.28069	1.63;1.63	4.84	4.84	0.62591	Serine/threonine-protein kinase-like domain (1);MAP kinase, conserved site (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	U	0.000009	T	0.71508	0.3348	H	0.99058	4.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.83604	0.0130	10	0.87932	D	0	-12.7967	13.7384	0.62833	1.0:0.0:0.0:0.0	.	43;151	B7Z630;Q15759	.;MK11_HUMAN	P	151;43	ENSP00000333685:L151P;ENSP00000406921:L43P	ENSP00000333685:L151P	L	-	2	0	MAPK11	49047726	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	6.866000	0.75506	1.976000	0.57569	0.439000	0.28862	CTG	.		0.701	MAPK11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316900.1		
SHANK3	85358	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	22	51160574	51160574	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr22:51160574C>T	ENST00000414786.2	+	21	4498	c.4271C>T	c.(4270-4272)tCg>tTg	p.S1424L	SHANK3_ENST00000262795.3_Missense_Mutation_p.S1454L|SHANK3_ENST00000445220.2_Missense_Mutation_p.S1440L			Q9BYB0	SHAN3_HUMAN	SH3 and multiple ankyrin repeat domains 3	1438					adult behavior (GO:0030534)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|brain morphogenesis (GO:0048854)|dendritic spine morphogenesis (GO:0060997)|guanylate kinase-associated protein clustering (GO:0097117)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell volume (GO:0045794)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glutamate receptor signaling pathway (GO:1900451)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse structural plasticity (GO:0051835)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density assembly (GO:0097107)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of long term synaptic depression (GO:1900452)|regulation of long-term synaptic potentiation (GO:1900271)|social behavior (GO:0035176)|striatal medium spiny neuron differentiation (GO:0021773)|synapse assembly (GO:0007416)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		AAGCAGTCCTCGGACAGCGAG	0.682																																					p.S1424L		.											.	SHANK3-69	0			c.C4271T						.						16.0	21.0	19.0					22																	51160574		2088	4207	6295	SO:0001583	missense	85358	exon21			AGTCCTCGGACAG	AB051437		22q13.3	2013-11-14			ENSG00000251322	ENSG00000251322		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14294	protein-coding gene	gene with protein product	"""proline rich synapse associated protein 2"", ""shank postsynaptic density protein"""	606230				11258795, 11431708, 10806096, 17173049	Standard	NM_033517		Approved	SPANK-2, prosap2, KIAA1650, PSAP2	uc031ryd.1	Q9BYB0	OTTHUMG00000150169	ENST00000414786.2:c.4271C>T	22.37:g.51160574C>T	ENSP00000464552:p.Ser1424Leu	18	0		71	30	NM_033517	0	0	3	13	10	D7UT47|Q8TET3	Missense_Mutation	SNP	ENST00000414786.2	37		.	.	.	.	.	.	.	.	.	.	C	20.2	3.952753	0.73787	.	.	ENSG00000251322	ENST00000262795;ENST00000445220	T;T	0.17054	2.3;2.3	5.29	5.29	0.74685	.	0.063127	0.64402	N	0.000003	T	0.36358	0.0964	L	0.55481	1.735	0.39070	D	0.960693	D;D;D	0.89917	1.0;0.997;1.0	D;D;D	0.79108	0.991;0.968;0.992	T	0.04454	-1.0950	10	0.27082	T	0.32	.	16.4399	0.83896	0.0:1.0:0.0:0.0	.	1438;1439;1454	D7UT47;Q9BYB0;F2Z3L0	.;SHAN3_HUMAN;.	L	1454;1440	ENSP00000442518:S1454L;ENSP00000446078:S1440L	ENSP00000442518:S1454L	S	+	2	0	SHANK3	49507440	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.453000	0.60061	2.483000	0.83821	0.462000	0.41574	TCG	.		0.682	SHANK3-001	KNOWN	non_canonical_polymorphism|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000316674.2	NM_001080420	
SETD5	55209	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	9488930	9488930	+	Missense_Mutation	SNP	T	T	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:9488930T>A	ENST00000406341.1	+	13	1911	c.1721T>A	c.(1720-1722)gTt>gAt	p.V574D	SETD5_ENST00000402198.1_Missense_Mutation_p.V574D|SETD5_ENST00000302463.6_Missense_Mutation_p.V476D|SETD5_ENST00000402466.1_Missense_Mutation_p.V476D|SETD5_ENST00000407969.1_Missense_Mutation_p.V593D			Q9C0A6	SETD5_HUMAN	SET domain containing 5	574										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		GTTTCAAATGTTACCATCCCA	0.463																																					p.V574D		.											.	SETD5-70	0			c.T1721A						.						131.0	131.0	131.0					3																	9488930		1855	4105	5960	SO:0001583	missense	55209	exon14			CAAATGTTACCAT	BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.1721T>A	3.37:g.9488930T>A	ENSP00000383939:p.Val574Asp	82	0		50	46	NM_001080517	0	0	0	8	8	Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Missense_Mutation	SNP	ENST00000406341.1	37	CCDS46741.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	7.811|7.811	0.715764|0.715764	0.15306|0.15306	.|.	.|.	ENSG00000168137|ENSG00000168137	ENST00000399686|ENST00000402198;ENST00000402466;ENST00000406341;ENST00000407969;ENST00000302463	.|D;D;D;D;D	.|0.92099	.|-2.64;-2.97;-2.64;-2.63;-2.97	5.7|5.7	4.53|4.53	0.55603|0.55603	.|.	.|0.985279	.|0.08292	.|N	.|0.968223	.|D	.|0.87966	.|0.6311	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	0.999998|0.999998	.|B;B;B;B	.|0.18610	.|0.029;0.023;0.005;0.005	.|B;B;B;B	.|0.23275	.|0.045;0.026;0.015;0.007	.|T	.|0.77859	.|-0.2431	.|10	.|0.62326	.|D	.|0.03	0.0496|0.0496	6.4713|6.4713	0.22009|0.22009	0.0:0.2269:0.0:0.7731|0.0:0.2269:0.0:0.7731	.|.	.|243;476;574;593	.|B3KXG4;Q9C0A6-3;Q9C0A6;E7EWN3	.|.;.;SETD5_HUMAN;.	X|D	241|574;476;574;593;476	.|ENSP00000385852:V574D;ENSP00000384429:V476D;ENSP00000383939:V574D;ENSP00000384114:V593D;ENSP00000302028:V476D	.|ENSP00000302028:V476D	C|V	+|+	3|2	2|0	SETD5|SETD5	9463930|9463930	0.032000|0.032000	0.19561|0.19561	0.001000|0.001000	0.08648|0.08648	0.231000|0.231000	0.25187|0.25187	1.068000|1.068000	0.30629|0.30629	0.970000|0.970000	0.38263|0.38263	0.533000|0.533000	0.62120|0.62120	TGT|GTT	.		0.463	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	XM_371614	
RFTN1	23180	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	16475383	16475383	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:16475383C>T	ENST00000334133.4	-	3	579	c.307G>A	c.(307-309)Gcc>Acc	p.A103T	RFTN1_ENST00000432519.1_Missense_Mutation_p.A67T	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	103					B cell receptor signaling pathway (GO:0050853)|dsRNA transport (GO:0033227)|growth (GO:0040007)|interleukin-17 production (GO:0032620)|membrane raft assembly (GO:0001765)|protein localization to membrane raft (GO:1903044)|protein transport into membrane raft (GO:0032596)|response to exogenous dsRNA (GO:0043330)|T cell antigen processing and presentation (GO:0002457)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 3 signaling pathway (GO:0034138)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	double-stranded RNA binding (GO:0003725)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						ATCAGGATGGCTCTAAAGATG	0.587																																					p.A103T		.											.	RFTN1-93	0			c.G307A						.						152.0	159.0	157.0					3																	16475383		2203	4300	6503	SO:0001583	missense	23180	exon3			GGATGGCTCTAAA	D42043	CCDS33712.1	3p24.3	2010-04-09			ENSG00000131378	ENSG00000131378			30278	protein-coding gene	gene with protein product	"""raft-linking protein"""					7788527, 12805216	Standard	NM_015150		Approved	MIG2, KIAA0084, FLJ23866, Raftlin	uc003cay.3	Q14699	OTTHUMG00000156973	ENST00000334133.4:c.307G>A	3.37:g.16475383C>T	ENSP00000334153:p.Ala103Thr	162	0		101	80	NM_015150	0	0	10	11	1	Q0D2G0|Q496Y2|Q4QQI7|Q5JB48|Q7Z7P2	Missense_Mutation	SNP	ENST00000334133.4	37	CCDS33712.1	.	.	.	.	.	.	.	.	.	.	C	33	5.262749	0.95399	.	.	ENSG00000131378	ENST00000432519;ENST00000334133;ENST00000451036;ENST00000449415;ENST00000441460;ENST00000431547	T;T;T;T;T;T	0.35973	1.28;1.28;1.28;1.28;1.28;1.28	5.54	5.54	0.83059	.	0.053928	0.85682	D	0.000000	T	0.63117	0.2484	M	0.76328	2.33	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.65606	-0.6127	10	0.72032	D	0.01	-27.8763	19.0704	0.93134	0.0:1.0:0.0:0.0	.	67;103	G3XAJ6;Q14699	.;RFTN1_HUMAN	T	67;103;103;103;103;103	ENSP00000403926:A67T;ENSP00000334153:A103T;ENSP00000403997:A103T;ENSP00000409427:A103T;ENSP00000388718:A103T;ENSP00000393216:A103T	ENSP00000334153:A103T	A	-	1	0	RFTN1	16450387	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	6.801000	0.75170	2.607000	0.88179	0.561000	0.74099	GCC	.		0.587	RFTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346908.1	NM_015150	
RBMS3	27303	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	29941226	29941226	+	Missense_Mutation	SNP	C	C	T	rs202069394		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:29941226C>T	ENST00000383767.2	+	10	1255	c.919C>T	c.(919-921)Cca>Tca	p.P307S	RBMS3_ENST00000273139.9_Missense_Mutation_p.P307S|RBMS3_ENST00000452462.1_Missense_Mutation_p.P307S|RBMS3_ENST00000434693.2_Missense_Mutation_p.P306S|RBMS3_ENST00000383766.2_Intron|RBMS3_ENST00000456853.1_Missense_Mutation_p.P320S|RBMS3_ENST00000396583.3_Missense_Mutation_p.P320S			Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting protein 3	307					positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				GCCTCATCCGCCATACGTTAT	0.413													C|||	1	0.000199681	0.0	0.0	5008	,	,		18021	0.0		0.001	False		,,,				2504	0.0				p.P320S		.											.	RBMS3-90	0			c.C958T						.						162.0	139.0	147.0					3																	29941226		2203	4299	6502	SO:0001583	missense	27303	exon11			CATCCGCCATACG	AF023259	CCDS33724.1, CCDS33725.1, CCDS33726.1, CCDS54557.1, CCDS54558.1	3p24-p23	2013-02-12	2010-04-20		ENSG00000144642	ENSG00000144642		"""RNA binding motif (RRM) containing"""	13427	protein-coding gene	gene with protein product	"""RNA-binding protein"""	605786	"""RNA binding motif, single stranded interacting protein"""			10675610	Standard	NM_001003793		Approved		uc003cel.3	Q6XE24	OTTHUMG00000155699	ENST00000383767.2:c.919C>T	3.37:g.29941226C>T	ENSP00000373277:p.Pro307Ser	54	0		46	28	NM_001177712	0	0	1	1	0	A8K9S4|B7ZL17|G5E9J9|O75876|Q17RI0|Q6XE23	Missense_Mutation	SNP	ENST00000383767.2	37	CCDS33724.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	12.57	1.978060	0.34942	.	.	ENSG00000144642	ENST00000434693;ENST00000396583;ENST00000383767;ENST00000273139;ENST00000452462;ENST00000456853	T;T;T;T;T;T	0.28069	1.65;1.67;1.68;1.66;1.66;1.63	5.75	4.88	0.63580	.	0.052981	0.85682	D	0.000000	T	0.16642	0.0400	N	0.10972	0.075	0.36376	D	0.861632	B;B;B	0.13145	0.007;0.007;0.004	B;B;B	0.20767	0.017;0.031;0.004	T	0.15896	-1.0421	9	.	.	.	.	11.6768	0.51434	0.0:0.8588:0.0:0.1412	.	307;320;307	G5E9J9;Q6XE24-2;Q6XE24	.;.;RBMS3_HUMAN	S	306;320;307;307;307;320	ENSP00000395592:P306S;ENSP00000379828:P320S;ENSP00000373277:P307S;ENSP00000273139:P307S;ENSP00000397926:P307S;ENSP00000400519:P320S	.	P	+	1	0	RBMS3	29916230	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	6.032000	0.70918	1.435000	0.47434	0.655000	0.94253	CCA	C|0.999;T|0.000		0.413	RBMS3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341306.1	NM_001003792	
GADL1	339896	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	30903251	30903251	+	Missense_Mutation	SNP	A	A	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:30903251A>T	ENST00000282538.5	-	2	194	c.44T>A	c.(43-45)aTt>aAt	p.I15N	GADL1_ENST00000454381.3_Missense_Mutation_p.I15N	NM_207359.2	NP_997242.2	Q6ZQY3	GADL1_HUMAN	glutamate decarboxylase-like 1	15					carboxylic acid metabolic process (GO:0019752)		aspartate 1-decarboxylase activity (GO:0004068)|pyridoxal phosphate binding (GO:0030170)|sulfinoalanine decarboxylase activity (GO:0004782)			breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25						TTGTTGATCAATATCTCCTGG	0.393																																					p.I15N		.											.	GADL1-90	0			c.T44A						.						110.0	95.0	99.0					3																	30903251		692	1591	2283	SO:0001583	missense	339896	exon2			TGATCAATATCTC	AK128643	CCDS2649.2	3p23-p22	2009-01-14			ENSG00000144644	ENSG00000144644			27949	protein-coding gene	gene with protein product		615601					Standard	NM_207359		Approved		uc003cep.2	Q6ZQY3	OTTHUMG00000130621	ENST00000282538.5:c.44T>A	3.37:g.30903251A>T	ENSP00000282538:p.Ile15Asn	83	0		37	27	NM_207359	0	0	0	0	0		Missense_Mutation	SNP	ENST00000282538.5	37	CCDS2649.2	.	.	.	.	.	.	.	.	.	.	A	6.661	0.490540	0.12702	.	.	ENSG00000144644	ENST00000282538;ENST00000454381	T;T	0.12039	2.91;2.72	5.41	-10.8	0.00216	.	.	.	.	.	T	0.04407	0.0121	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25222	-1.0138	9	0.17832	T	0.49	.	6.4559	0.21930	0.0883:0.148:0.5287:0.235	.	15	Q6ZQY3	GADL1_HUMAN	N	15	ENSP00000282538:I15N;ENSP00000427059:I15N	ENSP00000282538:I15N	I	-	2	0	GADL1	30878255	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-4.438000	0.00234	-4.084000	0.00075	-1.491000	0.00971	ATT	.		0.393	GADL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253106.2	NM_207359	
CMTM8	152189	broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	32398985	32398985	+	Missense_Mutation	SNP	A	A	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:32398985A>T	ENST00000307526.3	+	2	562	c.268A>T	c.(268-270)Atc>Ttc	p.I90F	CMTM8_ENST00000458535.2_Intron	NM_178868.3	NP_849199.2	Q8IZV2	CKLF8_HUMAN	CKLF-like MARVEL transmembrane domain containing 8	90	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				chemotaxis (GO:0006935)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(1)|lung(1)	4						CTTCCTCATTATCTACATAAC	0.517																																					p.I90F		.											.	CMTM8-90	0			c.A268T						.						167.0	160.0	162.0					3																	32398985		2203	4300	6503	SO:0001583	missense	152189	exon2			CTCATTATCTACA	AF474370	CCDS2652.1	3p22.2	2005-11-08	2005-11-08	2005-11-08	ENSG00000170293	ENSG00000170293			19179	protein-coding gene	gene with protein product		607891	"""chemokine-like factor super family 8"", ""chemokine-like factor superfamily 8"""	CKLFSF8			Standard	NM_178868		Approved		uc003cex.3	Q8IZV2	OTTHUMG00000130753	ENST00000307526.3:c.268A>T	3.37:g.32398985A>T	ENSP00000307741:p.Ile90Phe	111	2		73	52	NM_178868	0	0	6	33	27	A5D6I7|Q8IW01	Missense_Mutation	SNP	ENST00000307526.3	37	CCDS2652.1	.	.	.	.	.	.	.	.	.	.	A	9.530	1.110646	0.20714	.	.	ENSG00000170293	ENST00000307526	T	0.26957	1.7	5.98	-2.04	0.07343	Marvel (1);MARVEL-like domain (1);	0.436137	0.23720	N	0.045226	T	0.19366	0.0465	L	0.41710	1.295	0.29109	N	0.880999	B	0.23316	0.083	B	0.34038	0.174	T	0.19745	-1.0296	10	0.36615	T	0.2	-6.7542	7.3195	0.26519	0.4839:0.2113:0.3048:0.0	.	90	Q8IZV2	CKLF8_HUMAN	F	90	ENSP00000307741:I90F	ENSP00000307741:I90F	I	+	1	0	CMTM8	32373989	0.986000	0.35501	0.826000	0.32828	0.181000	0.23173	0.560000	0.23500	-0.976000	0.03542	-1.963000	0.00474	ATC	A|1.000;G|0.000		0.517	CMTM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253253.1	NM_178868	
FBXL2	25827	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	33419633	33419633	+	Silent	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:33419633C>T	ENST00000484457.1	+	12	979	c.888C>T	c.(886-888)tgC>tgT	p.C296C	FBXL2_ENST00000283627.6_3'UTR|FBXL2_ENST00000446237.3_Silent_p.C6C|FBXL2_ENST00000538892.1_Silent_p.C228C|FBXL2_ENST00000538181.1_Silent_p.C212C|FBXL2_ENST00000507198.1_Silent_p.C228C|FBXL2_ENST00000542085.1_Silent_p.C6C	NM_012157.3	NP_036289.3			F-box and leucine-rich repeat protein 2											endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						TTGAAGAATGCATCCTGGTGA	0.537																																					p.C296C		.											.	FBXL2-289	0			c.C888T						.						176.0	147.0	157.0					3																	33419633		2203	4300	6503	SO:0001819	synonymous_variant	25827	exon12			AGAATGCATCCTG	AF174589	CCDS2658.1, CCDS54560.1	3p22.3	2011-06-09			ENSG00000153558	ENSG00000153558		"""F-boxes / Leucine-rich repeats"""	13598	protein-coding gene	gene with protein product		605652				10508920, 10531035	Standard	NM_012157		Approved	FBL2, FBL3	uc003cfp.3	Q9UKC9	OTTHUMG00000130745	ENST00000484457.1:c.888C>T	3.37:g.33419633C>T		105	0		65	49	NM_012157	0	0	0	0	0		Silent	SNP	ENST00000484457.1	37	CCDS2658.1																																																																																			.		0.537	FBXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253245.2	NM_012157	
UBP1	7342	bcgsc.ca	37	3	33458280	33458280	+	Missense_Mutation	SNP	A	A	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:33458280A>T	ENST00000283629.3	-	3	841	c.312T>A	c.(310-312)gaT>gaA	p.D104E	UBP1_ENST00000447368.2_Missense_Mutation_p.D104E|RNU7-110P_ENST00000516891.1_RNA|UBP1_ENST00000283628.5_Missense_Mutation_p.D104E	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a)	104					angiogenesis (GO:0001525)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						TCTCAGGCATATCACCCATTT	0.308																																					p.D104E		.											.	UBP1-537	0			c.T312A						.						109.0	111.0	110.0					3																	33458280		2203	4299	6502	SO:0001583	missense	7342	exon3			AGGCATATCACCC	AF198487	CCDS2659.1, CCDS46788.1	3p22.3	2004-03-02			ENSG00000153560	ENSG00000153560			12507	protein-coding gene	gene with protein product		609784				8114710	Standard	NM_014517		Approved	LBP-1a	uc010hga.3	Q9NZI7	OTTHUMG00000130749	ENST00000283629.3:c.312T>A	3.37:g.33458280A>T	ENSP00000283629:p.Asp104Glu	338	5		199	144	NM_001128160	0	0	0	0	0	Q68CT0|Q86Y57|Q9H8V0|Q9UD76|Q9UD78	Missense_Mutation	SNP	ENST00000283629.3	37	CCDS2659.1	.	.	.	.	.	.	.	.	.	.	A	10.61	1.399121	0.25291	.	.	ENSG00000153560	ENST00000283629;ENST00000447368;ENST00000283628;ENST00000456378	T;T;T;T	0.15952	2.38;2.38;2.38;2.38	5.73	0.047	0.14278	CP2 transcription factor (1);	0.151943	0.64402	D	0.000017	T	0.08179	0.0204	N	0.20766	0.605	0.27156	N	0.961284	B;B	0.21147	0.009;0.052	B;B	0.30495	0.016;0.116	T	0.23583	-1.0184	10	0.21540	T	0.41	-24.0001	1.1458	0.01775	0.3042:0.175:0.3513:0.1696	.	104;104	Q9NZI7-4;Q9NZI7	.;UBIP1_HUMAN	E	104	ENSP00000283629:D104E;ENSP00000395558:D104E;ENSP00000283628:D104E;ENSP00000401614:D104E	ENSP00000283628:D104E	D	-	3	2	UBP1	33433284	0.278000	0.24230	0.974000	0.42286	0.997000	0.91878	0.166000	0.16583	0.139000	0.18822	0.533000	0.62120	GAT	.		0.308	UBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253249.2	NM_014517	
PDCD6IP	10015	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	3	33883509	33883509	+	Missense_Mutation	SNP	T	T	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:33883509T>G	ENST00000307296.3	+	10	1679	c.1302T>G	c.(1300-1302)gaT>gaG	p.D434E	PDCD6IP_ENST00000457054.2_Missense_Mutation_p.D439E			Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	434	Interaction with CHMP4A, CHMP4B and CHMP4C.|Interaction with EIAV p9.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell division (GO:0051301)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)			central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						AGACTGTTGATCAGTTGATTA	0.378																																					p.D439E		.											.	PDCD6IP-228	0			c.T1317G						.						86.0	84.0	85.0					3																	33883509		2203	4300	6503	SO:0001583	missense	10015	exon10			TGTTGATCAGTTG	BC020066	CCDS2660.1, CCDS54561.1	3p22.3	2012-08-30	2001-11-29		ENSG00000170248	ENSG00000170248			8766	protein-coding gene	gene with protein product	"""ALG-2 interacting protein X"""	608074	"""programmed cell death 6-interacting protein"""			9880530	Standard	NM_001162429		Approved	Alix, AIP1, Hp95	uc003cfy.4	Q8WUM4	OTTHUMG00000130751	ENST00000307296.3:c.1302T>G	3.37:g.33883509T>G	ENSP00000307387:p.Asp434Glu	409	2		265	183	NM_001162429	0	0	7	73	66	C5MQH7|E9PFU1|Q6NUS1|Q9BX86|Q9NUN0|Q9P2H2|Q9UKL5	Missense_Mutation	SNP	ENST00000307296.3	37	CCDS2660.1	.	.	.	.	.	.	.	.	.	.	T	5.979	0.364634	0.11296	.	.	ENSG00000170248	ENST00000307296;ENST00000457054	T;T	0.26518	1.73;1.73	4.67	-0.453	0.12201	.	0.049028	0.85682	D	0.000000	T	0.11324	0.0276	N	0.17872	0.535	0.42048	D	0.991105	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.09377	0.004;0.003;0.002	T	0.37731	-0.9693	10	0.02654	T	1	-8.9893	9.5593	0.39360	0.0:0.4149:0.0:0.5851	.	215;439;434	B7Z5C1;E9PFU1;Q8WUM4	.;.;PDC6I_HUMAN	E	434;439	ENSP00000307387:D434E;ENSP00000411825:D439E	ENSP00000307387:D434E	D	+	3	2	PDCD6IP	33858513	1.000000	0.71417	0.997000	0.53966	0.927000	0.56198	1.712000	0.37940	-0.052000	0.13311	0.254000	0.18369	GAT	.		0.378	PDCD6IP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253251.2		
MLH1	4292	broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	37083763	37083763	+	Nonsense_Mutation	SNP	G	G	T	rs63751081		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:37083763G>T	ENST00000231790.2	+	15	1888	c.1672G>T	c.(1672-1674)Gaa>Taa	p.E558*	MLH1_ENST00000539477.1_Nonsense_Mutation_p.E317*|MLH1_ENST00000536378.1_Nonsense_Mutation_p.E317*|MLH1_ENST00000455445.2_Nonsense_Mutation_p.E317*|MLH1_ENST00000458205.2_Nonsense_Mutation_p.E317*|MLH1_ENST00000435176.1_Nonsense_Mutation_p.E460*	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	558	Interaction with EXO1.				ATP catabolic process (GO:0006200)|double-strand break repair via nonhomologous end joining (GO:0006303)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|male meiosis chromosome segregation (GO:0007060)|meiotic metaphase I plate congression (GO:0043060)|mismatch repair (GO:0006298)|negative regulation of mitotic recombination (GO:0045950)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|oogenesis (GO:0048477)|resolution of meiotic recombination intermediates (GO:0000712)|somatic hypermutation of immunoglobulin genes (GO:0016446)|spermatogenesis (GO:0007283)|spindle midzone assembly involved in meiosis (GO:0051257)|synapsis (GO:0007129)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|guanine/thymine mispair binding (GO:0032137)	p.0?(1)|p.?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						TTTCAGTGAAGAACTGTTCTA	0.348		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																												p.E558X		.	yes	Rec	yes	"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	3	3p21.3	4292	E.coli MutL homolog gene		"""E, O"""	.	MLH1-2559	2	Whole gene deletion(1)|Unknown(1)	ovary(1)|breast(1)	c.G1672T	GRCh37	CM990857	MLH1	M		.						215.0	207.0	210.0					3																	37083763		2202	4300	6502	SO:0001587	stop_gained	4292	exon15	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	AGTGAAGAACTGT	U07418	CCDS2663.1, CCDS54562.1, CCDS54563.1	3p22.3	2014-09-17	2013-09-12		ENSG00000076242	ENSG00000076242			7127	protein-coding gene	gene with protein product		120436	"""mutL (E. coli) homolog 1 (colon cancer, nonpolyposis type 2)"", ""mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)"""	COCA2		7903889	Standard	NM_000249		Approved	HNPCC, FCC2, HNPCC2	uc003cgl.3	P40692	OTTHUMG00000130797	ENST00000231790.2:c.1672G>T	3.37:g.37083763G>T	ENSP00000231790:p.Glu558*	73	2		44	33	NM_000249	0	0	0	0	0	B4DI13|B4DQ11|E9PCU2	Nonsense_Mutation	SNP	ENST00000231790.2	37	CCDS2663.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	44|44	10.553769|10.553769	0.99426|0.99426	.|.	.|.	ENSG00000076242|ENSG00000076242	ENST00000231790;ENST00000383761;ENST00000421440;ENST00000458205;ENST00000539477;ENST00000455445;ENST00000435176;ENST00000536378|ENST00000456676	.|.	.|.	.|.	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	0.047190|.	0.85682|.	D|.	0.000000|.	.|T	.|0.76378	.|0.3979	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74309	.|-0.3707	.|3	0.87932|.	D|.	0|.	-21.1689|-21.1689	19.4557|19.4557	0.94886|0.94886	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	rs63751081|rs63751081	.|.	.|.	.|.	X|N	558;422;100;317;317;317;460;317|549	.|.	ENSP00000231790:E558X|.	E|K	+|+	1|3	0|2	MLH1|MLH1	37058767|37058767	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	8.813000|8.813000	0.91963|0.91963	2.823000|2.823000	0.97156|0.97156	0.591000|0.591000	0.81541|0.81541	GAA|AAG	.		0.348	MLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253337.2	NM_000249	
SCN11A	11280	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	38921457	38921457	+	Missense_Mutation	SNP	T	T	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:38921457T>A	ENST00000302328.3	-	19	3575	c.3377A>T	c.(3376-3378)gAt>gTt	p.D1126V	SCN11A_ENST00000444237.2_Missense_Mutation_p.D1126V|SCN11A_ENST00000450244.1_Missense_Mutation_p.D1126V|SCN11A_ENST00000456224.3_Missense_Mutation_p.D1088V	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1126					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AATGATGAAATCAAGGCAGCA	0.438																																					p.D1126V		.											.	SCN11A-99	0			c.A3377T						.						70.0	64.0	66.0					3																	38921457		2203	4300	6503	SO:0001583	missense	11280	exon19			ATGAAATCAAGGC	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.3377A>T	3.37:g.38921457T>A	ENSP00000307599:p.Asp1126Val	91	0		52	31	NM_014139	0	0	0	0	0	A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.307510	0.81247	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.99399	-5.83;-5.83;-5.83;-5.83	5.53	5.53	0.82687	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99819	0.9920	H	0.99777	4.77	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96434	0.9321	10	0.87932	D	0	.	15.3302	0.74203	0.0:0.0:0.0:1.0	.	1126	Q9UI33	SCNBA_HUMAN	V	1126;1126;1088;1126	ENSP00000307599:D1126V;ENSP00000400945:D1126V;ENSP00000416757:D1088V;ENSP00000408028:D1126V	ENSP00000307599:D1126V	D	-	2	0	SCN11A	38896461	1.000000	0.71417	0.954000	0.39281	0.895000	0.52256	7.997000	0.88414	2.100000	0.63781	0.477000	0.44152	GAT	.		0.438	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139	
ULK4	54986	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	41759264	41759264	+	Missense_Mutation	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:41759264T>C	ENST00000301831.4	-	23	2873	c.2411A>G	c.(2410-2412)gAt>gGt	p.D804G		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	804					cilium morphogenesis (GO:0060271)|epithelial cilium movement (GO:0003351)|microtubule cytoskeleton organization (GO:0000226)|regulation of JNK cascade (GO:0046328)|regulation of MAPK cascade (GO:0043408)|regulation of neuron migration (GO:2001222)|regulation of neuron projection development (GO:0010975)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase C signaling (GO:0090036)|ventricular system development (GO:0021591)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		GATGAGAAGATCCAGGCATTT	0.483																																					p.D804G		.											.	ULK4-297	0			c.A2411G						.						125.0	130.0	128.0					3																	41759264		2027	4191	6218	SO:0001583	missense	54986	exon23			AGAAGATCCAGGC	AK000581	CCDS43071.1	3p22.1	2013-07-02	2013-07-02		ENSG00000168038	ENSG00000168038			15784	protein-coding gene	gene with protein product			"""unc-51-like kinase 4 (C. elegans)"""			12477932	Standard	NM_017886		Approved	FLJ20574, REC01035, FAM7C1	uc003ckv.4	Q96C45	OTTHUMG00000156210	ENST00000301831.4:c.2411A>G	3.37:g.41759264T>C	ENSP00000301831:p.Asp804Gly	101	0		68	53	NM_017886	0	0	0	1	1	A6NF15|Q8IW79|Q9NWV6|Q9UF96	Missense_Mutation	SNP	ENST00000301831.4	37	CCDS43071.1	.	.	.	.	.	.	.	.	.	.	T	12.29	1.892178	0.33442	.	.	ENSG00000168038	ENST00000301831	T	0.66099	-0.19	5.45	4.29	0.51040	Armadillo-type fold (2);	0.325553	0.30473	N	0.009546	T	0.50514	0.1620	L	0.43923	1.385	0.80722	D	1	B	0.09022	0.002	B	0.04013	0.001	T	0.40213	-0.9575	10	0.27785	T	0.31	.	9.244	0.37513	0.0:0.1465:0.0:0.8535	.	804	Q96C45	ULK4_HUMAN	G	804	ENSP00000301831:D804G	ENSP00000301831:D804G	D	-	2	0	ULK4	41734268	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.141000	0.50593	0.917000	0.36895	0.459000	0.35465	GAT	.		0.483	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343490.1	XM_929989	
HHATL	57467	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	42738492	42738492	+	Splice_Site	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:42738492C>T	ENST00000441594.1	-	8	1272		c.e8+1		HHATL_ENST00000310417.5_Splice_Site	NM_020707.3	NP_065758.3	Q9HCP6	HHATL_HUMAN	hedgehog acyltransferase-like						negative regulation of N-terminal protein palmitoylation (GO:0060262)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19				KIRC - Kidney renal clear cell carcinoma(284;0.215)		CCAGCACTCACGTTTCCGCAA	0.632																																					.		.											.	HHATL-93	0			c.1010+1G>A						.						63.0	53.0	56.0					3																	42738492		2203	4300	6503	SO:0001630	splice_region_variant	57467	exon9			CACTCACGTTTCC	AB042554	CCDS2704.1	3p22	2009-10-06	2007-02-06	2007-02-06	ENSG00000010282	ENSG00000010282			13242	protein-coding gene	gene with protein product	"""membrane bound O-acyltransferase domain containing 3"""	608116	"""chromosome 3 open reading frame 3"", ""GUP1, glycerol uptake/transporter homolog (yeast)"""	C3orf3, GUP1		11374908	Standard	NM_020707		Approved	KIAA1173, OACT3, MSTP002, MBOAT3	uc003clx.3	Q9HCP6	OTTHUMG00000133043	ENST00000441594.1:c.1010+1G>A	3.37:g.42738492C>T		155	0		106	86	NM_020707	0	0	0	0	0	Q8TBG3|Q9ULP7	Splice_Site	SNP	ENST00000441594.1	37	CCDS2704.1	.	.	.	.	.	.	.	.	.	.	c	14.79	2.639735	0.47153	.	.	ENSG00000010282	ENST00000426666;ENST00000310417;ENST00000441594;ENST00000341477	.	.	.	4.32	4.32	0.51571	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2159	0.86944	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HHATL	42713496	1.000000	0.71417	1.000000	0.80357	0.380000	0.30137	7.672000	0.83956	2.129000	0.65627	0.550000	0.68814	.	.		0.632	HHATL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343627.1	NM_020707	Intron
KIAA1143	57456	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	44803069	44803069	+	Missense_Mutation	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:44803069T>C	ENST00000296121.4	-	1	85	c.26A>G	c.(25-27)tAc>tGc	p.Y9C	KIAA1143_ENST00000484437.1_5'Flank|KIF15_ENST00000326047.4_5'Flank	NM_020696.3	NP_065747.1	Q96AT1	K1143_HUMAN	KIAA1143	9										NS(1)|breast(1)|central_nervous_system(1)|large_intestine(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.00847)|KIRC - Kidney renal clear cell carcinoma(197;0.0465)|Kidney(197;0.0582)		TGGCCGCACGTACGATACCTG	0.607																																					p.Y9C		.											.	KIAA1143-90	0			c.A26G						.						30.0	34.0	33.0					3																	44803069		2203	4300	6503	SO:0001583	missense	57456	exon1			CGCACGTACGATA	AB032969	CCDS2721.1	3p21.31	2005-08-15			ENSG00000163807	ENSG00000163807			29198	protein-coding gene	gene with protein product						10574461	Standard	NM_020696		Approved		uc011bac.2	Q96AT1	OTTHUMG00000133088	ENST00000296121.4:c.26A>G	3.37:g.44803069T>C	ENSP00000296121:p.Tyr9Cys	132	1		88	71	NM_020696	0	0	5	39	34	A8K0I4|Q96HJ8|Q9ULS7	Missense_Mutation	SNP	ENST00000296121.4	37	CCDS2721.1	.	.	.	.	.	.	.	.	.	.	T	14.74	2.625234	0.46840	.	.	ENSG00000163807	ENST00000296121	T	0.69175	-0.38	5.0	3.8	0.43715	.	0.116409	0.64402	D	0.000007	T	0.78761	0.4334	M	0.82517	2.595	0.51767	D	0.999939	D	0.69078	0.997	P	0.60415	0.874	T	0.80034	-0.1551	9	.	.	.	-2.5886	11.2689	0.49127	0.1369:0.0:0.0:0.8631	.	9	Q96AT1	K1143_HUMAN	C	9	ENSP00000296121:Y9C	.	Y	-	2	0	KIAA1143	44778073	1.000000	0.71417	0.925000	0.36789	0.075000	0.17131	3.966000	0.56795	0.993000	0.38866	0.533000	0.62120	TAC	.		0.607	KIAA1143-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256746.1	NM_020696	
CCR9	10803	broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	45942503	45942503	+	Missense_Mutation	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:45942503T>C	ENST00000357632.2	+	3	403	c.223T>C	c.(223-225)Tac>Cac	p.Y75H	LZTFL1_ENST00000536047.1_Intron|Y_RNA_ENST00000364765.1_RNA|CCR9_ENST00000395963.2_Missense_Mutation_p.Y63H|CCR9_ENST00000355983.2_Missense_Mutation_p.Y63H|LZTFL1_ENST00000539217.1_Intron|CCR9_ENST00000422395.1_Silent_p.G103G	NM_001256369.1|NM_031200.2	NP_001243298.1|NP_112477.1	P51686	CCR9_HUMAN	chemokine (C-C motif) receptor 9	75					cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)		TGTCTACTGGTACTGCACAAG	0.502																																					p.Y75H		.											.	CCR9-660	0			c.T223C						.						307.0	260.0	276.0					3																	45942503		2203	4300	6503	SO:0001583	missense	10803	exon3			TACTGGTACTGCA	AJ132337	CCDS2732.1, CCDS2733.1	3p21.31	2012-09-20			ENSG00000173585	ENSG00000173585		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1610	protein-coding gene	gene with protein product		604738		GPR28		10229797	Standard	NM_006641		Approved	GPR-9-6, CDw199	uc003coz.2	P51686	OTTHUMG00000133450	ENST00000357632.2:c.223T>C	3.37:g.45942503T>C	ENSP00000350256:p.Tyr75His	245	2		196	144	NM_031200	0	0	0	0	0	Q4VBM3|Q549E0|Q9UQQ6	Missense_Mutation	SNP	ENST00000357632.2	37	CCDS2732.1	.	.	.	.	.	.	.	.	.	.	T	11.77	1.737976	0.30774	.	.	ENSG00000173585	ENST00000357632;ENST00000395963;ENST00000355983	T;T;T	0.37058	1.22;1.22;1.22	5.14	5.14	0.70334	GPCR, rhodopsin-like superfamily (1);	0.317119	0.29846	N	0.011047	T	0.49541	0.1563	L	0.51853	1.615	0.32837	D	0.504782	D	0.65815	0.995	D	0.72982	0.979	T	0.58064	-0.7702	10	0.30078	T	0.28	.	10.0883	0.42432	0.1885:0.0:0.0:0.8115	.	75	P51686	CCR9_HUMAN	H	75;63;63	ENSP00000350256:Y75H;ENSP00000379292:Y63H;ENSP00000348260:Y63H	ENSP00000348260:Y63H	Y	+	1	0	CCR9	45917507	1.000000	0.71417	1.000000	0.80357	0.096000	0.18686	2.026000	0.41069	1.939000	0.56221	0.460000	0.39030	TAC	.		0.502	CCR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257323.2		
NBEAL2	23218	ucsc.edu;bcgsc.ca	37	3	47041809	47041809	+	Missense_Mutation	SNP	C	C	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:47041809C>A	ENST00000450053.3	+	27	4399	c.4220C>A	c.(4219-4221)tCc>tAc	p.S1407Y	NBEAL2_ENST00000292309.5_Missense_Mutation_p.S1223Y|NBEAL2_ENST00000383740.2_5'UTR	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1407					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CGCCACAGCTCCAGTCTCTCC	0.667																																					p.S1407Y		.											.	NBEAL2-69	0			c.C4220A						.						22.0	26.0	25.0					3																	47041809		2054	4190	6244	SO:0001583	missense	23218	exon27			ACAGCTCCAGTCT	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"""WD repeat domain containing"""	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.4220C>A	3.37:g.47041809C>A	ENSP00000415034:p.Ser1407Tyr	197	3		126	96	NM_015175	0	0	0	1	1	O60288|Q6P994|Q6UX91|Q8NAC9	Missense_Mutation	SNP	ENST00000450053.3	37	CCDS46817.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.2|21.2	4.111672|4.111672	0.77210|0.77210	.|.	.|.	ENSG00000160796|ENSG00000160796	ENST00000416683|ENST00000292309;ENST00000450053	.|T;T	.|0.59224	.|0.32;0.28	5.29|5.29	5.29|5.29	0.74685|0.74685	.|.	.|0.137847	.|0.48767	.|D	.|0.000172	T|T	0.71517|0.71517	0.3349|0.3349	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	.|D	.|0.69078	.|0.997	.|D	.|0.65010	.|0.931	T|T	0.74463|0.74463	-0.3657|-0.3657	5|10	.|0.87932	.|D	.|0	.|.	16.4043|16.4043	0.83652|0.83652	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1407	.|Q6ZNJ1	.|NBEL2_HUMAN	T|Y	695|1223;1407	.|ENSP00000292309:S1223Y;ENSP00000415034:S1407Y	.|ENSP00000292309:S1223Y	P|S	+|+	1|2	0|0	NBEAL2|NBEAL2	47016813|47016813	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.554000|0.554000	0.35429|0.35429	7.435000|7.435000	0.80391|0.80391	2.476000|2.476000	0.83614|0.83614	0.561000|0.561000	0.74099|0.74099	CCA|TCC	.		0.667	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064	
KLHL18	23276	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	47378243	47378243	+	Missense_Mutation	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:47378243A>G	ENST00000232766.5	+	7	1137	c.1117A>G	c.(1117-1119)Aga>Gga	p.R373G	KLHL18_ENST00000455924.2_Missense_Mutation_p.R261G	NM_025010.4	NP_079286.2	O94889	KLH18_HUMAN	kelch-like family member 18	373										endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		GAATAGCAAGAGAAGGTATTC	0.557																																					p.R373G		.											.	KLHL18-90	0			c.A1117G						.						72.0	60.0	64.0					3																	47378243		2203	4300	6503	SO:0001583	missense	23276	exon7			AGCAAGAGAAGGT	AB018338	CCDS33749.1	3p21	2013-01-30	2013-01-30		ENSG00000114648	ENSG00000114648		"""Kelch-like"", ""BTB/POZ domain containing"""	29120	protein-coding gene	gene with protein product			"""kelch-like 18 (Drosophila)"""			9872452	Standard	NM_025010		Approved	KIAA0795, FLJ13703	uc003crd.3	O94889	OTTHUMG00000156522	ENST00000232766.5:c.1117A>G	3.37:g.47378243A>G	ENSP00000232766:p.Arg373Gly	253	0		174	134	NM_025010	0	0	0	0	0	A8K612|Q7Z3E8|Q8N125	Missense_Mutation	SNP	ENST00000232766.5	37	CCDS33749.1	.	.	.	.	.	.	.	.	.	.	A	17.73	3.461046	0.63513	.	.	ENSG00000114648	ENST00000232766;ENST00000455924	D;D	0.85556	-2.0;-2.0	5.34	1.55	0.23275	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.95456	0.8524	H	0.99650	4.68	0.80722	D	1	P;D;P	0.60160	0.871;0.987;0.51	B;D;B	0.67103	0.343;0.949;0.23	D	0.96091	0.9061	10	0.87932	D	0	.	13.9738	0.64257	0.5397:0.4603:0.0:0.0	.	229;373;308	Q647K1;O94889;O94889-2	.;KLH18_HUMAN;.	G	373;261	ENSP00000232766:R373G;ENSP00000405585:R261G	ENSP00000232766:R373G	R	+	1	2	KLHL18	47353247	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.405000	0.34635	0.297000	0.22615	0.402000	0.26972	AGA	.		0.557	KLHL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344493.1	NM_025010	
SCAP	22937	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	47458817	47458817	+	Missense_Mutation	SNP	C	C	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:47458817C>A	ENST00000265565.5	-	17	3359	c.2947G>T	c.(2947-2949)Ggg>Tgg	p.G983W	SCAP_ENST00000441517.2_Missense_Mutation_p.G727W|SCAP_ENST00000545718.1_Missense_Mutation_p.G590W	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	983	Interaction with SREBF2. {ECO:0000250}.				aging (GO:0007568)|cholesterol metabolic process (GO:0008203)|negative regulation of cholesterol biosynthetic process (GO:0045541)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of fatty acid biosynthetic process (GO:0042304)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		CTGCTCCGCCCCACCACGATG	0.701																																					p.G983W	Pancreas(149;978 1908 29304 37806 46700)	.											.	SCAP-91	0			c.G2947T						.						13.0	13.0	13.0					3																	47458817		2183	4281	6464	SO:0001583	missense	22937	exon17			TCCGCCCCACCAC	BC020987	CCDS2755.2	3p21.31	2013-01-10			ENSG00000114650	ENSG00000114650		"""WD repeat domain containing"""	30634	protein-coding gene	gene with protein product	"""SREBP cleavage activating protein"""	601510				8898195, 8724849, 10570913	Standard	XM_005264967		Approved	KIAA0199	uc003crh.1	Q12770	OTTHUMG00000125539	ENST00000265565.5:c.2947G>T	3.37:g.47458817C>A	ENSP00000265565:p.Gly983Trp	61	0		53	43	NM_012235	0	0	4	197	193	Q8N2E0|Q8WUA1	Missense_Mutation	SNP	ENST00000265565.5	37	CCDS2755.2	.	.	.	.	.	.	.	.	.	.	C	27.2	4.812101	0.90707	.	.	ENSG00000114650	ENST00000360832;ENST00000265565;ENST00000441517;ENST00000545718	T;T;T	0.52983	0.94;1.72;0.64	4.96	4.96	0.65561	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.61098	0.2320	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.64441	-0.6407	10	0.87932	D	0	-31.6247	17.9865	0.89157	0.0:1.0:0.0:0.0	.	727;983	F8W921;Q12770	.;SCAP_HUMAN	W	609;983;727;590	ENSP00000265565:G983W;ENSP00000416847:G727W;ENSP00000438956:G590W	ENSP00000265565:G983W	G	-	1	0	SCAP	47433821	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	7.280000	0.78610	2.584000	0.87258	0.561000	0.74099	GGG	.		0.701	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246872.2	NM_012235	
ARIH2OS	646450	hgsc.bcm.edu	37	3	48956411	48956411	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:48956411G>A	ENST00000408959.2	-	1	407	c.172C>T	c.(172-174)Ccg>Tcg	p.P58S	ARIH2_ENST00000449376.1_5'UTR|ARIH2_ENST00000490095.1_3'UTR|ARIH2_ENST00000356401.4_5'UTR	NM_001123040.1	NP_001116512.1	Q8N7S6	ARI2O_HUMAN	ariadne homolog 2 opposite strand	58						integral component of membrane (GO:0016021)											GGGCTCAGCGGCCGCGAGGCC	0.761																																					p.P58S		.											.	.	0			c.C172T						.						3.0	4.0	4.0					3																	48956411		1114	2753	3867	SO:0001583	missense	646450	exon1			TCAGCGGCCGCGA	DA461567	CCDS43088.1	3p21.31	2012-10-08	2012-10-08	2012-10-08	ENSG00000221883	ENSG00000221883			34425	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 71"""	C3orf71			Standard	NM_001123040		Approved		uc010hkk.1	Q8N7S6	OTTHUMG00000156672	ENST00000408959.2:c.172C>T	3.37:g.48956411G>A	ENSP00000386193:p.Pro58Ser	0	0		9	8	NM_001123040	0	0	0	9	9		Missense_Mutation	SNP	ENST00000408959.2	37	CCDS43088.1	.	.	.	.	.	.	.	.	.	.	G	12.61	1.988998	0.35131	.	.	ENSG00000221883	ENST00000408959	.	.	.	4.27	2.41	0.29592	.	.	.	.	.	T	0.46639	0.1403	N	0.08118	0	0.80722	D	1	D	0.63880	0.993	P	0.62491	0.903	T	0.50398	-0.8833	8	0.87932	D	0	.	9.3828	0.38325	0.0:0.0:0.6124:0.3876	.	58	Q8N7S6	CC071_HUMAN	S	58	.	ENSP00000386193:P58S	P	-	1	0	C3orf71	48931415	1.000000	0.71417	0.910000	0.35882	0.016000	0.09150	1.464000	0.35288	0.525000	0.28522	0.655000	0.94253	CCG	.		0.761	ARIH2OS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345247.1	NM_001123040	
UBA7	7318	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	49846424	49846424	+	Missense_Mutation	SNP	C	C	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:49846424C>G	ENST00000333486.3	-	18	2490	c.2332G>C	c.(2332-2334)Gct>Cct	p.A778P	MIR5193_ENST00000584510.1_RNA	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	778					cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ISG15 activating enzyme activity (GO:0019782)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TCAGCAGAAGCCGAAGCCAGC	0.577																																					p.A778P		.											.	UBA7-228	0			c.G2332C						.						24.0	26.0	25.0					3																	49846424		2203	4298	6501	SO:0001583	missense	7318	exon18			CAGAAGCCGAAGC	BC006378	CCDS2805.1	3p21	2007-11-30	2007-11-30	2007-11-30	ENSG00000182179	ENSG00000182179		"""Ubiquitin-like modifier activating enzymes"""	12471	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog B (yeast)"", ""UBA7, ubiquitin-activating enzyme E1"""	191325	"""ubiquitin-activating enzyme E1-like"""	UBE1L		8327486	Standard	NM_003335		Approved	D8, UBE2, UBA1B	uc003cxr.3	P41226	OTTHUMG00000158267	ENST00000333486.3:c.2332G>C	3.37:g.49846424C>G	ENSP00000333266:p.Ala778Pro	133	0		76	61	NM_003335	0	0	3	14	11	Q9BRB2	Missense_Mutation	SNP	ENST00000333486.3	37	CCDS2805.1	.	.	.	.	.	.	.	.	.	.	C	15.54	2.865097	0.51482	.	.	ENSG00000182179	ENST00000333486	T	0.42513	0.97	4.58	3.69	0.42338	Molybdenum cofactor biosynthesis, MoeB (1);Ubiquitin-like 1 activating enzyme, catalytic cysteine domain (1);	0.797677	0.11766	N	0.531602	T	0.26304	0.0642	N	0.08118	0	0.09310	N	1	B	0.14438	0.01	B	0.24155	0.051	T	0.24870	-1.0148	10	0.39692	T	0.17	-0.2405	11.6781	0.51442	0.0:0.8206:0.1794:0.0	.	778	P41226	UBA7_HUMAN	P	778	ENSP00000333266:A778P	ENSP00000333266:A778P	A	-	1	0	UBA7	49821428	0.007000	0.16637	0.014000	0.15608	0.817000	0.46193	0.860000	0.27871	0.899000	0.36444	0.561000	0.74099	GCT	.		0.577	UBA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350503.1	NM_003335	
DOCK3	1795	hgsc.bcm.edu;bcgsc.ca	37	3	51417604	51417604	+	Frame_Shift_Del	DEL	C	C	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:51417604delC	ENST00000266037.9	+	52	5572	c.5549delC	c.(5548-5550)accfs	p.T1850fs		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1850					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.P1852fs*45(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CTGGGTGATACCCCCCCAGCC	0.597																																					p.T1850fs		.											.	DOCK3-22	1	Deletion - Frameshift(1)	large_intestine(1)	c.5549delC						.						83.0	84.0	84.0					3																	51417604		1912	4118	6030	SO:0001589	frameshift_variant	1795	exon52			GTGATACCCCCCC	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.5549delC	3.37:g.51417604delC	ENSP00000266037:p.Thr1850fs	52	1		54	47	NM_004947	0	0	0	0	0	O15017	Frame_Shift_Del	DEL	ENST00000266037.9	37	CCDS46835.1																																																																																			.		0.597	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947	
RRP9	9136	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	51968549	51968549	+	Missense_Mutation	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:51968549A>G	ENST00000232888.6	-	13	1272	c.1199T>C	c.(1198-1200)gTg>gCg	p.V400A		NM_004704.3	NP_004695.1	O43818	U3IP2_HUMAN	ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast)	400					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|skin(1)	21				BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724)		CCAAAGCCGCACACAGGAGCT	0.642																																					p.V400A		.											.	RRP9-154	0			c.T1199C						.						62.0	53.0	56.0					3																	51968549		2203	4300	6503	SO:0001583	missense	9136	exon13			AGCCGCACACAGG	AJ001340	CCDS2837.1	3p21.31	2013-01-10	2008-02-26	2006-10-24	ENSG00000114767	ENSG00000114767		"""WD repeat domain containing"""	16829	protein-coding gene	gene with protein product			"""RNA, U3 small nucleolar interacting protein 2"""	RNU3IP2		9418896, 12032086	Standard	NM_004704		Approved	U3-55K	uc003dbw.2	O43818	OTTHUMG00000156930	ENST00000232888.6:c.1199T>C	3.37:g.51968549A>G	ENSP00000232888:p.Val400Ala	338	1		244	184	NM_004704	0	0	2	22	20	B2R996|Q8IZ30	Missense_Mutation	SNP	ENST00000232888.6	37	CCDS2837.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.059767	0.76074	.	.	ENSG00000114767	ENST00000232888	D	0.83837	-1.77	5.32	5.32	0.75619	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.85831	0.5788	M	0.83603	2.65	0.80722	D	1	P	0.45348	0.856	B	0.43680	0.427	D	0.88052	0.2788	10	0.62326	D	0.03	-15.5852	14.9454	0.71026	1.0:0.0:0.0:0.0	.	400	O43818	U3IP2_HUMAN	A	400	ENSP00000232888:V400A	ENSP00000232888:V400A	V	-	2	0	RRP9	51943589	1.000000	0.71417	0.971000	0.41717	0.974000	0.67602	6.898000	0.75676	2.022000	0.59522	0.379000	0.24179	GTG	.		0.642	RRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346637.1	NM_004704	
DUSP7	1849	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	52085041	52085041	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:52085041C>T	ENST00000495880.1	-	3	1233	c.1050G>A	c.(1048-1050)atG>atA	p.M350I	DUSP7_ENST00000296483.6_Missense_Mutation_p.M299I			Q16829	DUS7_HUMAN	dual specificity phosphatase 7	350	Tyrosine-protein phosphatase.				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)			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)		GTGACAGGTTCATCTTCTGCA	0.552																																					p.M350I		.											.	DUSP7-659	0			c.G1050A						.						135.0	118.0	124.0					3																	52085041		2203	4300	6503	SO:0001583	missense	1849	exon3			CAGGTTCATCTTC	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.1050G>A	3.37:g.52085041C>T	ENSP00000417183:p.Met350Ile	90	0		94	73	NM_001947	0	0	3	5	2	Q2M3J7|Q8NFJ0	Missense_Mutation	SNP	ENST00000495880.1	37	CCDS33766.2	.	.	.	.	.	.	.	.	.	.	c	17.43	3.387133	0.61956	.	.	ENSG00000164086	ENST00000495880;ENST00000296483	T;T	0.60040	0.22;0.22	5.75	5.75	0.90469	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.108221	0.64402	D	0.000005	T	0.51058	0.1652	L	0.43152	1.355	0.49213	D	0.999762	B	0.16166	0.016	B	0.14578	0.011	T	0.46414	-0.9193	10	0.52906	T	0.07	.	14.1887	0.65623	0.0:0.7365:0.2635:0.0	.	350	Q16829	DUS7_HUMAN	I	350;299	ENSP00000417183:M350I;ENSP00000296483:M299I	ENSP00000296483:M299I	M	-	3	0	DUSP7	52060081	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.398000	0.34554	2.722000	0.93159	0.643000	0.83706	ATG	.		0.552	DUSP7-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000349697.1	NM_001947	
DUSP7	1849	hgsc.bcm.edu;bcgsc.ca;mdanderson.org	37	3	52088244	52088244	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:52088244C>T	ENST00000495880.1	-	2	847	c.664G>A	c.(664-666)Gac>Aac	p.D222N	DUSP7_ENST00000296483.6_Missense_Mutation_p.D171N			Q16829	DUS7_HUMAN	dual specificity phosphatase 7	222	Ser-rich.				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)			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)		AGCTCTCGGTCCGACTCGCCG	0.672																																					p.D222N		.											.	DUSP7-659	0			c.G664A						.						93.0	87.0	89.0					3																	52088244		2203	4300	6503	SO:0001583	missense	1849	exon2			CTCGGTCCGACTC	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.664G>A	3.37:g.52088244C>T	ENSP00000417183:p.Asp222Asn	156	0		144	108	NM_001947	0	0	1	1	0	Q2M3J7|Q8NFJ0	Missense_Mutation	SNP	ENST00000495880.1	37	CCDS33766.2	.	.	.	.	.	.	.	.	.	.	C	36	5.899541	0.97081	.	.	ENSG00000164086	ENST00000495880;ENST00000296483;ENST00000469623	T;T;T	0.10573	4.2;4.23;2.86	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.36413	0.0966	M	0.77103	2.36	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.83275	0.986;0.996	T	0.02852	-1.1102	10	0.39692	T	0.17	.	19.0554	0.93062	0.0:1.0:0.0:0.0	.	171;222	Q16829-2;Q16829	.;DUS7_HUMAN	N	222;171;155	ENSP00000417183:D222N;ENSP00000296483:D171N;ENSP00000418566:D155N	ENSP00000296483:D171N	D	-	1	0	DUSP7	52063284	1.000000	0.71417	0.947000	0.38551	0.905000	0.53344	7.753000	0.85153	2.585000	0.87301	0.549000	0.68633	GAC	.		0.672	DUSP7-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000349697.1	NM_001947	
BAP1	8314	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	52438537	52438537	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:52438537G>A	ENST00000460680.1	-	12	1653	c.1182C>T	c.(1180-1182)taC>taT	p.Y394Y	BAP1_ENST00000296288.5_Silent_p.Y376Y	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0					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.Y394*(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)		catcATCTGAGTACTGCTGGG	0.567			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""																															p.Y394Y	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	Substitution - Nonsense(1)	pleura(1)	c.C1182T						.						129.0	97.0	108.0					3																	52438537		2203	4300	6503	SO:0001819	synonymous_variant	8314	exon12			ATCTGAGTACTGC	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.1182C>T	3.37:g.52438537G>A		133	1		103	83	NM_004656	0	0	2	4	2	B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Silent	SNP	ENST00000460680.1	37	CCDS2853.1																																																																																			.		0.567	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1		
PHF7	51533	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	52457218	52457218	+	Missense_Mutation	SNP	C	C	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:52457218C>G	ENST00000327906.3	+	11	1691	c.1031C>G	c.(1030-1032)aCt>aGt	p.T344S	PHF7_ENST00000347025.2_Missense_Mutation_p.T305S	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7	344						Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		CTTTCTTGGACTGATTGGCCA	0.527																																					p.T344S		.											.	PHF7-153	0			c.C1031G						.						79.0	81.0	80.0					3																	52457218		2203	4300	6503	SO:0001583	missense	51533	exon11			CTTGGACTGATTG	AY014283	CCDS2854.1, CCDS2855.1	3p21.31	2013-01-28			ENSG00000010318	ENSG00000010318		"""Zinc fingers, PHD-type"""	18458	protein-coding gene	gene with protein product						11042152, 11829468	Standard	NM_016483		Approved	NYD-SP6, HSPC226	uc003ddy.3	Q9BWX1	OTTHUMG00000158495	ENST00000327906.3:c.1031C>G	3.37:g.52457218C>G	ENSP00000333024:p.Thr344Ser	252	1		188	152	NM_016483	0	0	1	7	6	K4DI82	Missense_Mutation	SNP	ENST00000327906.3	37	CCDS2854.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.613|1.613	-0.523443|-0.523443	0.04141|0.04141	.|.	.|.	ENSG00000010318|ENSG00000010318	ENST00000461861|ENST00000478707;ENST00000327906;ENST00000347025;ENST00000394916	.|D;D;D	.|0.92545	.|-2.03;-2.03;-3.06	5.3|5.3	-0.0558|-0.0558	0.13808|0.13808	.|.	.|0.747388	.|0.12884	.|N	.|0.431200	D|D	0.84727|0.84727	0.5536|0.5536	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	1|1	.|B;B	.|0.06786	.|0.001;0.001	.|B;B	.|0.04013	.|0.001;0.001	T|T	0.69584|0.69584	-0.5106|-0.5106	5|10	.|0.22109	.|T	.|0.4	0.1542|0.1542	7.7076|7.7076	0.28659|0.28659	0.4265:0.2955:0.278:0.0|0.4265:0.2955:0.278:0.0	.|.	.|344;344	.|A8K856;Q9BWX1	.|.;PHF7_HUMAN	V|S	289|344;344;305;253	.|ENSP00000419316:T344S;ENSP00000333024:T344S;ENSP00000246282:T305S	.|ENSP00000333024:T344S	L|T	+|+	1|2	2|0	PHF7|PHF7	52432258|52432258	0.140000|0.140000	0.22579|0.22579	0.313000|0.313000	0.25210|0.25210	0.090000|0.090000	0.18270|0.18270	0.687000|0.687000	0.25407|0.25407	0.314000|0.314000	0.23086|0.23086	0.655000|0.655000	0.94253|0.94253	CTG|ACT	.		0.527	PHF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351155.1	NM_016483	
STAB1	23166	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	52543970	52543970	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:52543970G>A	ENST00000321725.6	+	23	2508	c.2432G>A	c.(2431-2433)aGt>aAt	p.S811N		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	811					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CCTGGCTTCAGTGGCCGGTTC	0.657																																					p.S811N		.											.	STAB1-139	0			c.G2432A						.						48.0	51.0	50.0					3																	52543970		2203	4297	6500	SO:0001583	missense	23166	exon23			GCTTCAGTGGCCG	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.2432G>A	3.37:g.52543970G>A	ENSP00000312946:p.Ser811Asn	159	0		134	108	NM_015136	0	0	4	4	0	A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	37	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	G	10.13	1.266074	0.23136	.	.	ENSG00000010327	ENST00000321725	T	0.02863	4.13	5.23	1.03	0.20045	.	0.586642	0.17541	N	0.170523	T	0.01870	0.0059	N	0.20357	0.565	0.21915	N	0.999474	B	0.32302	0.363	B	0.30646	0.118	T	0.49995	-0.8879	10	0.23302	T	0.38	.	7.0077	0.24846	0.1966:0.5109:0.2925:0.0	.	811	Q9NY15	STAB1_HUMAN	N	811	ENSP00000312946:S811N	ENSP00000312946:S811N	S	+	2	0	STAB1	52519010	0.017000	0.18338	0.585000	0.28666	0.087000	0.18053	1.473000	0.35387	0.559000	0.29153	-0.211000	0.12701	AGT	.		0.657	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136	
DENND6A	201627	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	57616494	57616494	+	Missense_Mutation	SNP	T	T	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:57616494T>A	ENST00000311128.5	-	17	1535	c.1465A>T	c.(1465-1467)Aca>Tca	p.T489S	RP11-755B10.2_ENST00000470427.1_RNA	NM_152678.2	NP_689891.1	Q8IWF6	DEN6A_HUMAN	DENN/MADD domain containing 6A	489					positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of Rab GTPase activity (GO:0032851)	cytoplasm (GO:0005737)|recycling endosome (GO:0055037)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)										TGAGGTCCTGTTTTCTCAAGT	0.358																																					p.T489S		.											.	.	0			c.A1465T						.						89.0	88.0	88.0					3																	57616494		2203	4300	6503	SO:0001583	missense	201627	exon17			GTCCTGTTTTCTC	AK074156	CCDS33773.1	3p14.3	2013-10-11	2012-10-03	2012-10-03	ENSG00000174839	ENSG00000174839		"""DENN/MADD domain containing"""	26635	protein-coding gene	gene with protein product			"""family with sequence similarity 116, member A"""	FAM116A		21330364	Standard	NM_152678		Approved	FLJ34969, AFI1A	uc003dja.3	Q8IWF6	OTTHUMG00000158639	ENST00000311128.5:c.1465A>T	3.37:g.57616494T>A	ENSP00000311401:p.Thr489Ser	52	0		30	23	NM_152678	0	0	0	6	6	Q7Z5T4|Q8N235|Q8TEG8	Missense_Mutation	SNP	ENST00000311128.5	37	CCDS33773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.38|10.38	1.333267|1.333267	0.24167|0.24167	.|.	.|.	ENSG00000174839|ENSG00000174839	ENST00000471531|ENST00000311128	.|.	.|.	.|.	5.94|5.94	3.61|3.61	0.41365|0.41365	.|.	.|0.088549	.|0.85682	.|D	.|0.000000	T|T	0.19604|0.19604	0.0471|0.0471	N|N	0.03115|0.03115	-0.41|-0.41	0.33862|0.33862	D|D	0.633949|0.633949	.|B	.|0.12630	.|0.006	.|B	.|0.15052	.|0.012	T|T	0.16424|0.16424	-1.0403|-1.0403	5|9	.|0.14656	.|T	.|0.56	-2.536|-2.536	5.986|5.986	0.19434|0.19434	0.0:0.3478:0.0:0.6522|0.0:0.3478:0.0:0.6522	.|.	.|489	.|Q8IWF6	.|F116A_HUMAN	I|S	60|489	.|.	.|ENSP00000311401:T489S	N|T	-|-	2|1	0|0	FAM116A|FAM116A	57591534|57591534	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	1.897000|1.897000	0.39799|0.39799	1.086000|1.086000	0.41228|0.41228	0.455000|0.455000	0.32223|0.32223	AAC|ACA	.		0.358	DENND6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351594.1	NM_152678	
ABHD6	57406	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	58255106	58255106	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:58255106C>T	ENST00000478253.1	+	5	836	c.335C>T	c.(334-336)aCc>aTc	p.T112I	ABHD6_ENST00000295962.4_Missense_Mutation_p.T112I			Q9BV23	ABHD6_HUMAN	abhydrolase domain containing 6	112					long term synaptic depression (GO:0060292)|negative regulation of cell migration (GO:0030336)|regulation of endocannabinoid signaling pathway (GO:2000124)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acylglycerol lipase activity (GO:0047372)			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	16				BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209)		GAGGGCACCACCCGCTCCTCC	0.542																																					p.T112I		.											.	ABHD6-92	0			c.C335T						.						131.0	98.0	109.0					3																	58255106		2203	4300	6503	SO:0001583	missense	57406	exon4			GCACCACCCGCTC	AF225418	CCDS2887.1	3p21.2	2006-03-10			ENSG00000163686	ENSG00000163686		"""Abhydrolase domain containing"""	21398	protein-coding gene	gene with protein product							Standard	NM_020676		Approved		uc003djs.4	Q9BV23	OTTHUMG00000159150	ENST00000478253.1:c.335C>T	3.37:g.58255106C>T	ENSP00000420315:p.Thr112Ile	207	1		173	135	NM_020676	0	0	0	31	31	B2R7Y9|Q6ZMF7	Missense_Mutation	SNP	ENST00000478253.1	37	CCDS2887.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.583575	0.86748	.	.	ENSG00000163686	ENST00000478253;ENST00000295962;ENST00000511761;ENST00000463756;ENST00000485900	T;T;D;D	0.91351	-0.31;-0.31;-2.83;-2.83	6.03	6.03	0.97812	Alpha/beta hydrolase fold-1 (1);	0.000000	0.85682	D	0.000000	D	0.94997	0.8381	M	0.76170	2.325	0.53005	D	0.999964	D;D	0.60575	0.987;0.988	P;P	0.62885	0.908;0.819	D	0.94560	0.7761	10	0.66056	D	0.02	-10.8888	20.1857	0.98214	0.0:1.0:0.0:0.0	.	112;112	Q9BV23;F5H7L1	ABHD6_HUMAN;.	I	112	ENSP00000420315:T112I;ENSP00000295962:T112I;ENSP00000420408:T112I;ENSP00000418934:T112I	ENSP00000295962:T112I	T	+	2	0	ABHD6	58230146	0.997000	0.39634	0.995000	0.50966	0.916000	0.54674	3.693000	0.54735	2.868000	0.98415	0.557000	0.71058	ACC	.		0.542	ABHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353511.1	NM_020676	
PRICKLE2	166336	broad.mit.edu	37	3	64133284	64133284	+	Silent	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:64133284C>T	ENST00000295902.6	-	7	1467	c.882G>A	c.(880-882)ggG>ggA	p.G294G	PRICKLE2_ENST00000564377.1_Silent_p.G350G	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	294	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		GGAATGGCCGCCCCAGGAGGG	0.552																																					p.G294G		.											.	PRICKLE2-95	0			c.G882A						.						70.0	75.0	74.0					3																	64133284		2203	4300	6503	SO:0001819	synonymous_variant	166336	exon7			TGGCCGCCCCAGG	AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"""prickle-like 2 (Drosophila)"""			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.882G>A	3.37:g.64133284C>T		105	0		81	3	NM_198859	0	0	0	0	0	Q0VF44	Silent	SNP	ENST00000295902.6	37	CCDS2902.1																																																																																			.		0.552	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352219.1	NM_198859	
LRIG1	26018	hgsc.bcm.edu	37	3	66550756	66550756	+	Missense_Mutation	SNP	G	G	C	rs1403625	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:66550756G>C	ENST00000273261.3	-	1	600	c.76C>G	c.(76-78)Ctt>Gtt	p.L26V	LRIG1_ENST00000383703.3_Missense_Mutation_p.L26V	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	26				LLL -> VLV (in Ref. 1; AAK62357 and 3; AAH71561). {ECO:0000305}.	innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		TCCAGCCGAAGCAAAAGCAGC	0.761													g|||	3605	0.719848	0.1808	0.8833	5008	,	,		8093	0.8284		0.9732	False		,,,				2504	0.9601				p.L26V		.											.	LRIG1-230	0			c.C76G						.		VAL/LEU	1298,1386		255,788,299	3.0	4.0	4.0		76	2.9	0.5	3	dbSNP_88	4	5191,89		2555,81,4	yes	missense	LRIG1	NM_015541.2	32	2810,869,303	CC,CG,GG		1.6856,48.3607,18.5208	benign	26/1094	66550756	6489,1475	1342	2640	3982	SO:0001583	missense	26018	exon1			GCCGAAGCAAAAG	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"""Immunoglobulin superfamily / I-set domain containing"""	17360	protein-coding gene	gene with protein product	"""ortholog of mouse integral membrane glycoprotein LIG-1"", ""leucine-rich repeat protein LRIG1"""	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.76C>G	3.37:g.66550756G>C	ENSP00000273261:p.Leu26Val	0	0		5	5	NM_015541	0	0	0	0	0	Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Missense_Mutation	SNP	ENST00000273261.3	37	CCDS33783.1	1666	0.7628205128205128	118	0.23983739837398374	325	0.8977900552486188	489	0.8548951048951049	734	0.9683377308707124	g	6.572	0.473779	0.12521	0.483607	0.983144	ENSG00000144749	ENST00000273261;ENST00000383703	T;T	0.67345	-0.26;-0.13	3.84	2.93	0.34026	.	0.847359	0.09512	U	0.792175	T	0.00012	0.0000	N	0.19112	0.55	0.80722	P	0.0	P;P	0.44139	0.827;0.484	B;B	0.37731	0.257;0.096	T	0.48854	-0.8998	9	0.23302	T	0.38	.	8.6883	0.34251	0.1185:0.0:0.8815:0.0	rs1403625;rs13083628	26;26	Q96JA1-2;Q96JA1	.;LRIG1_HUMAN	V	26	ENSP00000273261:L26V;ENSP00000373208:L26V	ENSP00000273261:L26V	L	-	1	0	LRIG1	66633446	.	.	0.520000	0.27837	0.020000	0.10135	.	.	1.845000	0.53610	0.472000	0.43445	CTT	G|0.237;C|0.763		0.761	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541	
LRIG1	26018	hgsc.bcm.edu	37	3	66550762	66550762	+	Missense_Mutation	SNP	G	G	C	rs1403626	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:66550762G>C	ENST00000273261.3	-	1	594	c.70C>G	c.(70-72)Ctt>Gtt	p.L24V	LRIG1_ENST00000383703.3_Missense_Mutation_p.L24V	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	24			L -> V (in dbSNP:rs1403626).	LLL -> VLV (in Ref. 1; AAK62357 and 3; AAH71561). {ECO:0000305}.	innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		CGAAGCAAAAGCAGCCAGAGA	0.766													g|||	3605	0.719848	0.1808	0.8833	5008	,	,		8368	0.8284		0.9732	False		,,,				2504	0.9601				p.L24V		.											.	LRIG1-230	0			c.C70G						.		VAL/LEU	1309,1447		265,779,334	3.0	4.0	4.0		70	3.1	0.5	3	dbSNP_88	4	5325,93		2620,85,4	no	missense	LRIG1	NM_015541.2	32	2885,864,338	CC,CG,GG		1.7165,47.4964,18.8402	benign	24/1094	66550762	6634,1540	1378	2709	4087	SO:0001583	missense	26018	exon1			GCAAAAGCAGCCA	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"""Immunoglobulin superfamily / I-set domain containing"""	17360	protein-coding gene	gene with protein product	"""ortholog of mouse integral membrane glycoprotein LIG-1"", ""leucine-rich repeat protein LRIG1"""	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.70C>G	3.37:g.66550762G>C	ENSP00000273261:p.Leu24Val	0	0		5	5	NM_015541	0	0	0	0	0	Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Missense_Mutation	SNP	ENST00000273261.3	37	CCDS33783.1	1670	0.7646520146520146	119	0.241869918699187	326	0.9005524861878453	488	0.8531468531468531	737	0.9722955145118733	g	9.592	1.126319	0.20959	0.474964	0.982835	ENSG00000144749	ENST00000273261;ENST00000383703	T;T	0.68765	-0.35;-0.2	3.11	3.11	0.35812	.	0.429988	0.15146	U	0.278020	T	0.00012	0.0000	N	0.19112	0.55	0.39998	P	0.024872000000000005	P;B	0.36282	0.546;0.282	B;B	0.32465	0.146;0.069	T	0.40572	-0.9556	9	0.23891	T	0.37	.	12.0321	0.53403	0.0:0.0:1.0:0.0	rs1403626;rs13083630;rs1403626	24;24	Q96JA1-2;Q96JA1	.;LRIG1_HUMAN	V	24	ENSP00000273261:L24V;ENSP00000373208:L24V	ENSP00000273261:L24V	L	-	1	0	LRIG1	66633452	.	.	0.546000	0.28166	0.017000	0.09413	.	.	1.734000	0.51633	0.472000	0.43445	CTT	G|0.252;C|0.748		0.766	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541	
CNTN3	5067	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	74548830	74548830	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:74548830G>A	ENST00000263665.6	-	2	189	c.162C>T	c.(160-162)ggC>ggT	p.G54G		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	54	Ig-like C2-type 1.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		GTGATGGATTGCCTCTTGCTT	0.333																																					p.G54G		.											.	CNTN3-137	0			c.C162T						.						91.0	92.0	92.0					3																	74548830		2203	4300	6503	SO:0001819	synonymous_variant	5067	exon2			TGGATTGCCTCTT	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.162C>T	3.37:g.74548830G>A		42	1		16	14	NM_020872	0	0	0	0	0	B9EK50|Q9H039	Silent	SNP	ENST00000263665.6	37	CCDS33790.1																																																																																			.		0.333	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872	
ROBO2	6092	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	77147394	77147394	+	Silent	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:77147394C>T	ENST00000461745.1	+	2	1191	c.291C>T	c.(289-291)caC>caT	p.H97H	ROBO2_ENST00000487694.3_Silent_p.H113H|ROBO2_ENST00000332191.8_Silent_p.H97H	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	97	Ig-like C2-type 1.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GCATCGTGCACGGGCGCAGGA	0.537																																					p.H97H		.											.	ROBO2-328	0			c.C291T						.						93.0	97.0	96.0					3																	77147394		2040	4194	6234	SO:0001819	synonymous_variant	6092	exon2			CGTGCACGGGCGC	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.291C>T	3.37:g.77147394C>T		333	0		246	206	NM_002942	0	0	0	0	0	O43608|Q19AB4|Q19AB5	Silent	SNP	ENST00000461745.1	37	CCDS43109.1																																																																																			.		0.537	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246	
GBE1	2632	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	3	81635291	81635291	+	Silent	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:81635291A>G	ENST00000429644.2	-	10	1930	c.1287T>C	c.(1285-1287)ggT>ggC	p.G429G	GBE1_ENST00000489715.1_Silent_p.G388G	NM_000158.3	NP_000149	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	429					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	1,4-alpha-glucan branching enzyme activity (GO:0003844)|cation binding (GO:0043169)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		AGTCAAAACCACCCCCTCCCT	0.398									Glycogen Storage Disease, type IV																												p.G429G		.											.	GBE1-25	0			c.T1287C						.						126.0	124.0	125.0					3																	81635291		1863	4096	5959	SO:0001819	synonymous_variant	2632	exon10	Familial Cancer Database	Andersen Disease, Brancher deficiency	AAAACCACCCCCT		CCDS54612.1	3p12.2	2013-09-20	2008-08-01		ENSG00000114480	ENSG00000114480	2.4.1.18		4180	protein-coding gene	gene with protein product	"""glycogen branching enzyme"", ""Andersen disease"", ""glycogen storage disease type IV"""	607839				8463281	Standard	NM_000158		Approved		uc021xav.1	Q04446	OTTHUMG00000158978	ENST00000429644.2:c.1287T>C	3.37:g.81635291A>G		50	0		34	27	NM_000158	0	0	1	75	74	B3KWV3|Q96EN0	Silent	SNP	ENST00000429644.2	37	CCDS54612.1																																																																																			.		0.398	GBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352760.2		
ABI3BP	25890	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	100508327	100508327	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:100508327C>T	ENST00000284322.5	-	24	2109	c.2000G>A	c.(1999-2001)aGa>aAa	p.R667K	ABI3BP_ENST00000471714.1_Missense_Mutation_p.R1344K|ABI3BP_ENST00000383691.4_Missense_Mutation_p.R621K	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	667	Pro-rich.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						GTCAGATGTTCTGGGCCTCAC	0.413																																					p.R667K		.											.	ABI3BP-138	0			c.G2000A						.						77.0	70.0	72.0					3																	100508327		1862	4110	5972	SO:0001583	missense	25890	exon24			GATGTTCTGGGCC	AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"""Fibronectin type III domain containing"""	17265	protein-coding gene	gene with protein product	"""target of Nesh-SH3"""	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.2000G>A	3.37:g.100508327C>T	ENSP00000284322:p.Arg667Lys	77	2		42	40	NM_015429	0	0	0	4	4	B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Missense_Mutation	SNP	ENST00000284322.5	37	CCDS46880.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.09|14.09	2.431365|2.431365	0.43122|0.43122	.|.	.|.	ENSG00000154175|ENSG00000154175	ENST00000495591;ENST00000471901|ENST00000471714;ENST00000284322;ENST00000383692;ENST00000429331;ENST00000383691;ENST00000486770	.|T;T;T	.|0.25912	.|2.15;1.77;1.77	5.7|5.7	4.83|4.83	0.62350|0.62350	.|.	.|0.384339	.|0.27420	.|N	.|0.019457	T|T	0.16811|0.16811	0.0404|0.0404	L|L	0.47716|0.47716	1.5|1.5	0.33053|0.33053	D|D	0.533035|0.533035	.|P;B;B;B	.|0.35612	.|0.512;0.008;0.14;0.091	.|B;B;B;B	.|0.25884	.|0.054;0.015;0.064;0.045	T|T	0.13098|0.13098	-1.0522|-1.0522	5|10	.|0.07325	.|T	.|0.83	-15.7812|-15.7812	10.9651|10.9651	0.47408|0.47408	0.0:0.9134:0.0:0.0866|0.0:0.9134:0.0:0.0866	.|.	.|621;667;1344;351	.|B4DSV9;Q7Z7G0;D3YTG3;D3YTD6	.|.;TARSH_HUMAN;.;.	K|K	723;247|1344;667;351;53;621;79	.|ENSP00000420524:R1344K;ENSP00000284322:R667K;ENSP00000373189:R621K	.|ENSP00000284322:R667K	E|R	-|-	1|2	0|0	ABI3BP|ABI3BP	101991017|101991017	0.992000|0.992000	0.36948|0.36948	0.969000|0.969000	0.41365|0.41365	0.560000|0.560000	0.35617|0.35617	1.957000|1.957000	0.40392|0.40392	1.550000|1.550000	0.49438|0.49438	0.591000|0.591000	0.81541|0.81541	GAA|AGA	.		0.413	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353260.1		
CFAP44	55779	bcgsc.ca	37	3	113145006	113145006	+	Silent	SNP	C	C	T	rs73239107	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:113145006C>T	ENST00000295868.2	-	4	534	c.372G>A	c.(370-372)ctG>ctA	p.L124L	WDR52-AS1_ENST00000473329.1_RNA|WDR52-AS1_ENST00000498480.1_RNA|WDR52_ENST00000393845.2_Silent_p.L124L	NM_018338.3	NP_060808.2														breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						TGTTTGAATCCAGAGTCACAA	0.403													C|||	1050	0.209665	0.0159	0.2421	5008	,	,		19072	0.4067		0.2107	False		,,,				2504	0.2444				p.L124L		.											.	WDR52-90	0			c.G372A						.	C	,	233,4173	138.8+/-174.5	5,223,1975	235.0	238.0	237.0		372,372	-11.7	0.0	3	dbSNP_130	237	1633,6967	301.3+/-305.4	155,1323,2822	no	coding-synonymous,coding-synonymous	WDR52	NM_001164496.1,NM_018338.3	,	160,1546,4797	TT,TC,CC		18.9884,5.2882,14.3472	,	124/1855,124/983	113145006	1866,11140	2203	4300	6503	SO:0001819	synonymous_variant	55779	exon4			TGAATCCAGAGTC																												ENST00000295868.2:c.372G>A	3.37:g.113145006C>T		159	0		118	5	NM_001164496	0	0	0	0	0		Silent	SNP	ENST00000295868.2	37	CCDS2972.1																																																																																			C|0.832;T|0.168		0.403	WDR52-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354128.3		
LSAMP	4045	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	115529261	115529261	+	Splice_Site	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:115529261C>T	ENST00000490035.2	-	7	1419	c.920G>A	c.(919-921)aGa>aAa	p.R307K	LSAMP_ENST00000539563.1_Splice_Site_p.G327E	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	307					cell adhesion (GO:0007155)|locomotory exploration behavior (GO:0035641)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		CGACCCAGGTCCTGCAGAGCA	0.498																																					p.R307K		.											.	LSAMP-90	0			c.G920A						.						42.0	42.0	42.0					3																	115529261		2203	4300	6503	SO:0001630	splice_region_variant	4045	exon7			CCAGGTCCTGCAG	U41901	CCDS2982.1	3q13.2-q21	2013-01-11			ENSG00000185565	ENSG00000185565		"""Immunoglobulin superfamily / I-set domain containing"""	6705	protein-coding gene	gene with protein product	"""IgLON family member 3"""	603241				9615236	Standard	NM_002338		Approved	LAMP, IGLON3	uc003ebs.3	Q13449	OTTHUMG00000159308	ENST00000490035.2:c.920-1G>A	3.37:g.115529261C>T		186	0		130	107	NM_002338	0	0	0	0	0	Q8IV49	Missense_Mutation	SNP	ENST00000490035.2	37	CCDS2982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.71|17.71	3.456416|3.456416	0.63401|0.63401	.|.	.|.	ENSG00000185565|ENSG00000185565	ENST00000333617;ENST00000539563|ENST00000490035	T;T|T	0.56941|0.50548	0.46;0.43|0.74	6.07|6.07	6.07|6.07	0.98685|0.98685	.|.	.|0.304686	.|0.30244	.|N	.|0.010068	T|T	0.29652|0.29652	0.0740|0.0740	N|N	0.08118|0.08118	0|0	0.49389|0.49389	D|D	0.999788|0.999788	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	T|T	0.24297|0.24297	-1.0164|-1.0164	7|10	0.72032|0.06757	D|T	0.01|0.87	.|.	20.6439|20.6439	0.99570|0.99570	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|307	.|Q13449	.|LSAMP_HUMAN	E|K	314;327|307	ENSP00000328455:G314E;ENSP00000443429:G327E|ENSP00000419000:R307K	ENSP00000328455:G314E|ENSP00000419000:R307K	G|R	-|-	2|2	0|0	LSAMP|LSAMP	117011951|117011951	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	5.047000|5.047000	0.64232|0.64232	2.884000|2.884000	0.98904|0.98904	0.655000|0.655000	0.94253|0.94253	GGA|AGA	.		0.498	LSAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354495.4	NM_002338	Missense_Mutation
LRRC58	116064	hgsc.bcm.edu	37	3	120068007	120068007	+	Silent	SNP	C	C	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:120068007C>A	ENST00000295628.3	-	1	179	c.84G>T	c.(82-84)ctG>ctT	p.L28L	RP11-174O3.3_ENST00000494869.1_RNA	NM_001099678.1	NP_001093148.1	Q96CX6	LRC58_HUMAN	leucine rich repeat containing 58	28										large_intestine(2)|lung(5)	7				GBM - Glioblastoma multiforme(114;0.147)		GCTCAGACTCCAGCGTCTCGG	0.741																																					p.L28L		.											.	.	0			c.G84T						.						2.0	2.0	2.0					3																	120068007		1502	3215	4717	SO:0001819	synonymous_variant	116064	exon1			AGACTCCAGCGTC	BC013757	CCDS46892.1	3q13.33	2006-01-06			ENSG00000163428	ENSG00000163428			26968	protein-coding gene	gene with protein product							Standard	NM_001099678		Approved		uc003edr.2	Q96CX6	OTTHUMG00000159407	ENST00000295628.3:c.84G>T	3.37:g.120068007C>A		0	0		6	6	NM_001099678	0	0	0	0	0		Silent	SNP	ENST00000295628.3	37	CCDS46892.1																																																																																			.		0.741	LRRC58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355142.1	XM_057296	
LRRC58	116064	hgsc.bcm.edu	37	3	120068022	120068022	+	Silent	SNP	C	C	G	rs6770482	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:120068022C>G	ENST00000295628.3	-	1	164	c.69G>C	c.(67-69)gtG>gtC	p.V23V	RP11-174O3.3_ENST00000494869.1_RNA	NM_001099678.1	NP_001093148.1	Q96CX6	LRC58_HUMAN	leucine rich repeat containing 58	23										large_intestine(2)|lung(5)	7				GBM - Glioblastoma multiforme(114;0.147)		TCTCGGTGGACACGCTGAGGC	0.741													C|||	1050	0.209665	0.3933	0.2968	5008	,	,		12008	0.0962		0.0755	False		,,,				2504	0.1544				p.V23V		.											.	.	0			c.G69C						.	C		576,2498		28,520,989	2.0	2.0	2.0		69	4.5	1.0	3	dbSNP_116	2	392,6042		8,376,2833	no	coding-synonymous	LRRC58	NM_001099678.1		36,896,3822	GG,GC,CC		6.0926,18.7378,10.1809		23/372	120068022	968,8540	1537	3217	4754	SO:0001819	synonymous_variant	116064	exon1			GGTGGACACGCTG	BC013757	CCDS46892.1	3q13.33	2006-01-06			ENSG00000163428	ENSG00000163428			26968	protein-coding gene	gene with protein product							Standard	NM_001099678		Approved		uc003edr.2	Q96CX6	OTTHUMG00000159407	ENST00000295628.3:c.69G>C	3.37:g.120068022C>G		0	0		6	6	NM_001099678	0	0	0	0	0		Silent	SNP	ENST00000295628.3	37	CCDS46892.1																																																																																			C|0.826;G|0.174		0.741	LRRC58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355142.1	XM_057296	
OSBPL11	114885	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	125298757	125298757	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:125298757G>A	ENST00000296220.5	-	3	650	c.361C>T	c.(361-363)Cac>Tac	p.H121Y		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	121	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|positive regulation of sequestering of triglyceride (GO:0010890)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)			NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						GTGAAGGTGTGAGAATCCTCA	0.398																																					p.H121Y		.											.	OSBPL11-135	0			c.C361T						.						142.0	143.0	142.0					3																	125298757		2203	4300	6503	SO:0001583	missense	114885	exon3			AGGTGTGAGAATC	AF392454	CCDS3033.1	3q21	2013-01-10			ENSG00000144909	ENSG00000144909		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16397	protein-coding gene	gene with protein product		606739					Standard	NM_022776		Approved	ORP-11, ORP11, FLJ13012, FLJ13164	uc003eic.3	Q9BXB4	OTTHUMG00000159571	ENST00000296220.5:c.361C>T	3.37:g.125298757G>A	ENSP00000296220:p.His121Tyr	72	0		41	32	NM_022776	0	0	0	12	12	A8K9I7	Missense_Mutation	SNP	ENST00000296220.5	37	CCDS3033.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.138666	0.77775	.	.	ENSG00000144909	ENST00000296220	T	0.75477	-0.94	5.07	5.07	0.68467	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.103999	0.64402	D	0.000004	T	0.73087	0.3542	N	0.16708	0.43	0.80722	D	1	D	0.65815	0.995	D	0.68192	0.956	T	0.65651	-0.6116	10	0.02654	T	1	0.0854	18.6341	0.91371	0.0:0.0:1.0:0.0	.	121	Q9BXB4	OSB11_HUMAN	Y	121	ENSP00000296220:H121Y	ENSP00000296220:H121Y	H	-	1	0	OSBPL11	126781447	1.000000	0.71417	0.980000	0.43619	0.984000	0.73092	9.587000	0.98229	2.628000	0.89032	0.655000	0.94253	CAC	.		0.398	OSBPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356295.1	NM_022776	
ISY1	57461	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	128853775	128853775	+	Silent	SNP	T	T	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:128853775T>A	ENST00000393295.3	-	8	758	c.441A>T	c.(439-441)acA>acT	p.T147T	ISY1_ENST00000471497.1_Intron|ISY1_ENST00000273541.8_Silent_p.T169T|ISY1_ENST00000393292.3_Silent_p.T147T|ISY1-RAB43_ENST00000418265.1_Silent_p.T147T	NM_001199469.1|NM_020701.3	NP_001186398.1|NP_065752.1	Q9ULR0	ISY1_HUMAN	ISY1 splicing factor homolog (S. cerevisiae)	147					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|skin(1)	15						GCTCAGCACGTGTCTTTCTGG	0.428																																					p.T169T		.											.	ISY1-90	0			c.A507T						.						110.0	107.0	108.0					3																	128853775		1971	4171	6142	SO:0001819	synonymous_variant	57461	exon9			AGCACGTGTCTTT		CCDS43149.1, CCDS56277.1	3q21.3	2008-11-25			ENSG00000240682	ENSG00000240682			29201	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 33"""	612764				16103217	Standard	NM_020701		Approved	KIAA1160, fSAP33		Q9ULR0	OTTHUMG00000137365	ENST00000393295.3:c.441A>T	3.37:g.128853775T>A		88	0		38	27	NM_001199469	0	0	11	53	42	Q96IL2|Q9BT05	Silent	SNP	ENST00000393295.3	37	CCDS43149.1																																																																																			.		0.428	ISY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267856.1	NM_020701	
TMCC1	23023	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	129546844	129546844	+	Silent	SNP	G	G	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:129546844G>T	ENST00000393238.3	-	3	718	c.378C>A	c.(376-378)ggC>ggA	p.G126G	TMCC1_ENST00000426664.2_Silent_p.G12G	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	126						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						CCTCTGGCTTGCCCCGCCTAC	0.562																																					p.G126G		.											.	TMCC1-91	0			c.C378A						.						102.0	94.0	97.0					3																	129546844		2203	4300	6503	SO:0001819	synonymous_variant	23023	exon3			TGGCTTGCCCCGC	AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"""Transmembrane and coiled-coil domain containing"""	29116	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 1"""			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.378C>A	3.37:g.129546844G>T		95	1		59	41	NM_001017395	0	0	1	7	6	A8K5Y3|B4DE04|Q68E06|Q8IXM8	Silent	SNP	ENST00000393238.3	37	CCDS33855.1																																																																																			.		0.562	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	NM_015008	
ATP2C1	27032	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	130720162	130720162	+	Missense_Mutation	SNP	A	A	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:130720162A>C	ENST00000510168.1	+	28	3278	c.2728A>C	c.(2728-2730)Agt>Cgt	p.S910R	ATP2C1_ENST00000505330.1_Missense_Mutation_p.S894R|ATP2C1_ENST00000422190.2_Intron|ATP2C1_ENST00000507488.2_Intron|ATP2C1_ENST00000504948.1_Missense_Mutation_p.S894R|ATP2C1_ENST00000533801.2_Missense_Mutation_p.S905R|ATP2C1_ENST00000359644.3_Missense_Mutation_p.S910R|ATP2C1_ENST00000513801.1_Intron|ATP2C1_ENST00000428331.2_Missense_Mutation_p.S910R|ATP2C1_ENST00000504381.1_Missense_Mutation_p.S855R|ATP2C1_ENST00000393221.4_Intron|ATP2C1_ENST00000328560.8_Intron|ATP2C1_ENST00000508532.1_Missense_Mutation_p.S910R			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	910					actin cytoskeleton reorganization (GO:0031532)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cellular calcium ion homeostasis (GO:0006874)|cellular manganese ion homeostasis (GO:0030026)|epidermis development (GO:0008544)|Golgi calcium ion homeostasis (GO:0032468)|Golgi calcium ion transport (GO:0032472)|ion transmembrane transport (GO:0034220)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|manganese ion binding (GO:0030145)|manganese-transporting ATPase activity (GO:0015410)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GAAGCATGTTAGTTCGACATC	0.378									Hailey-Hailey disease																												p.S944R	Esophageal Squamous(99;456 1443 27647 34099 42636)	.											.	ATP2C1-91	0			c.A2830C						.						167.0	151.0	156.0					3																	130720162		2203	4300	6503	SO:0001583	missense	27032	exon27	Familial Cancer Database	HHD, Familial Benign Chronic Pemphigus, Benign Familial Pemphigus	CATGTTAGTTCGA	AF181120	CCDS33856.1, CCDS46912.1, CCDS46913.1, CCDS46914.1, CCDS56278.1, CCDS56279.1, CCDS56280.1, CCDS56281.1, CCDS75006.1	3q21.3	2012-10-22			ENSG00000017260	ENSG00000017260	3.6.3.8	"""ATPases / P-type"""	13211	protein-coding gene	gene with protein product	"""secretory pathway Ca2+/Mn2+ ATPase 1"", ""calcium-transporting ATPase type 2C member 1"""	604384	"""benign chronic pemphigus (Hailey-Hailey disease)"""	BCPM		10615129, 10767338	Standard	NM_001001485		Approved	KIAA1347, ATP2C1A, PMR1, SPCA1	uc011bli.2	P98194	OTTHUMG00000136802	ENST00000510168.1:c.2728A>C	3.37:g.130720162A>C	ENSP00000427461:p.Ser910Arg	96	1		83	60	NM_001199181	0	0	4	30	26	B2RAT7|B4DSW3|B7Z3X9|G3XAH8|G8JLN9|O76005|Q86V72|Q86V73|Q8N6V1|Q8NCJ7	Missense_Mutation	SNP	ENST00000510168.1	37	CCDS46914.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	2.135|2.135	-0.398200|-0.398200	0.04865|0.04865	.|.	.|.	ENSG00000017260|ENSG00000017260	ENST00000504612|ENST00000505330;ENST00000504381;ENST00000533801;ENST00000510168;ENST00000508532;ENST00000504948;ENST00000428331;ENST00000359644;ENST00000347421	.|D;D;D;D;D;D;D;D	.|0.92348	.|-2.98;-3.01;-3.02;-2.98;-2.98;-2.98;-2.98;-2.97	5.59|5.59	-0.109|-0.109	0.13584|0.13584	.|.	.|0.648064	.|0.12869	.|N	.|0.432494	D|D	0.86130|0.86130	0.5859|0.5859	L|L	0.48642|0.48642	1.525|1.525	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.02656	.|0.0;0.0;0.0	.|B;B;B	.|0.01281	.|0.0;0.0;0.0	T|T	0.72956|0.72956	-0.4134|-0.4134	5|10	.|0.33141	.|T	.|0.24	.|.	6.3027|6.3027	0.21121|0.21121	0.6182:0.2457:0.1361:0.0|0.6182:0.2457:0.1361:0.0	.|.	.|905;944;910	.|B4DSW3;B4E2Q0;P98194	.|.;.;AT2C1_HUMAN	F|R	863|894;855;905;910;910;894;910;910;909	.|ENSP00000423774:S894R;ENSP00000425320:S855R;ENSP00000432956:S905R;ENSP00000427461:S910R;ENSP00000424783:S910R;ENSP00000423330:S894R;ENSP00000395809:S910R;ENSP00000352665:S910R	.|ENSP00000306816:S909R	L|S	+|+	3|1	2|0	ATP2C1|ATP2C1	132202852|132202852	1.000000|1.000000	0.71417|0.71417	0.000000|0.000000	0.03702|0.03702	0.027000|0.027000	0.11550|0.11550	2.770000|2.770000	0.47662|0.47662	0.113000|0.113000	0.18004|0.18004	0.528000|0.528000	0.53228|0.53228	TTA|AGT	.		0.378	ATP2C1-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356648.2	NM_001001486	
DNAJC13	23317	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	132179933	132179933	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:132179933G>A	ENST00000260818.6	+	15	1845	c.1597G>A	c.(1597-1599)Gac>Aac	p.D533N	DNAJC13_ENST00000486798.1_3'UTR	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	533					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TTCGCTCTTGGACTTCCTTAC	0.438																																					p.D533N		.											.	DNAJC13-272	0			c.G1597A						.						230.0	183.0	199.0					3																	132179933		2203	4300	6503	SO:0001583	missense	23317	exon15			CTCTTGGACTTCC	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"""Heat shock proteins / DNAJ (HSP40)"""	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.1597G>A	3.37:g.132179933G>A	ENSP00000260818:p.Asp533Asn	160	0		100	81	NM_015268	0	0	1	3	2	Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	ENST00000260818.6	37	CCDS33857.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.009097	0.93346	.	.	ENSG00000138246	ENST00000260818	T	0.34667	1.35	5.43	5.43	0.79202	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.61565	0.2357	M	0.70842	2.15	0.80722	D	1	P;D	0.89917	0.846;1.0	P;D	0.80764	0.571;0.994	T	0.60161	-0.7317	10	0.48119	T	0.1	.	19.596	0.95538	0.0:0.0:1.0:0.0	.	533;533	A7E2Y5;O75165	.;DJC13_HUMAN	N	533	ENSP00000260818:D533N	ENSP00000260818:D533N	D	+	1	0	DNAJC13	133662623	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.694000	0.98686	2.709000	0.92574	0.563000	0.77884	GAC	.		0.438	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268	
ACKR4	51554	hgsc.bcm.edu	37	3	132321037	132321037	+	3'UTR	DEL	A	A	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:132321037delA	ENST00000249887.2	+	0	1892				ACAD11_ENST00000355458.3_Intron|ACAD11_ENST00000264990.6_Intron|ACAD11_ENST00000545291.1_Intron	NM_016557.2|NM_178445.2	NP_057641.1|NP_848540.1	Q9NPB9	ACKR4_HUMAN	atypical chemokine receptor 4						chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|scavenger receptor activity (GO:0005044)										AAAAAGCAATAAAAAAAAAAC	0.274																																					.		.											.	CCRL1-658	0			.						.																																			SO:0001624	3_prime_UTR_variant	51554	.			AGCAATAAAAAAA	AF110640	CCDS3075.1	3q22	2013-07-17	2013-07-16	2013-07-16	ENSG00000129048	ENSG00000129048		"""GPCR / Class A : Chemokine receptors : Atypical"""	1611	protein-coding gene	gene with protein product		606065	"""chemokine (C-C motif) receptor-like 1"""	CCRL1		10767544, 16148	Standard	NM_016557		Approved	CCR11, CCBP2, VSHK1, CCX-CKR, PPR1	uc003eow.3	Q9NPB9	OTTHUMG00000159768	ENST00000249887.2:c.*743A>-	3.37:g.132321037delA		38	0		18	10	.	0	0	0	0	0	B2R9U7	RNA	DEL	ENST00000249887.2	37	CCDS3075.1																																																																																			.		0.274	ACKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357238.2	NM_016557	
TF	7018	ucsc.edu;bcgsc.ca	37	3	133467410	133467410	+	Missense_Mutation	SNP	T	T	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:133467410T>A	ENST00000402696.3	+	2	683	c.198T>A	c.(196-198)gaT>gaA	p.D66E	TF_ENST00000475382.1_3'UTR|TF_ENST00000264998.3_Intron|TFP1_ENST00000460564.1_RNA	NM_001063.3	NP_001054	P02787	TRFE_HUMAN	transferrin	66	Transferrin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00741}.				blood coagulation (GO:0007596)|cellular iron ion homeostasis (GO:0006879)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|retina homeostasis (GO:0001895)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|basal plasma membrane (GO:0009925)|blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|secretory granule lumen (GO:0034774)|vesicle (GO:0031982)	ferric iron binding (GO:0008199)			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth Subsalicylate(DB01294)|Gallium nitrate(DB05260)|Iron Dextran(DB00893)	CCTACCTTGATTGCATCAGGG	0.473																																					p.D66E		.											.	TF-92	0			c.T198A						.						150.0	118.0	129.0					3																	133467410		2203	4300	6503	SO:0001583	missense	7018	exon2			CCTTGATTGCATC		CCDS3080.1	3q21	2012-10-02			ENSG00000091513	ENSG00000091513			11740	protein-coding gene	gene with protein product		190000				6585826	Standard	NM_001063		Approved	PRO1557, PRO2086	uc003epv.2	P02787	OTTHUMG00000150356	ENST00000402696.3:c.198T>A	3.37:g.133467410T>A	ENSP00000385834:p.Asp66Glu	299	2		216	165	NM_001063	0	0	0	0	0	O43890|Q1HBA5|Q9NQB8|Q9UHV0	Missense_Mutation	SNP	ENST00000402696.3	37	CCDS3080.1	.	.	.	.	.	.	.	.	.	.	T	2.371	-0.344373	0.05208	.	.	ENSG00000091513	ENST00000402696;ENST00000466911	T;T	0.32753	1.44;1.53	5.11	-9.21	0.00678	.	0.401820	0.30850	N	0.008747	T	0.07234	0.0183	N	0.05259	-0.085	0.80722	D	1	B	0.10296	0.003	B	0.10450	0.005	T	0.42275	-0.9461	10	0.02654	T	1	-26.5234	5.4224	0.16407	0.0726:0.3985:0.1233:0.4056	.	66	P02787	TRFE_HUMAN	E	66;22	ENSP00000385834:D66E;ENSP00000417468:D22E	ENSP00000385834:D66E	D	+	3	2	TF	134950100	0.131000	0.22433	0.077000	0.20336	0.030000	0.12068	-1.135000	0.03225	-1.774000	0.01288	-0.371000	0.07208	GAT	.		0.473	TF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317775.1	NM_001063	
TSC22D2	9819	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	3	150127417	150127417	+	Missense_Mutation	SNP	C	C	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:150127417C>A	ENST00000361875.3	+	1	1296	c.280C>A	c.(280-282)Ctg>Atg	p.L94M	TSC22D2_ENST00000361136.2_Missense_Mutation_p.L94M	NM_014779.2	NP_055594.1	O75157	T22D2_HUMAN	TSC22 domain family, member 2	94					response to osmotic stress (GO:0006970)		sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			AGATGGGCAGCTGGCAGCGGC	0.672																																					p.L94M		.											.	TSC22D2-91	0			c.C280A						.						13.0	16.0	15.0					3																	150127417		2199	4295	6494	SO:0001583	missense	9819	exon1			GGGCAGCTGGCAG	AB014569	CCDS3149.1	3q25.1	2005-03-01			ENSG00000196428	ENSG00000196428			29095	protein-coding gene	gene with protein product						9734811	Standard	NM_014779		Approved	KIAA0669, TILZ4a, TILZ4b, TILZ4c	uc003exv.3	O75157	OTTHUMG00000159744	ENST00000361875.3:c.280C>A	3.37:g.150127417C>A	ENSP00000354543:p.Leu94Met	93	0		67	54	NM_014779	0	0	0	0	0	D3DNI5|Q6PI50|Q9H2Z6|Q9H2Z7|Q9H2Z8	Missense_Mutation	SNP	ENST00000361875.3	37	CCDS3149.1	.	.	.	.	.	.	.	.	.	.	c	16.07	3.019195	0.54576	.	.	ENSG00000196428	ENST00000361875;ENST00000361136	T;T	0.34472	1.37;1.36	4.44	2.27	0.28462	.	0.470634	0.15951	N	0.236703	T	0.45115	0.1326	L	0.40543	1.245	0.25394	N	0.988503	D;D	0.76494	0.999;0.998	D;D	0.73380	0.98;0.915	T	0.14227	-1.0480	10	0.45353	T	0.12	.	7.8203	0.29284	0.0:0.6591:0.0:0.3409	.	94;94	O75157-2;O75157	.;T22D2_HUMAN	M	94	ENSP00000354543:L94M;ENSP00000354893:L94M	ENSP00000354893:L94M	L	+	1	2	TSC22D2	151610107	0.999000	0.42202	1.000000	0.80357	0.972000	0.66771	0.824000	0.27379	0.866000	0.35629	0.645000	0.84053	CTG	.		0.672	TSC22D2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357123.2	NM_014779	
CCNL1	57018	hgsc.bcm.edu;mdanderson.org	37	3	156877880	156877880	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:156877880C>T	ENST00000295926.3	-	1	122	c.4G>A	c.(4-6)Gcg>Acg	p.A2T	CCNL1_ENST00000295925.4_Missense_Mutation_p.A2T|CCNL1_ENST00000461804.1_Missense_Mutation_p.A2T	NM_020307.2	NP_064703.1	Q9UK58	CCNL1_HUMAN	cyclin L1	2					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)|nucleus (GO:0005634)				NS(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)			GGCCCGGACGCCATAGTCTTA	0.677																																					p.A2T		.											.	CCNL1-659	0			c.G4A						.						4.0	6.0	5.0					3																	156877880		2041	4081	6122	SO:0001583	missense	57018	exon1			CGGACGCCATAGT	AF180920	CCDS3178.1	3q25.31	2008-02-05			ENSG00000163660	ENSG00000163660			20569	protein-coding gene	gene with protein product		613384				11980906	Standard	NM_020307		Approved	ania-6a	uc003fbf.3	Q9UK58	OTTHUMG00000158713	ENST00000295926.3:c.4G>A	3.37:g.156877880C>T	ENSP00000295926:p.Ala2Thr	8	0		38	30	NM_020307	0	0	0	9	9	B3KMY3|Q6NVY9|Q6UWS7|Q8NI48|Q96QT0|Q9NZF3	Missense_Mutation	SNP	ENST00000295926.3	37	CCDS3178.1	.	.	.	.	.	.	.	.	.	.	C	17.98	3.521148	0.64747	.	.	ENSG00000163660	ENST00000461804;ENST00000295926;ENST00000295925	T;T;T	0.52754	1.72;1.78;0.65	4.1	4.1	0.47936	.	1.131440	0.07255	U	0.866603	T	0.41442	0.1159	L	0.29908	0.895	0.28714	N	0.903376	B;B	0.14438	0.01;0.01	B;B	0.08055	0.003;0.003	T	0.33111	-0.9881	10	0.87932	D	0	-10.552	13.701	0.62608	0.0:1.0:0.0:0.0	.	2;2	Q9UK58;C9JPL0	CCNL1_HUMAN;.	T	2	ENSP00000420277:A2T;ENSP00000295926:A2T;ENSP00000295925:A2T	ENSP00000295925:A2T	A	-	1	0	CCNL1	158360574	0.984000	0.35163	1.000000	0.80357	0.759000	0.43091	0.378000	0.20569	2.256000	0.74724	0.650000	0.86243	GCG	.		0.677	CCNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351859.1	NM_020307	
TRIM59	286827	broad.mit.edu	37	3	160156368	160156368	+	Frame_Shift_Del	DEL	T	T	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:160156368delT	ENST00000309784.4	-	3	789	c.604delA	c.(604-606)agtfs	p.S202fs	TRIM59_ENST00000543469.1_Frame_Shift_Del_p.S202fs|RP11-432B6.3_ENST00000483754.1_Frame_Shift_Del_p.S202fs	NM_173084.2	NP_775107.1	Q8IWR1	TRI59_HUMAN	tripartite motif containing 59	202					innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of viral entry into host cell (GO:0046597)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S202fs*3(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(3)	15			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GTTAGGAAACTTTTTTTTTTC	0.343																																					p.S202fs		.											.	TRIM59-658	1	Deletion - Frameshift(1)	ovary(1)	c.604delA						.						59.0	62.0	61.0					3																	160156368		2195	4299	6494	SO:0001589	frameshift_variant	286827	exon3			GGAAACTTTTTTT	AY159379	CCDS3190.1	3q26	2013-01-09	2011-01-25		ENSG00000213186	ENSG00000213186		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	30834	protein-coding gene	gene with protein product			"""tripartite motif-containing 57"", ""tripartite motif-containing 59"""	TRIM57		12095697	Standard	NM_173084		Approved	TSBF1, Mrf1, RNF104	uc003fdm.3	Q8IWR1	OTTHUMG00000159034	ENST00000309784.4:c.604delA	3.37:g.160156368delT	ENSP00000311219:p.Ser202fs	41	0		44	29	NM_173084	0	0	0	0	0	A8K5G9|D3DNL9	Frame_Shift_Del	DEL	ENST00000309784.4	37	CCDS3190.1																																																																																			.		0.343	TRIM59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352963.1	NM_173084	
SLITRK3	22865	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	164905717	164905717	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:164905717C>T	ENST00000475390.1	-	2	3345	c.2902G>A	c.(2902-2904)Gaa>Aaa	p.E968K	SLITRK3_ENST00000241274.3_Missense_Mutation_p.E968K			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	968					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.E968*(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TCCAGGACTTCGAGGTAATCC	0.388										HNSCC(40;0.11)																											p.E968K		.											.	SLITRK3-100	1	Substitution - Nonsense(1)	ovary(1)	c.G2902A						.						135.0	134.0	134.0					3																	164905717		2203	4300	6503	SO:0001583	missense	22865	exon2			GGACTTCGAGGTA	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.2902G>A	3.37:g.164905717C>T	ENSP00000420091:p.Glu968Lys	130	1		73	55	NM_014926	0	0	0	0	0	Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	37	CCDS3197.1	.	.	.	.	.	.	.	.	.	.	C	18.84	3.708598	0.68615	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.65916	-0.18;-0.18	5.97	5.97	0.96955	.	0.000000	0.35708	N	0.003029	T	0.76248	0.3961	L	0.49778	1.585	0.58432	D	0.999999	D	0.76494	0.999	D	0.68621	0.959	T	0.76313	-0.3005	10	0.87932	D	0	-13.5308	20.4388	0.99107	0.0:1.0:0.0:0.0	.	968	O94933	SLIK3_HUMAN	K	968	ENSP00000420091:E968K;ENSP00000241274:E968K	ENSP00000241274:E968K	E	-	1	0	SLITRK3	166388411	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.455000	0.80726	2.836000	0.97738	0.655000	0.94253	GAA	.		0.388	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926	
PDCD10	11235	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	167414893	167414893	+	Missense_Mutation	SNP	G	G	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:167414893G>C	ENST00000392750.2	-	5	589	c.172C>G	c.(172-174)Ctc>Gtc	p.L58V	PDCD10_ENST00000497056.2_Missense_Mutation_p.L58V|PDCD10_ENST00000492396.1_5'UTR|PDCD10_ENST00000473645.2_Missense_Mutation_p.L58V|PDCD10_ENST00000487947.2_Missense_Mutation_p.L58V|PDCD10_ENST00000461494.1_Missense_Mutation_p.L58V|PDCD10_ENST00000471885.1_Missense_Mutation_p.L58V|PDCD10_ENST00000470131.1_Missense_Mutation_p.L58V	NM_007217.3	NP_009148.2	Q9BUL8	PDC10_HUMAN	programmed cell death 10	58					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			central_nervous_system(1)|kidney(1)|lung(8)|urinary_tract(2)	12						TCTTGTGTGAGACCTGGATTT	0.328																																					p.L58V		.											.	PDCD10-659	0			c.C172G						.						82.0	85.0	84.0					3																	167414893		2202	4300	6502	SO:0001583	missense	11235	exon4			GTGTGAGACCTGG	AF022385	CCDS3202.1	3q26.1	2014-09-17			ENSG00000114209	ENSG00000114209			8761	protein-coding gene	gene with protein product		609118	"""cerebral cavernous malformations 3"""	CCM3		15543491	Standard	NM_007217		Approved	TFAR15	uc003fez.3	Q9BUL8	OTTHUMG00000158415	ENST00000392750.2:c.172C>G	3.37:g.167414893G>C	ENSP00000376506:p.Leu58Val	39	0		15	10	NM_145860	0	0	1	16	15	A8K515|D3DNN5|O14811	Missense_Mutation	SNP	ENST00000392750.2	37	CCDS3202.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.88|19.88	3.909628|3.909628	0.72868|0.72868	.|.	.|.	ENSG00000114209|ENSG00000114209	ENST00000392750;ENST00000473645;ENST00000497056;ENST00000461494;ENST00000470131;ENST00000475915;ENST00000487947;ENST00000471885;ENST00000462725;ENST00000492139;ENST00000464360|ENST00000479121	T;T;T;T;T;T;T;T;T;T;T|.	0.50548|.	0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74|.	5.9|5.9	5.9|5.9	0.94986|0.94986	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70237|0.70237	0.3201|0.3201	L|L	0.46157|0.46157	1.445|1.445	0.80722|0.80722	D|D	1|1	P|.	0.39624|.	0.681|.	B|.	0.37198|.	0.243|.	T|T	0.63980|0.63980	-0.6514|-0.6514	10|5	0.59425|.	D|.	0.04|.	-16.7352|-16.7352	20.2768|20.2768	0.98488|0.98488	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	58|.	Q9BUL8|.	PDC10_HUMAN|.	V|C	58|38	ENSP00000376506:L58V;ENSP00000418317:L58V;ENSP00000420553:L58V;ENSP00000420021:L58V;ENSP00000417202:L58V;ENSP00000417118:L58V;ENSP00000420266:L58V;ENSP00000417876:L58V;ENSP00000420424:L58V;ENSP00000420014:L58V;ENSP00000418160:L58V|.	ENSP00000376506:L58V|.	L|S	-|-	1|2	0|0	PDCD10|PDCD10	168897587|168897587	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.922000|0.922000	0.55478|0.55478	7.518000|7.518000	0.81795|0.81795	2.808000|2.808000	0.96608|0.96608	0.650000|0.650000	0.86243|0.86243	CTC|TCT	.		0.328	PDCD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350966.2	NM_007217	
LRRC34	151827	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	169514632	169514632	+	Missense_Mutation	SNP	G	G	A	rs201395437		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:169514632G>A	ENST00000316515.7	-	7	950	c.674C>T	c.(673-675)gCa>gTa	p.A225V	LRRC34_ENST00000524327.1_5'UTR|LRRC34_ENST00000446859.1_Missense_Mutation_p.A270V|RP11-362K14.7_ENST00000602913.1_RNA|LRRC34_ENST00000522830.1_Missense_Mutation_p.A209V|RP11-362K14.6_ENST00000602835.1_RNA|LRRC34_ENST00000522526.2_Missense_Mutation_p.A238V	NM_153353.4	NP_699184.2	Q8IZ02	LRC34_HUMAN	leucine rich repeat containing 34	225										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)	10	all_cancers(22;4.12e-22)|all_epithelial(15;7.54e-27)|all_lung(20;1.63e-16)|Lung NSC(18;6.92e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			CATGTGTAGTGCAACAAGACA	0.368																																					p.A270V		.											.	LRRC34-90	0			c.C809T						.						138.0	120.0	126.0					3																	169514632		2203	4300	6503	SO:0001583	missense	151827	exon8			TGTAGTGCAACAA	AK095125	CCDS3208.1, CCDS3208.2, CCDS54672.1	3q26.2	2014-03-18			ENSG00000171757	ENSG00000171757			28408	protein-coding gene	gene with protein product						12477932	Standard	NM_153353		Approved	MGC27085	uc003ffy.3	Q8IZ02	OTTHUMG00000164419	ENST00000316515.7:c.674C>T	3.37:g.169514632G>A	ENSP00000326150:p.Ala225Val	167	0		70	52	NM_001172779	0	0	1	1	0	B4DEJ7|E9PBH2|G5E9T7	Missense_Mutation	SNP	ENST00000316515.7	37		.	.	.	.	.	.	.	.	.	.	G	8.197	0.797357	0.16327	.	.	ENSG00000171757	ENST00000446859;ENST00000316515;ENST00000522830;ENST00000522526;ENST00000528597	T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.89	5.97	0.773	0.18516	.	0.216934	0.56097	N	0.000037	T	0.22003	0.0530	N	0.10685	0.025	0.22521	N	0.999025	B;B;B;B;B	0.26318	0.001;0.094;0.0;0.001;0.146	B;B;B;B;B	0.20767	0.001;0.031;0.002;0.003;0.026	T	0.20773	-1.0265	10	0.15499	T	0.54	-7.9416	10.204	0.43101	0.1062:0.0:0.3867:0.5071	.	257;209;209;270;225	B4DHF2;B3KT77;G3V115;G5E9T7;Q8IZ02	.;.;.;.;LRC34_HUMAN	V	270;225;209;238;19	ENSP00000414635:A270V;ENSP00000326150:A225V;ENSP00000429593:A209V;ENSP00000429278:A238V;ENSP00000436883:A19V	ENSP00000326150:A225V	A	-	2	0	LRRC34	170997326	1.000000	0.71417	0.004000	0.12327	0.001000	0.01503	2.274000	0.43390	-0.128000	0.11641	-1.772000	0.00662	GCA	G|0.999;A|0.001		0.368	LRRC34-201	KNOWN	basic	protein_coding	protein_coding		NM_153353	
GHSR	2693	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	172165571	172165571	+	Silent	SNP	C	C	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:172165571C>A	ENST00000241256.2	-	1	675	c.633G>T	c.(631-633)acG>acT	p.T211T	GHSR_ENST00000427970.1_Silent_p.T211T	NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	211					actin polymerization or depolymerization (GO:0008154)|adult feeding behavior (GO:0008343)|cellular response to insulin stimulus (GO:0032869)|decidualization (GO:0046697)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone secretion (GO:0030252)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin secretion (GO:0046676)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of appetite (GO:0032100)|positive regulation of fatty acid metabolic process (GO:0045923)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of hindgut contraction (GO:0043134)|regulation of synapse assembly (GO:0051963)|response to food (GO:0032094)|response to hormone (GO:0009725)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|growth hormone secretagogue receptor activity (GO:0001616)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			ACACCATGACCGTGAGCAGTC	0.617																																					p.T211T	Esophageal Squamous(93;641 1401 20883 29581 34638)	.											.	GHSR-501	0			c.G633T						.						62.0	48.0	53.0					3																	172165571		2203	4300	6503	SO:0001819	synonymous_variant	2693	exon1			CATGACCGTGAGC	AY429112	CCDS3218.1, CCDS46959.1	3q26.31	2012-08-08			ENSG00000121853	ENSG00000121853		"""GPCR / Class A : Ghrelin receptors"""	4267	protein-coding gene	gene with protein product		601898				8688086	Standard	NM_198407		Approved		uc003fib.2	Q92847	OTTHUMG00000156946	ENST00000241256.2:c.633G>T	3.37:g.172165571C>A		210	1		121	95	NM_198407	0	0	0	0	0	Q14D12|Q6ISR8|Q92848|Q96RJ7	Silent	SNP	ENST00000241256.2	37	CCDS3218.1																																																																																			.		0.617	GHSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346728.1	NM_004122	
NAALADL2	254827	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	175165096	175165096	+	Silent	SNP	G	G	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:175165096G>T	ENST00000454872.1	+	6	1298	c.1170G>T	c.(1168-1170)ctG>ctT	p.L390L	NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	390						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		TTGCAAAACTGATCTCTTCGC	0.398																																					p.L390L		.											.	NAALADL2-47	0			c.G1170T						.						66.0	63.0	64.0					3																	175165096		1877	4123	6000	SO:0001819	synonymous_variant	254827	exon6			AAAACTGATCTCT		CCDS46960.1	3q26.3	2011-08-16			ENSG00000177694	ENSG00000177694			23219	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase II-type non-peptidase homologue"""	608806				15168106	Standard	NM_207015		Approved		uc003fir.3	Q58DX5	OTTHUMG00000157120	ENST00000454872.1:c.1170G>T	3.37:g.175165096G>T		60	0		48	39	NM_207015	0	0	0	4	4	Q658X9|Q6H9J8|Q6H9J9|Q6PG38	Silent	SNP	ENST00000454872.1	37	CCDS46960.1																																																																																			.		0.398	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347390.2	NM_207015	
ATP11B	23200	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	182538053	182538053	+	Silent	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:182538053T>C	ENST00000323116.5	+	2	293	c.33T>C	c.(31-33)ttT>ttC	p.F11F	ATP11B_ENST00000493826.1_Silent_p.F11F	NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	11					aminophospholipid transport (GO:0015917)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|ion transmembrane transporter activity (GO:0015075)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			CTTAGGGTTTTGACCCACCAC	0.383																																					p.F11F		.											.	ATP11B-93	0			c.T33C						.						106.0	96.0	100.0					3																	182538053		2203	4300	6503	SO:0001819	synonymous_variant	23200	exon2			GGGTTTTGACCCA	AF156548	CCDS33896.1	3q27	2010-04-20	2007-09-19		ENSG00000058063	ENSG00000058063		"""ATPases / P-type"""	13553	protein-coding gene	gene with protein product		605869	"""ATPase, Class VI, type 11B"""			10231032, 11015572	Standard	NM_014616		Approved	ATPIF, ATPIR, KIAA0956	uc003flb.3	Q9Y2G3	OTTHUMG00000158295	ENST00000323116.5:c.33T>C	3.37:g.182538053T>C		80	0		62	52	NM_014616	0	0	0	0	0	Q96FN1|Q9UKK7	Silent	SNP	ENST00000323116.5	37	CCDS33896.1																																																																																			.		0.383	ATP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350598.1	NM_014616	
VWA5B2	90113	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	183953046	183953046	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:183953046G>A	ENST00000426955.2	+	7	1151	c.1051G>A	c.(1051-1053)Gct>Act	p.A351T	EIF2B5_ENST00000444495.1_Intron|VWA5B2_ENST00000273794.5_Missense_Mutation_p.A132T	NM_138345.1	NP_612354.1	Q8N398	VW5B2_HUMAN	von Willebrand factor A domain containing 5B2	362										breast(3)|endometrium(4)|kidney(1)|lung(1)|prostate(1)|skin(5)	15						CCTGGGGACAGCTACTCGGGA	0.647																																					p.A351T		.											.	.	0			c.G1051A						.						41.0	46.0	44.0					3																	183953046		692	1591	2283	SO:0001583	missense	90113	exon7			GGGACAGCTACTC		CCDS54686.1	3q27.1	2008-07-25	2008-07-25		ENSG00000145198	ENSG00000145198			25144	protein-coding gene	gene with protein product						15231747	Standard	NM_138345		Approved	DKFZp761K032, LOC90113	uc011bra.2	Q8N398	OTTHUMG00000156820	ENST00000426955.2:c.1051G>A	3.37:g.183953046G>A	ENSP00000398688:p.Ala351Thr	194	0		118	80	NM_138345	0	0	0	27	27	B9EGN7	Missense_Mutation	SNP	ENST00000426955.2	37	CCDS54686.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.358592	0.82243	.	.	ENSG00000145198	ENST00000426955;ENST00000273794	T;T	0.18810	2.85;2.19	4.89	4.89	0.63831	.	0.000000	0.45361	D	0.000371	T	0.29882	0.0747	L	0.32530	0.975	0.50039	D	0.999841	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.69307	0.922;0.946;0.963	T	0.00773	-1.1572	10	0.24483	T	0.36	-4.2929	10.7379	0.46137	0.0877:0.0:0.9123:0.0	.	132;351;362	E9PF42;B9EGN7;Q8N398	.;.;VW5B2_HUMAN	T	351;132	ENSP00000398688:A351T;ENSP00000273794:A132T	ENSP00000273794:A132T	A	+	1	0	VWA5B2	185435740	0.851000	0.29673	0.995000	0.50966	0.991000	0.79684	2.985000	0.49362	2.713000	0.92767	0.655000	0.94253	GCT	.		0.647	VWA5B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346004.2	XM_291077	
ALG3	10195	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	183957477	183957477	+	IGR	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:183957477G>A	ENST00000397676.3	-	0	1528				EIF2B5_ENST00000444495.1_Intron|MIR1224_ENST00000408193.1_RNA|VWA5B2_ENST00000426955.2_Splice_Site_p.G798E|VWA5B2_ENST00000273794.5_Splice_Site_p.G580E	NM_005787.5	NP_005778.1	Q92685	ALG3_HUMAN	ALG3, alpha-1,3- mannosyltransferase						cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-1,3-mannosyltransferase activity (GO:0000033)|dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase activity (GO:0052925)			kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCCTCCCCAGGAAACCTGCTC	0.602																																					p.G798E		.											.	.	0			c.G2393A						.						125.0	117.0	119.0					3																	183957477		692	1591	2283	SO:0001628	intergenic_variant	90113	exon15			CCCCAGGAAACCT	BC002839	CCDS46967.1, CCDS46968.1	3q27.3	2013-02-26	2013-02-26		ENSG00000214160	ENSG00000214160	2.4.1.258	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	23056	protein-coding gene	gene with protein product	"""carbohydrate deficient glycoprotein syndrome type IV"", ""dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase"", ""dol-P-Man dependent alpha-1,3- mannosyltransferase"""	608750	"""asparagine-linked glycosylation 3 homolog (yeast, alpha-1,3-mannosyltransferase)"", ""asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog (S. cerevisiae)"""			1058125	Standard	NM_005787		Approved	NOT56L, Not56, CDGS4, D16Ertd36e	uc003fne.2	Q92685	OTTHUMG00000156823		3.37:g.183957477G>A		75	0		60	50	NM_138345	0	0	0	0	0	A8JZZ6|Q9BT71	Missense_Mutation	SNP	ENST00000397676.3	37	CCDS46968.1	.	.	.	.	.	.	.	.	.	.	G	12.61	1.988766	0.35131	.	.	ENSG00000145198	ENST00000426955;ENST00000273794	T;T	0.76316	-1.01;-1.01	5.04	5.04	0.67666	.	0.274240	0.27397	N	0.019554	T	0.81074	0.4747	L	0.40543	1.245	0.45076	D	0.998096	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.69824	0.966;0.966;0.966	T	0.78370	-0.2230	9	.	.	.	.	11.1341	0.48365	0.0928:0.0:0.9072:0.0	.	580;798;809	E9PF42;B9EGN7;Q8N398	.;.;VW5B2_HUMAN	E	798;580	ENSP00000398688:G798E;ENSP00000273794:G580E	.	G	+	2	0	VWA5B2	185440171	1.000000	0.71417	1.000000	0.80357	0.496000	0.33645	4.023000	0.57211	2.793000	0.96121	0.655000	0.94253	GGA	.		0.602	ALG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346033.1	NM_005787	
ALG3	10195	hgsc.bcm.edu	37	3	183959354	183959354	+	IGR	SNP	G	G	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:183959354G>T	ENST00000397676.3	-	0	1528				EIF2B5_ENST00000444495.1_Intron|MIR1224_ENST00000408193.1_RNA|ALG3_ENST00000463495.1_5'Flank|VWA5B2_ENST00000426955.2_Missense_Mutation_p.R1086L|VWA5B2_ENST00000273794.5_Missense_Mutation_p.R868L	NM_005787.5	NP_005778.1	Q92685	ALG3_HUMAN	ALG3, alpha-1,3- mannosyltransferase						cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-1,3-mannosyltransferase activity (GO:0000033)|dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase activity (GO:0052925)			kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCGCAGGAGCGCCTCTGCCGT	0.711																																					p.R1086L		.											.	.	0			c.G3257T						.						12.0	14.0	13.0					3																	183959354		691	1591	2282	SO:0001628	intergenic_variant	90113	exon19			AGGAGCGCCTCTG	BC002839	CCDS46967.1, CCDS46968.1	3q27.3	2013-02-26	2013-02-26		ENSG00000214160	ENSG00000214160	2.4.1.258	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	23056	protein-coding gene	gene with protein product	"""carbohydrate deficient glycoprotein syndrome type IV"", ""dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase"", ""dol-P-Man dependent alpha-1,3- mannosyltransferase"""	608750	"""asparagine-linked glycosylation 3 homolog (yeast, alpha-1,3-mannosyltransferase)"", ""asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog (S. cerevisiae)"""			1058125	Standard	NM_005787		Approved	NOT56L, Not56, CDGS4, D16Ertd36e	uc003fne.2	Q92685	OTTHUMG00000156823		3.37:g.183959354G>T		6	0		65	53	NM_138345	0	0	0	35	35	A8JZZ6|Q9BT71	Missense_Mutation	SNP	ENST00000397676.3	37	CCDS46968.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.209252	0.79240	.	.	ENSG00000145198	ENST00000426955;ENST00000273794	T;T	0.30981	1.51;1.51	5.06	5.06	0.68205	.	0.113352	0.39475	N	0.001350	T	0.31796	0.0808	L	0.59436	1.845	0.58432	D	0.999995	P;P;P	0.44690	0.841;0.841;0.823	B;B;B	0.36186	0.157;0.157;0.219	T	0.31752	-0.9932	10	0.72032	D	0.01	-9.0545	17.969	0.89107	0.0:0.0:1.0:0.0	.	868;1086;1097	E9PF42;B9EGN7;Q8N398	.;.;VW5B2_HUMAN	L	1086;868	ENSP00000398688:R1086L;ENSP00000273794:R868L	ENSP00000273794:R868L	R	+	2	0	VWA5B2	185442048	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	2.053000	0.41326	2.804000	0.96469	0.462000	0.41574	CGC	.		0.711	ALG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346033.1	NM_005787	
ALG3	10195	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	183962454	183962454	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:183962454G>A	ENST00000397676.3	-	5	691	c.661C>T	c.(661-663)Ctt>Ttt	p.L221F	EIF2B5_ENST00000444495.1_Intron|ALG3_ENST00000463495.1_5'Flank|ALG3_ENST00000418734.2_Missense_Mutation_p.L165F|ALG3_ENST00000445626.2_Missense_Mutation_p.L173F|ALG3_ENST00000455059.1_Missense_Mutation_p.L181F	NM_005787.5	NP_005778.1	Q92685	ALG3_HUMAN	ALG3, alpha-1,3- mannosyltransferase	221					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-1,3-mannosyltransferase activity (GO:0000033)|dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase activity (GO:0052925)			kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GTGAGGAGAAGAAACAGTAAC	0.577																																					p.L221F		.											.	.	0			c.C661T						.						51.0	55.0	54.0					3																	183962454		2045	4181	6226	SO:0001583	missense	10195	exon5			GGAGAAGAAACAG	BC002839	CCDS46967.1, CCDS46968.1	3q27.3	2013-02-26	2013-02-26		ENSG00000214160	ENSG00000214160	2.4.1.258	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	23056	protein-coding gene	gene with protein product	"""carbohydrate deficient glycoprotein syndrome type IV"", ""dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase"", ""dol-P-Man dependent alpha-1,3- mannosyltransferase"""	608750	"""asparagine-linked glycosylation 3 homolog (yeast, alpha-1,3-mannosyltransferase)"", ""asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog (S. cerevisiae)"""			1058125	Standard	NM_005787		Approved	NOT56L, Not56, CDGS4, D16Ertd36e	uc003fne.2	Q92685	OTTHUMG00000156823	ENST00000397676.3:c.661C>T	3.37:g.183962454G>A	ENSP00000380793:p.Leu221Phe	43	1		26	18	NM_005787	0	0	4	64	60	A8JZZ6|Q9BT71	Missense_Mutation	SNP	ENST00000397676.3	37	CCDS46968.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.4|21.4	4.147756|4.147756	0.78001|0.78001	.|.	.|.	ENSG00000214160|ENSG00000214160	ENST00000418734;ENST00000397676;ENST00000445626;ENST00000455059|ENST00000446569	D;D;D;D|.	0.89343|.	-2.5;-2.5;-2.5;-2.5|.	5.26|5.26	5.26|5.26	0.73747|0.73747	.|.	0.000000|.	0.64402|.	U|.	0.000001|.	T|T	0.73225|0.73225	0.3560|0.3560	M|M	0.64676|0.64676	1.99|1.99	0.80722|0.80722	D|D	1|1	D;D;P;D|.	0.89917|.	1.0;1.0;0.642;1.0|.	D;D;B;D|.	0.97110|.	0.999;1.0;0.444;1.0|.	T|T	0.71935|0.71935	-0.4442|-0.4442	10|5	0.27082|.	T|.	0.32|.	-10.9572|-10.9572	17.86|17.86	0.88778|0.88778	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	173;165;181;221|.	A8JZZ6;B4DS50;C9J7S5;Q92685|.	.;.;.;ALG3_HUMAN|.	F|F	165;221;173;181|124	ENSP00000402976:L165F;ENSP00000380793:L221F;ENSP00000402744:L173F;ENSP00000397613:L181F|.	ENSP00000380793:L221F|.	L|S	-|-	1|2	0|0	ALG3|ALG3	185445148|185445148	1.000000|1.000000	0.71417|0.71417	0.978000|0.978000	0.43139|0.43139	0.987000|0.987000	0.75469|0.75469	6.392000|6.392000	0.73213|0.73213	2.451000|2.451000	0.82905|0.82905	0.462000|0.462000	0.41574|0.41574	CTT|TCT	.		0.577	ALG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346033.1	NM_005787	
EIF4G1	1981	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	3	184049834	184049834	+	Silent	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:184049834C>T	ENST00000346169.2	+	32	4849	c.4578C>T	c.(4576-4578)taC>taT	p.Y1526Y	EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000435046.2_Silent_p.Y1330Y|EIF4G1_ENST00000427845.1_Silent_p.Y1440Y|EIF4G1_ENST00000411531.1_Silent_p.Y1487Y|EIF4G1_ENST00000342981.4_Silent_p.Y1527Y|EIF4G1_ENST00000441154.1_Silent_p.Y1363Y|EIF4G1_ENST00000392537.2_Silent_p.Y1439Y|EIF4G1_ENST00000319274.6_Silent_p.Y1526Y|EIF4G1_ENST00000414031.1_Silent_p.Y1486Y|EIF4G1_ENST00000350481.5_Silent_p.Y1362Y|EIF4G1_ENST00000434061.2_Silent_p.Y1331Y|EIF4G1_ENST00000382330.3_Silent_p.Y1533Y|EIF4G1_ENST00000352767.3_Silent_p.Y1533Y|EIF4G1_ENST00000424196.1_Silent_p.Y1533Y	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1526	EIF4A-binding.|W2. {ECO:0000255|PROSITE- ProRule:PRU00695}.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGGCGCTCTACGCCCTCCAGG	0.602																																					p.Y1533Y		.											.	EIF4G1-344	0			c.C4599T						.						57.0	54.0	55.0					3																	184049834		2203	4300	6503	SO:0001819	synonymous_variant	1981	exon33			GCTCTACGCCCTC	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.4578C>T	3.37:g.184049834C>T		185	0		114	6	NM_001194946	0	1	267	287	19	D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Silent	SNP	ENST00000346169.2	37	CCDS3259.1																																																																																			.		0.602	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917	
POLR2H	5437	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	184083008	184083008	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:184083008C>T	ENST00000456318.1	+	4	1294	c.245C>T	c.(244-246)cCt>cTt	p.P82L	POLR2H_ENST00000438240.1_Missense_Mutation_p.P46L|EIF2B5_ENST00000444495.1_Intron|POLR2H_ENST00000443489.1_Missense_Mutation_p.P46L|POLR2H_ENST00000430783.1_Missense_Mutation_p.P82L|POLR2H_ENST00000429568.1_Missense_Mutation_p.P82L|POLR2H_ENST00000452961.1_Missense_Mutation_p.P46L|POLR2H_ENST00000296223.3_Missense_Mutation_p.P82L	NM_001278699.1	NP_001265628.1	P52434	RPAB3_HUMAN	polymerase (RNA) II (DNA directed) polypeptide H	82					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|termination of RNA polymerase I transcription (GO:0006363)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase II, core complex (GO:0005665)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GATGATAGGCCTTCCAGGTGA	0.403																																					p.P82L		.											.	POLR2H-90	0			c.C245T						.						159.0	147.0	151.0					3																	184083008		2203	4300	6503	SO:0001583	missense	5437	exon3			ATAGGCCTTCCAG		CCDS3264.1, CCDS63861.1, CCDS63862.1, CCDS63859.1, CCDS63860.1	3q28	2013-01-21			ENSG00000163882	ENSG00000163882		"""RNA polymerase subunits"""	9195	protein-coding gene	gene with protein product		606023					Standard	NM_001278698		Approved	RPB8	uc003fok.2	P52434	OTTHUMG00000156746	ENST00000456318.1:c.245C>T	3.37:g.184083008C>T	ENSP00000392913:p.Pro82Leu	206	0		101	76	NM_006232	0	0	0	1	1	C9J413|C9JBJ6|C9JCU7|C9JUA8|P53802|Q969R0	Missense_Mutation	SNP	ENST00000456318.1	37	CCDS3264.1	.	.	.	.	.	.	.	.	.	.	C	19.72	3.880133	0.72294	.	.	ENSG00000163882	ENST00000456318;ENST00000438240;ENST00000455712;ENST00000430783;ENST00000443489;ENST00000452961;ENST00000296223;ENST00000429568	.	.	.	5.81	5.81	0.92471	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.000000	0.85682	D	0.000000	T	0.64549	0.2608	M	0.61703	1.905	0.80722	D	1	P	0.37061	0.58	B	0.39738	0.308	T	0.63765	-0.6563	9	0.40728	T	0.16	-14.7711	17.5771	0.87953	0.0:1.0:0.0:0.0	.	82	P52434	RPAB3_HUMAN	L	82;46;82;82;46;46;82;82	.	ENSP00000296223:P82L	P	+	2	0	POLR2H	185565702	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.468000	0.80943	2.756000	0.94617	0.655000	0.94253	CCT	.		0.403	POLR2H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345558.1	NM_006232	
FGF12	2257	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	192053209	192053209	+	Nonsense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:192053209G>A	ENST00000454309.2	-	3	1180	c.355C>T	c.(355-357)Caa>Taa	p.Q119*	FGF12_ENST00000445105.2_Nonsense_Mutation_p.Q57*|FGF12_ENST00000264730.3_Nonsense_Mutation_p.Q57*|FGF12_ENST00000430714.1_Nonsense_Mutation_p.Q20*|FGF12_ENST00000450716.1_Nonsense_Mutation_p.Q57*	NM_021032.4	NP_066360.1	P61328	FGF12_HUMAN	fibroblast growth factor 12	119					adult locomotory behavior (GO:0008344)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell-cell signaling (GO:0007267)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|JNK cascade (GO:0007254)|negative regulation of cation channel activity (GO:2001258)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|positive regulation of sodium ion transport (GO:0010765)|regulation of membrane depolarization (GO:0003254)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular space (GO:0005615)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)|ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080)			endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		TTCACTCCTTGGATGGCCACT	0.458																																					p.Q119X		.											.	FGF12-949	0			c.C355T						.						97.0	83.0	88.0					3																	192053209		2203	4300	6503	SO:0001587	stop_gained	2257	exon3			CTCCTTGGATGGC	U66197	CCDS3301.1, CCDS46983.1	3q28	2008-07-18			ENSG00000114279	ENSG00000114279			3668	protein-coding gene	gene with protein product	"""fibroblast growth factor 12B"", ""fibroblast growth factor homologous factor 1"", ""myocyte-activating factor"", ""fibroblast growth factor FGF-12b"""	601513		FGF12B		8790420, 9345906	Standard	NM_021032		Approved	FHF1	uc003fsx.3	P61328	OTTHUMG00000156132	ENST00000454309.2:c.355C>T	3.37:g.192053209G>A	ENSP00000413496:p.Gln119*	200	0		167	136	NM_021032	0	0	0	0	0	B2R6B7|B2R976|O35339|P70376|Q8TBG5|Q92912|Q93001	Nonsense_Mutation	SNP	ENST00000454309.2	37	CCDS3301.1	.	.	.	.	.	.	.	.	.	.	G	40	8.205644	0.98704	.	.	ENSG00000114279	ENST00000264730;ENST00000392454;ENST00000445105;ENST00000454309;ENST00000450716;ENST00000430714;ENST00000448795;ENST00000418610	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	16.9208	0.86164	0.0:0.0:1.0:0.0	.	.	.	.	X	57;57;57;119;57;20;33;57	.	ENSP00000264730:Q57X	Q	-	1	0	FGF12	193535903	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.011000	0.93618	2.573000	0.86826	0.655000	0.94253	CAA	.		0.458	FGF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343160.1	NM_021032	
ATP13A3	79572	bcgsc.ca	37	3	194162115	194162115	+	Nonsense_Mutation	SNP	A	A	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:194162115A>T	ENST00000439040.1	-	16	2426	c.1635T>A	c.(1633-1635)tgT>tgA	p.C545*	ATP13A3_ENST00000256031.4_Nonsense_Mutation_p.C545*			Q9H7F0	AT133_HUMAN	ATPase type 13A3	545						integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		TAAGTGAATGACAAGTAGCCA	0.358																																					p.C545X		.											.	ATP13A3-69	0			c.T1635A						.						107.0	101.0	103.0					3																	194162115		1834	4096	5930	SO:0001587	stop_gained	79572	exon15			TGAATGACAAGTA	AJ306929	CCDS43187.1	3q29	2010-04-20			ENSG00000133657	ENSG00000133657		"""ATPases / P-type"""	24113	protein-coding gene	gene with protein product	"""ATPase family homolog up regulated in senescence cells"""	610232				11867234	Standard	NM_024524		Approved	AFURS1	uc003fty.4	Q9H7F0	OTTHUMG00000156034	ENST00000439040.1:c.1635T>A	3.37:g.194162115A>T	ENSP00000416508:p.Cys545*	234	5		108	74	NM_024524	0	0	0	1	1	Q8NC11|Q96KS1	Nonsense_Mutation	SNP	ENST00000439040.1	37	CCDS43187.1	.	.	.	.	.	.	.	.	.	.	A	41	9.137340	0.99078	.	.	ENSG00000133657	ENST00000439040;ENST00000256031;ENST00000310773	.	.	.	5.23	-0.307	0.12777	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.0897	10.6139	0.45439	0.5449:0.0:0.4551:0.0	.	.	.	.	X	545;545;283	.	ENSP00000256031:C545X	C	-	3	2	ATP13A3	195643404	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	2.253000	0.43205	0.032000	0.15435	-0.353000	0.07706	TGT	.		0.358	ATP13A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342799.2	NM_024524	
MUC4	4585	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	3	195511828	195511828	+	Frame_Shift_Del	DEL	G	G	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:195511828delG	ENST00000463781.3	-	2	7082	c.6623delC	c.(6622-6624)cctfs	p.P2208fs	MUC4_ENST00000475231.1_Frame_Shift_Del_p.P2208fs|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	997					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)		GACAGGAAGAGGGGTGGCCTG	0.592																																					p.P2208fs		.											.	MUC4-90	0			c.6623delC						.						32.0	26.0	28.0					3																	195511828		689	1590	2279	SO:0001589	frameshift_variant	4585	exon2			GGAAGAGGGGTGG	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.6623delC	3.37:g.195511828delG	ENSP00000417498:p.Pro2208fs	521	0		415	76	NM_018406	0	0	0	0	0	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Frame_Shift_Del	DEL	ENST00000463781.3	37	CCDS54700.1																																																																																			.		0.592	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
PIGG	54872	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	527709	527709	+	Missense_Mutation	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:527709T>C	ENST00000453061.2	+	12	2780	c.2674T>C	c.(2674-2676)Tac>Cac	p.Y892H	PIGG_ENST00000310340.5_Missense_Mutation_p.Y884H|PIGG_ENST00000383028.4_Missense_Mutation_p.Y759H|PIGG_ENST00000504346.1_Missense_Mutation_p.Y803H|PIGG_ENST00000296306.7_3'UTR	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	892					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	CP2 mannose-ethanolamine phosphotransferase activity (GO:0051267)|phosphotransferase activity, for other substituted phosphate groups (GO:0016780)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						GTTTGGGACGTACGCAGGGCC	0.607																																					p.Y892H		.											.	PIGG-92	0			c.T2674C						.						90.0	78.0	82.0					4																	527709		2203	4300	6503	SO:0001583	missense	54872	exon12			GGGACGTACGCAG		CCDS3336.1, CCDS46992.1, CCDS75080.1, CCDS75081.1, CCDS75082.1, CCDS75083.1	4p16.3	2013-02-26	2006-06-28		ENSG00000174227	ENSG00000174227		"""Phosphatidylinositol glycan anchor biosynthesis"""	25985	protein-coding gene	gene with protein product			"""phosphatidylinositol glycan, class G"""			15632136	Standard	XM_005272287		Approved	FLJ20265, GPI7, LAS21	uc003gak.4	Q5H8A4	OTTHUMG00000112457	ENST00000453061.2:c.2674T>C	4.37:g.527709T>C	ENSP00000415203:p.Tyr892His	206	0		301	112	NM_001127178	0	0	23	50	27	B4DKC7|Q2TAK5|Q6UX31|Q7L5Y4|Q8N866|Q8NCC9|Q96SY9|Q9BVT7|Q9NXG5	Missense_Mutation	SNP	ENST00000453061.2	37	CCDS46992.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.552486	0.86127	.	.	ENSG00000174227	ENST00000310340;ENST00000453061;ENST00000504346;ENST00000383028;ENST00000453065	T;T;T;T	0.30714	1.52;1.52;1.52;1.52	5.78	5.78	0.91487	.	0.119076	0.64402	D	0.000016	T	0.58623	0.2135	M	0.82630	2.6	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.74674	0.945;0.963;0.984	T	0.64516	-0.6389	10	0.87932	D	0	-10.8366	14.3442	0.66649	0.0:0.0:0.0:1.0	.	759;892;884	Q5H8A4-3;Q5H8A4;Q5H8A4-2	.;PIGG_HUMAN;.	H	884;892;803;759;48	ENSP00000311750:Y884H;ENSP00000415203:Y892H;ENSP00000424800:Y803H;ENSP00000372494:Y759H	ENSP00000311750:Y884H	Y	+	1	0	PIGG	517709	1.000000	0.71417	0.012000	0.15200	0.844000	0.47949	7.431000	0.80335	2.333000	0.79357	0.533000	0.62120	TAC	.		0.607	PIGG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357494.1	NM_017733	
IDUA	3425	broad.mit.edu;bcgsc.ca;mdanderson.org	37	4	996231	996231	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:996231C>T	ENST00000247933.4	+	8	1235	c.1147C>T	c.(1147-1149)Cgc>Tgc	p.R383C	IDUA_ENST00000453894.1_Missense_Mutation_p.R405C|IDUA_ENST00000514224.1_Missense_Mutation_p.R251C	NM_000203.3	NP_000194.2	P35475	IDUA_HUMAN	iduronidase, alpha-L-	383			R -> H (in MPS1S; 2-3% of normal activity). {ECO:0000269|PubMed:12559846, ECO:0000269|PubMed:7550242}.		carbohydrate metabolic process (GO:0005975)|cell morphogenesis (GO:0000902)|chemical homeostasis (GO:0048878)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate catabolic process (GO:0030209)|disaccharide metabolic process (GO:0005984)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|limb morphogenesis (GO:0035108)|lysosome organization (GO:0007040)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)	coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	L-iduronidase activity (GO:0003940)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GCAGCTGTTGCGCAAGCCGGT	0.736																																					p.R383C		.											.	IDUA-91	0			c.C1147T						.						7.0	9.0	8.0					4																	996231		2038	4116	6154	SO:0001583	missense	3425	exon8			CTGTTGCGCAAGC	M74715	CCDS3343.1	4p16.3	2012-10-02			ENSG00000127415	ENSG00000127415	3.2.1.76		5391	protein-coding gene	gene with protein product		252800				1832239	Standard	NM_000203		Approved	MPS1	uc003gby.3	P35475	OTTHUMG00000088901	ENST00000247933.4:c.1147C>T	4.37:g.996231C>T	ENSP00000247933:p.Arg383Cys	36	1		183	87	NM_000203	0	0	4	8	4	B3KWK6	Missense_Mutation	SNP	ENST00000247933.4	37	CCDS3343.1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.199476	0.58126	.	.	ENSG00000127415	ENST00000247933;ENST00000453894;ENST00000514224	D;D;D	0.95205	-3.64;-3.62;-3.64	5.31	4.41	0.53225	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.052977	0.64402	D	0.000001	D	0.96651	0.8907	M	0.81942	2.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.96248	0.9181	10	0.62326	D	0.03	-9.0273	10.4309	0.44407	0.3124:0.6876:0.0:0.0	.	405;383	B3KWK6;P35475	.;IDUA_HUMAN	C	383;405;251	ENSP00000247933:R383C;ENSP00000396458:R405C;ENSP00000425081:R251C	ENSP00000247933:R383C	R	+	1	0	IDUA	986231	1.000000	0.71417	1.000000	0.80357	0.137000	0.21094	1.301000	0.33447	2.503000	0.84419	0.555000	0.69702	CGC	.		0.736	IDUA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000201812.1	NM_000203	
SPON2	10417	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	1164348	1164348	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:1164348G>A	ENST00000290902.5	-	5	985	c.653C>T	c.(652-654)cCc>cTc	p.P218L	RP11-20I20.4_ENST00000609548.1_RNA|SPON2_ENST00000431380.1_Missense_Mutation_p.P218L	NM_012445.3	NP_036577	Q9BUD6	SPON2_HUMAN	spondin 2, extracellular matrix protein	218	Spondin. {ECO:0000255|PROSITE- ProRule:PRU00364}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)		CGGGTGGCTGGGAGAGGAGGA	0.657																																					p.P218L		.											.	SPON2-90	0			c.C653T						.						96.0	97.0	97.0					4																	1164348		2202	4299	6501	SO:0001583	missense	10417	exon5			TGGCTGGGAGAGG	AB027466	CCDS3347.1	4p16.3	2008-07-29			ENSG00000159674	ENSG00000159674			11253	protein-coding gene	gene with protein product	"""Mindin"", ""M-spondin"""	605918				10512675, 15094111	Standard	NM_012445		Approved	DIL1	uc003gco.4	Q9BUD6	OTTHUMG00000089002	ENST00000290902.5:c.653C>T	4.37:g.1164348G>A	ENSP00000290902:p.Pro218Leu	88	0		119	47	NM_012445	0	0	13	13	0	D3DVN9|Q4W5N4|Q9ULW1	Missense_Mutation	SNP	ENST00000290902.5	37	CCDS3347.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.677670	0.88445	.	.	ENSG00000159674	ENST00000290902;ENST00000431380	T;T	0.56941	0.43;0.43	5.16	5.16	0.70880	Spondin, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.76572	0.4006	M	0.85373	2.75	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.81090	-0.1090	10	0.87932	D	0	.	18.2197	0.89897	0.0:0.0:1.0:0.0	.	218;218	D3DVN9;Q9BUD6	.;SPON2_HUMAN	L	218	ENSP00000290902:P218L;ENSP00000394832:P218L	ENSP00000290902:P218L	P	-	2	0	SPON2	1154348	1.000000	0.71417	0.999000	0.59377	0.510000	0.34073	9.288000	0.96055	2.403000	0.81681	0.609000	0.83330	CCC	.		0.657	SPON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000202080.2		
CRIPAK	285464	bcgsc.ca	37	4	1388817	1388817	+	Missense_Mutation	SNP	C	C	G	rs200606324	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:1388817C>G	ENST00000324803.4	+	1	3478	c.518C>G	c.(517-519)cCa>cGa	p.P173R		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	173					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CACACGTGCCCATGTGGAGTG	0.677													N|||	940	0.1877	0.3328	0.1398	5008	,	,		18475	0.0992		0.0378	False		,,,				2504	0.271				p.P173R		.											.	CRIPAK-90	0			c.C518G						.						192.0	130.0	151.0					4																	1388817		2194	4201	6395	SO:0001583	missense	285464	exon1			CGTGCCCATGTGG	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.518C>G	4.37:g.1388817C>G	ENSP00000323978:p.Pro173Arg	25	0		166	42	NM_175918	0	0	64	64	0	Q8NB03	Missense_Mutation	SNP	ENST00000324803.4	37	CCDS3349.1	.	.	.	.	.	.	.	.	.	.	c	1.909	-0.451230	0.04572	.	.	ENSG00000179979	ENST00000324803	T	0.19250	2.16	1.25	0.276	0.15663	Post-SET domain (1);	.	.	.	.	T	0.08358	0.0208	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40079	-0.9582	9	0.17369	T	0.5	.	4.4738	0.11726	0.0:0.5796:0.2425:0.1779	.	173	Q8N1N5	CRPAK_HUMAN	R	173	ENSP00000323978:P173R	ENSP00000323978:P173R	P	+	2	0	CRIPAK	1378817	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.368000	0.07543	-0.338000	0.08413	-1.976000	0.00459	CCA	CATGT|0.500;GACGC|0.500		0.677	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918	
CRIPAK	285464	bcgsc.ca	37	4	1388819	1388819	+	Missense_Mutation	SNP	T	T	C	rs144797159	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:1388819T>C	ENST00000324803.4	+	1	3480	c.520T>C	c.(520-522)Tgt>Cgt	p.C174R		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	174					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CACGTGCCCATGTGGAGTGCC	0.677													N|||	940	0.1877	0.3328	0.1398	5008	,	,		17297	0.0992		0.0378	False		,,,				2504	0.271				p.C174R		.											.	CRIPAK-90	0			c.T520C						.						191.0	130.0	151.0					4																	1388819		2194	4196	6390	SO:0001583	missense	285464	exon1			TGCCCATGTGGAG	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.520T>C	4.37:g.1388819T>C	ENSP00000323978:p.Cys174Arg	25	0		166	45	NM_175918	0	0	59	59	0	Q8NB03	Missense_Mutation	SNP	ENST00000324803.4	37	CCDS3349.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	2.950|2.950	-0.216975|-0.216975	0.06101|0.06101	.|.	.|.	ENSG00000179979|ENSG00000179979	ENST00000324803|ENST00000382944	T|.	0.29142|.	1.58|.	1.25|1.25	-0.146|-0.146	0.13432|0.13432	Post-SET domain (1);|.	.|.	.|.	.|.	.|.	T|T	0.15825|0.15825	0.0381|0.0381	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B|.	0.20052|.	0.041|.	B|.	0.11329|.	0.006|.	T|T	0.24977|0.24977	-1.0145|-1.0145	9|6	0.66056|0.27082	D|T	0.02|0.32	.|.	4.6847|4.6847	0.12752|0.12752	0.0:0.2124:0.0:0.7876|0.0:0.2124:0.0:0.7876	.|.	174|.	Q8N1N5|.	CRPAK_HUMAN|.	R|T	174|157	ENSP00000323978:C174R|.	ENSP00000323978:C174R|ENSP00000372402:M157T	C|M	+|+	1|2	0|0	CRIPAK|CRIPAK	1378819|1378819	0.000000|0.000000	0.05858|0.05858	0.003000|0.003000	0.11579|0.11579	0.014000|0.014000	0.08584|0.08584	-0.160000|-0.160000	0.10041|0.10041	-0.013000|-0.013000	0.14199|0.14199	0.102000|0.102000	0.15555|0.15555	TGT|ATG	T|0.950;C|0.050		0.677	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918	
CRIPAK	285464	hgsc.bcm.edu	37	4	1388974	1388974	+	Silent	SNP	T	T	C	rs71614969	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:1388974T>C	ENST00000324803.4	+	1	3635	c.675T>C	c.(673-675)gaT>gaC	p.D225D		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	225					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CACGTGCCGATGCGGAGTGCC	0.667													N|||	706	0.140974	0.087	0.1888	5008	,	,		14021	0.0268		0.2326	False		,,,				2504	0.2035				p.D225D		.											.	CRIPAK-90	0			c.T675C						.						177.0	128.0	145.0					4																	1388974		2168	4272	6440	SO:0001819	synonymous_variant	285464	exon1			TGCCGATGCGGAG	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.675T>C	4.37:g.1388974T>C		3	0		37	15	NM_175918	0	0	2	13	11	Q8NB03	Silent	SNP	ENST00000324803.4	37	CCDS3349.1																																																																																			C|1.000;|0.000		0.667	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918	
NELFA	7469	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	1989663	1989663	+	Missense_Mutation	SNP	G	G	A	rs145121989		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:1989663G>A	ENST00000411638.2	-	4	631	c.616C>T	c.(616-618)Cgg>Tgg	p.R206W	NELFA_ENST00000542778.1_Missense_Mutation_p.R71W|NELFA_ENST00000382882.3_Missense_Mutation_p.R217W|MIR943_ENST00000401286.1_RNA	NM_005663.4	NP_005654.3	Q9H3P2	NELFA_HUMAN	negative elongation factor complex member A	206	HDAg-like.				gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.R206W(1)									TCCATCTTCCGCAGCAGCCCC	0.657																																					p.R217W		.											.	.	1	Substitution - Missense(1)	endometrium(1)	c.C649T						.	G	TRP/ARG	0,4402		0,0,2201	32.0	34.0	34.0		649	2.2	0.9	4	dbSNP_134	34	1,8599	1.2+/-3.3	0,1,4299	no	missense	WHSC2	NM_005663.4	101	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	217/540	1989663	1,13001	2201	4300	6501	SO:0001583	missense	7469	exon4			TCTTCCGCAGCAG	AF101434	CCDS3358.2	4p16.3	2013-01-31	2013-01-31	2013-01-31	ENSG00000185049	ENSG00000185049			12768	protein-coding gene	gene with protein product		606026	"""Wolf-Hirschhorn syndrome candidate 2"""	WHSC2		10409432	Standard	NM_005663		Approved	NELF-A	uc003gem.3	Q9H3P2	OTTHUMG00000089967	ENST00000411638.2:c.616C>T	4.37:g.1989663G>A	ENSP00000399165:p.Arg206Trp	43	0		41	24	NM_005663	0	1	12	38	25	A2A2T1|O95392	Missense_Mutation	SNP	ENST00000411638.2	37		.	.	.	.	.	.	.	.	.	.	G	25.3	4.619288	0.87460	0.0	1.16E-4	ENSG00000185049	ENST00000382882;ENST00000416258;ENST00000542778;ENST00000411638;ENST00000431323;ENST00000455762	T;T;T;T	0.61274	0.24;0.12;0.3;0.25	5.27	2.23	0.28157	.	0.051646	0.85682	D	0.000000	T	0.62612	0.2442	L	0.58810	1.83	0.45035	D	0.99805	D	0.60160	0.987	P	0.56751	0.805	T	0.62886	-0.6759	10	0.87932	D	0	-27.8151	7.803	0.29185	0.0:0.1208:0.3556:0.5235	.	206	Q9H3P2	NELFA_HUMAN	W	217;210;71;206;222;136	ENSP00000372335:R217W;ENSP00000387647:R210W;ENSP00000445757:R71W;ENSP00000399165:R206W	ENSP00000372335:R217W	R	-	1	2	WHSC2	1959461	1.000000	0.71417	0.909000	0.35828	0.980000	0.70556	3.888000	0.56204	0.602000	0.29896	0.563000	0.77884	CGG	G|1.000;A|0.000		0.657	NELFA-015	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000473007.1	NM_005663	
TNIP2	79155	hgsc.bcm.edu	37	4	2757800	2757800	+	Missense_Mutation	SNP	G	G	C	rs74548850	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:2757800G>C	ENST00000315423.7	-	1	303	c.217C>G	c.(217-219)Cgc>Ggc	p.R73G	TNIP2_ENST00000503235.1_Missense_Mutation_p.R73G|TNIP2_ENST00000510267.1_5'UTR	NM_024309.3	NP_077285.3			TNFAIP3 interacting protein 2											breast(2)|central_nervous_system(1)|large_intestine(4)|lung(6)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TCCCGGAAGCGCGCAACCTGC	0.756													G|||	210	0.0419329	0.025	0.0447	5008	,	,		6355	0.0288		0.0408	False		,,,				2504	0.0777				p.R73G		.											.	TNIP2-90	0			c.C217G						.	G	GLY/ARG	60,3592		0,60,1766	5.0	7.0	6.0		217	2.8	1.0	4	dbSNP_131	6	267,7455		4,259,3598	no	missense	TNIP2	NM_024309.3	125	4,319,5364	CC,CG,GG		3.4577,1.6429,2.875	probably-damaging	73/430	2757800	327,11047	1826	3861	5687	SO:0001583	missense	79155	exon1			GGAAGCGCGCAAC	BC002740	CCDS3362.1, CCDS54714.1, CCDS75093.1	4p16.3	2008-08-01			ENSG00000168884	ENSG00000168884			19118	protein-coding gene	gene with protein product		610669				11390377, 12933576	Standard	NM_024309		Approved	ABIN-2, MGC4289, KLIP, FLIP1	uc003gfg.2	Q8NFZ5	OTTHUMG00000090267	ENST00000315423.7:c.217C>G	4.37:g.2757800G>C	ENSP00000321203:p.Arg73Gly	0	0		25	16	NM_024309	0	0	8	10	2		Missense_Mutation	SNP	ENST00000315423.7	37	CCDS3362.1	94	0.04304029304029304	17	0.034552845528455285	18	0.049723756906077346	18	0.03146853146853147	41	0.05408970976253298	G	19.51	3.841781	0.71488	0.016429	0.034577	ENSG00000168884	ENST00000315423;ENST00000503235	T;T	0.48522	0.82;0.81	3.62	2.75	0.32379	.	0.480578	0.20050	N	0.100314	T	0.14399	0.0348	M	0.65975	2.015	0.27856	N	0.940558	D;P	0.62365	0.991;0.481	P;B	0.52217	0.693;0.071	T	0.11299	-1.0593	10	0.23302	T	0.38	-8.2753	9.2129	0.37328	0.0:0.0:0.7823:0.2177	.	73;73	D6RGJ2;Q8NFZ5	.;TNIP2_HUMAN	G	73	ENSP00000321203:R73G;ENSP00000426314:R73G	ENSP00000321203:R73G	R	-	1	0	TNIP2	2727598	0.882000	0.30256	1.000000	0.80357	0.927000	0.56198	1.083000	0.30815	0.689000	0.31550	0.498000	0.49722	CGC	G|0.957;C|0.043		0.756	TNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206589.5	NM_024309	
NOP14	8602	broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	2948138	2948138	+	Splice_Site	SNP	C	C	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:2948138C>A	ENST00000314262.6	-	11	1684		c.e11+1		NOP14-AS1_ENST00000515194.1_RNA|NOP14_ENST00000502735.1_Splice_Site|NOP14-AS1_ENST00000505731.1_RNA|NOP14-AS1_ENST00000507702.1_RNA|NOP14-AS1_ENST00000503709.1_RNA|NOP14_ENST00000416614.2_Splice_Site|NOP14_ENST00000398071.4_Splice_Site	NM_003703.1	NP_003694.1	P78316	NOP14_HUMAN	NOP14 nucleolar protein						endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|membrane (GO:0016020)|mitochondrion (GO:0005739)|Noc4p-Nop14p complex (GO:0030692)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)			NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						ACTCTGCTTACCACATCCAAC	0.527																																					.		.											.	NOP14-91	0			c.1635+1G>T						.						107.0	104.0	105.0					4																	2948138		2203	4300	6503	SO:0001630	splice_region_variant	8602	exon12			TGCTTACCACATC	AB000467	CCDS33945.1	4p16.3	2012-12-10	2012-12-10	2008-10-13	ENSG00000087269	ENSG00000087269			16821	protein-coding gene	gene with protein product	"""NOP14 homolog (S. cerevisiae)"""	611526	"""chromosome 4 open reading frame 9"", ""nucleolar protein 14"", ""nucleolar protein 14 homolog (yeast)"", ""NOP14 nucleolar protein homolog (yeast)"""	C4orf9, NOL14		9734812, 11694595	Standard	XR_241655		Approved	RES4-25, UTP2	uc003ggj.1	P78316	OTTHUMG00000159911	ENST00000314262.6:c.1635+1G>T	4.37:g.2948138C>A		64	1		99	57	NM_003703	0	0	0	7	7	D3DVR6|Q7LGI5|Q7Z6K0|Q8TBR6	Splice_Site	SNP	ENST00000314262.6	37	CCDS33945.1	.	.	.	.	.	.	.	.	.	.	C	12.83	2.055280	0.36277	.	.	ENSG00000087269	ENST00000416614;ENST00000314262;ENST00000502735;ENST00000398071;ENST00000546137	.	.	.	4.75	4.75	0.60458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3348	0.87277	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NOP14	2917936	1.000000	0.71417	0.989000	0.46669	0.044000	0.14063	7.119000	0.77145	2.204000	0.70986	0.491000	0.48974	.	.		0.527	NOP14-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358135.2	NM_003703	Intron
GRK4	2868	hgsc.bcm.edu;broad.mit.edu	37	4	3015470	3015470	+	Frame_Shift_Del	DEL	A	A	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:3015470delA	ENST00000398052.4	+	8	999	c.656delA	c.(655-657)caafs	p.Q219fs	GRK4_ENST00000504933.1_Frame_Shift_Del_p.Q219fs|GRK4_ENST00000398051.4_Frame_Shift_Del_p.Q187fs|GRK4_ENST00000345167.6_Frame_Shift_Del_p.Q187fs	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN	G protein-coupled receptor kinase 4	219	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				G-protein coupled receptor internalization (GO:0002031)|receptor internalization (GO:0031623)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AAAAAGCTACAAAAAAAAAGA	0.393																																					p.Q219fs		.											.	GRK4-507	0			c.656delA						.		,,	13,12,4241		0,0,13,6,0,2114					,,	2.9	0.8			136	3,39,8212		0,0,3,19,1,4104	no	codingComplex,codingComplex,codingComplex	GRK4	NM_182982.2,NM_001004057.1,NM_001004056.1	,,	0,0,16,25,1,6218	A1A1,A1A2,A1R,A2A2,A2R,RR		0.5088,0.586,0.5351	,,	,,		16,51,12453				SO:0001589	frameshift_variant	2868	exon8			AGCTACAAAAAAA		CCDS33946.1, CCDS33947.1, CCDS47002.1, CCDS68656.1	4p16.3	2008-02-05	2004-02-04	2004-02-06	ENSG00000125388	ENSG00000125388			4543	protein-coding gene	gene with protein product		137026	"""G protein-coupled receptor kinase 2-like (Drosophila)"""	GPRK2L		1338872	Standard	NM_182982		Approved	GPRK4	uc003ggn.1	P32298	OTTHUMG00000159914	ENST00000398052.4:c.656delA	4.37:g.3015470delA	ENSP00000381129:p.Gln219fs	39	0		61	23	NM_182982	0	0	0	0	0	O00641|O00642|Q13293|Q13294|Q13295|Q14453|Q14725|Q15313|Q15314|Q15315|Q15316|Q17RH6|Q53EQ8	Frame_Shift_Del	DEL	ENST00000398052.4	37	CCDS33946.1																																																																																			.		0.393	GRK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358176.2	NM_005307	
HTT	3064	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	3137678	3137678	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:3137678C>T	ENST00000355072.5	+	20	2826	c.2681C>T	c.(2680-2682)gCt>gTt	p.A894V		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	894					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CACAGAGGGGCTCATCATTAT	0.383																																					p.A894V		.											.	HTT-281	0			c.C2681T						.						154.0	140.0	145.0					4																	3137678		1848	4100	5948	SO:0001583	missense	3064	exon20			GAGGGGCTCATCA	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.2681C>T	4.37:g.3137678C>T	ENSP00000347184:p.Ala894Val	142	0		152	45	NM_002111	0	0	5	9	4	Q9UQB7	Missense_Mutation	SNP	ENST00000355072.5	37	CCDS43206.1	.	.	.	.	.	.	.	.	.	.	C	10.44	1.351262	0.24512	.	.	ENSG00000197386	ENST00000355072	T	0.05199	3.48	5.68	4.83	0.62350	Armadillo-like helical (1);Armadillo-type fold (1);	0.873077	0.10243	N	0.698106	T	0.02727	0.0082	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.43114	-0.9411	10	0.29301	T	0.29	.	6.5516	0.22438	0.1554:0.6988:0.0:0.1458	.	894	P42858	HD_HUMAN	V	894	ENSP00000347184:A894V	ENSP00000347184:A894V	A	+	2	0	HTT	3107476	0.098000	0.21812	0.619000	0.29118	0.924000	0.55760	1.770000	0.38532	1.378000	0.46305	-0.182000	0.12963	GCT	.		0.383	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111	
HTT	3064	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	3240681	3240681	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:3240681C>T	ENST00000355072.5	+	66	9336	c.9191C>T	c.(9190-9192)tCc>tTc	p.S3064F		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	3064					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GTCAGCGCGTCCACCAGCCCG	0.612																																					p.S3064F		.											.	HTT-281	0			c.C9191T						.						21.0	24.0	23.0					4																	3240681		2123	4214	6337	SO:0001583	missense	3064	exon66			GCGCGTCCACCAG	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.9191C>T	4.37:g.3240681C>T	ENSP00000347184:p.Ser3064Phe	82	0		129	60	NM_002111	0	0	38	72	34	Q9UQB7	Missense_Mutation	SNP	ENST00000355072.5	37	CCDS43206.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.008778	0.75046	.	.	ENSG00000197386	ENST00000355072	T	0.22336	1.96	4.83	3.98	0.46160	.	0.120327	0.64402	D	0.000016	T	0.44912	0.1316	M	0.75615	2.305	0.80722	D	1	D	0.71674	0.998	D	0.79784	0.993	T	0.46386	-0.9195	10	0.87932	D	0	.	12.2946	0.54838	0.0:0.9169:0.0:0.0831	.	3064	P42858	HD_HUMAN	F	3064	ENSP00000347184:S3064F	ENSP00000347184:S3064F	S	+	2	0	HTT	3210479	1.000000	0.71417	0.926000	0.36857	0.424000	0.31475	7.776000	0.85560	1.149000	0.42402	0.557000	0.71058	TCC	.		0.612	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111	
RGS12	6002	broad.mit.edu	37	4	3430399	3430399	+	Frame_Shift_Del	DEL	A	A	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:3430399delA	ENST00000344733.5	+	16	4430	c.3526delA	c.(3526-3528)aaafs	p.K1178fs	RGS12_ENST00000382788.3_Frame_Shift_Del_p.K1178fs|RGS12_ENST00000306648.7_Intron|RGS12_ENST00000336727.3_Frame_Shift_Del_p.K1178fs|RGS12_ENST00000338806.4_Frame_Shift_Del_p.K530fs|RGS12_ENST00000538395.1_Intron	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	1178					positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AAAGATTGGGAAAAAAAAATA	0.328																																					p.K1176fs		.											.	RGS12-226	0			c.3526delA						.						44.0	50.0	48.0					4																	3430399		2201	4300	6501	SO:0001589	frameshift_variant	6002	exon16			ATTGGGAAAAAAA	AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"""Regulators of G-protein signaling"""	9994	protein-coding gene	gene with protein product		602512	"""regulator of G-protein signalling 12"""			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.3526delA	4.37:g.3430399delA	ENSP00000339381:p.Lys1178fs	100	0		147	13	NM_002926	0	0	0	0	0	B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Frame_Shift_Del	DEL	ENST00000344733.5	37	CCDS3366.1																																																																																			.		0.328	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	NM_002926	
RGS12	6002	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	4	3432431	3432431	+	Frame_Shift_Del	DEL	C	C	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:3432431delC	ENST00000344733.5	+	17	4767	c.3863delC	c.(3862-3864)accfs	p.T1288fs	RGS12_ENST00000382788.3_Frame_Shift_Del_p.T1288fs|RGS12_ENST00000336727.3_Frame_Shift_Del_p.T1288fs|RGS12_ENST00000338806.4_Frame_Shift_Del_p.T640fs|RGS12_ENST00000538395.1_3'UTR	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	1288					positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CCTGGGACGACCCCCCCCGGG	0.716																																					p.T1288fs		.											.	RGS12-226	0			c.3863delC						.		,,	42,83,3921		1,0,40,2,79,1901	8.0	10.0	9.0		,,	-0.8	0.0	4		9	90,200,7674		3,0,84,6,188,3701	no	codingComplex,codingComplex,codingComplex	RGS12	NM_198229.2,NM_198227.1,NM_002926.3	,,	4,0,124,8,267,5602	A1A1,A1A2,A1R,A2A2,A2R,RR		3.6414,3.0895,3.4555	,,	,,	3432431	132,283,11595	2152	4241	6393	SO:0001589	frameshift_variant	6002	exon17			GGACGACCCCCCC	AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"""Regulators of G-protein signaling"""	9994	protein-coding gene	gene with protein product		602512	"""regulator of G-protein signalling 12"""			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.3863delC	4.37:g.3432431delC	ENSP00000339381:p.Thr1288fs	30	0		48	23	NM_002926	0	0	0	0	0	B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Frame_Shift_Del	DEL	ENST00000344733.5	37	CCDS3366.1																																																																																			.		0.716	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	NM_002926	
DOK7	285489	hgsc.bcm.edu	37	4	3495047	3495047	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:3495047G>A	ENST00000340083.5	+	7	1399	c.1334G>A	c.(1333-1335)gGc>gAc	p.G445D	DOK7_ENST00000389653.2_Missense_Mutation_p.G445D|DOK7_ENST00000507039.1_3'UTR|DOK7_ENST00000512714.1_3'UTR	NM_173660.4	NP_775931.3	Q18PE1	DOK7_HUMAN	docking protein 7	445					neuromuscular junction development (GO:0007528)|positive regulation of protein tyrosine kinase activity (GO:0061098)|receptor clustering (GO:0043113)	cell junction (GO:0030054)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|protein kinase binding (GO:0019901)			kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		TGTCCCTCTGGCTGGCTGGGC	0.741																																					p.G445D		.											.	DOK7-91	0			c.G1334A						.						6.0	8.0	7.0					4																	3495047		2118	4180	6298	SO:0001583	missense	285489	exon7			CCTCTGGCTGGCT	AK091037	CCDS3370.2, CCDS54717.1	4p16.2	2014-09-17	2006-08-24	2006-08-24	ENSG00000175920	ENSG00000175920			26594	protein-coding gene	gene with protein product		610285	"""chromosome 4 open reading frame 25"""	C4orf25		16794080	Standard	NM_173660		Approved	FLJ33718, FLJ39137, Dok-7	uc003ghd.3	Q18PE1	OTTHUMG00000122087	ENST00000340083.5:c.1334G>A	4.37:g.3495047G>A	ENSP00000344432:p.Gly445Asp	2	0		52	19	NM_173660	0	0	0	0	0	A2A499|A2RRD4|E9PB56|Q6P6A6|Q86XG5|Q8N2J3|Q8NBC1	Missense_Mutation	SNP	ENST00000340083.5	37	CCDS3370.2	.	.	.	.	.	.	.	.	.	.	G	12.50	1.955800	0.34471	.	.	ENSG00000175920	ENST00000389653;ENST00000340083	T;T	0.65364	-0.15;-0.07	4.29	3.37	0.38596	.	0.801223	0.11405	N	0.567414	T	0.59676	0.2211	L	0.57536	1.79	0.26686	N	0.971459	P;P;B	0.41848	0.707;0.763;0.014	B;B;B	0.42422	0.341;0.387;0.011	T	0.49808	-0.8900	10	0.21540	T	0.41	-5.7693	11.9496	0.52948	0.0:0.0:0.826:0.174	.	445;307;445	Q18PE1-3;Q18PE1-2;Q18PE1	.;.;DOK7_HUMAN	D	445	ENSP00000374304:G445D;ENSP00000344432:G445D	ENSP00000344432:G445D	G	+	2	0	DOK7	3464845	0.450000	0.25697	0.865000	0.33974	0.345000	0.29048	1.962000	0.40442	1.965000	0.57142	0.555000	0.69702	GGC	.		0.741	DOK7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313538.1	NM_173660	
ADRA2C	152	bcgsc.ca	37	4	3768889	3768889	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:3768889C>T	ENST00000330055.5	+	1	765	c.556C>T	c.(556-558)Ccg>Tcg	p.P186S	ADRA2C_ENST00000509482.1_Missense_Mutation_p.P186S	NM_000683.3	NP_000674.2	P18825	ADA2C_HUMAN	adrenoceptor alpha 2C	186					activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|energy reserve metabolic process (GO:0006112)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of norepinephrine secretion (GO:0010700)|negative regulation of uterine smooth muscle contraction (GO:0070473)|platelet activation (GO:0030168)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of vasoconstriction (GO:0045907)|regulation of insulin secretion (GO:0050796)|regulation of sensory perception of pain (GO:0051930)|small molecule metabolic process (GO:0044281)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Fenoldopam(DB00800)|Iloperidone(DB04946)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Tizanidine(DB00697)|Tolazoline(DB00797)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CTCCTTCCCGCCGCTGGTCTC	0.672																																					p.P186S	Esophageal Squamous(12;454 628 4517 14479)	.											.	ADRA2C-522	0			c.C556T						.						18.0	20.0	19.0					4																	3768889		2196	4291	6487	SO:0001583	missense	152	exon1			TTCCCGCCGCTGG	AY455666	CCDS47004.1	4p16.3	2013-10-22	2012-05-09		ENSG00000184160	ENSG00000184160		"""GPCR / Class A : Adrenoceptors : alpha"""	283	protein-coding gene	gene with protein product		104250	"""adrenergic, alpha-2C-, receptor"""	ADRA2L2, ADRA2RL2		1849485	Standard	NM_000683		Approved	ADRARL2	uc003ghm.3	P18825	OTTHUMG00000159830	ENST00000330055.5:c.556C>T	4.37:g.3768889C>T	ENSP00000386069:p.Pro186Ser	55	2		139	55	NM_000683	0	0	2	9	7	P35369|Q9HB49	Missense_Mutation	SNP	ENST00000330055.5	37	CCDS47004.1	.	.	.	.	.	.	.	.	.	.	C	16.47	3.132831	0.56828	.	.	ENSG00000184160	ENST00000509482;ENST00000330055	T;T	0.39787	1.06;1.06	3.37	2.52	0.30459	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.66509	0.2796	M	0.88906	2.99	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.73380	0.971;0.98	T	0.71556	-0.4557	9	0.87932	D	0	.	11.6462	0.51263	0.0:0.819:0.181:0.0	.	186;186	D6RGL0;P18825	.;ADA2C_HUMAN	S	186	ENSP00000426268:P186S;ENSP00000386069:P186S	ENSP00000386069:P186S	P	+	1	0	ADRA2C	3738687	1.000000	0.71417	0.991000	0.47740	0.519000	0.34347	6.585000	0.74062	0.605000	0.29947	-0.264000	0.10439	CCG	.		0.672	ADRA2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357607.1	NM_000683	
OTOP1	133060	hgsc.bcm.edu	37	4	4228456	4228456	+	Silent	SNP	G	G	T	rs73191872		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:4228456G>T	ENST00000296358.4	-	1	160	c.136C>A	c.(136-138)Cgg>Agg	p.R46R		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	46					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ACAccgccccgccggggggcc	0.736																																					p.R46R		.											.	OTOP1-92	0			c.C136A						.						4.0	4.0	4.0					4																	4228456		1989	3880	5869	SO:0001819	synonymous_variant	133060	exon1			CGCCCCGCCGGGG	BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.136C>A	4.37:g.4228456G>T		6	0		100	29	NM_177998	0	0	0	0	0	A1L476	Silent	SNP	ENST00000296358.4	37	CCDS3372.1																																																																																			.		0.736	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998	
OTOP1	133060	hgsc.bcm.edu	37	4	4228472	4228472	+	Silent	SNP	T	T	C	rs76810534		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:4228472T>C	ENST00000296358.4	-	1	144	c.120A>G	c.(118-120)gaA>gaG	p.E40E		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	40				E -> K (in Ref. 1; AAI30431/AAI30433). {ECO:0000305}.	biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		gggccggggATTCCGGGGACC	0.756																																					p.E40E		.											.	OTOP1-92	0			c.A120G						.						3.0	4.0	4.0					4																	4228472		1916	3754	5670	SO:0001819	synonymous_variant	133060	exon1			CGGGGATTCCGGG	BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.120A>G	4.37:g.4228472T>C		4	0		69	17	NM_177998	0	0	0	0	0	A1L476	Silent	SNP	ENST00000296358.4	37	CCDS3372.1																																																																																			.		0.756	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998	
CCDC96	257236	hgsc.bcm.edu	37	4	7044357	7044357	+	Silent	SNP	A	A	G	rs871133	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:7044357A>G	ENST00000310085.4	-	1	371	c.309T>C	c.(307-309)gtT>gtC	p.V103V	RP11-367J11.2_ENST00000500031.1_RNA|TADA2B_ENST00000512388.1_5'Flank|TADA2B_ENST00000310074.7_5'Flank	NM_153376.2	NP_699207.1	Q2M329	CCD96_HUMAN	coiled-coil domain containing 96	103	Glu-rich.									endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						CCTCAGCCCCAACCTCGGCCG	0.766													G|||	4833	0.965056	0.8979	0.9856	5008	,	,		11811	1.0		0.9702	False		,,,				2504	1.0				p.V103V		.											.	CCDC96-90	0			c.T309C						.	G		2893,205		1348,197,4	3.0	3.0	3.0		309	-4.5	0.0	4	dbSNP_86	3	6689,125		3282,125,0	no	coding-synonymous	CCDC96	NM_153376.2		4630,322,4	GG,GA,AA		1.8345,6.6172,3.3293		103/556	7044357	9582,330	1549	3407	4956	SO:0001819	synonymous_variant	257236	exon1			AGCCCCAACCTCG	AK075056	CCDS3395.1	4p16.1	2008-02-05			ENSG00000173013	ENSG00000173013			26900	protein-coding gene	gene with protein product							Standard	NM_153376		Approved	FLJ90575	uc003gjv.2	Q2M329	OTTHUMG00000125511	ENST00000310085.4:c.309T>C	4.37:g.7044357A>G		0	0		5	5	NM_153376	0	0	0	1	1	Q8N2I7	Silent	SNP	ENST00000310085.4	37	CCDS3395.1																																																																																			A|0.036;G|0.964		0.766	CCDC96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246838.1	NM_153376	
CCDC96	257236	hgsc.bcm.edu	37	4	7044380	7044380	+	Missense_Mutation	SNP	C	C	T	rs871134	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:7044380C>T	ENST00000310085.4	-	1	348	c.286G>A	c.(286-288)Gag>Aag	p.E96K	RP11-367J11.2_ENST00000500031.1_RNA|TADA2B_ENST00000512388.1_5'Flank|TADA2B_ENST00000310074.7_5'Flank	NM_153376.2	NP_699207.1	Q2M329	CCD96_HUMAN	coiled-coil domain containing 96	96	Glu-rich.		E -> K (in dbSNP:rs871134). {ECO:0000269|PubMed:15489334}.							endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						TCTTCGGGCTCGGGCTGGGGC	0.776													C|||	2561	0.511382	0.3623	0.4741	5008	,	,		11435	0.6429		0.5845	False		,,,				2504	0.5286				p.E96K		.											.	CCDC96-90	0			c.G286A						.	C	LYS/GLU	1411,1153		409,593,280	2.0	2.0	2.0		286	2.2	0.0	4	dbSNP_86	2	3789,2017		1333,1123,447	no	missense	CCDC96	NM_153376.2	56	1742,1716,727	TT,TC,CC		34.7399,44.9688,37.8734	benign	96/556	7044380	5200,3170	1282	2903	4185	SO:0001583	missense	257236	exon1			CGGGCTCGGGCTG	AK075056	CCDS3395.1	4p16.1	2008-02-05			ENSG00000173013	ENSG00000173013			26900	protein-coding gene	gene with protein product							Standard	NM_153376		Approved	FLJ90575	uc003gjv.2	Q2M329	OTTHUMG00000125511	ENST00000310085.4:c.286G>A	4.37:g.7044380C>T	ENSP00000309285:p.Glu96Lys	0	0		4	4	NM_153376	0	0	0	0	0	Q8N2I7	Missense_Mutation	SNP	ENST00000310085.4	37	CCDS3395.1	1153	0.5279304029304029	172	0.34959349593495936	193	0.5331491712707183	349	0.6101398601398601	439	0.579155672823219	C	10.33	1.319932	0.23994	0.550312	0.652601	ENSG00000173013	ENST00000310085	T	0.54479	0.57	3.13	2.24	0.28232	.	0.882045	0.09267	N	0.825735	T	0.00012	0.0000	L	0.32530	0.975	0.45284	P	0.0017160000000000508	B	0.21147	0.052	B	0.09377	0.004	T	0.45585	-0.9251	9	0.14252	T	0.57	-0.0803	4.8536	0.13549	0.0:0.6921:0.0:0.3079	rs871134	96	Q2M329	CCD96_HUMAN	K	96	ENSP00000309285:E96K	ENSP00000309285:E96K	E	-	1	0	CCDC96	7095281	0.001000	0.12720	0.000000	0.03702	0.036000	0.12997	0.781000	0.26774	0.602000	0.29896	0.471000	0.43371	GAG	C|0.472;T|0.528		0.776	CCDC96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246838.1	NM_153376	
GPR78	27201	hgsc.bcm.edu	37	4	8583357	8583357	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:8583357G>A	ENST00000382487.4	+	1	1065	c.648G>A	c.(646-648)ctG>ctA	p.L216L	GPR78_ENST00000509216.1_Intron	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	216				L -> V (in Ref. 1; AAL26479). {ECO:0000305}.	adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						CGCTCGCGCTGCTCGCCGACC	0.692																																					p.L216L		.											.	GPR78-516	0			c.G648A						.						7.0	7.0	7.0					4																	8583357		2148	4206	6354	SO:0001819	synonymous_variant	27201	exon1			CGCGCTGCTCGCC	AF411107	CCDS3403.1	4p16.1	2012-08-21			ENSG00000155269	ENSG00000155269		"""GPCR / Class A : Orphans"""	4528	protein-coding gene	gene with protein product		606921				11574155	Standard	NM_080819		Approved		uc003glk.4	Q96P69	OTTHUMG00000128483	ENST00000382487.4:c.648G>A	4.37:g.8583357G>A		10	0		41	12	NM_080819	0	0	0	0	0	Q8NGV3	Silent	SNP	ENST00000382487.4	37	CCDS3403.1																																																																																			.		0.692	GPR78-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359201.1		
HS3ST1	9957	broad.mit.edu	37	4	11401093	11401093	+	Silent	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:11401093C>T	ENST00000002596.5	-	2	1711	c.537G>A	c.(535-537)gtG>gtA	p.V179V		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	179					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)|sulfotransferase activity (GO:0008146)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						TGCCATCGCGCACCAGGAACT	0.592																																					p.V179V		.											.	HS3ST1-91	0			c.G537A						.						84.0	77.0	80.0					4																	11401093		2203	4300	6503	SO:0001819	synonymous_variant	9957	exon2			ATCGCGCACCAGG	AF019386	CCDS3408.1	4p16	2008-02-05			ENSG00000002587	ENSG00000002587	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5194	protein-coding gene	gene with protein product		603244				9988767	Standard	NM_005114		Approved	3OST1	uc003gmq.3	O14792	OTTHUMG00000090547	ENST00000002596.5:c.537G>A	4.37:g.11401093C>T		185	1		201	6	NM_005114	0	0	0	0	0	B3KUA6|Q6PEY8	Silent	SNP	ENST00000002596.5	37	CCDS3408.1																																																																																			.		0.592	HS3ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207073.3	NM_005114	
LAP3	51056	hgsc.bcm.edu;bcgsc.ca	37	4	17585226	17585226	+	Frame_Shift_Del	DEL	A	A	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:17585226delA	ENST00000226299.4	+	5	774	c.500delA	c.(499-501)caafs	p.Q167fs	LAP3_ENST00000606142.1_Frame_Shift_Del_p.Q136fs	NM_015907.2	NP_056991.2	P28838	AMPL_HUMAN	leucine aminopeptidase 3	167					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235)			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1)	20						GACCTAAAGCAAAAAAAGAAG	0.547																																					p.Q167fs		.											.	LAP3-90	0			c.500delA						.						95.0	99.0	98.0					4																	17585226		2203	4300	6503	SO:0001589	frameshift_variant	51056	exon5			TAAAGCAAAAAAA	AF061738	CCDS3422.1	4p15.33	2012-07-25	2003-09-12		ENSG00000002549	ENSG00000002549	3.4.11.1		18449	protein-coding gene	gene with protein product		170250	"""peptidase S"""	PEPS		6350155, 689684	Standard	NM_015907		Approved	LAPEP, LAP	uc003gph.1	P28838	OTTHUMG00000048214	ENST00000226299.4:c.500delA	4.37:g.17585226delA	ENSP00000226299:p.Gln167fs	154	2		217	101	NM_015907	0	0	0	0	0	B3KMQ3|Q6IAM6|Q6P0L6|Q9UQE3	Frame_Shift_Del	DEL	ENST00000226299.4	37	CCDS3422.1																																																																																			.		0.547	LAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250365.1		
KCNIP4	80333	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	20731736	20731736	+	Missense_Mutation	SNP	C	C	T	rs149977507		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:20731736C>T	ENST00000382152.2	-	9	889	c.722G>A	c.(721-723)cGc>cAc	p.R241H	KCNIP4_ENST00000509207.1_Missense_Mutation_p.R179H|PACRGL_ENST00000507634.1_Intron|KCNIP4_ENST00000359001.5_Missense_Mutation_p.R179H|KCNIP4_ENST00000382148.3_Missense_Mutation_p.R216H|KCNIP4_ENST00000382150.4_Missense_Mutation_p.R220H|KCNIP4_ENST00000382149.4_5'UTR|KCNIP4_ENST00000447367.2_Missense_Mutation_p.R207H	NM_025221.5	NP_079497.2	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4	241	Interaction with KCND2. {ECO:0000250}.					dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				CTGCATGGAGCGCATTATGTT	0.398													C|||	1	0.000199681	0.0	0.0	5008	,	,		18825	0.001		0.0	False		,,,				2504	0.0				p.R221H		.											.	KCNIP4-91	0			c.G662A						.	C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	125.0	118.0	120.0		647,536,722,620,536,659	5.6	1.0	4	dbSNP_134	120	0,8600		0,0,4300	yes	missense,missense,missense,missense,missense,missense	KCNIP4	NM_001035003.1,NM_001035004.1,NM_025221.5,NM_147181.3,NM_147182.3,NM_147183.3	29,29,29,29,29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	216/226,179/189,241/251,207/217,179/189,220/230	20731736	1,13005	2203	4300	6503	SO:0001583	missense	80333	exon8			ATGGAGCGCATTA	AF453244	CCDS3428.1, CCDS43215.1, CCDS43216.1, CCDS43217.1, CCDS47035.1	4p15.32	2013-01-10			ENSG00000185774	ENSG00000185774		"""EF-hand domain containing"""	30083	protein-coding gene	gene with protein product		608182				11805342, 11847232	Standard	XM_005248190		Approved	CALP, KCHIP4, MGC44947	uc003gqh.1	Q6PIL6	OTTHUMG00000128557	ENST00000382152.2:c.722G>A	4.37:g.20731736C>T	ENSP00000371587:p.Arg241His	93	0		93	37	NM_025221	0	0	1	1	0	Q3YAB8|Q3YAB9|Q3YAC0|Q3YAC1|Q3YAC2|Q4W5G8|Q8NEU0|Q9BWT2|Q9H294|Q9H2A4	Missense_Mutation	SNP	ENST00000382152.2	37	CCDS43216.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	20.2	3.947267	0.73672	2.27E-4	0.0	ENSG00000185774	ENST00000382148;ENST00000447367;ENST00000382150;ENST00000413487;ENST00000382152;ENST00000509207;ENST00000359001	T;T;T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34;-0.34;-0.34	5.55	5.55	0.83447	EF-hand-like domain (1);	0.046201	0.85682	D	0.000000	T	0.70727	0.3257	M	0.82323	2.585	0.58432	D	0.999997	P;P;P;D	0.55172	0.907;0.793;0.793;0.97	B;B;B;B	0.39562	0.267;0.213;0.164;0.303	T	0.78259	-0.2273	10	0.59425	D	0.04	.	19.5129	0.95151	0.0:1.0:0.0:0.0	.	216;220;224;241	Q3YAB9;Q3YAC0;Q3YAB7;Q6PIL6	.;.;.;KCIP4_HUMAN	H	216;207;220;179;241;179;179	ENSP00000371583:R216H;ENSP00000399080:R207H;ENSP00000371585:R220H;ENSP00000371587:R241H;ENSP00000423257:R179H;ENSP00000351892:R179H	ENSP00000351892:R179H	R	-	2	0	KCNIP4	20340834	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.980000	0.56895	2.608000	0.88229	0.585000	0.79938	CGC	C|1.000;T|0.000		0.398	KCNIP4-004	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360407.3	NM_025221	
ARAP2	116984	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	36214032	36214032	+	Silent	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:36214032A>G	ENST00000303965.4	-	5	1608	c.1119T>C	c.(1117-1119)ttT>ttC	p.F373F		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	373					regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						ATTTGATGATAAAAGAGTTTG	0.313																																					p.F373F		.											.	ARAP2-93	0			c.T1119C						.						148.0	135.0	140.0					4																	36214032		2203	4300	6503	SO:0001819	synonymous_variant	116984	exon5			GATGATAAAAGAG	AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16924	protein-coding gene	gene with protein product		606645	"""centaurin, delta 1"""	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.1119T>C	4.37:g.36214032A>G		63	0		48	18	NM_015230	0	0	0	0	0	Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Silent	SNP	ENST00000303965.4	37	CCDS3441.1																																																																																			.		0.313	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2	NM_015230	
TBC1D1	23216	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	38119794	38119794	+	Silent	SNP	A	A	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:38119794A>T	ENST00000261439.4	+	17	3298	c.2943A>T	c.(2941-2943)ggA>ggT	p.G981G	TBC1D1_ENST00000508802.1_Intron|TBC1D1_ENST00000407365.1_3'UTR	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	981	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						TCCCGCTGGGATTCGTAGCCA	0.527																																					p.G981G		.											.	TBC1D1-91	0			c.A2943T						.						121.0	117.0	119.0					4																	38119794		2203	4300	6503	SO:0001819	synonymous_variant	23216	exon17			GCTGGGATTCGTA	AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.2943A>T	4.37:g.38119794A>T		68	0		105	41	NM_015173	0	0	13	19	6	B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Silent	SNP	ENST00000261439.4	37	CCDS33972.1	.	.	.	.	.	.	.	.	.	.	A	11.08	1.532786	0.27387	.	.	ENSG00000065882	ENST00000510573	.	.	.	5.7	-7.8	0.01214	.	.	.	.	.	T	0.53190	0.1781	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60737	-0.7204	4	.	.	.	-20.4992	12.1406	0.53996	0.2741:0.6108:0.1151:0.0	.	.	.	.	F	669	.	.	I	+	1	0	TBC1D1	37796189	0.044000	0.20184	0.841000	0.33234	0.976000	0.68499	-0.657000	0.05335	-1.363000	0.02164	-0.316000	0.08728	ATT	.		0.527	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317443.2	NM_015173	
RPL9	6133	broad.mit.edu	37	4	39462464	39462464	+	5'Flank	DEL	A	A	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:39462464delA	ENST00000449470.2	-	0	0				LIAS_ENST00000381846.1_Frame_Shift_Del_p.K36fs|LIAS_ENST00000513731.1_Frame_Shift_Del_p.K36fs|RPL9_ENST00000295955.9_5'Flank|LIAS_ENST00000261434.3_Frame_Shift_Del_p.K36fs|LIAS_ENST00000515061.1_3'UTR|LIAS_ENST00000340169.2_Frame_Shift_Del_p.K36fs	NM_001024921.2	NP_001020092.1	P32969	RL9_HUMAN	ribosomal protein L9						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)|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 large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribosome (GO:0005840)	RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)	p.K36fs*31(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|skin(1)	8						CTTGCCAGATAAAAAAAAGGA	0.393																																					p.K34fs		.											.	LIAS-90	1	Deletion - Frameshift(1)	large_intestine(1)	c.100delA						.						107.0	120.0	115.0					4																	39462464		2203	4300	6503	SO:0001631	upstream_gene_variant	11019	exon2			CCAGATAAAAAAA	D14531	CCDS3452.1	4p13	2011-04-06			ENSG00000163682	ENSG00000163682		"""L ribosomal proteins"""	10369	protein-coding gene	gene with protein product		603686				8597601, 8415001	Standard	XM_005262661		Approved	L9	uc021sso.1	P32969	OTTHUMG00000099367		4.37:g.39462464delA	Exception_encountered	181	0		229	7	NM_194451	0	0	0	0	0		Frame_Shift_Del	DEL	ENST00000449470.2	37	CCDS3452.1																																																																																			.		0.393	RPL9-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361018.1		
LIAS	11019	hgsc.bcm.edu;bcgsc.ca	37	4	39466916	39466916	+	Frame_Shift_Del	DEL	G	G	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:39466916delG	ENST00000261434.3	+	6	680	c.562delG	c.(562-564)gggfs	p.G189fs	LIAS_ENST00000381846.1_Frame_Shift_Del_p.G189fs|LIAS_ENST00000513731.1_Intron|LIAS_ENST00000515061.1_3'UTR|LIAS_ENST00000340169.2_Frame_Shift_Del_p.G189fs	NM_006859.2	NP_006850.2			lipoic acid synthetase											breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)|ovary(2)	12						TATGCCTGATGGGGGAGCTGA	0.398																																					p.G188fs		.											.	LIAS-90	0			c.562delG						.						172.0	165.0	167.0					4																	39466916		2203	4300	6503	SO:0001589	frameshift_variant	11019	exon6			CCTGATGGGGGAG	AJ224162	CCDS3453.1, CCDS3454.1, CCDS63950.1	4p14	2008-02-05			ENSG00000121897	ENSG00000121897			16429	protein-coding gene	gene with protein product		607031				11124703	Standard	NM_006859		Approved	LAS	uc003guf.3	O43766	OTTHUMG00000099369	ENST00000261434.3:c.562delG	4.37:g.39466916delG	ENSP00000261434:p.Gly189fs	115	0		131	55	NM_194451	0	0	0	0	0		Frame_Shift_Del	DEL	ENST00000261434.3	37	CCDS3453.1																																																																																			.		0.398	LIAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216815.1	NM_194451	
PDS5A	23244	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	39868540	39868540	+	Silent	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:39868540A>G	ENST00000303538.8	-	23	3122	c.2583T>C	c.(2581-2583)ctT>ctC	p.L861L		NM_001100399.1	NP_001093869.1			PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)											breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						ATAATAACCGAAGGGTTGAAT	0.383																																					p.L861L		.											.	.	0			c.T2583C						.						71.0	67.0	68.0					4																	39868540		1870	4116	5986	SO:0001819	synonymous_variant	23244	exon23			TAACCGAAGGGTT	AF294791	CCDS47045.1, CCDS54759.1	4p14	2007-06-20			ENSG00000121892	ENSG00000121892			29088	protein-coding gene	gene with protein product		613200				11076961, 15855230	Standard	NM_001100399		Approved	KIAA0648, PIG54, SCC-112	uc003guv.4	Q29RF7	OTTHUMG00000160582	ENST00000303538.8:c.2583T>C	4.37:g.39868540A>G		103	0		89	32	NM_001100399	0	0	39	55	16		Silent	SNP	ENST00000303538.8	37	CCDS47045.1																																																																																			.		0.383	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361287.1	NM_015200	
CHRNA9	55584	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	40339332	40339332	+	Silent	SNP	A	A	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:40339332A>C	ENST00000310169.2	+	3	455	c.316A>C	c.(316-318)Agg>Cgg	p.R106R	CHRNA9_ENST00000502377.1_3'UTR	NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	106					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|inner ear morphogenesis (GO:0042472)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|synaptic transmission (GO:0007268)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine-activated cation-selective channel activity (GO:0004889)|calcium channel activity (GO:0005262)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Galantamine(DB00674)|Nicotine(DB00184)	AGACTCCATCAGGATCCCCAG	0.483																																					p.R106R	Esophageal Squamous(115;1297 1602 22235 25158 43327)	.											.	CHRNA9-96	0			c.A316C						.						88.0	73.0	78.0					4																	40339332		2203	4300	6503	SO:0001819	synonymous_variant	55584	exon3			TCCATCAGGATCC	AF227732	CCDS3459.1	4p14	2012-02-11	2012-02-07		ENSG00000174343	ENSG00000174343		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	14079	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 9 (neuronal)"""	605116	"""cholinergic receptor, nicotinic, alpha polypeptide 9"""				Standard	NM_017581		Approved	NACHRA9	uc003gva.2	Q9UGM1	OTTHUMG00000099375	ENST00000310169.2:c.316A>C	4.37:g.40339332A>C		154	1		156	62	NM_017581	0	0	0	0	0	Q14CY7|Q4W5A2|Q9NYV2	Silent	SNP	ENST00000310169.2	37	CCDS3459.1																																																																																			.		0.483	CHRNA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216822.1		
CWH43	80157	hgsc.bcm.edu;bcgsc.ca	37	4	49009291	49009291	+	Frame_Shift_Del	DEL	A	A	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:49009291delA	ENST00000226432.4	+	8	1317	c.1134delA	c.(1132-1134)acafs	p.T378fs	CWH43_ENST00000513409.1_Frame_Shift_Del_p.T351fs	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	378					GPI anchor biosynthetic process (GO:0006506)	integral component of membrane (GO:0016021)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						TTCTTCAAACAAAAAACAGTT	0.269																																					p.T378fs		.											.	CWH43-93	0			c.1134delA						.						82.0	83.0	82.0					4																	49009291		2202	4299	6501	SO:0001589	frameshift_variant	80157	exon8			TCAAACAAAAAAC		CCDS3486.1, CCDS68697.1	4p12-p11	2010-09-21			ENSG00000109182	ENSG00000109182			26133	protein-coding gene	gene with protein product						17714445, 17761529	Standard	NM_025087		Approved	FLJ21511, CWH43-C	uc003gyv.3	Q9H720	OTTHUMG00000128627	ENST00000226432.4:c.1134delA	4.37:g.49009291delA	ENSP00000226432:p.Thr378fs	99	2		90	32	NM_025087	0	0	0	0	0	B2RPD7	Frame_Shift_Del	DEL	ENST00000226432.4	37	CCDS3486.1																																																																																			.		0.269	CWH43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250496.2	NM_025087	
PDGFRA	5156	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	55153648	55153648	+	Missense_Mutation	SNP	T	T	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:55153648T>G	ENST00000257290.5	+	19	2945	c.2614T>G	c.(2614-2616)Tac>Gac	p.Y872D	FIP1L1_ENST00000507166.1_Missense_Mutation_p.Y632D	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	872	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	TGACAACCTCTACACCACACT	0.488			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											p.Y872D	Pancreas(151;208 1913 7310 23853 37092)	.		Dom	yes		4	4q11-q13	5156	"""platelet-derived growth factor, alpha-receptor"""		"""L, M, O"""	.	PDGFRA-9497	0			c.T2614G						.						297.0	261.0	274.0					4																	55153648		2203	4300	6503	SO:0001583	missense	5156	exon19	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	AACCTCTACACCA	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.2614T>G	4.37:g.55153648T>G	ENSP00000257290:p.Tyr872Asp	143	0		185	85	NM_006206	0	0	0	0	0	B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	T	26.9	4.777089	0.90195	.	.	ENSG00000145216;ENSG00000134853	ENST00000507166;ENST00000257290	D;D	0.91577	-2.87;-2.87	5.64	5.64	0.86602	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.29676	U	0.011485	D	0.95014	0.8386	M	0.75777	2.31	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95484	0.8563	10	0.87932	D	0	.	15.8619	0.79032	0.0:0.0:0.0:1.0	.	872	P16234	PGFRA_HUMAN	D	632;872	ENSP00000423325:Y632D;ENSP00000257290:Y872D	ENSP00000423325:Y632D	Y	+	1	0	FIP1L1;PDGFRA	54848405	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.967000	0.87967	2.160000	0.67779	0.482000	0.46254	TAC	.		0.488	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206	
SRP72	6731	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	57357651	57357651	+	Missense_Mutation	SNP	G	G	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:57357651G>T	ENST00000342756.5	+	16	2278	c.1557G>T	c.(1555-1557)gaG>gaT	p.E519D	SRP72_ENST00000510663.1_Missense_Mutation_p.E458D	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN	signal recognition particle 72kDa	519					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					TAGATGTTGAGGCTCTTGAAA	0.378																																					p.E519D		.											.	SRP72-116	0			c.G1557T						.						150.0	153.0	152.0					4																	57357651		2203	4300	6503	SO:0001583	missense	6731	exon16			TGTTGAGGCTCTT	AF069765	CCDS3506.1, CCDS58898.1	4q11	2013-01-10	2002-08-29		ENSG00000174780	ENSG00000174780		"""Tetratricopeptide (TTC) repeat domain containing"""	11303	protein-coding gene	gene with protein product		602122	"""signal recognition particle 72kD"""			9224693, 9857079	Standard	NM_006947		Approved		uc003hbv.3	O76094	OTTHUMG00000128843	ENST00000342756.5:c.1557G>T	4.37:g.57357651G>T	ENSP00000342181:p.Glu519Asp	126	0		159	60	NM_006947	0	0	35	75	40	G5E9Z8|Q7Z3C0	Missense_Mutation	SNP	ENST00000342756.5	37	CCDS3506.1	.	.	.	.	.	.	.	.	.	.	G	3.501	-0.101775	0.06967	.	.	ENSG00000174780	ENST00000342756;ENST00000537129;ENST00000510663;ENST00000505314	T;T	0.73363	-0.74;-0.69	5.28	2.52	0.30459	.	0.044787	0.85682	D	0.000000	T	0.36690	0.0976	N	0.01424	-0.875	0.33639	D	0.607021	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.06405	0.0;0.001;0.002	T	0.42999	-0.9418	10	0.02654	T	1	.	4.9119	0.13825	0.1672:0.0:0.5355:0.2973	.	458;519;519	G5E9Z8;Q86X80;O76094	.;.;SRP72_HUMAN	D	519;464;458;280	ENSP00000342181:E519D;ENSP00000424576:E458D	ENSP00000342181:E519D	E	+	3	2	SRP72	57052408	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	0.837000	0.27558	0.674000	0.31244	-0.150000	0.13652	GAG	.		0.378	SRP72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250782.7		
IGFBP7	3490	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	4	57907052	57907052	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:57907052C>T	ENST00000295666.4	-	2	556	c.523G>A	c.(523-525)Gcc>Acc	p.A175T	IGFBP7_ENST00000512512.1_5'UTR|IGFBP7_ENST00000537922.1_Missense_Mutation_p.A175T	NM_001553.2	NP_001544.1	Q16270	IBP7_HUMAN	insulin-like growth factor binding protein 7	175	Ig-like C2-type.				cell adhesion (GO:0007155)|cellular response to hormone stimulus (GO:0032870)|embryo implantation (GO:0007566)|inner ear development (GO:0048839)|negative regulation of cell proliferation (GO:0008285)|regulation of cell growth (GO:0001558)|regulation of steroid biosynthetic process (GO:0050810)|response to cortisol (GO:0051414)|response to heat (GO:0009408)|response to retinoic acid (GO:0032526)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(1)|lung(3)	5	Glioma(25;0.08)|all_neural(26;0.181)				"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TACACCTGGGCACCAGTGACA	0.517																																					p.A175T		.											.	IGFBP7-522	0			c.G523A						.						95.0	80.0	85.0					4																	57907052		2203	4300	6503	SO:0001583	missense	3490	exon2			CCTGGGCACCAGT	S75725	CCDS3512.1	4q12	2013-01-11			ENSG00000163453	ENSG00000163453		"""Immunoglobulin superfamily / I-set domain containing"""	5476	protein-coding gene	gene with protein product		602867				7694637, 7980422	Standard	NM_001553		Approved	MAC25, IGFBP-7, PSF, FSTL2	uc003hcn.3	Q16270	OTTHUMG00000128772	ENST00000295666.4:c.523G>A	4.37:g.57907052C>T	ENSP00000295666:p.Ala175Thr	141	0		147	63	NM_001553	0	1	1722	1724	1	B4E1N2|B7Z9W7|Q07822|Q53YE6|Q9UCA8	Missense_Mutation	SNP	ENST00000295666.4	37	CCDS3512.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409650	0.83340	.	.	ENSG00000163453	ENST00000295666;ENST00000537922	T;T	0.41065	1.01;1.01	5.78	5.78	0.91487	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.238545	0.36482	N	0.002567	T	0.38532	0.1044	N	0.13235	0.315	0.49687	D	0.999814	D;D	0.57571	0.98;0.98	P;P	0.51516	0.672;0.672	T	0.10660	-1.0620	10	0.25751	T	0.34	-12.4681	18.1945	0.89817	0.0:1.0:0.0:0.0	.	175;175	B4E1N2;Q16270	.;IBP7_HUMAN	T	175	ENSP00000295666:A175T;ENSP00000444146:A175T	ENSP00000295666:A175T	A	-	1	0	IGFBP7	57601809	1.000000	0.71417	0.967000	0.41034	0.868000	0.49771	4.396000	0.59684	2.724000	0.93272	0.563000	0.77884	GCC	.		0.517	IGFBP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250693.1		
CENPC	1060	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	68380317	68380317	+	Nonsense_Mutation	SNP	C	C	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:68380317C>A	ENST00000273853.6	-	8	1169	c.919G>T	c.(919-921)Gag>Tag	p.E307*		NM_001812.2	NP_001803.2	Q03188	CENPC_HUMAN	centromere protein C	307					chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	centromeric DNA binding (GO:0019237)|DNA binding (GO:0003677)										TGATCCGACTCATCAATTATA	0.463																																					p.E307X		.											.	CENPC1-205	0			c.G919T						.						70.0	63.0	65.0					4																	68380317		1925	4124	6049	SO:0001587	stop_gained	1060	exon8			CCGACTCATCAAT	M95724	CCDS47063.1	4q13.2	2013-11-05	2013-07-03	2013-07-03	ENSG00000145241	ENSG00000145241			1854	protein-coding gene	gene with protein product		117141	"""centromere protein C 1"""	CENPC1		7959789	Standard	XR_245245		Approved	CENP-C, hcp-4, MIF2	uc003hdd.1	Q03188	OTTHUMG00000160735	ENST00000273853.6:c.919G>T	4.37:g.68380317C>A	ENSP00000273853:p.Glu307*	71	0		70	25	NM_001812	0	0	5	7	2	Q8IW27|Q9P0M5	Nonsense_Mutation	SNP	ENST00000273853.6	37	CCDS47063.1	.	.	.	.	.	.	.	.	.	.	C	35	5.488491	0.96323	.	.	ENSG00000145241	ENST00000273853	.	.	.	4.62	2.86	0.33363	.	0.325295	0.26143	N	0.026088	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-2.066	6.4897	0.22109	0.0:0.7169:0.1829:0.1002	.	.	.	.	X	307	.	ENSP00000273853:E307X	E	-	1	0	CENPC1	68062912	0.782000	0.28689	0.986000	0.45419	0.523000	0.34469	0.091000	0.15046	0.642000	0.30620	0.591000	0.81541	GAG	.		0.463	CENPC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362001.2		
UBA6	55236	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	68530972	68530972	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:68530972C>T	ENST00000322244.5	-	10	891	c.832G>A	c.(832-834)Gaa>Aaa	p.E278K	UBA6_ENST00000420827.2_Missense_Mutation_p.E278K	NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	278					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|FAT10 activating enzyme activity (GO:0019780)|ligase activity (GO:0016874)			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						GGTTCCAGTTCTGTGGTGTCA	0.294																																					p.E278K		.											.	UBA6-90	0			c.G832A						.						79.0	86.0	83.0					4																	68530972		2202	4297	6499	SO:0001583	missense	55236	exon10			CCAGTTCTGTGGT	AK094164	CCDS3516.1	4q13.2	2008-02-05	2007-11-30	2007-11-30	ENSG00000033178	ENSG00000033178		"""Ubiquitin-like modifier activating enzymes"""	25581	protein-coding gene	gene with protein product	"""UBA6, ubiquitin-activating enzyme E1"""	611361	"""ubiquitin-activating enzyme E1-like 2"""	UBE1L2		17580310	Standard	NM_018227		Approved	FLJ10808	uc003hdg.4	A0AVT1	OTTHUMG00000129299	ENST00000322244.5:c.832G>A	4.37:g.68530972C>T	ENSP00000313454:p.Glu278Lys	163	0		173	66	NM_018227	0	0	11	25	14	A6N8M7|B2RAV3|Q4W5K0|Q6UV21|Q86T78|Q86TC7|Q8N5T3|Q8N9E4|Q9H3T7|Q9NVC9	Missense_Mutation	SNP	ENST00000322244.5	37	CCDS3516.1	.	.	.	.	.	.	.	.	.	.	C	11.64	1.699935	0.30142	.	.	ENSG00000033178	ENST00000322244;ENST00000420827	T;T	0.29655	1.56;1.56	5.53	0.59	0.17458	Molybdenum cofactor biosynthesis, MoeB (1);	0.552015	0.21166	N	0.079076	T	0.12987	0.0315	N	0.16862	0.45	0.26049	N	0.98151	B;B;B	0.09022	0.001;0.002;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.35375	-0.9791	10	0.05721	T	0.95	-26.121	6.931	0.24442	0.0:0.452:0.3489:0.199	.	278;278;278	A0AVT1-4;A0AVT1-3;A0AVT1	.;.;UBA6_HUMAN	K	278	ENSP00000313454:E278K;ENSP00000399234:E278K	ENSP00000313454:E278K	E	-	1	0	UBA6	68213567	0.044000	0.20184	0.956000	0.39512	0.993000	0.82548	-0.008000	0.12788	-0.133000	0.11537	0.585000	0.79938	GAA	.		0.294	UBA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251429.2	NM_018227	
TMPRSS11E	28983	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	69343139	69343139	+	Missense_Mutation	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:69343139T>C	ENST00000305363.4	+	8	824	c.760T>C	c.(760-762)Tcg>Ccg	p.S254P		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	254	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cognition (GO:0050890)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						AATAAAACCTTCGAAAATGAA	0.388																																					p.S254P		.											.	TMPRSS11E-70	0			c.T760C						.						146.0	159.0	154.0					4																	69343139		2203	4296	6499	SO:0001583	missense	28983	exon8			AAACCTTCGAAAA	AF064819	CCDS33993.1	4q13.2	2010-04-13			ENSG00000087128	ENSG00000087128		"""Serine peptidases / Transmembrane"""	24465	protein-coding gene	gene with protein product		610399	"""transmembrane protease, serine 11E2"""	TMPRSS11E2		15328353	Standard	NM_014058		Approved	DESC1	uc003hdz.4	Q9UL52	OTTHUMG00000160438	ENST00000305363.4:c.760T>C	4.37:g.69343139T>C	ENSP00000307519:p.Ser254Pro	186	0		204	96	NM_014058	0	0	0	0	0	A6NL71|Q14DC8|Q6UW31	Missense_Mutation	SNP	ENST00000305363.4	37	CCDS33993.1	.	.	.	.	.	.	.	.	.	.	T	0	-2.599453	0.00125	.	.	ENSG00000087128	ENST00000305363	D	0.89343	-2.5	5.38	-2.25	0.06888	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.738620	0.03786	N	0.262067	T	0.70842	0.3270	N	0.04669	-0.19	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.66724	-0.5851	10	0.02654	T	1	.	5.5434	0.17051	0.0:0.3731:0.2412:0.3857	.	254	Q9UL52	TM11E_HUMAN	P	254	ENSP00000307519:S254P	ENSP00000307519:S254P	S	+	1	0	TMPRSS11E	69025734	0.001000	0.12720	0.001000	0.08648	0.008000	0.06430	-0.020000	0.12525	-0.528000	0.06366	-1.227000	0.01581	TCG	.		0.388	TMPRSS11E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360584.1	NM_014058	
UGT2B10	7365	broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	69682216	69682216	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:69682216C>T	ENST00000265403.7	+	1	506	c.479C>T	c.(478-480)gCt>gTt	p.A160V	UGT2B10_ENST00000458688.2_Intron	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	160					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						GAGCTGCTGGCTGAGCTATTT	0.393																																					.	Melanoma(133;755 1763 25578 26334 46021)	.											.	UGT2B10-65	0			.						.						139.0	135.0	137.0					4																	69682216		2202	4297	6499	SO:0001583	missense	7365	.			TGCTGGCTGAGCT	X63359	CCDS75135.1, CCDS75136.1	4q13.3	2008-02-05	2005-07-20			ENSG00000109181		"""UDP glucuronosyltransferases"""	12544	protein-coding gene	gene with protein product		600070	"""UDP glycosyltransferase 2 family, polypeptide B10"""			8333863	Standard	NM_001075		Approved		uc003hee.3	P36537		ENST00000265403.7:c.479C>T	4.37:g.69682216C>T	ENSP00000265403:p.Ala160Val	305	2		409	181	.	0	0	0	0	0	A8K9M3|B4DPP1|Q14CR8	Missense_Mutation	SNP	ENST00000265403.7	37		.	.	.	.	.	.	.	.	.	.	c	17.94	3.510973	0.64522	.	.	ENSG00000109181	ENST00000265403	T	0.74421	-0.84	2.63	2.63	0.31362	.	0.000000	0.64402	U	0.000009	D	0.84456	0.5476	M	0.88377	2.95	0.80722	D	1	D	0.57571	0.98	P	0.59595	0.86	D	0.86687	0.1920	10	0.87932	D	0	.	10.7026	0.45937	0.0:1.0:0.0:0.0	.	160	P36537	UDB10_HUMAN	V	160	ENSP00000265403:A160V	ENSP00000265403:A160V	A	+	2	0	UGT2B10	69716805	1.000000	0.71417	0.275000	0.24674	0.013000	0.08279	6.485000	0.73625	1.309000	0.44985	0.184000	0.17185	GCT	.		0.393	UGT2B10-001	KNOWN	non_canonical_polymorphism|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365169.1	NM_001075	
ODAM	54959	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	71068483	71068483	+	Missense_Mutation	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:71068483A>G	ENST00000396094.2	+	9	707	c.659A>G	c.(658-660)gAa>gGa	p.E220G		NM_017855.3	NP_060325.3	A1E959	ODAM_HUMAN	odontogenic, ameloblast asssociated	220					biomineral tissue development (GO:0031214)|odontogenesis of dentin-containing tooth (GO:0042475)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|fibril (GO:0043205)|nucleus (GO:0005634)				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						TCAACAGGAGAAGAGATACCA	0.388																																					p.E220G		.											.	ODAM-134	0			c.A659G						.						61.0	57.0	58.0					4																	71068483		2202	4298	6500	SO:0001583	missense	54959	exon9			CAGGAGAAGAGAT	AK000520	CCDS3536.2	4q13.3	2010-11-23			ENSG00000109205	ENSG00000109205			26043	protein-coding gene	gene with protein product		614843				14647039	Standard	NM_017855		Approved	APin, FLJ20513	uc003hfc.3	A1E959	OTTHUMG00000129406	ENST00000396094.2:c.659A>G	4.37:g.71068483A>G	ENSP00000379401:p.Glu220Gly	141	1		185	76	NM_017855	0	0	0	0	0	Q8WWE5|Q9NWZ9	Missense_Mutation	SNP	ENST00000396094.2	37	CCDS3536.2	.	.	.	.	.	.	.	.	.	.	A	0.010	-1.763002	0.00651	.	.	ENSG00000109205	ENST00000396094;ENST00000510709;ENST00000514097	T;T	0.46063	0.88;0.88	4.7	-3.19	0.05171	.	1.059290	0.07372	N	0.885978	T	0.24084	0.0583	N	0.15975	0.35	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.25293	-1.0136	10	0.25106	T	0.35	1.3334	10.8988	0.47038	0.6705:0.0:0.3295:0.0	.	220	A1E959	ODAM_HUMAN	G	220;206;157	ENSP00000379401:E220G;ENSP00000426106:E157G	ENSP00000379401:E220G	E	+	2	0	ODAM	71103072	0.035000	0.19736	0.107000	0.21349	0.003000	0.03518	-0.287000	0.08388	-0.611000	0.05709	-0.242000	0.12053	GAA	.		0.388	ODAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251562.1	NM_017855	
CABS1	85438	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	71201374	71201374	+	Missense_Mutation	SNP	G	G	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:71201374G>T	ENST00000273936.5	+	1	692	c.618G>T	c.(616-618)caG>caT	p.Q206H		NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN	calcium-binding protein, spermatid-specific 1	206					spermatogenesis (GO:0007283)	mitochondrial inner membrane (GO:0005743)|motile cilium (GO:0031514)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						AGGCTGTCCAGGTCACTGATT	0.443																																					p.Q206H		.											.	CABS1-93	0			c.G618T						.						67.0	72.0	70.0					4																	71201374		2203	4299	6502	SO:0001583	missense	85438	exon1			TGTCCAGGTCACT	AF380838	CCDS3539.1	4q13.3	2013-10-11	2011-01-25	2011-01-25	ENSG00000145309	ENSG00000145309			30710	protein-coding gene	gene with protein product	"""casein-like phosphoprotein"""		"""chromosome 4 open reading frame 35"""	C4orf35		19208547, 19271754	Standard	NM_033122		Approved	NYD-SP26, FLJ32897, CLPH	uc003hff.3	Q96KC9	OTTHUMG00000129405	ENST00000273936.5:c.618G>T	4.37:g.71201374G>T	ENSP00000273936:p.Gln206His	156	1		186	89	NM_033122	0	0	0	0	0	B2RCB5|Q86UE0|Q96M17	Missense_Mutation	SNP	ENST00000273936.5	37	CCDS3539.1	.	.	.	.	.	.	.	.	.	.	G	8.996	0.978970	0.18812	.	.	ENSG00000145309	ENST00000273936	T	0.26810	1.71	4.35	-2.81	0.05805	.	0.875616	0.09507	N	0.792873	T	0.12689	0.0308	N	0.20986	0.625	0.09310	N	1	B	0.09022	0.002	B	0.12156	0.007	T	0.30208	-0.9986	10	0.45353	T	0.12	-44.9863	1.2043	0.01891	0.1845:0.1343:0.2358:0.4455	.	206	Q96KC9	CABS1_HUMAN	H	206	ENSP00000273936:Q206H	ENSP00000273936:Q206H	Q	+	3	2	CABS1	71235963	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.048000	0.03517	-0.381000	0.07882	0.655000	0.94253	CAG	.		0.443	CABS1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251561.3	NM_033122	
ADAMTS3	9508	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	73148985	73148985	+	Silent	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:73148985T>C	ENST00000286657.4	-	22	3522	c.3486A>G	c.(3484-3486)tcA>tcG	p.S1162S		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	1162					collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CAGCCATTTGTGAAGCTGAAC	0.502																																					p.S1162S	NSCLC(168;1941 2048 2918 13048 43078)	.											.	ADAMTS3-651	0			c.A3486G						.						189.0	168.0	175.0					4																	73148985		2203	4300	6503	SO:0001819	synonymous_variant	9508	exon22			CATTTGTGAAGCT	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.3486A>G	4.37:g.73148985T>C		108	0		136	51	NM_014243	0	0	0	0	0	A1L3U9|Q9BXZ8	Silent	SNP	ENST00000286657.4	37	CCDS3553.1																																																																																			.		0.502	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2		
AFP	174	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	74303978	74303978	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:74303978G>A	ENST00000395792.2	+	3	325	c.225G>A	c.(223-225)gaG>gaA	p.E75E	AFP_ENST00000226359.2_Silent_p.E75E	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	alpha-fetoprotein	75	Albumin 1. {ECO:0000255|PROSITE- ProRule:PRU00769}.				ovulation from ovarian follicle (GO:0001542)|progesterone metabolic process (GO:0042448)|SMAD protein signal transduction (GO:0060395)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CTGCAATTGAGAAACCCACTg	0.358									Alpha-Fetoprotein, Hereditary Persistence of																												p.E75E		.											.	AFP-91	0			c.G225A						.						100.0	97.0	98.0					4																	74303978		2203	4300	6503	SO:0001819	synonymous_variant	174	exon3	Familial Cancer Database	HPAFP	AATTGAGAAACCC	V01514	CCDS3556.1	4q13.3	2012-05-16			ENSG00000081051	ENSG00000081051			317	protein-coding gene	gene with protein product		104150		HPAFP			Standard	NM_001134		Approved	FETA	uc003hgz.1	P02771	OTTHUMG00000130011	ENST00000395792.2:c.225G>A	4.37:g.74303978G>A		63	0		74	25	NM_001134	0	0	0	0	0	B2RBU3	Silent	SNP	ENST00000395792.2	37	CCDS3556.1																																																																																			.		0.358	AFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252284.3		
MTHFD2L	441024	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	75041061	75041061	+	Missense_Mutation	SNP	C	C	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:75041061C>G	ENST00000395759.2	+	3	419	c.392C>G	c.(391-393)aCt>aGt	p.T131S	MTHFD2L_ENST00000331145.6_Missense_Mutation_p.T73S|MTHFD2L_ENST00000433372.1_5'UTR|MTHFD2L_ENST00000325278.6_Missense_Mutation_p.T73S	NM_001144978.1	NP_001138450.1	Q9H903	MTD2L_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like	131					folic acid-containing compound biosynthetic process (GO:0009396)|histidine biosynthetic process (GO:0000105)|methionine biosynthetic process (GO:0009086)|one-carbon metabolic process (GO:0006730)|purine nucleotide biosynthetic process (GO:0006164)|tetrahydrofolate interconversion (GO:0035999)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NAD+) activity (GO:0004487)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)			central_nervous_system(1)|endometrium(1)|lung(4)|ovary(2)	8			all cancers(17;0.0101)|Lung(101;0.196)			TTGGACGTAACTGATCAATTG	0.363																																					p.T131S		.											.	MTHFD2L-91	0			c.C392G						.						141.0	138.0	139.0					4																	75041061		2203	4300	6503	SO:0001583	missense	441024	exon3			ACGTAACTGATCA	BC065771	CCDS47075.1	4q13.3	2011-08-03			ENSG00000163738	ENSG00000163738			31865	protein-coding gene	gene with protein product		614047				21163947	Standard	NM_001144978		Approved	MGC72244	uc011cbk.2	Q9H903	OTTHUMG00000157135	ENST00000395759.2:c.392C>G	4.37:g.75041061C>G	ENSP00000379108:p.Thr131Ser	114	1		160	72	NM_001144978	0	0	0	3	3	Q6P079|Q8N560	Missense_Mutation	SNP	ENST00000395759.2	37	CCDS47075.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.270324	0.40194	.	.	ENSG00000163738	ENST00000395759;ENST00000331145;ENST00000359107;ENST00000325278	T;T;T;T	0.29397	1.97;1.57;1.57;1.98	5.36	3.65	0.41850	Tetrahydrofolate dehydrogenase/cyclohydrolase, NAD(P)-binding domain (1);NAD(P)-binding domain (1);	0.284421	0.39615	N	0.001303	T	0.19765	0.0475	N	0.22421	0.69	0.29169	N	0.877259	B;B	0.24258	0.1;0.012	B;B	0.25405	0.06;0.015	T	0.14172	-1.0482	10	0.87932	D	0	-14.6247	7.1063	0.25366	0.0:0.7353:0.0:0.2647	.	131;73	Q9H903;Q9H903-3	MTD2L_HUMAN;.	S	131;73;73;73	ENSP00000379108:T131S;ENSP00000330982:T73S;ENSP00000352012:T73S;ENSP00000321984:T73S	ENSP00000321984:T73S	T	+	2	0	MTHFD2L	75259925	0.886000	0.30341	0.994000	0.49952	0.883000	0.51084	1.215000	0.32431	0.851000	0.35264	-0.152000	0.13540	ACT	.		0.363	MTHFD2L-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001004346	
FAM47E	100129583	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	4	77177441	77177441	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:77177441G>A	ENST00000424749.2	+	2	191	c.185G>A	c.(184-186)tGc>tAc	p.C62Y	FAM47E_ENST00000510197.1_Intron|FAM47E_ENST00000515604.1_Missense_Mutation_p.C62Y|FAM47E_ENST00000515589.1_3'UTR|FAM47E-STBD1_ENST00000539752.1_Intron|FAM47E_ENST00000339906.6_Intron	NM_001136570.2	NP_001130042.1	Q6ZV65	FA47E_HUMAN	family with sequence similarity 47, member E	62																	TGCCCGCCTTGCACTGGTCTG	0.577																																					p.C62Y		.											.	.	0			c.G185A						.						47.0	51.0	50.0					4																	77177441		692	1591	2283	SO:0001583	missense	0	exon2			CGCCTTGCACTGG	AC034139, AK124936, CR591456, CR627383	CCDS47081.1, CCDS58907.1	4q21.1	2013-04-23			ENSG00000189157	ENSG00000189157			34343	protein-coding gene	gene with protein product	"""similar to genethonin 1"""						Standard	NM_001136570		Approved	FLJ42946, LOC100129583	uc003hjx.3	Q6ZV65	OTTHUMG00000185390	ENST00000424749.2:c.185G>A	4.37:g.77177441G>A	ENSP00000409423:p.Cys62Tyr	87	0		90	33	NM_001242939	0	0	0	1	1	D6R8Y4	Missense_Mutation	SNP	ENST00000424749.2	37	CCDS47081.1	.	.	.	.	.	.	.	.	.	.	G	10.52	1.373732	0.24857	.	.	ENSG00000189157	ENST00000515604;ENST00000424749	T;T	0.13307	2.6;2.6	4.78	3.02	0.34903	.	.	.	.	.	T	0.10165	0.0249	M	0.62723	1.935	0.09310	N	0.999997	B;P	0.37500	0.133;0.597	B;B	0.32090	0.043;0.14	T	0.18272	-1.0342	9	0.02654	T	1	.	6.0144	0.19594	0.1764:0.2565:0.5672:0.0	.	62;62	Q6ZV65-1;Q6ZV65	.;FA47E_HUMAN	Y	62	ENSP00000422067:C62Y;ENSP00000409423:C62Y	ENSP00000409423:C62Y	C	+	2	0	FAM47E	77396465	0.001000	0.12720	0.006000	0.13384	0.010000	0.07245	0.319000	0.19522	1.002000	0.39104	0.591000	0.81541	TGC	.		0.577	FAM47E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362528.2	NM_001136570	
SHROOM3	57619	broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	77692038	77692038	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:77692038G>A	ENST00000296043.6	+	10	6562	c.5609G>A	c.(5608-5610)aGt>aAt	p.S1870N	RP11-359D14.3_ENST00000449007.1_RNA	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1870	ASD2. {ECO:0000255|PROSITE- ProRule:PRU00638}.				actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GAAGATGCCAGTAATGAAGAA	0.522																																					p.S1870N		.											.	SHROOM3-93	0			c.G5609A						.						105.0	103.0	104.0					4																	77692038		2203	4300	6503	SO:0001583	missense	57619	exon10			ATGCCAGTAATGA	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.5609G>A	4.37:g.77692038G>A	ENSP00000296043:p.Ser1870Asn	195	2		276	112	NM_020859	0	0	0	0	0	Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	ENST00000296043.6	37	CCDS3579.2	.	.	.	.	.	.	.	.	.	.	G	6.902	0.535950	0.13188	.	.	ENSG00000138771	ENST00000296043	T	0.30448	1.53	5.53	2.56	0.30785	Apx/shroom, ASD2 (2);	0.339504	0.31156	N	0.008146	T	0.14485	0.0350	N	0.20483	0.58	0.26475	N	0.975201	B	0.25772	0.134	B	0.23574	0.047	T	0.17684	-1.0361	10	0.15066	T	0.55	-14.3164	4.2355	0.10623	0.1793:0.4777:0.3429:0.0	.	1870	Q8TF72	SHRM3_HUMAN	N	1870	ENSP00000296043:S1870N	ENSP00000296043:S1870N	S	+	2	0	SHROOM3	77911062	0.508000	0.26154	0.887000	0.34795	0.041000	0.13682	2.013000	0.40942	0.831000	0.34780	0.650000	0.86243	AGT	.		0.522	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859	
FRAS1	80144	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	79258865	79258865	+	Missense_Mutation	SNP	G	G	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:79258865G>C	ENST00000325942.6	+	20	2756	c.2316G>C	c.(2314-2316)ttG>ttC	p.L772F	FRAS1_ENST00000264895.6_Missense_Mutation_p.L772F	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	772					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ATGGGCCGTTGGAGTCTGACT	0.522																																					p.L772F		.											.	FRAS1-68	0			c.G2316C						.						190.0	198.0	195.0					4																	79258865		2079	4207	6286	SO:0001583	missense	80144	exon20			GCCGTTGGAGTCT	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.2316G>C	4.37:g.79258865G>C	ENSP00000326330:p.Leu772Phe	230	0		334	136	NM_001166133	0	0	0	0	0	A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000325942.6	37	CCDS54772.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.045|8.045	0.764648|0.764648	0.15914|0.15914	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000508900|ENST00000325942;ENST00000264895	.|T;T	.|0.30182	.|1.54;2.58	5.55|5.55	0.363|0.363	0.16118|0.16118	.|Growth factor, receptor (1);	.|0.373655	.|0.27253	.|N	.|0.020219	T|T	0.26268|0.26268	0.0641|0.0641	M|M	0.67700|0.67700	2.07|2.07	0.28590|0.28590	N|N	0.909717|0.909717	.|P;P;P	.|0.44429	.|0.604;0.835;0.604	.|B;B;B	.|0.43386	.|0.418;0.308;0.304	T|T	0.18461|0.18461	-1.0336|-1.0336	5|10	.|0.49607	.|T	.|0.09	.|.	0.3272|0.3272	0.00312|0.00312	0.3053:0.1343:0.2877:0.2726|0.3053:0.1343:0.2877:0.2726	.|.	.|772;772;772	.|E9PHH6;Q86XX4;A2RRR8	.|.;FRAS1_HUMAN;.	R|F	615|772	.|ENSP00000326330:L772F;ENSP00000264895:L772F	.|ENSP00000264895:L772F	G|L	+|+	1|3	0|2	FRAS1|FRAS1	79477889|79477889	0.002000|0.002000	0.14202|0.14202	0.029000|0.029000	0.17559|0.17559	0.013000|0.013000	0.08279|0.08279	-0.381000|-0.381000	0.07417|0.07417	0.236000|0.236000	0.21180|0.21180	0.655000|0.655000	0.94253|0.94253	GGA|TTG	.		0.522	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2		
BMP2K	55589	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	79832494	79832494	+	Silent	SNP	A	A	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:79832494A>T	ENST00000335016.5	+	16	2959	c.2793A>T	c.(2791-2793)gtA>gtT	p.V931V	PAQR3_ENST00000295462.3_Intron	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	931					regulation of bone mineralization (GO:0030500)	nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatase regulator activity (GO:0019208)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						GTGTAGATGTATTTGGCTCCA	0.458																																					p.V931V		.											.	BMP2K-383	0			c.A2793T						.						59.0	53.0	55.0					4																	79832494		1946	4131	6077	SO:0001819	synonymous_variant	55589	exon16			AGATGTATTTGGC	AB015331	CCDS34019.1, CCDS47083.1	4q21.21	2008-05-15			ENSG00000138756	ENSG00000138756			18041	protein-coding gene	gene with protein product							Standard	NM_017593		Approved	DKFZp434K0614, BIKe	uc003hlk.3	Q9NSY1	OTTHUMG00000160900	ENST00000335016.5:c.2793A>T	4.37:g.79832494A>T		536	1		565	211	NM_198892	0	0	10	20	10	O94791|Q4W5H2|Q8IYF2|Q8N2G7|Q8NHG9|Q9NTG8	Silent	SNP	ENST00000335016.5	37	CCDS47083.1	.	.	.	.	.	.	.	.	.	.	A	5.134	0.210409	0.09757	.	.	ENSG00000138756	ENST00000502613	.	.	.	5.3	-3.37	0.04898	.	.	.	.	.	T	0.38268	0.1034	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33828	-0.9853	4	.	.	.	-0.103	1.4061	0.02281	0.3012:0.2899:0.2641:0.1448	.	.	.	.	F	624	.	.	I	+	1	0	BMP2K	80051518	0.001000	0.12720	0.915000	0.36163	0.865000	0.49528	-1.779000	0.01777	-0.566000	0.06054	-0.425000	0.05940	ATT	.		0.458	BMP2K-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_017593	
SEC31A	22872	hgsc.bcm.edu	37	4	83785565	83785565	+	Frame_Shift_Del	DEL	T	T	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:83785565delT	ENST00000395310.2	-	11	1566	c.1384delA	c.(1384-1386)attfs	p.I462fs	SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000508479.1_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000355196.2_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000500777.2_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000432794.1_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000448323.1_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000509142.1_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000505984.1_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000505472.1_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000348405.4_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000264405.5_Frame_Shift_Del_p.I234fs|SEC31A_ENST00000326950.5_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000443462.2_Frame_Shift_Del_p.I457fs|SEC31A_ENST00000508502.1_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000311785.7_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000513858.1_Frame_Shift_Del_p.I462fs	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	462	Interaction with SEC13.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|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)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|response to calcium ion (GO:0051592)	COPII vesicle coat (GO:0030127)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|vesicle coat (GO:0030120)	calcium-dependent protein binding (GO:0048306)	p.I462fs*16(2)	SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				GAAGCATCAATTTTTTTTTGG	0.353																																					p.I462fs		.											.	SEC31A-268	2	Deletion - Frameshift(2)	lung(2)	c.1384delA						.						89.0	91.0	91.0					4																	83785565		2203	4300	6503	SO:0001589	frameshift_variant	22872	exon11			CATCAATTTTTTT	AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"""WD repeat domain containing"""	17052	protein-coding gene	gene with protein product		610257	"""SEC31-like 1 (S. cerevisiae)"", ""Sec31 homolog A (S. cerevisiae)"""	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.1384delA	4.37:g.83785565delT	ENSP00000378721:p.Ile462fs	76	0		74	25	NM_001077206	0	0	0	0	0	B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Frame_Shift_Del	DEL	ENST00000395310.2	37	CCDS3596.1																																																																																			.		0.353	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252640.1	NM_016211	
SEC31A	22872	bcgsc.ca	37	4	83795857	83795857	+	Missense_Mutation	SNP	A	A	T	rs539581495		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:83795857A>T	ENST00000395310.2	-	6	728	c.546T>A	c.(544-546)caT>caA	p.H182Q	SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000508479.1_Missense_Mutation_p.H182Q|SEC31A_ENST00000355196.2_Missense_Mutation_p.H182Q|SEC31A_ENST00000500777.2_Missense_Mutation_p.H182Q|SEC31A_ENST00000432794.1_Missense_Mutation_p.H182Q|SEC31A_ENST00000448323.1_Missense_Mutation_p.H182Q|SEC31A_ENST00000509142.1_Missense_Mutation_p.H182Q|SEC31A_ENST00000505984.1_Missense_Mutation_p.H182Q|SEC31A_ENST00000505472.1_Missense_Mutation_p.H182Q|SEC31A_ENST00000348405.4_Missense_Mutation_p.H182Q|SEC31A_ENST00000264405.5_5'Flank|SEC31A_ENST00000326950.5_Missense_Mutation_p.H182Q|SEC31A_ENST00000443462.2_Missense_Mutation_p.H177Q|SEC31A_ENST00000508502.1_Missense_Mutation_p.H182Q|SEC31A_ENST00000311785.7_Missense_Mutation_p.H182Q|SEC31A_ENST00000513858.1_Missense_Mutation_p.H182Q	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	182	Interaction with SEC13.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|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)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|response to calcium ion (GO:0051592)	COPII vesicle coat (GO:0030127)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|vesicle coat (GO:0030120)	calcium-dependent protein binding (GO:0048306)		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				ATGCTAAAATATGCTGAACTT	0.403																																					p.H182Q		.											.	SEC31A-268	0			c.T546A						.						115.0	119.0	118.0					4																	83795857		2203	4300	6503	SO:0001583	missense	22872	exon6			TAAAATATGCTGA	AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"""WD repeat domain containing"""	17052	protein-coding gene	gene with protein product		610257	"""SEC31-like 1 (S. cerevisiae)"", ""Sec31 homolog A (S. cerevisiae)"""	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.546T>A	4.37:g.83795857A>T	ENSP00000378721:p.His182Gln	52	0		40	10	NM_001077206	0	0	12	42	30	B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Missense_Mutation	SNP	ENST00000395310.2	37	CCDS3596.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.378412	0.82682	.	.	ENSG00000138674	ENST00000348405;ENST00000513858;ENST00000395310;ENST00000443462;ENST00000509142;ENST00000432794;ENST00000448323;ENST00000326950;ENST00000311785;ENST00000505472;ENST00000500777;ENST00000508502;ENST00000355196;ENST00000505984;ENST00000508479;ENST00000503058	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.38077	1.16;1.16;1.16;1.64;1.16;1.16;1.16;1.16;1.16;1.16;1.16;1.16;1.16;1.16;1.16;3.45	5.05	3.88	0.44766	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.097739	0.64402	D	0.000001	T	0.64800	0.2631	M	0.93197	3.39	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	0.999;0.999;0.993;0.999;0.999;0.957;1.0;1.0;0.985	D;D;P;D;D;D;D;D;P	0.85130	0.986;0.987;0.801;0.972;0.991;0.914;0.996;0.997;0.864	T	0.67795	-0.5578	10	0.72032	D	0.01	-12.5406	7.0032	0.24821	0.7423:0.0:0.2577:0.0	.	177;182;182;182;182;182;182;182;182	B4DIW6;B7ZL00;O94979-5;D6RHZ5;O94979-6;O94979-4;O94979-3;O94979-2;O94979	.;.;.;.;.;.;.;.;SC31A_HUMAN	Q	182;182;182;177;182;182;182;182;182;182;182;182;182;182;182;153	ENSP00000337602:H182Q;ENSP00000426886:H182Q;ENSP00000378721:H182Q;ENSP00000408027:H177Q;ENSP00000426569:H182Q;ENSP00000407944:H182Q;ENSP00000400926:H182Q;ENSP00000325087:H182Q;ENSP00000309070:H182Q;ENSP00000421633:H182Q;ENSP00000421464:H182Q;ENSP00000424635:H182Q;ENSP00000347329:H182Q;ENSP00000424451:H182Q;ENSP00000425999:H182Q;ENSP00000425056:H153Q	ENSP00000309070:H182Q	H	-	3	2	SEC31A	84014881	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	3.671000	0.54576	0.964000	0.38108	0.533000	0.62120	CAT	.		0.403	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252640.1	NM_016211	
HELQ	113510	bcgsc.ca	37	4	84362474	84362474	+	Missense_Mutation	SNP	C	C	T	rs142206532	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:84362474C>T	ENST00000295488.3	-	7	1808	c.1646G>A	c.(1645-1647)cGt>cAt	p.R549H	HELQ_ENST00000510985.1_Missense_Mutation_p.R482H	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	549					double-strand break repair via homologous recombination (GO:0000724)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						ATTAAGAAGACGTGAAAAAGT	0.328								Other identified genes with known or suspected DNA repair function					C|||	29	0.00579073	0.0204	0.0029	5008	,	,		20325	0.0		0.0	False		,,,				2504	0.0				p.R549H		.											.	HELQ-155	0			c.G1646A						.	C	HIS/ARG	75,4329	65.3+/-102.7	1,73,2128	68.0	66.0	66.0		1646	5.6	1.0	4	dbSNP_134	66	4,8594	3.0+/-9.4	0,4,4295	yes	missense	HELQ	NM_133636.2	29	1,77,6423	TT,TC,CC		0.0465,1.703,0.6076	probably-damaging	549/1102	84362474	79,12923	2202	4299	6501	SO:0001583	missense	113510	exon7			AGAAGACGTGAAA	AF436845	CCDS3603.1, CCDS75158.1	4q21.23	2009-02-26			ENSG00000163312	ENSG00000163312			18536	protein-coding gene	gene with protein product		606769				11751861	Standard	XM_005262711		Approved	Hel308	uc003hom.3	Q8TDG4	OTTHUMG00000130423	ENST00000295488.3:c.1646G>A	4.37:g.84362474C>T	ENSP00000295488:p.Arg549His	175	4		201	79	NM_133636	0	0	3	9	6	Q05DF9|Q502W9|Q659B8|Q6ZQX4|Q6ZTS4|Q96EX7	Missense_Mutation	SNP	ENST00000295488.3	37	CCDS3603.1	7	0.003205128205128205	7	0.014227642276422764	0	0.0	0	0.0	0	0.0	C	17.16	3.318774	0.60524	0.01703	4.65E-4	ENSG00000163312	ENST00000295488;ENST00000510985	T;T	0.71103	-0.54;-0.27	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.79488	0.4454	M	0.88979	2.995	0.80722	D	1	B;D	0.89917	0.071;1.0	B;D	0.78314	0.014;0.991	D	0.85115	0.0965	10	0.62326	D	0.03	-17.841	19.961	0.97250	0.0:1.0:0.0:0.0	.	482;549	E3W980;Q8TDG4	.;HELQ_HUMAN	H	549;482	ENSP00000295488:R549H;ENSP00000424539:R482H	ENSP00000295488:R549H	R	-	2	0	HELQ	84581498	1.000000	0.71417	0.996000	0.52242	0.789000	0.44602	3.485000	0.53208	2.783000	0.95769	0.655000	0.94253	CGT	C|0.994;T|0.006		0.328	HELQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252810.1	NM_133636	
PTPN13	5783	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	87643506	87643506	+	Silent	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:87643506C>T	ENST00000411767.2	+	10	1590	c.1527C>T	c.(1525-1527)atC>atT	p.I509I	PTPN13_ENST00000427191.2_Silent_p.I509I|PTPN13_ENST00000316707.6_Silent_p.I509I|PTPN13_ENST00000511467.1_Silent_p.I509I|PTPN13_ENST00000436978.1_Silent_p.I509I			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	509					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		GAGACACAATCAAAGCGTCCA	0.453																																					p.I509I		.											.	PTPN13-230	0			c.C1527T						.						151.0	141.0	144.0					4																	87643506		1933	4142	6075	SO:0001819	synonymous_variant	5783	exon10			CACAATCAAAGCG		CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.1527C>T	4.37:g.87643506C>T		368	0		494	214	NM_006264	0	0	1	5	4	B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Silent	SNP	ENST00000411767.2	37	CCDS47094.1																																																																																			.		0.453	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1		
PTPN13	5783	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	87643549	87643549	+	Missense_Mutation	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:87643549A>G	ENST00000411767.2	+	10	1633	c.1570A>G	c.(1570-1572)Att>Gtt	p.I524V	PTPN13_ENST00000427191.2_Missense_Mutation_p.I524V|PTPN13_ENST00000316707.6_Missense_Mutation_p.I524V|PTPN13_ENST00000511467.1_Missense_Mutation_p.I524V|PTPN13_ENST00000436978.1_Missense_Mutation_p.I524V			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	524					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		GTTAAGAGAAATTGCCCTAGA	0.458																																					p.I524V		.											.	PTPN13-230	0			c.A1570G						.						130.0	123.0	125.0					4																	87643549		1901	4130	6031	SO:0001583	missense	5783	exon10			AGAGAAATTGCCC		CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.1570A>G	4.37:g.87643549A>G	ENSP00000407249:p.Ile524Val	339	0		446	172	NM_006264	0	0	2	3	1	B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	ENST00000411767.2	37	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	A	11.86	1.764456	0.31228	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61	4.92	4.92	0.64577	.	0.629942	0.14653	N	0.306491	T	0.30070	0.0753	L	0.43152	1.355	0.31126	N	0.708245	B;B;B;B	0.21071	0.001;0.051;0.01;0.023	B;B;B;B	0.26416	0.005;0.069;0.013;0.069	T	0.20273	-1.0280	10	0.28530	T	0.3	.	14.8547	0.70326	1.0:0.0:0.0:0.0	.	524;524;524;524	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	V	524;524;524;524;524;492	ENSP00000408368:I524V;ENSP00000394794:I524V;ENSP00000322675:I524V;ENSP00000407249:I524V;ENSP00000426626:I524V	ENSP00000322675:I524V	I	+	1	0	PTPN13	87862573	1.000000	0.71417	0.996000	0.52242	0.746000	0.42486	5.022000	0.64078	1.979000	0.57680	0.533000	0.62120	ATT	.		0.458	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1		
DSPP	1834	broad.mit.edu;ucsc.edu	37	4	88537441	88537441	+	Silent	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:88537441C>T	ENST00000282478.7	+	4	3660	c.3627C>T	c.(3625-3627)gaC>gaT	p.D1209D	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Silent_p.D1209D			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1209	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		atagcagtgacagcagtgaca	0.552																																					p.D1209D		.											.	DSPP-90	0			c.C3627T						.						45.0	65.0	58.0					4																	88537441		1601	2919	4520	SO:0001819	synonymous_variant	1834	exon5			CAGTGACAGCAGT	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.3627C>T	4.37:g.88537441C>T		687	2		920	130	NM_014208	0	0	0	0	0	A8MUI0|O95815	Silent	SNP	ENST00000282478.7	37	CCDS43248.1																																																																																			.		0.552	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208	
PKD2	5311	bcgsc.ca	37	4	88986559	88986559	+	Frame_Shift_Del	DEL	A	A	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:88986559delA	ENST00000508588.1	+	6	801	c.406delA	c.(406-408)aaafs	p.K137fs	PKD2_ENST00000511337.1_3'UTR|PKD2_ENST00000502363.1_Frame_Shift_Del_p.K137fs|PKD2_ENST00000237596.2_Frame_Shift_Del_p.K719fs			Q9BZL6	KPCD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	389					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|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 fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		ACTAAAACTGAAAAAAAATAC	0.383																																					p.K718fs		.											.	PKD2-91	0			c.2152delA						.						102.0	109.0	106.0					4																	88986559		2203	4300	6503	SO:0001589	frameshift_variant	5311	exon11			AAACTGAAAAAAA	U50928	CCDS3627.1	4q22.1	2014-01-28			ENSG00000118762	ENSG00000118762		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""EF-hand domain containing"""	9009	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 2"""	173910				8298643	Standard	NM_000297		Approved	PKD4, PC2, Pc-2, TRPP2	uc003hre.3	Q13563	OTTHUMG00000160982	ENST00000508588.1:c.406delA	4.37:g.88986559delA	ENSP00000427131:p.Lys137fs	200	4		262	116	NM_000297	0	0	0	0	0	Q8TB08|Q9P0T6|Q9Y3X8	Frame_Shift_Del	DEL	ENST00000508588.1	37																																																																																				.		0.383	PKD2-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000363253.2	NM_000297	
FAM13A	10144	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	89679992	89679992	+	Nonsense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:89679992G>A	ENST00000264344.5	-	14	1846	c.1639C>T	c.(1639-1641)Caa>Taa	p.Q547*	FAM13A_ENST00000511976.1_Nonsense_Mutation_p.Q133*|FAM13A_ENST00000503556.1_Nonsense_Mutation_p.Q207*|FAM13A_ENST00000395002.2_Nonsense_Mutation_p.Q221*|FAM13A_ENST00000513837.1_Nonsense_Mutation_p.Q193*|FAM13A_ENST00000508369.1_Nonsense_Mutation_p.Q221*	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	547					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						CCGGCATCTTGATTTCTCTGC	0.507																																					p.Q547X		.											.	FAM13A-70	0			c.C1639T						.						120.0	111.0	114.0					4																	89679992		2203	4300	6503	SO:0001587	stop_gained	10144	exon14			CATCTTGATTTCT	AB020721	CCDS34029.1, CCDS43251.1, CCDS58911.1, CCDS58912.1, CCDS58913.1	4q22.1	2011-09-07	2009-01-20	2009-01-20	ENSG00000138640	ENSG00000138640		"""Rho GTPase activating proteins"""	19367	protein-coding gene	gene with protein product		613299	"""family with sequence similarity 13, member A1"""	FAM13A1			Standard	NM_014883		Approved	KIAA0914, ARHGAP48	uc003hse.2	O94988	OTTHUMG00000161006	ENST00000264344.5:c.1639C>T	4.37:g.89679992G>A	ENSP00000264344:p.Gln547*	93	0		146	58	NM_014883	0	0	4	4	0	B4DLC1|Q24JP0|Q5PR21|Q8NBA3	Nonsense_Mutation	SNP	ENST00000264344.5	37	CCDS34029.1	.	.	.	.	.	.	.	.	.	.	G	36	5.670177	0.96754	.	.	ENSG00000138640	ENST00000395002;ENST00000264344;ENST00000503556;ENST00000511976;ENST00000508369;ENST00000513837	.	.	.	5.37	4.51	0.55191	.	0.472673	0.24856	N	0.035043	.	.	.	.	.	.	0.34509	D	0.706891	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	16.0893	0.81082	0.0:0.134:0.866:0.0	.	.	.	.	X	221;547;207;133;221;193	.	ENSP00000264344:Q547X	Q	-	1	0	FAM13A	89899015	1.000000	0.71417	0.016000	0.15963	0.933000	0.57130	3.933000	0.56545	1.456000	0.47831	0.650000	0.86243	CAA	.		0.507	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363371.1		
GRID2	2895	ucsc.edu;bcgsc.ca	37	4	94436526	94436526	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:94436526G>A	ENST00000282020.4	+	13	2415	c.2157G>A	c.(2155-2157)gaG>gaA	p.E719E	GRID2_ENST00000510992.1_Silent_p.E624E	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	719					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		ATGGATCGGAGAACAATGTTC	0.473																																					p.E719E		.											.	GRID2-159	0			c.G2157A						.						129.0	110.0	116.0					4																	94436526		2203	4300	6503	SO:0001819	synonymous_variant	2895	exon13			ATCGGAGAACAAT	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.2157G>A	4.37:g.94436526G>A		177	3		192	73	NM_001510	0	0	0	0	0	E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Silent	SNP	ENST00000282020.4	37	CCDS3637.1																																																																																			.		0.473	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2		
GRID2	2895	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	94547465	94547465	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:94547465G>A	ENST00000282020.4	+	14	2497	c.2239G>A	c.(2239-2241)Gaa>Aaa	p.E747K	GRID2_ENST00000510992.1_Missense_Mutation_p.E652K	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	747					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		AGCTGTATTGGAATATGTGGC	0.353																																					p.E747K		.											.	GRID2-159	0			c.G2239A						.						182.0	163.0	170.0					4																	94547465		2203	4300	6503	SO:0001583	missense	2895	exon14			GTATTGGAATATG	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.2239G>A	4.37:g.94547465G>A	ENSP00000282020:p.Glu747Lys	93	0		119	50	NM_001510	0	0	0	0	0	E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	37	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	G	33	5.216721	0.95104	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	T;T	0.25912	1.77;1.77	5.13	5.13	0.70059	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.50205	0.1602	M	0.66439	2.03	0.80722	D	1	D;D	0.56287	0.975;0.975	D;D	0.65233	0.933;0.933	T	0.52132	-0.8616	10	0.87932	D	0	.	18.9243	0.92538	0.0:0.0:1.0:0.0	.	652;747	E9PH24;O43424	.;GRID2_HUMAN	K	747;652	ENSP00000282020:E747K;ENSP00000421257:E652K	ENSP00000282020:E747K	E	+	1	0	GRID2	94766488	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.195000	0.94971	2.542000	0.85734	0.484000	0.47621	GAA	.		0.353	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2		
PDLIM5	10611	ucsc.edu;bcgsc.ca	37	4	95496845	95496845	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:95496845G>A	ENST00000317968.4	+	5	506	c.370G>A	c.(370-372)Gcc>Acc	p.A124T	PDLIM5_ENST00000514743.1_Intron|PDLIM5_ENST00000538141.1_Intron|PDLIM5_ENST00000542407.1_Missense_Mutation_p.A2T|PDLIM5_ENST00000437932.1_Intron|PDLIM5_ENST00000508216.1_Intron|PDLIM5_ENST00000450793.1_Intron|PDLIM5_ENST00000380180.3_Intron|PDLIM5_ENST00000318007.5_Intron	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5	124					regulation of dendritic spine morphogenesis (GO:0061001)|regulation of synapse assembly (GO:0051963)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|actinin binding (GO:0042805)|protein kinase C binding (GO:0005080)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		AAACAACATGGCCTACAATAA	0.463																																					p.A124T		.											.	PDLIM5-117	0			c.G370A						.						228.0	203.0	211.0					4																	95496845		2203	4300	6503	SO:0001583	missense	10611	exon5			AACATGGCCTACA	AF061258	CCDS3641.1, CCDS47103.1, CCDS47104.1, CCDS58915.1, CCDS58916.1, CCDS58917.1, CCDS75166.1	4q22	2006-04-12			ENSG00000163110	ENSG00000163110			17468	protein-coding gene	gene with protein product		605904				15346770	Standard	NM_006457		Approved	LIM, Enh	uc003htk.4	Q96HC4	OTTHUMG00000130973	ENST00000317968.4:c.370G>A	4.37:g.95496845G>A	ENSP00000321746:p.Ala124Thr	291	4		303	123	NM_006457	0	0	6	7	1	A8K6F9|D6RB78|E9PBF5|O60705|Q56VN4|Q5UW38|Q8WVK0	Missense_Mutation	SNP	ENST00000317968.4	37	CCDS3641.1	.	.	.	.	.	.	.	.	.	.	G	14.17	2.456482	0.43634	.	.	ENSG00000163110	ENST00000317968;ENST00000542407	T;T	0.62788	0.62;-0.0	5.25	1.63	0.23807	.	0.496524	0.22104	N	0.064568	T	0.53948	0.1828	M	0.65975	2.015	0.45806	D	0.998683	B	0.10296	0.003	B	0.08055	0.003	T	0.41893	-0.9483	10	0.14656	T	0.56	.	9.9923	0.41879	0.2748:0.0:0.7252:0.0	.	124	Q96HC4	PDLI5_HUMAN	T	124;2	ENSP00000321746:A124T;ENSP00000442187:A2T	ENSP00000321746:A124T	A	+	1	0	PDLIM5	95715868	1.000000	0.71417	0.997000	0.53966	0.981000	0.71138	4.595000	0.61048	0.049000	0.15920	-0.140000	0.14226	GCC	.		0.463	PDLIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253586.1		
ADH7	131	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	100349715	100349715	+	Missense_Mutation	SNP	T	T	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:100349715T>A	ENST00000209665.4	-	3	469	c.229A>T	c.(229-231)Att>Ttt	p.I77F	ADH7_ENST00000476959.1_Missense_Mutation_p.I85F|ADH7_ENST00000482593.1_Missense_Mutation_p.I8F|ADH7_ENST00000437033.2_Missense_Mutation_p.I65F	NM_000673.4	NP_000664.2	P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	77					ethanol catabolic process (GO:0006068)|ethanol oxidation (GO:0006069)|extracellular negative regulation of signal transduction (GO:1900116)|fatty acid omega-oxidation (GO:0010430)|oxidation-reduction process (GO:0055114)|response to bacterium (GO:0009617)|response to ethanol (GO:0045471)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular region (GO:0005576)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|aldehyde oxidase activity (GO:0004031)|ethanol binding (GO:0035276)|receptor antagonist activity (GO:0048019)|retinol binding (GO:0019841)|retinol dehydrogenase activity (GO:0004745)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)		TGTCCCACAATCACTGGAAAC	0.433																																					p.I85F		.											.	ADH7-227	0			c.A253T						.						264.0	216.0	232.0					4																	100349715		2203	4300	6503	SO:0001583	missense	131	exon3			CCACAATCACTGG	X76342	CCDS34034.1, CCDS54781.1	4q23-q24	2008-02-05			ENSG00000196344	ENSG00000196344	1.1.1.1	"""Alcohol dehydrogenases"""	256	protein-coding gene	gene with protein product		600086				8195208	Standard	NM_000673		Approved	ADH-4	uc021xqj.1	P40394	OTTHUMG00000159318	ENST00000209665.4:c.229A>T	4.37:g.100349715T>A	ENSP00000209665:p.Ile77Phe	96	0		132	51	NM_001166504	0	0	0	0	0	A2RRB6|A8MVN9|B2R760|B4DWV6|Q13713	Missense_Mutation	SNP	ENST00000209665.4	37	CCDS34034.1	.	.	.	.	.	.	.	.	.	.	T	16.04	3.009327	0.54361	.	.	ENSG00000196344	ENST00000437033;ENST00000209665;ENST00000482593;ENST00000476959;ENST00000474027	T;T;T;T;T	0.04603	3.59;3.59;3.59;3.59;3.59	4.13	2.91	0.33838	GroES-like (1);Alcohol dehydrogenase GroES-like (1);	0.116516	0.64402	D	0.000019	T	0.26593	0.0650	H	0.95850	3.73	0.45427	D	0.998409	D	0.63046	0.992	D	0.65684	0.937	T	0.04128	-1.0975	10	0.87932	D	0	-20.3212	8.0114	0.30355	0.0:0.1711:0.0:0.8289	.	77	P40394	ADH7_HUMAN	F	65;77;8;85;8	ENSP00000414254:I65F;ENSP00000209665:I77F;ENSP00000420613:I8F;ENSP00000420269:I85F;ENSP00000420300:I8F	ENSP00000209665:I77F	I	-	1	0	ADH7	100568738	0.173000	0.23056	0.003000	0.11579	0.955000	0.61496	0.895000	0.28363	0.617000	0.30160	0.533000	0.62120	ATT	.		0.433	ADH7-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_000673	
CENPE	1062	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	4	104066472	104066472	+	Missense_Mutation	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:104066472T>C	ENST00000265148.3	-	32	4681	c.4592A>G	c.(4591-4593)aAa>aGa	p.K1531R	CENPE_ENST00000380026.3_Missense_Mutation_p.K1506R	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1531					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TTGTTCCTCTTTCTCATAAAT	0.299																																					p.K1531R		.											.	CENPE-277	0			c.A4592G						.						37.0	37.0	37.0					4																	104066472		2202	4297	6499	SO:0001583	missense	1062	exon32			TCCTCTTTCTCAT	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.4592A>G	4.37:g.104066472T>C	ENSP00000265148:p.Lys1531Arg	9	0		12	5	NM_001813	0	0	3	3	0	A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	37	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	T	8.714	0.912828	0.17907	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026	T;T	0.77620	-1.11;-0.92	4.44	4.44	0.53790	.	.	.	.	.	T	0.81456	0.4826	L	0.52573	1.65	0.09310	N	1	D;D	0.71674	0.998;0.991	D;P	0.78314	0.991;0.777	T	0.68481	-0.5397	9	0.20519	T	0.43	.	7.3141	0.26491	0.1954:0.0:0.0:0.8046	.	1506;1531	Q02224-3;Q02224	.;CENPE_HUMAN	R	1531;1531;1506	ENSP00000265148:K1531R;ENSP00000369365:K1506R	ENSP00000265148:K1531R	K	-	2	0	CENPE	104285921	0.343000	0.24818	0.186000	0.23195	0.055000	0.15305	1.359000	0.34113	1.859000	0.53934	0.448000	0.29417	AAA	.		0.299	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
TET2	54790	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	106196337	106196337	+	Missense_Mutation	SNP	T	T	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:106196337T>A	ENST00000540549.1	+	11	5530	c.4670T>A	c.(4669-4671)gTc>gAc	p.V1557D	TET2_ENST00000513237.1_Missense_Mutation_p.V1578D|TET2_ENST00000380013.4_Missense_Mutation_p.V1557D|TET2_ENST00000545826.1_3'UTR			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	1557					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		ACAGAGTCTGTCAACTCTTAT	0.532			"""Mis N, F"""		MDS																																p.V1557D		.		Rec	yes		4	4q24	54790	tet oncogene family member 2		L	.	TET2-4618	0			c.T4670A						.						138.0	120.0	125.0					4																	106196337		692	1591	2283	SO:0001583	missense	54790	exon11			AGTCTGTCAACTC	AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"""KIAA1546"", ""tet oncogene family member 2"""	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.4670T>A	4.37:g.106196337T>A	ENSP00000442788:p.Val1557Asp	124	0		178	78	NM_001127208	0	0	1	2	1	B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Missense_Mutation	SNP	ENST00000540549.1	37	CCDS47120.1	.	.	.	.	.	.	.	.	.	.	T	10.88	1.476562	0.26511	.	.	ENSG00000168769	ENST00000540549;ENST00000513237;ENST00000380013	T;T;T	0.23348	1.91;1.91;1.91	5.44	1.73	0.24493	Methylcytosine dioxygenase TET, double-stranded beta helix fold domain (1);	.	.	.	.	T	0.32224	0.0822	M	0.63843	1.955	0.09310	N	1	P;P	0.42161	0.772;0.772	P;P	0.46629	0.522;0.522	T	0.14364	-1.0475	9	0.72032	D	0.01	-0.2342	8.3096	0.32062	0.0:0.239:0.0:0.761	.	1578;1557	E7EQS8;Q6N021	.;TET2_HUMAN	D	1557;1578;1557	ENSP00000442788:V1557D;ENSP00000425443:V1578D;ENSP00000369351:V1557D	ENSP00000369351:V1557D	V	+	2	0	TET2	106415786	0.001000	0.12720	0.000000	0.03702	0.155000	0.21991	1.088000	0.30877	0.064000	0.16427	0.482000	0.46254	GTC	.		0.532	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2	NM_017628	
SEC24B	10427	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	110460806	110460806	+	Missense_Mutation	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:110460806A>G	ENST00000265175.5	+	24	3837	c.3782A>G	c.(3781-3783)cAt>cGt	p.H1261R	SEC24B_ENST00000399100.2_Missense_Mutation_p.H1226R|SEC24B_ENST00000504968.2_Missense_Mutation_p.H1291R	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	1261					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)		TTTTTGCTTCATGTTCAGCAG	0.368																																					p.H1261R		.											.	SEC24B-137	0			c.A3782G						.						83.0	73.0	76.0					4																	110460806		1807	4077	5884	SO:0001583	missense	10427	exon24			TGCTTCATGTTCA	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.3782A>G	4.37:g.110460806A>G	ENSP00000265175:p.His1261Arg	40	0		42	20	NM_006323	0	0	36	65	29	B7ZKM8|B7ZKN4|Q0VG08	Missense_Mutation	SNP	ENST00000265175.5	37	CCDS47124.1	.	.	.	.	.	.	.	.	.	.	A	17.51	3.407360	0.62399	.	.	ENSG00000138802	ENST00000504968;ENST00000399100;ENST00000265175	T;T;T	0.31510	1.49;1.49;1.49	5.31	5.31	0.75309	.	0.145667	0.64402	D	0.000009	T	0.45135	0.1327	M	0.84082	2.675	0.80722	D	1	B;B;B;B;B	0.32876	0.229;0.062;0.388;0.339;0.229	B;B;B;B;B	0.39068	0.15;0.064;0.197;0.289;0.15	T	0.51505	-0.8697	10	0.72032	D	0.01	-24.3318	15.441	0.75181	1.0:0.0:0.0:0.0	.	1175;860;1291;1226;1261	B4DTM6;B4E2E1;B7ZKM8;O95487-2;O95487	.;.;.;.;SC24B_HUMAN	R	1291;1226;1261	ENSP00000428564:H1291R;ENSP00000382051:H1226R;ENSP00000265175:H1261R	ENSP00000265175:H1261R	H	+	2	0	SEC24B	110680255	1.000000	0.71417	0.934000	0.37439	0.988000	0.76386	9.028000	0.93712	2.243000	0.73865	0.482000	0.46254	CAT	.		0.368	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364693.2		
PITX2	5308	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	111539802	111539802	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:111539802G>A	ENST00000354925.2	-	7	2138	c.433C>T	c.(433-435)Cgc>Tgc	p.R145C	PITX2_ENST00000394595.3_Missense_Mutation_p.A76V|PITX2_ENST00000556049.1_5'UTR|PITX2_ENST00000394598.2_Missense_Mutation_p.R145C|PITX2_ENST00000306732.3_Missense_Mutation_p.R152C|PITX2_ENST00000355080.5_Missense_Mutation_p.R99C	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN	paired-like homeodomain 2	145					atrial cardiac muscle tissue morphogenesis (GO:0055009)|atrioventricular valve development (GO:0003171)|camera-type eye development (GO:0043010)|cardiac neural crest cell migration involved in outflow tract morphogenesis (GO:0003253)|cell proliferation involved in outflow tract morphogenesis (GO:0061325)|deltoid tuberosity development (GO:0035993)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic hindlimb morphogenesis (GO:0035116)|endodermal digestive tract morphogenesis (GO:0061031)|extraocular skeletal muscle development (GO:0002074)|female gonad development (GO:0008585)|hair cell differentiation (GO:0035315)|hypothalamus cell migration (GO:0021855)|in utero embryonic development (GO:0001701)|iris morphogenesis (GO:0061072)|left lung morphogenesis (GO:0060460)|left/right axis specification (GO:0070986)|male gonad development (GO:0008584)|myoblast fusion (GO:0007520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|odontogenesis (GO:0042476)|odontogenesis of dentin-containing tooth (GO:0042475)|patterning of blood vessels (GO:0001569)|positive regulation of DNA binding (GO:0043388)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prolactin secreting cell differentiation (GO:0060127)|pulmonary myocardium development (GO:0003350)|pulmonary vein morphogenesis (GO:0060577)|regulation of cell migration (GO:0030334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|response to vitamin A (GO:0033189)|somatotropin secreting cell differentiation (GO:0060126)|spleen development (GO:0048536)|subthalamic nucleus development (GO:0021763)|superior vena cava morphogenesis (GO:0060578)|vascular smooth muscle cell differentiation (GO:0035886)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)|ribonucleoprotein complex binding (GO:0043021)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		TGCTGGTTGCGCTCCCTCTTT	0.542																																					p.R152C		.											.	PITX2-650	0			c.C454T						.						82.0	81.0	81.0					4																	111539802		2203	4300	6503	SO:0001583	missense	5308	exon3			GGTTGCGCTCCCT	U69961	CCDS3692.1, CCDS3693.1, CCDS3694.1	4q25	2011-06-20	2007-07-12		ENSG00000164093	ENSG00000164093		"""Homeoboxes / PRD class"""	9005	protein-coding gene	gene with protein product		601542	"""paired-like homeodomain transcription factor 2"""	IRID2, IHG2, RIEG, RIEG1, RGS		9539779, 7581385	Standard	NM_000325		Approved	IGDS, RS, Brx1, Otlx2, ARP1	uc021xqr.1	Q99697	OTTHUMG00000132837	ENST00000354925.2:c.433C>T	4.37:g.111539802G>A	ENSP00000347004:p.Arg145Cys	115	0		138	64	NM_000325	0	0	0	0	0	A8K6C6|B2RA02|B3KXS0|O60578|O60579|O60580|Q3KQX9|Q9BY17	Missense_Mutation	SNP	ENST00000354925.2	37	CCDS3692.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.4|21.4	4.141404|4.141404	0.77775|0.77775	.|.	.|.	ENSG00000164093|ENSG00000164093	ENST00000394595|ENST00000306732;ENST00000394598;ENST00000355080;ENST00000354925;ENST00000511837;ENST00000556049;ENST00000511990	.|D;D;D;D;D;D;D	.|0.95980	.|-3.87;-3.87;-3.87;-3.87;-3.87;-3.87;-3.87	4.75|4.75	4.75|4.75	0.60458|0.60458	.|Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	.|0.092123	.|0.64402	.|D	.|0.000001	D|D	0.97651|0.97651	0.9230|0.9230	M|M	0.86740|0.86740	2.835|2.835	0.24406|0.24406	N|N	0.994687|0.994687	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.97110	.|0.991;0.988;1.0;0.996	D|D	0.92927|0.92927	0.6360|0.6360	6|10	0.66056|0.87932	D|D	0.02|0	.|.	12.657|12.657	0.56793|0.56793	0.0:0.0:0.7364:0.2636|0.0:0.0:0.7364:0.2636	.|.	.|99;99;145;152	.|A8K6C6;Q99697-3;Q99697;Q99697-2	.|.;.;PITX2_HUMAN;.	V|C	76|152;145;99;145;145;69;99	.|ENSP00000304169:R152C;ENSP00000378097:R145C;ENSP00000347192:R99C;ENSP00000347004:R145C;ENSP00000421454:R145C;ENSP00000450938:R69C;ENSP00000424142:R99C	ENSP00000378095:A76V|ENSP00000304169:R152C	A|R	-|-	2|1	0|0	PITX2|PITX2	111759251|111759251	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	2.311000|2.311000	0.43717|0.43717	2.625000|2.625000	0.88918|0.88918	0.563000|0.563000	0.77884|0.77884	GCG|CGC	.		0.542	PITX2-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256308.2		
ZGRF1	55345	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	113484389	113484389	+	Missense_Mutation	SNP	C	C	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:113484389C>G	ENST00000505019.1	-	17	4605	c.4480G>C	c.(4480-4482)Gat>Cat	p.D1494H		NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		1494						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		ATAAAAGTATCCAGCTCAAAG	0.338																																					p.D1494H		.											.	C4orf21-90	0			c.G4480C						.						58.0	61.0	60.0					4																	113484389		1763	3196	4959	SO:0001583	missense	55345	exon17			AAGTATCCAGCTC																												ENST00000505019.1:c.4480G>C	4.37:g.113484389C>G	ENSP00000424737:p.Asp1494His	122	0		153	67	NM_018392	0	0	1	1	0	B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Missense_Mutation	SNP	ENST00000505019.1	37		.	.	.	.	.	.	.	.	.	.	C	20.2	3.950924	0.73787	.	.	ENSG00000138658	ENST00000505019	T	0.33216	1.42	5.41	5.41	0.78517	.	0.000000	0.64402	D	0.000004	T	0.57431	0.2053	M	0.70595	2.14	0.80722	D	1	D	0.76494	0.999	D	0.72075	0.976	T	0.59621	-0.7420	10	0.87932	D	0	-13.195	19.5629	0.95380	0.0:1.0:0.0:0.0	.	1494	G5EA02	.	H	1494	ENSP00000424737:D1494H	ENSP00000404365:D392H	D	-	1	0	C4orf21	113703838	1.000000	0.71417	0.996000	0.52242	0.797000	0.45037	3.684000	0.54671	2.701000	0.92244	0.460000	0.39030	GAT	.		0.338	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1		
NDST3	9348	bcgsc.ca	37	4	118975230	118975230	+	Silent	SNP	C	C	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:118975230C>A	ENST00000296499.5	+	2	568	c.165C>A	c.(163-165)ctC>ctA	p.L55L	NDST3_ENST00000433996.2_Silent_p.L55L	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	55	Heparan sulfate N-deacetylase 3.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						GTGGCGACCTCCAACACCTAC	0.443																																					p.L55L		.											.	NDST3-153	0			c.C165A						.						115.0	113.0	114.0					4																	118975230		2203	4300	6503	SO:0001819	synonymous_variant	9348	exon2			CGACCTCCAACAC	AF074924	CCDS3708.1	4q26	2008-08-04			ENSG00000164100	ENSG00000164100		"""Sulfotransferases, membrane-bound"""	7682	protein-coding gene	gene with protein product		603950				9915799	Standard	NM_004784		Approved	HSST3	uc003ibx.3	O95803	OTTHUMG00000132959	ENST00000296499.5:c.165C>A	4.37:g.118975230C>A		220	2		237	11	NM_004784	0	0	0	0	0	B4DI67|Q4W5C1|Q4W5D0|Q6UWC5|Q9UP21	Silent	SNP	ENST00000296499.5	37	CCDS3708.1																																																																																			.		0.443	NDST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256517.4	NM_004784	
PRDM5	11107	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	121616316	121616316	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:121616316C>T	ENST00000264808.3	-	16	2083	c.1843G>A	c.(1843-1845)Gac>Aac	p.D615N	PRDM5_ENST00000515109.1_3'UTR|PRDM5_ENST00000428209.2_Missense_Mutation_p.D584N|PRDM5_ENST00000506065.1_5'UTR	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	615					histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|mitotic cell cycle (GO:0000278)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TTGAGGTAGTCATTCCTTGTA	0.413																																					p.D615N		.											.	PRDM5-91	0			c.G1843A						.						150.0	145.0	147.0					4																	121616316		2203	4300	6503	SO:0001583	missense	11107	exon16			GGTAGTCATTCCT	AF272897	CCDS3716.1, CCDS75187.1, CCDS75188.1	4q25-q26	2013-01-08			ENSG00000138738	ENSG00000138738		"""Zinc fingers, C2H2-type"""	9349	protein-coding gene	gene with protein product		614161					Standard	XM_005262706		Approved	PFM2	uc003idn.3	Q9NQX1	OTTHUMG00000132970	ENST00000264808.3:c.1843G>A	4.37:g.121616316C>T	ENSP00000264808:p.Asp615Asn	94	0		57	39	NM_018699	0	0	0	0	0	Q0VAI9|Q0VAJ0|Q6NXQ7	Missense_Mutation	SNP	ENST00000264808.3	37	CCDS3716.1	.	.	.	.	.	.	.	.	.	.	C	35	5.422464	0.96111	.	.	ENSG00000138738	ENST00000264808;ENST00000428209	T;T	0.52754	0.65;0.65	5.62	5.62	0.85841	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.63367	0.2505	L	0.39898	1.24	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.997	T	0.64193	-0.6465	10	0.66056	D	0.02	-29.7161	19.6358	0.95733	0.0:1.0:0.0:0.0	.	584;615	Q9NQX1-2;Q9NQX1	.;PRDM5_HUMAN	N	615;584	ENSP00000264808:D615N;ENSP00000404832:D584N	ENSP00000264808:D615N	D	-	1	0	PRDM5	121835766	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.378000	0.79679	2.636000	0.89361	0.655000	0.94253	GAC	.		0.413	PRDM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256528.2		
FAT4	79633	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	126373258	126373258	+	Missense_Mutation	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:126373258A>G	ENST00000394329.3	+	9	11100	c.11087A>G	c.(11086-11088)aAc>aGc	p.N3696S	FAT4_ENST00000335110.5_Missense_Mutation_p.N1994S	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3696					branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GTCACGAGCAACATCCGAGTT	0.483																																					p.N3696S		.											.	FAT4-108	0			c.A11087G						.						175.0	165.0	168.0					4																	126373258		2203	4300	6503	SO:0001583	missense	79633	exon9			CGAGCAACATCCG	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.11087A>G	4.37:g.126373258A>G	ENSP00000377862:p.Asn3696Ser	160	0		99	81	NM_024582	0	0	0	0	0	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	A	3.795	-0.042899	0.07452	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.43688	0.94;0.94	5.77	-2.94	0.05581	.	0.193914	0.23791	U	0.044526	T	0.10637	0.0260	N	0.01352	-0.895	0.22171	N	0.99931	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.06405	0.002;0.001;0.002	T	0.32188	-0.9916	10	0.08599	T	0.76	.	6.8552	0.24036	0.3917:0.2317:0.3766:0.0	.	1994;3696;3696	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	S	3696;1994	ENSP00000377862:N3696S;ENSP00000335169:N1994S	ENSP00000335169:N1994S	N	+	2	0	FAT4	126592708	0.294000	0.24380	0.008000	0.14137	0.931000	0.56810	0.931000	0.28871	-0.729000	0.04875	0.459000	0.35465	AAC	.		0.483	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582	
PCDH10	57575	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	134071935	134071935	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:134071935G>A	ENST00000264360.5	+	1	1466	c.640G>A	c.(640-642)Gaa>Aaa	p.E214K	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	214	Cadherin 2. {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(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		aggagtaggagaaggaggggg	0.677																																					p.E214K		.											.	PCDH10-92	0			c.G640A						.						28.0	31.0	30.0					4																	134071935		2202	4297	6499	SO:0001583	missense	57575	exon1			GTAGGAGAAGGAG	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.640G>A	4.37:g.134071935G>A	ENSP00000264360:p.Glu214Lys	58	1		36	28	NM_032961	0	0	0	0	0	Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	G	11.74	1.728161	0.30593	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.52057	0.68	4.42	4.42	0.53409	Cadherin (3);Cadherin-like (1);	0.865962	0.09617	N	0.778135	T	0.24736	0.0600	N	0.08118	0	0.21416	N	0.999692	B;P	0.46952	0.003;0.887	B;B	0.32864	0.002;0.154	T	0.02477	-1.1153	10	0.32370	T	0.25	.	12.3906	0.55356	0.0:0.0:1.0:0.0	.	214;214	Q9P2E7;Q96SF0	PCD10_HUMAN;.	K	214	ENSP00000264360:E214K	ENSP00000264360:E214K	E	+	1	0	PCDH10	134291385	0.719000	0.27986	0.234000	0.24042	0.943000	0.58893	4.017000	0.57167	2.261000	0.74972	0.561000	0.74099	GAA	.		0.677	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961	
MAML3	55534	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	140811799	140811799	+	Missense_Mutation	SNP	T	T	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:140811799T>A	ENST00000509479.2	-	2	1647	c.791A>T	c.(790-792)gAt>gTt	p.D264V	MAML3_ENST00000398940.1_5'Flank|MAML3_ENST00000327122.5_Missense_Mutation_p.D108V	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					GGTGAAGCTATCCTCCAGGTC	0.448																																					p.D264V		.											.	MAML3-455	0			c.A791T						.						152.0	143.0	146.0					4																	140811799		1960	4148	6108	SO:0001583	missense	55534	exon2			AAGCTATCCTCCA	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.791A>T	4.37:g.140811799T>A	ENSP00000421180:p.Asp264Val	136	0		70	43	NM_018717	0	0	1	3	2		Missense_Mutation	SNP	ENST00000509479.2	37	CCDS54805.1	.	.	.	.	.	.	.	.	.	.	T	14.40	2.524515	0.44969	.	.	ENSG00000196782	ENST00000509479;ENST00000327122	T	0.37058	1.22	5.24	5.24	0.73138	.	0.055427	0.64402	D	0.000002	T	0.38852	0.1056	L	0.59436	1.845	0.80722	D	1	P	0.38250	0.624	B	0.37943	0.261	T	0.40117	-0.9580	10	0.87932	D	0	.	15.1648	0.72814	0.0:0.0:0.0:1.0	.	264	Q96JK9	MAML3_HUMAN	V	264;108	ENSP00000421180:D264V	ENSP00000313316:D108V	D	-	2	0	MAML3	141031249	1.000000	0.71417	0.844000	0.33320	0.798000	0.45092	7.495000	0.81514	1.962000	0.57031	0.477000	0.44152	GAT	.		0.448	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2		
HHIP	64399	broad.mit.edu	37	4	145629444	145629444	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:145629444G>A	ENST00000296575.3	+	7	1937	c.1282G>A	c.(1282-1284)Ggg>Agg	p.G428R		NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	428					carbohydrate metabolic process (GO:0005975)|dorsal/ventral pattern formation (GO:0009953)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|negative regulation of signal transduction (GO:0009968)|negative regulation of smoothened signaling pathway (GO:0045879)|neuroblast proliferation (GO:0007405)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|skeletal system morphogenesis (GO:0048705)|smoothened signaling pathway (GO:0007224)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	hedgehog family protein binding (GO:0097108)|oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		GTTTGCTCATGGGCTCCACGA	0.522																																					p.G428R		.											.	HHIP-283	0			c.G1282A						.						112.0	93.0	99.0					4																	145629444		2203	4300	6503	SO:0001583	missense	64399	exon7			GCTCATGGGCTCC	AK024645	CCDS3762.1	4q31.21-q31.3	2008-08-29	2001-11-29		ENSG00000164161	ENSG00000164161			14866	protein-coding gene	gene with protein product		606178	"""hedgehog-interacting protein"""			11435703, 11731473	Standard	NM_022475		Approved	HIP, FLJ20992	uc003ijs.2	Q96QV1	OTTHUMG00000161428	ENST00000296575.3:c.1282G>A	4.37:g.145629444G>A	ENSP00000296575:p.Gly428Arg	57	0		43	4	NM_022475	0	0	0	0	0	Q6PK09|Q8NCI7|Q9BXK3|Q9H1J4|Q9H7E7	Missense_Mutation	SNP	ENST00000296575.3	37	CCDS3762.1	.	.	.	.	.	.	.	.	.	.	G	34	5.293821	0.95546	.	.	ENSG00000164161	ENST00000296575	T	0.71222	-0.55	6.03	6.03	0.97812	Soluble quinoprotein glucose/sorbosone dehydrogenase (1);Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.89536	0.6743	H	0.94462	3.54	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91206	0.4995	10	0.87932	D	0	-16.5937	20.5752	0.99366	0.0:0.0:1.0:0.0	.	428	Q96QV1	HHIP_HUMAN	R	428	ENSP00000296575:G428R	ENSP00000296575:G428R	G	+	1	0	HHIP	145848894	1.000000	0.71417	0.985000	0.45067	0.947000	0.59692	9.476000	0.97823	2.868000	0.98415	0.557000	0.71058	GGG	.		0.522	HHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364887.2		
NR3C2	4306	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	149041326	149041326	+	Missense_Mutation	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:149041326A>G	ENST00000358102.3	-	7	2986	c.2624T>C	c.(2623-2625)tTg>tCg	p.L875S	NR3C2_ENST00000512865.1_Missense_Mutation_p.L758S|NR3C2_ENST00000511528.1_Missense_Mutation_p.L879S|NR3C2_ENST00000344721.4_Missense_Mutation_p.L875S|NR3C2_ENST00000355292.3_Missense_Mutation_p.L879S	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	875	Steroid-binding.				gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	TAGTAGCAGCAAAACTTTCAT	0.433																																					p.L875S	Melanoma(27;428 957 40335 51025 51111)	.											.	NR3C2-154	0			c.T2624C						.						147.0	132.0	137.0					4																	149041326		2203	4300	6503	SO:0001583	missense	4306	exon7			AGCAGCAAAACTT	M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"""Nuclear hormone receptors"""	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.2624T>C	4.37:g.149041326A>G	ENSP00000350815:p.Leu875Ser	115	0		56	41	NM_000901	0	0	0	0	0	B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Missense_Mutation	SNP	ENST00000358102.3	37	CCDS3772.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.024283	0.75390	.	.	ENSG00000151623	ENST00000344721;ENST00000355292;ENST00000358102;ENST00000512865;ENST00000511528	D;D;D;D;D	0.97404	-4.37;-4.37;-4.37;-4.37;-4.37	5.53	5.53	0.82687	.	0.000000	0.64402	D	0.000001	D	0.98321	0.9443	M	0.80982	2.52	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98925	1.0785	9	.	.	.	.	15.6453	0.77042	1.0:0.0:0.0:0.0	.	758;875	B0ZBF5;B0ZBF6	.;.	S	875;879;875;758;879	ENSP00000341390:L875S;ENSP00000347441:L879S;ENSP00000350815:L875S;ENSP00000423510:L758S;ENSP00000421481:L879S	.	L	-	2	0	NR3C2	149260776	1.000000	0.71417	0.922000	0.36590	0.791000	0.44710	9.300000	0.96151	2.102000	0.63906	0.454000	0.30748	TTG	.		0.433	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364986.1		
DCLK2	166614	hgsc.bcm.edu;bcgsc.ca	37	4	151000382	151000384	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	AGA	AGA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:151000382_151000384delAGA	ENST00000296550.7	+	1	957_959	c.203_205delAGA	c.(202-207)gagaag>gag	p.K70del	DCLK2_ENST00000302176.8_In_Frame_Del_p.K70del|DCLK2_ENST00000506325.1_In_Frame_Del_p.K70del	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	70					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					CTCAGCTCGGAGAAGAAGGCCAA	0.66																																					p.68_69del	GBM(195;186 2215 13375 16801 37459)	.											.	DCLK2-300	0			c.203_205del						.																																			SO:0001651	inframe_deletion	166614	exon1			GCTCGGAGAAGAA	BC032726	CCDS34076.1, CCDS47142.1, CCDS47142.2	4q31.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000170390	ENSG00000170390			19002	protein-coding gene	gene with protein product		613166	"""doublecortin and CaM kinase-like 2"""	DCAMKL2		12477932	Standard	NM_001040260		Approved	MGC45428, DCDC3, DCDC3B, DCK2	uc003ilo.4	Q8N568	OTTHUMG00000161444	ENST00000296550.7:c.203_205delAGA	4.37:g.151000385_151000387delAGA	ENSP00000296550:p.Lys70del	335	1		279	209	NM_001040260	0	0	0	0	0	C9J5Q9|Q59GC8|Q8N399	In_Frame_Del	DEL	ENST00000296550.7	37	CCDS34076.1																																																																																			.		0.660	DCLK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364952.1	NM_001040260	
GATB	5188	broad.mit.edu	37	4	152638110	152638110	+	Silent	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:152638110C>T	ENST00000515812.1	-	4	574	c.558G>A	c.(556-558)aaG>aaA	p.K186K	PET112_ENST00000512306.1_Silent_p.K186K|PET112_ENST00000263985.6_Silent_p.K186K																breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	23						ACTGGATCTGCTTGATCCTCA	0.527																																					p.K186K		.											.	PET112-90	0			c.G558A						.						218.0	189.0	199.0					4																	152638110		2203	4300	6503	SO:0001819	synonymous_variant	5188	exon4			GATCTGCTTGATC																												ENST00000515812.1:c.558G>A	4.37:g.152638110C>T		126	0		93	4	NM_004564	0	0	25	25	0		Silent	SNP	ENST00000515812.1	37																																																																																				.		0.527	PET112-002	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000365672.1		
TLR2	7097	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	4	154624389	154624392	+	Frame_Shift_Del	DEL	TTAC	TTAC	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	TTAC	TTAC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:154624389_154624392delTTAC	ENST00000260010.6	+	1	1738_1741	c.330_333delTTAC	c.(328-333)aattacfs	p.NY110fs		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	110					apoptotic process (GO:0006915)|cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to peptidoglycan (GO:0071224)|cellular response to triacyl bacterial lipopeptide (GO:0071727)|central nervous system myelin formation (GO:0032289)|chloramphenicol transport (GO:0042892)|defense response to Gram-positive bacterium (GO:0050830)|detection of diacyl bacterial lipopeptide (GO:0042496)|detection of triacyl bacterial lipopeptide (GO:0042495)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|induction by symbiont of defense-related host nitric oxide production (GO:0052063)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukotriene metabolic process (GO:0006691)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-17 production (GO:0032700)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of Wnt signaling pathway (GO:0030177)|response to fatty acid (GO:0070542)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to molecule of fungal origin (GO:0002238)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|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)	cell body (GO:0044297)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopolysaccharide receptor activity (GO:0001875)|lipoteichoic acid binding (GO:0070891)|peptidoglycan binding (GO:0042834)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)|triacyl lipopeptide binding (GO:0042497)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)			OspA lipoprotein(DB00045)	TATCCTATAATTACTTATCTAATT	0.382																																					p.110_111del		.											.	TLR2-523	0			c.330_333del						.																																			SO:0001589	frameshift_variant	7097	exon3			CTATAATTACTTA	U88878	CCDS3784.1	4q32	2008-02-05				ENSG00000137462		"""CD molecules"""	11848	protein-coding gene	gene with protein product		603028				9435236	Standard	XM_005263193		Approved	TIL4, CD282	uc003inq.3	O60603		ENST00000260010.6:c.330_333delTTAC	4.37:g.154624389_154624392delTTAC	ENSP00000260010:p.Asn110fs	73	0		50	33	NM_003264	0	0	0	0	0	B3Y612|D1CS45|D1CS48|D1CS49|O15454|Q8NI00	Frame_Shift_Del	DEL	ENST00000260010.6	37	CCDS3784.1																																																																																			.		0.382	TLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365205.1		
GUCY1A3	2982	broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	156638325	156638325	+	Silent	SNP	C	C	T	rs112384014		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:156638325C>T	ENST00000296518.7	+	8	1796	c.1587C>T	c.(1585-1587)ggC>ggT	p.G529G	GUCY1A3_ENST00000506455.1_Silent_p.G529G|GUCY1A3_ENST00000511507.1_Silent_p.G529G|GUCY1A3_ENST00000393832.3_Silent_p.G271G|GUCY1A3_ENST00000511108.1_Silent_p.G529G|GUCY1A3_ENST00000513574.1_Silent_p.G529G|GUCY1A3_ENST00000455639.2_Silent_p.G529G			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	529	Guanylate cyclase. {ECO:0000255|PROSITE- ProRule:PRU00099}.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565)	guanylate cyclase complex, soluble (GO:0008074)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872)	p.G529G(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		AGACCATTGGCGATGCCTATT	0.413																																					p.G529G		.											.	GUCY1A3-93	1	Substitution - coding silent(1)	large_intestine(1)	c.C1587T						.						135.0	130.0	132.0					4																	156638325		2203	4300	6503	SO:0001819	synonymous_variant	2982	exon8			CATTGGCGATGCC		CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.1587C>T	4.37:g.156638325C>T		227	2		139	102	NM_001130687	0	0	5	6	1	D3DP19|D6RDW3|O43843|Q8TAH3	Silent	SNP	ENST00000296518.7	37	CCDS34085.1																																																																																			C|0.500;T|0.500		0.413	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365786.2		
FAM198B	51313	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	4	159092094	159092094	+	Missense_Mutation	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:159092094A>G	ENST00000296530.8	-	2	1055	c.434T>C	c.(433-435)tTg>tCg	p.L145S	FAM198B_ENST00000585682.1_Missense_Mutation_p.L145S|FAM198B_ENST00000592057.1_Missense_Mutation_p.L145S|FAM198B_ENST00000393807.5_Missense_Mutation_p.L145S|RP11-597D13.9_ENST00000509463.1_RNA|RP11-597D13.9_ENST00000503611.1_RNA|RP11-597D13.9_ENST00000514381.1_RNA|RP11-597D13.9_ENST00000505532.1_RNA|FAM198B_ENST00000589306.1_Intron	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	145						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						TGGTCCGACCAAAGCCTCCTG	0.612																																					p.L145S		.											.	FAM198B-90	0			c.T434C						.						63.0	62.0	62.0					4																	159092094		2203	4299	6502	SO:0001583	missense	51313	exon2			CCGACCAAAGCCT		CCDS3798.1, CCDS34087.1	4q32.1	2012-11-29	2009-10-19	2009-10-19	ENSG00000164125	ENSG00000164125			25312	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 18"""	C4orf18		12975309	Standard	NM_001031700		Approved	FLJ38155, DKFZp434L142	uc003ipr.4	Q6UWH4	OTTHUMG00000161537	ENST00000296530.8:c.434T>C	4.37:g.159092094A>G	ENSP00000296530:p.Leu145Ser	117	0		68	55	NM_016613	0	0	4	9	5	Q498Z3|Q6IAF9|Q6ZMF2|Q86XL0	Missense_Mutation	SNP	ENST00000296530.8	37	CCDS3798.1	.	.	.	.	.	.	.	.	.	.	A	8.679	0.904715	0.17760	.	.	ENSG00000164125	ENST00000337222;ENST00000296530;ENST00000393807;ENST00000417442	T;T	0.31769	1.48;1.48	4.96	-0.489	0.12052	.	0.595355	0.17296	N	0.179466	T	0.18299	0.0439	L	0.47716	1.5	0.09310	N	1	B;B;B	0.26081	0.138;0.141;0.114	B;B;B	0.23150	0.037;0.044;0.032	T	0.14254	-1.0479	10	0.22109	T	0.4	-7.276	1.8164	0.03101	0.3218:0.3783:0.1776:0.1223	.	145;145;145	Q6UWH4-3;Q6UWH4-2;Q6UWH4	.;.;F198B_HUMAN	S	145	ENSP00000296530:L145S;ENSP00000377396:L145S	ENSP00000296530:L145S	L	-	2	0	FAM198B	159311544	0.005000	0.15991	0.001000	0.08648	0.148000	0.21650	1.288000	0.33296	0.057000	0.16193	0.533000	0.62120	TTG	.		0.612	FAM198B-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365230.1	NM_001031700, NM_016613	
NAF1	92345	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	4	164050138	164050138	+	Missense_Mutation	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:164050138A>G	ENST00000274054.2	-	8	1589	c.1396T>C	c.(1396-1398)Tac>Cac	p.Y466H	NAF1_ENST00000422287.2_Intron|NAF1_ENST00000509434.1_Intron	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	466	Pro-rich.				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)				ggtagggAGTATGGTAAGTTA	0.527																																					p.Y466H		.											.	NAF1-70	0			c.T1396C						.						10.0	9.0	9.0					4																	164050138		2180	4257	6437	SO:0001583	missense	92345	exon8			GGGAGTATGGTAA		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.1396T>C	4.37:g.164050138A>G	ENSP00000274054:p.Tyr466His	22	0		10	8	NM_138386	0	0	0	0	0	D3DP28|E9PAZ2	Missense_Mutation	SNP	ENST00000274054.2	37	CCDS3803.1	.	.	.	.	.	.	.	.	.	.	A	10.95	1.494446	0.26774	.	.	ENSG00000145414	ENST00000274054	T	0.34072	1.38	4.49	4.49	0.54785	.	0.709548	0.13246	N	0.402480	T	0.41465	0.1160	L	0.29908	0.895	0.09310	N	0.999999	D	0.69078	0.997	P	0.60789	0.879	T	0.16276	-1.0408	10	0.25751	T	0.34	-11.4497	10.7562	0.46239	1.0:0.0:0.0:0.0	.	466	Q96HR8	NAF1_HUMAN	H	466	ENSP00000274054:Y466H	ENSP00000274054:Y466H	Y	-	1	0	NAF1	164269588	0.990000	0.36364	0.017000	0.16124	0.027000	0.11550	4.158000	0.58150	1.964000	0.57103	0.533000	0.62120	TAC	.		0.527	NAF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364684.2	NM_138386	
NPY5R	4889	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	164271440	164271440	+	Silent	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:164271440C>T	ENST00000515560.1	+	4	1537	c.15C>T	c.(13-15)ctC>ctT	p.L5L	NPY5R_ENST00000338566.3_Silent_p.L5L|NPY5R_ENST00000506953.1_Silent_p.L5L			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	5					cardiac left ventricle morphogenesis (GO:0003214)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of ovulation cycle rhythm (GO:0060112)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of smooth muscle cell proliferation (GO:0048661)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)			NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				ATTTAGAGCTCGACGAGTATT	0.368																																					p.L5L	Melanoma(139;1287 1774 9781 19750 25599)	.											.	NPY5R-523	0			c.C15T						.						56.0	58.0	57.0					4																	164271440		2203	4300	6503	SO:0001819	synonymous_variant	4889	exon4			AGAGCTCGACGAG	BC042416	CCDS3804.1	4q31-q32	2012-08-08				ENSG00000164129		"""GPCR / Class A : Neuropeptide receptors : Y"""	7958	protein-coding gene	gene with protein product		602001				8700207, 9417917	Standard	NM_006174		Approved	NPYR5	uc003iqn.3	Q15761		ENST00000515560.1:c.15C>T	4.37:g.164271440C>T		48	0		18	13	NM_006174	0	0	0	0	0	Q6GTR7|Q92916	Silent	SNP	ENST00000515560.1	37	CCDS3804.1																																																																																			.		0.368	NPY5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364633.1	NM_006174	
AGA	175	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	178358622	178358622	+	Missense_Mutation	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:178358622T>C	ENST00000264595.2	-	5	686	c.559A>G	c.(559-561)Atc>Gtc	p.I187V	AGA_ENST00000506853.1_5'UTR	NM_000027.3|NM_001171988.1	NP_000018.2|NP_001165459.1	P20933	ASPG_HUMAN	aspartylglucosaminidase	187					protein deglycosylation (GO:0006517)|protein maturation (GO:0051604)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity (GO:0003948)|peptidase activity (GO:0008233)			endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2)	16		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)		TGCTTTAAGATACCAGGTGGT	0.338																																					p.I187V		.											.	AGA-90	0			c.A559G						.						126.0	125.0	125.0					4																	178358622		2203	4300	6503	SO:0001583	missense	175	exon5			TTAAGATACCAGG	X55330	CCDS3829.1	4q34.3	2014-06-23			ENSG00000038002	ENSG00000038002	3.5.1.26		318	protein-coding gene	gene with protein product	"""glycosylasparaginase"", ""N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase"""	613228					Standard	NM_000027		Approved	ASRG	uc003iuu.2	P20933	OTTHUMG00000160723	ENST00000264595.2:c.559A>G	4.37:g.178358622T>C	ENSP00000264595:p.Ile187Val	183	0		108	88	NM_000027	0	0	1	20	19	B2R7H2|D3DP47|Q4W5Q2|Q6FHN6|Q9UCK6|Q9UCK7|Q9UCK8	Missense_Mutation	SNP	ENST00000264595.2	37	CCDS3829.1	.	.	.	.	.	.	.	.	.	.	T	7.499	0.652178	0.14580	.	.	ENSG00000038002	ENST00000264595;ENST00000502310	D;D	0.87179	-2.22;-1.8	5.53	-6.09	0.02145	.	1.417520	0.03835	N	0.269728	T	0.72277	0.3440	N	0.17838	0.53	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.56817	-0.7916	10	0.26408	T	0.33	-20.7818	2.5096	0.04653	0.3797:0.3569:0.1004:0.163	.	187	P20933	ASPG_HUMAN	V	187;72	ENSP00000264595:I187V;ENSP00000423798:I72V	ENSP00000264595:I187V	I	-	1	0	AGA	178595616	0.000000	0.05858	0.002000	0.10522	0.195000	0.23768	-1.352000	0.02619	-0.812000	0.04363	0.533000	0.62120	ATC	.		0.338	AGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361916.1	NM_000027	
FAT1	2195	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	187532668	187532668	+	Missense_Mutation	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:187532668T>C	ENST00000441802.2	-	14	9934	c.9725A>G	c.(9724-9726)gAc>gGc	p.D3242G		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3242	Cadherin 30. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AACAAGAATGTCCTCAGACAC	0.433										HNSCC(5;0.00058)																											p.D3242G	Colon(197;1040 2055 4143 4984 49344)	.											.	FAT1-34	0			c.A9725G						.						71.0	70.0	70.0					4																	187532668		1951	4148	6099	SO:0001583	missense	2195	exon14			AGAATGTCCTCAG	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.9725A>G	4.37:g.187532668T>C	ENSP00000406229:p.Asp3242Gly	348	1		215	170	NM_005245	0	0	2	10	8		Missense_Mutation	SNP	ENST00000441802.2	37	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	T	16.71	3.199478	0.58126	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.38887	1.11	5.34	5.34	0.76211	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.57829	0.2080	L	0.45744	1.44	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.56703	-0.7935	10	0.45353	T	0.12	.	15.4829	0.75542	0.0:0.0:0.0:1.0	.	3242	Q14517	FAT1_HUMAN	G	3242;3244	ENSP00000406229:D3242G	ENSP00000260147:D3244G	D	-	2	0	FAT1	187769662	1.000000	0.71417	0.977000	0.42913	0.085000	0.17905	7.864000	0.87037	2.241000	0.73720	0.528000	0.53228	GAC	.		0.433	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245	
SDHA	6389	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	5	236583	236583	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:236583G>A	ENST00000264932.6	+	10	1416	c.1301G>A	c.(1300-1302)gGc>gAc	p.G434D	SDHA_ENST00000510361.1_Missense_Mutation_p.G386D|SDHA_ENST00000504309.1_Missense_Mutation_p.G434D	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	434					cellular metabolic process (GO:0044237)|nervous system development (GO:0007399)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	ATTGTGCCCGGCCTGTACGCC	0.602									Familial Paragangliomas																												p.G434D		.											.	SDHA-226	0			c.G1301A						.						51.0	48.0	49.0					5																	236583		2203	4298	6501	SO:0001583	missense	6389	exon10	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss	TGCCCGGCCTGTA	BC001380	CCDS3853.1	5p15	2014-09-17			ENSG00000073578	ENSG00000073578		"""Mitochondrial respiratory chain complex / Complex II"""	10680	protein-coding gene	gene with protein product		600857		SDH2		7798181	Standard	XM_005248329		Approved	FP, SDHF	uc003jao.4	P31040	OTTHUMG00000090275	ENST00000264932.6:c.1301G>A	5.37:g.236583G>A	ENSP00000264932:p.Gly434Asp	325	0		467	194	NM_004168	0	0	149	283	134	A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Missense_Mutation	SNP	ENST00000264932.6	37	CCDS3853.1	.	.	.	.	.	.	.	.	.	.	g	18.77	3.694928	0.68386	.	.	ENSG00000073578	ENST00000264932;ENST00000327872;ENST00000504309;ENST00000510361	D;D;D	0.81739	-1.53;-1.53;-1.53	5.01	5.01	0.66863	Fumarate reductase/succinate dehydrogenase flavoprotein, N-terminal (1);	0.219655	0.38164	U	0.001793	D	0.93307	0.7867	H	0.97635	4.045	0.80722	D	1	D;D;D;D;D	0.89917	0.998;1.0;1.0;0.999;1.0	D;D;D;D;D	0.81914	0.982;0.99;0.995;0.99;0.989	D	0.95499	0.8576	10	0.87932	D	0	.	16.16	0.81698	0.0:0.0:1.0:0.0	.	386;434;28;434;434	E9PBJ5;B4DYN5;B3KYA5;D6RFM5;P31040	.;.;.;.;DHSA_HUMAN	D	434;289;434;386	ENSP00000264932:G434D;ENSP00000426514:G434D;ENSP00000427703:G386D	ENSP00000264932:G434D	G	+	2	0	SDHA	289583	1.000000	0.71417	0.804000	0.32291	0.076000	0.17211	9.454000	0.97621	2.483000	0.83821	0.650000	0.86243	GGC	.		0.602	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206599.1	NM_004168	
SLC12A7	10723	broad.mit.edu;bcgsc.ca	37	5	1064007	1064007	+	Missense_Mutation	SNP	C	C	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:1064007C>A	ENST00000264930.5	-	20	2734	c.2691G>T	c.(2689-2691)atG>atT	p.M897I	MIR4635_ENST00000583759.1_RNA	NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	897					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GGTACAAGAACATCTGCAGGT	0.627																																					p.M897I		.											.	SLC12A7-138	0			c.G2691T						.						131.0	100.0	111.0					5																	1064007		2203	4300	6503	SO:0001583	missense	10723	exon20			CAAGAACATCTGC	AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"""Solute carriers"""	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.2691G>T	5.37:g.1064007C>A	ENSP00000264930:p.Met897Ile	133	1		230	104	NM_006598	0	0	10	22	12	A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Missense_Mutation	SNP	ENST00000264930.5	37	CCDS34129.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.96|10.96	1.498436|1.498436	0.26861|0.26861	.|.	.|.	ENSG00000113504|ENSG00000113504	ENST00000264930|ENST00000513223	D|.	0.86432|.	-2.12|.	4.25|4.25	1.31|1.31	0.21738|0.21738	.|.	0.537042|.	0.22245|.	N|.	0.062629|.	T|T	0.57169|0.57169	0.2035|0.2035	M|M	0.66506|0.66506	2.035|2.035	0.41784|0.41784	D|D	0.989833|0.989833	B|.	0.11235|.	0.004|.	B|.	0.06405|.	0.002|.	T|T	0.50432|0.50432	-0.8829|-0.8829	10|5	0.45353|.	T|.	0.12|.	.|.	3.6182|3.6182	0.08085|0.08085	0.1601:0.4366:0.3118:0.0914|0.1601:0.4366:0.3118:0.0914	.|.	897|.	Q9Y666|.	S12A7_HUMAN|.	I|F	897|255	ENSP00000264930:M897I|.	ENSP00000264930:M897I|.	M|V	-|-	3|1	0|0	SLC12A7|SLC12A7	1117007|1117007	0.292000|0.292000	0.24362|0.24362	0.888000|0.888000	0.34837|0.34837	0.741000|0.741000	0.42261|0.42261	-0.183000|-0.183000	0.09712|0.09712	-0.050000|-0.050000	0.13356|0.13356	0.305000|0.305000	0.20034|0.20034	ATG|GTT	.		0.627	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	NM_006598	
IRX4	50805	hgsc.bcm.edu	37	5	1882129	1882129	+	Silent	SNP	T	T	G	rs2232374	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:1882129T>G	ENST00000505790.1	-	3	546	c.90A>C	c.(88-90)ggA>ggC	p.G30G	CTD-2194D22.3_ENST00000506335.1_RNA|IRX4_ENST00000231357.2_Silent_p.G30G|IRX4_ENST00000505938.1_5'Flank|IRX4_ENST00000513692.1_Silent_p.G30G	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	30					establishment of organ orientation (GO:0048561)|heart development (GO:0007507)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		GCGTGCGGCCTCCGGACTCGC	0.741													N|||	1389	0.277356	0.2821	0.3141	5008	,	,		10764	0.3313		0.2177	False		,,,				2504	0.2505				p.G30G		.											.	IRX4-226	0			c.A90C						.			440,2456		29,382,1037	2.0	2.0	2.0		90	-2.3	0.0	5	dbSNP_98	2	967,5425		81,805,2310	no	coding-synonymous	IRX4	NM_016358.2		110,1187,3347	GG,GT,TT		15.1283,15.1934,15.1486		30/520	1882129	1407,7881	1448	3196	4644	SO:0001819	synonymous_variant	50805	exon2			GCGGCCTCCGGAC	AF124733	CCDS3867.1, CCDS75225.1	5p15.33	2011-06-20	2007-07-13		ENSG00000113430	ENSG00000113430		"""Homeoboxes / TALE class"""	6129	protein-coding gene	gene with protein product		606199	"""iroquois homeobox protein 4"""			10625552	Standard	NM_016358		Approved		uc003jcz.2	P78413	OTTHUMG00000090411	ENST00000505790.1:c.90A>C	5.37:g.1882129T>G		1	0		11	4	NM_016358	0	0	0	0	0	B2RMW5|D3DTC5|H1AFL0|H1AFL1|Q2NL64|Q9UHR2	Silent	SNP	ENST00000505790.1	37	CCDS3867.1																																																																																			T|0.735;G|0.265		0.741	IRX4-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365500.1	NM_016358	
DNAH5	1767	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	13701414	13701414	+	Silent	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:13701414T>C	ENST00000265104.4	-	77	13574	c.13470A>G	c.(13468-13470)ggA>ggG	p.G4490G		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4490					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)	p.G4490G(1)		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)					CAGTTAAAAATCCCTGGGGGT	0.408									Kartagener syndrome																												p.G4490G		.											.	DNAH5-182	1	Substitution - coding silent(1)	large_intestine(1)	c.A13470G						.						76.0	83.0	81.0					5																	13701414		2203	4300	6503	SO:0001819	synonymous_variant	1767	exon77	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	TAAAAATCCCTGG	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.13470A>G	5.37:g.13701414T>C		56	0		45	20	NM_001369	0	0	0	0	0	Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	CCDS3882.1																																																																																			.		0.408	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	
DNAH5	1767	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	13809182	13809182	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:13809182G>A	ENST00000265104.4	-	46	7827	c.7723C>T	c.(7723-7725)Cta>Tta	p.L2575L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2575	AAA 3. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GTTTGAATTAGAAAGTCAGTC	0.398									Kartagener syndrome																												p.L2575L		.											.	DNAH5-182	0			c.C7723T						.						147.0	140.0	142.0					5																	13809182		2203	4300	6503	SO:0001819	synonymous_variant	1767	exon46	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	GAATTAGAAAGTC	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.7723C>T	5.37:g.13809182G>A		170	0		204	92	NM_001369	0	0	0	0	0	Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	CCDS3882.1																																																																																			.		0.398	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	
DNAH5	1767	bcgsc.ca	37	5	13830255	13830255	+	Silent	SNP	C	C	T	rs141459197	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:13830255C>T	ENST00000265104.4	-	37	6233	c.6129G>A	c.(6127-6129)tcG>tcA	p.S2043S		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2043	AAA 1. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GGGCTGCAACCGAGAGAACTG	0.373									Kartagener syndrome				C|||	2	0.000399361	0.0008	0.0	5008	,	,		20032	0.001		0.0	False		,,,				2504	0.0				p.S2043S		.											.	DNAH5-182	0			c.G6129A						.						81.0	82.0	82.0					5																	13830255		2203	4300	6503	SO:0001819	synonymous_variant	1767	exon37	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	TGCAACCGAGAGA	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.6129G>A	5.37:g.13830255C>T		190	5		266	125	NM_001369	0	0	0	0	0	Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	CCDS3882.1																																																																																			C|0.999;T|0.001		0.373	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	
MYO10	4651	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	16711035	16711035	+	Nonsense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:16711035C>T	ENST00000513610.1	-	21	2605	c.2151G>A	c.(2149-2151)tgG>tgA	p.W717*	MYO10_ENST00000505695.1_Nonsense_Mutation_p.W56*|MYO10_ENST00000515803.1_Nonsense_Mutation_p.W56*|MYO10_ENST00000427430.2_Nonsense_Mutation_p.W74*|MYO10_ENST00000274203.9_Nonsense_Mutation_p.W74*|MYO10_ENST00000512061.1_5'UTR	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	717	Myosin motor.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						TCCCCAGCTGCCACTCGCTGT	0.567																																					p.W717X		.											.	MYO10-3	0			c.G2151A						.						34.0	34.0	34.0					5																	16711035		2071	4203	6274	SO:0001587	stop_gained	4651	exon21			CAGCTGCCACTCG	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.2151G>A	5.37:g.16711035C>T	ENSP00000421280:p.Trp717*	89	0		136	51	NM_012334	0	0	6	6	0	A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Nonsense_Mutation	SNP	ENST00000513610.1	37	CCDS54834.1	.	.	.	.	.	.	.	.	.	.	C	44	10.647618	0.99444	.	.	ENSG00000145555	ENST00000513610;ENST00000515803;ENST00000274203;ENST00000505695;ENST00000427430;ENST00000513882	.	.	.	4.96	4.96	0.65561	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.5747	0.91150	0.0:1.0:0.0:0.0	.	.	.	.	X	717;56;74;56;74;728	.	ENSP00000274203:W74X	W	-	3	0	MYO10	16764035	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.776000	0.85560	2.447000	0.82792	0.462000	0.41574	TGG	.		0.567	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334	
ZFR	51663	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	32355934	32355934	+	Missense_Mutation	SNP	C	C	T	rs55686708		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:32355934C>T	ENST00000265069.8	-	20	3259	c.3157G>A	c.(3157-3159)Gat>Aat	p.D1053N	ZFR_ENST00000510369.1_5'UTR	NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	1053	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		CCATCACTATCTCTTCTTCGT	0.368																																					p.D1053N		.											.	ZFR-90	0			c.G3157A						.						205.0	187.0	193.0					5																	32355934		2203	4300	6503	SO:0001583	missense	51663	exon20			CACTATCTCTTCT	AF100742	CCDS34139.1	5p15.2	2014-03-03			ENSG00000056097	ENSG00000056097			17277	protein-coding gene	gene with protein product		615635				11574164, 24482476	Standard	NM_016107		Approved	ZFR1, SPG71	uc003jhr.1	Q96KR1	OTTHUMG00000161979	ENST00000265069.8:c.3157G>A	5.37:g.32355934C>T	ENSP00000265069:p.Asp1053Asn	81	0		102	34	NM_016107	0	0	122	233	111	B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	Missense_Mutation	SNP	ENST00000265069.8	37	CCDS34139.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.026741	0.54683	.	.	ENSG00000056097	ENST00000265069;ENST00000382126	T	0.07327	3.2	5.53	5.53	0.82687	.	0.144296	0.64402	D	0.000009	T	0.19927	0.0479	L	0.27053	0.805	0.58432	D	0.999999	D;D	0.63880	0.993;0.993	D;D	0.74674	0.984;0.956	T	0.01283	-1.1396	10	0.62326	D	0.03	.	19.4503	0.94863	0.0:1.0:0.0:0.0	rs55686708	1032;1053	B5MEH6;Q96KR1	.;ZFR_HUMAN	N	1053;1032	ENSP00000265069:D1053N	ENSP00000265069:D1053N	D	-	1	0	ZFR	32391691	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.487000	0.81328	2.604000	0.88044	0.585000	0.79938	GAT	.		0.368	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366586.1		
ADAMTS12	81792	broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	33881505	33881505	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:33881505C>T	ENST00000504830.1	-	2	543	c.208G>A	c.(208-210)Ggc>Agc	p.G70S	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.G70S|ADAMTS12_ENST00000515401.1_Missense_Mutation_p.G70S	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	70					cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TAGTGCAAGCCATATGACAAA	0.488										HNSCC(64;0.19)																											p.G70S		.											.	ADAMTS12-232	0			c.G208A						.						125.0	126.0	126.0					5																	33881505		2203	4300	6503	SO:0001583	missense	81792	exon2			GCAAGCCATATGA	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.208G>A	5.37:g.33881505C>T	ENSP00000422554:p.Gly70Ser	71	1		75	33	NM_030955	0	0	3	3	0	A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	7.805	0.714526	0.15306	.	.	ENSG00000151388	ENST00000504830;ENST00000352040;ENST00000515401	T;T;T	0.56611	0.45;0.45;2.25	5.51	4.64	0.57946	Peptidase M12B, propeptide (1);	0.683858	0.14288	N	0.329076	T	0.34106	0.0886	L	0.27053	0.805	0.09310	N	1	B;B;B	0.31153	0.112;0.31;0.014	B;B;B	0.31686	0.019;0.134;0.029	T	0.22521	-1.0214	10	0.09843	T	0.71	.	6.6676	0.23050	0.0:0.6949:0.0:0.3051	.	70;70;70	P58397-3;D6REX0;P58397	.;.;ATS12_HUMAN	S	70	ENSP00000422554:G70S;ENSP00000344847:G70S;ENSP00000421638:G70S	ENSP00000344847:G70S	G	-	1	0	ADAMTS12	33917262	0.967000	0.33354	0.173000	0.22940	0.833000	0.47200	1.478000	0.35442	1.310000	0.45006	0.467000	0.42956	GGC	.		0.488	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955	
BRIX1	55299	ucsc.edu;bcgsc.ca	37	5	34915889	34915889	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:34915889G>A	ENST00000336767.5	+	1	409	c.46G>A	c.(46-48)Gcg>Acg	p.A16T	RAD1_ENST00000341754.4_Intron|BRIX1_ENST00000506023.1_3'UTR|RAD1_ENST00000382038.2_5'UTR	NM_018321.3	NP_060791.3	Q8TDN6	BRX1_HUMAN	BRX1, biogenesis of ribosomes, homolog (S. cerevisiae)	16				GFAVQAKKPKRNEIDAE -> RLCSSGEEAKKKRNRCG (in Ref. 1; AAL83818). {ECO:0000305}.	ribosome biogenesis (GO:0042254)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|large_intestine(2)|lung(1)	4						TGCAGTTCAGGCGAAGAAGCC	0.622																																					p.A16T		.											.	BRIX1-90	0			c.G46A						.						47.0	52.0	50.0					5																	34915889		2192	4291	6483	SO:0001583	missense	55299	exon1			GTTCAGGCGAAGA		CCDS34143.1	5p13.2	2009-09-25	2009-09-25	2009-09-25	ENSG00000113460	ENSG00000113460			24170	protein-coding gene	gene with protein product			"""brix domain containing 2"""	BXDC2		12477932	Standard	NM_018321		Approved	BRIX, FLJ11100	uc003jja.3	Q8TDN6	OTTHUMG00000162021	ENST00000336767.5:c.46G>A	5.37:g.34915889G>A	ENSP00000338862:p.Ala16Thr	418	2		478	179	NM_018321	0	0	19	42	23	A8K0P5|Q3ZTT4|Q8N453|Q96DH1	Missense_Mutation	SNP	ENST00000336767.5	37	CCDS34143.1	.	.	.	.	.	.	.	.	.	.	g	12.43	1.935334	0.34189	.	.	ENSG00000113460	ENST00000336767	T	0.45276	0.9	4.91	3.12	0.35913	.	0.604283	0.17720	N	0.164296	T	0.32763	0.0840	L	0.55481	1.735	0.32980	D	0.523558	B;B	0.09022	0.002;0.0	B;B	0.08055	0.003;0.001	T	0.35475	-0.9787	10	0.13470	T	0.59	0.0257	7.7847	0.29085	0.0888:0.3907:0.5205:0.0	.	16;16	B4E0B8;Q8TDN6	.;BRX1_HUMAN	T	16	ENSP00000338862:A16T	ENSP00000338862:A16T	A	+	1	0	BRIX1	34951646	0.243000	0.23878	0.944000	0.38274	0.362000	0.29581	0.789000	0.26886	0.657000	0.30906	0.651000	0.88453	GCG	.		0.622	BRIX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366826.2	NM_018321	
SLC1A3	6507	broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	36677261	36677261	+	Missense_Mutation	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:36677261A>G	ENST00000265113.4	+	6	1311	c.835A>G	c.(835-837)Atg>Gtg	p.M279V	CTD-2353F22.1_ENST00000510740.1_RNA|SLC1A3_ENST00000381918.3_Missense_Mutation_p.M279V	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	279					auditory behavior (GO:0031223)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cranial nerve development (GO:0021545)|D-aspartate import (GO:0070779)|gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate biosynthetic process (GO:0006537)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter uptake (GO:0001504)|positive regulation of synaptic transmission (GO:0050806)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|response to light stimulus (GO:0009416)|response to wounding (GO:0009611)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cell surface (GO:0009986)|fibril (GO:0043205)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	glutamate binding (GO:0016595)|high-affinity glutamate transmembrane transporter activity (GO:0005314)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CGAAGCCATCATGAGACTGGT	0.398																																					p.M279V		.											.	SLC1A3-90	0			c.A835G						.						101.0	98.0	99.0					5																	36677261		2203	4300	6503	SO:0001583	missense	6507	exon6			GCCATCATGAGAC		CCDS3919.1, CCDS54844.1	5p13	2013-05-22			ENSG00000079215	ENSG00000079215		"""Solute carriers"""	10941	protein-coding gene	gene with protein product	"""glutamate transporter variant EAAT1ex9skip"""	600111				7521911, 7698014	Standard	NM_004172		Approved	EAAT1, GLAST, EA6	uc003jkj.4	P43003	OTTHUMG00000090793	ENST00000265113.4:c.835A>G	5.37:g.36677261A>G	ENSP00000265113:p.Met279Val	140	1		185	89	NM_004172	0	0	5	11	6	B2R5T3|Q4JCQ8	Missense_Mutation	SNP	ENST00000265113.4	37	CCDS3919.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.486999	0.84854	.	.	ENSG00000079215	ENST00000265113;ENST00000427100;ENST00000381918	T;T	0.60920	0.15;0.15	5.92	5.92	0.95590	.	0.032360	0.85682	D	0.000000	T	0.76371	0.3978	M	0.82323	2.585	0.58432	D	0.999996	P;D	0.65815	0.767;0.995	P;P	0.61722	0.449;0.893	T	0.80388	-0.1403	10	0.87932	D	0	-37.0708	16.3631	0.83280	1.0:0.0:0.0:0.0	.	279;279	Q4JCQ8;P43003	.;EAA1_HUMAN	V	279;227;279	ENSP00000265113:M279V;ENSP00000371343:M279V	ENSP00000265113:M279V	M	+	1	0	SLC1A3	36713018	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.332000	0.96446	2.266000	0.75297	0.533000	0.62120	ATG	.		0.398	SLC1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207579.2	NM_004172	
NIPBL	25836	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	36953863	36953863	+	Splice_Site	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:36953863G>A	ENST00000282516.8	+	2	563		c.e2+1		NIPBL_ENST00000448238.2_Splice_Site	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)						brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CTCACAGACCGTAAGTTTGGT	0.348																																					.		.											.	NIPBL-293	0			c.64+1G>A	GRCh37	CS042837	NIPBL	S		.						109.0	101.0	103.0					5																	36953863		2203	4300	6503	SO:0001630	splice_region_variant	25836	exon2			CAGACCGTAAGTT	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.64+1G>A	5.37:g.36953863G>A		69	0		66	27	NM_133433	0	0	0	0	0	Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Splice_Site	SNP	ENST00000282516.8	37	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.913095	0.92178	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2231	0.93806	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NIPBL	36989620	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.384000	0.97219	2.529000	0.85273	0.655000	0.94253	.	.		0.348	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384	Intron
MROH2B	133558	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	41000914	41000914	+	Missense_Mutation	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:41000914T>C	ENST00000399564.4	-	38	4666	c.4216A>G	c.(4216-4218)Act>Gct	p.T1406A	MROH2B_ENST00000506092.2_Missense_Mutation_p.T961A	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	1406																	AAGATGGCAGTCAATCTCACA	0.458																																					p.T1406A		.											.	.	0			c.A4216G						.						59.0	60.0	60.0					5																	41000914		2089	4229	6318	SO:0001583	missense	133558	exon38			TGGCAGTCAATCT		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.4216A>G	5.37:g.41000914T>C	ENSP00000382476:p.Thr1406Ala	139	1		124	48	NM_173489	0	0	0	1	1	Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	T	11.20	1.569642	0.28003	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.61980	0.06;0.06	5.56	5.56	0.83823	Armadillo-like helical (1);Armadillo-type fold (1);	0.197228	0.36167	N	0.002742	T	0.37517	0.1006	N	0.08118	0	0.34040	D	0.6549	P	0.36086	0.536	B	0.36608	0.229	T	0.50268	-0.8848	10	0.02654	T	1	.	12.4199	0.55514	0.0:0.0:0.0:1.0	.	1406	Q7Z745	HTRB2_HUMAN	A	961;1111;1406	ENSP00000441504:T961A;ENSP00000382476:T1406A	ENSP00000296803:T1111A	T	-	1	0	HEATR7B2	41036671	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	1.627000	0.37050	2.246000	0.74042	0.533000	0.62120	ACT	.		0.458	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489	
OXCT1	5019	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	41739509	41739509	+	Missense_Mutation	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:41739509T>C	ENST00000196371.5	-	16	1664	c.1504A>G	c.(1504-1506)Act>Gct	p.T502A	OXCT1_ENST00000510634.1_Missense_Mutation_p.T105A|OXCT1_ENST00000509987.1_Missense_Mutation_p.T316A|OXCT1_ENST00000512084.1_Missense_Mutation_p.T105A	NM_000436.3	NP_000427.1	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1	502					adipose tissue development (GO:0060612)|brain development (GO:0007420)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cellular response to acid chemical (GO:0071229)|cellular response to glucose stimulus (GO:0071333)|heart development (GO:0007507)|ketone body catabolic process (GO:0046952)|ketone catabolic process (GO:0042182)|positive regulation of insulin secretion (GO:0032024)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to hormone (GO:0009725)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-oxoacid CoA-transferase activity (GO:0008260)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28					Succinic acid(DB00139)	TCACACCCAGTACTCTTCTGT	0.433																																					p.T502A		.											.	OXCT1-133	0			c.A1504G						.						148.0	133.0	138.0					5																	41739509		2203	4300	6503	SO:0001583	missense	5019	exon16			ACCCAGTACTCTT	U62961	CCDS3937.1	5p13	2008-02-05		2004-05-12	ENSG00000083720	ENSG00000083720			8527	protein-coding gene	gene with protein product		601424	"""3-oxoacid CoA transferase"""	OXCT		8751852	Standard	NM_000436		Approved	SCOT	uc003jmn.3	P55809	OTTHUMG00000094783	ENST00000196371.5:c.1504A>G	5.37:g.41739509T>C	ENSP00000196371:p.Thr502Ala	105	0		121	48	NM_000436	0	0	0	4	4	B2R5V2|B7Z528	Missense_Mutation	SNP	ENST00000196371.5	37	CCDS3937.1	.	.	.	.	.	.	.	.	.	.	T	18.00	3.524611	0.64747	.	.	ENSG00000083720	ENST00000196371;ENST00000512084;ENST00000510634;ENST00000509987	D;D;D;D	0.93604	-3.25;-3.25;-3.25;-3.25	6.16	6.16	0.99307	3-oxoacid CoA-transferase, subunit B (1);	0.000000	0.85682	D	0.000000	D	0.97770	0.9268	H	0.95043	3.615	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98821	1.0747	10	0.87932	D	0	-23.3829	15.7887	0.78332	0.0:0.0:0.0:1.0	.	502	P55809	SCOT1_HUMAN	A	502;105;105;316	ENSP00000196371:T502A;ENSP00000421143:T105A;ENSP00000423144:T105A;ENSP00000425348:T316A	ENSP00000196371:T502A	T	-	1	0	OXCT1	41775266	1.000000	0.71417	0.999000	0.59377	0.381000	0.30169	6.136000	0.71703	2.367000	0.80283	0.528000	0.53228	ACT	.		0.433	OXCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211594.2	NM_000436	
PAIP1	10605	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	43539100	43539100	+	Missense_Mutation	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:43539100T>C	ENST00000306846.3	-	5	1004	c.772A>G	c.(772-774)Aaa>Gaa	p.K258E	PAIP1_ENST00000436644.2_Missense_Mutation_p.K179E|PAIP1_ENST00000338972.4_Missense_Mutation_p.K146E|PAIP1_ENST00000514514.1_Missense_Mutation_p.K179E	NM_006451.4|NM_182789.3	NP_006442.2|NP_877590.1	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	258	MIF4G.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	RNA binding (GO:0003723)|translation activator activity (GO:0008494)			endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Lung NSC(6;2.07e-05)					TCATCCCCTTTTGCAGCTTGA	0.318																																					p.K258E		.											.	PAIP1-69	0			c.A772G						.						147.0	140.0	142.0					5																	43539100		2203	4300	6503	SO:0001583	missense	10605	exon5			CCCCTTTTGCAGC	AF013758	CCDS3947.1, CCDS3948.1, CCDS47204.1	5p12	2008-02-05			ENSG00000172239	ENSG00000172239			16945	protein-coding gene	gene with protein product		605184				9548260, 11230166	Standard	NM_006451		Approved		uc003job.3	Q9H074	OTTHUMG00000096960	ENST00000306846.3:c.772A>G	5.37:g.43539100T>C	ENSP00000302768:p.Lys258Glu	44	0		56	27	NM_006451	0	0	93	167	74	A6NKV8|O60455|Q96B61|Q9BS63	Missense_Mutation	SNP	ENST00000306846.3	37	CCDS3947.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.317585	0.81469	.	.	ENSG00000172239	ENST00000306846;ENST00000436644;ENST00000338972;ENST00000514514;ENST00000511321;ENST00000508537	T;T;T;T;T;T	0.18657	2.2;2.2;2.2;2.2;2.2;2.2	5.98	5.98	0.97165	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.098134	0.64402	D	0.000001	T	0.23410	0.0566	L	0.39020	1.185	0.45515	D	0.998474	P;P;P	0.45078	0.85;0.816;0.637	B;P;B	0.45506	0.427;0.483;0.17	T	0.01195	-1.1422	10	0.27082	T	0.32	-26.6322	16.4728	0.84119	0.0:0.0:0.0:1.0	.	179;258;179	D6REB4;Q9H074;Q9H074-2	.;PAIP1_HUMAN;.	E	258;179;146;179;146;146	ENSP00000302768:K258E;ENSP00000387729:K179E;ENSP00000339622:K146E;ENSP00000425084:K179E;ENSP00000425675:K146E;ENSP00000425736:K146E	ENSP00000302768:K258E	K	-	1	0	PAIP1	43574857	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	2.904000	0.48719	2.296000	0.77279	0.482000	0.46254	AAA	.		0.318	PAIP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214024.1	NM_006451	
PAIP1	10605	broad.mit.edu;mdanderson.org	37	5	43556100	43556100	+	Splice_Site	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:43556100C>T	ENST00000306846.3	-	2	499	c.267G>A	c.(265-267)gaG>gaA	p.E89E	PAIP1_ENST00000436644.2_Splice_Site_p.E10E|PAIP1_ENST00000338972.4_5'UTR|PAIP1_ENST00000514514.1_Splice_Site_p.E10E	NM_006451.4|NM_182789.3	NP_006442.2|NP_877590.1	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	89	Pro-rich.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	RNA binding (GO:0003723)|translation activator activity (GO:0008494)			endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Lung NSC(6;2.07e-05)					GCCTCGTTTGCTCTGCAAAAG	0.463																																					p.E89E		.											.	PAIP1-69	0			c.G267A						.						82.0	92.0	89.0					5																	43556100		2203	4300	6503	SO:0001630	splice_region_variant	10605	exon2			CGTTTGCTCTGCA	AF013758	CCDS3947.1, CCDS3948.1, CCDS47204.1	5p12	2008-02-05			ENSG00000172239	ENSG00000172239			16945	protein-coding gene	gene with protein product		605184				9548260, 11230166	Standard	NM_006451		Approved		uc003job.3	Q9H074	OTTHUMG00000096960	ENST00000306846.3:c.266-1G>A	5.37:g.43556100C>T		29	0		48	15	NM_006451	0	0	0	0	0	A6NKV8|O60455|Q96B61|Q9BS63	Silent	SNP	ENST00000306846.3	37	CCDS3947.1																																																																																			.		0.463	PAIP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214024.1	NM_006451	Silent
PELO	53918	hgsc.bcm.edu;broad.mit.edu	37	5	52096425	52096426	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	CT	CT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:52096425_52096426delCT	ENST00000274311.2	+	2	1182_1183	c.197_198delCT	c.(196-198)actfs	p.T66fs	ITGA1_ENST00000504086.1_Intron|PELO_ENST00000506949.1_Intron|ITGA1_ENST00000282588.6_Intron	NM_015946.4	NP_057030.3	Q9BRX2	PELO_HUMAN	pelota homolog (Drosophila)	66					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|chromosome organization (GO:0051276)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|nuclear-transcribed mRNA catabolic process, non-stop decay (GO:0070481)|RNA surveillance (GO:0071025)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	11		Lung NSC(810;4.94e-05)|Breast(144;0.0848)				ACTACCCTCACTCTCTGCGTGG	0.619																																					p.66_66del		.											.	PELO-44	0			c.197_198del						.																																			SO:0001589	frameshift_variant	53918	exon2			CCCTCACTCTCTG		CCDS3956.1	5q11.2	2008-07-18	2001-11-28		ENSG00000152684	ENSG00000152684			8829	protein-coding gene	gene with protein product		605757	"""pelota (Drosophila) homolog"""			11060452	Standard	NM_015946		Approved		uc003jos.3	Q9BRX2	OTTHUMG00000096973	ENST00000274311.2:c.197_198delCT	5.37:g.52096429_52096430delCT	ENSP00000274311:p.Thr66fs	234	0		260	14	NM_015946	0	0	0	0	0	Q9GZS6|Q9Y306	Frame_Shift_Del	DEL	ENST00000274311.2	37	CCDS3956.1																																																																																			.		0.619	PELO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214040.1	NM_015946	
SETD9	133383	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	56207218	56207218	+	Silent	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:56207218A>G	ENST00000285947.2	+	2	707	c.321A>G	c.(319-321)caA>caG	p.Q107Q	AC008937.3_ENST00000453721.1_RNA|SETD9_ENST00000475908.1_3'UTR|SETD9_ENST00000541720.1_Silent_p.Q107Q	NM_153706.3	NP_714917.2	Q8NE22	SETD9_HUMAN	SET domain containing 9	107							methyltransferase activity (GO:0008168)										ATCAACAGCAAAGTACCTTTA	0.388																																					p.Q107Q		.											.	.	0			c.A321G						.						72.0	70.0	71.0					5																	56207218		2203	4300	6503	SO:0001819	synonymous_variant	133383	exon2			ACAGCAAAGTACC	BC036528	CCDS3972.1	5q11.2	2012-02-23	2012-02-23	2012-02-23	ENSG00000155542	ENSG00000155542			28508	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 35"""	C5orf35		20930037	Standard	NM_153706		Approved	MGC33648	uc003jqx.3	Q8NE22	OTTHUMG00000059485	ENST00000285947.2:c.321A>G	5.37:g.56207218A>G		66	0		74	31	NM_153706	0	0	0	4	4	F5H713	Silent	SNP	ENST00000285947.2	37	CCDS3972.1																																																																																			.		0.388	SETD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132304.2	NM_153706	
MIER3	166968	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	56234785	56234785	+	Silent	SNP	T	T	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:56234785T>A	ENST00000381199.3	-	4	250	c.240A>T	c.(238-240)ccA>ccT	p.P80P	MIER3_ENST00000381226.3_Silent_p.P85P|MIER3_ENST00000381213.3_Silent_p.P80P|AC016644.1_ENST00000438553.1_RNA|MIER3_ENST00000409421.1_Silent_p.P17P			Q7Z3K6	MIER3_HUMAN	mesoderm induction early response 1, family member 3	80					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(2)|urinary_tract(1)	19		Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;1.24e-37)		TTGCAACTGCTGGAATTGTAG	0.433																																					p.P80P		.											.	MIER3-90	0			c.A240T						.						168.0	159.0	162.0					5																	56234785		2203	4300	6503	SO:0001819	synonymous_variant	166968	exon4			AACTGCTGGAATT	BX537798	CCDS3973.2, CCDS75248.1	5q11.2	2009-03-19			ENSG00000155545	ENSG00000155545			26678	protein-coding gene	gene with protein product						12477932	Standard	XM_005248448		Approved	FLJ35954, DKFZp686L09111, DKFZp781I1119	uc003jra.1	Q7Z3K6	OTTHUMG00000059589	ENST00000381199.3:c.240A>T	5.37:g.56234785T>A		83	0		114	38	NM_152622	0	0	5	9	4	B4DRI9|B8ZZQ0|Q5CZI0|Q68CS3|Q6MZS7|Q86YG8|Q8NA13	Silent	SNP	ENST00000381199.3	37																																																																																				.		0.433	MIER3-004	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000132523.2	NM_152622	
SREK1IP1	285672	broad.mit.edu	37	5	64023941	64023941	+	Frame_Shift_Del	DEL	T	T	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:64023941delT	ENST00000513458.4	-	4	438	c.271delA	c.(271-273)aggfs	p.R91fs		NM_173829.3	NP_776190.1	Q8N9Q2	SR1IP_HUMAN	SREK1-interacting protein 1	91	Lys-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)		nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(3)|ovary(1)	6						TACCttttccttttttttttc	0.264																																					p.R91fs		.											.	SREK1IP1-23	0			c.271delA						.						16.0	20.0	19.0					5																	64023941		2130	4171	6301	SO:0001589	frameshift_variant	285672	exon4			TTTTCCTTTTTTT	AK094073	CCDS34171.1	5q12.3	2010-09-20	2010-09-20	2010-09-20	ENSG00000153006	ENSG00000153006			26716	protein-coding gene	gene with protein product	"""p18 splicing regulatory protein"""		"""SFRS12-interacting protein 1"""	SFRS12IP1		15456940	Standard	NM_173829		Approved	FLJ36754, P18SRP	uc003jtk.3	Q8N9Q2	OTTHUMG00000162291	ENST00000513458.4:c.271delA	5.37:g.64023941delT	ENSP00000427401:p.Arg91fs	66	0		52	22	NM_173829	0	0	0	0	0	Q32NC8	Frame_Shift_Del	DEL	ENST00000513458.4	37	CCDS34171.1																																																																																			.		0.264	SREK1IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368457.4	NM_173829	
NLN	57486	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	65058794	65058794	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:65058794G>A	ENST00000380985.5	+	3	487	c.309G>A	c.(307-309)agG>agA	p.R103R	NLN_ENST00000502464.1_5'UTR	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN	neurolysin (metallopeptidase M3 family)	103						mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		CAGTGGAAAGGACCATGCTAG	0.413																																					p.R103R		.											.	NLN-90	0			c.G309A						.						118.0	109.0	112.0					5																	65058794		2203	4300	6503	SO:0001819	synonymous_variant	57486	exon3			GGAAAGGACCATG	AJ300837	CCDS3989.1	5q12.3	2008-02-05	2005-03-31		ENSG00000123213	ENSG00000123213	3.4.24.16		16058	protein-coding gene	gene with protein product		611530	"""angiotensin binding protein"""	AGTBP		10574462	Standard	NM_020726		Approved	KIAA1226	uc003juf.3	Q9BYT8	OTTHUMG00000097803	ENST00000380985.5:c.309G>A	5.37:g.65058794G>A		94	0		115	50	NM_020726	0	0	0	0	0	Q9ULJ4	Silent	SNP	ENST00000380985.5	37	CCDS3989.1																																																																																			.		0.413	NLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215060.1		
SLC30A5	64924	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	68412226	68412226	+	Missense_Mutation	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:68412226A>G	ENST00000396591.3	+	10	1688	c.1078A>G	c.(1078-1080)Aat>Gat	p.N360D	CTC-498J12.3_ENST00000504129.1_RNA	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN	solute carrier family 30 (zinc transporter), member 5	360					cellular protein metabolic process (GO:0044267)|cellular zinc ion homeostasis (GO:0006882)|cobalt ion transport (GO:0006824)|regulation of proton transport (GO:0010155)|response to zinc ion (GO:0010043)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	apical plasma membrane (GO:0016324)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		TGTAGCTGCCAATATCTTATC	0.368																																					p.N360D		.											.	SLC30A5-226	0			c.A1078G						.						71.0	77.0	75.0					5																	68412226		2203	4300	6503	SO:0001583	missense	64924	exon10			GCTGCCAATATCT	AF212235	CCDS3996.1, CCDS34173.1, CCDS58955.1	5q13.1	2013-05-22			ENSG00000145740	ENSG00000145740		"""Solute carriers"""	19089	protein-coding gene	gene with protein product		607819				11937503, 11904301	Standard	NM_022902		Approved	ZTL1, ZnT-5, FLJ12496, FLJ12756, ZNT5, MGC5499, ZNTL1	uc003jvh.3	Q8TAD4	OTTHUMG00000131253	ENST00000396591.3:c.1078A>G	5.37:g.68412226A>G	ENSP00000379836:p.Asn360Asp	47	0		66	28	NM_022902	0	0	0	0	0	B7ZM89|Q6UX54|Q7L4M4|Q8TDG3|Q9BVY8|Q9H9H1	Missense_Mutation	SNP	ENST00000396591.3	37	CCDS3996.1	.	.	.	.	.	.	.	.	.	.	A	8.289	0.817374	0.16607	.	.	ENSG00000145740	ENST00000396591	T	0.63417	-0.04	5.58	4.42	0.53409	.	0.161727	0.64402	N	0.000002	T	0.41650	0.1168	N	0.25647	0.755	0.80722	D	1	B;B;B	0.28233	0.204;0.013;0.204	B;B;B	0.24006	0.05;0.008;0.046	T	0.17137	-1.0379	10	0.11182	T	0.66	.	7.4037	0.26979	0.7833:0.1434:0.0733:0.0	.	189;189;360	Q9H9X0;Q8TAD4-2;Q8TAD4	.;.;ZNT5_HUMAN	D	360	ENSP00000379836:N360D	ENSP00000379836:N360D	N	+	1	0	SLC30A5	68447982	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.048000	0.76606	1.063000	0.40649	0.533000	0.62120	AAT	.		0.368	SLC30A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254017.2		
SMN1	6606	ucsc.edu;bcgsc.ca	37	5	70247769	70247769	+	Splice_Site	SNP	G	G	A	rs76163360		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:70247769G>A	ENST00000380707.4	+	8	910	c.836G>A	c.(835-837)gGt>gAt	p.G279D	SMN1_ENST00000506163.1_Intron|SMN1_ENST00000510679.1_3'UTR|SMN1_ENST00000503079.2_Splice_Site_p.G247D|SMN1_ENST00000514951.1_Splice_Site_p.G212D|SMN1_ENST00000351205.4_Splice_Site_p.G247D	NM_000344.3	NP_000335.1	Q16637	SMN_HUMAN	survival of motor neuron 1, telomeric	279	Required for interaction with SYNCRIP.		G -> C (in SMA2 and SMA3). {ECO:0000269|PubMed:10732802}.|G -> V (in SMA1; slightly reduces SMN binding to RPP20/POP7). {ECO:0000269|PubMed:9147655}.		cell death (GO:0008219)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|nervous system development (GO:0007399)|positive regulation of protein import into nucleus (GO:0042307)|RNA metabolic process (GO:0016070)|spliceosomal complex assembly (GO:0000245)|spliceosomal snRNP assembly (GO:0000387)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Gemini of coiled bodies (GO:0097504)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	identical protein binding (GO:0042802)|RNA binding (GO:0003723)						Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		TCCTTACAGGGTTTCAGACAA	0.289																																					p.G279D		.											.	SMN1-22	0			c.G836A	GRCh37	CM971397	SMN1	M	rs76163360	.						79.0	66.0	70.0					5																	70247769		2203	4296	6499	SO:0001630	splice_region_variant	6606	exon8			TACAGGGTTTCAG	U18423	CCDS34181.1, CCDS34182.1, CCDS75256.1	5q13.2	2014-09-17			ENSG00000172062	ENSG00000172062		"""Tudor domain containing"""	11117	protein-coding gene	gene with protein product	"""gemin-1"", ""tudor domain containing 16A"""	600354	"""spinal muscular atrophy (Werdnig-Hoffmann disease, Kugelberg-Welander disease)"""	SMA@, SMA		7813012	Standard	NM_022874		Approved	BCD541, SMNT, SMA1, SMA2, SMA3, GEMIN1, TDRD16A		Q16637	OTTHUMG00000099361	ENST00000380707.4:c.835-1G>A	5.37:g.70247769G>A		205	2		216	86	NM_000344	0	0	0	0	0	A8K0V4|Q13119|Q549U5|Q96J51	Missense_Mutation	SNP	ENST00000380707.4	37	CCDS34181.1	.	.	.	.	.	.	.	.	.	.	G	18.23	3.577768	0.65878	.	.	ENSG00000172062	ENST00000351205;ENST00000503079;ENST00000380707;ENST00000514951	D;D;D;D	0.99409	-5.68;-5.68;-5.85;-5.85	4.18	4.18	0.49190	.	0.058699	0.64402	U	0.000002	D	0.99245	0.9737	.	.	.	0.51012	D	0.999902	.	.	.	.	.	.	D	0.98479	1.0604	7	0.87932	D	0	-11.0346	12.7222	0.57147	0.0:0.0:1.0:0.0	.	.	.	.	D	247;247;279;212	ENSP00000305857:G247D;ENSP00000428128:G247D;ENSP00000370083:G279D;ENSP00000423298:G212D	ENSP00000305857:G247D	G	+	2	0	SMN1	70283525	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.972000	0.56838	2.287000	0.76781	0.462000	0.41574	GGT	.		0.289	SMN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216805.3	NM_000344	Missense_Mutation
POLK	51426	hgsc.bcm.edu;bcgsc.ca	37	5	74807619	74807621	+	5'UTR	DEL	AGG	AGG	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	AGG	AGG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:74807619_74807621delAGG	ENST00000241436.4	+	0	39_41				COL4A3BP_ENST00000261415.7_5'Flank|COL4A3BP_ENST00000405807.4_5'Flank|POLK_ENST00000352007.5_5'Flank|COL4A3BP_ENST00000380494.5_In_Frame_Del_p.P17del	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa						DNA repair (GO:0006281)|nucleotide-excision repair, DNA gap filling (GO:0006297)	nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		GTAGAAAAGCAGGAGGAGCGGAG	0.67								DNA polymerases (catalytic subunits)																													p.17_17del		.											.	COL4A3BP-226	0			c.49_51del						.																																			SO:0001623	5_prime_UTR_variant	10087	exon1			AAAAGCAGGAGGA	AB027564	CCDS4030.1	5q13	2012-05-18			ENSG00000122008	ENSG00000122008		"""DNA polymerases"""	9183	protein-coding gene	gene with protein product	"""polymerase (DNA-directed) kappa"", ""DINB protein"", ""DNA polymerase kappa"""	605650		DINB1		10887153, 10518552	Standard	NM_016218		Approved	POLQ, DINP	uc003kdw.3	Q9UBT6	OTTHUMG00000102107	ENST00000241436.4:c.-132AGG>-	5.37:g.74807622_74807624delAGG		120	1		130	53	NM_001130105	0	0	0	0	0	B2RBD2|Q5Q9G5|Q5Q9G6|Q5Q9G7|Q5Q9G8|Q86VJ8|Q8IZY0|Q8IZY1|Q8NB30|Q96L01|Q96Q86|Q96Q87|Q9UHC5	In_Frame_Del	DEL	ENST00000241436.4	37	CCDS4030.1																																																																																			.		0.670	POLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219945.3	NM_016218	
POLK	51426	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	74869656	74869656	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:74869656C>T	ENST00000241436.4	+	5	674	c.502C>T	c.(502-504)Ccc>Tcc	p.P168S	POLK_ENST00000504026.1_Missense_Mutation_p.P168S|POLK_ENST00000506928.1_3'UTR|POLK_ENST00000380481.3_Missense_Mutation_p.P78S|POLK_ENST00000515295.1_Missense_Mutation_p.P168S|POLK_ENST00000352007.5_Missense_Mutation_p.P168S|POLK_ENST00000508526.1_Missense_Mutation_p.P168S	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	168	UmuC.				DNA repair (GO:0006281)|nucleotide-excision repair, DNA gap filling (GO:0006297)	nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		TATAATAGTGCCCCCCAACTT	0.443								DNA polymerases (catalytic subunits)																													p.P168S		.											.	POLK-229	0			c.C502T						.						126.0	120.0	122.0					5																	74869656		2203	4299	6502	SO:0001583	missense	51426	exon5			ATAGTGCCCCCCA	AB027564	CCDS4030.1	5q13	2012-05-18			ENSG00000122008	ENSG00000122008		"""DNA polymerases"""	9183	protein-coding gene	gene with protein product	"""polymerase (DNA-directed) kappa"", ""DINB protein"", ""DNA polymerase kappa"""	605650		DINB1		10887153, 10518552	Standard	NM_016218		Approved	POLQ, DINP	uc003kdw.3	Q9UBT6	OTTHUMG00000102107	ENST00000241436.4:c.502C>T	5.37:g.74869656C>T	ENSP00000241436:p.Pro168Ser	158	0		160	78	NM_016218	0	0	15	20	5	B2RBD2|Q5Q9G5|Q5Q9G6|Q5Q9G7|Q5Q9G8|Q86VJ8|Q8IZY0|Q8IZY1|Q8NB30|Q96L01|Q96Q86|Q96Q87|Q9UHC5	Missense_Mutation	SNP	ENST00000241436.4	37	CCDS4030.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.353570	0.82243	.	.	ENSG00000122008	ENST00000241436;ENST00000352007;ENST00000515295;ENST00000504026;ENST00000508526;ENST00000380481	T;T;T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68;-0.68;-0.68	6.01	4.15	0.48705	DNA-repair protein, UmuC-like, N-terminal (1);DNA-repair protein, UmuC-like (1);	0.046651	0.85682	D	0.000000	T	0.79736	0.4497	L	0.60904	1.88	0.80722	D	1	P;P;D;D	0.69078	0.923;0.835;0.981;0.997	P;P;D;D	0.74023	0.67;0.644;0.923;0.982	T	0.80246	-0.1462	10	0.66056	D	0.02	-6.663	12.7472	0.57287	0.0:0.8161:0.1183:0.0656	.	168;168;168;168	Q9UBT6-3;Q5Q9G5;Q9UBT6-2;Q9UBT6	.;.;.;POLK_HUMAN	S	168;168;168;168;168;78	ENSP00000241436:P168S;ENSP00000342256:P168S;ENSP00000424174:P168S;ENSP00000425075:P168S;ENSP00000426853:P168S;ENSP00000369848:P78S	ENSP00000241436:P168S	P	+	1	0	POLK	74905412	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	4.004000	0.57068	2.850000	0.98022	0.655000	0.94253	CCC	.		0.443	POLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219945.3	NM_016218	
IQGAP2	10788	broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	75896750	75896750	+	Missense_Mutation	SNP	A	A	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:75896750A>C	ENST00000274364.6	+	11	1482	c.1185A>C	c.(1183-1185)agA>agC	p.R395S	IQGAP2_ENST00000379730.3_5'UTR	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	395					negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		ATCAACTCAGAAGCCCCGCAA	0.438																																					p.R395S		.											.	IQGAP2-96	0			c.A1185C						.						119.0	108.0	112.0					5																	75896750		2203	4300	6503	SO:0001583	missense	10788	exon11			ACTCAGAAGCCCC	U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.1185A>C	5.37:g.75896750A>C	ENSP00000274364:p.Arg395Ser	127	2		177	87	NM_006633	0	0	1	1	0	A8K4V1|B7Z8A4|J3KR91	Missense_Mutation	SNP	ENST00000274364.6	37	CCDS34188.1	.	.	.	.	.	.	.	.	.	.	A	7.102	0.574226	0.13623	.	.	ENSG00000145703	ENST00000274364;ENST00000514350;ENST00000505766	T;T;T	0.04360	3.64;3.64;3.64	5.31	1.5	0.22942	.	0.407840	0.25391	N	0.031001	T	0.02610	0.0079	N	0.20401	0.57	0.80722	D	1	B	0.09022	0.002	B	0.09377	0.004	T	0.47774	-0.9091	10	0.09338	T	0.73	-21.9144	6.1892	0.20513	0.4625:0.3902:0.1473:0.0	.	395	Q13576	IQGA2_HUMAN	S	395;368;345	ENSP00000274364:R395S;ENSP00000423672:R368S;ENSP00000421097:R345S	ENSP00000274364:R395S	R	+	3	2	IQGAP2	75932506	0.346000	0.24844	1.000000	0.80357	0.997000	0.91878	0.619000	0.24388	0.084000	0.17077	0.460000	0.39030	AGA	.		0.438	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368877.1	NM_006633	
MSH3	4437	broad.mit.edu	37	5	79950742	79950750	+	In_Frame_Del	DEL	CCCCCAGCT	CCCCCAGCT	-	rs144629981|rs3045983|rs557874766|rs1047489	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:79950742_79950750delCCCCCAGCT	ENST00000265081.6	+	1	276_284	c.196_204delCCCCCAGCT	c.(196-204)cccccagctdel	p.PPA66del	DHFR_ENST00000513048.1_5'Flank|DHFR_ENST00000439211.2_5'UTR|DHFR_ENST00000504396.1_5'Flank|DHFR_ENST00000511032.1_5'Flank|DHFR_ENST00000505337.1_5'Flank	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	66					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		gCCCCCAGCGCCCCCAGCTCCCGCCTTCC	0.732								Mismatch excision repair (MMR)						1174	0.234425	0.2874	0.2061	5008	,	,		7173	0.0565		0.2535	False		,,,				2504	0.3466				p.66_68del	Melanoma(88;1010 1399 13793 26548 36275)	.											.	MSH3-661	0			c.196_204del						.		,	1105,2179		342,421,879					,	4.0	1.0		dbSNP_102	4	1941,4615		567,807,1904	no	coding,utr-5	DHFR,MSH3	NM_002439.3,NM_000791.3	,	909,1228,2783	A1A1,A1R,RR		29.6065,33.648,30.9553	,	,		3046,6794				SO:0001651	inframe_deletion	4437	exon1			CCAGCGCCCCCAG	U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"""Divergent upstream protein"", ""Mismatch repair protein 1"""	600887	"""mutS (E. coli) homolog 3"", ""mutS homolog 3 (E. coli)"""				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.196_204delCCCCCAGCT	5.37:g.79950742_79950750delCCCCCAGCT	ENSP00000265081:p.Pro66_Ala68del	6	0		16	7	NM_002439	0	0	0	0	0	A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	In_Frame_Del	DEL	ENST00000265081.6	37	CCDS34195.1																																																																																			.		0.732	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369471.1	NM_002439	
VCAN	1462	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	82816109	82816109	+	Missense_Mutation	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:82816109A>G	ENST00000265077.3	+	7	2549	c.1984A>G	c.(1984-1986)Aaa>Gaa	p.K662E	VCAN_ENST00000512590.2_Missense_Mutation_p.K614E|VCAN_ENST00000342785.4_Missense_Mutation_p.K662E|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	662	GAG-alpha (glucosaminoglycan attachment domain).				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	TTCTGGTGATAAAATATTAGT	0.353																																					p.K662E		.											.	VCAN-238	0			c.A1984G						.						78.0	79.0	79.0					5																	82816109		2203	4299	6502	SO:0001583	missense	1462	exon7			GGTGATAAAATAT	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.1984A>G	5.37:g.82816109A>G	ENSP00000265077:p.Lys662Glu	66	1		66	26	NM_004385	0	0	0	0	0	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	A	9.941	1.217579	0.22373	.	.	ENSG00000038427	ENST00000265077;ENST00000342785;ENST00000512590	T;T;T	0.23950	1.88;1.88;1.88	5.81	-1.15	0.09709	.	0.299914	0.28971	N	0.013543	T	0.16128	0.0388	L	0.60455	1.87	0.09310	N	1	B;P	0.35844	0.4;0.524	B;B	0.33960	0.173;0.138	T	0.13737	-1.0498	10	0.19590	T	0.45	.	2.2074	0.03939	0.2632:0.3678:0.2578:0.1111	.	662;662	P13611-3;P13611	.;CSPG2_HUMAN	E	662;662;614	ENSP00000265077:K662E;ENSP00000342768:K662E;ENSP00000425959:K614E	ENSP00000265077:K662E	K	+	1	0	VCAN	82851865	0.000000	0.05858	0.428000	0.26697	0.989000	0.77384	0.365000	0.20348	-0.137000	0.11455	0.533000	0.62120	AAA	.		0.353	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385	
CETN3	1070	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	89703515	89703515	+	Splice_Site	SNP	C	C	T	rs143515805		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:89703515C>T	ENST00000283122.3	-	2	278		c.e2+1		CETN3_ENST00000522842.1_Splice_Site|CETN3_ENST00000522565.1_Splice_Site|CETN3_ENST00000522083.1_Splice_Site|CETN3_ENST00000522864.1_Splice_Site	NM_004365.2	NP_004356.2	O15182	CETN3_HUMAN	centrin, EF-hand protein, 3						centrosome cycle (GO:0007098)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|photoreceptor connecting cilium (GO:0032391)	calcium ion binding (GO:0005509)			lung(3)	3		all_cancers(142;7.93e-09)|all_epithelial(76;2.13e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.42e-32)|Epithelial(54;1.45e-26)|all cancers(79;2.87e-23)		TATACCATTACCTTTAATTCA	0.254																																					.		.											.	CETN3-90	0			c.153+1G>A						.						82.0	81.0	81.0					5																	89703515		2198	4287	6485	SO:0001630	splice_region_variant	1070	exon3			CCATTACCTTTAA	Y12473	CCDS4066.1, CCDS75274.1	5q14.3	2013-01-10	2010-06-24		ENSG00000153140	ENSG00000153140		"""EF-hand domain containing"""	1868	protein-coding gene	gene with protein product	"""CDC31 yeast homolog"", ""EF-hand superfamily member"""	602907	"""centrin, EF-hand protein, 3 (CDC31 yeast homolog)"""			9256449	Standard	XM_006714521		Approved	CEN3	uc003kjo.3	O15182	OTTHUMG00000131326	ENST00000283122.3:c.153+1G>A	5.37:g.89703515C>T		89	0		91	36	NM_004365	0	0	0	0	0	Q53YD2|Q9BS23	Splice_Site	SNP	ENST00000283122.3	37	CCDS4066.1	.	.	.	.	.	.	.	.	.	.	C	19.76	3.888322	0.72524	.	.	ENSG00000153140	ENST00000283122;ENST00000522083;ENST00000522864;ENST00000522565;ENST00000522842	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.712	0.91661	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CETN3	89739271	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	7.591000	0.82666	2.649000	0.89929	0.561000	0.74099	.	C|1.000;G|0.000		0.254	CETN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254097.1	NM_004365	Intron
GPR98	84059	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	89990218	89990218	+	Missense_Mutation	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:89990218A>G	ENST00000405460.2	+	33	7741	c.7645A>G	c.(7645-7647)Aac>Gac	p.N2549D		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2549					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TCACCTCATGAACATTTCAGC	0.393																																					p.N2549D		.											.	GPR98-103	0			c.A7645G						.						150.0	141.0	144.0					5																	89990218		1857	4107	5964	SO:0001583	missense	84059	exon33			CTCATGAACATTT	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.7645A>G	5.37:g.89990218A>G	ENSP00000384582:p.Asn2549Asp	151	0		146	68	NM_032119	0	0	0	0	0	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	CCDS47246.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.88|19.88	3.909126|3.909126	0.72868|0.72868	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000405460;ENST00000296619|ENST00000509621	T|.	0.34859|.	1.34|.	5.88|5.88	5.88|5.88	0.94601|0.94601	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.73297|.	0.3569|.	M|M	0.65975|0.65975	2.015|2.015	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.999|.	D;D|.	0.76071|.	0.987;0.979|.	T|.	0.72374|.	-0.4313|.	10|.	0.59425|.	D|.	0.04|.	.|.	16.2879|16.2879	0.82732|0.82732	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	2549;2549|.	E7ETI5;Q8WXG9|.	.;GPR98_HUMAN|.	D|W	2549|114	ENSP00000384582:N2549D|.	ENSP00000296619:N2549D|.	N|X	+|+	1|3	0|0	GPR98|GPR98	90025974|90025974	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.948000|0.948000	0.59901|0.59901	7.248000|7.248000	0.78268|0.78268	2.242000|2.242000	0.73789|0.73789	0.533000|0.533000	0.62120|0.62120	AAC|TGA	.		0.393	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119	
NR2F1	7025	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	92923842	92923842	+	Missense_Mutation	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:92923842T>C	ENST00000327111.3	+	2	2370	c.683T>C	c.(682-684)tTc>tCc	p.F228S	NR2F1-AS1_ENST00000513055.1_RNA	NM_005654.4	NP_005645.1	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	228					cerebral cortex regionalization (GO:0021796)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|retinoic acid-responsive element binding (GO:0044323)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		CGCCTGCTCTTCAGCGCCGTC	0.647																																					p.F228S		.											.	NR2F1-227	0			c.T683C						.						78.0	77.0	77.0					5																	92923842		2203	4300	6503	SO:0001583	missense	7025	exon2			TGCTCTTCAGCGC	BC004154	CCDS4068.1	5q14	2013-01-16			ENSG00000175745	ENSG00000175745		"""Nuclear hormone receptors"""	7975	protein-coding gene	gene with protein product		132890		ERBAL3, TFCOUP1		8530078	Standard	NM_005654		Approved	EAR-3, COUP-TFI, TCFCOUP1, SVP44	uc003kkj.3	P10589	OTTHUMG00000119079	ENST00000327111.3:c.683T>C	5.37:g.92923842T>C	ENSP00000325819:p.Phe228Ser	153	0		294	122	NM_005654	0	0	4	7	3		Missense_Mutation	SNP	ENST00000327111.3	37	CCDS4068.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.076288	0.76415	.	.	ENSG00000175745	ENST00000327111	T	0.54279	0.58	4.47	4.47	0.54385	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	T	0.76842	0.4044	M	0.93638	3.44	0.80722	D	1	D	0.60575	0.988	D	0.62955	0.909	D	0.83905	0.0292	10	0.87932	D	0	.	13.8968	0.63778	0.0:0.0:0.0:1.0	.	228	P10589	COT1_HUMAN	S	228	ENSP00000325819:F228S	ENSP00000325819:F228S	F	+	2	0	NR2F1	92949598	1.000000	0.71417	1.000000	0.80357	0.465000	0.32709	7.808000	0.86044	1.857000	0.53885	0.334000	0.21626	TTC	.		0.647	NR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239293.2	NM_005654	
KIAA0825	285600	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	93807267	93807267	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:93807267G>A	ENST00000513200.3	-	8	1697	c.1625C>T	c.(1624-1626)gCa>gTa	p.A542V	KIAA0825_ENST00000312498.7_Missense_Mutation_p.A542V|KIAA0825_ENST00000427991.2_Missense_Mutation_p.A542V	NM_001145678.1	NP_001139150.1	Q8IV33	K0825_HUMAN	KIAA0825	542										breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(1)	13						TTTCAGGGGTGCTTTGGAAGG	0.448																																					p.A542V		.											.	KIAA0825-91	0			c.C1625T						.						217.0	186.0	195.0					5																	93807267		692	1591	2283	SO:0001583	missense	285600	exon9			AGGGGTGCTTTGG	BX648338	CCDS4070.1	5q15	2011-02-23	2011-02-23	2011-02-23	ENSG00000185261	ENSG00000185261			28532	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 36"""	C5orf36		12477932	Standard	NM_173665		Approved	DKFZp686F0372, MGC34713	uc011cuk.2	Q8IV33	OTTHUMG00000131331	ENST00000513200.3:c.1625C>T	5.37:g.93807267G>A	ENSP00000424618:p.Ala542Val	93	0		113	50	NM_001145678	0	0	0	0	0	O94914|Q6ZNN2	Missense_Mutation	SNP	ENST00000513200.3	37		.	.	.	.	.	.	.	.	.	.	G	12.73	2.025753	0.35701	.	.	ENSG00000185261	ENST00000513200;ENST00000427991;ENST00000312498	T;T;T	0.59502	0.26;0.26;0.28	5.51	4.63	0.57726	.	0.078660	0.49305	D	0.000160	T	0.54287	0.1849	L	0.52364	1.645	0.40723	D	0.982679	P	0.49358	0.923	B	0.42771	0.397	T	0.61103	-0.7130	10	0.52906	T	0.07	.	15.2448	0.73499	0.0709:0.0:0.9291:0.0	.	542	Q8IV33	K0825_HUMAN	V	542	ENSP00000424618:A542V;ENSP00000400288:A542V;ENSP00000312205:A542V	ENSP00000312205:A542V	A	-	2	0	KIAA0825	93833023	1.000000	0.71417	1.000000	0.80357	0.256000	0.26092	5.790000	0.69038	2.738000	0.93877	0.655000	0.94253	GCA	.		0.448	KIAA0825-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000254102.5	NM_173665	
ERAP1	51752	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	96117463	96117463	+	Missense_Mutation	SNP	G	G	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:96117463G>C	ENST00000443439.2	-	16	2447	c.2381C>G	c.(2380-2382)tCc>tGc	p.S794C	ERAP1_ENST00000296754.3_Missense_Mutation_p.S794C|ERAP1_ENST00000514604.1_5'UTR	NM_001040458.1|NM_001198541.1	NP_001035548.1|NP_001185470.1	Q9NZ08	ERAP1_HUMAN	endoplasmic reticulum aminopeptidase 1	794					angiogenesis (GO:0001525)|antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|fat cell differentiation (GO:0045444)|membrane protein ectodomain proteolysis (GO:0006509)|positive regulation of angiogenesis (GO:0045766)|regulation of blood pressure (GO:0008217)|regulation of innate immune response (GO:0045088)|response to bacterium (GO:0009617)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	aminopeptidase activity (GO:0004177)|interleukin-1, Type II receptor binding (GO:0005151)|interleukin-6 receptor binding (GO:0005138)|metalloexopeptidase activity (GO:0008235)|zinc ion binding (GO:0008270)			endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2)	19		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)		CTCAGTACTGGACAAAGAAAA	0.448																																					p.S794C		.											.	ERAP1-70	0			c.C2381G						.						120.0	125.0	123.0					5																	96117463		2203	4300	6503	SO:0001583	missense	51752	exon16			GTACTGGACAAAG	AB011097	CCDS4085.1, CCDS47250.1	5q15	2014-04-07			ENSG00000164307	ENSG00000164307			18173	protein-coding gene	gene with protein product	"""aminopeptidase regulator of TNFR1 shedding"", ""adipocyte-derived leucine aminopeptidase"", ""puromycin-insensitive leucyl-specific aminopeptidase"""	606832				10220586, 12189246, 16286653	Standard	NM_001198541		Approved	ARTS-1, A-LAP, PILS-AP, KIAA0525, ERAAP1	uc003kml.3	Q9NZ08	OTTHUMG00000128721	ENST00000443439.2:c.2381C>G	5.37:g.96117463G>C	ENSP00000406304:p.Ser794Cys	42	0		60	21	NM_001198541	0	0	4	7	3	O60278|Q6UWY6|Q8NEL4|Q8TAD0|Q9UHF8|Q9UKY2	Missense_Mutation	SNP	ENST00000443439.2	37	CCDS47250.1	.	.	.	.	.	.	.	.	.	.	G	12.67	2.008907	0.35415	.	.	ENSG00000164307	ENST00000296754;ENST00000443439;ENST00000414384	T;T	0.08634	3.07;3.07	6.16	6.16	0.99307	.	0.302670	0.39146	N	0.001451	T	0.11281	0.0275	M	0.65975	2.015	0.33920	D	0.640798	B;B;B	0.30584	0.286;0.208;0.173	B;B;B	0.26310	0.068;0.068;0.055	T	0.05801	-1.0863	10	0.38643	T	0.18	.	12.0424	0.53460	0.1065:0.0:0.8935:0.0	.	794;794;794	A8K6H1;Q9NZ08;Q9NZ08-2	.;ERAP1_HUMAN;.	C	794	ENSP00000296754:S794C;ENSP00000406304:S794C	ENSP00000296754:S794C	S	-	2	0	ERAP1	96143219	1.000000	0.71417	1.000000	0.80357	0.558000	0.35554	3.483000	0.53194	2.937000	0.99478	0.650000	0.86243	TCC	.		0.448	ERAP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370699.1	NM_016442	
LNPEP	4012	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	96315242	96315242	+	Silent	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:96315242C>T	ENST00000231368.5	+	2	1112	c.420C>T	c.(418-420)ggC>ggT	p.G140G	LNPEP_ENST00000395770.3_Silent_p.G126G	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	140					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-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|membrane organization (GO:0061024)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|early endosome lumen (GO:0031905)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		CCAAAGAAGGCTGCCATAAAA	0.448																																					p.G140G		.											.	LNPEP-229	0			c.C420T						.						75.0	77.0	76.0					5																	96315242		2203	4300	6503	SO:0001819	synonymous_variant	4012	exon2			AGAAGGCTGCCAT	D50810	CCDS4087.1, CCDS43346.1	5q15	2011-07-25			ENSG00000113441	ENSG00000113441	3.4.11.3		6656	protein-coding gene	gene with protein product	"""cystinyl aminopeptidase"", ""placental leucine aminopeptidase"""	151300				8550619	Standard	NM_175920		Approved	CAP, PLAP, P-LAP	uc003kmw.1	Q9UIQ6	OTTHUMG00000128719	ENST00000231368.5:c.420C>T	5.37:g.96315242C>T		120	0		158	64	NM_005575	0	0	1	2	1	O00769|Q15145|Q59H76|Q9TNQ2|Q9TNQ3|Q9UIQ7	Silent	SNP	ENST00000231368.5	37	CCDS4087.1																																																																																			.		0.448	LNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250624.1	NM_005575	
LNPEP	4012	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	96315342	96315342	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:96315342C>T	ENST00000231368.5	+	2	1212	c.520C>T	c.(520-522)Cca>Tca	p.P174S	LNPEP_ENST00000395770.3_Missense_Mutation_p.P160S	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	174					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-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|membrane organization (GO:0061024)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|early endosome lumen (GO:0031905)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		TGCCGTTGTGCCACTACGCTA	0.458																																					p.P174S		.											.	LNPEP-229	0			c.C520T						.						104.0	100.0	101.0					5																	96315342		2203	4300	6503	SO:0001583	missense	4012	exon2			GTTGTGCCACTAC	D50810	CCDS4087.1, CCDS43346.1	5q15	2011-07-25			ENSG00000113441	ENSG00000113441	3.4.11.3		6656	protein-coding gene	gene with protein product	"""cystinyl aminopeptidase"", ""placental leucine aminopeptidase"""	151300				8550619	Standard	NM_175920		Approved	CAP, PLAP, P-LAP	uc003kmw.1	Q9UIQ6	OTTHUMG00000128719	ENST00000231368.5:c.520C>T	5.37:g.96315342C>T	ENSP00000231368:p.Pro174Ser	95	0		101	47	NM_005575	0	0	4	8	4	O00769|Q15145|Q59H76|Q9TNQ2|Q9TNQ3|Q9UIQ7	Missense_Mutation	SNP	ENST00000231368.5	37	CCDS4087.1	.	.	.	.	.	.	.	.	.	.	C	16.92	3.254976	0.59321	.	.	ENSG00000113441	ENST00000231368;ENST00000395770	T;T	0.05786	3.39;3.39	5.63	5.63	0.86233	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.107172	0.64402	D	0.000004	T	0.41073	0.1143	H	0.96365	3.81	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.57590	-0.7785	10	0.87932	D	0	.	19.6478	0.95789	0.0:1.0:0.0:0.0	.	174	Q9UIQ6	LCAP_HUMAN	S	174;160	ENSP00000231368:P174S;ENSP00000379117:P160S	ENSP00000231368:P174S	P	+	1	0	LNPEP	96341098	1.000000	0.71417	0.256000	0.24389	0.159000	0.22180	7.252000	0.78309	2.814000	0.96858	0.591000	0.81541	CCA	.		0.458	LNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250624.1	NM_005575	
SLCO4C1	353189	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	101631819	101631819	+	Nonsense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:101631819G>A	ENST00000310954.6	-	1	434	c.148C>T	c.(148-150)Cag>Tag	p.Q50*		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1											breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		TGGGGCTTCTGAAGCTCCTGT	0.592																																					p.Q50X		.											.	SLCO4C1-93	0			c.C148T						.						58.0	63.0	61.0					5																	101631819		2203	4300	6503	SO:0001587	stop_gained	353189	exon1			GCTTCTGAAGCTC	AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"""Solute carriers"""	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.148C>T	5.37:g.101631819G>A	ENSP00000309741:p.Gln50*	34	1		47	20	NM_180991	0	0	0	0	0		Nonsense_Mutation	SNP	ENST00000310954.6	37	CCDS34205.1	.	.	.	.	.	.	.	.	.	.	G	36	5.611945	0.96637	.	.	ENSG00000173930	ENST00000310954	.	.	.	1.11	1.11	0.20524	.	2.417310	0.01818	N	0.033885	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	.	5.5807	0.17248	0.0:0.0:1.0:0.0	.	.	.	.	X	50	.	ENSP00000309741:Q50X	Q	-	1	0	SLCO4C1	101659718	0.003000	0.15002	0.004000	0.12327	0.465000	0.32709	1.080000	0.30779	0.894000	0.36317	0.313000	0.20887	CAG	.		0.592	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1	NM_180991	
APC	324	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	112178919	112178919	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:112178919G>A	ENST00000457016.1	+	16	8008	c.7628G>A	c.(7627-7629)aGg>aAg	p.R2543K	APC_ENST00000257430.4_Missense_Mutation_p.R2543K|APC_ENST00000508376.2_Missense_Mutation_p.R2543K|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	2543	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CCAATCAATAGGTCAGGAACC	0.433		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											p.R2543K	NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	.	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	.	APC-12026	1	Unknown(1)	skin(1)	c.G7628A						.						87.0	84.0	85.0					5																	112178919		2202	4300	6502	SO:0001583	missense	324	exon17	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	TCAATAGGTCAGG	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.7628G>A	5.37:g.112178919G>A	ENSP00000413133:p.Arg2543Lys	111	0		146	59	NM_001127510	0	0	20	31	11	D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.064249	0.76187	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.83673	-1.75;-1.75;-1.75	6.07	6.07	0.98685	Adenomatous polyposis coli protein basic domain (1);	0.000000	0.85682	D	0.000000	D	0.89763	0.6809	L	0.54323	1.7	0.54753	D	0.999982	D;D	0.63046	0.992;0.992	D;D	0.76071	0.987;0.987	D	0.87312	0.2312	9	.	.	.	-16.0194	20.6439	0.99570	0.0:0.0:1.0:0.0	.	2545;2543	Q4LE70;P25054	.;APC_HUMAN	K	2543	ENSP00000413133:R2543K;ENSP00000257430:R2543K;ENSP00000427089:R2543K	.	R	+	2	0	APC	112206818	1.000000	0.71417	0.989000	0.46669	0.895000	0.52256	8.993000	0.93524	2.884000	0.98904	0.655000	0.94253	AGG	.		0.433	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
LVRN	206338	broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	115320392	115320392	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:115320392G>A	ENST00000357872.4	+	3	1088	c.964G>A	c.(964-966)Gaa>Aaa	p.E322K	AQPEP_ENST00000395528.2_5'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		322						integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)										CAACAGAACAGAAAGGGGCAA	0.443																																					p.E322K		.											.	.	0			c.G964A						.						92.0	72.0	79.0					5																	115320392		2202	4300	6502	SO:0001583	missense	0	exon3			AGAACAGAAAGGG																												ENST00000357872.4:c.964G>A	5.37:g.115320392G>A	ENSP00000350541:p.Glu322Lys	173	2		193	88	NM_173800	0	0	0	0	0	A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Missense_Mutation	SNP	ENST00000357872.4	37	CCDS4124.1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.017933	0.35606	.	.	ENSG00000172901	ENST00000357872;ENST00000379578	T	0.02552	4.25	4.93	4.93	0.64822	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.000000	0.64402	D	0.000006	T	0.06826	0.0174	N	0.25286	0.73	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.56860	-0.7909	10	0.10111	T	0.7	.	17.274	0.87110	0.0:0.0:1.0:0.0	.	322	Q6Q4G3	AMPQ_HUMAN	K	322;311	ENSP00000350541:E322K	ENSP00000350541:E322K	E	+	1	0	AC010282.1	115348291	1.000000	0.71417	0.651000	0.29564	0.279000	0.26890	5.253000	0.65452	2.449000	0.82847	0.557000	0.71058	GAA	.		0.443	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250852.1		
SEMA6A	57556	broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	115782363	115782363	+	Silent	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:115782363T>C	ENST00000343348.6	-	19	3826	c.3039A>G	c.(3037-3039)aaA>aaG	p.K1013K	SEMA6A_ENST00000257414.8_Silent_p.K1030K|SEMA6A_ENST00000513137.1_Silent_p.K440K|CTB-118N6.3_ENST00000508424.1_RNA|SEMA6A_ENST00000503865.1_Silent_p.K392K|CTB-118N6.3_ENST00000508640.1_RNA|CTB-118N6.3_ENST00000512128.1_RNA|SEMA6A_ENST00000510263.1_Silent_p.K1013K|CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000282394.6_Silent_p.K490K	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	1013					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)		CAAAGGATGGTTTGGGGGGTA	0.602																																					p.K1013K		.											.	SEMA6A-92	0			c.A3039G						.						28.0	31.0	30.0					5																	115782363		2076	4214	6290	SO:0001819	synonymous_variant	57556	exon19			GGATGGTTTGGGG	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.3039A>G	5.37:g.115782363T>C		113	1		123	61	NM_020796	0	0	17	40	23	Q9P2H9	Silent	SNP	ENST00000343348.6	37	CCDS47256.1	.	.	.	.	.	.	.	.	.	.	T	3.202	-0.163408	0.06502	.	.	ENSG00000092421	ENST00000515129	.	.	.	4.36	1.95	0.26073	.	.	.	.	.	T	0.55353	0.1915	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45381	-0.9265	4	.	.	.	.	7.6995	0.28615	0.0:0.2592:0.0:0.7408	.	.	.	.	S	528	.	.	N	-	2	0	SEMA6A	115810262	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	1.233000	0.32648	0.236000	0.21180	0.379000	0.24179	AAC	.		0.602	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	115815886	115815886	+	Silent	SNP	C	C	T	rs369918649		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:115815886C>T	ENST00000343348.6	-	12	1969	c.1182G>A	c.(1180-1182)acG>acA	p.T394T	SEMA6A_ENST00000257414.8_Silent_p.T394T|CTB-118N6.3_ENST00000508640.1_RNA|SEMA6A_ENST00000510263.1_Silent_p.T394T|CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000282394.6_5'Flank|CTB-118N6.3_ENST00000514214.1_RNA	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	394	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)	p.T394T(1)		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)		TGAGCGGGTGCGTCTTGATGA	0.498																																					p.T394T		.											.	SEMA6A-92	1	Substitution - coding silent(1)	large_intestine(1)	c.G1182A						.	C		0,3958		0,0,1979	135.0	132.0	133.0		1182	-4.6	1.0	5		133	1,8347		0,1,4173	no	coding-synonymous	SEMA6A	NM_020796.3		0,1,6152	TT,TC,CC		0.012,0.0,0.0081		394/1031	115815886	1,12305	1979	4174	6153	SO:0001819	synonymous_variant	57556	exon12			CGGGTGCGTCTTG	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.1182G>A	5.37:g.115815886C>T		152	0		201	86	NM_020796	0	0	22	35	13	Q9P2H9	Silent	SNP	ENST00000343348.6	37	CCDS47256.1																																																																																			.		0.498	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371270.1	NM_020796	
FAM170A	340069	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	118970154	118970154	+	Silent	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:118970154C>T	ENST00000515256.1	+	3	883	c.711C>T	c.(709-711)ttC>ttT	p.F237F				A1A519	F170A_HUMAN	family with sequence similarity 170, member A	237					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						GCCGGGTGTTCACCACCATGG	0.592																																					p.F237F		.											.	FAM170A-91	0			c.C711T						.						126.0	132.0	130.0					5																	118970154		2076	4210	6286	SO:0001819	synonymous_variant	340069	exon3			GGTGTTCACCACC	AF427126	CCDS43353.1, CCDS54889.1	5q23.1	2008-06-12			ENSG00000164334	ENSG00000164334			27963	protein-coding gene	gene with protein product						12477932	Standard	NM_182761		Approved		uc003ksn.3	A1A519	OTTHUMG00000162946	ENST00000515256.1:c.711C>T	5.37:g.118970154C>T		142	1		162	67	NM_182761	0	0	0	0	0	Q66LM8|Q7Z4V2|Q8IW94	Silent	SNP	ENST00000515256.1	37																																																																																				.		0.592	FAM170A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000371126.1	NM_182761	
ZNF608	57507	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	123976977	123976977	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:123976977G>A	ENST00000306315.5	-	7	4853	c.4418C>T	c.(4417-4419)cCg>cTg	p.P1473L	ZNF608_ENST00000504926.1_Missense_Mutation_p.P1046L|ZNF608_ENST00000513985.1_5'UTR	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	1473							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)		CGGGATTAGCGGGTAACCCAT	0.537																																					p.P1473L		.											.	ZNF608-229	0			c.C4418T						.						198.0	192.0	194.0					5																	123976977		2203	4300	6503	SO:0001583	missense	57507	exon7			ATTAGCGGGTAAC	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.4418C>T	5.37:g.123976977G>A	ENSP00000307746:p.Pro1473Leu	135	0		136	64	NM_020747	0	0	8	10	2	A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Missense_Mutation	SNP	ENST00000306315.5	37	CCDS34219.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.809321	0.50421	.	.	ENSG00000168916	ENST00000504926;ENST00000306315	T;T	0.54071	0.59;0.6	5.4	5.4	0.78164	.	0.166180	0.56097	D	0.000037	T	0.70325	0.3211	M	0.65498	2.005	0.80722	D	1	D	0.76494	0.999	P	0.62014	0.897	T	0.72587	-0.4248	10	0.72032	D	0.01	-7.225	19.5297	0.95223	0.0:0.0:1.0:0.0	.	1473	Q9ULD9	ZN608_HUMAN	L	1046;1473	ENSP00000427657:P1046L;ENSP00000307746:P1473L	ENSP00000307746:P1473L	P	-	2	0	ZNF608	124004876	1.000000	0.71417	0.956000	0.39512	0.236000	0.25371	8.914000	0.92735	2.695000	0.91970	0.643000	0.83706	CCG	.		0.537	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	XM_114432	
SLC12A2	6558	broad.mit.edu;bcgsc.ca;mdanderson.org	37	5	127493843	127493843	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:127493843G>A	ENST00000262461.2	+	16	2651	c.2462G>A	c.(2461-2463)gGc>gAc	p.G821D	SLC12A2_ENST00000343225.4_Missense_Mutation_p.G821D	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	821					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|branching involved in mammary gland duct morphogenesis (GO:0060444)|chloride transmembrane transport (GO:1902476)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|gamma-aminobutyric acid signaling pathway (GO:0007214)|hyperosmotic response (GO:0006972)|ion transport (GO:0006811)|mammary duct terminal end bud growth (GO:0060763)|multicellular organism growth (GO:0035264)|positive regulation of cell volume (GO:0045795)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transepithelial ammonium transport (GO:0070634)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ammonium transmembrane transporter activity (GO:0008519)|sodium:potassium:chloride symporter activity (GO:0008511)			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)|Quinethazone(DB01325)	ATGATCTGTGGCCATGTACAT	0.343																																					p.G821D		.											.	SLC12A2-94	0			c.G2462A						.						122.0	111.0	114.0					5																	127493843		2203	4300	6503	SO:0001583	missense	6558	exon16			TCTGTGGCCATGT		CCDS4144.1, CCDS58965.1	5q23.3	2014-06-13	2013-07-18		ENSG00000064651	ENSG00000064651		"""Solute carriers"""	10911	protein-coding gene	gene with protein product	"""bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1"", ""basolateral Na-K-Cl symporter"", ""protein phosphatase 1, regulatory subunit 141"""	600840				7629105	Standard	NM_001256461		Approved	NKCC1, BSC, BSC2, PPP1R141	uc003kus.3	P55011	OTTHUMG00000128983	ENST00000262461.2:c.2462G>A	5.37:g.127493843G>A	ENSP00000262461:p.Gly821Asp	82	1		117	57	NM_001046	0	0	0	0	0	Q8N713|Q8WWH7	Missense_Mutation	SNP	ENST00000262461.2	37	CCDS4144.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.793557	0.90453	.	.	ENSG00000064651	ENST00000262461;ENST00000343225	D;D	0.95756	-3.8;-3.8	5.31	5.31	0.75309	.	0.053535	0.85682	D	0.000000	D	0.98321	0.9443	M	0.93638	3.44	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.998	D;D;P	0.68353	0.943;0.957;0.907	D	0.98974	1.0802	10	0.72032	D	0.01	.	19.1727	0.93585	0.0:0.0:1.0:0.0	.	821;35;821	P55011-3;Q59GB7;P55011	.;.;S12A2_HUMAN	D	821	ENSP00000262461:G821D;ENSP00000340878:G821D	ENSP00000262461:G821D	G	+	2	0	SLC12A2	127521742	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.956000	0.93066	2.779000	0.95612	0.655000	0.94253	GGC	.		0.343	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250972.1	NM_001046	
RAPGEF6	51735	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	130766961	130766961	+	Missense_Mutation	SNP	A	A	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:130766961A>T	ENST00000509018.1	-	26	4261	c.4056T>A	c.(4054-4056)caT>caA	p.H1352Q	RAPGEF6_ENST00000296859.6_Missense_Mutation_p.H1360Q|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.H1360Q|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.H1365Q|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.H1402Q	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1352	Ser-rich.				positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		CTATAATGATATGCTCTTGAG	0.443																																					p.H1365Q	Melanoma(168;435 1955 13113 13877 23213)	.											.	RAPGEF6-661	0			c.T4095A						.						87.0	88.0	88.0					5																	130766961		2203	4300	6503	SO:0001583	missense	51735	exon28			AATGATATGCTCT	AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 2"""	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.4056T>A	5.37:g.130766961A>T	ENSP00000421684:p.His1352Gln	70	0		67	33	NM_001164387	0	0	5	8	3	A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Missense_Mutation	SNP	ENST00000509018.1	37	CCDS34225.1	.	.	.	.	.	.	.	.	.	.	A	10.50	1.366312	0.24771	.	.	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000514667	T;T;T;T;T	0.25749	1.88;1.78;1.78;1.88;1.97	5.11	-1.84	0.07809	.	0.046479	0.85682	D	0.000000	T	0.22627	0.0546	L	0.55103	1.725	0.80722	D	1	P;B;B;B;B	0.47409	0.895;0.016;0.016;0.077;0.016	P;B;B;B;B	0.46452	0.517;0.019;0.019;0.131;0.019	T	0.34650	-0.9820	10	0.08179	T	0.78	.	11.3983	0.49856	0.2847:0.0:0.7153:0.0	.	1360;1360;1402;1365;1352	A3KN82;B7ZML2;E9PCH4;Q8TEU7-3;Q8TEU7	.;.;.;.;RPGF6_HUMAN	Q	1352;1365;1360;1360;1365;1402	ENSP00000421684:H1352Q;ENSP00000309298:H1365Q;ENSP00000426081:H1360Q;ENSP00000296859:H1360Q;ENSP00000426948:H1402Q	ENSP00000426948:H1402Q	H	-	3	2	RAPGEF6;FNIP1	130794860	0.998000	0.40836	0.117000	0.21633	0.973000	0.67179	0.466000	0.22019	-0.153000	0.11137	0.533000	0.62120	CAT	.		0.443	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340	
SOWAHA	134548	hgsc.bcm.edu	37	5	132149684	132149684	+	Missense_Mutation	SNP	G	G	C	rs40274	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:132149684G>C	ENST00000378693.2	+	1	652	c.371G>C	c.(370-372)cGg>cCg	p.R124P		NM_175873.4	NP_787069.3	Q2M3V2	SWAHA_HUMAN	sosondowah ankyrin repeat domain family member A	124	Pro-rich.		R -> P (in dbSNP:rs40274).														CCCTTGGTCCGGGTGCCGCGG	0.776																																					p.R124P		.											.	.	0			c.G371C						.	C	PRO/ARG	2599,13		1293,13,0	2.0	3.0	3.0		371	-0.3	0.0	5	dbSNP_76	3	6177,193		2993,191,1	no	missense	ANKRD43	NM_175873.4	103	4286,204,1	CC,CG,GG		3.0298,0.4977,2.2935	benign	124/550	132149684	8776,206	1306	3185	4491	SO:0001583	missense	134548	exon1			TGGTCCGGGTGCC	AK090823	CCDS43361.1	5q23.3	2013-01-10	2012-01-12	2012-01-12	ENSG00000198944	ENSG00000198944		"""Ankyrin repeat domain containing"""	27033	protein-coding gene	gene with protein product			"""ankyrin repeat domain 43"""	ANKRD43		22234889	Standard	NM_175873		Approved		uc003kxw.3	Q2M3V2	OTTHUMG00000059844	ENST00000378693.2:c.371G>C	5.37:g.132149684G>C	ENSP00000367965:p.Arg124Pro	0	0		13	13	NM_175873	0	0	0	0	0	Q8NAE7	Missense_Mutation	SNP	ENST00000378693.2	37	CCDS43361.1	2142	0.9807692307692307	482	0.9796747967479674	357	0.9861878453038674	562	0.9825174825174825	741	0.9775725593667546	c	9.833	1.188835	0.21954	0.995023	0.969702	ENSG00000198944	ENST00000378693	T	0.38077	1.16	4.27	-0.265	0.12946	.	2.345400	0.02245	N	0.066177	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.36261	-0.9755	9	0.30078	T	0.28	-5.2019	3.6102	0.08057	0.2245:0.4439:0.2467:0.085	rs40274	124	Q2M3V2	ANR43_HUMAN	P	124	ENSP00000367965:R124P	ENSP00000367965:R124P	R	+	2	0	ANKRD43	132177583	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.768000	0.01794	-0.003000	0.14444	-3.153000	0.00058	CGG	G|0.980;C|0.020		0.776	SOWAHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133062.1	NM_175873	
PCBD2	84105	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	134296370	134296370	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:134296370G>A	ENST00000512783.1	+	4	412	c.392G>A	c.(391-393)tGa>tAa	p.*131*	PCBD2_ENST00000254908.6_Silent_p.*131*			Q9H0N5	PHS2_HUMAN	pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1) 2	0					positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|protein homotetramerization (GO:0051289)|tetrahydrobiopterin biosynthetic process (GO:0006729)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	4-alpha-hydroxytetrahydrobiopterin dehydratase activity (GO:0008124)|phenylalanine 4-monooxygenase activity (GO:0004505)			kidney(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCTTCTGTGTGATTTCTTCCA	0.358																																					p.X131X		.											.	PCBD2-90	0			c.G392A						.						65.0	59.0	61.0					5																	134296370		1845	4101	5946	SO:0001819	synonymous_variant	84105	exon4			CTGTGTGATTTCT	AF499009	CCDS43364.1	5q31.1	2008-02-05	2006-01-10			ENSG00000132570			24474	protein-coding gene	gene with protein product		609836	"""6-pyruvoyl-tetrahydropterin synthase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1) 2"""			15182178, 11980910	Standard	NM_032151		Approved	DCOHM, DCOH2	uc010jdz.3	Q9H0N5		ENST00000512783.1:c.392G>A	5.37:g.134296370G>A		101	0		122	54	NM_032151	0	0	5	11	6	Q8TD40	Silent	SNP	ENST00000512783.1	37	CCDS43364.1																																																																																			.		0.358	PCBD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371578.1	NM_032151	
TGFBI	7045	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	135396593	135396593	+	Missense_Mutation	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:135396593T>C	ENST00000442011.2	+	14	2035	c.1874T>C	c.(1873-1875)gTc>gCc	p.V625A	TGFBI_ENST00000305126.8_Missense_Mutation_p.V625A|TGFBI_ENST00000508076.1_Missense_Mutation_p.V7A	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	625	FAS1 4. {ECO:0000255|PROSITE- ProRule:PRU00082}.		Missing (in lattice corneal dystrophy; unclassified form). {ECO:0000269|PubMed:15623763}.		angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AATGGCGTGGTCCATGTCATC	0.493																																					p.V625A		.											.	TGFBI-26	0			c.T1874C	GRCh37	CM074596	TGFBI	M		.						54.0	56.0	55.0					5																	135396593		2108	4221	6329	SO:0001583	missense	7045	exon14			GCGTGGTCCATGT	M77349	CCDS47266.1	5q31	2008-02-05	2002-08-29		ENSG00000120708	ENSG00000120708			11771	protein-coding gene	gene with protein product		601692	"""transforming growth factor, beta-induced, 68kD"""	CSD3, LCD1, CSD1, CSD2		9463327	Standard	NM_000358		Approved	BIGH3, CDB1, CDGG1	uc003lbf.4	Q15582	OTTHUMG00000163213	ENST00000442011.2:c.1874T>C	5.37:g.135396593T>C	ENSP00000416330:p.Val625Ala	402	1		452	177	NM_000358	0	0	83	87	4	D3DQB1|O14471|O14472|O14476|O43216|O43217|O43218|O43219|Q53XM1	Missense_Mutation	SNP	ENST00000442011.2	37	CCDS47266.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.82|15.82	2.945775|2.945775	0.53079|0.53079	.|.	.|.	ENSG00000120708|ENSG00000120708	ENST00000503087|ENST00000442011;ENST00000398813;ENST00000305126;ENST00000508076	.|D;D;T	.|0.93426	.|-3.22;-3.22;-0.88	6.07|6.07	6.07|6.07	0.98685|0.98685	.|FAS1 domain (5);	.|0.102514	.|0.64402	.|D	.|0.000003	D|D	0.95689|0.95689	0.8598|0.8598	M|M	0.74881|0.74881	2.28|2.28	0.51767|0.51767	D|D	0.999931|0.999931	.|B;P	.|0.38992	.|0.373;0.653	.|P;P	.|0.51918	.|0.684;0.684	D|D	0.95807|0.95807	0.8838|0.8838	5|10	.|0.87932	.|D	.|0	-18.8228|-18.8228	16.6277|16.6277	0.84984|0.84984	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|358;625	.|B9ZVW9;Q15582	.|.;BGH3_HUMAN	P|A	34|625;358;625;7	.|ENSP00000416330:V625A;ENSP00000306306:V625A;ENSP00000423935:V7A	.|ENSP00000306306:V625A	S|V	+|+	1|2	0|0	TGFBI|TGFBI	135424492|135424492	1.000000|1.000000	0.71417|0.71417	0.970000|0.970000	0.41538|0.41538	0.121000|0.121000	0.20230|0.20230	7.024000|7.024000	0.76443|0.76443	2.330000|2.330000	0.79161|0.79161	0.528000|0.528000	0.53228|0.53228	TCC|GTC	.		0.493	TGFBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372108.1		
TRPC7	57113	ucsc.edu;bcgsc.ca	37	5	135587359	135587359	+	Silent	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:135587359C>T	ENST00000513104.1	-	6	1839	c.1557G>A	c.(1555-1557)ccG>ccA	p.P519P	TRPC7_ENST00000355180.3_Silent_p.P458P|TRPC7_ENST00000426057.2_Silent_p.P403P	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	519					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ATGCCACTTCCGGCGGAAGCG	0.602																																					p.P519P		.											.	.	0			c.G1557A						.						40.0	43.0	42.0					5																	135587359		2152	4251	6403	SO:0001819	synonymous_variant	57113	exon6			CACTTCCGGCGGA	AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.1557G>A	5.37:g.135587359C>T		277	2		374	172	NM_020389	0	0	0	0	0	A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Silent	SNP	ENST00000513104.1	37	CCDS47267.2	.	.	.	.	.	.	.	.	.	.	C	3.666	-0.068459	0.07228	.	.	ENSG00000069018	ENST00000352189;ENST00000378459;ENST00000502753	.	.	.	5.21	1.13	0.20643	.	.	.	.	.	T	0.40570	0.1122	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.25012	-1.0144	4	.	.	.	-20.4327	0.5939	0.00733	0.3345:0.2933:0.1195:0.2527	.	.	.	.	R	403;458;464	.	.	G	-	1	0	TRPC7	135615258	0.004000	0.15560	1.000000	0.80357	0.040000	0.13550	-1.162000	0.03141	0.343000	0.23821	0.650000	0.86243	GGA	.		0.602	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1	NM_020389	
KDM3B	51780	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	137722268	137722268	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:137722268G>A	ENST00000314358.5	+	7	1538	c.1338G>A	c.(1336-1338)gtG>gtA	p.V446V	KDM3B_ENST00000394866.1_Silent_p.V102V|KDM3B_ENST00000542866.1_5'UTR	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	446					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						CAGGGACTGTGCCAGAAAAAC	0.562																																					p.V446V		.											.	KDM3B-542	0			c.G1338A						.						62.0	72.0	69.0					5																	137722268		2203	4300	6503	SO:0001819	synonymous_variant	51780	exon7			GACTGTGCCAGAA	AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"""Chromatin-modifying enzymes / K-demethylases"""	1337	protein-coding gene	gene with protein product		609373	"""chromosome 5 open reading frame 7"", ""jumonji domain containing 1B"""	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.1338G>A	5.37:g.137722268G>A		258	0		307	137	NM_016604	0	0	11	21	10	A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Silent	SNP	ENST00000314358.5	37	CCDS34242.1																																																																																			.		0.562	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1	NM_016604	
PROB1	389333	hgsc.bcm.edu;mdanderson.org	37	5	138728085	138728085	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:138728085C>T	ENST00000434752.2	-	1	2800	c.2686G>A	c.(2686-2688)Gcg>Acg	p.A896T	MZB1_ENST00000457570.2_5'Flank|MZB1_ENST00000302125.8_5'Flank|MZB1_ENST00000412103.2_5'Flank	NM_001161546.1	NP_001155018.1	E7EW31	PROB1_HUMAN	proline-rich basic protein 1	896	Pro-rich.																TGCCGCGGCGCCTCCACAAAG	0.736																																					p.A896T		.											.	.	0			c.G2686A						.						2.0	5.0	4.0					5																	138728085		442	1186	1628	SO:0001583	missense	389333	exon1			GCGGCGCCTCCAC	AK316483	CCDS54909.1	5q31.2	2012-10-01	2012-10-01	2012-10-01	ENSG00000228672	ENSG00000228672			41906	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 65"""	C5orf65			Standard	NM_001161546		Approved		uc011czc.1	E7EW31		ENST00000434752.2:c.2686G>A	5.37:g.138728085C>T	ENSP00000416033:p.Ala896Thr	11	0		55	21	NM_001161546	0	0	1	1	0	B4E007	Missense_Mutation	SNP	ENST00000434752.2	37	CCDS54909.1	.	.	.	.	.	.	.	.	.	.	c	19.16	3.773629	0.69992	.	.	ENSG00000228672	ENST00000434752	T	0.42513	0.97	4.07	4.07	0.47477	.	.	.	.	.	T	0.34832	0.0911	L	0.38838	1.175	0.22266	N	0.999249	P	0.49961	0.93	B	0.41646	0.362	T	0.14952	-1.0454	9	0.32370	T	0.25	.	14.1307	0.65253	0.0:1.0:0.0:0.0	.	896	E7EW31	CE065_HUMAN	T	896	ENSP00000416033:A896T	ENSP00000416033:A896T	A	-	1	0	AC135457.1	138755984	0.994000	0.37717	1.000000	0.80357	0.655000	0.38815	1.468000	0.35332	2.289000	0.77006	0.556000	0.70494	GCG	.		0.736	PROB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000470735.1	NM_001161546	
PCDHA7	56141	bcgsc.ca	37	5	140215497	140215497	+	Missense_Mutation	SNP	T	T	C	rs576159276		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:140215497T>C	ENST00000525929.1	+	1	1529	c.1529T>C	c.(1528-1530)gTg>gCg	p.V510A	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.V510A|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	510	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACGTGTCAGTGCACGCGGAG	0.701																																					p.V510A	NSCLC(160;258 2013 5070 22440 28951)	.											.	PCDHA7-94	0			c.T1529C						.						69.0	73.0	72.0					5																	140215497		2203	4296	6499	SO:0001583	missense	56141	exon1			TGTCAGTGCACGC	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.1529T>C	5.37:g.140215497T>C	ENSP00000436426:p.Val510Ala	97	2		405	181	NM_031852	0	0	1	3	2	O75282	Missense_Mutation	SNP	ENST00000525929.1	37	CCDS54918.1	.	.	.	.	.	.	.	.	.	.	T	15.25	2.778050	0.49786	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.68181	-0.31;-0.31	4.01	4.01	0.46588	Cadherin (4);Cadherin-like (1);	0.000000	0.29066	U	0.013244	D	0.85673	0.5751	H	0.94503	3.545	0.24325	N	0.99502	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	T	0.79586	-0.1742	10	0.87932	D	0	.	13.2918	0.60274	0.0:0.0:0.0:1.0	.	510;510	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	A	510	ENSP00000436426:V510A;ENSP00000367365:V510A	ENSP00000367365:V510A	V	+	2	0	PCDHA7	140195681	0.921000	0.31238	0.996000	0.52242	0.357000	0.29423	7.043000	0.76572	1.592000	0.50018	0.254000	0.18369	GTG	.		0.701	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910	
PCDHB2	56133	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	140475545	140475545	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:140475545C>T	ENST00000194155.4	+	1	1319	c.1171C>T	c.(1171-1173)Ctt>Ttt	p.L391F		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	391	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCAAGATGATCTTCCTTTTTT	0.483																																					p.L391F		.											.	PCDHB2-96	0			c.C1171T						.						105.0	95.0	99.0					5																	140475545		2203	4300	6503	SO:0001583	missense	56133	exon1			GATGATCTTCCTT	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"""Cadherins / Protocadherins : Clustered"""	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.1171C>T	5.37:g.140475545C>T	ENSP00000194155:p.Leu391Phe	227	0		292	138	NM_018936	0	0	1	1	0	Q4KMU1	Missense_Mutation	SNP	ENST00000194155.4	37	CCDS4244.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.305099	0.40795	.	.	ENSG00000112852	ENST00000194155	T	0.51817	0.69	5.15	2.13	0.27403	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.67767	0.2928	M	0.88377	2.95	0.22199	N	0.999297	D	0.71674	0.998	D	0.74348	0.983	T	0.54925	-0.8220	9	0.87932	D	0	.	5.3662	0.16115	0.0:0.486:0.287:0.2271	.	391	Q9Y5E7	PCDB2_HUMAN	F	391	ENSP00000194155:L391F	ENSP00000194155:L391F	L	+	1	0	PCDHB2	140455729	0.000000	0.05858	0.989000	0.46669	0.678000	0.39670	-0.441000	0.06879	0.638000	0.30545	0.655000	0.94253	CTT	.		0.483	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936	
PCDHB5	26167	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	140516394	140516394	+	Nonsense_Mutation	SNP	C	C	T	rs201677139		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:140516394C>T	ENST00000231134.5	+	1	1595	c.1378C>T	c.(1378-1380)Cga>Tga	p.R460*		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	460	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R460*(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGTTCGTCCGAGAGAACAA	0.617																																					p.R460X		.											.	PCDHB5-95	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1378T						.						114.0	106.0	109.0					5																	140516394		2202	4296	6498	SO:0001587	stop_gained	26167	exon1			TTCGTCCGAGAGA	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"""Cadherins / Protocadherins : Clustered"""	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.1378C>T	5.37:g.140516394C>T	ENSP00000231134:p.Arg460*	231	1		322	133	NM_015669	0	0	67	98	31	Q549F4|Q9UFU9	Nonsense_Mutation	SNP	ENST00000231134.5	37	CCDS4247.1	.	.	.	.	.	.	.	.	.	.	C	19.82	3.899141	0.72754	.	.	ENSG00000113209	ENST00000231134;ENST00000537936	.	.	.	4.81	2.92	0.33932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.1449	0.48424	0.134:0.6072:0.2588:0.0	.	.	.	.	X	460;244	.	ENSP00000231134:R460X	R	+	1	2	PCDHB5	140496578	0.000000	0.05858	0.005000	0.12908	0.362000	0.29581	-0.272000	0.08560	0.502000	0.28037	-0.314000	0.08810	CGA	C|0.998;G|0.001;T|0.001		0.617	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669	
PCDHB5	26167	hgsc.bcm.edu	37	5	140516906	140516906	+	Silent	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:140516906C>T	ENST00000231134.5	+	1	2107	c.1890C>T	c.(1888-1890)agC>agT	p.S630S		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	630	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCTGCTGAGCGAGCGCGACG	0.692																																					p.S630S		.											.	PCDHB5-95	0			c.C1890T						.						33.0	36.0	35.0					5																	140516906		2007	3990	5997	SO:0001819	synonymous_variant	26167	exon1			GCTGAGCGAGCGC	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"""Cadherins / Protocadherins : Clustered"""	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.1890C>T	5.37:g.140516906C>T		7	0		105	45	NM_015669	0	0	29	51	22	Q549F4|Q9UFU9	Silent	SNP	ENST00000231134.5	37	CCDS4247.1																																																																																			.		0.692	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669	
PCDHB6	56130	broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	140531452	140531452	+	Silent	SNP	G	G	A	rs539797733	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:140531452G>A	ENST00000231136.1	+	1	1614	c.1614G>A	c.(1612-1614)gcG>gcA	p.A538A	PCDHB6_ENST00000543635.1_Silent_p.A402A	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	538	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTCCCCGGCGTTGAGCAGCG	0.682																																					p.A538A		.											.	PCDHB6-91	0			c.G1614A						.						51.0	58.0	56.0					5																	140531452		2202	4300	6502	SO:0001819	synonymous_variant	56130	exon1			CCCGGCGTTGAGC	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.1614G>A	5.37:g.140531452G>A		137	1		514	223	NM_018939	0	0	0	0	0	B2R8R9	Silent	SNP	ENST00000231136.1	37	CCDS4248.1																																																																																			.		0.682	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939	
PCDHB7	56129	broad.mit.edu;bcgsc.ca;mdanderson.org	37	5	140554289	140554289	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:140554289C>T	ENST00000231137.3	+	1	2047	c.1873C>T	c.(1873-1875)Cgt>Tgt	p.R625C		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	625	Cadherin 6. {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(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGCGAGGTGCGTACCGCCAG	0.697																																					p.R625C		.											.	PCDHB7-95	0			c.C1873T						.						41.0	63.0	55.0					5																	140554289		2192	4284	6476	SO:0001583	missense	56129	exon1			GAGGTGCGTACCG	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1873C>T	5.37:g.140554289C>T	ENSP00000231137:p.Arg625Cys	44	1		289	60	NM_018940	0	0	1	1	0	A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	C	16.31	3.087283	0.55968	.	.	ENSG00000113212	ENST00000231137	T	0.52754	0.65	3.98	3.98	0.46160	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.74351	0.3705	M	0.94101	3.495	0.42862	D	0.994115	D	0.89917	1.0	D	0.87578	0.998	T	0.81468	-0.0919	9	0.72032	D	0.01	.	12.1735	0.54172	0.1717:0.8283:0.0:0.0	.	625	Q9Y5E2	PCDB7_HUMAN	C	625	ENSP00000231137:R625C	ENSP00000231137:R625C	R	+	1	0	PCDHB7	140534473	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.111000	0.41883	1.922000	0.55676	0.449000	0.29647	CGT	.		0.697	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940	
PCDHB13	56123	hgsc.bcm.edu	37	5	140595600	140595600	+	Silent	SNP	G	G	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:140595600G>C	ENST00000341948.4	+	1	2092	c.1905G>C	c.(1903-1905)gcG>gcC	p.A635A		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	635	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGCGCGACGCGGCCAAGCACA	0.692																																					p.A635A		.											.	PCDHB13-93	0			c.G1905C						.						16.0	18.0	17.0					5																	140595600		1664	3483	5147	SO:0001819	synonymous_variant	56123	exon1			CGACGCGGCCAAG	AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"""Cadherins / Protocadherins : Clustered"""	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.1905G>C	5.37:g.140595600G>C		5	0		130	51	NM_018933	0	0	26	34	8	A8K9V6	Silent	SNP	ENST00000341948.4	37	CCDS4255.1																																																																																			.		0.692	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	NM_018933	
PCDHGA3	56112	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	140724077	140724077	+	Silent	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:140724077C>T	ENST00000253812.6	+	1	477	c.477C>T	c.(475-477)gaC>gaT	p.D159D	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	159	Cadherin 2. {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)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCTTTTGACCCAGATGTAG	0.433																																					p.D159D		.											.	PCDHGA3-68	0			c.C477T						.						77.0	75.0	76.0					5																	140724077		1895	4123	6018	SO:0001819	synonymous_variant	56112	exon1			TTTTGACCCAGAT	AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"""Cadherins / Protocadherins : Clustered"""	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.477C>T	5.37:g.140724077C>T		63	1		92	38	NM_032011	0	0	0	3	3	Q9Y5D4	Silent	SNP	ENST00000253812.6	37	CCDS47290.1																																																																																			.		0.433	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916	
PCDHGB6	56100	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	140789294	140789294	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:140789294G>A	ENST00000520790.1	+	1	1525	c.1525G>A	c.(1525-1527)Gcg>Acg	p.A509T	PCDHGB3_ENST00000576222.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6	509	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)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCAGTGAGCGCGCAGAGCGG	0.662																																					p.A509T		.											.	.	0			c.G1525A						.						20.0	23.0	22.0					5																	140789294		2027	4177	6204	SO:0001583	missense	56100	exon1			GTGAGCGCGCAGA	AF152522	CCDS54929.1, CCDS75342.1	5q31	2010-01-26				ENSG00000253305		"""Cadherins / Protocadherins : Clustered"""	8713	other	protocadherin		606303				10380929	Standard	NM_018926		Approved	PCDH-GAMMA-B6		Q9Y5F9		ENST00000520790.1:c.1525G>A	5.37:g.140789294G>A	ENSP00000428603:p.Ala509Thr	96	1		192	82	NM_032100	0	0	1	1	0	Q9Y5C5	Missense_Mutation	SNP	ENST00000520790.1	37	CCDS54929.1	.	.	.	.	.	.	.	.	.	.	g	13.76	2.334474	0.41297	.	.	ENSG00000253305	ENST00000520790	T	0.47869	0.83	5.36	-1.67	0.08238	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.31918	0.0812	N	0.16037	0.36	0.09310	N	1	P;P	0.51791	0.948;0.887	P;B	0.49276	0.605;0.375	T	0.20107	-1.0285	9	0.66056	D	0.02	.	3.7895	0.08715	0.1229:0.4071:0.2629:0.207	.	509;509	Q9Y5F9;Q9Y5F9-2	PCDGI_HUMAN;.	T	509	ENSP00000428603:A509T	ENSP00000428603:A509T	A	+	1	0	PCDHGB6	140769478	0.000000	0.05858	0.796000	0.32109	0.143000	0.21401	-2.572000	0.00912	-0.039000	0.13602	0.462000	0.41574	GCG	.		0.662	PCDHGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374746.1	NM_018926	
RELL2	285613	hgsc.bcm.edu;bcgsc.ca	37	5	141017910	141017912	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	AAG	AAG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:141017910_141017912delAAG	ENST00000297164.3	+	1	1318_1320	c.118_120delAAG	c.(118-120)aagdel	p.K42del	FCHSD1_ENST00000523856.1_5'Flank|RELL2_ENST00000521367.1_Intron|RELL2_ENST00000518856.1_Intron|HDAC3_ENST00000305264.3_5'Flank|RELL2_ENST00000444782.1_In_Frame_Del_p.K42del|RELL2_ENST00000518025.1_3'UTR	NM_173828.4	NP_776189.3	Q8NC24	RELL2_HUMAN	RELT-like 2	42					positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCACGTGCTCAAGAAGAAGGGCT	0.596																																					p.40_40del		.											.	RELL2-90	0			c.118_120del						.																																			SO:0001651	inframe_deletion	285613	exon1			GTGCTCAAGAAGA	AK054889	CCDS4265.1	5q31.3	2011-10-11	2007-06-15	2007-06-15	ENSG00000164620	ENSG00000164620			26902	protein-coding gene	gene with protein product		611213	"""chromosome 5 open reading frame 16"""	C5orf16		12975309, 16389068	Standard	NM_173828		Approved	FLJ90583	uc003lli.3	Q8NC24	OTTHUMG00000129612	ENST00000297164.3:c.118_120delAAG	5.37:g.141017916_141017918delAAG	ENSP00000297164:p.Lys42del	95	1		106	35	NM_173828	0	0	0	0	0	D3DQE2|Q6P4E7|Q6UXY2	In_Frame_Del	DEL	ENST00000297164.3	37	CCDS4265.1																																																																																			.		0.596	RELL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251807.2	NM_173828	
NR3C1	2908	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	142662181	142662181	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:142662181G>A	ENST00000343796.2	-	8	3126	c.2133C>T	c.(2131-2133)aaC>aaT	p.N711N	NR3C1_ENST00000416954.2_Silent_p.N314N|NR3C1_ENST00000415690.2_Silent_p.N711N|NR3C1_ENST00000394464.2_Silent_p.N711N|NR3C1_ENST00000231509.3_Silent_p.N712N|NR3C1_ENST00000503201.1_Silent_p.N711N|NR3C1_ENST00000504572.1_Silent_p.N712N|NR3C1_ENST00000394466.2_Silent_p.N712N|NR3C1_ENST00000424646.2_Silent_p.N685N	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	711	Interaction with CLOCK.|Steroid-binding.				adrenal gland development (GO:0030325)|chromatin modification (GO:0016568)|gene expression (GO:0010467)|glucocorticoid metabolic process (GO:0008211)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of glucocorticoid mediated signaling pathway (GO:1900170)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucocorticoid biosynthetic process (GO:0031946)|regulation of gluconeogenesis (GO:0006111)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	glucocorticoid receptor activity (GO:0004883)|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 transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|zinc ion binding (GO:0008270)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Budesonide(DB01222)|Ciclesonide(DB01410)|Clobetasol propionate(DB01013)|Clocortolone(DB00838)|Cortisone acetate(DB01380)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Difluprednate(DB06781)|Fludrocortisone(DB00687)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Fluoxymesterone(DB01185)|Flurandrenolide(DB00846)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol(DB00873)|Medrysone(DB00253)|Megestrol acetate(DB00351)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Paramethasone(DB01384)|Prednicarbate(DB01130)|Prednisolone(DB00860)|Prednisone(DB00635)|Rimexolone(DB00896)|Spironolactone(DB00421)|Triamcinolone(DB00620)	ACCGCTGCCAGTTCTGGCTGG	0.398																																					p.N712N		.											.	NR3C1-92	0			c.C2136T						.						139.0	134.0	136.0					5																	142662181		2203	4300	6503	SO:0001819	synonymous_variant	2908	exon8			CTGCCAGTTCTGG	X03225	CCDS4278.1, CCDS34258.1, CCDS47298.1	5q31-q32	2013-01-16	2002-08-27		ENSG00000113580	ENSG00000113580		"""Nuclear hormone receptors"""	7978	protein-coding gene	gene with protein product		138040	"""nuclear receptor subfamily 3, group C, member 1"""	GRL		2867473	Standard	NM_001204258		Approved	GR	uc003lnb.3	P04150	OTTHUMG00000129677	ENST00000343796.2:c.2133C>T	5.37:g.142662181G>A		56	0		52	17	NM_001024094	0	0	12	29	17	A0ZXF9|B0LPG8|D3DQF4|P04151|Q53EP5|Q6N0A4	Silent	SNP	ENST00000343796.2	37	CCDS4278.1																																																																																			.		0.398	NR3C1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370829.1		
GRXCR2	643226	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	145246099	145246099	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:145246099C>T	ENST00000377976.1	-	2	528	c.529G>A	c.(529-531)Gca>Aca	p.A177T		NM_001080516.1	NP_001073985.1	A6NFK2	GRCR2_HUMAN	glutaredoxin, cysteine rich 2	177						cell projection (GO:0042995)				breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						GTGCTTTCTGCCTCCACCAAA	0.527																																					p.A177T		.											.	GRXCR2-22	0			c.G529A						.						164.0	157.0	159.0					5																	145246099		2203	4300	6503	SO:0001583	missense	643226	exon2			TTTCTGCCTCCAC		CCDS34263.1	5q32	2014-03-14			ENSG00000204928	ENSG00000204928			33862	protein-coding gene	gene with protein product		615762				24619944	Standard	NM_001080516		Approved	DFNB101	uc003lns.1	A6NFK2	OTTHUMG00000163417	ENST00000377976.1:c.529G>A	5.37:g.145246099C>T	ENSP00000367214:p.Ala177Thr	58	0		105	20	NM_001080516	0	0	0	0	0		Missense_Mutation	SNP	ENST00000377976.1	37	CCDS34263.1	.	.	.	.	.	.	.	.	.	.	C	10.70	1.423112	0.25639	.	.	ENSG00000204928	ENST00000377976	T	0.55930	0.49	5.21	-4.17	0.03857	.	1.272570	0.05005	N	0.469829	T	0.33294	0.0858	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.26883	-1.0090	10	0.48119	T	0.1	-19.8894	4.0278	0.09695	0.1299:0.4927:0.1323:0.2451	.	177	A6NFK2	GRCR2_HUMAN	T	177	ENSP00000367214:A177T	ENSP00000367214:A177T	A	-	1	0	GRXCR2	145226292	0.000000	0.05858	0.030000	0.17652	0.027000	0.11550	-0.854000	0.04299	-0.309000	0.08779	0.462000	0.41574	GCA	.		0.527	GRXCR2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373289.2		
RBM27	54439	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	145634509	145634509	+	Missense_Mutation	SNP	C	C	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:145634509C>A	ENST00000265271.5	+	10	1614	c.1448C>A	c.(1447-1449)aCa>aAa	p.T483K	RBM27_ENST00000506502.1_Missense_Mutation_p.T428K	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	483					mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCTCAGATACATATGAACCA	0.368																																					p.T483K		.											.	RBM27-70	0			c.C1448A						.						94.0	82.0	86.0					5																	145634509		1568	3582	5150	SO:0001583	missense	54439	exon10			CAGATACATATGA	AL833706	CCDS43378.1	5q32	2013-01-09				ENSG00000091009		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	29243	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 1"""					10718198, 15741184	Standard	NM_018989		Approved	KIAA1311, ARRS1, Psc1, ZC3H18	uc003lnz.4	Q9P2N5		ENST00000265271.5:c.1448C>A	5.37:g.145634509C>A	ENSP00000265271:p.Thr483Lys	68	0		69	21	NM_018989	0	0	0	0	0	Q8IYW9	Missense_Mutation	SNP	ENST00000265271.5	37	CCDS43378.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.129605	0.77549	.	.	ENSG00000091009	ENST00000265271	T	0.49432	0.78	5.23	5.23	0.72850	.	0.000000	0.64402	D	0.000001	T	0.57592	0.2064	L	0.32530	0.975	0.41943	D	0.99062	P;D	0.71674	0.895;0.998	B;D	0.76071	0.354;0.987	T	0.48614	-0.9020	10	0.15952	T	0.53	-13.0871	19.1633	0.93543	0.0:1.0:0.0:0.0	.	483;428	Q9P2N5;B3KY61	RBM27_HUMAN;.	K	483	ENSP00000265271:T483K	ENSP00000265271:T483K	T	+	2	0	RBM27	145614702	0.997000	0.39634	0.971000	0.41717	0.972000	0.66771	3.554000	0.53720	2.601000	0.87937	0.650000	0.86243	ACA	.		0.368	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373420.1	XM_291128	
RBM27	54439	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	145647328	145647328	+	Missense_Mutation	SNP	A	A	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:145647328A>C	ENST00000265271.5	+	15	2614	c.2448A>C	c.(2446-2448)aaA>aaC	p.K816N	RBM27_ENST00000506502.1_Missense_Mutation_p.K761N	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	816					mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTAAAAAAAAACAGGTAACAG	0.358																																					p.K816N		.											.	RBM27-70	0			c.A2448C						.						81.0	74.0	76.0					5																	145647328		1568	3582	5150	SO:0001583	missense	54439	exon15			AAAAAAACAGGTA	AL833706	CCDS43378.1	5q32	2013-01-09				ENSG00000091009		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	29243	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 1"""					10718198, 15741184	Standard	NM_018989		Approved	KIAA1311, ARRS1, Psc1, ZC3H18	uc003lnz.4	Q9P2N5		ENST00000265271.5:c.2448A>C	5.37:g.145647328A>C	ENSP00000265271:p.Lys816Asn	241	1		272	115	NM_018989	0	0	0	0	0	Q8IYW9	Missense_Mutation	SNP	ENST00000265271.5	37	CCDS43378.1	.	.	.	.	.	.	.	.	.	.	A	15.79	2.936437	0.52972	.	.	ENSG00000091009	ENST00000265271	T	0.56776	0.44	5.01	1.54	0.23209	.	0.000000	0.85682	D	0.000000	T	0.63757	0.2538	L	0.58101	1.795	0.53005	D	0.999969	P;D	0.71674	0.839;0.998	B;D	0.76071	0.264;0.987	T	0.61831	-0.6982	10	0.87932	D	0	-16.5237	8.895	0.35458	0.4271:0.0:0.5729:0.0	.	816;761	Q9P2N5;B3KY61	RBM27_HUMAN;.	N	816	ENSP00000265271:K816N	ENSP00000265271:K816N	K	+	3	2	RBM27	145627521	0.996000	0.38824	1.000000	0.80357	0.557000	0.35523	0.377000	0.20552	0.102000	0.17638	0.383000	0.25322	AAA	.		0.358	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373420.1	XM_291128	
TCERG1	10915	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	145834680	145834680	+	Nonsense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:145834680C>T	ENST00000296702.5	+	2	159	c.121C>T	c.(121-123)Cga>Tga	p.R41*	TCERG1_ENST00000394421.2_Nonsense_Mutation_p.R41*	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	41	Pro-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGCAGTGATGCGAGGCCCACC	0.562																																					p.R41X		.											.	TCERG1-92	0			c.C121T						.						97.0	96.0	96.0					5																	145834680		2203	4300	6503	SO:0001587	stop_gained	10915	exon2			GTGATGCGAGGCC	AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"""transcription factor CA150"", ""co-activator of 150 kDa"", ""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"", ""TATA box-binding protein-associated factor 2S"""	605409	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"""	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.121C>T	5.37:g.145834680C>T	ENSP00000296702:p.Arg41*	115	0		140	66	NM_006706	0	0	5	7	2	Q2NKN2|Q59EA1	Nonsense_Mutation	SNP	ENST00000296702.5	37	CCDS4282.1	.	.	.	.	.	.	.	.	.	.	C	32	5.129350	0.94473	.	.	ENSG00000113649	ENST00000296702;ENST00000394421	.	.	.	5.4	4.5	0.54988	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.8603	13.4308	0.61053	0.3519:0.6481:0.0:0.0	.	.	.	.	X	41	.	ENSP00000296702:R41X	R	+	1	2	TCERG1	145814873	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.895000	0.28363	2.814000	0.96858	0.563000	0.77884	CGA	.		0.562	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006	
TCERG1	10915	hgsc.bcm.edu	37	5	145838674	145838674	+	Silent	SNP	A	A	G	rs111879925		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:145838674A>G	ENST00000296702.5	+	4	704	c.666A>G	c.(664-666)caA>caG	p.Q222Q	TCERG1_ENST00000394421.2_Silent_p.Q222Q	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	222	Ala/Gln-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			cccaggcccaagcccaagccc	0.716																																					p.Q222Q		.											.	TCERG1-92	0			c.A666G						.						14.0	18.0	17.0					5																	145838674		2201	4297	6498	SO:0001819	synonymous_variant	10915	exon4			GGCCCAAGCCCAA	AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"""transcription factor CA150"", ""co-activator of 150 kDa"", ""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"", ""TATA box-binding protein-associated factor 2S"""	605409	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"""	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.666A>G	5.37:g.145838674A>G		48	0		157	15	NM_006706	0	0	14	14	0	Q2NKN2|Q59EA1	Silent	SNP	ENST00000296702.5	37	CCDS4282.1																																																																																			A|0.500;G|0.500		0.716	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006	
TCERG1	10915	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	145849290	145849290	+	Missense_Mutation	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:145849290A>G	ENST00000296702.5	+	7	1420	c.1382A>G	c.(1381-1383)cAa>cGa	p.Q461R	TCERG1_ENST00000394421.2_Missense_Mutation_p.Q440R	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	461	Glu-rich.|WW 2. {ECO:0000255|PROSITE- ProRule:PRU00224}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAAAAACCCCAAGAACTAAAG	0.308																																					p.Q461R		.											.	TCERG1-92	0			c.A1382G						.						45.0	54.0	51.0					5																	145849290		2193	4291	6484	SO:0001583	missense	10915	exon7			AACCCCAAGAACT	AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"""transcription factor CA150"", ""co-activator of 150 kDa"", ""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"", ""TATA box-binding protein-associated factor 2S"""	605409	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"""	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.1382A>G	5.37:g.145849290A>G	ENSP00000296702:p.Gln461Arg	47	0		37	11	NM_006706	0	0	5	14	9	Q2NKN2|Q59EA1	Missense_Mutation	SNP	ENST00000296702.5	37	CCDS4282.1	.	.	.	.	.	.	.	.	.	.	A	12.18	1.859123	0.32884	.	.	ENSG00000113649	ENST00000296702;ENST00000394421	T;T	0.77620	-1.11;-1.11	5.71	5.71	0.89125	WW/Rsp5/WWP (4);	0.331876	0.33496	N	0.004853	T	0.65428	0.2690	N	0.21508	0.67	0.46521	D	0.999083	B;B;B	0.27732	0.118;0.187;0.118	B;B;B	0.24701	0.037;0.055;0.025	T	0.61969	-0.6953	10	0.18276	T	0.48	-19.4642	15.979	0.80091	1.0:0.0:0.0:0.0	.	440;440;461	B7Z921;O14776-2;O14776	.;.;TCRG1_HUMAN	R	461;440	ENSP00000296702:Q461R;ENSP00000377943:Q440R	ENSP00000296702:Q461R	Q	+	2	0	TCERG1	145829483	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.751000	0.68720	2.182000	0.69389	0.460000	0.39030	CAA	.		0.308	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006	
FBXO38	81545	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	147805102	147805102	+	Missense_Mutation	SNP	C	C	T	rs144744644		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:147805102C>T	ENST00000340253.5	+	14	1924	c.1756C>T	c.(1756-1758)Cgt>Tgt	p.R586C	FBXO38_ENST00000296701.6_Missense_Mutation_p.R586C|FBXO38_ENST00000513826.1_Missense_Mutation_p.R586C|FBXO38_ENST00000394370.3_Missense_Mutation_p.R586C			Q6PIJ6	FBX38_HUMAN	F-box protein 38	586					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTCTTCAGCGTGTAGTAAA	0.408																																					p.R586C		.											.	FBXO38-231	0			c.C1756T						.	C	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	120.0	118.0	119.0		1756,1756	5.8	1.0	5	dbSNP_134	119	0,8600		0,0,4300	no	missense,missense	FBXO38	NM_030793.3,NM_205836.1	180,180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	586/1114,586/1189	147805102	1,13005	2203	4300	6503	SO:0001583	missense	81545	exon14			CTTCAGCGTGTAG	BC005873	CCDS43384.1, CCDS64285.1	5q33.1	2008-02-05			ENSG00000145868	ENSG00000145868		"""F-boxes /  ""other"""""	28844	protein-coding gene	gene with protein product		608533				12477932	Standard	NM_030793		Approved	MOKA, SP329, FLJ13962, Fbx38	uc003lpg.2	Q6PIJ6	OTTHUMG00000129929	ENST00000340253.5:c.1756C>T	5.37:g.147805102C>T	ENSP00000342023:p.Arg586Cys	135	0		160	75	NM_001271723	0	0	20	32	12	Q6PK72|Q7Z2U0|Q86VN3|Q9BXY6|Q9H837|Q9HC40	Missense_Mutation	SNP	ENST00000340253.5	37		.	.	.	.	.	.	.	.	.	.	C	23.7	4.443720	0.83993	2.27E-4	0.0	ENSG00000145868	ENST00000340253;ENST00000296701;ENST00000394370;ENST00000513826	T;T;T;T	0.33654	1.4;1.44;1.4;1.44	5.76	5.76	0.90799	.	0.222455	0.48767	D	0.000169	T	0.31104	0.0786	N	0.08118	0	0.58432	D	0.999995	D;P;P	0.65815	0.995;0.923;0.923	P;B;B	0.48982	0.597;0.365;0.276	T	0.25916	-1.0118	10	0.66056	D	0.02	-15.312	18.9061	0.92462	0.0:1.0:0.0:0.0	.	586;586;586	Q6PIJ6-3;Q6PIJ6-2;Q6PIJ6	.;.;FBX38_HUMAN	C	586	ENSP00000342023:R586C;ENSP00000296701:R586C;ENSP00000377895:R586C;ENSP00000426410:R586C	ENSP00000296701:R586C	R	+	1	0	FBXO38	147785295	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.379000	0.52440	2.880000	0.98712	0.650000	0.86243	CGT	C|1.000;T|0.000		0.408	FBXO38-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252185.2	NM_030793	
PPARGC1B	133522	broad.mit.edu	37	5	149213123	149213123	+	Missense_Mutation	SNP	C	C	T	rs201665839		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:149213123C>T	ENST00000309241.5	+	5	1519	c.1487C>T	c.(1486-1488)cCg>cTg	p.P496L	PPARGC1B_ENST00000403750.1_Missense_Mutation_p.P432L|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.P496L|PPARGC1B_ENST00000360453.4_Missense_Mutation_p.P457L	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	496					actin filament organization (GO:0007015)|bone trabecula formation (GO:0060346)|cellular lipid metabolic process (GO:0044255)|cellular response to reactive oxygen species (GO:0034614)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of phosphorylation (GO:0042327)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transcription from mitochondrial promoter (GO:0006390)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-2 domain binding (GO:0050682)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|receptor activator activity (GO:0030546)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GCAGATGAGCCGCTGGTCCCC	0.667																																					p.P496L		.											.	PPARGC1B-186	0			c.C1487T						.						29.0	32.0	31.0					5																	149213123		2194	4297	6491	SO:0001583	missense	133522	exon5			ATGAGCCGCTGGT	AF468496	CCDS4298.1, CCDS54933.1, CCDS54934.1	5q33.1	2013-02-12	2006-10-17		ENSG00000155846	ENSG00000155846		"""RNA binding motif (RRM) containing"""	30022	protein-coding gene	gene with protein product		608886	"""peroxisome proliferative activated receptor, gamma, coactivator 1, beta"""			11793024, 11854298	Standard	NM_133263		Approved	PERC, PGC1B	uc003lrc.3	Q86YN6	OTTHUMG00000130055	ENST00000309241.5:c.1487C>T	5.37:g.149213123C>T	ENSP00000312649:p.Pro496Leu	168	0		225	6	NM_133263	0	0	5	5	0	A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5	Missense_Mutation	SNP	ENST00000309241.5	37	CCDS4298.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	5.986	0.365916	0.11352	.	.	ENSG00000155846	ENST00000360453;ENST00000394320;ENST00000309241;ENST00000403750	T;T;T;T	0.09255	3.0;3.0;3.02;3.0	4.66	3.73	0.42828	.	1.107920	0.06696	N	0.770607	T	0.12050	0.0293	L	0.40543	1.245	0.09310	N	1	B;B;B;B;B	0.16396	0.017;0.006;0.017;0.01;0.01	B;B;B;B;B	0.14578	0.011;0.003;0.011;0.005;0.006	T	0.30297	-0.9983	10	0.87932	D	0	-0.0259	9.0666	0.36467	0.0:0.8861:0.0:0.1139	.	475;475;457;496;496	Q86YN6-2;Q86YN6-4;Q86YN6-5;Q86YN6;Q86YN6-3	.;.;.;PRGC2_HUMAN;.	L	457;496;496;432	ENSP00000353638:P457L;ENSP00000377855:P496L;ENSP00000312649:P496L;ENSP00000384403:P432L	ENSP00000312649:P496L	P	+	2	0	PPARGC1B	149193316	0.004000	0.15560	0.006000	0.13384	0.059000	0.15707	1.782000	0.38654	0.930000	0.37217	0.561000	0.74099	CCG	C|0.999;T|0.000		0.667	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252334.1	NM_133263	
PDGFRB	5159	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	149510124	149510124	+	Missense_Mutation	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:149510124A>G	ENST00000261799.4	-	9	1814	c.1345T>C	c.(1345-1347)Tct>Cct	p.S449P		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	449	Ig-like C2-type 5.				adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTGCAGGCAGACCAGATGATG	0.607			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""						OREG0016927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.S449P		.		Dom	yes		5	5q31-q32	5159	"""platelet-derived growth factor receptor, beta polypeptide"""		L	.	PDGFRB-1499	0			c.T1345C						.						102.0	112.0	108.0					5																	149510124		2203	4300	6503	SO:0001583	missense	5159	exon9			AGGCAGACCAGAT	M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.1345T>C	5.37:g.149510124A>G	ENSP00000261799:p.Ser449Pro	49	0	1725	64	27	NM_002609	1	0	74	75	0	B5A957|Q8N5L4	Missense_Mutation	SNP	ENST00000261799.4	37	CCDS4303.1	.	.	.	.	.	.	.	.	.	.	A	17.69	3.451272	0.63290	.	.	ENSG00000113721	ENST00000261799;ENST00000544453	T	0.76186	-1.0	4.87	4.87	0.63330	.	0.354353	0.24566	N	0.037426	T	0.68100	0.2964	L	0.47716	1.5	0.45806	D	0.998684	P;P	0.50710	0.592;0.938	B;B	0.40410	0.195;0.328	T	0.72020	-0.4416	10	0.51188	T	0.08	.	14.486	0.67616	1.0:0.0:0.0:0.0	.	449;449	A8KAM8;P09619	.;PGFRB_HUMAN	P	449;119	ENSP00000261799:S449P	ENSP00000261799:S449P	S	-	1	0	PDGFRB	149490317	1.000000	0.71417	0.988000	0.46212	0.863000	0.49368	5.131000	0.64751	1.825000	0.53177	0.379000	0.24179	TCT	.		0.607	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1	NM_002609	
GALNT10	55568	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	5	153760166	153760166	+	Frame_Shift_Del	DEL	A	A	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:153760166delA	ENST00000297107.6	+	6	1050	c.913delA	c.(913-915)aaafs	p.K305fs	GALNT10_ENST00000425427.2_Frame_Shift_Del_p.K305fs|GALNT10_ENST00000377661.2_Frame_Shift_Del_p.K243fs|GALNT10_ENST00000519544.1_3'UTR|SAP30L-AS1_ENST00000519727.1_RNA	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	polypeptide N-acetylgalactosaminyltransferase 10	305					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(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			AGAACTGCAGAAAGCTGACCC	0.567																																					p.K305fs		.											.	GALNT10-92	0			c.913delA						.						89.0	87.0	88.0					5																	153760166		2203	4300	6503	SO:0001589	frameshift_variant	55568	exon6			CTGCAGAAAGCTG	AK023782	CCDS4325.1	5q34	2014-03-13	2014-03-13		ENSG00000164574	ENSG00000164574	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19873	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 10"""	608043	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)"""			12417297	Standard	NM_198321		Approved	GalNAc-T10	uc003lvh.3	Q86SR1	OTTHUMG00000130145	ENST00000297107.6:c.913delA	5.37:g.153760166delA	ENSP00000297107:p.Lys305fs	88	0		129	61	NM_198321	0	0	0	0	0	B3KXC9|Q6IN56|Q86VP8|Q8IXJ2|Q8TEJ2|Q96IV2|Q9H8E1|Q9Y4M4	Frame_Shift_Del	DEL	ENST00000297107.6	37	CCDS4325.1																																																																																			.		0.567	GALNT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252453.1	NM_198321	
LARP1	23367	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	5	154173383	154173383	+	Frame_Shift_Del	DEL	C	C	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:154173383delC	ENST00000336314.4	+	6	685	c.661delC	c.(661-663)cccfs	p.P221fs		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	298					cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CACCTACGTGCCCGTGGCCCC	0.632																																					p.P221fs		.											.	LARP1-94	0			c.661delC						.						96.0	111.0	106.0					5																	154173383		2203	4300	6503	SO:0001589	frameshift_variant	23367	exon6			TACGTGCCCGTGG	AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"""La ribonucleoprotein domain containing"""	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.661delC	5.37:g.154173383delC	ENSP00000336721:p.Pro221fs	85	0		115	45	NM_015315	0	0	0	0	0	O94836|Q8N4M2|Q8NB73|Q9UFD7	Frame_Shift_Del	DEL	ENST00000336314.4	37	CCDS4328.1																																																																																			.		0.632	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1	NM_033551	
LARP1	23367	hgsc.bcm.edu	37	5	154173385	154173390	+	In_Frame_Del	DEL	CGTGGC	CGTGGC	-	rs2276325	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	CGTGGC	CGTGGC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:154173385_154173390delCGTGGC	ENST00000336314.4	+	6	687_692	c.663_668delCGTGGC	c.(661-669)cccgtggcc>ccc	p.VA222del		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	299					cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)	p.T303fs*19(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CCTACGTGCCCGTGGCCCCCCCCACC	0.636																																					p.221_223del		.											.	LARP1-94	1	Insertion - Frameshift(1)	large_intestine(1)	c.663_668del						.																																			SO:0001651	inframe_deletion	23367	exon6			CGTGCCCGTGGCC	AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"""La ribonucleoprotein domain containing"""	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.663_668delCGTGGC	5.37:g.154173385_154173390delCGTGGC	ENSP00000336721:p.Val222_Ala223del	86	0		117	0	NM_015315	0	0	0	0	0	O94836|Q8N4M2|Q8NB73|Q9UFD7	In_Frame_Del	DEL	ENST00000336314.4	37	CCDS4328.1																																																																																			.		0.636	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1	NM_033551	
LARP1	23367	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	5	154173390	154173390	+	Frame_Shift_Del	DEL	C	C	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:154173390delC	ENST00000336314.4	+	6	692	c.668delC	c.(667-669)gccfs	p.A223fs		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	300					cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)	p.T303fs*19(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GTGCCCGTGGCCCCCCCCACC	0.642																																					p.A223fs		.											.	LARP1-94	1	Insertion - Frameshift(1)	large_intestine(1)	c.668delC						.						87.0	103.0	98.0					5																	154173390		2203	4300	6503	SO:0001589	frameshift_variant	23367	exon6			CCGTGGCCCCCCC	AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"""La ribonucleoprotein domain containing"""	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.668delC	5.37:g.154173390delC	ENSP00000336721:p.Ala223fs	81	0		118	46	NM_015315	0	0	0	0	0	O94836|Q8N4M2|Q8NB73|Q9UFD7	Frame_Shift_Del	DEL	ENST00000336314.4	37	CCDS4328.1																																																																																			.		0.642	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1	NM_033551	
CNOT8	9337	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	154254927	154254927	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:154254927G>A	ENST00000517876.1	+	8	1283	c.807G>A	c.(805-807)aaG>aaA	p.K269K	CNOT8_ENST00000519404.1_Silent_p.K215K|CNOT8_ENST00000521583.1_Silent_p.K163K|CNOT8_ENST00000403027.2_Silent_p.K269K|CNOT8_ENST00000285896.6_Silent_p.K269K|CNOT8_ENST00000520671.1_Silent_p.K163K|CNOT8_ENST00000521450.1_Silent_p.K163K|CNOT8_ENST00000523698.1_Silent_p.K163K|CNOT8_ENST00000524105.1_Silent_p.K105K			Q9UFF9	CNOT8_HUMAN	CCR4-NOT transcription complex, subunit 8	269					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|gene silencing by miRNA (GO:0035195)|mRNA metabolic process (GO:0016071)|negative regulation of cell proliferation (GO:0008285)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TGGCCCAGAAGCAGAATGAGG	0.542																																					p.K269K	NSCLC(140;1804 1895 27149 29895 35312)	.											.	CNOT8-90	0			c.G807A						.						142.0	117.0	126.0					5																	154254927		2203	4300	6503	SO:0001819	synonymous_variant	9337	exon7			CCAGAAGCAGAAT	AF053318	CCDS4329.1, CCDS75361.1	5q31-q33	2008-07-18			ENSG00000155508	ENSG00000155508			9207	protein-coding gene	gene with protein product	"""PGK promoter directed over production"""	603731		POP2		10036195, 10637334	Standard	XM_005268527		Approved	CAF1, hCAF1, CALIF	uc003lvw.3	Q9UFF9	OTTHUMG00000130192	ENST00000517876.1:c.807G>A	5.37:g.154254927G>A		80	0		100	40	NM_004779	0	0	61	119	58	B0AZS3|B2RAR8|B7Z8R1|D3DQI8|O95709|Q7Z521|Q9H6Y1	Silent	SNP	ENST00000517876.1	37	CCDS4329.1																																																																																			.		0.542	CNOT8-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377449.1	NM_004779	
EBF1	1879	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	158140042	158140042	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:158140042G>A	ENST00000313708.6	-	13	1587	c.1305C>T	c.(1303-1305)ggC>ggT	p.G435G	EBF1_ENST00000517373.1_Silent_p.G427G|EBF1_ENST00000380654.4_Silent_p.G404G|EBF1_ENST00000518836.1_5'UTR	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	435					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)			ACGAATTCACGCCCATCATCC	0.577			T	HMGA2	lipoma																																p.G435G		.		Dom	yes		5	5q34	1879	early B-cell factor 1		M	.	EBF1-92	0			c.C1305T						.						134.0	112.0	119.0					5																	158140042		2203	4300	6503	SO:0001819	synonymous_variant	1879	exon13			ATTCACGCCCATC	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.1305C>T	5.37:g.158140042G>A		195	0		209	80	NM_024007	0	0	9	13	4	Q8IW11	Silent	SNP	ENST00000313708.6	37	CCDS4343.1																																																																																			.		0.577	EBF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252649.1	NM_024007	
TTC1	7265	hgsc.bcm.edu;bcgsc.ca	37	5	159437837	159437837	+	Frame_Shift_Del	DEL	A	A	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:159437837delA	ENST00000231238.5	+	2	412	c.302delA	c.(301-303)gaafs	p.E101fs	Y_RNA_ENST00000362528.1_RNA|TTC1_ENST00000522793.1_Frame_Shift_Del_p.E101fs	NM_001282500.1|NM_003314.1	NP_001269429.1|NP_003305.1	Q99614	TTC1_HUMAN	tetratricopeptide repeat domain 1	101				E -> K (in Ref. 4; AAH00942). {ECO:0000305}.	protein folding (GO:0006457)	peroxisomal membrane (GO:0005778)	unfolded protein binding (GO:0051082)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|prostate(1)|skin(1)	12	Renal(175;0.00196)	all_hematologic(541;0.00014)|Breast(839;0.0101)|all_neural(177;0.0281)|Medulloblastoma(196;0.0425)|Lung NSC(249;0.119)|all_lung(500;0.163)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	Epithelial(171;8.37e-05)|all cancers(165;0.000694)|OV - Ovarian serous cystadenocarcinoma(192;0.0402)		ATAGAACTGGAAAAAAACATG	0.378																																					p.E101fs		.											.	TTC1-91	0			c.302delA						.						41.0	45.0	44.0					5																	159437837		2203	4300	6503	SO:0001589	frameshift_variant	7265	exon2			AACTGGAAAAAAA	U46570	CCDS4348.1	5q32-q33.2	2013-01-10			ENSG00000113312	ENSG00000113312		"""Tetratricopeptide (TTC) repeat domain containing"""	12391	protein-coding gene	gene with protein product		601963				8836031	Standard	NM_003314		Approved	TPR1	uc003lxu.3	Q99614	OTTHUMG00000130326	ENST00000231238.5:c.302delA	5.37:g.159437837delA	ENSP00000231238:p.Glu101fs	151	1		205	77	NM_003314	0	0	0	0	0	B2RCT2|D3DQJ8|Q9BVT3	Frame_Shift_Del	DEL	ENST00000231238.5	37	CCDS4348.1																																																																																			.		0.378	TTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252675.3	NM_003314	
TENM2	57451	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	166711961	166711961	+	Missense_Mutation	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:166711961A>G	ENST00000518659.1	+	1	158	c.119A>G	c.(118-120)tAc>tGc	p.Y40C	TENM2_ENST00000545108.1_Missense_Mutation_p.Y40C|CTB-180C19.1_ENST00000521697.1_RNA	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	40	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										CAGAAATCCTACAGCTCCAGT	0.552																																					p.Y40C		.											.	.	0			c.A119G						.						77.0	77.0	77.0					5																	166711961		692	1591	2283	SO:0001583	missense	57451	exon1			AATCCTACAGCTC	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.119A>G	5.37:g.166711961A>G	ENSP00000429430:p.Tyr40Cys	212	0		265	106	NM_001122679	0	0	1	3	2	Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37		.	.	.	.	.	.	.	.	.	.	A	22.4	4.286742	0.80803	.	.	ENSG00000145934	ENST00000518659;ENST00000545108	T;T	0.47177	0.85;0.85	5.25	5.25	0.73442	Teneurin intracellular, N-terminal (2);	.	.	.	.	T	0.66307	0.2776	L	0.61218	1.895	0.49051	D	0.999748	D	0.76494	0.999	D	0.83275	0.996	T	0.70048	-0.4979	9	0.87932	D	0	.	15.1764	0.72916	1.0:0.0:0.0:0.0	.	40	Q9NT68	TEN2_HUMAN	C	40	ENSP00000429430:Y40C;ENSP00000438635:Y40C	ENSP00000429430:Y40C	Y	+	2	0	ODZ2	166644539	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.962000	0.93254	1.985000	0.57927	0.477000	0.44152	TAC	.		0.552	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679	
TENM2	57451	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	167617506	167617506	+	Nonsense_Mutation	SNP	A	A	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:167617506A>T	ENST00000518659.1	+	14	2773	c.2734A>T	c.(2734-2736)Aag>Tag	p.K912*	TENM2_ENST00000519204.1_Nonsense_Mutation_p.K791*|CTB-178M22.1_ENST00000517408.1_RNA|TENM2_ENST00000403607.2_Nonsense_Mutation_p.K736*|TENM2_ENST00000520394.1_Nonsense_Mutation_p.K680*|TENM2_ENST00000545108.1_Nonsense_Mutation_p.K912*	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	912					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										CTTGGCAGGCAAGGATAGCAC	0.557																																					p.K903X		.											.	.	0			c.A2707T						.						56.0	57.0	57.0					5																	167617506		2006	4175	6181	SO:0001587	stop_gained	57451	exon14			GCAGGCAAGGATA	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.2734A>T	5.37:g.167617506A>T	ENSP00000429430:p.Lys912*	220	0		262	108	NM_001122679	0	0	0	0	0	Q9ULU2	Nonsense_Mutation	SNP	ENST00000518659.1	37		.	.	.	.	.	.	.	.	.	.	A	40	8.283360	0.98742	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	.	.	.	5.82	5.82	0.92795	.	0.281574	0.40640	N	0.001054	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	.	16.1818	0.81909	1.0:0.0:0.0:0.0	.	.	.	.	X	912;912;791;680;736	.	ENSP00000384905:K736X	K	+	1	0	ODZ2	167550084	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.823000	0.69272	2.225000	0.72522	0.459000	0.35465	AAG	.		0.557	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679	
SLIT3	6586	broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	168201335	168201335	+	Silent	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:168201335C>T	ENST00000519560.1	-	13	1619	c.1200G>A	c.(1198-1200)caG>caA	p.Q400Q	SLIT3_ENST00000404867.3_Silent_p.Q400Q|SLIT3_ENST00000332966.8_Silent_p.Q400Q	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	400					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCTGCAGGTCCTGAAACGTGT	0.527																																					p.Q400Q	Ovarian(29;311 847 10864 17279 24903)	.											.	SLIT3-95	0			c.G1200A						.						245.0	233.0	237.0					5																	168201335		2203	4300	6503	SO:0001819	synonymous_variant	6586	exon13			CAGGTCCTGAAAC	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.1200G>A	5.37:g.168201335C>T		156	2		247	95	NM_001271946	0	0	44	90	46	A6H8U9|J3KNP3|O95804|Q9UFH5	Silent	SNP	ENST00000519560.1	37	CCDS4369.1																																																																																			.		0.527	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062	
TLX3	30012	broad.mit.edu;bcgsc.ca	37	5	170737206	170737206	+	Silent	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:170737206C>T	ENST00000296921.5	+	2	556	c.474C>T	c.(472-474)taC>taT	p.Y158Y		NM_021025.2	NP_066305.2	O43711	TLX3_HUMAN	T-cell leukemia homeobox 3	158					central nervous system development (GO:0007417)|negative regulation of neuron differentiation (GO:0045665)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of transcription, DNA-templated (GO:0006355)|respiratory gaseous exchange (GO:0007585)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GCCACCCCTACCAGAACCGGA	0.687			T	BCL11B	T-ALL																																p.Y158Y	Esophageal Squamous(33;43 807 3116 3348 30094)	.		Dom	yes		5	5q35.1	30012	"""T-cell leukemia, homeobox 3 (HOX11L2)"""		L	.	TLX3-658	0			c.C474T						.						14.0	15.0	15.0					5																	170737206		2122	4170	6292	SO:0001819	synonymous_variant	30012	exon2			CCCCTACCAGAAC	AJ223798	CCDS34288.1	5q35.1	2011-06-20	2005-12-22	2002-05-31	ENSG00000164438	ENSG00000164438		"""Homeoboxes / ANTP class : NKL subclass"""	13532	protein-coding gene	gene with protein product		604640	"""homeo box 11-like 2"", ""T-cell leukemia, homeobox 3"""	HOX11L2		11435718, 11435716	Standard	NM_021025		Approved	RNX	uc003mbf.3	O43711	OTTHUMG00000163207	ENST00000296921.5:c.474C>T	5.37:g.170737206C>T		121	1		231	97	NM_021025	1	0	3	15	11	Q96AD3	Silent	SNP	ENST00000296921.5	37	CCDS34288.1																																																																																			.		0.687	TLX3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000372076.3		
UBTD2	92181	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	171661284	171661284	+	Missense_Mutation	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:171661284A>G	ENST00000393792.2	-	2	554	c.149T>C	c.(148-150)cTa>cCa	p.L50P		NM_152277.2	NP_689490.2	Q8WUN7	UBTD2_HUMAN	ubiquitin domain containing 2	50						cytoplasm (GO:0005737)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)	10	Renal(175;0.000159)|Lung NSC(126;0.00976)|all_lung(126;0.0156)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CTTGCTGCGTAGTTGTCCATC	0.433																																					p.L50P		.											.	UBTD2-90	0			c.T149C						.						169.0	152.0	158.0					5																	171661284		2203	4300	6503	SO:0001583	missense	92181	exon2			CTGCGTAGTTGTC	AF251700	CCDS4379.2	5q35.1	2008-10-30			ENSG00000168246	ENSG00000168246			24463	protein-coding gene	gene with protein product	"""dendritic cell derived ubiquitin like protein"""	610174				12507522	Standard	NM_152277		Approved	DC-UbP, MGC30022	uc003mbp.1	Q8WUN7	OTTHUMG00000130519	ENST00000393792.2:c.149T>C	5.37:g.171661284A>G	ENSP00000377381:p.Leu50Pro	114	0		131	59	NM_152277	0	0	7	12	5	Q8TDQ3	Missense_Mutation	SNP	ENST00000393792.2	37	CCDS4379.2	.	.	.	.	.	.	.	.	.	.	A	23.0	4.366732	0.82463	.	.	ENSG00000168246	ENST00000393792	T	0.66280	-0.2	5.64	5.64	0.86602	.	0.147481	0.46758	D	0.000278	D	0.83289	0.5222	M	0.92367	3.3	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.87321	0.2318	10	0.87932	D	0	.	13.8234	0.63336	1.0:0.0:0.0:0.0	.	50	Q8WUN7	UBTD2_HUMAN	P	50	ENSP00000377381:L50P	ENSP00000377381:L50P	L	-	2	0	UBTD2	171593889	1.000000	0.71417	0.972000	0.41901	0.962000	0.63368	9.121000	0.94375	2.144000	0.66660	0.533000	0.62120	CTA	.		0.433	UBTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252936.1	NM_152277	
MSX2	4488	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	5	174152037	174152037	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:174152037G>A	ENST00000239243.6	+	1	502	c.375G>A	c.(373-375)ccG>ccA	p.P125P	MSX2_ENST00000507785.1_Silent_p.P125P	NM_002449.4	NP_002440.2	P35548	MSX2_HUMAN	msh homeobox 2	125					activation of meiosis (GO:0090427)|anagen (GO:0042640)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway involved in heart development (GO:0061312)|bone trabecula formation (GO:0060346)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cellular response to estradiol stimulus (GO:0071392)|cellular response to growth factor stimulus (GO:0071363)|chondrocyte development (GO:0002063)|cranial suture morphogenesis (GO:0060363)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic nail plate morphogenesis (GO:0035880)|enamel mineralization (GO:0070166)|endochondral bone growth (GO:0003416)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|frontal suture morphogenesis (GO:0060364)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of catagen (GO:0051795)|positive regulation of mesenchymal cell apoptotic process (GO:2001055)|positive regulation of osteoblast differentiation (GO:0045669)|signal transduction involved in regulation of gene expression (GO:0023019)|wound healing, spreading of epidermal cells (GO:0035313)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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 (GO:0000982)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10	Renal(175;0.000159)|Lung NSC(126;0.0196)|all_lung(126;0.0303)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			ATTCGCCGCCGCCAAGTGAGT	0.672																																					p.P125P		.											.	MSX2-90	0			c.G375A						.						10.0	15.0	14.0					5																	174152037		1952	3857	5809	SO:0001819	synonymous_variant	4488	exon1			GCCGCCGCCAAGT	D26145	CCDS4392.1	5q35.2	2011-06-20	2006-11-21		ENSG00000120149	ENSG00000120149		"""Homeoboxes / ANTP class : NKL subclass"""	7392	protein-coding gene	gene with protein product	"""craniosynostosis, type 2"""	123101	"""msh (Drosophila) homeo box homolog 2"", ""parietal foramina 1"", ""msh homeobox homolog 2 (Drosophila)"""	PFM1		8668339, 8786091	Standard	XM_006714868		Approved	CRS2, FPP, HOX8, MSH, PFM	uc003mcy.3	P35548	OTTHUMG00000130556	ENST00000239243.6:c.375G>A	5.37:g.174152037G>A		186	0		297	144	NM_002449	0	0	0	0	0	D3DQN1|Q53XM4|Q9UD60	Silent	SNP	ENST00000239243.6	37	CCDS4392.1																																																																																			.		0.672	MSX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252981.3		
CLTB	1212	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	5	175824632	175824632	+	Missense_Mutation	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:175824632A>G	ENST00000310418.4	-	4	645	c.440T>C	c.(439-441)gTa>gCa	p.V147A	CLTB_ENST00000345807.2_Missense_Mutation_p.V147A	NM_007097.3	NP_009028.1	P09497	CLCB_HUMAN	clathrin, light chain B	147	Involved in binding clathrin heavy chain.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	ciliary membrane (GO:0060170)|clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|trans-Golgi network (GO:0005802)	peptide binding (GO:0042277)|structural molecule activity (GO:0005198)			lung(1)	1	all_cancers(89;0.00522)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.098)		GTTCTTCTCTACTTGTTCACT	0.592																																					p.V147A		.											.	CLTB-90	0			c.T440C						.						197.0	177.0	184.0					5																	175824632		2203	4300	6503	SO:0001583	missense	1212	exon4			TTCTCTACTTGTT	M20470	CCDS4402.1, CCDS4403.1	5q35.2	2010-05-11	2010-05-11		ENSG00000175416	ENSG00000175416			2091	protein-coding gene	gene with protein product		118970	"""clathrin, light polypeptide (Lcb)"""			7713494	Standard	NM_007097		Approved	Lcb	uc003meh.4	P09497	OTTHUMG00000130662	ENST00000310418.4:c.440T>C	5.37:g.175824632A>G	ENSP00000309415:p.Val147Ala	61	0		83	37	NM_001834	1	0	445	992	546	Q53Y37|Q6FHW1	Missense_Mutation	SNP	ENST00000310418.4	37	CCDS4403.1	.	.	.	.	.	.	.	.	.	.	a	16.94	3.260785	0.59431	.	.	ENSG00000175416	ENST00000310418;ENST00000345807	.	.	.	4.16	4.16	0.48862	.	0.095072	0.64402	D	0.000001	T	0.41073	0.1143	N	0.24115	0.695	0.37800	D	0.92766	B;B	0.13145	0.007;0.007	B;B	0.16289	0.011;0.015	T	0.33574	-0.9863	9	0.15066	T	0.55	.	13.2153	0.59856	1.0:0.0:0.0:0.0	.	147;147	P09497-2;P09497	.;CLCB_HUMAN	A	147	.	ENSP00000309415:V147A	V	-	2	0	CLTB	175757238	1.000000	0.71417	0.996000	0.52242	0.969000	0.65631	9.281000	0.95811	1.508000	0.48769	0.248000	0.18094	GTA	.		0.592	CLTB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253153.1		
PHYKPL	85007	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	177649506	177649506	+	Missense_Mutation	SNP	G	G	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:177649506G>T	ENST00000308158.5	-	8	1011	c.777C>A	c.(775-777)ttC>ttA	p.F259L	PHYKPL_ENST00000481811.1_Intron	NM_153373.2	NP_699204.1	Q8IUZ5	AT2L2_HUMAN	5-phosphohydroxy-L-lysine phospho-lyase	259						mitochondrion (GO:0005739)	lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)									L-Alanine(DB00160)	GGAAGGCCCAGAAGTGCTTGC	0.602																																					p.F259L		.											.	AGXT2L2-91	0			c.C777A						.						86.0	93.0	91.0					5																	177649506		2203	4300	6503	SO:0001583	missense	85007	exon8			GGCCCAGAAGTGC	BC037567	CCDS4434.1	5q35.3	2013-06-12	2013-06-12	2013-06-12	ENSG00000175309	ENSG00000175309	4.2.3.134		28249	protein-coding gene	gene with protein product	"""5-phosphonooxy-L-lysine phospho-lyase"""	614683	"""alanine-glyoxylate aminotransferase 2-like 2"""	AGXT2L2		22241472	Standard	NM_153373		Approved	MGC15875	uc003miz.3	Q8IUZ5	OTTHUMG00000130892	ENST00000308158.5:c.777C>A	5.37:g.177649506G>T	ENSP00000310978:p.Phe259Leu	368	1		434	189	NM_153373	0	0	7	8	1	A8K7P6|B3KN36|D3DWP9|Q8WYS6|Q96HW8	Missense_Mutation	SNP	ENST00000308158.5	37	CCDS4434.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.501548	0.85176	.	.	ENSG00000175309	ENST00000308158	D	0.84146	-1.81	5.34	4.46	0.54185	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.109676	0.64402	D	0.000003	D	0.86285	0.5896	L	0.60012	1.86	0.80722	D	1	P;P	0.52316	0.904;0.952	P;P	0.53954	0.692;0.738	D	0.86163	0.1595	10	0.66056	D	0.02	-15.0316	7.8478	0.29435	0.1911:0.0:0.8089:0.0	.	259;259	A8K7P6;Q8IUZ5	.;AT2L2_HUMAN	L	259	ENSP00000310978:F259L	ENSP00000310978:F259L	F	-	3	2	AGXT2L2	177582112	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.367000	0.44213	1.374000	0.46228	0.563000	0.77884	TTC	.		0.602	PHYKPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253477.1	NM_032921	
ZNF454	285676	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	178392351	178392351	+	Missense_Mutation	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:178392351A>G	ENST00000320129.3	+	5	1249	c.946A>G	c.(946-948)Acc>Gcc	p.T316A	ZNF454_ENST00000519564.1_Missense_Mutation_p.T316A	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	316					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(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|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;0.234)		GGCACACCTTACCAAACACCA	0.388																																					p.T316A		.											.	ZNF454-93	0			c.A946G						.						53.0	57.0	56.0					5																	178392351		2203	4300	6503	SO:0001583	missense	285676	exon5			CACCTTACCAAAC	AK094763	CCDS4441.1	5q35.3	2013-01-08			ENSG00000178187	ENSG00000178187		"""Zinc fingers, C2H2-type"", ""-"""	21200	protein-coding gene	gene with protein product							Standard	NM_182594		Approved	FLJ37444	uc021yjc.1	Q8N9F8	OTTHUMG00000130891	ENST00000320129.3:c.946A>G	5.37:g.178392351A>G	ENSP00000326249:p.Thr316Ala	52	0		67	24	NM_001178089	0	0	0	0	0	Q2M1P2|Q2M323	Missense_Mutation	SNP	ENST00000320129.3	37	CCDS4441.1	.	.	.	.	.	.	.	.	.	.	A	7.274	0.607814	0.14002	.	.	ENSG00000178187	ENST00000320129;ENST00000519564	T;T	0.07216	3.21;3.21	4.11	2.95	0.34219	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.176168	0.27509	N	0.019060	T	0.05135	0.0137	N	0.20766	0.605	0.24291	N	0.995167	B	0.26400	0.148	B	0.28553	0.091	T	0.42882	-0.9425	10	0.18710	T	0.47	-5.8898	7.7693	0.28999	0.8974:0.0:0.1026:0.0	.	316	Q8N9F8	ZN454_HUMAN	A	316	ENSP00000326249:T316A;ENSP00000430354:T316A	ENSP00000326249:T316A	T	+	1	0	ZNF454	178324957	0.000000	0.05858	1.000000	0.80357	0.010000	0.07245	0.656000	0.24948	0.748000	0.32831	-0.361000	0.07541	ACC	.		0.388	ZNF454-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253476.2	XM_209718	
ZNF354C	30832	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	178507040	178507040	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:178507040G>A	ENST00000315475.6	+	5	1913	c.1607G>A	c.(1606-1608)aGc>aAc	p.S536N		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	536					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)			endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|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;0.247)		TTCATCTGCAGCTCCTCACTT	0.378																																					p.S536N		.											.	ZNF354C-91	0			c.G1607A						.						79.0	84.0	82.0					5																	178507040		2203	4300	6503	SO:0001583	missense	30832	exon5			TCTGCAGCTCCTC		CCDS4443.1	5q35	2013-01-08			ENSG00000177932	ENSG00000177932		"""Zinc fingers, C2H2-type"", ""-"""	16736	protein-coding gene	gene with protein product						10786630	Standard	NM_014594		Approved	KID3	uc003mju.3	Q86Y25	OTTHUMG00000130888	ENST00000315475.6:c.1607G>A	5.37:g.178507040G>A	ENSP00000324064:p.Ser536Asn	104	0		113	50	NM_014594	0	0	2	3	1	Q6P4P9|Q8NFX1	Missense_Mutation	SNP	ENST00000315475.6	37	CCDS4443.1	.	.	.	.	.	.	.	.	.	.	G	7.238	0.600727	0.13939	.	.	ENSG00000177932	ENST00000315475	T	0.61274	0.12	3.76	3.76	0.43208	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.47322	0.1439	L	0.50919	1.6	0.09310	N	1	B	0.15141	0.012	B	0.08055	0.003	T	0.23976	-1.0173	9	0.24483	T	0.36	-0.568	7.3262	0.26557	0.1203:0.0:0.8797:0.0	.	536	Q86Y25	Z354C_HUMAN	N	536	ENSP00000324064:S536N	ENSP00000324064:S536N	S	+	2	0	ZNF354C	178439646	0.035000	0.19736	0.020000	0.16555	0.015000	0.08874	0.352000	0.20113	2.072000	0.62099	0.591000	0.81541	AGC	.		0.378	ZNF354C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253473.2		
BTNL9	153579	hgsc.bcm.edu	37	5	180486404	180486404	+	Missense_Mutation	SNP	C	C	T	rs186444058	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:180486404C>T	ENST00000327705.9	+	11	1381	c.1150C>T	c.(1150-1152)Cac>Tac	p.H384Y	BTNL9_ENST00000376842.3_Missense_Mutation_p.H385Y	NM_152547.4	NP_689760.2	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9	384	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGCCGGCCGCCACTACTGGGA	0.796													C|||	19	0.00379393	0.0	0.0101	5008	,	,		8064	0.0		0.0089	False		,,,				2504	0.0031				p.H384Y		.											.	BTNL9-91	0			c.C1150T						.						1.0	2.0	1.0					5																	180486404		836	1977	2813	SO:0001583	missense	153579	exon11			GGCCGCCACTACT	AK057097	CCDS4460.2	5q35.3	2014-01-14			ENSG00000165810	ENSG00000165810		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	24176	protein-coding gene	gene with protein product							Standard	NM_152547		Approved	FLJ32535, BTN8	uc003mmt.3	Q6UXG8	OTTHUMG00000133152	ENST00000327705.9:c.1150C>T	5.37:g.180486404C>T	ENSP00000330200:p.His384Tyr	0	0		18	12	NM_152547	0	0	1	2	1	A6NL42|Q6P660|Q96DM5	Missense_Mutation	SNP	ENST00000327705.9	37	CCDS4460.2	38	0.0173992673992674	7	0.014227642276422764	5	0.013812154696132596	5	0.008741258741258742	21	0.027704485488126648	c	21.1	4.096472	0.76870	.	.	ENSG00000165810	ENST00000327705;ENST00000376842	T;T	0.68479	-0.33;-0.33	4.71	4.71	0.59529	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.217602	0.23321	U	0.049449	T	0.65575	0.2704	M	0.76938	2.355	0.30133	N	0.804617	B	0.28233	0.204	P	0.55615	0.78	T	0.75714	-0.3221	10	0.48119	T	0.1	.	15.5784	0.76410	0.0:1.0:0.0:0.0	.	384	Q6UXG8	BTNL9_HUMAN	Y	384;385	ENSP00000330200:H384Y;ENSP00000366038:H385Y	ENSP00000330200:H384Y	H	+	1	0	BTNL9	180419010	0.959000	0.32827	1.000000	0.80357	0.530000	0.34684	2.310000	0.43708	2.365000	0.80145	0.298000	0.19748	CAC	C|0.983;T|0.017		0.796	BTNL9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000157342.3	NM_152547	
OR2V2	285659	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	180582175	180582175	+	Missense_Mutation	SNP	A	A	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:180582175A>C	ENST00000328275.1	+	1	233	c.233A>C	c.(232-234)aAt>aCt	p.N78T		NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V, member 2	78						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)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTCTGTACCAATGTGCCAAAG	0.517																																					p.N78T		.											.	OR2V2-69	0			c.A233C						.						170.0	162.0	165.0					5																	180582175		2203	4300	6503	SO:0001583	missense	285659	exon1			GTACCAATGTGCC	AL161615	CCDS4461.1	5q35.3	2012-08-09			ENSG00000182613	ENSG00000182613		"""GPCR / Class A : Olfactory receptors"""	15341	protein-coding gene	gene with protein product				OR2V3			Standard	NM_206880		Approved	OST713	uc011dhj.2	Q96R30	OTTHUMG00000130933	ENST00000328275.1:c.233A>C	5.37:g.180582175A>C	ENSP00000332185:p.Asn78Thr	143	0		190	69	NM_206880	0	0	0	0	0	Q6IFL6|Q8NGV1	Missense_Mutation	SNP	ENST00000328275.1	37	CCDS4461.1	.	.	.	.	.	.	.	.	.	.	.	0.051	-1.249584	0.01469	.	.	ENSG00000182613	ENST00000328275	T	0.00864	5.6	3.38	-5.25	0.02781	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39759	N	0.001277	T	0.00144	0.0004	N	0.00028	-2.635	0.09310	N	0.999994	B	0.34181	0.44	B	0.24006	0.05	T	0.46289	-0.9202	10	0.02654	T	1	.	1.6168	0.02705	0.2242:0.4018:0.1025:0.2715	.	78	Q96R30	OR2V2_HUMAN	T	78	ENSP00000332185:N78T	ENSP00000332185:N78T	N	+	2	0	OR2V2	180514781	0.000000	0.05858	0.559000	0.28332	0.874000	0.50279	-1.860000	0.01656	-0.663000	0.05331	0.254000	0.18369	AAT	.		0.517	OR2V2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253529.1		
OR2V2	285659	hgsc.bcm.edu;broad.mit.edu	37	5	180582745	180582745	+	Frame_Shift_Del	DEL	C	C	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:180582745delC	ENST00000328275.1	+	1	803	c.803delC	c.(802-804)gccfs	p.A268fs		NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V, member 2	268						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)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CACTACCGGGCCCCCAGCCAT	0.582																																					p.A268fs		.											.	OR2V2-69	0			c.803delC						.						50.0	51.0	51.0					5																	180582745		2203	4300	6503	SO:0001589	frameshift_variant	285659	exon1			ACCGGGCCCCCAG	AL161615	CCDS4461.1	5q35.3	2012-08-09			ENSG00000182613	ENSG00000182613		"""GPCR / Class A : Olfactory receptors"""	15341	protein-coding gene	gene with protein product				OR2V3			Standard	NM_206880		Approved	OST713	uc011dhj.2	Q96R30	OTTHUMG00000130933	ENST00000328275.1:c.803delC	5.37:g.180582745delC	ENSP00000332185:p.Ala268fs	277	0		344	23	NM_206880	0	0	0	0	0	Q6IFL6|Q8NGV1	Frame_Shift_Del	DEL	ENST00000328275.1	37	CCDS4461.1																																																																																			.		0.582	OR2V2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253529.1		
SERPINB1	1992	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	2836398	2836398	+	Missense_Mutation	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:2836398A>G	ENST00000380739.5	-	5	713	c.511T>C	c.(511-513)Tgg>Cgg	p.W171R	SERPINB1_ENST00000476896.1_5'UTR|SERPINB1_ENST00000537185.1_Missense_Mutation_p.W20R	NM_030666.3	NP_109591.1	P30740	ILEU_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 1	171					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|ovary(2)	13	Ovarian(93;0.0412)			OV - Ovarian serous cystadenocarcinoma(45;0.0717)		TTATCCTTCCAGTTTCCCTTG	0.393																																					p.W171R		.											.	SERPINB1-292	0			c.T511C						.						136.0	130.0	132.0					6																	2836398		2203	4300	6503	SO:0001583	missense	1992	exon5			CCTTCCAGTTTCC	M93056	CCDS4477.1	6p25.2	2014-02-18	2005-08-18		ENSG00000021355	ENSG00000021355		"""Serine (or cysteine) peptidase inhibitors"""	3311	protein-coding gene	gene with protein product		130135	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 1"""	ELANH2		1376927, 24172014	Standard	NM_030666		Approved	EI, PI2, anti-elastase	uc003mub.4	P30740	OTTHUMG00000014124	ENST00000380739.5:c.511T>C	6.37:g.2836398A>G	ENSP00000370115:p.Trp171Arg	66	0		70	28	NM_030666	0	0	8	25	17	A8K5L2|B4DNT0|Q53FB9|Q5W0E1|Q9UDF8	Missense_Mutation	SNP	ENST00000380739.5	37	CCDS4477.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.441669	0.83993	.	.	ENSG00000021355	ENST00000380739;ENST00000542771;ENST00000537185	T;T	0.41065	1.01;1.5	5.36	5.36	0.76844	Serpin domain (3);	0.000000	0.85682	D	0.000000	T	0.73385	0.3580	H	0.97962	4.115	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84284	0.0496	10	0.87932	D	0	.	14.8304	0.70142	1.0:0.0:0.0:0.0	.	171	P30740	ILEU_HUMAN	R	171;133;20	ENSP00000370115:W171R;ENSP00000444543:W20R	ENSP00000370115:W171R	W	-	1	0	SERPINB1	2781397	1.000000	0.71417	0.801000	0.32222	0.873000	0.50193	8.998000	0.93550	2.167000	0.68274	0.533000	0.62120	TGG	.		0.393	SERPINB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039637.1		
PPP1R3G	648791	hgsc.bcm.edu	37	6	5086072	5086072	+	Missense_Mutation	SNP	A	A	C	rs34969826	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:5086072A>C	ENST00000405617.2	+	1	353	c.353A>C	c.(352-354)cAg>cCg	p.Q118P		NM_001145115.1	NP_001138587.1	B7ZBB8	PP13G_HUMAN	protein phosphatase 1, regulatory subunit 3G	118					glucose homeostasis (GO:0042593)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of glycogen biosynthetic process (GO:0045725)	cytoplasm (GO:0005737)	glycogen binding (GO:2001069)			kidney(2)	2						GAGGACGCACAGCTCGGCCCG	0.692													C|||	436	0.0870607	0.2844	0.0418	5008	,	,		12545	0.003		0.0199	False		,,,				2504	0.0082				p.Q118P		.											.	PPP1R3G-136	0			c.A353C						.						1.0	2.0	2.0					6																	5086072		404	1063	1467	SO:0001583	missense	648791	exon1			ACGCACAGCTCGG		CCDS47366.1	6p25.1	2012-04-17	2011-10-04		ENSG00000219607	ENSG00000219607		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14945	protein-coding gene	gene with protein product			"""protein phosphatase 1, regulatory (inhibitor) subunit 3G"""			11948623	Standard	NM_001145115		Approved		uc011dia.1	B7ZBB8	OTTHUMG00000014172	ENST00000405617.2:c.353A>C	6.37:g.5086072A>C	ENSP00000393832:p.Gln118Pro	3	0		12	5	NM_001145115	0	0	0	0	0		Missense_Mutation	SNP	ENST00000405617.2	37	CCDS47366.1	147	0.0673076923076923	115	0.23373983739837398	20	0.055248618784530384	0	0.0	12	0.0158311345646438	C	0.008	-1.868582	0.00547	.	.	ENSG00000219607	ENST00000405617	T	0.54479	0.57	3.64	-2.87	0.05700	.	.	.	.	.	T	0.05273	0.0140	N	0.02011	-0.69	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.28902	-1.0029	8	0.17832	T	0.49	.	0.6753	0.00865	0.3414:0.2733:0.1127:0.2726	rs34969826;rs61752358	118	B7ZBB8	PP13G_HUMAN	P	118	ENSP00000393832:Q118P	ENSP00000393832:Q118P	Q	+	2	0	PPP1R3G	5031071	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.009000	0.13219	-0.571000	0.06014	-1.050000	0.02344	CAG	A|0.933;C|0.067		0.692	PPP1R3G-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039740.3	NM_001145115	
FARS2	10667	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	5369294	5369294	+	Missense_Mutation	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:5369294T>C	ENST00000324331.6	+	2	827	c.491T>C	c.(490-492)cTg>cCg	p.L164P	FARS2_ENST00000274680.4_Missense_Mutation_p.L164P			O95363	SYFM_HUMAN	phenylalanyl-tRNA synthetase 2, mitochondrial	164					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|tRNA binding (GO:0000049)			endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)	TGGGACTTGCTGCACGCGGGA	0.582																																					p.L164P		.											.	FARS2-90	0			c.T491C						.						124.0	113.0	117.0					6																	5369294		2203	4300	6503	SO:0001583	missense	10667	exon2			ACTTGCTGCACGC	AF097441	CCDS4494.1	6p25.1	2011-07-01	2007-02-23	2004-12-03	ENSG00000145982	ENSG00000145982	6.1.1.20	"""Aminoacyl tRNA synthetases / Class II"""	21062	protein-coding gene	gene with protein product	"""phenylalanine tRNA ligase 2, mitochondrial"""	611592	"""phenylalanine-tRNA synthetase 1 (mitochondrial)"""	FARS1		10329163	Standard	NM_006567		Approved	dJ236A3.1	uc003mwr.2	O95363	OTTHUMG00000014178	ENST00000324331.6:c.491T>C	6.37:g.5369294T>C	ENSP00000316335:p.Leu164Pro	96	1		136	60	NM_006567	0	0	14	23	9	B2R664|Q53F66|Q5TCS3|Q6FG29|Q9NPY7|Q9P062	Missense_Mutation	SNP	ENST00000324331.6	37	CCDS4494.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.355135	0.82243	.	.	ENSG00000145982	ENST00000274680;ENST00000397563;ENST00000324331	T;T	0.73469	-0.75;-0.75	5.68	5.68	0.88126	Phenylalanyl-tRNA synthetase (1);	0.492911	0.23479	N	0.047731	D	0.86694	0.5994	M	0.89534	3.04	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.89475	0.3746	10	0.87932	D	0	-20.3011	15.3969	0.74801	0.0:0.0:0.0:1.0	.	164	O95363	SYFM_HUMAN	P	164;14;164	ENSP00000274680:L164P;ENSP00000316335:L164P	ENSP00000274680:L164P	L	+	2	0	FARS2	5314293	1.000000	0.71417	0.978000	0.43139	0.942000	0.58702	7.670000	0.83925	2.289000	0.77006	0.533000	0.62120	CTG	.		0.582	FARS2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467790.1	NM_006567	
DSP	1832	broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	7585739	7585739	+	Silent	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:7585739A>G	ENST00000379802.3	+	24	8585	c.8244A>G	c.(8242-8244)gaA>gaG	p.E2748E	DSP_ENST00000418664.2_Silent_p.E2149E	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2748	4.5 X 38 AA tandem repeats (Domain C).|Globular 2.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TAAGCACCGAAGAAGCCATCC	0.557																																					p.E2748E		.											.	DSP-518	0			c.A8244G						.						65.0	70.0	69.0					6																	7585739		2203	4300	6503	SO:0001819	synonymous_variant	1832	exon24			CACCGAAGAAGCC	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.8244A>G	6.37:g.7585739A>G		271	2		367	144	NM_004415	0	0	5	22	17	B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Silent	SNP	ENST00000379802.3	37	CCDS4501.1																																																																																			.		0.557	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415	
BMP6	654	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	7880448	7880448	+	Missense_Mutation	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:7880448T>C	ENST00000283147.6	+	7	1573	c.1414T>C	c.(1414-1416)Tat>Cat	p.Y472H		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	472					BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular response to mechanical stimulus (GO:0071260)|endochondral ossification (GO:0001958)|eye development (GO:0001654)|growth (GO:0040007)|immune response (GO:0006955)|inflammatory response (GO:0006954)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|osteoblast differentiation (GO:0001649)|positive regulation of aldosterone biosynthetic process (GO:0032349)|positive regulation of aldosterone secretion (GO:2000860)|positive regulation of bone mineralization (GO:0030501)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to activity (GO:0014823)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to retinoic acid (GO:0032526)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|type B pancreatic cell development (GO:0003323)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)|protein heterodimerization activity (GO:0046982)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					GAACCCCGAGTATGTCCCCAA	0.433																																					p.Y472H		.											.	BMP6-578	0			c.T1414C						.						184.0	194.0	191.0					6																	7880448		2203	4300	6503	SO:0001583	missense	654	exon7			CCCGAGTATGTCC	AF083030	CCDS4503.1	6p24-p23	2014-01-30	2003-10-06		ENSG00000153162	ENSG00000153162		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1073	protein-coding gene	gene with protein product		112266	"""vegetal related growth factor (TGFB-related)"""	VGR		1427904, 1453478	Standard	NM_001718		Approved	VGR1	uc003mxu.4	P22004	OTTHUMG00000014217	ENST00000283147.6:c.1414T>C	6.37:g.7880448T>C	ENSP00000283147:p.Tyr472His	217	0		289	111	NM_001718	0	0	5	5	0	Q5TCP3	Missense_Mutation	SNP	ENST00000283147.6	37	CCDS4503.1	.	.	.	.	.	.	.	.	.	.	T	10.42	1.344307	0.24339	.	.	ENSG00000153162	ENST00000537240;ENST00000283147;ENST00000540959	D	0.83506	-1.73	5.65	5.65	0.86999	Transforming growth factor-beta, C-terminal (3);	0.051940	0.85682	D	0.000000	T	0.45316	0.1336	N	0.03050	-0.425	0.49687	D	0.99981	B	0.11235	0.004	B	0.17979	0.02	T	0.50346	-0.8839	10	0.13853	T	0.58	.	11.6093	0.51049	0.1332:0.0:0.0:0.8668	.	472	P22004	BMP6_HUMAN	H	394;472;435	ENSP00000283147:Y472H	ENSP00000283147:Y472H	Y	+	1	0	BMP6	7825447	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	3.031000	0.49728	2.149000	0.67028	0.533000	0.62120	TAT	.		0.433	BMP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039794.1	NM_001718	
BLOC1S5	63915	broad.mit.edu;bcgsc.ca;mdanderson.org	37	6	8041439	8041439	+	Silent	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:8041439T>C	ENST00000397457.2	-	3	295	c.258A>G	c.(256-258)acA>acG	p.T86T	EEF1E1-BLOC1S5_ENST00000397456.2_3'UTR|BLOC1S5_ENST00000543936.1_Silent_p.T22T|BLOC1S5-TXNDC5_ENST00000439343.2_Silent_p.T82T	NM_001199323.1|NM_201280.2	NP_001186252.1|NP_958437.1	Q8TDH9	BL1S5_HUMAN	biogenesis of lysosomal organelles complex-1, subunit 5, muted	86					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|endosome to melanosome transport (GO:0035646)|melanosome organization (GO:0032438)|melanosome transport (GO:0032402)|neuron projection development (GO:0031175)|otolith morphogenesis (GO:0032474)|positive regulation of pigment cell differentiation (GO:0050942)	BLOC-1 complex (GO:0031083)|transport vesicle (GO:0030133)											TATGTTCATTTGTTTCATGGA	0.373																																					p.T86T		.											.	.	0			c.A258G						.						135.0	130.0	132.0					6																	8041439		2203	4300	6503	SO:0001819	synonymous_variant	63915	exon3			TTCATTTGTTTCA	AF426434	CCDS4506.1, CCDS75394.1	6p25.1-p24.3	2012-08-01	2012-08-01	2012-08-01		ENSG00000188428		"""Biogenesis of lysosomal organelles complex-1 subunits"""	18561	protein-coding gene	gene with protein product		607289	"""muted homolog (mouse)"""	MUTED		11912185	Standard	NM_001199322		Approved	MU, dJ303A1.3		Q8TDH9	OTTHUMG00000014220	ENST00000397457.2:c.258A>G	6.37:g.8041439T>C		47	1		76	41	NM_201280	0	0	10	20	10	B4DVM2|Q0VDJ6|Q0VDJ7|Q5THS1|Q68D56|Q8N5F9|Q9NU16	Silent	SNP	ENST00000397457.2	37	CCDS4506.1																																																																																			.		0.373	BLOC1S5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039797.2	NM_201280	
GCNT2	2651	broad.mit.edu	37	6	10556944	10556944	+	Intron	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:10556944A>G	ENST00000379597.3	+	1	1481				GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000316170.3_Silent_p.A96A|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000495262.1_Intron			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)						maintenance of lens transparency (GO:0036438)|negative regulation of cell-substrate adhesion (GO:0010812)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of protein kinase B signaling (GO:0051897)|posttranscriptional regulation of gene expression (GO:0010608)|protein glycosylation (GO:0006486)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		TTCCCTTGGCATATATAATGG	0.418																																					p.A96A		.											.	GCNT2-92	0			c.A288G						.						111.0	103.0	106.0					6																	10556944		2203	4300	6503	SO:0001627	intron_variant	2651	exon1			CTTGGCATATATA	L41605	CCDS4512.1, CCDS4513.1, CCDS34338.1	6p24.2	2014-07-18	2006-02-23		ENSG00000111846	ENSG00000111846	2.4.1.150	"""Blood group antigens"", ""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4204	protein-coding gene	gene with protein product	"""Ii blood group"", ""unassigned linkage group 3"""	600429	"""glucosaminyl (N-acetyl) transferase 5"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (Ii blood group)"", ""cataract, congenital"""	NACGT1, II, GCNT5, CCAT		8449405, 9915862	Standard	NM_145649		Approved	IGNT, NAGCT1, bA421M1.1, bA360O19.2, ULG3	uc003mze.3	Q06430	OTTHUMG00000014244	ENST00000379597.3:c.925+26875A>G	6.37:g.10556944A>G		87	0		111	6	NM_001491	0	0	0	0	0		Silent	SNP	ENST00000379597.3	37	CCDS34338.1																																																																																			.		0.418	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327912.3	NM_145649	
KDM1B	221656	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	18215282	18215282	+	Silent	SNP	C	C	T	rs144521010	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:18215282C>T	ENST00000297792.5	+	16	1635	c.1458C>T	c.(1456-1458)gtC>gtT	p.V486V	KDM1B_ENST00000397244.1_Silent_p.V487V|KDM1B_ENST00000546309.2_Silent_p.V9V|KDM1B_ENST00000388870.2_Silent_p.V719V			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	718					DNA methylation involved in gamete generation (GO:0043046)|histone H3-K4 demethylation (GO:0034720)|multicellular organismal development (GO:0007275)|regulation of DNA methylation (GO:0044030)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-monomethyl-K4 specific) (GO:0034649)|oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)	p.V486V(1)		breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						GGGAGGCTGTCGCATCCGTGA	0.572													C|||	17	0.00339457	0.0113	0.0029	5008	,	,		17368	0.0		0.0	False		,,,				2504	0.0				p.V486V		.											.	KDM1B-91	1	Substitution - coding silent(1)	breast(1)	c.C1458T						.	C		34,4372	40.8+/-73.8	0,34,2169	78.0	72.0	74.0		1458	-3.4	0.3	6	dbSNP_134	74	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	KDM1B	NM_153042.3		0,36,6467	TT,TC,CC		0.0233,0.7717,0.2768		486/591	18215282	36,12970	2203	4300	6503	SO:0001819	synonymous_variant	221656	exon16			GGCTGTCGCATCC	AK125318	CCDS34343.1	6p22.3	2011-07-01	2009-09-29	2009-09-29	ENSG00000165097	ENSG00000165097		"""Chromatin-modifying enzymes / K-demethylases"""	21577	protein-coding gene	gene with protein product		613081	"""amine oxidase, flavin containing 1"", ""chromosome 6 open reading frame 193"", ""amine oxidase (flavin containing) domain 1"""	C6orf193, AOF1		19407342, 19727073	Standard	NM_153042		Approved	FLJ34109, FLJ33898, dJ298J15.2, bA204B7.3, FLJ43328, LSD2	uc003ncn.1	Q8NB78	OTTHUMG00000014316	ENST00000297792.5:c.1458C>T	6.37:g.18215282C>T		49	0		99	30	NM_153042	0	0	28	57	29	A2A2C5|A2A2C6|Q5TGV3|Q6AI15|Q6ZUU4|Q8N258|Q96EL7	Silent	SNP	ENST00000297792.5	37	CCDS34343.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	1.844	-0.466755	0.04476	0.007717	2.33E-4	ENSG00000165097	ENST00000449850	.	.	.	5.99	-3.44	0.04796	.	.	.	.	.	T	0.21881	0.0527	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.36359	-0.9751	4	.	.	.	-16.9394	1.9129	0.03291	0.2304:0.1763:0.4169:0.1763	.	.	.	.	L	536	.	.	S	+	2	0	KDM1B	18323261	0.482000	0.25948	0.341000	0.25589	0.156000	0.22039	-0.208000	0.09371	-0.586000	0.05898	-0.839000	0.03059	TCG	C|0.998;T|0.002		0.572	KDM1B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277080.1	NM_153042	
Unknown	0	ucsc.edu;bcgsc.ca;mdanderson.org	37	6	28244219	28244219	+	IGR	SNP	T	T	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:28244219T>G								NKAPL (15483 upstream) : PGBD1 (5094 downstream)																							TCTGCGAGTCTGATGTGTGTC	0.453																																					p.S127S		.											.	.	0			c.T381G						.						80.0	74.0	76.0					6																	28244219		1934	4152	6086	SO:0001628	intergenic_variant	7741	exon4			CGAGTCTGATGTG																													6.37:g.28244219T>G		78	1		116	44	NM_152736	0	0	2	8	6		Silent	SNP		37																																																																																				.	0	0.453								
RNF39	80352	hgsc.bcm.edu	37	6	30039373	30039373	+	Missense_Mutation	SNP	G	G	C	rs61754472	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:30039373G>C	ENST00000244360.6	-	4	875	c.778C>G	c.(778-780)Ccc>Gcc	p.P260A	RNF39_ENST00000376751.3_Missense_Mutation_p.P260A	NM_025236.3	NP_079512.2	Q9H2S5	RNF39_HUMAN	ring finger protein 39	260	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)										CCGTCAGGGGGCGCGGGCGTC	0.736													g|||	121	0.0241613	0.0045	0.0663	5008	,	,		11328	0.0357		0.0149	False		,,,				2504	0.0184				p.P260A	NSCLC(8;188 360 1520 20207 31481)	.											.	RNF39-226	0			c.C778G						.		ALA/PRO,ALA/PRO	6,2398		0,6,1196	2.0	2.0	2.0		778,778	4.7	0.0	6	dbSNP_129	2	48,4134		0,48,2043	yes	missense,missense	RNF39	NM_025236.3,NM_170769.2	27,27	0,54,3239	CC,CG,GG		1.1478,0.2496,0.8199	possibly-damaging,possibly-damaging	260/421,260/355	30039373	54,6532	1202	2091	3293	SO:0001583	missense	80352	exon4			CAGGGGGCGCGGG	AF238315	CCDS4673.1, CCDS4674.1	6p21.3	2013-01-09			ENSG00000204618	ENSG00000204618		"""RING-type (C3HC4) zinc fingers"""	18064	protein-coding gene	gene with protein product		607524				11130983, 11716498	Standard	NM_170769		Approved	HZFw1, LIRF	uc003npe.3	Q9H2S5	OTTHUMG00000031288	ENST00000244360.6:c.778C>G	6.37:g.30039373G>C	ENSP00000244360:p.Pro260Ala	2	0		16	14	NM_025236	0	0	4	4	0	A2BEK3|A6NCD6|B0S858|Q5SPM8|Q5SPM9|Q5SPN0|Q5SRJ9|Q5SRK1|Q5SS29|Q9H2S3|Q9H2S4	Missense_Mutation	SNP	ENST00000244360.6	37	CCDS4673.1	74	0.03388278388278388	4	0.008130081300813009	28	0.07734806629834254	30	0.05244755244755245	12	0.0158311345646438	g	11.90	1.775599	0.31411	0.002496	0.011478	ENSG00000204618	ENST00000376751;ENST00000244360	T;T	0.10005	2.92;2.92	4.7	4.7	0.59300	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	0.000000	0.43919	D	0.000507	T	0.10766	0.0263	L	0.28014	0.82	0.09310	N	1	D;P	0.56035	0.974;0.728	D;B	0.62955	0.909;0.42	T	0.05699	-1.0869	10	0.52906	T	0.07	-26.5225	15.5749	0.76368	0.0:0.0:1.0:0.0	rs61754472	260;260	Q9H2S5;Q9H2S5-2	RNF39_HUMAN;.	A	260	ENSP00000365942:P260A;ENSP00000244360:P260A	ENSP00000244360:P260A	P	-	1	0	RNF39	30147352	0.994000	0.37717	0.021000	0.16686	0.029000	0.11900	4.595000	0.61048	2.339000	0.79563	0.466000	0.42574	CCC	G|0.966;C|0.034		0.736	RNF39-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076625.3	NM_170769	
C6orf15	29113	broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	31079664	31079664	+	Missense_Mutation	SNP	C	C	T	rs560033699		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:31079664C>T	ENST00000259870.3	-	2	475	c.472G>A	c.(472-474)Gat>Aat	p.D158N	PSORS1C1_ENST00000259881.9_5'Flank	NM_014070.2	NP_054789.2	Q6UXA7	CF015_HUMAN	chromosome 6 open reading frame 15	158					extracellular matrix organization (GO:0030198)	interstitial matrix (GO:0005614)	heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						CCTGTGGCATCGGGAGAAGAC	0.632													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16641	0.0		0.0	False		,,,				2504	0.0				p.D158N		.											.	C6orf15-90	0			c.G472A						.																																			SO:0001583	missense	29113	exon2			TGGCATCGGGAGA	AB031481	CCDS4693.1	6p21	2011-12-12			ENSG00000204542	ENSG00000204542			13927	protein-coding gene	gene with protein product		611401					Standard	NM_014070		Approved	STG	uc003nsk.1	Q6UXA7	OTTHUMG00000031111	ENST00000259870.3:c.472G>A	6.37:g.31079664C>T	ENSP00000259870:p.Asp158Asn	83	1		125	57	NM_014070	0	0	0	0	0	B0S7V8|Q0EFA6|Q2L6G7|Q5SQ81|Q86Z05|Q9UIG3	Missense_Mutation	SNP	ENST00000259870.3	37	CCDS4693.1	.	.	.	.	.	.	.	.	.	.	C	3.947	-0.012984	0.07727	.	.	ENSG00000204542	ENST00000259870	T	0.05717	3.4	4.73	-2.14	0.07123	.	1.977070	0.02551	N	0.095725	T	0.00695	0.0023	N	0.22421	0.69	0.09310	N	1	P	0.36660	0.564	B	0.22386	0.039	T	0.38714	-0.9648	10	0.06494	T	0.89	-2.8946	1.2523	0.01985	0.2753:0.3092:0.2822:0.1334	.	158	Q6UXA7	CF015_HUMAN	N	158	ENSP00000259870:D158N	ENSP00000259870:D158N	D	-	1	0	C6orf15	31187643	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.151000	0.10175	-0.285000	0.09089	-0.178000	0.13098	GAT	C|1.000;G|0.000		0.632	C6orf15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076184.2	NM_014070	
CCHCR1	54535	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	31112778	31112778	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:31112778G>A	ENST00000376266.5	-	14	1804	c.1682C>T	c.(1681-1683)tCc>tTc	p.S561F	CCHCR1_ENST00000396263.2_Missense_Mutation_p.S508F|CCHCR1_ENST00000451521.2_Missense_Mutation_p.S614F|CCHCR1_ENST00000396268.3_Missense_Mutation_p.S650F	NM_019052.3	NP_061925.2	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	561					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein export from nucleus (GO:0006611)	centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						GCTAGCCAGGGACTCCTGGGT	0.677																																					p.S650F		.											.	CCHCR1-91	0			c.C1949T						.						36.0	37.0	37.0					6																	31112778		2203	4300	6503	SO:0001583	missense	54535	exon14			GCCAGGGACTCCT	AF216493	CCDS4695.1, CCDS43445.1, CCDS47397.1	6p21.3	2007-08-01	2005-02-15	2005-02-16	ENSG00000204536	ENSG00000204536			13930	protein-coding gene	gene with protein product		605310	"""chromosome 6 open reading frame 18"""	C6orf18		10888604, 10545595	Standard	NM_019052		Approved	HCR	uc003nsp.4	Q8TD31	OTTHUMG00000031112	ENST00000376266.5:c.1682C>T	6.37:g.31112778G>A	ENSP00000365442:p.Ser561Phe	56	0		64	23	NM_001105564	0	0	15	27	12	A2ABH6|E9PE84|Q2TB67|Q5SQ82|Q5STE9|Q9NRK8|Q9NWY9|Q9NXJ4|Q9NXK3|Q9Y6W1|Q9Y6W2	Missense_Mutation	SNP	ENST00000376266.5	37	CCDS4695.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.894625	0.52121	.	.	ENSG00000204536	ENST00000396268;ENST00000376266;ENST00000396263;ENST00000440185;ENST00000451521	T;T;T;T	0.04551	3.6;3.6;3.6;3.6	4.92	3.09	0.35607	.	0.975694	0.08407	N	0.950521	T	0.08802	0.0218	M	0.67953	2.075	0.32963	D	0.521283	D;D;D;D;D	0.69078	0.989;0.997;0.976;0.994;0.986	P;D;P;P;P	0.64321	0.9;0.924;0.787;0.9;0.839	T	0.06197	-1.0840	10	0.62326	D	0.03	-2.2249	10.2691	0.43473	0.0:0.0:0.6407:0.3593	.	561;561;561;614;650	B4DIA2;A8K081;Q8TD31;E9PE84;Q8TD31-2	.;.;CCHCR_HUMAN;.;.	F	650;561;508;561;614	ENSP00000379566:S650F;ENSP00000365442:S561F;ENSP00000379561:S508F;ENSP00000401039:S614F	ENSP00000365442:S561F	S	-	2	0	CCHCR1	31220757	1.000000	0.71417	1.000000	0.80357	0.775000	0.43874	3.770000	0.55310	0.463000	0.27118	-0.335000	0.08231	TCC	.		0.677	CCHCR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076190.5	NM_019052	
VARS	7407	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	6	31747403	31747403	+	Frame_Shift_Del	DEL	G	G	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:31747403delG	ENST00000375663.3	-	27	3710	c.3270delC	c.(3268-3270)cccfs	p.P1090fs	VARS_ENST00000482996.1_5'Flank|VWA7_ENST00000447450.1_5'Flank|VWA7_ENST00000375688.4_5'Flank|VWA7_ENST00000375686.3_5'Flank|VWA7_ENST00000467576.1_5'Flank|Y_RNA_ENST00000364685.1_RNA	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	1090					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	GCTCCGGGTAGGGGGTAACAC	0.662																																					p.P1090fs		.											.	VARS-93	0			c.3270delC						.						31.0	39.0	36.0					6																	31747403		1506	2706	4212	SO:0001589	frameshift_variant	7407	exon27			CGGGTAGGGGGTA	BC012808	CCDS34412.1	6p21.3	2011-07-01		2005-07-05	ENSG00000204394	ENSG00000204394	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	12651	protein-coding gene	gene with protein product	"""valine tRNA ligase 1, cytoplasmic"""	192150	"""valyl-tRNA synthetase 2"""	VARS2		15779907	Standard	XM_005249362		Approved		uc003nxe.3	P26640	OTTHUMG00000031286	ENST00000375663.3:c.3270delC	6.37:g.31747403delG	ENSP00000364815:p.Pro1090fs	77	0		127	58	NM_006295	0	0	0	0	0	B0V1N1|B4DZ61|Q5JQ90|Q96E77|Q9UQM2	Frame_Shift_Del	DEL	ENST00000375663.3	37	CCDS34412.1																																																																																			.		0.662	VARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076619.2	NM_006295	
C4B	721	bcgsc.ca;mdanderson.org	37	6	31994861	31994861	+	Missense_Mutation	SNP	C	C	T	rs201414896		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:31994861C>T	ENST00000435363.2	+	20	2638	c.2554C>T	c.(2554-2556)Cgg>Tgg	p.R852W	C4B_ENST00000425700.2_Missense_Mutation_p.R852W	NM_001002029.3	NP_001002029.3	P0C0L5	CO4B_HUMAN	complement component 4B (Chido blood group)	852					complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|detection of molecule of bacterial origin (GO:0032490)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|opsonization (GO:0008228)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|complement binding (GO:0001848)|endopeptidase inhibitor activity (GO:0004866)									Intravenous Immunoglobulin(DB00028)	GCTGGAGCTGCGGCCTGTCCT	0.627																																					p.R852W		.											.	C4A-44	0			c.C2554T						.						32.0	27.0	29.0					6																	31994861		2134	3925	6059	SO:0001583	missense	720	exon20			GAGCTGCGGCCTG	AF019413	CCDS47405.1	6p21.3	2014-09-17	2009-01-06		ENSG00000224389	ENSG00000224389		"""Blood group antigens"", ""Complement system"""	1324	protein-coding gene	gene with protein product		120820	"""complement component 4B"""				Standard	NM_001002029		Approved	CPAMD3, C4F, CO4, C4B1, C4B3, CH	uc011jpm.2	P0C0L5	OTTHUMG00000031187	ENST00000435363.2:c.2554C>T	6.37:g.31994861C>T	ENSP00000415941:p.Arg852Trp	281	0		389	212	NM_007293	0	0	27	107	80	A2BHY4|P01028|P78445|Q13160|Q13906|Q14033|Q14835|Q6U2E9|Q6U2G1|Q6U2I5|Q6U2L1|Q6U2L7|Q6U2L9|Q6U2M5|Q6VCV8|Q96SA7|Q9NPK5|Q9UIP5	Missense_Mutation	SNP	ENST00000435363.2	37	CCDS47405.1	.	.	.	.	.	.	.	.	.	.	c	20.4	3.976013	0.74360	.	.	ENSG00000224389	ENST00000435363;ENST00000425700	T;T	0.27402	1.67;1.67	4.4	4.4	0.53042	.	0.487271	0.19212	N	0.119898	T	0.50837	0.1639	M	0.88105	2.93	0.38815	D	0.955512	D;D	0.76494	0.994;0.999	P;D	0.67900	0.888;0.954	T	0.61797	-0.6989	10	0.87932	D	0	.	12.565	0.56304	0.0:1.0:0.0:0.0	.	852;852	F5GXS0;Q6U2E9	.;.	W	852	ENSP00000415941:R852W;ENSP00000391933:R852W	ENSP00000391933:R852W	R	+	1	2	C4B	32102839	0.838000	0.29461	0.988000	0.46212	0.966000	0.64601	1.948000	0.40303	2.003000	0.58678	0.558000	0.71614	CGG	C|0.999;T|0.001		0.627	C4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076368.5	NM_001002029	
C4B	721	bcgsc.ca	37	6	31997544	31997544	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:31997544G>A	ENST00000435363.2	+	29	3962	c.3878G>A	c.(3877-3879)gGc>gAc	p.G1293D	C4B-AS1_ENST00000415626.1_RNA|C4B_ENST00000425700.2_Missense_Mutation_p.G1293D	NM_001002029.3	NP_001002029.3	P0C0L5	CO4B_HUMAN	complement component 4B (Chido blood group)	1293					complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|detection of molecule of bacterial origin (GO:0032490)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|opsonization (GO:0008228)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|complement binding (GO:0001848)|endopeptidase inhibitor activity (GO:0004866)									Intravenous Immunoglobulin(DB00028)	ACCCGTCAGGGCAGCTTCCAA	0.647																																					p.G1293D		.											.	C4A-44	0			c.G3878A						.						63.0	64.0	63.0					6																	31997544		1509	2706	4215	SO:0001583	missense	720	exon29			GTCAGGGCAGCTT	AF019413	CCDS47405.1	6p21.3	2014-09-17	2009-01-06		ENSG00000224389	ENSG00000224389		"""Blood group antigens"", ""Complement system"""	1324	protein-coding gene	gene with protein product		120820	"""complement component 4B"""				Standard	NM_001002029		Approved	CPAMD3, C4F, CO4, C4B1, C4B3, CH	uc011jpm.2	P0C0L5	OTTHUMG00000031187	ENST00000435363.2:c.3878G>A	6.37:g.31997544G>A	ENSP00000415941:p.Gly1293Asp	406	6		456	103	NM_007293	0	0	51	206	155	A2BHY4|P01028|P78445|Q13160|Q13906|Q14033|Q14835|Q6U2E9|Q6U2G1|Q6U2I5|Q6U2L1|Q6U2L7|Q6U2L9|Q6U2M5|Q6VCV8|Q96SA7|Q9NPK5|Q9UIP5	Missense_Mutation	SNP	ENST00000435363.2	37	CCDS47405.1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.118469	0.37339	.	.	ENSG00000224389	ENST00000435363;ENST00000425700	T;T	0.13657	2.57;2.57	4.76	-1.58	0.08479	.	0.430599	0.24325	N	0.039502	T	0.14485	0.0350	M	0.78916	2.43	0.19945	N	0.999944	B;P	0.35107	0.132;0.484	B;P	0.48334	0.204;0.574	T	0.27673	-1.0067	10	0.32370	T	0.25	.	16.9679	0.86291	0.0:0.6385:0.3615:0.0	.	1293;1293	F5GXS0;Q6U2E9	.;.	D	1293	ENSP00000415941:G1293D;ENSP00000391933:G1293D	ENSP00000391933:G1293D	G	+	2	0	C4B	32105523	0.840000	0.29493	0.209000	0.23619	0.929000	0.56500	0.650000	0.24858	-0.179000	0.10654	0.551000	0.68910	GGC	.		0.647	C4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076368.5	NM_001002029	
TNXB	7148	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	32012914	32012914	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:32012914G>A	ENST00000375244.3	-	32	10997	c.10796C>T	c.(10795-10797)gCc>gTc	p.A3599V	TNXB_ENST00000451343.1_Missense_Mutation_p.A28V|TNXB_ENST00000375247.2_Missense_Mutation_p.A3597V			P22105	TENX_HUMAN	tenascin XB	3644	Fibronectin type-III 28. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CACGAGCAAGGCCTGGGGCTG	0.632																																					p.A3597V		.											.	TNXB-90	0			c.C10790T						.						57.0	49.0	52.0					6																	32012914		1507	2706	4213	SO:0001583	missense	7148	exon32			AGCAAGGCCTGGG	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.10796C>T	6.37:g.32012914G>A	ENSP00000364393:p.Ala3599Val	354	2		452	95	NM_019105	0	0	59	78	19	P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37		.	.	.	.	.	.	.	.	.	.	g	18.22	3.574812	0.65878	.	.	ENSG00000168477	ENST00000375244;ENST00000451343;ENST00000375247	T;T;T	0.56611	0.45;0.45;0.45	4.85	4.85	0.62838	.	0.000000	0.53938	D	0.000058	T	0.26810	0.0656	N	0.17312	0.475	0.27369	N	0.955737	P	0.48503	0.911	P	0.47573	0.55	T	0.06752	-1.0809	10	0.33141	T	0.24	.	12.0397	0.53446	0.0:0.0:0.8273:0.1727	.	3597	P22105-3	.	V	3599;28;3597	ENSP00000364393:A3599V;ENSP00000407685:A28V;ENSP00000364396:A3597V	ENSP00000364393:A3599V	A	-	2	0	TNXB	32120892	0.931000	0.31567	1.000000	0.80357	0.981000	0.71138	1.338000	0.33873	2.526000	0.85167	0.651000	0.88453	GCC	.		0.632	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105	
HLA-DOB	3112	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	6	32782355	32782355	+	Missense_Mutation	SNP	G	G	A	rs201263357		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:32782355G>A	ENST00000438763.2	-	3	481	c.385C>T	c.(385-387)Cca>Tca	p.P129S	TAP2_ENST00000452392.2_Missense_Mutation_p.P736S	NM_002120.3	NP_002111.1	P13765	DOB_HUMAN	major histocompatibility complex, class II, DO beta	129	Beta-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|immune response (GO:0006955)|negative regulation of antigen processing and presentation of peptide antigen via MHC class II (GO:0002587)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|MHC class II protein complex (GO:0042613)	MHC class II protein complex binding (GO:0023026)|MHC class II receptor activity (GO:0032395)			endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	9						GTCCTCTCTGGGTACACTGTC	0.507																																					p.P129S		.											.	HLA-DOB-91	0			c.C385T						.						153.0	165.0	160.0					6																	32782355		1511	2709	4220	SO:0001583	missense	3112	exon3			TCTCTGGGTACAC		CCDS4754.1	6p21.3	2013-01-11			ENSG00000241106	ENSG00000241106		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4937	protein-coding gene	gene with protein product		600629					Standard	NM_002120		Approved			P13765	OTTHUMG00000031213	ENST00000438763.2:c.385C>T	6.37:g.32782355G>A	ENSP00000390020:p.Pro129Ser	137	0		163	58	NM_002120	0	0	3	3	0	B0V0Y0|Q29746|Q29825|Q6FHC2	Missense_Mutation	SNP	ENST00000438763.2	37	CCDS4754.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.6|20.6	4.013937|4.013937	0.75161|0.75161	.|.	.|.	ENSG00000241106|ENSG00000241106;ENSG00000204267;ENSG00000250264	ENST00000447394|ENST00000438763;ENST00000556934;ENST00000452392	.|T;T	.|0.00622	.|6.16;6.16	3.96|3.96	3.09|3.09	0.35607|0.35607	.|Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.437819|0.437819	0.24975|0.24975	N|N	0.034115|0.034115	T|T	0.01124|0.01124	0.0037|0.0037	M|M	0.78456|0.78456	2.415|2.415	0.19575|0.19575	N|N	0.999969|0.999969	.|D;B;D	.|0.89917	.|0.998;0.427;1.0	.|D;B;D	.|0.78314	.|0.947;0.174;0.991	T|T	0.47724|0.47724	-0.9095|-0.9095	6|10	.|0.59425	.|D	.|0.04	-21.3616|-21.3616	6.4616|6.4616	0.21960|0.21960	0.2141:0.0:0.7859:0.0|0.2141:0.0:0.7859:0.0	.|.	.|129;736;129	.|B7Z742;E7ENX8;P13765	.|.;.;DOB_HUMAN	L|S	112|129;736;736	.|ENSP00000390020:P129S;ENSP00000391806:P736S	.|ENSP00000390020:P129S	P|P	-|-	2|1	0|0	HLA-DOB|XXbac-BPG246D15.9;TAP2;HLA-DOB	32890333|32890333	0.899000|0.899000	0.30636|0.30636	0.023000|0.023000	0.16930|0.16930	0.886000|0.886000	0.51366|0.51366	1.595000|1.595000	0.36708|0.36708	1.247000|1.247000	0.43917|0.43917	0.643000|0.643000	0.83706|0.83706	CCC|CCA	.		0.507	HLA-DOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076439.1	NM_002120	
TAP1	6890	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	32820954	32820954	+	Missense_Mutation	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:32820954A>G	ENST00000354258.4	-	1	801	c.640T>C	c.(640-642)Tgg>Cgg	p.W214R	PSMB9_ENST00000395330.1_Intron|PSMB9_ENST00000453265.2_5'Flank|TAP1_ENST00000425148.2_5'Flank|PSMB9_ENST00000374859.2_5'Flank	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	214					antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytosol to ER transport (GO:0046967)|defense response (GO:0006952)|intracellular transport of viral protein in host cell (GO:0019060)|peptide transport (GO:0015833)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|TAP complex (GO:0042825)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|MHC class Ib protein binding (GO:0023029)|peptide antigen binding (GO:0042605)|peptide transporter activity (GO:0015197)|protein homodimerization activity (GO:0042803)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21					Lapatinib(DB01259)	AGTTTGTGCCACAGGGCTGCT	0.682																																					p.W214R		.											.	TAP1-91	0			c.T640C						.						22.0	21.0	22.0					6																	32820954		1508	2707	4215	SO:0001583	missense	6890	exon1			TGTGCCACAGGGC		CCDS4758.1	6p21.3	2014-09-17			ENSG00000168394	ENSG00000168394		"""ATP binding cassette transporters / subfamily B"""	43	protein-coding gene	gene with protein product		170260		ABCB2		1529427, 1946428	Standard	NM_000593		Approved	PSF1, RING4, D6S114E	uc003ocg.3	Q03518	OTTHUMG00000031067	ENST00000354258.4:c.640T>C	6.37:g.32820954A>G	ENSP00000346206:p.Trp214Arg	86	0		145	59	NM_000593	0	0	26	37	11	Q16149|Q96CP4	Missense_Mutation	SNP	ENST00000354258.4	37	CCDS4758.1	.	.	.	.	.	.	.	.	.	.	A	27.9	4.869627	0.91587	.	.	ENSG00000168394	ENST00000354258	D	0.88201	-2.35	4.34	4.34	0.51931	.	4.615670	0.00883	N	0.002156	D	0.87815	0.6272	L	0.34521	1.04	0.80722	D	1	D	0.64830	0.994	P	0.59221	0.854	T	0.77270	-0.2650	10	0.87932	D	0	-0.1846	9.8568	0.41090	1.0:0.0:0.0:0.0	.	214	Q03518	TAP1_HUMAN	R	214	ENSP00000346206:W214R	ENSP00000346206:W214R	W	-	1	0	TAP1	32928932	1.000000	0.71417	0.927000	0.36925	0.464000	0.32679	4.939000	0.63526	1.812000	0.52913	0.519000	0.50382	TGG	.		0.682	TAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076087.2	NM_000593	
ZBTB22	9278	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	33283545	33283545	+	Missense_Mutation	SNP	G	G	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:33283545G>T	ENST00000431845.2	-	2	1300	c.1149C>A	c.(1147-1149)gaC>gaA	p.D383E	TAPBP_ENST00000456592.2_5'Flank|TAPBP_ENST00000475304.1_5'Flank|TAPBP_ENST00000434618.2_5'Flank|TAPBP_ENST00000426633.2_5'Flank|TAPBP_ENST00000489157.1_5'Flank|ZBTB22_ENST00000418724.1_Missense_Mutation_p.D383E	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	383					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)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						ATGGGCCAAAGTCATTGGAGG	0.612																																					p.D383E		.											.	ZBTB22-69	0			c.C1149A						.						142.0	151.0	148.0					6																	33283545		2203	4300	6503	SO:0001583	missense	9278	exon2			GCCAAAGTCATTG	Z97183	CCDS4775.1	6p21.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000236104	ENSG00000236104		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13085	protein-coding gene	gene with protein product		611439	"""zinc finger protein 297"""	ZNF297			Standard	NM_005453		Approved	BING1, ZNF297A, fruitless, fru, ZBTB22A	uc010juu.3	O15209	OTTHUMG00000031110	ENST00000431845.2:c.1149C>A	6.37:g.33283545G>T	ENSP00000407545:p.Asp383Glu	66	1		87	42	NM_001145338	0	0	20	29	9	B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	Missense_Mutation	SNP	ENST00000431845.2	37	CCDS4775.1	.	.	.	.	.	.	.	.	.	.	G	15.05	2.718869	0.48622	.	.	ENSG00000236104	ENST00000418724;ENST00000431845	T;T	0.08984	3.03;3.03	4.09	3.22	0.36961	.	0.000000	0.35585	N	0.003104	T	0.04407	0.0121	N	0.20685	0.6	0.47374	D	0.999403	D	0.76494	0.999	D	0.76071	0.987	T	0.31081	-0.9956	10	0.07175	T	0.84	.	7.5893	0.28012	0.1171:0.0:0.8829:0.0	.	383	O15209	ZBT22_HUMAN	E	383	ENSP00000404403:D383E;ENSP00000407545:D383E	ENSP00000404403:D383E	D	-	3	2	ZBTB22	33391523	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	2.764000	0.47613	0.935000	0.37341	-0.404000	0.06349	GAC	.		0.612	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076183.2		
KIFC1	3833	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	33373046	33373046	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:33373046G>A	ENST00000428849.2	+	7	1624	c.1174G>A	c.(1174-1176)Gcc>Acc	p.A392T		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	392	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|spindle assembly (GO:0051225)	endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|minus-end-directed microtubule motor activity (GO:0008569)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						TGAAGAGATTGCCATGCTTGT	0.552																																					p.A392T		.											.	KIFC1-90	0			c.G1174A						.						96.0	98.0	97.0					6																	33373046		2203	4300	6503	SO:0001583	missense	3833	exon7			GAGATTGCCATGC	D14678	CCDS34430.1	6p21.32	2014-05-15	2003-01-09	2003-01-10	ENSG00000237649	ENSG00000237649		"""Kinesins"""	6389	protein-coding gene	gene with protein product		603763	"""kinesin-like 2"""	KNSL2		8276466	Standard	NM_002263		Approved	HSET	uc003oef.4	Q9BW19	OTTHUMG00000031209	ENST00000428849.2:c.1174G>A	6.37:g.33373046G>A	ENSP00000393963:p.Ala392Thr	91	0		84	34	NM_002263	0	0	25	32	7	O60887|Q14834|Q4KMP0|Q5SU09|Q6GMS7|Q6P4A5|Q9UQP7	Missense_Mutation	SNP	ENST00000428849.2	37	CCDS34430.1	.	.	.	.	.	.	.	.	.	.	G	15.11	2.734688	0.48939	.	.	ENSG00000237649	ENST00000428849	T	0.75260	-0.92	5.04	-2.79	0.05841	Kinesin, motor domain (4);	0.253053	0.39834	N	0.001243	T	0.59142	0.2172	M	0.62016	1.91	0.42889	D	0.994199	B;B	0.30511	0.282;0.149	B;B	0.34038	0.174;0.122	T	0.61792	-0.6990	10	0.72032	D	0.01	-10.3585	15.6369	0.76961	0.0:0.0:0.2048:0.7952	.	384;392	B4E063;Q9BW19	.;KIFC1_HUMAN	T	392	ENSP00000393963:A392T	ENSP00000393963:A392T	A	+	1	0	KIFC1	33481024	0.005000	0.15991	0.921000	0.36526	0.990000	0.78478	0.047000	0.14056	-0.290000	0.09025	-0.397000	0.06425	GCC	.		0.552	KIFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076417.1	NM_002263	
CUTA	51596	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	33385290	33385290	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:33385290G>A	ENST00000488034.1	-	2	346	c.225C>T	c.(223-225)tgC>tgT	p.C75C	SYNGAP1_ENST00000293748.5_5'Flank|CUTA_ENST00000494751.1_Silent_p.C52C|CUTA_ENST00000492510.1_5'Flank|CUTA_ENST00000488478.1_Silent_p.C75C|CUTA_ENST00000374500.5_Silent_p.C94C|CUTA_ENST00000440279.3_Silent_p.C52C|CUTA_ENST00000374496.3_Silent_p.C52C|SYNGAP1_ENST00000418600.2_5'Flank|CUTA_ENST00000607266.1_Silent_p.C52C	NM_001014837.1|NM_001014838.1|NM_001014840.1|NM_015921.2	NP_001014837.1|NP_001014838.1|NP_001014840.1|NP_057005.1	O60888	CUTA_HUMAN	cutA divalent cation tolerance homolog (E. coli)	75					protein localization (GO:0008104)|response to metal ion (GO:0010038)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	enzyme binding (GO:0019899)		SLC22A1/CUTA(2)	kidney(1)|lung(3)|urinary_tract(1)	5						TCTCGTTGGGGCAAGTAACAA	0.617																																					p.C94C		.											.	CUTA-90	0			c.C282T						.						107.0	116.0	113.0					6																	33385290		2203	4300	6503	SO:0001819	synonymous_variant	51596	exon2			GTTGGGGCAAGTA	AF106943	CCDS4779.1, CCDS34432.1, CCDS34433.1	6p21.32	2008-02-04	2006-02-15	2006-02-15	ENSG00000112514	ENSG00000112514			21101	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 82"", ""acetylcholinesterase-associated protein"""	C6orf82, ACHAP			Standard	XM_006715108		Approved		uc003oen.1	O60888	OTTHUMG00000031254	ENST00000488034.1:c.225C>T	6.37:g.33385290G>A		146	0		162	82	NM_001014433	0	2	507	790	281	A2AB26|A2BEL4|Q3B784|Q5JXM9|Q5SU05|Q9NYQ9	Silent	SNP	ENST00000488034.1	37	CCDS34433.1																																																																																			.		0.617	CUTA-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076541.3	NM_015921	
CUTA	51596	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	33385455	33385455	+	Silent	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:33385455A>G	ENST00000488034.1	-	2	181	c.60T>C	c.(58-60)tcT>tcC	p.S20S	SYNGAP1_ENST00000293748.5_5'Flank|CUTA_ENST00000494751.1_5'UTR|CUTA_ENST00000492510.1_5'Flank|CUTA_ENST00000488478.1_Silent_p.S20S|CUTA_ENST00000374500.5_Silent_p.S39S|CUTA_ENST00000440279.3_5'UTR|CUTA_ENST00000374496.3_5'UTR|SYNGAP1_ENST00000418600.2_5'Flank|CUTA_ENST00000607266.1_5'UTR	NM_001014837.1|NM_001014838.1|NM_001014840.1|NM_015921.2	NP_001014837.1|NP_001014838.1|NP_001014840.1|NP_057005.1	O60888	CUTA_HUMAN	cutA divalent cation tolerance homolog (E. coli)	20					protein localization (GO:0008104)|response to metal ion (GO:0010038)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	enzyme binding (GO:0019899)		SLC22A1/CUTA(2)	kidney(1)|lung(3)|urinary_tract(1)	5						TCCAAACAAAAGACAGGAGCA	0.592																																					p.S39S		.											.	CUTA-90	0			c.T117C						.						31.0	36.0	34.0					6																	33385455		2202	4297	6499	SO:0001819	synonymous_variant	51596	exon2			AACAAAAGACAGG	AF106943	CCDS4779.1, CCDS34432.1, CCDS34433.1	6p21.32	2008-02-04	2006-02-15	2006-02-15	ENSG00000112514	ENSG00000112514			21101	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 82"", ""acetylcholinesterase-associated protein"""	C6orf82, ACHAP			Standard	XM_006715108		Approved		uc003oen.1	O60888	OTTHUMG00000031254	ENST00000488034.1:c.60T>C	6.37:g.33385455A>G		55	0		74	29	NM_001014433	0	0	199	484	285	A2AB26|A2BEL4|Q3B784|Q5JXM9|Q5SU05|Q9NYQ9	Silent	SNP	ENST00000488034.1	37	CCDS34433.1																																																																																			.		0.592	CUTA-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076541.3	NM_015921	
ITPR3	3710	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	33657170	33657170	+	Missense_Mutation	SNP	A	A	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:33657170A>T	ENST00000374316.5	+	51	7910	c.6850A>T	c.(6850-6852)Atc>Ttc	p.I2284F	ITPR3_ENST00000605930.1_Missense_Mutation_p.I2284F			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2284					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	CACACTCAACATCCTGGGTGC	0.607																																					p.I2284F		.											.	ITPR3-1085	0			c.A6850T						.						73.0	64.0	67.0					6																	33657170		2203	4300	6503	SO:0001583	missense	3710	exon50			CTCAACATCCTGG	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.6850A>T	6.37:g.33657170A>T	ENSP00000363435:p.Ile2284Phe	48	0		82	35	NM_002224	0	0	4	19	15	Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	A	15.78	2.933099	0.52866	.	.	ENSG00000096433	ENST00000374316	D	0.92099	-2.97	5.07	5.07	0.68467	.	0.183274	0.47093	D	0.000251	D	0.86003	0.5829	L	0.47716	1.5	0.58432	D	0.999994	P;P	0.46784	0.605;0.884	B;P	0.44860	0.405;0.462	D	0.86677	0.1914	10	0.45353	T	0.12	-37.8167	10.2673	0.43462	0.8526:0.0:0.0:0.1474	.	2284;1954	Q14573;Q59ES2	ITPR3_HUMAN;.	F	2284	ENSP00000363435:I2284F	ENSP00000363435:I2284F	I	+	1	0	ITPR3	33765148	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.700000	0.47085	2.143000	0.66587	0.459000	0.35465	ATC	.		0.607	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224	
ANKS1A	23294	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	6	34951143	34951143	+	Frame_Shift_Del	DEL	C	C	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:34951143delC	ENST00000360359.3	+	7	1091	c.953delC	c.(952-954)accfs	p.T318fs	ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	318					ephrin receptor signaling pathway (GO:0048013)|neuron remodeling (GO:0016322)|substrate-dependent cell migration (GO:0006929)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleus (GO:0005634)				cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GTAGATAAAACCCCCCCACCC	0.418																																					p.T318fs		.											.	ANKS1A-94	0			c.953delC						.						130.0	152.0	144.0					6																	34951143		2203	4300	6503	SO:0001589	frameshift_variant	23294	exon7			ATAAAACCCCCCC	D86982	CCDS4798.1	6p21.31	2013-01-10	2006-02-17	2006-02-17	ENSG00000064999	ENSG00000064999		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	20961	protein-coding gene	gene with protein product		608994	"""ankyrin repeat and SAM domain containing 1"", ""ankyrin repeat and sterile alpha motif domain containing 1"""	ANKS1		9039502	Standard	NM_015245		Approved	KIAA0229	uc003ojx.4	Q92625	OTTHUMG00000014559	ENST00000360359.3:c.953delC	6.37:g.34951143delC	ENSP00000353518:p.Thr318fs	44	0		26	11	NM_015245	0	0	0	0	0	A2RUC1|B4DQW8|Q5JYI9|Q5SYR2|Q86WQ7	Frame_Shift_Del	DEL	ENST00000360359.3	37	CCDS4798.1																																																																																			.		0.418	ANKS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040262.1	XM_166478	
DNAH8	1769	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	38840860	38840860	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:38840860G>A	ENST00000359357.3	+	49	7019	c.6765G>A	c.(6763-6765)acG>acA	p.T2255T	DNAH8_ENST00000441566.1_Silent_p.T2219T|DNAH8_ENST00000449981.2_Silent_p.T2472T			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	2255	AAA 2. {ECO:0000250}.				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(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CTCCTGCCACGGTTTCTAGGA	0.502																																					p.T2472T		.											.	DNAH8-615	0			c.G7416A						.						93.0	96.0	95.0					6																	38840860		2203	4300	6503	SO:0001819	synonymous_variant	1769	exon51			TGCCACGGTTTCT	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.6765G>A	6.37:g.38840860G>A		87	0		138	55	NM_001206927	0	0	1	1	0	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Silent	SNP	ENST00000359357.3	37																																																																																				.		0.502	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927	
KCNK17	89822	hgsc.bcm.edu	37	6	39282036	39282036	+	Missense_Mutation	SNP	T	T	C	rs10947804	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:39282036T>C	ENST00000373231.4	-	1	293	c.61A>G	c.(61-63)Agc>Ggc	p.S21G	KCNK17_ENST00000453413.2_Missense_Mutation_p.S21G	NM_031460.3	NP_113648.2	Q96T54	KCNKH_HUMAN	potassium channel, subfamily K, member 17	21			S -> G (in dbSNP:rs10947804). {ECO:0000269|PubMed:11248242, ECO:0000269|PubMed:15489334}.		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)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)	14						AGCACGGTGCTGGGCACCGCG	0.761													T|||	2917	0.582468	0.8858	0.4553	5008	,	,		12417	0.4673		0.4851	False		,,,				2504	0.4816				p.S21G		.											.	KCNK17-227	0			c.A61G						.	T	GLY/SER,GLY/SER	3100,536		1364,372,82	3.0	4.0	3.0		61,61	2.1	0.0	6	dbSNP_120	3	4061,3263		1251,1559,852	yes	missense,missense	KCNK17	NM_001135111.1,NM_031460.3	56,56	2615,1931,934	CC,CT,TT		44.5522,14.7415,34.6624	benign,benign	21/272,21/333	39282036	7161,3799	1818	3662	5480	SO:0001583	missense	89822	exon1			CGGTGCTGGGCAC	AF358910	CCDS4842.1, CCDS47419.1	6p21	2012-03-07			ENSG00000124780	ENSG00000124780		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	14465	protein-coding gene	gene with protein product		607370				16382106	Standard	NM_031460		Approved	K2p17.1, TALK-2, TALK2, TASK4, TASK-4	uc003ooo.3	Q96T54	OTTHUMG00000014646	ENST00000373231.4:c.61A>G	6.37:g.39282036T>C	ENSP00000362328:p.Ser21Gly	0	0		22	22	NM_001135111	0	0	0	0	0	E9PB46|Q5TCF4|Q8TAW4|Q9BXD1|Q9H592	Missense_Mutation	SNP	ENST00000373231.4	37	CCDS4842.1	1214	0.5558608058608059	431	0.8760162601626016	173	0.47790055248618785	244	0.42657342657342656	366	0.48284960422163586	T	8.033	0.762256	0.15914	0.852585	0.554478	ENSG00000124780	ENST00000373231;ENST00000453413	T;T	0.56776	0.44;0.44	4.06	2.09	0.27110	.	1.425750	0.04586	N	0.395947	T	0.14184	0.0343	N	0.17082	0.46	0.80722	P	0.0	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.09122	-1.0689	9	0.21014	T	0.42	.	5.3388	0.15973	0.0:0.5516:0.0:0.4484	rs10947804;rs17845776;rs17858736;rs60349641	21;21	E9PB46;Q96T54	.;KCNKH_HUMAN	G	21	ENSP00000362328:S21G;ENSP00000401271:S21G	ENSP00000362328:S21G	S	-	1	0	KCNK17	39390014	0.000000	0.05858	0.003000	0.11579	0.032000	0.12392	-0.229000	0.09098	0.383000	0.24910	0.459000	0.35465	AGC	T|0.441;C|0.559		0.761	KCNK17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040453.2	NM_031460	
NFYA	4800	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	41060791	41060791	+	Silent	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:41060791A>G	ENST00000341376.6	+	8	1056	c.855A>G	c.(853-855)ctA>ctG	p.L285L	NFYA_ENST00000353205.5_Silent_p.L256L|OARD1_ENST00000480585.1_Intron	NM_002505.4	NP_002496.1	P23511	NFYA_HUMAN	nuclear transcription factor Y, alpha	285					cellular lipid metabolic process (GO:0044255)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|small molecule metabolic process (GO:0044281)|transcription from RNA polymerase II promoter (GO:0006366)	CCAAT-binding factor complex (GO:0016602)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1)	9	Ovarian(28;0.0418)|Colorectal(47;0.196)					GAGCTAAACTAGAGGCAGAAG	0.433																																					p.L285L		.											.	NFYA-226	0			c.A855G						.						82.0	80.0	81.0					6																	41060791		2203	4300	6503	SO:0001819	synonymous_variant	4800	exon8			TAAACTAGAGGCA		CCDS4849.1, CCDS4850.1	6p21.3	2008-11-11			ENSG00000001167	ENSG00000001167			7804	protein-coding gene	gene with protein product		189903				1774067, 9612081	Standard	NM_002505		Approved	HAP2, CBF-B, NF-YA	uc003opo.3	P23511	OTTHUMG00000014669	ENST00000341376.6:c.855A>G	6.37:g.41060791A>G		132	0		117	46	NM_002505	0	0	7	22	15	Q8IXU0	Silent	SNP	ENST00000341376.6	37	CCDS4849.1																																																																																			.		0.433	NFYA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040496.1		
TRERF1	55809	bcgsc.ca;mdanderson.org	37	6	42236625	42236625	+	Missense_Mutation	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:42236625T>C	ENST00000372922.4	-	5	1266	c.704A>G	c.(703-705)gAc>gGc	p.D235G	TRERF1_ENST00000354325.2_Missense_Mutation_p.D235G|TRERF1_ENST00000541110.1_Missense_Mutation_p.D235G|TRERF1_ENST00000372917.4_Missense_Mutation_p.D235G|TRERF1_ENST00000340840.2_Missense_Mutation_p.D235G	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	235	Gln-rich.				cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTGCTGGTAGTCATAATACAG	0.612																																					p.D235G		.											.	TRERF1-230	0			c.A704G						.						46.0	48.0	47.0					6																	42236625		2203	4300	6503	SO:0001583	missense	55809	exon5			TGGTAGTCATAAT	AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"""breast cancer anti-estrogen resistance 2"""	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.704A>G	6.37:g.42236625T>C	ENSP00000362013:p.Asp235Gly	74	2		105	42	NM_033502	0	0	1	3	2	Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Missense_Mutation	SNP	ENST00000372922.4	37	CCDS4867.1	.	.	.	.	.	.	.	.	.	.	T	16.27	3.075447	0.55646	.	.	ENSG00000124496	ENST00000541110;ENST00000372917;ENST00000372922;ENST00000340840;ENST00000354325	T;T;T;T;T	0.18657	2.37;2.2;2.32;2.2;2.21	5.39	5.39	0.77823	.	0.000000	0.64402	D	0.000006	T	0.24928	0.0605	L	0.32530	0.975	0.38832	D	0.955874	D;D;D;P;P	0.71674	0.998;0.995;0.995;0.949;0.949	D;D;D;P;P	0.77557	0.99;0.961;0.961;0.6;0.6	T	0.02975	-1.1087	10	0.41790	T	0.15	-27.9254	15.4065	0.74884	0.0:0.0:0.0:1.0	.	235;235;235;74;74	Q96PN7-4;Q05GC8;Q96PN7;Q96PN7-2;Q96PN7-3	.;.;TREF1_HUMAN;.;.	G	235	ENSP00000439689:D235G;ENSP00000362008:D235G;ENSP00000362013:D235G;ENSP00000339438:D235G;ENSP00000346285:D235G	ENSP00000339438:D235G	D	-	2	0	TRERF1	42344603	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.828000	0.69307	2.051000	0.60960	0.379000	0.24179	GAC	.		0.612	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040551.2	NM_033502	
UBR2	23304	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	42610157	42610157	+	Missense_Mutation	SNP	T	T	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:42610157T>A	ENST00000372899.1	+	18	2293	c.2035T>A	c.(2035-2037)Tat>Aat	p.Y679N	UBR2_ENST00000372901.1_Missense_Mutation_p.Y679N|UBR2_ENST00000372883.3_Missense_Mutation_p.Y183N	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	679					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			TTTTTAGATTTATTACTACCA	0.333																																					p.Y679N		.											.	UBR2-94	0			c.T2035A						.						49.0	52.0	51.0					6																	42610157		2202	4300	6502	SO:0001583	missense	23304	exon18			TAGATTTATTACT	BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"""Ubiquitin protein ligase E3 component n-recognins"""	21289	protein-coding gene	gene with protein product		609134	"""chromosome 6 open reading frame 133"""	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.2035T>A	6.37:g.42610157T>A	ENSP00000361990:p.Tyr679Asn	23	0		32	18	NM_015255	0	0	0	0	0	O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Missense_Mutation	SNP	ENST00000372899.1	37	CCDS4870.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.493322	0.84962	.	.	ENSG00000024048	ENST00000372899;ENST00000372901;ENST00000372883	T;T;T	0.64085	-0.08;-0.08;-0.08	5.77	5.77	0.91146	.	0.057993	0.64402	D	0.000001	T	0.67420	0.2891	M	0.79693	2.465	0.80722	D	1	P;B;P	0.52463	0.797;0.384;0.953	P;B;P	0.53401	0.603;0.311;0.725	T	0.68981	-0.5266	10	0.35671	T	0.21	-10.0098	16.0885	0.81076	0.0:0.0:0.0:1.0	.	679;679;183	Q8IWV8-4;Q8IWV8;Q8IWV8-3	.;UBR2_HUMAN;.	N	679;679;183	ENSP00000361990:Y679N;ENSP00000361992:Y679N;ENSP00000361974:Y183N	ENSP00000361974:Y183N	Y	+	1	0	UBR2	42718135	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.650000	0.83521	2.192000	0.70111	0.533000	0.62120	TAT	.		0.333	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2	NM_015255	
GLTSCR1L	23506	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	42797332	42797332	+	Missense_Mutation	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:42797332A>G	ENST00000314073.5	+	6	1437	c.1261A>G	c.(1261-1263)Aat>Gat	p.N421D	GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.N421D			Q6AI39	GSC1L_HUMAN	GLTSCR1-like	421																	CCAGACTATAAATGGGCAACT	0.493																																					p.N421D		.											.	.	0			c.A1261G						.						211.0	224.0	220.0					6																	42797332		2203	4300	6503	SO:0001583	missense	23506	exon5			ACTATAAATGGGC	AL833540	CCDS34451.1	6p21.1	2012-11-29	2012-11-29	2012-11-29	ENSG00000112624	ENSG00000112624			21111	protein-coding gene	gene with protein product			"""KIAA0240"""	KIAA0240			Standard	XM_005248972		Approved		uc003osp.1	Q6AI39	OTTHUMG00000014706	ENST00000314073.5:c.1261A>G	6.37:g.42797332A>G	ENSP00000313933:p.Asn421Asp	110	0		112	44	NM_015349	0	0	9	18	9	A1L3W2|Q5TFZ3|Q92514	Missense_Mutation	SNP	ENST00000314073.5	37	CCDS34451.1	.	.	.	.	.	.	.	.	.	.	A	19.22	3.785184	0.70222	.	.	ENSG00000112624	ENST00000394167;ENST00000536004;ENST00000314073;ENST00000394168	T;T	0.47528	0.84;0.84	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.57577	0.2063	L	0.56769	1.78	0.51233	D	0.999911	D;D;D	0.71674	0.996;0.998;0.998	D;D;D	0.77557	0.987;0.99;0.99	T	0.58819	-0.7569	10	0.48119	T	0.1	-21.4624	16.1025	0.81194	1.0:0.0:0.0:0.0	.	421;421;421	F5H616;Q6AI39;B7Z2G7	.;K0240_HUMAN;.	D	421	ENSP00000313933:N421D;ENSP00000377723:N421D	ENSP00000313933:N421D	N	+	1	0	KIAA0240	42905310	1.000000	0.71417	0.991000	0.47740	0.975000	0.68041	4.847000	0.62867	2.254000	0.74563	0.533000	0.62120	AAT	.		0.493	GLTSCR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040562.3	NM_015349	
PEX6	5190	hgsc.bcm.edu	37	6	42946490	42946490	+	Silent	SNP	C	C	A	rs9462858	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:42946490C>A	ENST00000304611.8	-	1	468	c.399G>T	c.(397-399)gtG>gtT	p.V133V	PEX6_ENST00000244546.4_Silent_p.V133V	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	133					ATP catabolic process (GO:0006200)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix, translocation (GO:0016561)|protein stabilization (GO:0050821)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			GCGGTCCGGGCACTGGGAGGG	0.746													C|||	1662	0.331869	0.3691	0.3516	5008	,	,		10923	0.1002		0.4612	False		,,,				2504	0.3732				p.V133V		.											.	PEX6-91	0			c.G399T						.	C		1002,2080		214,574,753	2.0	3.0	3.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	399	2.1	0.9	6	dbSNP_119	3	2653,4001		636,1381,1310	no	coding-synonymous	PEX6	NM_000287.3		850,1955,2063	AA,AC,CC		39.8708,32.5114,37.5411		133/981	42946490	3655,6081	1541	3327	4868	SO:0001819	synonymous_variant	5190	exon1			TCCGGGCACTGGG	U56602	CCDS4877.1	6p22-p11	2010-04-21			ENSG00000124587	ENSG00000124587		"""ATPases / AAA-type"""	8859	protein-coding gene	gene with protein product		601498				8670792	Standard	NM_000287		Approved	PXAAA1, PAF-2	uc003otf.3	Q13608	OTTHUMG00000014713	ENST00000304611.8:c.399G>T	6.37:g.42946490C>A		0	0		13	6	NM_000287	0	0	0	21	21	Q5T8W1|Q8WYQ0|Q8WYQ1|Q8WYQ2|Q99476	Silent	SNP	ENST00000304611.8	37	CCDS4877.1																																																																																			C|0.673;A|0.327		0.746	PEX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040569.1	NM_000287	
SRF	6722	hgsc.bcm.edu	37	6	43139653	43139653	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:43139653G>A	ENST00000265354.4	+	1	617	c.259G>A	c.(259-261)Gag>Aag	p.E87K	SRF_ENST00000457278.2_5'Flank	NM_003131.2	NP_003122.1	P11831	SRF_HUMAN	serum response factor (c-fos serum response element-binding transcription factor)	87	Asp/Glu-rich (acidic).|Gly-rich.				angiogenesis involved in wound healing (GO:0060055)|associative learning (GO:0008306)|cardiac myofibril assembly (GO:0055003)|cardiac vascular smooth muscle cell differentiation (GO:0060947)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular senescence (GO:0090398)|contractile actin filament bundle assembly (GO:0030038)|developmental growth (GO:0048589)|dorsal aorta morphogenesis (GO:0035912)|epithelial cell-cell adhesion (GO:0090136)|epithelial structure maintenance (GO:0010669)|erythrocyte development (GO:0048821)|eyelid development in camera-type eye (GO:0061029)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula formation (GO:0060347)|hematopoietic stem cell differentiation (GO:0060218)|hippocampus development (GO:0021766)|long term synaptic depression (GO:0060292)|long-term memory (GO:0007616)|megakaryocyte development (GO:0035855)|mesoderm formation (GO:0001707)|morphogenesis of an epithelial sheet (GO:0002011)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|neuron development (GO:0048666)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|patterning of blood vessels (GO:0001569)|platelet activation (GO:0030168)|platelet formation (GO:0030220)|positive regulation of cell differentiation (GO:0045597)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription by glucose (GO:0046016)|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 initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription via serum response element binding (GO:0010735)|positive thymic T cell selection (GO:0045059)|primitive streak formation (GO:0090009)|regulation of cell adhesion (GO:0030155)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of water loss via skin (GO:0033561)|response to cytokine (GO:0034097)|response to hormone (GO:0009725)|response to hypoxia (GO:0001666)|response to toxic substance (GO:0009636)|sarcomere organization (GO:0045214)|skin morphogenesis (GO:0043589)|stress fiber assembly (GO:0043149)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|tight junction assembly (GO:0070830)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|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)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|serum response element binding (GO:0010736)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	12			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.011)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			GGAGTCGGGCGAGGAGGAGGA	0.771																																					p.E87K		.											.	SRF-1084	0			c.G259A						.						2.0	2.0	2.0					6																	43139653		1363	2825	4188	SO:0001583	missense	6722	exon1			TCGGGCGAGGAGG	J03161	CCDS4889.1	6p	2008-02-05			ENSG00000112658	ENSG00000112658			11291	protein-coding gene	gene with protein product		600589				3203386	Standard	NM_003131		Approved	MCM1	uc003oui.3	P11831	OTTHUMG00000014722	ENST00000265354.4:c.259G>A	6.37:g.43139653G>A	ENSP00000265354:p.Glu87Lys	1	0		46	22	NM_003131	0	0	0	0	0	Q5T648	Missense_Mutation	SNP	ENST00000265354.4	37	CCDS4889.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.305283	0.81247	.	.	ENSG00000112658	ENST00000265354	D	0.83591	-1.74	3.42	3.42	0.39159	.	0.278591	0.33110	U	0.005269	T	0.56906	0.2017	L	0.27053	0.805	0.80722	D	1	P	0.38827	0.649	B	0.22753	0.041	T	0.68746	-0.5327	10	0.59425	D	0.04	-9.106	13.7739	0.63041	0.0:0.0:1.0:0.0	.	87	P11831	SRF_HUMAN	K	87	ENSP00000265354:E87K	ENSP00000265354:E87K	E	+	1	0	SRF	43247631	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.173000	0.89680	1.740000	0.51718	0.555000	0.69702	GAG	.		0.771	SRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040581.1	NM_003131	
GTPBP2	54676	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	43592287	43592287	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:43592287C>T	ENST00000307126.5	-	7	1059	c.1060G>A	c.(1060-1062)Gat>Aat	p.D354N	GTPBP2_ENST00000307114.7_Missense_Mutation_p.D266N|GTPBP2_ENST00000476510.1_5'UTR	NM_019096.3	NP_061969.3			GTP binding protein 2											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			GTGACGGCATCATCCTCAGAG	0.597																																					p.D354N	GBM(116;405 1620 28302 32150 44768)	.											.	GTPBP2-92	0			c.G1060A						.						64.0	52.0	56.0					6																	43592287		2203	4300	6503	SO:0001583	missense	54676	exon7			CGGCATCATCCTC	AB024574	CCDS4903.1, CCDS69124.1	6p21	2008-07-28			ENSG00000172432	ENSG00000172432			4670	protein-coding gene	gene with protein product		607434				10833435, 11054535	Standard	NM_019096		Approved		uc003ovs.3	Q9BX10	OTTHUMG00000014744	ENST00000307126.5:c.1060G>A	6.37:g.43592287C>T	ENSP00000303997:p.Asp354Asn	74	0		88	44	NM_019096	0	0	23	53	30		Missense_Mutation	SNP	ENST00000307126.5	37	CCDS4903.1	.	.	.	.	.	.	.	.	.	.	C	32	5.174355	0.94807	.	.	ENSG00000172432	ENST00000307126;ENST00000307114	T;T	0.33216	1.42;1.44	5.48	5.48	0.80851	Protein synthesis factor, GTP-binding (1);	0.099244	0.64402	D	0.000002	T	0.45597	0.1350	L	0.49778	1.585	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.976;0.999	T	0.43556	-0.9384	10	0.87932	D	0	-13.921	19.3591	0.94428	0.0:1.0:0.0:0.0	.	346;354	Q9BX10-4;Q9BX10	.;GTPB2_HUMAN	N	354;266	ENSP00000303997:D354N;ENSP00000304893:D266N	ENSP00000304893:D266N	D	-	1	0	GTPBP2	43700265	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.757000	0.85209	2.572000	0.86782	0.650000	0.86243	GAT	.		0.597	GTPBP2-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040679.1		
SLC35B2	347734	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	44223336	44223336	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:44223336G>A	ENST00000393812.3	-	4	549	c.406C>T	c.(406-408)Cgc>Tgc	p.R136C	SLC35B2_ENST00000538577.1_Missense_Mutation_p.R43C|SLC35B2_ENST00000495706.1_5'UTR|SLC35B2_ENST00000537814.1_Missense_Mutation_p.R3C|SLC35B2_ENST00000393810.1_Missense_Mutation_p.P84L|MIR4647_ENST00000583964.1_RNA	NM_178148.2	NP_835361.1	Q8TB61	S35B2_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2	136					3'-phospho-5'-adenylyl sulfate transmembrane transport (GO:1902559)|3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|3'-phosphoadenosine 5'-phosphosulfate transport (GO:0046963)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity (GO:0046964)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CCATAGCTGCGGGTCATCACT	0.527																																					p.R136C		.											.	SLC35B2-91	0			c.C406T						.						64.0	64.0	64.0					6																	44223336		2203	4300	6503	SO:0001583	missense	347734	exon4			AGCTGCGGGTCAT	AK075456	CCDS34462.1, CCDS69127.1, CCDS75462.1, CCDS75463.1	6p12.1-p11.21	2013-07-17	2013-07-17		ENSG00000157593	ENSG00000157593		"""Solute carriers"""	16872	protein-coding gene	gene with protein product		610788	"""solute carrier family 35, member B2"""				Standard	NM_001286517		Approved	UGTrel4	uc003oxd.3	Q8TB61	OTTHUMG00000014760	ENST00000393812.3:c.406C>T	6.37:g.44223336G>A	ENSP00000377401:p.Arg136Cys	60	0		103	38	NM_178148	0	0	60	102	42	B4DDU9|F5H7Y9|Q2VY06|Q53GA3|Q5T9W1|Q5T9W2|Q7Z2G3|Q8NBK6|Q96AR6	Missense_Mutation	SNP	ENST00000393812.3	37	CCDS34462.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.6|21.6	4.171141|4.171141	0.78452|0.78452	.|.	.|.	ENSG00000157593|ENSG00000157593	ENST00000393810|ENST00000393812;ENST00000537814;ENST00000538577;ENST00000341553	.|T;T;T	.|0.32988	.|1.43;1.44;1.43	5.69|5.69	3.84|3.84	0.44239|0.44239	.|.	.|0.101087	.|0.64402	.|D	.|0.000002	T|T	0.32823|0.32823	0.0842|0.0842	M|M	0.77820|0.77820	2.39|2.39	0.58432|0.58432	D|D	0.999996|0.999996	.|D;D	.|0.65815	.|0.995;0.988	.|P;P	.|0.55011	.|0.663;0.766	T|T	0.12041|0.12041	-1.0563|-1.0563	6|10	0.59425|0.38643	D|T	0.04|0.18	-34.4187|-34.4187	10.1438|10.1438	0.42751|0.42751	0.0:0.1184:0.5639:0.3177|0.0:0.1184:0.5639:0.3177	.|.	.|43;136	.|F5H7Y9;Q8TB61	.|.;S35B2_HUMAN	L|C	84|136;3;43;136	.|ENSP00000377401:R136C;ENSP00000440340:R3C;ENSP00000443845:R43C	ENSP00000377399:P84L|ENSP00000342455:R136C	P|R	-|-	2|1	0|0	SLC35B2|SLC35B2	44331314|44331314	0.991000|0.991000	0.36638|0.36638	0.987000|0.987000	0.45799|0.45799	0.945000|0.945000	0.59286|0.59286	3.087000|3.087000	0.50167|0.50167	0.691000|0.691000	0.31592|0.31592	0.561000|0.561000	0.74099|0.74099	CCG|CGC	.		0.527	SLC35B2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040724.2		
TDRD6	221400	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	46658119	46658119	+	Missense_Mutation	SNP	A	A	T	rs553260737		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:46658119A>T	ENST00000316081.6	+	1	2254	c.2254A>T	c.(2254-2256)Atg>Ttg	p.M752L	RP11-446F17.3_ENST00000422284.2_RNA|TDRD6_ENST00000544460.1_Missense_Mutation_p.M752L|RP11-446F17.3_ENST00000571590.1_RNA|RP11-446F17.3_ENST00000434329.2_RNA	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	752					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TTTTCCTCTTATGCAGAATTG	0.393																																					p.M752L		.											.	TDRD6-138	0			c.A2254T						.						36.0	36.0	36.0					6																	46658119		2203	4300	6503	SO:0001583	missense	221400	exon1			CCTCTTATGCAGA	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.2254A>T	6.37:g.46658119A>T	ENSP00000346065:p.Met752Leu	52	0		72	25	NM_001168359	0	0	0	0	0	B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	ENST00000316081.6	37	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	A	13.30	2.197114	0.38806	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.12465	2.68;2.68	5.85	-2.84	0.05751	.	1.651520	0.02899	N	0.135086	T	0.02688	0.0081	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.42172	-0.9467	10	0.27785	T	0.31	-11.1785	8.4713	0.32986	0.4501:0.1151:0.4348:0.0	.	752;752	F5H5M3;O60522	.;TDRD6_HUMAN	L	752	ENSP00000443299:M752L;ENSP00000346065:M752L	ENSP00000346065:M752L	M	+	1	0	TDRD6	46766078	0.000000	0.05858	0.000000	0.03702	0.628000	0.37860	-0.221000	0.09202	-0.355000	0.08199	0.533000	0.62120	ATG	.		0.393	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443	
C6orf141	135398	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	6	49518618	49518618	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:49518618G>A	ENST00000529246.2	+	1	506	c.113G>A	c.(112-114)cGc>cAc	p.R38H		NM_001145652.1	NP_001139124	Q5SZD1	CF141_HUMAN	chromosome 6 open reading frame 141	38										breast(1)|prostate(1)	2						GAGGTAGGGCGCGGGGCTCCG	0.731																																					p.R38H		.											.	.	0			c.G113A						.						6.0	8.0	7.0					6																	49518618		685	1574	2259	SO:0001583	missense	135398	exon1			TAGGGCGCGGGGC	AK054918	CCDS55018.1	6p12.3	2012-02-06			ENSG00000197261	ENSG00000197261			21351	protein-coding gene	gene with protein product							Standard	NM_001145652		Approved	MGC46457	uc011dwo.2	Q5SZD1	OTTHUMG00000014820	ENST00000529246.2:c.113G>A	6.37:g.49518618G>A	ENSP00000434602:p.Arg38His	31	0		51	26	NM_001145652	0	0	0	0	0	A8K1H4|Q8N400|Q96NQ1	Missense_Mutation	SNP	ENST00000529246.2	37	CCDS55018.1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.657131	0.67586	.	.	ENSG00000197261	ENST00000529246	T	0.32023	1.47	5.11	-1.31	0.09230	.	.	.	.	.	T	0.03564	0.0102	N	0.14661	0.345	0.09310	N	1	B	0.29232	0.238	B	0.19946	0.027	T	0.38265	-0.9669	9	0.24483	T	0.36	.	1.095	0.01671	0.3449:0.1453:0.3609:0.1489	.	38	Q5SZD1	CF141_HUMAN	H	38	ENSP00000434602:R38H	ENSP00000431184:R38H	R	+	2	0	C6orf141	49626577	0.000000	0.05858	0.007000	0.13788	0.159000	0.22180	-0.478000	0.06575	-0.156000	0.11079	0.561000	0.74099	CGC	.		0.731	C6orf141-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390228.1	NM_153344	
PKHD1	5314	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	51695744	51695744	+	Silent	SNP	A	A	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:51695744A>C	ENST00000371117.3	-	52	8492	c.8217T>G	c.(8215-8217)ccT>ccG	p.P2739P	PKHD1_ENST00000340994.4_Silent_p.P2739P	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2739					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)					GCCATGTTTCAGGGAGGGACC	0.408																																					p.P2739P		.											.	PKHD1-603	0			c.T8217G						.						97.0	88.0	91.0					6																	51695744		2203	4300	6503	SO:0001819	synonymous_variant	5314	exon52			TGTTTCAGGGAGG	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.8217T>G	6.37:g.51695744A>C		89	0		100	39	NM_170724	0	0	0	0	0	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	37	CCDS4935.1																																																																																			.		0.408	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694	
ELOVL5	60481	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	53140004	53140004	+	Missense_Mutation	SNP	G	G	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:53140004G>T	ENST00000542638.1	-	5	827	c.380C>A	c.(379-381)aCt>aAt	p.T127N	MIR5685_ENST00000579080.1_RNA|ELOVL5_ENST00000541407.1_Missense_Mutation_p.T154N|ELOVL5_ENST00000486973.1_5'Flank|ELOVL5_ENST00000304434.6_Missense_Mutation_p.T127N|ELOVL5_ENST00000370918.4_Missense_Mutation_p.T117N			Q9NYP7	ELOV5_HUMAN	ELOVL fatty acid elongase 5	127					alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid elongation, monounsaturated fatty acid (GO:0034625)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|linoleic acid metabolic process (GO:0043651)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	fatty acid elongase activity (GO:0009922)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7	Lung NSC(77;0.116)					GAAGAAGAAAGTGTCCATAAA	0.468																																					p.T154N		.											.	ELOVL5-90	0			c.C461A						.						185.0	157.0	167.0					6																	53140004		2203	4300	6503	SO:0001583	missense	60481	exon6			AAGAAAGTGTCCA	AF052129	CCDS4951.1, CCDS56433.1, CCDS56434.1, CCDS75470.1	6p21.1-p12.1	2014-07-30	2011-05-25		ENSG00000012660	ENSG00000012660			21308	protein-coding gene	gene with protein product		611805	"""ELOVL family member 5, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast)"", ""spinocerebellar ataxia 38"""	SCA38		10970790, 25065913	Standard	NM_021814		Approved	HELO1, dJ483K16.1	uc011dwx.2	Q9NYP7	OTTHUMG00000016249	ENST00000542638.1:c.380C>A	6.37:g.53140004G>T	ENSP00000440728:p.Thr127Asn	185	1		216	74	NM_001242828	0	0	179	301	122	B4DZJ2|F6SH78|Q59EL3|Q5TGH5|Q6NXE7|Q7L2S5|Q8NCG4|Q9UI22	Missense_Mutation	SNP	ENST00000542638.1	37	CCDS4951.1	.	.	.	.	.	.	.	.	.	.	G	35	5.438963	0.96168	.	.	ENSG00000012660	ENST00000370918;ENST00000304434;ENST00000542638;ENST00000541407	T;T;T;T	0.61392	0.11;0.11;0.11;0.11	6.11	6.11	0.99139	.	0.000000	0.85682	D	0.000000	D	0.88066	0.6337	H	0.99783	4.775	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.92678	0.6156	10	0.87932	D	0	-12.874	20.7342	0.99715	0.0:0.0:1.0:0.0	.	154;127;127	F6SH78;B3KWH9;Q9NYP7	.;.;ELOV5_HUMAN	N	117;127;127;154	ENSP00000359956:T117N;ENSP00000306640:T127N;ENSP00000440728:T127N;ENSP00000438095:T154N	ENSP00000306640:T127N	T	-	2	0	ELOVL5	53247963	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.807000	0.99171	2.906000	0.99361	0.655000	0.94253	ACT	.		0.468	ELOVL5-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043566.1	NM_021814	
MLIP	90523	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	53883833	53883833	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:53883833C>T	ENST00000274897.5	+	1	120	c.7C>T	c.(7-9)Ctt>Ttt	p.L3F	MLIP_ENST00000370877.2_Missense_Mutation_p.L3F|MLIP_ENST00000514921.1_Missense_Mutation_p.L3F|MLIP_ENST00000509997.1_Missense_Mutation_p.L3F	NM_138569.2	NP_612636.2	Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	3	Interaction with LMNA.					nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|PML body (GO:0016605)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						CAATATGGAACTTGAAAAGCG	0.338																																					p.L3F		.											.	MLIP-99	0			c.C7T						.						53.0	57.0	55.0					6																	53883833		2203	4300	6503	SO:0001583	missense	90523	exon1			ATGGAACTTGAAA	AK055530	CCDS4954.1, CCDS64448.1, CCDS64449.1	6p12.2-p12.1	2011-04-29	2011-04-29	2011-04-29	ENSG00000146147	ENSG00000146147			21355	protein-coding gene	gene with protein product	"""muscle-enriched A-type lamin interacting protein"""	614106	"""chromosome 6 open reading frame 142"""	C6orf142		21498514	Standard	NM_138569		Approved	MGC18257	uc011dxa.2	Q5VWP3	OTTHUMG00000014891	ENST00000274897.5:c.7C>T	6.37:g.53883833C>T	ENSP00000274897:p.Leu3Phe	145	0		145	58	NM_138569	0	0	0	0	0	B7Z2N0|D6RE05|Q96H08|Q96NF7	Missense_Mutation	SNP	ENST00000274897.5	37	CCDS4954.1	.	.	.	.	.	.	.	.	.	.	C	12.85	2.060467	0.36373	.	.	ENSG00000146147	ENST00000274897;ENST00000514921;ENST00000370877;ENST00000509997	T;T;T;T	0.27720	2.03;1.65;1.71;1.73	5.9	3.58	0.41010	.	0.534813	0.16842	N	0.197292	T	0.02929	0.0087	N	0.00707	-1.245	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.001;0.002	T	0.32455	-0.9906	10	0.22109	T	0.4	0.0069	8.0055	0.30323	0.0:0.2667:0.0:0.7333	.	3;3	Q5VWP3;D6RE05	MLIP_HUMAN;.	F	3	ENSP00000274897:L3F;ENSP00000425142:L3F;ENSP00000359914:L3F;ENSP00000427584:L3F	ENSP00000274897:L3F	L	+	1	0	MLIP	53991792	0.999000	0.42202	1.000000	0.80357	0.764000	0.43329	0.539000	0.23175	1.071000	0.40834	-0.312000	0.09012	CTT	.		0.338	MLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040979.3	NM_138569	
HMGCLL1	54511	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	55304258	55304258	+	Missense_Mutation	SNP	T	T	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:55304258T>A	ENST00000398661.2	-	9	1116	c.985A>T	c.(985-987)Atg>Ttg	p.M329L	HMGCLL1_ENST00000507223.1_5'UTR|HMGCLL1_ENST00000508459.1_Missense_Mutation_p.M133L|HMGCLL1_ENST00000274901.4_Missense_Mutation_p.M299L|HMGCLL1_ENST00000370850.2_Missense_Mutation_p.M196L|HMGCLL1_ENST00000308161.4_Missense_Mutation_p.M267L	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	329					ketone body biosynthetic process (GO:0046951)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	hydroxymethylglutaryl-CoA lyase activity (GO:0004419)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			CCATTAAGCATATATATCAAA	0.428																																					p.M329L	Ovarian(35;840 893 7837 15538 42887)	.											.	HMGCLL1-94	0			c.A985T						.						97.0	92.0	93.0					6																	55304258		1866	4100	5966	SO:0001583	missense	54511	exon9			TAAGCATATATAT	AK055075	CCDS43474.1, CCDS43475.1, CCDS75472.1, CCDS75473.1	6p12.1	2010-04-30	2010-04-30		ENSG00000146151	ENSG00000146151			21359	protein-coding gene	gene with protein product			"""3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase-like 1"""			8619474, 9110174	Standard	NM_001042406		Approved	DKFZP434G1411, bA418P12.1	uc003pcn.3	Q8TB92	OTTHUMG00000014902	ENST00000398661.2:c.985A>T	6.37:g.55304258T>A	ENSP00000381654:p.Met329Leu	90	0		80	35	NM_019036	0	0	0	0	0	B1AQ42|B3KNV0|B7Z1S7|F8W793|Q6ZSA9	Missense_Mutation	SNP	ENST00000398661.2	37	CCDS43475.1	.	.	.	.	.	.	.	.	.	.	t	14.59	2.582175	0.46006	.	.	ENSG00000146151	ENST00000274901;ENST00000398661;ENST00000370850;ENST00000508459;ENST00000308161	D;D;D;D;D	0.98075	-4.7;-4.7;-4.66;-4.7;-4.7	5.82	5.82	0.92795	Aldolase-type TIM barrel (1);Pyruvate carboxyltransferase (2);	0.077470	0.85682	D	0.000000	D	0.97059	0.9039	L	0.52364	1.645	0.80722	D	1	P;P;B;B;B	0.42161	0.696;0.772;0.04;0.028;0.035	P;P;B;B;B	0.58577	0.746;0.841;0.075;0.079;0.129	D	0.96719	0.9531	10	0.16896	T	0.51	-14.2587	16.1811	0.81903	0.0:0.0:0.0:1.0	.	133;196;267;299;329	B7Z4D4;B7Z212;F8W793;Q8TB92-2;Q8TB92	.;.;.;.;HMGC2_HUMAN	L	299;329;196;133;267	ENSP00000274901:M299L;ENSP00000381654:M329L;ENSP00000359887:M196L;ENSP00000424309:M133L;ENSP00000309737:M267L	ENSP00000274901:M299L	M	-	1	0	HMGCLL1	55412217	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.002000	0.88514	2.223000	0.72356	0.446000	0.29264	ATG	.		0.428	HMGCLL1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360290.1	XM_166383	
DST	667	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	56371582	56371582	+	Missense_Mutation	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:56371582T>C	ENST00000361203.3	-	71	18292	c.18285A>G	c.(18283-18285)atA>atG	p.I6095M	DST_ENST00000340834.4_5'UTR|DST_ENST00000370754.5_Missense_Mutation_p.I6384M|DST_ENST00000370769.4_Missense_Mutation_p.I6206M|DST_ENST00000370788.2_Missense_Mutation_p.I4009M|DST_ENST00000421834.2_Missense_Mutation_p.I4118M|DST_ENST00000446842.2_Missense_Mutation_p.I5880M|DST_ENST00000244364.6_Missense_Mutation_p.I3792M|DST_ENST00000312431.6_3'UTR			Q03001	DYST_HUMAN	dystonin	6085					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTTCTTCCCTTATGGTCTAGA	0.363																																					p.I3792M		.											.	DST-523	0			c.A11376G						.						121.0	120.0	120.0					6																	56371582		1832	4089	5921	SO:0001583	missense	667	exon57			TTCCCTTATGGTC	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.18285A>G	6.37:g.56371582T>C	ENSP00000354508:p.Ile6095Met	62	0		90	39	NM_015548	0	0	0	0	0	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37		.	.	.	.	.	.	.	.	.	.	T	13.48	2.251184	0.39797	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203;ENST00000537444	T;T;T;T;T;T;T	0.51071	1.28;1.28;1.28;1.28;1.28;1.28;0.72	5.41	-5.0	0.03001	.	0.392405	0.21368	N	0.075694	T	0.39682	0.1087	L	0.58810	1.83	0.26627	N	0.972533	D;D;P;P;P	0.57257	0.96;0.979;0.955;0.568;0.951	P;D;P;B;P	0.63283	0.78;0.913;0.726;0.365;0.847	T	0.46331	-0.9199	9	0.59425	D	0.04	.	8.5863	0.33660	0.2647:0.0:0.4469:0.2883	.	4118;6206;6384;6204;3792	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	M	3792;6384;6206;4118;5880;4009;6095;208	ENSP00000244364:I3792M;ENSP00000359790:I6384M;ENSP00000359805:I6206M;ENSP00000400883:I4118M;ENSP00000393645:I5880M;ENSP00000359824:I4009M;ENSP00000354508:I6095M	ENSP00000244364:I3792M	I	-	3	3	DST	56479541	0.988000	0.35896	0.331000	0.25455	0.623000	0.37688	0.113000	0.15499	-0.663000	0.05331	-0.480000	0.04831	ATA	.		0.363	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723	
FAM135A	57579	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	71138076	71138076	+	Missense_Mutation	SNP	T	T	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:71138076T>A	ENST00000418814.2	+	4	645	c.31T>A	c.(31-33)Tct>Act	p.S11T	FAM135A_ENST00000361499.3_Missense_Mutation_p.S11T|FAM135A_ENST00000505868.1_Missense_Mutation_p.S11T|FAM135A_ENST00000457062.2_Missense_Mutation_p.S11T|FAM135A_ENST00000505769.1_Missense_Mutation_p.S11T|FAM135A_ENST00000370479.3_Missense_Mutation_p.S11T	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	11										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						GGTAGAATTCTCTGTGGAGCT	0.313																																					p.S11T		.											.	FAM135A-90	0			c.T31A						.						83.0	85.0	84.0					6																	71138076		2203	4298	6501	SO:0001583	missense	57579	exon2			GAATTCTCTGTGG	AK000183	CCDS34481.1, CCDS47448.1, CCDS55028.1	6q13	2008-10-30	2007-05-11	2007-05-11	ENSG00000082269	ENSG00000082269			21084	protein-coding gene	gene with protein product			"""KIAA1411"""	KIAA1411		10718198	Standard	NM_001105531		Approved	FLJ20176	uc003pfj.3	Q9P2D6	OTTHUMG00000014991	ENST00000418814.2:c.31T>A	6.37:g.71138076T>A	ENSP00000410768:p.Ser11Thr	45	0		44	20	NM_001162529	0	0	1	2	1	A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5	Missense_Mutation	SNP	ENST00000418814.2	37	CCDS55028.1	.	.	.	.	.	.	.	.	.	.	T	29.8	5.037138	0.93630	.	.	ENSG00000082269	ENST00000418814;ENST00000370479;ENST00000505769;ENST00000515323;ENST00000515280;ENST00000507085;ENST00000457062;ENST00000361499;ENST00000505868	T;T;T;T;T;T	0.26223	1.99;2.02;1.75;2.02;2.08;1.98	5.84	5.84	0.93424	.	0.130165	0.53938	D	0.000057	T	0.45337	0.1337	M	0.79926	2.475	0.39986	D	0.974982	D;D;D;D	0.76494	0.999;0.982;0.999;0.999	D;D;D;D	0.81914	0.995;0.952;0.945;0.945	T	0.50215	-0.8854	10	0.54805	T	0.06	.	15.1985	0.73116	0.0:0.0:0.0:1.0	.	11;11;11;11	D6RC17;Q9P2D6;Q9P2D6-2;Q9P2D6-3	.;F135A_HUMAN;.;.	T	11	ENSP00000410768:S11T;ENSP00000359510:S11T;ENSP00000423785:S11T;ENSP00000409201:S11T;ENSP00000354913:S11T;ENSP00000423307:S11T	ENSP00000194672:S11T	S	+	1	0	FAM135A	71194797	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.270000	0.65547	2.243000	0.73865	0.533000	0.62120	TCT	.		0.313	FAM135A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041137.2	NM_020819	
RIMS1	22999	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	72960679	72960679	+	Missense_Mutation	SNP	A	A	G	rs201901272		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:72960679A>G	ENST00000521978.1	+	14	2428	c.2428A>G	c.(2428-2430)Aat>Gat	p.N810D	RIMS1_ENST00000517960.1_Missense_Mutation_p.N810D|RIMS1_ENST00000518273.1_Missense_Mutation_p.N810D|RIMS1_ENST00000517827.1_Missense_Mutation_p.N269D|RIMS1_ENST00000491071.2_Missense_Mutation_p.N810D|RIMS1_ENST00000264839.7_Missense_Mutation_p.N810D|RIMS1_ENST00000520567.1_Missense_Mutation_p.N810D|RIMS1_ENST00000425662.2_Missense_Mutation_p.N203D|RIMS1_ENST00000538414.1_5'Flank|RIMS1_ENST00000348717.5_Missense_Mutation_p.N810D|RIMS1_ENST00000401910.3_Missense_Mutation_p.N284D|RIMS1_ENST00000523963.1_Missense_Mutation_p.N284D|RIMS1_ENST00000522291.1_Missense_Mutation_p.N810D	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	810	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				ACCAAAATGGAATCAAACTTT	0.323																																					p.N810D		.											.	RIMS1-144	0			c.A2428G						.						89.0	82.0	84.0					6																	72960679		1817	4063	5880	SO:0001583	missense	22999	exon14			AAATGGAATCAAA	AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.2428A>G	6.37:g.72960679A>G	ENSP00000428417:p.Asn810Asp	111	0		139	63	NM_014989	0	0	0	0	0	A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	ENST00000521978.1	37	CCDS47449.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	26.5|26.5	4.746387|4.746387	0.89663|0.89663	.|.	.|.	ENSG00000079841|ENSG00000079841	ENST00000517433|ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978;ENST00000401910;ENST00000523963;ENST00000425662;ENST00000453976;ENST00000517827;ENST00000370420	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.80653	.|-1.4;-1.4;-1.4;-1.4;-1.4;-1.4;-1.4;-1.4;-1.4;-1.4;-1.4;-1.4;-1.4;-1.4	5.73|5.73	5.73|5.73	0.89815|0.89815	.|C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	.|0.000000	.|0.64402	.|D	.|0.000001	D|D	0.85120|0.85120	0.5624|0.5624	L|L	0.55834|0.55834	1.745|1.745	0.80722|0.80722	D|D	1|1	.|B;B;D;D;D;P;D;D;P;D;D;D	.|0.71674	.|0.187;0.235;0.979;0.99;0.998;0.944;0.988;0.979;0.813;0.99;0.988;0.99	.|P;B;D;D;D;D;D;D;D;D;D;D	.|0.91635	.|0.742;0.376;0.982;0.995;0.999;0.978;0.993;0.99;0.913;0.994;0.982;0.995	D|D	0.87086|0.87086	0.2169|0.2169	5|10	.|0.72032	.|D	.|0.01	-28.1457|-28.1457	15.9855|15.9855	0.80147|0.80147	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|269;284;810;269;284;810;63;810;810;63;810;810	.|B7Z3S3;E9PHF5;E9PHR1;B7Z9Z3;E9PF48;E7EX08;Q5JY22;E7ERQ1;E7ENC2;Q5JY21;C9JNW6;Q86UR5	.|.;.;.;.;.;.;.;.;.;.;.;RIMS1_HUMAN	G|D	383|810;810;810;810;810;810;810;810;810;810;810;810;284;284;203;203;269;35	.|ENSP00000430101:N810D;ENSP00000275037:N810D;ENSP00000264839:N810D;ENSP00000429959:N810D;ENSP00000430408:N810D;ENSP00000430502:N810D;ENSP00000430932:N810D;ENSP00000428417:N810D;ENSP00000385649:N284D;ENSP00000428328:N284D;ENSP00000411235:N203D;ENSP00000389503:N203D;ENSP00000428367:N269D;ENSP00000359448:N35D	.|ENSP00000264839:N810D	E|N	+|+	2|1	0|0	RIMS1|RIMS1	73017400|73017400	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.953000|0.953000	0.61014|0.61014	9.298000|9.298000	0.96132|0.96132	2.179000|2.179000	0.69175|0.69175	0.477000|0.477000	0.44152|0.44152	GAA|AAT	A|0.999;T|0.000		0.323	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1		
RIMS1	22999	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	72968725	72968725	+	Silent	SNP	T	T	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:72968725T>A	ENST00000521978.1	+	18	2964	c.2964T>A	c.(2962-2964)cgT>cgA	p.R988R	RIMS1_ENST00000517960.1_Silent_p.R987R|RIMS1_ENST00000518273.1_Silent_p.R988R|RIMS1_ENST00000517827.1_Silent_p.R447R|RIMS1_ENST00000491071.2_Silent_p.R988R|RIMS1_ENST00000264839.7_Silent_p.R988R|RIMS1_ENST00000520567.1_Silent_p.R987R|RIMS1_ENST00000425662.2_Silent_p.R381R|RIMS1_ENST00000538414.1_5'UTR|RIMS1_ENST00000348717.5_Silent_p.R987R|RIMS1_ENST00000401910.3_Silent_p.R461R|RIMS1_ENST00000523963.1_Silent_p.R462R|RIMS1_ENST00000522291.1_Silent_p.R987R	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	988					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GAAGGTCACGTTCTCCAACCA	0.388																																					p.R988R		.											.	RIMS1-144	0			c.T2964A						.						139.0	139.0	139.0					6																	72968725		1942	4128	6070	SO:0001819	synonymous_variant	22999	exon18			GTCACGTTCTCCA	AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.2964T>A	6.37:g.72968725T>A		74	0		108	54	NM_014989	0	0	0	0	0	A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Silent	SNP	ENST00000521978.1	37	CCDS47449.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.59|10.59	1.393699|1.393699	0.25205|0.25205	.|.	.|.	ENSG00000079841|ENSG00000079841	ENST00000517433|ENST00000522211	.|.	.|.	.|.	5.41|5.41	4.25|4.25	0.50352|0.50352	.|.	.|.	.|.	.|.	.|.	T|T	0.49949|0.49949	0.1587|0.1587	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.50215|0.50215	-0.8854|-0.8854	4|4	.|.	.|.	.|.	-15.7686|-15.7686	11.2727|11.2727	0.49148|0.49148	0.0:0.0717:0.0:0.9283|0.0:0.0717:0.0:0.9283	.|.	.|.	.|.	.|.	I|D	562|79	.|.	.|.	F|V	+|+	1|2	0|0	RIMS1|RIMS1	73025446|73025446	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	2.449000|2.449000	0.44935|0.44935	1.004000|1.004000	0.39156|0.39156	0.460000|0.460000	0.39030|0.39030	TTC|GTT	.		0.388	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1		
RIMS1	22999	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	73000437	73000437	+	Nonsense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:73000437C>T	ENST00000521978.1	+	25	3610	c.3610C>T	c.(3610-3612)Cag>Tag	p.Q1204*	RIMS1_ENST00000517960.1_Intron|RIMS1_ENST00000518273.1_Intron|RIMS1_ENST00000517827.1_Intron|RIMS1_ENST00000491071.2_Intron|RIMS1_ENST00000264839.7_Intron|RIMS1_ENST00000520567.1_Intron|RIMS1_ENST00000425662.2_Intron|RIMS1_ENST00000538414.1_Intron|RIMS1_ENST00000348717.5_Intron|RIMS1_ENST00000401910.3_Intron|RIMS1_ENST00000523963.1_Intron|RIMS1_ENST00000522291.1_Intron	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1204					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				AGCAACTGATCAGCCAGTCAT	0.498																																					p.Q1204X		.											.	RIMS1-144	0			c.C3610T						.						81.0	81.0	81.0					6																	73000437		2013	4187	6200	SO:0001587	stop_gained	22999	exon25			ACTGATCAGCCAG	AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.3610C>T	6.37:g.73000437C>T	ENSP00000428417:p.Gln1204*	115	0		122	47	NM_014989	0	0	0	0	0	A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Nonsense_Mutation	SNP	ENST00000521978.1	37	CCDS47449.1	.	.	.	.	.	.	.	.	.	.	C	42	9.329490	0.99138	.	.	ENSG00000079841	ENST00000521978	.	.	.	5.85	5.85	0.93711	.	0.127266	0.35838	N	0.002956	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-10.1781	17.9365	0.89013	0.0:1.0:0.0:0.0	.	.	.	.	X	1204	.	ENSP00000428417:Q1204X	Q	+	1	0	RIMS1	73057158	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.258000	0.65479	2.773000	0.95371	0.655000	0.94253	CAG	.		0.498	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1		
KCNQ5	56479	hgsc.bcm.edu	37	6	73332040	73332040	+	Silent	SNP	C	C	G	rs3734212	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:73332040C>G	ENST00000370398.1	+	1	232	c.123C>G	c.(121-123)tcC>tcG	p.S41S	KCNQ5_ENST00000402622.2_Silent_p.S41S|KCNQ5_ENST00000342056.2_Silent_p.S41S|KCNQ5_ENST00000355635.3_Silent_p.S41S|KCNQ5_ENST00000414165.2_Silent_p.S41S|KCNQ5_ENST00000403813.2_Silent_p.S41S|KCNQ5_ENST00000370392.1_Silent_p.S41S|KCNQ5_ENST00000355194.4_Silent_p.S41S	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	41					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	ATGTGGAGTCCGGCCGGGGCA	0.791													G|||	2294	0.458067	0.2625	0.4337	5008	,	,		8962	0.4524		0.7097	False		,,,				2504	0.4867				p.S41S	GBM(142;1375 1859 14391 23261 44706)	.											.	KCNQ5-158	0			c.C123G						.	G	,,,,	1342,1750		314,714,518	2.0	3.0	3.0		123,123,123,123,123	-2.2	1.0	6	dbSNP_107	3	4892,1744		1918,1056,344	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	KCNQ5	NM_001160130.1,NM_001160132.1,NM_001160133.1,NM_001160134.1,NM_019842.3	,,,,	2232,1770,862	GG,GC,CC		26.2809,43.4023,35.9169	,,,,	41/924,41/943,41/952,41/823,41/933	73332040	6234,3494	1546	3318	4864	SO:0001819	synonymous_variant	56479	exon1			GGAGTCCGGCCGG	AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.123C>G	6.37:g.73332040C>G		0	0		7	7	NM_001160132	0	0	0	0	0	A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Silent	SNP	ENST00000370398.1	37	CCDS4976.1																																																																																			C|0.505;G|0.495		0.791	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3	NM_019842	
SENP6	26054	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	76380283	76380283	+	Silent	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:76380283T>C	ENST00000447266.2	+	11	1717	c.1239T>C	c.(1237-1239)atT>atC	p.I413I	SENP6_ENST00000541192.1_Silent_p.I9I|SENP6_ENST00000327284.8_Silent_p.I406I|SENP6_ENST00000370010.2_Silent_p.I406I|SENP6_ENST00000370014.3_Silent_p.I413I	NM_015571.2	NP_056386.2	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	413					protein desumoylation (GO:0016926)|protein modification by small protein removal (GO:0070646)|protein sumoylation (GO:0016925)|regulation of kinetochore assembly (GO:0090234)|regulation of spindle assembly (GO:0090169)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	SUMO-specific protease activity (GO:0016929)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				GCAATTCTATTATCAACACAC	0.328																																					p.I413I		.											.	SENP6-660	0			c.T1239C						.						98.0	86.0	89.0					6																	76380283		1809	4075	5884	SO:0001819	synonymous_variant	26054	exon11			TTCTATTATCAAC		CCDS43483.1, CCDS47454.1	6q13-q14.3	2008-02-05	2005-08-17		ENSG00000112701	ENSG00000112701			20944	protein-coding gene	gene with protein product		605003	"""SUMO1/sentrin specific protease 6"""				Standard	NM_015571		Approved	SUSP1, KIAA0797	uc003pid.4	Q9GZR1	OTTHUMG00000015060	ENST00000447266.2:c.1239T>C	6.37:g.76380283T>C		30	0		46	19	NM_015571	0	0	15	25	10	A6NNY9|O94891|Q5VUL3|Q5VUL4|Q8TBY4|Q9UJV5	Silent	SNP	ENST00000447266.2	37	CCDS47454.1																																																																																			.		0.328	SENP6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041272.2	NM_015571	
HMGN3	9324	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	79913320	79913320	+	Nonsense_Mutation	SNP	T	T	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:79913320T>A	ENST00000344726.5	-	4	252	c.124A>T	c.(124-126)Aaa>Taa	p.K42*	HMGN3_ENST00000275036.7_Nonsense_Mutation_p.K42*	NM_001201362.1|NM_001201363.1|NM_004242.3	NP_001188291.1|NP_001188292.1|NP_004233.1	Q15651	HMGN3_HUMAN	high mobility group nucleosomal binding domain 3	42					chromatin modification (GO:0016568)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|thyroid hormone receptor binding (GO:0046966)			central_nervous_system(1)|kidney(2)|lung(1)	4		all_cancers(76;0.000116)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0393)		BRCA - Breast invasive adenocarcinoma(397;0.125)		TTTCTTGGTTTGGGTTCAGGT	0.318																																					p.K42X		.											.	HMGN3-226	0			c.A124T						.						151.0	151.0	151.0					6																	79913320		2203	4300	6503	SO:0001587	stop_gained	9324	exon4			TTGGTTTGGGTTC	L40357	CCDS4988.1, CCDS4989.1, CCDS75485.1	6q14.3	2011-07-01	2002-07-25	2002-07-26	ENSG00000118418	ENSG00000118418		"""High-mobility group / Canonical"""	12312	protein-coding gene	gene with protein product		604502	"""thyroid hormone receptor interactor 7"""	TRIP7		7776974, 11356838	Standard	NM_004242		Approved		uc021zbz.1	Q15651	OTTHUMG00000015073	ENST00000344726.5:c.124A>T	6.37:g.79913320T>A	ENSP00000341267:p.Lys42*	62	0		85	37	NM_001201362	0	0	205	260	55	B2RD37|Q5HYD3|Q7RTT0|Q969M5|Q9BZT7	Nonsense_Mutation	SNP	ENST00000344726.5	37	CCDS4988.1	.	.	.	.	.	.	.	.	.	.	T	36	5.654757	0.96724	.	.	ENSG00000118418	ENST00000344726;ENST00000275036	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5881	0.76502	0.0:0.0:0.0:1.0	.	.	.	.	X	42	.	.	K	-	1	0	HMGN3	79970039	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.304000	0.72800	2.272000	0.75746	0.460000	0.39030	AAA	.		0.318	HMGN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041300.1	NM_004242	
DOPEY1	23033	broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	83849997	83849997	+	Missense_Mutation	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:83849997A>G	ENST00000349129.2	+	23	5550	c.5290A>G	c.(5290-5292)Atc>Gtc	p.I1764V	DOPEY1_ENST00000237163.5_Missense_Mutation_p.I1745V|DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000369739.3_Missense_Mutation_p.I1755V	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1764					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		AATCCTCTCAATCCTTCATAT	0.418																																					p.I1764V		.											.	DOPEY1-155	0			c.A5290G						.						152.0	139.0	143.0					6																	83849997		2203	4300	6503	SO:0001583	missense	23033	exon23			CTCTCAATCCTTC	AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"""KIAA1117"""	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.5290A>G	6.37:g.83849997A>G	ENSP00000195654:p.Ile1764Val	91	1		103	40	NM_015018	0	0	1	1	0	Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	ENST00000349129.2	37	CCDS4996.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.934444	0.73442	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	T;T	0.25749	1.81;1.78	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.25195	0.0612	L	0.38531	1.155	0.80722	D	1	P;P;P	0.49961	0.93;0.913;0.913	D;P;P	0.63877	0.919;0.891;0.891	T	0.03077	-1.1075	10	0.15499	T	0.54	.	15.6275	0.76874	1.0:0.0:0.0:0.0	.	1655;1755;1764	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	V	1764;1745;1745	ENSP00000195654:I1764V;ENSP00000237163:I1745V	ENSP00000237163:I1745V	I	+	1	0	DOPEY1	83906716	1.000000	0.71417	0.938000	0.37757	0.950000	0.60333	7.121000	0.77160	2.145000	0.66743	0.477000	0.44152	ATC	.		0.418	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018	
ZNF292	23036	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	87967774	87967774	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:87967774C>T	ENST00000369577.3	+	8	4470	c.4427C>T	c.(4426-4428)aCt>aTt	p.T1476I	ZNF292_ENST00000339907.4_Missense_Mutation_p.T1471I	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1476						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TCTGGTGTGACTAACTTTAAT	0.398																																					p.T1476I		.											.	ZNF292-72	0			c.C4427T						.						55.0	53.0	53.0					6																	87967774		1857	4100	5957	SO:0001583	missense	23036	exon8			GTGTGACTAACTT	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.4427C>T	6.37:g.87967774C>T	ENSP00000358590:p.Thr1476Ile	101	0		74	31	NM_015021	0	0	7	12	5	Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	37	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	C	10.52	1.374338	0.24857	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.08720	3.06;3.07	5.97	3.73	0.42828	.	0.493365	0.21795	N	0.069001	T	0.02047	0.0064	N	0.19112	0.55	0.33017	D	0.528302	B	0.34103	0.437	B	0.30572	0.117	T	0.42666	-0.9438	10	0.72032	D	0.01	.	10.1897	0.43019	0.1827:0.6348:0.1825:0.0	.	1476	O60281	ZN292_HUMAN	I	1476;1471	ENSP00000358590:T1476I;ENSP00000342847:T1471I	ENSP00000342847:T1471I	T	+	2	0	ZNF292	88024493	0.991000	0.36638	1.000000	0.80357	0.991000	0.79684	0.458000	0.21892	0.552000	0.29026	0.655000	0.94253	ACT	.		0.398	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021	
MDN1	23195	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	90377855	90377855	+	Missense_Mutation	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:90377855T>C	ENST00000369393.3	-	84	14087	c.13972A>G	c.(13972-13974)Aaa>Gaa	p.K4658E	MDN1_ENST00000468568.1_5'Flank|MDN1_ENST00000428876.1_Missense_Mutation_p.K4658E			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4658					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		ATAAATTCTTTGGGCAAGCAA	0.408																																					p.K4658E		.											.	MDN1-100	0			c.A13972G						.						101.0	86.0	91.0					6																	90377855		2203	4300	6503	SO:0001583	missense	23195	exon84			ATTCTTTGGGCAA	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.13972A>G	6.37:g.90377855T>C	ENSP00000358400:p.Lys4658Glu	61	0		44	19	NM_014611	0	0	1	9	8	O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	T	13.15	2.152504	0.38021	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.02890	4.12;4.12	5.59	4.43	0.53597	.	0.186718	0.46442	D	0.000281	T	0.01029	0.0034	L	0.60455	1.87	0.35243	D	0.778012	B	0.34372	0.451	B	0.30179	0.112	T	0.20505	-1.0273	10	0.05620	T	0.96	.	11.4108	0.49925	0.0:0.0708:0.0:0.9292	.	4658	Q9NU22	MDN1_HUMAN	E	4658	ENSP00000358400:K4658E;ENSP00000413970:K4658E	ENSP00000358400:K4658E	K	-	1	0	MDN1	90434576	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.493000	0.60341	0.966000	0.38159	0.528000	0.53228	AAA	.		0.408	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2		
SOBP	55084	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	107811894	107811894	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:107811894G>A	ENST00000317357.5	+	1	733	c.74G>A	c.(73-75)aGg>aAg	p.R25K		NM_018013.3	NP_060483.3			sine oculis binding protein homolog (Drosophila)											endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		CCAGTGAAAAGGGAGATCAAT	0.527																																					p.R25K		.											.	SOBP-91	0			c.G74A						.						52.0	62.0	59.0					6																	107811894		1856	4094	5950	SO:0001583	missense	55084	exon1			TGAAAAGGGAGAT	AK001021	CCDS43488.1	6q21	2007-03-15			ENSG00000112320	ENSG00000112320			29256	protein-coding gene	gene with protein product		613667					Standard	NM_018013		Approved	FLJ10159	uc003prx.3	A7XYQ1	OTTHUMG00000015312	ENST00000317357.5:c.74G>A	6.37:g.107811894G>A	ENSP00000318900:p.Arg25Lys	99	0		131	58	NM_018013	0	0	1	2	1		Missense_Mutation	SNP	ENST00000317357.5	37	CCDS43488.1	.	.	.	.	.	.	.	.	.	.	G	35	5.535778	0.96460	.	.	ENSG00000112320	ENST00000317357	T	0.11277	2.79	4.9	4.9	0.64082	.	0.000000	0.64402	U	0.000002	T	0.16300	0.0392	L	0.38175	1.15	0.58432	D	0.999996	D	0.61697	0.99	D	0.73380	0.98	T	0.02813	-1.1107	10	0.44086	T	0.13	-9.3502	18.0676	0.89396	0.0:0.0:1.0:0.0	.	25	A7XYQ1	SOBP_HUMAN	K	25	ENSP00000318900:R25K	ENSP00000318900:R25K	R	+	2	0	SOBP	107918587	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.109000	0.94291	2.258000	0.74832	0.462000	0.41574	AGG	.		0.527	SOBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041693.2	NM_018013	
MICAL1	64780	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	109773753	109773753	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:109773753C>T	ENST00000358807.3	-	5	948	c.637G>A	c.(637-639)Gtc>Atc	p.V213I	MICAL1_ENST00000483856.1_5'Flank|MICAL1_ENST00000368952.4_Missense_Mutation_p.V232I|MICAL1_ENST00000358577.3_Missense_Mutation_p.V213I	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	213	Monooxygenase domain. {ECO:0000250}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein phosphorylation (GO:0001933)|oxidation-reduction process (GO:0055114)|signal transduction (GO:0007165)|sulfur oxidation (GO:0019417)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	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)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		GAGATAAGGACGTCAAATTCA	0.562																																					p.V213I		.											.	MICAL1-154	0			c.G637A						.						40.0	39.0	40.0					6																	109773753		2203	4300	6503	SO:0001583	missense	64780	exon5			TAAGGACGTCAAA	AB048948	CCDS5076.1, CCDS55047.1	6q21	2013-03-26	2013-03-26	2005-02-16	ENSG00000135596	ENSG00000135596			20619	protein-coding gene	gene with protein product		607129	"""NEDD9 interacting protein with calponin homology and LIM domains"""	NICAL		11827972	Standard	NM_022765		Approved	MICAL, FLJ11937, DKFZp434B1517, FLJ21739	uc003ptk.3	Q8TDZ2	OTTHUMG00000015350	ENST00000358807.3:c.637G>A	6.37:g.109773753C>T	ENSP00000351664:p.Val213Ile	153	1		211	76	NM_001159291	0	0	2	4	2	B7Z3R5|E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	Missense_Mutation	SNP	ENST00000358807.3	37	CCDS5076.1	.	.	.	.	.	.	.	.	.	.	C	19.66	3.869798	0.72065	.	.	ENSG00000135596	ENST00000358807;ENST00000368952;ENST00000358577;ENST00000431946	T;T;T;T	0.22336	1.96;1.96;1.96;1.96	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.40570	0.1122	M	0.72479	2.2	0.47547	D	0.999457	P;D;D	0.89917	0.779;1.0;0.999	B;D;D	0.75020	0.173;0.985;0.966	T	0.11036	-1.0604	10	0.66056	D	0.02	.	18.1573	0.89696	0.0:1.0:0.0:0.0	.	232;213;213	B7Z3R5;Q8TDZ2-2;Q8TDZ2	.;.;MICA1_HUMAN	I	213;232;213;213	ENSP00000351664:V213I;ENSP00000357948:V232I;ENSP00000351385:V213I;ENSP00000407075:V213I	ENSP00000351385:V213I	V	-	1	0	MICAL1	109880446	1.000000	0.71417	1.000000	0.80357	0.390000	0.30446	5.674000	0.68117	2.894000	0.99253	0.655000	0.94253	GTC	.		0.562	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041759.2	NM_022765	
ZBTB24	9841	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	109798048	109798048	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:109798048G>A	ENST00000230122.3	-	3	1205	c.1038C>T	c.(1036-1038)ggC>ggT	p.G346G		NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	346					hematopoietic progenitor cell differentiation (GO:0002244)|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(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		ACGGCCGCTCGCCTGTGTGCA	0.587																																					p.G346G		.											.	ZBTB24-92	0			c.C1038T						.						72.0	59.0	63.0					6																	109798048		2203	4300	6503	SO:0001819	synonymous_variant	9841	exon3			CCGCTCGCCTGTG	AB007901	CCDS34509.1	6q21	2014-09-17	2004-04-15	2004-04-16	ENSG00000112365	ENSG00000112365		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	21143	protein-coding gene	gene with protein product	"""POZ (BTB) and AT hook containing zinc finger 2"""	614064	"""zinc finger protein 450"""	ZNF450		9455477	Standard	NM_014797		Approved	KIAA0441, BIF1, PATZ2	uc003ptl.1	O43167	OTTHUMG00000015349	ENST00000230122.3:c.1038C>T	6.37:g.109798048G>A		93	0		146	53	NM_014797	0	0	3	3	0	Q17RC6|Q5TED5|Q8N455	Silent	SNP	ENST00000230122.3	37	CCDS34509.1																																																																																			.		0.587	ZBTB24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041758.1	NM_014797	
HDAC2	3066	hgsc.bcm.edu	37	6	114292035	114292035	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:114292035C>T	ENST00000519065.1	-	1	414	c.38G>A	c.(37-39)tGc>tAc	p.C13Y	RP3-399L15.3_ENST00000520554.1_RNA|RP3-399L15.3_ENST00000436876.2_RNA|RP3-399L15.3_ENST00000449620.2_RNA|RP3-399L15.3_ENST00000522844.1_RNA|HDAC2_ENST00000519108.1_5'Flank|HDAC2_ENST00000368632.2_5'UTR|RP3-399L15.3_ENST00000521888.1_RNA|HDAC2_ENST00000398283.2_Missense_Mutation_p.C107Y|RP3-399L15.3_ENST00000520891.1_RNA|RP3-399L15.3_ENST00000519104.1_RNA			Q92769	HDAC2_HUMAN	histone deacetylase 2	13	Histone deacetylase.				ATP-dependent chromatin remodeling (GO:0043044)|blood coagulation (GO:0007596)|cardiac muscle cell development (GO:0055013)|chromatin remodeling (GO:0006338)|circadian regulation of gene expression (GO:0032922)|dendrite development (GO:0016358)|embryonic digit morphogenesis (GO:0042733)|epidermal cell differentiation (GO:0009913)|eyelid development in camera-type eye (GO:0061029)|fungiform papilla formation (GO:0061198)|hair follicle placode formation (GO:0060789)|hippocampus development (GO:0021766)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|maintenance of chromatin silencing (GO:0006344)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell cycle (GO:0045786)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of neuron projection development (GO:0010977)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of proteolysis (GO:0045862)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of protein deacetylation (GO:0090311)|regulation of protein kinase B signaling (GO:0051896)|regulation of sarcomere organization (GO:0060297)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|replication fork (GO:0005657)|Sin3 complex (GO:0016580)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|poly(A) RNA binding (GO:0044822)|protein deacetylase activity (GO:0033558)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Aminophylline(DB01223)|Lovastatin(DB00227)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Valproic Acid(DB00313)|Vorinostat(DB02546)	GTAGTAGTAGCAGACTTTTTT	0.731																																					p.C13Y		.											.	HDAC2-660	0			c.G38A						.						2.0	2.0	2.0					6																	114292035		1367	3111	4478	SO:0001583	missense	3066	exon1			TAGTAGCAGACTT	U31814	CCDS43493.1, CCDS43493.2	6q21	2008-08-29			ENSG00000196591	ENSG00000196591			4853	protein-coding gene	gene with protein product		605164				9782097	Standard	NM_001527		Approved	RPD3, YAF1	uc003pwd.2	Q92769	OTTHUMG00000015411	ENST00000519065.1:c.38G>A	6.37:g.114292035C>T	ENSP00000430432:p.Cys13Tyr	1	0		29	13	NM_001527	0	0	24	61	37	B3KRS5|B4DL58|E1P561|Q5SRI8|Q5SZ86|Q8NEH4	Missense_Mutation	SNP	ENST00000519065.1	37	CCDS43493.2	.	.	.	.	.	.	.	.	.	.	C	22.2	4.263616	0.80358	.	.	ENSG00000196591	ENST00000519065;ENST00000398283;ENST00000425835;ENST00000521163	T;T;T	0.73047	-0.71;-0.71;1.61	4.31	4.31	0.51392	.	0.000000	0.64402	D	0.000004	T	0.76083	0.3938	M	0.79123	2.44	0.58432	D	0.999995	.	.	.	.	.	.	T	0.79885	-0.1614	8	0.87932	D	0	-13.1116	12.4943	0.55918	0.0:1.0:0.0:0.0	.	.	.	.	Y	13;107;3;13	ENSP00000430432:C13Y;ENSP00000381331:C107Y;ENSP00000417026:C3Y	ENSP00000381331:C107Y	C	-	2	0	HDAC2	114398728	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.400000	0.52594	2.383000	0.81215	0.561000	0.74099	TGC	.		0.731	HDAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041909.2		
HS3ST5	222537	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	114378976	114378976	+	Silent	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:114378976T>C	ENST00000312719.5	-	5	1674	c.486A>G	c.(484-486)acA>acG	p.T162T	HS3ST5_ENST00000411826.1_Silent_p.T162T|RP3-399L15.3_ENST00000523087.1_RNA|RP3-399L15.3_ENST00000519270.1_RNA|RP3-399L15.3_ENST00000519104.1_RNA			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	162					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|negative regulation of coagulation (GO:0050819)|protein sulfation (GO:0006477)|regulation of viral entry into host cell (GO:0046596)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)			breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		GAACCTCCTCTGTGATAAAAT	0.393																																					p.T162T		.											.	HS3ST5-92	0			c.A486G						.						147.0	151.0	149.0					6																	114378976		2203	4300	6503	SO:0001819	synonymous_variant	222537	exon2			CTCCTCTGTGATA	AF503292	CCDS34517.1	6q21	2011-11-16			ENSG00000249853	ENSG00000249853		"""Sulfotransferases, membrane-bound"""	19419	protein-coding gene	gene with protein product		609407				12138164	Standard	NM_153612		Approved	3-OST-5	uc003pwg.4	Q8IZT8	OTTHUMG00000015412	ENST00000312719.5:c.486A>G	6.37:g.114378976T>C		92	0		103	54	NM_153612	0	0	0	0	0	A8K1J2|Q52LI2|Q8N285	Silent	SNP	ENST00000312719.5	37	CCDS34517.1																																																																																			.		0.393	HS3ST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041911.2	NM_153612	
ROS1	6098	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	117665330	117665330	+	Missense_Mutation	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:117665330T>C	ENST00000368508.3	-	27	4615	c.4417A>G	c.(4417-4419)Aca>Gca	p.T1473A	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.T1467A	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	1473	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GTGAGGTTTGTCTTGGCCAGA	0.413			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																p.T1473A		.		Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"""O, E"""	.	ROS1-1353	0			c.A4417G						.						265.0	253.0	257.0					6																	117665330		2203	4300	6503	SO:0001583	missense	6098	exon27			GGTTTGTCTTGGC	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.4417A>G	6.37:g.117665330T>C	ENSP00000357494:p.Thr1473Ala	135	0		199	84	NM_002944	0	0	0	0	0	Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	T	3.007	-0.204812	0.06180	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	T;T	0.70164	-0.46;-0.45	5.16	2.72	0.32119	.	0.180773	0.39274	N	0.001420	T	0.23572	0.0570	N	0.19112	0.55	0.25143	N	0.99048	B	0.29862	0.259	B	0.22386	0.039	T	0.05084	-1.0907	10	0.39692	T	0.17	.	4.8869	0.13708	0.0:0.0962:0.1907:0.7131	.	1473	P08922	ROS1_HUMAN	A	1473;1467	ENSP00000357494:T1473A;ENSP00000357493:T1467A	ENSP00000357493:T1467A	T	-	1	0	ROS1	117772023	0.798000	0.28890	0.035000	0.18076	0.252000	0.25951	0.936000	0.28938	0.891000	0.36235	0.459000	0.35465	ACA	.		0.413	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1		
TBC1D32	221322	broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	121427246	121427246	+	Missense_Mutation	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:121427246A>G	ENST00000398212.2	-	30	3437	c.3388T>C	c.(3388-3390)Tat>Cat	p.Y1130H	TBC1D32_ENST00000275159.6_Missense_Mutation_p.Y1171H|TBC1D32_ENST00000398197.2_5'UTR	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	1130	Rab-GAP TBC.				cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)										ATTTCAATATAATGGGTGCTG	0.358																																					p.Y1130H		.											.	C6orf170-92	0			c.T3388C						.						179.0	176.0	177.0					6																	121427246		1845	4090	5935	SO:0001583	missense	221322	exon30			CAATATAATGGGT	AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"""broad-minded homolog"""	615867	"""chromosome 6 open reading frame 171"", ""chromosome 6 open reading frame 170"""	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.3388T>C	6.37:g.121427246A>G	ENSP00000381270:p.Tyr1130His	190	2		180	69	NM_152730	0	0	2	3	1	Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Missense_Mutation	SNP	ENST00000398212.2	37	CCDS43501.1	.	.	.	.	.	.	.	.	.	.	A	9.092	1.001883	0.19121	.	.	ENSG00000146350	ENST00000275159;ENST00000398212	T;T	0.26810	1.71;1.71	5.06	3.9	0.45041	Rab-GAP/TBC domain (1);	0.061103	0.64402	D	0.000002	T	0.14442	0.0349	L	0.52364	1.645	0.45161	D	0.998179	P	0.36974	0.576	B	0.40009	0.316	T	0.02333	-1.1175	10	0.52906	T	0.07	.	10.5343	0.44994	0.9237:0.0:0.0763:0.0	.	1130	Q96NH3	BROMI_HUMAN	H	1171;1130	ENSP00000275159:Y1171H;ENSP00000381270:Y1130H	ENSP00000275159:Y1171H	Y	-	1	0	C6orf170	121468945	1.000000	0.71417	0.327000	0.25402	0.004000	0.04260	2.591000	0.46163	1.045000	0.40225	-0.270000	0.10280	TAT	.		0.358	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380937.2	NM_152730	
HEY2	23493	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	126080476	126080476	+	Missense_Mutation	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:126080476A>G	ENST00000368364.3	+	5	739	c.542A>G	c.(541-543)cAc>cGc	p.H181R	HEY2_ENST00000368365.1_Missense_Mutation_p.H135R	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN	hes-related family bHLH transcription factor with YRPW motif 2	181	His-rich.				anterior/posterior axis specification (GO:0009948)|arterial endothelial cell differentiation (GO:0060842)|ascending aorta morphogenesis (GO:0035910)|atrial septum morphogenesis (GO:0060413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate commitment (GO:0045165)|cochlea development (GO:0090102)|coronary vasculature morphogenesis (GO:0060977)|dorsal aorta morphogenesis (GO:0035912)|endocardial cushion to mesenchymal transition involved in heart valve formation (GO:0003199)|heart trabecula formation (GO:0060347)|labyrinthine layer blood vessel development (GO:0060716)|mesenchymal cell development (GO:0014031)|muscular septum morphogenesis (GO:0003150)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cardiac vascular smooth muscle cell differentiation (GO:2000723)|negative regulation of gene expression (GO:0010629)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription by transcription factor localization (GO:0010621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000820)|negative regulation of transcription initiation from RNA polymerase II promoter (GO:0060633)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of heart rate (GO:0010460)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein-DNA complex assembly (GO:0065004)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of auditory receptor cell differentiation (GO:0045607)|regulation of vasculogenesis (GO:2001212)|smooth muscle cell differentiation (GO:0051145)|tricuspid valve formation (GO:0003195)|tricuspid valve morphogenesis (GO:0003186)|umbilical cord morphogenesis (GO:0036304)|vascular smooth muscle cell development (GO:0097084)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	histone deacetylase binding (GO:0042826)|microsatellite binding (GO:0035939)|protein binding transcription factor activity (GO:0000988)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		CATCCGCTCCACCCGCATCAC	0.682																																					p.H181R		.											.	HEY2-658	0			c.A542G						.						76.0	80.0	79.0					6																	126080476		2203	4298	6501	SO:0001583	missense	23493	exon5			CGCTCCACCCGCA	AJ249545	CCDS5131.1	6q	2013-10-17	2013-10-17		ENSG00000135547	ENSG00000135547		"""Basic helix-loop-helix proteins"""	4881	protein-coding gene	gene with protein product		604674	"""hairy/enhancer-of-split related with YRPW motif 2"""			10415358	Standard	NM_012259		Approved	bHLHb32, HERP1, HESR2	uc003qad.3	Q9UBP5	OTTHUMG00000015512	ENST00000368364.3:c.542A>G	6.37:g.126080476A>G	ENSP00000357348:p.His181Arg	56	0		69	31	NM_012259	0	0	2	2	0		Missense_Mutation	SNP	ENST00000368364.3	37	CCDS5131.1	.	.	.	.	.	.	.	.	.	.	A	12.62	1.993878	0.35131	.	.	ENSG00000135547	ENST00000368365;ENST00000368364	T;T	0.57907	0.37;0.37	5.49	5.49	0.81192	.	0.894418	0.09755	N	0.759981	T	0.38295	0.1035	L	0.36672	1.1	0.48632	D	0.999684	P	0.49185	0.92	P	0.46796	0.527	T	0.14035	-1.0487	10	0.23891	T	0.37	-23.645	15.5841	0.76468	1.0:0.0:0.0:0.0	.	181	Q9UBP5	HEY2_HUMAN	R	135;181	ENSP00000357349:H135R;ENSP00000357348:H181R	ENSP00000357348:H181R	H	+	2	0	HEY2	126122169	0.999000	0.42202	0.172000	0.22920	0.611000	0.37282	4.831000	0.62752	2.084000	0.62774	0.459000	0.35465	CAC	.		0.682	HEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042077.1		
CENPW	387103	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	126667370	126667370	+	Missense_Mutation	SNP	T	T	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:126667370T>G	ENST00000368328.4	+	2	246	c.146T>G	c.(145-147)cTg>cGg	p.L49R	CENPW_ENST00000368325.1_Missense_Mutation_p.L64R|CENPW_ENST00000368326.1_Intron			Q5EE01	CENPW_HUMAN	centromere protein W	49					CENP-A containing nucleosome assembly (GO:0034080)|chromosome organization (GO:0051276)|chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|kinetochore (GO:0000776)|nucleus (GO:0005634)	DNA binding (GO:0003677)			kidney(2)|large_intestine(1)|lung(3)	6						AACTGTTTACTGTTTGTTCAT	0.353																																					p.L49R		.											.	CENPW-90	0			c.T146G						.						122.0	118.0	119.0					6																	126667370		2203	4300	6503	SO:0001583	missense	387103	exon2			GTTTACTGTTTGT	BC039556	CCDS34529.1, CCDS69196.1, CCDS75516.1	6q22.32	2013-11-05	2010-04-16	2010-04-16	ENSG00000203760	ENSG00000203760			21488	protein-coding gene	gene with protein product	"""cancer-upregulated gene 2"""	611264	"""chromosome 6 open reading frame 173"""	C6orf173		17610844, 19070575	Standard	NM_001286524		Approved	CUG2	uc003qao.3	Q5EE01	OTTHUMG00000015518	ENST00000368328.4:c.146T>G	6.37:g.126667370T>G	ENSP00000357311:p.Leu49Arg	71	0		83	39	NM_001012507	0	0	39	72	33	A6NIR0|A6NJC2	Missense_Mutation	SNP	ENST00000368328.4	37	CCDS34529.1	.	.	.	.	.	.	.	.	.	.	T	19.52	3.843931	0.71488	.	.	ENSG00000203760	ENST00000368325;ENST00000368328	T	0.23950	1.88	5.74	5.74	0.90152	Histone-fold (1);	0.000000	0.34435	N	0.003965	T	0.40743	0.1129	.	.	.	0.33615	D	0.604109	D	0.89917	1.0	D	0.91635	0.999	T	0.51957	-0.8639	9	0.87932	D	0	0.4638	12.4337	0.55588	0.0:0.0:0.0:1.0	.	49	Q5EE01	CENPW_HUMAN	R	64;49	ENSP00000357311:L49R	ENSP00000357308:L64R	L	+	2	0	CENPW	126709063	0.997000	0.39634	0.744000	0.31058	0.979000	0.70002	4.704000	0.61831	2.179000	0.69175	0.533000	0.62120	CTG	.		0.353	CENPW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042104.1		
LAMA2	3908	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	129204502	129204502	+	Splice_Site	SNP	G	G	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:129204502G>C	ENST00000421865.2	+	1	161	c.112G>C	c.(112-114)Ggt>Cgt	p.G38R		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	38	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TCAGCAAAGAGGTACAGTCGA	0.632																																					p.G38R		.											.	LAMA2-162	0			c.G112C						.						24.0	21.0	22.0					6																	129204502		2194	4295	6489	SO:0001630	splice_region_variant	3908	exon1			CAAAGAGGTACAG	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.112+1G>C	6.37:g.129204502G>C		68	0		134	58	NM_000426	0	0	0	0	0	Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.135190	0.77662	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.30714	1.52	5.2	5.2	0.72013	Laminin, N-terminal (2);	0.000000	0.64402	D	0.000001	T	0.42517	0.1206	L	0.55834	1.745	0.53688	D	0.999977	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.29305	-1.0016	10	0.62326	D	0.03	.	14.5792	0.68274	0.0:0.0:1.0:0.0	.	38;38	A6NF00;P24043	.;LAMA2_HUMAN	R	38	ENSP00000400365:G38R	ENSP00000346769:G38R	G	+	1	0	LAMA2	129246195	1.000000	0.71417	1.000000	0.80357	0.689000	0.40095	4.144000	0.58057	2.582000	0.87167	0.455000	0.32223	GGT	.		0.632	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1		Missense_Mutation
ARHGAP18	93663	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	129950582	129950582	+	Silent	SNP	T	T	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:129950582T>A	ENST00000368149.2	-	5	790	c.702A>T	c.(700-702)gtA>gtT	p.V234V		NM_033515.2	NP_277050.2			Rho GTPase activating protein 18											NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		CGGCAAATGATACCTCCAGGT	0.522																																					p.V234V		.											.	ARHGAP18-230	0			c.A702T						.						139.0	140.0	140.0					6																	129950582		2203	4300	6503	SO:0001819	synonymous_variant	93663	exon5			AAATGATACCTCC	AB053293	CCDS34535.1	6q23.1	2011-06-29			ENSG00000146376	ENSG00000146376		"""Rho GTPase activating proteins"""	21035	protein-coding gene	gene with protein product		613351					Standard	NM_033515		Approved	MacGAP, bA307O14.2	uc003qbr.3	Q8N392	OTTHUMG00000015547	ENST00000368149.2:c.702A>T	6.37:g.129950582T>A		43	0		59	30	NM_033515	0	0	29	53	24		Silent	SNP	ENST00000368149.2	37	CCDS34535.1																																																																																			.		0.522	ARHGAP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042185.2	NM_033515	
MOXD1	26002	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	132645213	132645213	+	Missense_Mutation	SNP	T	T	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:132645213T>A	ENST00000367963.3	-	7	1088	c.970A>T	c.(970-972)Agg>Tgg	p.R324W	MOXD1_ENST00000336749.3_Missense_Mutation_p.R256W|MOXD1_ENST00000489128.1_5'UTR	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	324						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		TAAAATAACCTCAGTCCAGAA	0.388																																					p.R324W		.											.	MOXD1-515	0			c.A970T						.						99.0	100.0	100.0					6																	132645213		2203	4300	6503	SO:0001583	missense	26002	exon7			ATAACCTCAGTCC	AY007239	CCDS5152.2	6q23.2	2010-09-24			ENSG00000079931	ENSG00000079931			21063	protein-coding gene	gene with protein product		609000				9751809	Standard	XM_006715456		Approved	DKFZP564G202, MOX, dJ248E1.1	uc003qdf.3	Q6UVY6	OTTHUMG00000055853	ENST00000367963.3:c.970A>T	6.37:g.132645213T>A	ENSP00000356940:p.Arg324Trp	110	0		131	42	NM_015529	0	0	1	2	1	Q5THU6|Q8NC97|Q8WV49|Q9H4M6|Q9Y4U3	Missense_Mutation	SNP	ENST00000367963.3	37	CCDS5152.2	.	.	.	.	.	.	.	.	.	.	T	19.68	3.872647	0.72180	.	.	ENSG00000079931	ENST00000367963;ENST00000336749	T;T	0.37584	1.19;1.19	5.75	4.56	0.56223	Copper type II, ascorbate-dependent monooxygenase, N-terminal (1);PHM/PNGase F domain (1);	0.053831	0.64402	D	0.000001	T	0.59891	0.2227	M	0.93462	3.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.71199	-0.4663	10	0.87932	D	0	-10.0972	11.7071	0.51603	0.0:0.0:0.2816:0.7184	.	324;256	Q6UVY6;Q6UVY6-2	MOXD1_HUMAN;.	W	324;256	ENSP00000356940:R324W;ENSP00000336998:R256W	ENSP00000336998:R256W	R	-	1	2	MOXD1	132686906	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	1.719000	0.38011	0.970000	0.38263	0.460000	0.39030	AGG	.		0.388	MOXD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000125837.1	NM_015529	
IL20RA	53832	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	137329836	137329836	+	Silent	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:137329836C>T	ENST00000316649.5	-	5	859	c.624G>A	c.(622-624)ctG>ctA	p.L208L	IL20RA_ENST00000367748.1_Silent_p.L97L|IL20RA_ENST00000541547.1_Silent_p.L159L|IL20RA_ENST00000468393.1_5'UTR	NM_001278722.1|NM_014432.2	NP_001265651.1|NP_055247	Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha	208	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of bone resorption (GO:0045124)	integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		TGTTCGGCTCCAGCCAGGTGA	0.567																																					p.L208L		.											.	IL20RA-94	0			c.G624A						.						79.0	70.0	73.0					6																	137329836		2203	4300	6503	SO:0001819	synonymous_variant	53832	exon5			CGGCTCCAGCCAG	AF184971	CCDS5181.1, CCDS64535.1, CCDS64536.1	6q23.3	2008-02-05			ENSG00000016402	ENSG00000016402		"""Interleukins and interleukin receptors"""	6003	protein-coding gene	gene with protein product		605620				10875937, 11163236	Standard	NM_001278724		Approved	ZCYTOR7, IL-20R1	uc003qhj.3	Q9UHF4	OTTHUMG00000015654	ENST00000316649.5:c.624G>A	6.37:g.137329836C>T		79	0		108	36	NM_014432	0	0	5	9	4	B4DLR5|F5H675|Q14CW2|Q6UWA9|Q96SH8	Silent	SNP	ENST00000316649.5	37	CCDS5181.1																																																																																			.		0.567	IL20RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042393.1	NM_014432	
REPS1	85021	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	139237076	139237076	+	Missense_Mutation	SNP	G	G	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:139237076G>C	ENST00000450536.2	-	14	2213	c.1639C>G	c.(1639-1641)Cca>Gca	p.P547A	REPS1_ENST00000367663.4_Missense_Mutation_p.P520A|REPS1_ENST00000409812.2_Intron|REPS1_ENST00000415951.2_Missense_Mutation_p.P520A|REPS1_ENST00000258062.5_Missense_Mutation_p.P546A			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	547	Pro-rich.				receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|SH3 domain binding (GO:0017124)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		GGGGGAGGTGGTGGTGCAGTG	0.448																																					p.P546A		.											.	REPS1-522	0			c.C1636G						.						138.0	117.0	124.0					6																	139237076		2203	4300	6503	SO:0001583	missense	85021	exon14			GAGGTGGTGGTGC		CCDS5193.2, CCDS47488.1, CCDS69212.1, CCDS69213.1	6q24.1	2013-01-10			ENSG00000135597	ENSG00000135597		"""EF-hand domain containing"""	15578	protein-coding gene	gene with protein product		614825					Standard	XM_005267177		Approved		uc011edr.2	Q96D71	OTTHUMG00000015685	ENST00000450536.2:c.1639C>G	6.37:g.139237076G>C	ENSP00000392065:p.Pro547Ala	87	0		173	90	NM_031922	0	0	35	64	29	B7ZBZ8|B7ZBZ9|B7ZC00|J3KP76|Q5JWJ5|Q5JWJ6|Q5JWJ7|Q8NDR7|Q8WU62|Q9BXY9	Missense_Mutation	SNP	ENST00000450536.2	37		.	.	.	.	.	.	.	.	.	.	G	28.1	4.891962	0.91889	.	.	ENSG00000135597	ENST00000450536;ENST00000367663;ENST00000529597;ENST00000258062;ENST00000415951;ENST00000367668	T;T;T;T;T	0.62232	0.07;0.04;0.34;0.11;0.11	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.72882	0.3516	M	0.77616	2.38	0.80722	D	1	D;D;D;P	0.89917	1.0;1.0;0.999;0.877	D;D;D;B	0.85130	0.997;0.996;0.994;0.411	T	0.66956	-0.5792	10	0.09084	T	0.74	-13.0978	20.422	0.99049	0.0:0.0:1.0:0.0	.	546;495;547;520	Q96D71-3;B2R7D3;Q96D71;E9PMG1	.;.;REPS1_HUMAN;.	A	547;520;505;546;520;495	ENSP00000392065:P547A;ENSP00000356635:P520A;ENSP00000434251:P505A;ENSP00000258062:P546A;ENSP00000397941:P520A	ENSP00000258062:P546A	P	-	1	0	REPS1	139278769	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.961000	0.93122	2.832000	0.97577	0.655000	0.94253	CCA	.		0.448	REPS1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000042447.3		
HECA	51696	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	139488123	139488123	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:139488123G>A	ENST00000367658.2	+	2	1259	c.974G>A	c.(973-975)aGc>aAc	p.S325N	RP1-225E12.2_ENST00000586266.1_RNA|RP1-225E12.2_ENST00000590679.1_RNA|RP1-225E12.2_ENST00000415194.2_RNA|RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.2_ENST00000587577.1_RNA|RP1-225E12.2_ENST00000591102.1_RNA|RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.3_ENST00000585874.1_RNA	NM_016217.2	NP_057301.1	Q9UBI9	HDC_HUMAN	headcase homolog (Drosophila)	325					respiratory tube development (GO:0030323)	membrane (GO:0016020)				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		TTTGATTACAGCCCTGCGGGG	0.587																																					p.S325N		.											.	HECA-90	0			c.G974A						.						49.0	53.0	52.0					6																	139488123		2202	4300	6502	SO:0001583	missense	51696	exon2			ATTACAGCCCTGC	AB033492	CCDS5194.1	6q23-q24	2010-11-25			ENSG00000112406	ENSG00000112406			21041	protein-coding gene	gene with protein product		607977				11696983, 19643820	Standard	NM_016217		Approved	HDCL, hHDC, HDC, dJ225E12.1	uc003qin.3	Q9UBI9	OTTHUMG00000015686	ENST00000367658.2:c.974G>A	6.37:g.139488123G>A	ENSP00000356630:p.Ser325Asn	29	0		33	14	NM_016217	0	0	4	5	1		Missense_Mutation	SNP	ENST00000367658.2	37	CCDS5194.1	.	.	.	.	.	.	.	.	.	.	G	7.037	0.561838	0.13498	.	.	ENSG00000112406	ENST00000367658	.	.	.	5.07	2.29	0.28610	.	1.134390	0.06364	N	0.712249	T	0.11153	0.0272	N	0.14661	0.345	0.21499	N	0.999663	B	0.02656	0.0	B	0.04013	0.001	T	0.33954	-0.9848	9	0.33940	T	0.23	.	10.2609	0.43425	0.0695:0.2562:0.6743:0.0	.	325	Q9UBI9	HDC_HUMAN	N	325	.	ENSP00000356630:S325N	S	+	2	0	HECA	139529816	1.000000	0.71417	0.010000	0.14722	0.084000	0.17831	5.947000	0.70242	0.308000	0.22923	-0.300000	0.09419	AGC	.		0.587	HECA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042456.1	NM_016217	
HIVEP2	3097	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	143074762	143074762	+	Missense_Mutation	SNP	G	G	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:143074762G>T	ENST00000367604.1	-	9	7462	c.6823C>A	c.(6823-6825)Ccc>Acc	p.P2275T	RP1-67K17.3_ENST00000437067.1_RNA|HIVEP2_ENST00000012134.2_Missense_Mutation_p.P2275T|HIVEP2_ENST00000367603.2_Missense_Mutation_p.P2275T			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	2275					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		AGCACATAGGGGTCCTTGGAG	0.552																																					p.P2275T	Esophageal Squamous(107;843 1510 13293 16805 42198)	.											.	HIVEP2-95	0			c.C6823A						.						66.0	69.0	68.0					6																	143074762		1965	4157	6122	SO:0001583	missense	3097	exon10			CATAGGGGTCCTT	M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.6823C>A	6.37:g.143074762G>T	ENSP00000356576:p.Pro2275Thr	83	0		81	40	NM_006734	0	0	9	12	3	Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	ENST00000367604.1	37	CCDS43510.1	.	.	.	.	.	.	.	.	.	.	G	0.233	-1.019228	0.02078	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.02421	4.3;4.3;4.3	5.78	4.9	0.64082	.	0.194227	0.56097	D	0.000036	T	0.01454	0.0047	L	0.55481	1.735	0.32995	D	0.525496	B	0.26318	0.146	B	0.24974	0.057	T	0.40156	-0.9578	10	0.46703	T	0.11	-11.5256	8.1697	0.31247	0.1053:0.1582:0.7365:0.0	.	2275	P31629	ZEP2_HUMAN	T	2275	ENSP00000356576:P2275T;ENSP00000356575:P2275T;ENSP00000012134:P2275T	ENSP00000012134:P2275T	P	-	1	0	HIVEP2	143116455	0.991000	0.36638	0.998000	0.56505	0.074000	0.17049	2.422000	0.44696	1.411000	0.46957	0.655000	0.94253	CCC	.		0.552	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1		
UTRN	7402	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	6	145160331	145160331	+	Missense_Mutation	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:145160331A>G	ENST00000367545.3	+	71	10088	c.10088A>G	c.(10087-10089)aAt>aGt	p.N3363S	UTRN_ENST00000367526.4_Missense_Mutation_p.N918S	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	3363					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TCCCGAATCAATGGTGTTTCC	0.483																																					p.N3363S		.											.	UTRN-95	0			c.A10088G						.						132.0	116.0	121.0					6																	145160331		2203	4300	6503	SO:0001583	missense	7402	exon71			GAATCAATGGTGT	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.10088A>G	6.37:g.145160331A>G	ENSP00000356515:p.Asn3363Ser	28	0		31	10	NM_007124	0	0	13	26	13	Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	A	13.53	2.265968	0.40095	.	.	ENSG00000152818	ENST00000367545;ENST00000367526	T;T	0.61742	0.08;3.44	5.76	5.76	0.90799	.	0.000000	0.64402	D	0.000020	T	0.57184	0.2036	M	0.65498	2.005	0.35579	D	0.80615	P	0.37015	0.578	P	0.46076	0.503	T	0.65759	-0.6090	10	0.66056	D	0.02	.	16.3634	0.83296	1.0:0.0:0.0:0.0	.	3363	P46939	UTRO_HUMAN	S	3363;918	ENSP00000356515:N3363S;ENSP00000356496:N918S	ENSP00000356496:N918S	N	+	2	0	UTRN	145202024	1.000000	0.71417	0.962000	0.40283	0.233000	0.25261	7.089000	0.76909	2.324000	0.78689	0.533000	0.62120	AAT	.		0.483	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1		
SHPRH	257218	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	146214396	146214396	+	Missense_Mutation	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:146214396T>C	ENST00000367505.2	-	28	5093	c.4829A>G	c.(4828-4830)cAt>cGt	p.H1610R	SHPRH_ENST00000275233.7_Missense_Mutation_p.H1610R|SHPRH_ENST00000438092.2_Missense_Mutation_p.H1614R|SHPRH_ENST00000367503.3_Missense_Mutation_p.H1614R			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	1610	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		CTGAAGCTCATGGGCAGGGTT	0.433																																					p.H1614R		.											.	SHPRH-92	0			c.A4841G						.						92.0	89.0	90.0					6																	146214396		1863	4098	5961	SO:0001583	missense	257218	exon28			AGCTCATGGGCAG	AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"""RING-type (C3HC4) zinc fingers"""	19336	protein-coding gene	gene with protein product		608048	"""SNF2 histone linker PHD RING helicase"""			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.4829A>G	6.37:g.146214396T>C	ENSP00000356475:p.His1610Arg	95	0		155	72	NM_173082	0	0	7	8	1	Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP	ENST00000367505.2	37	CCDS43513.2	.	.	.	.	.	.	.	.	.	.	T	17.94	3.512340	0.64522	.	.	ENSG00000146414	ENST00000417762;ENST00000367507;ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233	T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0	5.44	4.27	0.50696	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.30324	0.0761	N	0.17312	0.475	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.10660	-1.0620	10	0.22109	T	0.4	-17.2753	11.3497	0.49581	0.0:0.0716:0.0:0.9284	.	1610;1614	Q149N8;Q149N8-4	SHPRH_HUMAN;.	R	32;58;1610;1614;1614;1610	ENSP00000403790:H32R;ENSP00000356475:H1610R;ENSP00000356473:H1614R;ENSP00000412797:H1614R;ENSP00000275233:H1610R	ENSP00000275233:H1610R	H	-	2	0	SHPRH	146256089	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.186000	0.72026	0.890000	0.36211	0.477000	0.44152	CAT	.		0.433	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082	
SHPRH	257218	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	146248371	146248371	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:146248371C>T	ENST00000367505.2	-	15	3419	c.3155G>A	c.(3154-3156)cGc>cAc	p.R1052H	SHPRH_ENST00000275233.7_Missense_Mutation_p.R1052H|SHPRH_ENST00000438092.2_Missense_Mutation_p.R1061H|SHPRH_ENST00000367503.3_Missense_Mutation_p.R1061H			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	1052					DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		CTCCGAGGAGCGCAACACTTC	0.348																																					p.R1061H		.											.	SHPRH-92	0			c.G3182A						.						136.0	118.0	123.0					6																	146248371		1855	4099	5954	SO:0001583	missense	257218	exon15			GAGGAGCGCAACA	AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"""RING-type (C3HC4) zinc fingers"""	19336	protein-coding gene	gene with protein product		608048	"""SNF2 histone linker PHD RING helicase"""			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.3155G>A	6.37:g.146248371C>T	ENSP00000356475:p.Arg1052His	53	0		47	7	NM_173082	0	0	3	3	0	Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP	ENST00000367505.2	37	CCDS43513.2	.	.	.	.	.	.	.	.	.	.	C	35	5.431050	0.96150	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233	T;T;T;T	0.75589	-0.95;-0.94;-0.93;-0.95	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000001	D	0.85274	0.5659	M	0.77103	2.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.84677	0.0715	10	0.52906	T	0.07	-17.2758	19.8769	0.96880	0.0:1.0:0.0:0.0	.	1052;1061	Q149N8;Q149N8-4	SHPRH_HUMAN;.	H	1052;1061;1061;1052	ENSP00000356475:R1052H;ENSP00000356473:R1061H;ENSP00000412797:R1061H;ENSP00000275233:R1052H	ENSP00000275233:R1052H	R	-	2	0	SHPRH	146290064	1.000000	0.71417	0.996000	0.52242	0.970000	0.65996	7.464000	0.80887	2.767000	0.95098	0.557000	0.71058	CGC	.		0.348	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082	
LRP11	84918	hgsc.bcm.edu	37	6	150184882	150184882	+	Missense_Mutation	SNP	G	G	C	rs9322225	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:150184882G>C	ENST00000239367.2	-	1	280	c.275C>G	c.(274-276)cCg>cGg	p.P92R	LRP11_ENST00000546019.1_Intron|LRP11_ENST00000367368.2_Missense_Mutation_p.P92R|RP11-244K5.8_ENST00000596229.1_RNA|RP11-244K5.8_ENST00000606915.1_RNA	NM_032832.5	NP_116221.3	Q86VZ4	LRP11_HUMAN	low density lipoprotein receptor-related protein 11	92			P -> R (in dbSNP:rs9322225). {ECO:0000269|PubMed:15489334}.			integral component of membrane (GO:0016021)				cervix(1)|kidney(5)|large_intestine(1)|lung(1)	8		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225)		GCCGCTGCCCGGGCCCGGGCA	0.756													g|||	2394	0.478035	0.3071	0.5101	5008	,	,		7691	0.8224		0.4165	False		,,,				2504	0.3947				p.P92R		.											.	LRP11-90	0			c.C275G						.	G	ARG/PRO	799,1991		151,497,747	2.0	2.0	2.0		275	3.0	0.3	6	dbSNP_119	2	2072,3740		444,1184,1278	yes	missense	LRP11	NM_032832.5	103	595,1681,2025	CC,CG,GG		35.6504,28.638,33.376	possibly-damaging	92/501	150184882	2871,5731	1395	2906	4301	SO:0001583	missense	84918	exon1			CTGCCCGGGCCCG	AK027641	CCDS5220.1	6q24.3	2013-02-27			ENSG00000120256	ENSG00000120256		"""Low density lipoprotein receptors"""	16936	protein-coding gene	gene with protein product							Standard	NM_032832		Approved	bA350J20.3, MANSC3	uc003qng.2	Q86VZ4	OTTHUMG00000015801	ENST00000239367.2:c.275C>G	6.37:g.150184882G>C	ENSP00000239367:p.Pro92Arg	0	0		11	7	NM_032832	0	0	2	3	1	Q5VYC0|Q96SN6	Missense_Mutation	SNP	ENST00000239367.2	37	CCDS5220.1	1110	0.5082417582417582	147	0.29878048780487804	188	0.5193370165745856	465	0.8129370629370629	310	0.40897097625329815	G	12.02	1.812850	0.32053	0.28638	0.356504	ENSG00000120256	ENST00000239367;ENST00000367368	T;T	0.20463	2.07;2.07	3.91	2.96	0.34315	Seven cysteines, N-terminal (2);	1.059560	0.07539	N	0.913589	T	0.07279	0.0184	L	0.36672	1.1	0.51767	P	7.00000000000145E-5	B;B	0.25743	0.133;0.012	B;B	0.23150	0.044;0.025	T	0.19484	-1.0304	9	0.19590	T	0.45	-4.154	11.8365	0.52327	0.0:0.1787:0.8213:0.0	rs9322225;rs17846346;rs17859381	92;92	Q5VYB9;Q86VZ4	.;LRP11_HUMAN	R	92	ENSP00000239367:P92R;ENSP00000356338:P92R	ENSP00000239367:P92R	P	-	2	0	LRP11	150226575	0.132000	0.22450	0.342000	0.25602	0.428000	0.31595	0.489000	0.22387	1.900000	0.55004	0.484000	0.47621	CCG	G|0.492;C|0.508		0.756	LRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042664.1	NM_032832	
RAET1L	154064	broad.mit.edu;bcgsc.ca	37	6	150343331	150343331	+	Missense_Mutation	SNP	G	G	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:150343331G>T	ENST00000367341.1	-	2	133	c.134C>A	c.(133-135)cCt>cAt	p.P45H	RAET1L_ENST00000286380.2_Missense_Mutation_p.P45H			Q5VY80	RET1L_HUMAN	retinoic acid early transcript 1L	45	MHC class I alpha-1 like. {ECO:0000250}.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.4e-12)		CCGTGGTCCAGGTCTGAACTT	0.542																																					p.P45H		.											.	RAET1L-90	0			c.C134A						.						6.0	5.0	5.0					6																	150343331		1378	2539	3917	SO:0001583	missense	154064	exon2			GGTCCAGGTCTGA	AY039682	CCDS5224.1	6q24.1-25.1	2008-02-05			ENSG00000155918	ENSG00000155918			16798	protein-coding gene	gene with protein product		611047				11827464	Standard	NM_130900		Approved		uc011eei.2	Q5VY80	OTTHUMG00000015809	ENST00000367341.1:c.134C>A	6.37:g.150343331G>T	ENSP00000356310:p.Pro45His	521	1		583	162	NM_130900	0	0	162	162	0	A3KME4|Q8TE74	Missense_Mutation	SNP	ENST00000367341.1	37	CCDS5224.1	.	.	.	.	.	.	.	.	.	.	g	9.719	1.159142	0.21454	.	.	ENSG00000155918	ENST00000367341;ENST00000286380	T;T	0.07800	3.16;3.16	1.91	1.01	0.19927	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.	.	.	.	T	0.05318	0.0141	L	0.52206	1.635	0.09310	N	1	P	0.48407	0.91	P	0.53912	0.737	T	0.30416	-0.9979	9	0.39692	T	0.17	.	4.3368	0.11090	0.2092:0.0:0.7908:0.0	.	45	Q5VY80	RET1L_HUMAN	H	45	ENSP00000356310:P45H;ENSP00000286380:P45H	ENSP00000286380:P45H	P	-	2	0	RAET1L	150385024	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.076000	0.14712	0.364000	0.24374	-0.339000	0.08088	CCT	.		0.542	RAET1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042676.1	NM_130900	
AKAP12	9590	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	151672050	151672050	+	Missense_Mutation	SNP	G	G	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:151672050G>T	ENST00000253332.1	+	3	2713	c.2524G>T	c.(2524-2526)Gat>Tat	p.D842Y	AKAP12_ENST00000402676.2_Missense_Mutation_p.D842Y|AKAP12_ENST00000359755.5_Missense_Mutation_p.D737Y|AKAP12_ENST00000354675.6_Missense_Mutation_p.D744Y			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	842					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		AGATGACTCTGATGTCCCGGC	0.532																																					p.D842Y	Melanoma(141;1616 1805 10049 24534 51979)	.											.	AKAP12-293	0			c.G2524T						.						91.0	103.0	99.0					6																	151672050		2203	4300	6503	SO:0001583	missense	9590	exon4			GACTCTGATGTCC	U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"""A-kinase anchor proteins"""	370	protein-coding gene	gene with protein product	"""gravin"", ""Src-Suppressed C Kinase Substrate"""	604698	"""A kinase (PRKA) anchor protein (gravin) 12"""			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.2524G>T	6.37:g.151672050G>T	ENSP00000253332:p.Asp842Tyr	243	1		317	131	NM_005100	0	0	4	4	0	O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Missense_Mutation	SNP	ENST00000253332.1	37	CCDS5229.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.992864	0.74703	.	.	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.16196	2.36;2.36;2.38;2.38	5.49	4.63	0.57726	.	0.000000	0.45361	D	0.000378	T	0.32823	0.0842	M	0.77103	2.36	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.995;0.988	T	0.26573	-1.0099	10	0.72032	D	0.01	.	14.3966	0.67015	0.0708:0.0:0.9292:0.0	.	737;744;842	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	Y	842;842;744;737	ENSP00000384537:D842Y;ENSP00000253332:D842Y;ENSP00000346702:D744Y;ENSP00000352794:D737Y	ENSP00000253332:D842Y	D	+	1	0	AKAP12	151713743	1.000000	0.71417	0.103000	0.21229	0.018000	0.09664	9.869000	0.99810	1.326000	0.45319	0.561000	0.74099	GAT	.		0.532	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1		
AKAP12	9590	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	151673402	151673402	+	Missense_Mutation	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:151673402A>G	ENST00000253332.1	+	3	4065	c.3876A>G	c.(3874-3876)atA>atG	p.I1292M	AKAP12_ENST00000402676.2_Missense_Mutation_p.I1292M|AKAP12_ENST00000359755.5_Missense_Mutation_p.I1187M|AKAP12_ENST00000354675.6_Missense_Mutation_p.I1194M			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1292					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		ACACAGGCATAACAGTCAGTC	0.463																																					p.I1292M	Melanoma(141;1616 1805 10049 24534 51979)	.											.	AKAP12-293	0			c.A3876G						.						88.0	86.0	86.0					6																	151673402		2203	4300	6503	SO:0001583	missense	9590	exon4			AGGCATAACAGTC	U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"""A-kinase anchor proteins"""	370	protein-coding gene	gene with protein product	"""gravin"", ""Src-Suppressed C Kinase Substrate"""	604698	"""A kinase (PRKA) anchor protein (gravin) 12"""			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.3876A>G	6.37:g.151673402A>G	ENSP00000253332:p.Ile1292Met	137	0		239	107	NM_005100	0	0	3	3	0	O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Missense_Mutation	SNP	ENST00000253332.1	37	CCDS5229.1	.	.	.	.	.	.	.	.	.	.	A	8.552	0.875698	0.17395	.	.	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.07688	3.17;3.17;3.18;3.18	4.26	1.81	0.25067	.	2.531320	0.01669	N	0.025482	T	0.02047	0.0064	N	0.24115	0.695	0.09310	N	1	B;B;B	0.20780	0.048;0.048;0.028	B;B;B	0.16289	0.015;0.015;0.006	T	0.38564	-0.9655	10	0.48119	T	0.1	.	5.4724	0.16678	0.5381:0.0:0.4619:0.0	.	1187;1194;1292	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	M	1292;1292;1194;1187	ENSP00000384537:I1292M;ENSP00000253332:I1292M;ENSP00000346702:I1194M;ENSP00000352794:I1187M	ENSP00000253332:I1292M	I	+	3	3	AKAP12	151715095	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.354000	0.07681	0.696000	0.31696	0.455000	0.32223	ATA	.		0.463	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1		
CNKSR3	154043	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	154732089	154732089	+	Nonsense_Mutation	SNP	T	T	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:154732089T>A	ENST00000607772.1	-	11	1802	c.1258A>T	c.(1258-1260)Aga>Tga	p.R420*	CNKSR3_ENST00000479339.1_Nonsense_Mutation_p.R340*|CNKSR3_ENST00000433165.2_Nonsense_Mutation_p.R245*	NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	420	DUF1170.				negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)	cytoplasm (GO:0005737)|membrane (GO:0016020)				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		GTTTTCTCTCTCATTTTTGTG	0.493																																					p.R420X		.											.	CNKSR3-26	0			c.A1258T						.						169.0	159.0	163.0					6																	154732089		2203	4300	6503	SO:0001587	stop_gained	154043	exon11			TCTCTCTCATTTT	AK055911	CCDS5246.1	6q25.2	2013-01-10	2005-04-11	2005-04-11	ENSG00000153721	ENSG00000153721		"""Sterile alpha motif (SAM) domain containing"""	23034	protein-coding gene	gene with protein product			"""membrane associated guanylate kinase interacting protein-like 1"""	MAGI1			Standard	NM_173515		Approved	FLJ31349		Q6P9H4	OTTHUMG00000015873	ENST00000607772.1:c.1258A>T	6.37:g.154732089T>A	ENSP00000475915:p.Arg420*	110	0		113	40	NM_173515	0	0	4	4	0	Q5SGD5|Q96N65	Nonsense_Mutation	SNP	ENST00000607772.1	37	CCDS5246.1	.	.	.	.	.	.	.	.	.	.	T	42	9.436998	0.99171	.	.	ENSG00000153721	ENST00000367213;ENST00000433165;ENST00000479339	.	.	.	5.55	5.55	0.83447	.	0.164121	0.53938	D	0.000049	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.71	0.77620	0.0:0.0:0.0:1.0	.	.	.	.	X	420;245;340	.	ENSP00000356182:R420X	R	-	1	2	CNKSR3	154773781	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.774000	0.55341	2.105000	0.64084	0.533000	0.62120	AGA	.		0.493	CNKSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042792.2	NM_173515	
CNKSR3	154043	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	154732101	154732101	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:154732101G>A	ENST00000607772.1	-	11	1790	c.1246C>T	c.(1246-1248)Ccc>Tcc	p.P416S	CNKSR3_ENST00000479339.1_Missense_Mutation_p.P336S|CNKSR3_ENST00000433165.2_Missense_Mutation_p.P241S	NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	416	DUF1170.				negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)	cytoplasm (GO:0005737)|membrane (GO:0016020)				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		ATTTTTGTGGGCAGAATGTTG	0.502																																					p.P416S		.											.	CNKSR3-26	0			c.C1246T						.						179.0	170.0	173.0					6																	154732101		2203	4300	6503	SO:0001583	missense	154043	exon11			TTGTGGGCAGAAT	AK055911	CCDS5246.1	6q25.2	2013-01-10	2005-04-11	2005-04-11	ENSG00000153721	ENSG00000153721		"""Sterile alpha motif (SAM) domain containing"""	23034	protein-coding gene	gene with protein product			"""membrane associated guanylate kinase interacting protein-like 1"""	MAGI1			Standard	NM_173515		Approved	FLJ31349		Q6P9H4	OTTHUMG00000015873	ENST00000607772.1:c.1246C>T	6.37:g.154732101G>A	ENSP00000475915:p.Pro416Ser	109	0		126	48	NM_173515	0	0	1	1	0	Q5SGD5|Q96N65	Missense_Mutation	SNP	ENST00000607772.1	37	CCDS5246.1	.	.	.	.	.	.	.	.	.	.	G	13.52	2.262859	0.39995	.	.	ENSG00000153721	ENST00000367209;ENST00000367213;ENST00000433165;ENST00000479339;ENST00000424998	T;T;T	0.42513	1.57;0.97;0.98	5.82	4.94	0.65067	Connector enhancer of kinase suppressor of ras 2 (1);	0.177523	0.49305	D	0.000145	T	0.27384	0.0672	L	0.47716	1.5	0.34900	D	0.746411	B	0.27910	0.193	B	0.30716	0.119	T	0.25745	-1.0123	10	0.72032	D	0.01	.	17.0244	0.86441	0.0:0.1272:0.8728:0.0	.	416	Q6P9H4	CNKR3_HUMAN	S	191;416;241;336;178	ENSP00000356182:P416S;ENSP00000414185:P241S;ENSP00000418975:P336S	ENSP00000356178:P191S	P	-	1	0	CNKSR3	154773793	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.376000	0.73141	1.448000	0.47680	0.655000	0.94253	CCC	.		0.502	CNKSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042792.2	NM_173515	
SYTL3	94120	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	159166688	159166688	+	Missense_Mutation	SNP	T	T	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:159166688T>A	ENST00000297239.9	+	11	1226	c.1032T>A	c.(1030-1032)aaT>aaA	p.N344K	SYTL3_ENST00000360448.3_Missense_Mutation_p.N276K|SYTL3_ENST00000367081.3_Missense_Mutation_p.N70K			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	344	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	calcium-dependent phospholipid binding (GO:0005544)			endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		AAAAGTGCAATCCGTAAGTTG	0.289																																					p.N344K		.											.	SYTL3-90	0			c.T1032A						.						54.0	52.0	53.0					6																	159166688		2202	4300	6502	SO:0001583	missense	94120	exon13			GTGCAATCCGTAA	AK055750	CCDS34563.1, CCDS56458.1	6q25.3	2008-07-04			ENSG00000164674	ENSG00000164674			15587	protein-coding gene	gene with protein product						11773082	Standard	NM_001242384		Approved	SLP3, exophilin-6	uc003qrp.3	Q4VX76	OTTHUMG00000015916	ENST00000297239.9:c.1032T>A	6.37:g.159166688T>A	ENSP00000297239:p.Asn344Lys	44	0		41	15	NM_001242384	0	0	0	0	0	Q496J4|Q496J6|Q5U3B9	Missense_Mutation	SNP	ENST00000297239.9	37	CCDS56458.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.083579	0.76642	.	.	ENSG00000164674	ENST00000360448;ENST00000543689;ENST00000297239;ENST00000367081	T;T;T	0.08370	3.1;3.1;3.1	5.51	-0.737	0.11129	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.195391	0.44483	D	0.000452	T	0.21347	0.0514	M	0.93106	3.38	0.44918	D	0.997933	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.996;0.994;0.997	T	0.16958	-1.0385	10	0.87932	D	0	-25.6732	9.737	0.40395	0.0:0.5802:0.0:0.4198	.	70;344;276	F8W7H4;Q4VX76;Q4VX76-2	.;SYTL3_HUMAN;.	K	276;344;344;70	ENSP00000353631:N276K;ENSP00000297239:N344K;ENSP00000356048:N70K	ENSP00000297239:N344K	N	+	3	2	SYTL3	159086676	0.622000	0.27085	1.000000	0.80357	0.988000	0.76386	-0.401000	0.07232	0.084000	0.17077	0.533000	0.62120	AAT	.		0.289	SYTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042876.1		
SLC22A3	6581	broad.mit.edu;bcgsc.ca	37	6	160819024	160819024	+	Missense_Mutation	SNP	G	G	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:160819024G>C	ENST00000275300.2	+	2	595	c.443G>C	c.(442-444)tGt>tCt	p.C148S	SLC22A3_ENST00000392145.1_Missense_Mutation_p.C148S	NM_021977.3	NP_068812.1	O75751	S22A3_HUMAN	solute carrier family 22 (organic cation transporter), member 3	148					dopamine transport (GO:0015872)|drug transmembrane transport (GO:0006855)|histamine uptake (GO:0051615)|organic cation transport (GO:0015695)|quaternary ammonium group transport (GO:0015697)|regulation of appetite (GO:0032098)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dopamine transmembrane transporter activity (GO:0005329)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|toxin transporter activity (GO:0019534)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)	Adefovir Dipivoxil(DB00718)|Amphetamine(DB00182)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Colchicine(DB01394)|Desipramine(DB01151)|Dopamine(DB00988)|Estradiol(DB00783)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imipramine(DB00458)|Irinotecan(DB00762)|Lamivudine(DB00709)|Melphalan(DB01042)|Metformin(DB00331)|Methamphetamine(DB01577)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Phenoxybenzamine(DB00925)|Prazosin(DB00457)|Procainamide(DB01035)|Progesterone(DB00396)|Testosterone(DB00624)|Vincristine(DB00541)	GACCTTGTCTGTGTCAATGCG	0.458																																					p.C148S		.											.	SLC22A3-517	0			c.G443C						.						249.0	224.0	232.0					6																	160819024		2203	4300	6503	SO:0001583	missense	6581	exon2			TTGTCTGTGTCAA	AF078749	CCDS5277.1	6q25.3	2013-07-18	2013-07-18		ENSG00000146477	ENSG00000146477		"""Solute carriers"""	10967	protein-coding gene	gene with protein product		604842	"""solute carrier family 22 (extraneuronal monoamine transporter), member 3"""			9632645, 9933568	Standard	NM_021977		Approved	OCT3, EMT	uc003qti.4	O75751	OTTHUMG00000015953	ENST00000275300.2:c.443G>C	6.37:g.160819024G>C	ENSP00000275300:p.Cys148Ser	92	0		106	5	NM_021977	0	0	0	0	0	Q5SYN6|Q9UP02	Missense_Mutation	SNP	ENST00000275300.2	37	CCDS5277.1	.	.	.	.	.	.	.	.	.	.	G	18.31	3.594907	0.66219	.	.	ENSG00000146477	ENST00000275300;ENST00000392145	T;T	0.81078	-1.45;-1.45	5.31	5.31	0.75309	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.91161	0.7216	M	0.92555	3.32	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.93048	0.6463	10	0.87932	D	0	.	17.1604	0.86802	0.0:0.0:1.0:0.0	.	148	O75751	S22A3_HUMAN	S	148	ENSP00000275300:C148S;ENSP00000375989:C148S	ENSP00000275300:C148S	C	+	2	0	SLC22A3	160739014	1.000000	0.71417	0.994000	0.49952	0.507000	0.33981	6.725000	0.74752	2.481000	0.83766	0.555000	0.69702	TGT	.		0.458	SLC22A3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042953.1	NM_021977	
LPA	4018	broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	161006174	161006174	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:161006174C>T	ENST00000316300.5	-	26	4237	c.4193G>A	c.(4192-4194)gGc>gAc	p.G1398D	LPA_ENST00000447678.1_Missense_Mutation_p.G1398D			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3906	Kringle 13. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GGAGAGTGTGCCTCGATAACT	0.463																																					p.G1398D		.											.	LPA-74	0			c.G4193A						.						220.0	219.0	219.0					6																	161006174		2191	4296	6487	SO:0001583	missense	4018	exon27			AGTGTGCCTCGAT	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.4193G>A	6.37:g.161006174C>T	ENSP00000321334:p.Gly1398Asp	225	2		311	141	NM_005577	0	0	0	0	0	Q5VTD7|Q9UD88	Missense_Mutation	SNP	ENST00000316300.5	37	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	c	9.993	1.231295	0.22626	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	D;D	0.92149	-2.98;-2.98	2.41	2.41	0.29592	Kringle (4);Kringle-like fold (1);	.	.	.	.	D	0.97210	0.9088	H	0.99811	4.8	0.28737	N	0.902192	D	0.89917	1.0	D	0.97110	1.0	D	0.91090	0.4906	9	0.87932	D	0	.	8.2827	0.31910	0.0:1.0:0.0:0.0	.	3906	P08519	APOA_HUMAN	D	1398	ENSP00000321334:G1398D;ENSP00000395608:G1398D	ENSP00000321334:G1398D	G	-	2	0	LPA	160926164	0.995000	0.38212	0.218000	0.23776	0.010000	0.07245	4.546000	0.60705	1.323000	0.45263	0.436000	0.28706	GGC	.		0.463	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577	
MAP3K4	4216	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	161510389	161510389	+	Silent	SNP	G	G	A	rs186715923		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:161510389G>A	ENST00000392142.4	+	11	3007	c.2859G>A	c.(2857-2859)gcG>gcA	p.A953A	MAP3K4_ENST00000366919.2_Silent_p.A953A|MAP3K4_ENST00000366920.2_Silent_p.A953A|MAP3K4_ENST00000348824.7_Silent_p.A953A	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	953					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		TGCAGTCTGCGCATCTCACAA	0.448													C|||	1	0.000199681	0.0	0.0	5008	,	,		21088	0.001		0.0	False		,,,				2504	0.0				p.A953A		.											.	MAP3K4-548	0			c.G2859A						.						180.0	175.0	177.0					6																	161510389		2203	4300	6503	SO:0001819	synonymous_variant	4216	exon11			GTCTGCGCATCTC	AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.2859G>A	6.37:g.161510389G>A		63	0		89	29	NM_006724	0	0	6	6	0	A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Silent	SNP	ENST00000392142.4	37	CCDS34565.1																																																																																			G|0.999;A|0.000		0.448	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3		
QKI	9444	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	163984721	163984721	+	Missense_Mutation	SNP	G	G	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:163984721G>C	ENST00000361752.3	+	6	1455	c.904G>C	c.(904-906)Gag>Cag	p.E302Q	QKI_ENST00000424802.3_Missense_Mutation_p.E294Q|QKI_ENST00000361195.2_Missense_Mutation_p.E294Q|QKI_ENST00000453779.2_Missense_Mutation_p.E302Q|QKI_ENST00000275262.7_Missense_Mutation_p.E302Q|QKI_ENST00000392127.2_Missense_Mutation_p.E302Q	NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN	QKI, KH domain containing, RNA binding	302					long-chain fatty acid biosynthetic process (GO:0042759)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|muscle cell differentiation (GO:0042692)|myelination (GO:0042552)|positive regulation of gene expression (GO:0010628)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)|spermatid development (GO:0007286)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		ATCAATCCTTGAGTATCCTAT	0.423																																					p.E302Q		.											.	QKI-290	0			c.G904C						.						129.0	129.0	129.0					6																	163984721		2203	4300	6503	SO:0001583	missense	9444	exon6			ATCCTTGAGTATC	AB067798	CCDS5285.1, CCDS5286.1, CCDS5287.1, CCDS43525.1, CCDS75546.1	6q26	2011-09-12	2011-09-12		ENSG00000112531	ENSG00000112531			21100	protein-coding gene	gene with protein product		609590	"""quaking homolog, KH domain RNA binding (mouse)"""			10535969	Standard	NM_006775		Approved	QK3	uc003qui.3	Q96PU8	OTTHUMG00000015977	ENST00000361752.3:c.904G>C	6.37:g.163984721G>C	ENSP00000355094:p.Glu302Gln	95	0		82	39	NM_206853	0	0	45	79	34	Q2I375|Q5MJQ1|Q969L9|Q96EJ3|Q96KA3|Q96PU6|Q96PU7|Q9P0X6|Q9P0X7|Q9P0X8|Q9P0X9|Q9P0Y0|Q9P0Y1	Missense_Mutation	SNP	ENST00000361752.3	37	CCDS5285.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.85|19.85	3.903913|3.903913	0.72754|0.72754	.|.	.|.	ENSG00000112531|ENSG00000112531	ENST00000453779;ENST00000275262;ENST00000392127;ENST00000361752;ENST00000361195;ENST00000424802|ENST00000537883;ENST00000544361	.|.	.|.	.|.	5.74|5.74	5.74|5.74	0.90152|0.90152	.|.	0.107189|.	0.64402|.	D|.	0.000002|.	T|.	0.67325|.	0.2881|.	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	P;P;P;P;P;P|.	0.51537|.	0.824;0.911;0.865;0.946;0.607;0.607|.	B;B;B;P;B;B|.	0.46253|.	0.263;0.376;0.301;0.509;0.187;0.187|.	T|.	0.63084|.	-0.6716|.	9|.	0.54805|.	T|.	0.06|.	-2.7325|-2.7325	19.9189|19.9189	0.97077|0.97077	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	294;302;294;302;302;302|.	Q96PU8-3;Q96PU8;Q96PU8-5;Q96PU8-9;Q96PU8-6;Q96PU8-8|.	.;QKI_HUMAN;.;.;.;.|.	Q|S	302;302;302;302;294;294|198;135	.|.	ENSP00000275262:E302Q|.	E|X	+|+	1|2	0|2	QKI|QKI	163904711|163904711	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.476000|9.476000	0.97823|0.97823	2.707000|2.707000	0.92482|0.92482	0.655000|0.655000	0.94253|0.94253	GAG|TGA	.		0.423	QKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043016.2	NM_006775	
C6orf118	168090	broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	165703533	165703533	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:165703533C>T	ENST00000230301.8	-	7	1164	c.1144G>A	c.(1144-1146)Gat>Aat	p.D382N	C6orf118_ENST00000543069.1_3'UTR|C6orf118_ENST00000494696.2_5'UTR	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	382										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)		CGGTTTTCATCAATTATATGT	0.284																																					p.D382N		.											.	C6orf118-90	0			c.G1144A						.						54.0	53.0	53.0					6																	165703533		2203	4295	6498	SO:0001583	missense	168090	exon7			TTTCATCAATTAT		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.1144G>A	6.37:g.165703533C>T	ENSP00000230301:p.Asp382Asn	28	0		32	4	NM_144980	0	0	0	0	0	Q8TC11	Missense_Mutation	SNP	ENST00000230301.8	37	CCDS5288.1	.	.	.	.	.	.	.	.	.	.	C	16.36	3.100633	0.56183	.	.	ENSG00000112539	ENST00000230301	T	0.12774	2.65	5.36	0.0993	0.14502	.	1.081430	0.07033	N	0.828831	T	0.04318	0.0119	L	0.52573	1.65	0.09310	N	1	B	0.29432	0.244	B	0.28553	0.091	T	0.44221	-0.9342	10	0.52906	T	0.07	-9.1624	4.4004	0.11383	0.0:0.4538:0.1605:0.3857	.	382	Q5T5N4	CF118_HUMAN	N	382	ENSP00000230301:D382N	ENSP00000230301:D382N	D	-	1	0	C6orf118	165623523	0.051000	0.20477	0.000000	0.03702	0.002000	0.02628	0.580000	0.23803	0.013000	0.14918	0.650000	0.86243	GAT	.		0.284	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043026.1	NM_144980	
FGFR1OP	11116	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	167417212	167417212	+	Splice_Site	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:167417212T>C	ENST00000366847.4	+	4	444	c.213T>C	c.(211-213)ggT>ggC	p.G71G	FGFR1OP_ENST00000476078.1_3'UTR|RP11-517H2.6_ENST00000609590.1_RNA|FGFR1OP_ENST00000349556.4_Splice_Site_p.G71G	NM_007045.2	NP_008976.1	O95684	FR1OP_HUMAN	FGFR1 oncogene partner	71	LisH. {ECO:0000255|PROSITE- ProRule:PRU00126}.				G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|mitotic cell cycle (GO:0000278)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein tyrosine kinase activity (GO:0061099)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|protein tyrosine kinase inhibitor activity (GO:0030292)			large_intestine(2)|ovary(1)|stomach(1)	4		Breast(66;1.48e-05)|Ovarian(120;0.0607)		OV - Ovarian serous cystadenocarcinoma(33;1.73e-19)|BRCA - Breast invasive adenocarcinoma(81;5.1e-06)|GBM - Glioblastoma multiforme(31;0.00231)		TCTTTATAGGTCGTTTAGTGG	0.294			T	FGFR1	"""MPD, NHL"""																																p.G71G		.		Dom	yes		6	6q27	11116	FGFR1 oncogene partner (FOP)		L	.	FGFR1OP-683	0			c.T213C						.						112.0	106.0	108.0					6																	167417212		2200	4297	6497	SO:0001630	splice_region_variant	11116	exon4			TATAGGTCGTTTA	Y18046	CCDS5296.1, CCDS5297.1, CCDS75550.1	6q27	2008-02-05			ENSG00000213066	ENSG00000213066			17012	protein-coding gene	gene with protein product		605392				9949182, 10373756	Standard	NM_007045		Approved	FOP	uc003qvj.3	O95684	OTTHUMG00000016011	ENST00000366847.4:c.212-1T>C	6.37:g.167417212T>C		47	0		53	23	NM_007045	0	0	0	0	0	A8K1D1|B2R705|Q49AI0|Q5R3F6|Q96EW1	Silent	SNP	ENST00000366847.4	37	CCDS5296.1																																																																																			.		0.294	FGFR1OP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043099.2	NM_007045	Silent
CCR6	1235	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	167549924	167549924	+	Missense_Mutation	SNP	T	T	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:167549924T>A	ENST00000341935.5	+	3	758	c.206T>A	c.(205-207)aTc>aAc	p.I69N	CCR6_ENST00000349984.4_Missense_Mutation_p.I69N|CCR6_ENST00000400926.2_Missense_Mutation_p.I69N|RP11-517H2.6_ENST00000609590.1_RNA	NM_031409.3	NP_113597.2	P51684	CCR6_HUMAN	chemokine (C-C motif) receptor 6	69					cellular component movement (GO:0006928)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|humoral immune response (GO:0006959)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)|receptor activity (GO:0004872)			endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)		CTGGTGGTGATCACCTTTGCT	0.478																																					p.I69N		.											.	CCR6-227	0			c.T206A						.						175.0	174.0	175.0					6																	167549924		2203	4300	6503	SO:0001583	missense	1235	exon3			TGGTGATCACCTT	U68030	CCDS5298.1	6q27	2012-08-08			ENSG00000112486	ENSG00000112486		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1607	protein-coding gene	gene with protein product		601835		STRL22		8886020	Standard	NM_031409		Approved	CKR-L3, GPR-CY4, CMKBR6, GPR29, DRY-6, DCR2, BN-1, CD196	uc010kkm.3	P51684	OTTHUMG00000016015	ENST00000341935.5:c.206T>A	6.37:g.167549924T>A	ENSP00000343952:p.Ile69Asn	160	0		199	76	NM_004367	0	0	1	1	0	E1P5C6|P78553|Q92846	Missense_Mutation	SNP	ENST00000341935.5	37	CCDS5298.1	.	.	.	.	.	.	.	.	.	.	T	12.03	1.814688	0.32053	.	.	ENSG00000112486	ENST00000400926;ENST00000341935;ENST00000349984	T;T;T	0.39592	1.07;1.07;1.07	4.72	3.55	0.40652	GPCR, rhodopsin-like superfamily (1);	0.608193	0.14610	U	0.309062	T	0.35682	0.0940	M	0.79693	2.465	0.29219	N	0.87404	P	0.40553	0.721	P	0.45474	0.482	T	0.29971	-0.9994	10	0.87932	D	0	.	9.4411	0.38668	0.0:0.0851:0.0:0.9149	.	69	P51684	CCR6_HUMAN	N	69	ENSP00000383715:I69N;ENSP00000343952:I69N;ENSP00000339393:I69N	ENSP00000343952:I69N	I	+	2	0	CCR6	167469914	0.992000	0.36948	0.912000	0.35992	0.025000	0.11179	2.886000	0.48578	0.653000	0.30826	-0.379000	0.06801	ATC	.		0.478	CCR6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043118.1		
CCR6	1235	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	167550007	167550007	+	Missense_Mutation	SNP	C	C	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:167550007C>G	ENST00000341935.5	+	3	841	c.289C>G	c.(289-291)Ctt>Gtt	p.L97V	CCR6_ENST00000349984.4_Missense_Mutation_p.L97V|CCR6_ENST00000400926.2_Missense_Mutation_p.L97V|RP11-517H2.6_ENST00000609590.1_RNA	NM_031409.3	NP_113597.2	P51684	CCR6_HUMAN	chemokine (C-C motif) receptor 6	97					cellular component movement (GO:0006928)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|humoral immune response (GO:0006959)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)|receptor activity (GO:0004872)			endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)		CCTCTTTGTTCTTACTCTCCC	0.458																																					p.L97V		.											.	CCR6-227	0			c.C289G						.						141.0	142.0	142.0					6																	167550007		2203	4300	6503	SO:0001583	missense	1235	exon3			TTTGTTCTTACTC	U68030	CCDS5298.1	6q27	2012-08-08			ENSG00000112486	ENSG00000112486		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1607	protein-coding gene	gene with protein product		601835		STRL22		8886020	Standard	NM_031409		Approved	CKR-L3, GPR-CY4, CMKBR6, GPR29, DRY-6, DCR2, BN-1, CD196	uc010kkm.3	P51684	OTTHUMG00000016015	ENST00000341935.5:c.289C>G	6.37:g.167550007C>G	ENSP00000343952:p.Leu97Val	131	0		141	56	NM_004367	0	0	0	0	0	E1P5C6|P78553|Q92846	Missense_Mutation	SNP	ENST00000341935.5	37	CCDS5298.1	.	.	.	.	.	.	.	.	.	.	C	5.141	0.211638	0.09757	.	.	ENSG00000112486	ENST00000400926;ENST00000341935;ENST00000349984	T;T;T	0.41065	1.01;1.01;1.01	4.87	4.0	0.46444	GPCR, rhodopsin-like superfamily (1);	0.342320	0.23108	U	0.051840	T	0.18002	0.0432	L	0.33093	0.98	0.43279	D	0.995246	B	0.33379	0.41	B	0.37091	0.241	T	0.04413	-1.0953	10	0.39692	T	0.17	.	8.7598	0.34667	0.0:0.8271:0.0:0.1729	.	97	P51684	CCR6_HUMAN	V	97	ENSP00000383715:L97V;ENSP00000343952:L97V;ENSP00000339393:L97V	ENSP00000343952:L97V	L	+	1	0	CCR6	167469997	1.000000	0.71417	0.726000	0.30738	0.012000	0.07955	1.568000	0.36418	1.032000	0.39892	-0.258000	0.10820	CTT	.		0.458	CCR6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043118.1		
THBS2	7058	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	6	169622343	169622343	+	Silent	SNP	C	C	T	rs149118318		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:169622343C>T	ENST00000366787.3	-	20	3471	c.3222G>A	c.(3220-3222)acG>acA	p.T1074T	XXyac-YX65C7_A.2_ENST00000444188.1_RNA|THBS2_ENST00000488355.1_5'UTR	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	1074	TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.				cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		GGTGCTCGCCCGTCCCCGTGG	0.667																																					p.T1074T	Esophageal Squamous(91;219 1934 18562 44706)	.											.	THBS2-95	0			c.G3222A						.	C		1,4405	2.1+/-5.4	0,1,2202	55.0	52.0	53.0		3222	-8.4	0.1	6	dbSNP_134	53	0,8600		0,0,4300	no	coding-synonymous	THBS2	NM_003247.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		1074/1173	169622343	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7058	exon20			CTCGCCCGTCCCC		CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.3222G>A	6.37:g.169622343C>T		77	0		107	45	NM_003247	0	0	2	2	0	A6H8N1|A7E232|Q5RI52	Silent	SNP	ENST00000366787.3	37	CCDS34574.1																																																																																			C|1.000;T|0.000		0.667	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247	
THBS2	7058	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	169648601	169648601	+	Missense_Mutation	SNP	C	C	T	rs144458205		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:169648601C>T	ENST00000366787.3	-	4	769	c.520G>A	c.(520-522)Gct>Act	p.A174T		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	174	Heparin-binding. {ECO:0000255}.|Laminin G-like.				cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		TCGTCCAGAGCGAAGCTGTCT	0.617																																					p.A174T	Esophageal Squamous(91;219 1934 18562 44706)	.											.	THBS2-95	0			c.G520A						.						75.0	70.0	71.0					6																	169648601		2203	4300	6503	SO:0001583	missense	7058	exon4			CCAGAGCGAAGCT		CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.520G>A	6.37:g.169648601C>T	ENSP00000355751:p.Ala174Thr	145	0		182	65	NM_003247	0	0	0	0	0	A6H8N1|A7E232|Q5RI52	Missense_Mutation	SNP	ENST00000366787.3	37	CCDS34574.1	.	.	.	.	.	.	.	.	.	.	C	5.862	0.343283	0.11069	.	.	ENSG00000186340	ENST00000366787	T	0.02015	4.5	4.5	-8.99	0.00751	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G, thrombospondin-type, N-terminal (1);	0.629214	0.12838	N	0.435028	T	0.00178	0.0005	N	0.00538	-1.39	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.40997	-0.9533	10	0.16420	T	0.52	-9.5336	4.3571	0.11183	0.1074:0.4411:0.2192:0.2322	.	174	P35442	TSP2_HUMAN	T	174	ENSP00000355751:A174T	ENSP00000355751:A174T	A	-	1	0	THBS2	169390526	0.963000	0.33076	0.013000	0.15412	0.357000	0.29423	0.591000	0.23969	-1.956000	0.01022	-1.008000	0.02478	GCT	C|1.000;A|0.000		0.617	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247	
PSMB1	5689	broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	170846402	170846402	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:170846402G>A	ENST00000262193.6	-	5	558	c.460C>T	c.(460-462)Cca>Tca	p.P154S	PSMB1_ENST00000462957.1_5'UTR	NM_002793.3	NP_002784.1	P20618	PSB1_HUMAN	proteasome (prosome, macropain) subunit, beta type, 1	154					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	threonine-type endopeptidase activity (GO:0004298)			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	5		Breast(66;5.08e-05)|Ovarian(120;0.0563)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;7.5e-23)|BRCA - Breast invasive adenocarcinoma(81;4.88e-06)|GBM - Glioblastoma multiforme(31;0.00643)	Bortezomib(DB00188)|Carfilzomib(DB08889)	GACCCTACTGGATCAAAGCTG	0.453																																					p.P154S		.											.	PSMB1-91	0			c.C460T						.						81.0	69.0	73.0					6																	170846402		2203	4300	6503	SO:0001583	missense	5689	exon5			CTACTGGATCAAA	D00761	CCDS34577.1	6q27	2008-02-05			ENSG00000008018	ENSG00000008018		"""Proteasome (prosome, macropain) subunits"""	9537	protein-coding gene	gene with protein product		602017				2025653	Standard	NM_002793		Approved	PMSB1, HC5	uc011ehe.2	P20618	OTTHUMG00000016087	ENST00000262193.6:c.460C>T	6.37:g.170846402G>A	ENSP00000262193:p.Pro154Ser	86	1		111	46	NM_002793	0	1	213	359	145	B5BU76|Q9BWA8	Missense_Mutation	SNP	ENST00000262193.6	37	CCDS34577.1	.	.	.	.	.	.	.	.	.	.	g	26.7	4.765658	0.90020	.	.	ENSG00000008018	ENST00000262193;ENST00000392093	T	0.28255	1.62	4.88	4.88	0.63580	.	0.048334	0.85682	D	0.000000	T	0.50854	0.1640	M	0.75615	2.305	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.56619	-0.7949	10	0.72032	D	0.01	-6.7389	18.3975	0.90504	0.0:0.0:1.0:0.0	.	154	P20618	PSB1_HUMAN	S	154;159	ENSP00000262193:P154S	ENSP00000262193:P154S	P	-	1	0	PSMB1	170688327	1.000000	0.71417	0.993000	0.49108	0.972000	0.66771	8.839000	0.92120	2.412000	0.81896	0.455000	0.32223	CCA	.		0.453	PSMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043278.2	NM_002793	
PSMB1	5689	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	170862286	170862286	+	Missense_Mutation	SNP	C	C	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:170862286C>A	ENST00000262193.6	-	1	143	c.45G>T	c.(43-45)ttG>ttT	p.L15F	TBP_ENST00000540980.1_5'Flank|TBP_ENST00000392092.2_5'Flank|PSMB1_ENST00000462957.1_5'Flank|TBP_ENST00000230354.6_5'Flank	NM_002793.3	NP_002784.1	P20618	PSB1_HUMAN	proteasome (prosome, macropain) subunit, beta type, 1	15					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	threonine-type endopeptidase activity (GO:0004298)			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	5		Breast(66;5.08e-05)|Ovarian(120;0.0563)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;7.5e-23)|BRCA - Breast invasive adenocarcinoma(81;4.88e-06)|GBM - Glioblastoma multiforme(31;0.00643)	Bortezomib(DB00188)|Carfilzomib(DB08889)	GTTCCATCCCCAAGTCTCTGC	0.592																																					p.L15F		.											.	PSMB1-91	0			c.G45T						.						43.0	39.0	40.0					6																	170862286		2203	4299	6502	SO:0001583	missense	5689	exon1			CATCCCCAAGTCT	D00761	CCDS34577.1	6q27	2008-02-05			ENSG00000008018	ENSG00000008018		"""Proteasome (prosome, macropain) subunits"""	9537	protein-coding gene	gene with protein product		602017				2025653	Standard	NM_002793		Approved	PMSB1, HC5	uc011ehe.2	P20618	OTTHUMG00000016087	ENST00000262193.6:c.45G>T	6.37:g.170862286C>A	ENSP00000262193:p.Leu15Phe	63	0		59	25	NM_002793	0	0	1	1	0	B5BU76|Q9BWA8	Missense_Mutation	SNP	ENST00000262193.6	37	CCDS34577.1	.	.	.	.	.	.	.	.	.	.	C	0.535	-0.856110	0.02630	.	.	ENSG00000008018	ENST00000262193;ENST00000392093	T	0.22336	1.96	4.37	3.49	0.39957	.	0.909437	0.09237	N	0.829788	T	0.03695	0.0105	N	0.14661	0.345	0.09310	N	0.999997	B	0.26876	0.162	B	0.27887	0.084	T	0.43766	-0.9371	10	0.13470	T	0.59	-0.0798	8.5655	0.33536	0.0:0.7583:0.1544:0.0873	.	15	P20618	PSB1_HUMAN	F	15;20	ENSP00000262193:L15F	ENSP00000262193:L15F	L	-	3	2	PSMB1	170704211	0.368000	0.25031	0.086000	0.20670	0.349000	0.29174	2.543000	0.45752	1.041000	0.40125	0.563000	0.77884	TTG	.		0.592	PSMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043278.2	NM_002793	
GPR146	115330	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	7	1097616	1097616	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:1097616G>A	ENST00000397095.1	+	2	688	c.465G>A	c.(463-465)gcG>gcA	p.A155A	C7orf50_ENST00000397100.2_Intron|C7orf50_ENST00000397098.3_Intron|C7orf50_ENST00000488073.1_Intron|GPR146_ENST00000297468.3_Silent_p.A155A|RP11-449P15.1_ENST00000549241.1_RNA|C7orf50_ENST00000357429.6_Intron			Q96CH1	GP146_HUMAN	G protein-coupled receptor 146	155						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|ovary(1)|skin(1)	8		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		GGGGTGGCGCGCTGCTGACCA	0.637																																					p.A155A		.											.	GPR146-91	0			c.G465A						.						87.0	77.0	80.0					7																	1097616		2203	4300	6503	SO:0001819	synonymous_variant	115330	exon1			TGGCGCGCTGCTG	BC014241	CCDS5321.1	7p22.3	2012-08-21			ENSG00000164849	ENSG00000164849		"""GPCR / Class A : Orphans"""	21718	protein-coding gene	gene with protein product							Standard	NM_138445		Approved	PGR8	uc003sjy.1	Q96CH1	OTTHUMG00000023934	ENST00000397095.1:c.465G>A	7.37:g.1097616G>A		59	0		119	57	NM_138445	0	0	2	2	0	Q86SP5	Silent	SNP	ENST00000397095.1	37	CCDS5321.1																																																																																			.		0.637	GPR146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206855.1	NM_138445	
ELFN1	392617	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	1784587	1784587	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:1784587C>T	ENST00000424383.2	+	3	842	c.355C>T	c.(355-357)Cgg>Tgg	p.R119W	ELFN1_ENST00000541472.1_Missense_Mutation_p.R119W|AC074389.9_ENST00000453348.1_lincRNA|ELFN1_ENST00000561626.1_Missense_Mutation_p.R119W			P0C7U0	ELFN1_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 1	119					negative regulation of phosphatase activity (GO:0010923)|synapse organization (GO:0050808)	dendrite (GO:0030425)|excitatory synapse (GO:0060076)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)			endometrium(1)	1						GGGCTACAACCGGCTGCGCAA	0.627																																					p.R119W		.											.	.	0			c.C355T						.						62.0	56.0	58.0					7																	1784587		692	1591	2283	SO:0001583	missense	392617	exon2			TACAACCGGCTGC		CCDS59046.1	7p22.3	2013-02-11	2011-10-27	2011-10-27	ENSG00000225968	ENSG00000225968		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"""	33154	protein-coding gene	gene with protein product		614964	"""extracellular leucine-rich repeat and fibronectin type III containing 1"", ""extracellular leucine-rich repeat and fibronectin type III domain containing 1"", ""protein phosphatase 1, regulatory subunit 28"""	PPP1R28		17868438	Standard	NM_001128636		Approved		uc010ksg.2	P0C7U0	OTTHUMG00000151495	ENST00000424383.2:c.355C>T	7.37:g.1784587C>T	ENSP00000456548:p.Arg119Trp	125	0		146	59	NM_001128636	0	0	0	0	0	H3BS57	Missense_Mutation	SNP	ENST00000424383.2	37	CCDS59046.1																																																																																			.		0.627	ELFN1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322893.2	NM_001128636	
SDK1	221935	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	4285348	4285348	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:4285348G>A	ENST00000404826.2	+	44	6431	c.6292G>A	c.(6292-6294)Gac>Aac	p.D2098N	SDK1_ENST00000389531.3_Missense_Mutation_p.D2078N|SDK1_ENST00000466611.1_3'UTR	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	2098					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GCACTACTCAGACGAGGACAT	0.612																																					p.D2098N		.											.	SDK1-138	0			c.G6292A						.						74.0	66.0	68.0					7																	4285348		2203	4300	6503	SO:0001583	missense	221935	exon44			TACTCAGACGAGG	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.6292G>A	7.37:g.4285348G>A	ENSP00000385899:p.Asp2098Asn	102	0		155	54	NM_152744	0	0	2	2	0	Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	G	35	5.528171	0.96446	.	.	ENSG00000146555	ENST00000404826;ENST00000446104;ENST00000389531	T;T	0.69435	-0.39;-0.4	5.3	5.3	0.74995	.	0.000000	0.64402	D	0.000001	D	0.83353	0.5236	M	0.83012	2.62	0.58432	D	0.99999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.999;0.994;0.998	D	0.85962	0.1471	10	0.87932	D	0	.	17.1277	0.86718	0.0:0.0:1.0:0.0	.	2078;158;585;2098	F8W6X9;Q7Z5N4-2;F2Z3E9;Q7Z5N4	.;.;.;SDK1_HUMAN	N	2098;346;2078	ENSP00000385899:D2098N;ENSP00000374182:D2078N	ENSP00000374182:D2078N	D	+	1	0	SDK1	4251874	1.000000	0.71417	0.909000	0.35828	0.994000	0.84299	9.197000	0.94985	2.462000	0.83206	0.655000	0.94253	GAC	.		0.612	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744	
SLC29A4	222962	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	5330852	5330852	+	Missense_Mutation	SNP	C	C	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:5330852C>A	ENST00000396872.3	+	4	560	c.399C>A	c.(397-399)caC>caA	p.H133Q	SLC29A4_ENST00000297195.4_Missense_Mutation_p.H133Q|SLC29A4_ENST00000406453.3_Missense_Mutation_p.H133Q			Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	133					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)	Metformin(DB00331)	TGACCCTGCACACCAGGATCA	0.627																																					p.H133Q		.											.	SLC29A4-515	0			c.C399A						.						70.0	59.0	63.0					7																	5330852		2203	4300	6503	SO:0001583	missense	222962	exon4			CCTGCACACCAGG	AK075422	CCDS5340.1, CCDS75561.1	7p22.2	2013-07-17	2013-07-17		ENSG00000164638	ENSG00000164638		"""Solute carriers"""	23097	protein-coding gene	gene with protein product		609149	"""solute carrier family 29 (nucleoside transporters), member 4"""			12838422	Standard	NM_153247		Approved	FLJ34923, ENT4	uc003soc.3	Q7RTT9	OTTHUMG00000023797	ENST00000396872.3:c.399C>A	7.37:g.5330852C>A	ENSP00000380081:p.His133Gln	83	0		96	44	NM_153247	0	0	0	2	2	Q6PJ08|Q86WY8|Q8NAR3|Q8NBM2	Missense_Mutation	SNP	ENST00000396872.3	37	CCDS5340.1	.	.	.	.	.	.	.	.	.	.	.	11.83	1.756608	0.31137	.	.	ENSG00000164638	ENST00000434816;ENST00000396872;ENST00000444741;ENST00000297195;ENST00000406453	T;T;T;T;T	0.80480	1.48;-1.38;1.48;-1.38;1.48	4.25	4.25	0.50352	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.85427	0.5694	L	0.54323	1.7	0.50813	D	0.999896	D;B	0.89917	1.0;0.021	D;B	0.83275	0.996;0.014	T	0.82080	-0.0634	10	0.15952	T	0.53	-12.4037	14.4336	0.67266	0.0:1.0:0.0:0.0	.	133;133	Q7RTT9-2;Q7RTT9	.;S29A4_HUMAN	Q	133	ENSP00000406803:H133Q;ENSP00000380081:H133Q;ENSP00000413271:H133Q;ENSP00000297195:H133Q;ENSP00000385845:H133Q	ENSP00000297195:H133Q	H	+	3	2	SLC29A4	5297378	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	3.380000	0.52448	1.926000	0.55796	0.561000	0.74099	CAC	.		0.627	SLC29A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060118.6	NM_153247	
CCZ1B	221960	broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	6854405	6854405	+	Missense_Mutation	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:6854405A>G	ENST00000316731.8	-	8	1342	c.770T>C	c.(769-771)aTc>aCc	p.I257T	CCZ1B_ENST00000538180.1_Missense_Mutation_p.I114T	NM_198097.3	NP_932765.1	P86790	CCZ1B_HUMAN	CCZ1 vacuolar protein trafficking and biogenesis associated homolog B (S. cerevisiae)	257						lysosome (GO:0005764)|membrane (GO:0016020)											CTCAGGTTCGATGTGCCTTGG	0.473																																					p.I257T		.											.	.	0			c.T770C						.						225.0	199.0	208.0					7																	6854405		2200	4300	6500	SO:0001583	missense	221960	exon8			GGTTCGATGTGCC	BC010130	CCDS5354.1	7p22.2	2011-11-24	2011-11-24	2011-11-24	ENSG00000146574	ENSG00000146574			21717	protein-coding gene	gene with protein product	"""similar to CGI-43 protein"""		"""chromosome 7 open reading frame 28B"""	C7orf28B		12477932	Standard	NM_198097		Approved	DKFZP586I1023, H_NH0577018.2, MGC19819	uc003sqx.2	P86790	OTTHUMG00000152441	ENST00000316731.8:c.770T>C	7.37:g.6854405A>G	ENSP00000314544:p.Ile257Thr	202	3		203	85	NM_198097	0	0	0	1	1	A2RU45|O95766|Q9UG65|Q9Y359	Missense_Mutation	SNP	ENST00000316731.8	37	CCDS5354.1	.	.	.	.	.	.	.	.	.	.	A	0.509	-0.867281	0.02590	.	.	ENSG00000146574	ENST00000316731;ENST00000538180	.	.	.	2.52	2.52	0.30459	.	0.434143	0.25478	N	0.030395	T	0.17365	0.0417	.	.	.	0.26976	N	0.965472	.	.	.	.	.	.	T	0.14200	-1.0481	6	0.13108	T	0.6	-7.6454	4.3315	0.11066	0.8327:0.0:0.1673:0.0	.	.	.	.	T	257;114	.	ENSP00000314544:I257T	I	-	2	0	C7orf28B	6820930	1.000000	0.71417	0.969000	0.41365	0.108000	0.19459	4.730000	0.62015	1.152000	0.42452	0.156000	0.16432	ATC	.		0.473	CCZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246858.1	NM_198097	
GLCCI1	113263	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	8124630	8124630	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:8124630G>A	ENST00000223145.5	+	7	1838	c.1281G>A	c.(1279-1281)aaG>aaA	p.K427K		NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	427						cytoplasm (GO:0005737)				endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		AGCGAGTGAAGGTCTTTGAGG	0.453																																					p.K427K		.											.	GLCCI1-90	0			c.G1281A						.						143.0	143.0	143.0					7																	8124630		2203	4300	6503	SO:0001819	synonymous_variant	113263	exon7			AGTGAAGGTCTTT	BC050291	CCDS34601.1	7p22.2	2008-08-18			ENSG00000106415	ENSG00000106415			18713	protein-coding gene	gene with protein product		614283					Standard	NM_138426		Approved	GIG18, FAM117C, TSSN1	uc003srk.4	Q86VQ1	OTTHUMG00000151984	ENST00000223145.5:c.1281G>A	7.37:g.8124630G>A		120	0		132	49	NM_138426	0	0	3	4	1	A4D103|Q96FD0	Silent	SNP	ENST00000223145.5	37	CCDS34601.1																																																																																			.		0.453	GLCCI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324672.1	NM_138426	
ANKMY2	57037	ucsc.edu;bcgsc.ca	37	7	16649291	16649291	+	Silent	SNP	G	G	A	rs149044205	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:16649291G>A	ENST00000306999.2	-	7	1089	c.846C>T	c.(844-846)ctC>ctT	p.L282L		NM_020319.2	NP_064715.1	Q8IV38	ANKY2_HUMAN	ankyrin repeat and MYND domain containing 2	282						cilium (GO:0005929)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	23	Lung NSC(10;0.103)|all_lung(11;0.204)			UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		CCAGCTGCTGGAGGAGTGTAG	0.403																																					p.L282L		.											.	ANKMY2-514	0			c.C846T						.						108.0	108.0	108.0					7																	16649291		2203	4300	6503	SO:0001819	synonymous_variant	57037	exon7			CTGCTGGAGGAGT	AK001740	CCDS5361.1	7p21	2013-01-10			ENSG00000106524	ENSG00000106524		"""Zinc fingers, MYND-type"", ""Ankyrin repeat domain containing"""	25370	protein-coding gene	gene with protein product						12477932	Standard	NM_020319		Approved	DKFZP564O043, ZMYND20	uc003sti.3	Q8IV38	OTTHUMG00000090806	ENST00000306999.2:c.846C>T	7.37:g.16649291G>A		90	1		87	30	NM_020319	0	0	8	27	19	A4D124|Q659G1|Q96BL3	Silent	SNP	ENST00000306999.2	37	CCDS5361.1																																																																																			G|0.998;C|0.002		0.403	ANKMY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207600.2	NM_020319	
HDAC9	9734	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	18625005	18625005	+	Missense_Mutation	SNP	C	C	T	rs369708624		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:18625005C>T	ENST00000432645.2	+	2	124	c.124C>T	c.(124-126)Cgt>Tgt	p.R42C	HDAC9_ENST00000405010.3_Missense_Mutation_p.R42C|HDAC9_ENST00000406451.4_Missense_Mutation_p.R42C|HDAC9_ENST00000456174.2_Missense_Mutation_p.R11C|HDAC9_ENST00000406072.1_Missense_Mutation_p.R70C|HDAC9_ENST00000524023.1_Missense_Mutation_p.R11C|HDAC9_ENST00000401921.1_Missense_Mutation_p.R42C|HDAC9_ENST00000441542.2_Missense_Mutation_p.R42C|HDAC9_ENST00000417496.2_Missense_Mutation_p.R84C|HDAC9_ENST00000476135.1_3'UTR|HDAC9_ENST00000428307.2_Missense_Mutation_p.R42C	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	42					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CCCTGTTGTCCGTGAGAAGCA	0.493																																					p.R84C		.											.	HDAC9-227	0			c.C250T						.	C	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,3940		0,0,1970	96.0	96.0	96.0		250,124,124,31,31,124,124,124,124	5.0	1.0	7		96	1,8353		0,1,4176	no	missense,missense,missense,missense,missense,missense,missense,missense,missense	HDAC9	NM_001204144.1,NM_001204145.1,NM_001204146.1,NM_001204147.1,NM_001204148.1,NM_014707.1,NM_058176.2,NM_178423.1,NM_178425.2	180,180,180,180,180,180,180,180,180	0,1,6146	TT,TC,CC		0.012,0.0,0.0081	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	84/589,42/547,42/550,11/514,11/563,42/591,42/1012,42/1067,42/1070	18625005	1,12293	1970	4177	6147	SO:0001583	missense	9734	exon5			GTTGTCCGTGAGA	AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.124C>T	7.37:g.18625005C>T	ENSP00000410337:p.Arg42Cys	115	0		159	74	NM_001204144	0	0	1	1	0	A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Missense_Mutation	SNP	ENST00000432645.2	37	CCDS47555.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.405590	0.83230	0.0	1.2E-4	ENSG00000048052	ENST00000417496;ENST00000262069;ENST00000413509;ENST00000413380;ENST00000430454;ENST00000405010;ENST00000406451;ENST00000428307;ENST00000406072;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000441986;ENST00000456174;ENST00000524023;ENST00000341009	T;T;T;T;T;T;T;T;T;T;T;T;T	0.60920	0.68;0.72;0.74;0.73;0.19;0.73;0.7;0.15;0.2;0.17;0.71;0.74;0.76	5.93	5.0	0.66597	Histone deacetylase, glutamine rich N-terminal domain (1);	0.324775	0.26840	N	0.022229	T	0.68247	0.2980	L	0.42245	1.32	0.58432	D	0.999997	D;D;D;P;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.833;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;B;D;D;D;D;D;D;D;D;D	0.87578	0.928;0.928;0.953;0.188;0.973;0.928;0.953;0.953;0.987;0.998;0.953;0.917;0.973	T	0.68372	-0.5426	10	0.59425	D	0.04	-10.7869	13.7519	0.62912	0.2689:0.7311:0.0:0.0	.	11;11;42;70;84;42;42;42;42;11;42;42;61	E7EX34;C9JS87;Q9UKV0-4;B5MCF1;B7Z917;Q68D71;Q9UKV0-6;Q9UKV0-7;Q9UKV0;B7Z928;Q9UKV0-5;Q9UKV0-3;Q8N879	.;.;.;.;.;.;.;.;HDAC9_HUMAN;.;.;.;.	C	84;87;42;42;11;42;42;42;70;42;42;42;11;11;11;42	ENSP00000401669:R84C;ENSP00000412497:R42C;ENSP00000392564:R42C;ENSP00000384382:R42C;ENSP00000384657:R42C;ENSP00000395655:R42C;ENSP00000384017:R70C;ENSP00000383912:R42C;ENSP00000410337:R42C;ENSP00000408617:R42C;ENSP00000404763:R11C;ENSP00000388568:R11C;ENSP00000430036:R11C	ENSP00000262069:R87C	R	+	1	0	HDAC9	18591530	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.530000	0.53539	2.805000	0.96524	0.655000	0.94253	CGT	.		0.493	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1		
TWISTNB	221830	hgsc.bcm.edu;bcgsc.ca	37	7	19739713	19739713	+	Frame_Shift_Del	DEL	C	C	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:19739713delC	ENST00000222567.5	-	3	657	c.587delG	c.(586-588)ggafs	p.G196fs		NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor	196					transcription from RNA polymerase I promoter (GO:0006360)	DNA-directed RNA polymerase I complex (GO:0005736)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						ATTTAGTTTTCCCCGAATGCA	0.318																																					p.G196fs		.											.	TWISTNB-91	0			c.587delG						.						91.0	90.0	91.0					7																	19739713		2203	4300	6503	SO:0001589	frameshift_variant	221830	exon3			AGTTTTCCCCGAA	AK090846	CCDS34606.1	7p21.1	2010-08-05			ENSG00000105849	ENSG00000105849			18027	protein-coding gene	gene with protein product		608312				12438708	Standard	NM_001002926		Approved		uc003sup.1	Q3B726	OTTHUMG00000152497	ENST00000222567.5:c.587delG	7.37:g.19739713delC	ENSP00000222567:p.Gly196fs	82	1		68	26	NM_001002926	0	0	0	0	0	A0PJ45|B7Z724	Frame_Shift_Del	DEL	ENST00000222567.5	37	CCDS34606.1																																																																																			.		0.318	TWISTNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326463.1		
MACC1	346389	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	7	20180768	20180768	+	Missense_Mutation	SNP	G	G	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:20180768G>T	ENST00000400331.5	-	7	2668	c.2360C>A	c.(2359-2361)cCt>cAt	p.P787H	MACC1_ENST00000332878.4_Missense_Mutation_p.P787H|MACC1_ENST00000589011.1_Missense_Mutation_p.P787H|MACC1-AS1_ENST00000439285.1_RNA	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	787					positive regulation of cell division (GO:0051781)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						ATCATAGGCAGGTTTCCACAT	0.353																																					p.P787H		.											.	MACC1-93	0			c.C2360A						.						56.0	58.0	58.0					7																	20180768		2202	4298	6500	SO:0001583	missense	346389	exon7			TAGGCAGGTTTCC		CCDS5369.1	7p15.3	2008-10-14			ENSG00000183742	ENSG00000183742			30215	protein-coding gene	gene with protein product		612646					Standard	NM_182762		Approved	7A5, SH3BP4L	uc003sus.4	Q6ZN28	OTTHUMG00000128415	ENST00000400331.5:c.2360C>A	7.37:g.20180768G>T	ENSP00000383185:p.Pro787His	13	0		21	7	NM_182762	0	0	0	0	0	A8MUS5|B2RNR9|Q6ZQN8|Q7Z5A5	Missense_Mutation	SNP	ENST00000400331.5	37	CCDS5369.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.763839	0.89932	.	.	ENSG00000183742	ENST00000400331;ENST00000332878	T;T	0.45276	0.9;0.9	5.74	5.74	0.90152	.	0.049190	0.85682	D	0.000000	T	0.67287	0.2877	M	0.82056	2.57	0.80722	D	1	D	0.89917	1.0	D	0.63957	0.92	T	0.70659	-0.4811	10	0.87932	D	0	-18.4109	19.9351	0.97137	0.0:0.0:1.0:0.0	.	787	Q6ZN28	MACC1_HUMAN	H	787	ENSP00000383185:P787H;ENSP00000328410:P787H	ENSP00000328410:P787H	P	-	2	0	MACC1	20147293	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	9.869000	0.99810	2.703000	0.92315	0.655000	0.94253	CCT	.		0.353	MACC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250202.5	NM_182762	
SP4	6671	ucsc.edu;bcgsc.ca;mdanderson.org	37	7	21516828	21516828	+	Nonsense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:21516828C>T	ENST00000222584.3	+	4	2028	c.1810C>T	c.(1810-1812)Cag>Tag	p.Q604*		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	604					regulation of heart contraction (GO:0008016)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						AGTGCATTTGCAGCAAGGCCA	0.488																																					p.Q604X		.											.	SP4-95	0			c.C1810T						.						120.0	100.0	107.0					7																	21516828		2203	4300	6503	SO:0001587	stop_gained	6671	exon4			CATTTGCAGCAAG		CCDS5373.1	7p15	2013-01-08			ENSG00000105866	ENSG00000105866		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11209	protein-coding gene	gene with protein product		600540				1454515	Standard	XM_005249828		Approved	SPR-1, HF1B, MGC130008, MGC130009	uc003sva.3	Q02446	OTTHUMG00000094801	ENST00000222584.3:c.1810C>T	7.37:g.21516828C>T	ENSP00000222584:p.Gln604*	164	3		228	106	NM_003112	0	0	1	1	0	O60402|Q32M52	Nonsense_Mutation	SNP	ENST00000222584.3	37	CCDS5373.1	.	.	.	.	.	.	.	.	.	.	C	39	7.425860	0.98275	.	.	ENSG00000105866	ENST00000222584;ENST00000432066	.	.	.	6.07	6.07	0.98685	.	0.000000	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	.	.	.	X	604;47	.	ENSP00000222584:Q604X	Q	+	1	0	SP4	21483353	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.604000	0.54081	2.885000	0.99019	0.655000	0.94253	CAG	.		0.488	SP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211617.2	NM_003112	
DNAH11	8701	broad.mit.edu	37	7	21932249	21932249	+	Silent	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:21932249C>T	ENST00000409508.3	+	77	12745	c.12714C>T	c.(12712-12714)ctC>ctT	p.L4238L	DNAH11_ENST00000328843.6_Silent_p.L4245L	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	4245					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GGAATGCACTCAGTGGTGATG	0.438									Kartagener syndrome																												.		.											.	DNAH11-146	0			.						.						52.0	56.0	55.0					7																	21932249		1904	4125	6029	SO:0001819	synonymous_variant	8701	.	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	TGCACTCAGTGGT	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.12714C>T	7.37:g.21932249C>T		50	0		47	3	.	0	0	112	113	1	Q9UJ82	Silent	SNP	ENST00000409508.3	37																																																																																				.		0.438	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777	
DFNA5	1687	broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	24738664	24738664	+	Nonsense_Mutation	SNP	A	A	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:24738664A>C	ENST00000342947.3	-	10	1897	c.1472T>G	c.(1471-1473)tTa>tGa	p.L491*	DFNA5_ENST00000545231.1_Nonsense_Mutation_p.L327*|DFNA5_ENST00000419307.1_Nonsense_Mutation_p.L327*|DFNA5_ENST00000409775.3_Nonsense_Mutation_p.L491*|DFNA5_ENST00000409970.1_Nonsense_Mutation_p.L327*	NM_004403.2	NP_004394.1	O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	491					apoptotic process (GO:0006915)|inner ear receptor cell differentiation (GO:0060113)|negative regulation of cell proliferation (GO:0008285)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						TTCTCTGCCTAAAGCACAGAG	0.408																																					p.L491X	GBM(78;184 1250 20134 20900 23600)	.											.	DFNA5-91	0			c.T1472G						.						81.0	77.0	78.0					7																	24738664		2203	4300	6503	SO:0001587	stop_gained	1687	exon10			CTGCCTAAAGCAC	AF007790	CCDS5389.1, CCDS47563.1	7p15	2011-07-01			ENSG00000105928	ENSG00000105928			2810	protein-coding gene	gene with protein product		608798				8589696, 9450185	Standard	NM_004403		Approved	ICERE-1	uc010kus.1	O60443	OTTHUMG00000023237	ENST00000342947.3:c.1472T>G	7.37:g.24738664A>C	ENSP00000339587:p.Leu491*	168	1		226	90	NM_001127453	0	0	92	95	3	A4D156|B2RAX9|B3KT05|O14590|Q08AQ8|Q9UBV3	Nonsense_Mutation	SNP	ENST00000342947.3	37	CCDS5389.1	.	.	.	.	.	.	.	.	.	.	A	46	12.313034	0.99656	.	.	ENSG00000105928	ENST00000342947;ENST00000419307;ENST00000545231;ENST00000409970;ENST00000409775	.	.	.	5.44	5.44	0.79542	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.44587	D	0.997556	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.8065	13.7343	0.62809	1.0:0.0:0.0:0.0	.	.	.	.	X	491;327;327;327;491	.	ENSP00000339587:L491X	L	-	2	0	DFNA5	24705189	0.965000	0.33210	0.004000	0.12327	0.931000	0.56810	5.293000	0.65680	2.068000	0.61886	0.528000	0.53228	TTA	.		0.408	DFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214060.2	NM_004403	
ADCYAP1R1	117	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	31117638	31117638	+	Missense_Mutation	SNP	T	T	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:31117638T>G	ENST00000304166.4	+	4	479	c.190T>G	c.(190-192)Tgg>Ggg	p.W64G	ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.W64G|ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.W64G|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.W64G	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	64					activation of adenylate cyclase activity (GO:0007190)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)|vasoactive intestinal polypeptide receptor activity (GO:0004999)			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						CATCACGTGTTGGAAGCCCGC	0.577																																					p.W64G	Ovarian(44;225 1186 2158 11092)	.											.	ADCYAP1R1-91	0			c.T190G						.						183.0	134.0	151.0					7																	31117638		2203	4300	6503	SO:0001583	missense	117	exon4			ACGTGTTGGAAGC		CCDS5433.1, CCDS56480.1, CCDS56481.1	7p14.3	2012-09-20			ENSG00000078549	ENSG00000078549		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	242	protein-coding gene	gene with protein product	"""PACAP receptor 1"""	102981				7902709	Standard	NM_001199635		Approved	PAC1, PACAPR, PAC1R	uc003tcg.3	P41586	OTTHUMG00000023884	ENST00000304166.4:c.190T>G	7.37:g.31117638T>G	ENSP00000306620:p.Trp64Gly	266	1		329	124	NM_001118	0	0	2	2	0	A8K1Y1|B7ZLA7|B8ZZK3|Q17S10	Missense_Mutation	SNP	ENST00000304166.4	37	CCDS5433.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.300332	0.81136	.	.	ENSG00000078549	ENST00000304166;ENST00000409363;ENST00000431811;ENST00000396211;ENST00000409489	D;D;D;D;D	0.96992	-4.2;-4.2;-4.2;-4.2;-4.2	5.2	5.2	0.72013	GPCR, family 2, secretin-like, conserved site (1);GPCR, family 2, extracellular hormone receptor domain (3);	0.000000	0.85682	D	0.000000	D	0.98264	0.9425	M	0.90369	3.11	0.58432	D	0.999993	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	0.99264	1.0891	10	0.87932	D	0	.	13.1002	0.59216	0.0:0.0:0.0:1.0	.	64;64;64;64;64	B7ZLA7;Q17S10;E9PFU5;B8ZZK3;P41586	.;.;.;.;PACR_HUMAN	G	64	ENSP00000306620:W64G;ENSP00000387335:W64G;ENSP00000400893:W64G;ENSP00000379514:W64G;ENSP00000386395:W64G	ENSP00000306620:W64G	W	+	1	0	ADCYAP1R1	31084163	1.000000	0.71417	0.991000	0.47740	0.873000	0.50193	6.807000	0.75201	1.973000	0.57446	0.524000	0.50904	TGG	.		0.577	ADCYAP1R1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215041.3	NM_001118	
ANLN	54443	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	36450230	36450230	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:36450230C>T	ENST00000265748.2	+	6	1425	c.1204C>T	c.(1204-1206)Cca>Tca	p.P402S	ANLN_ENST00000396068.2_Missense_Mutation_p.P402S|ANLN_ENST00000495714.1_3'UTR	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	402	Interaction with F-actin.				hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|regulation of exit from mitosis (GO:0007096)|septin ring assembly (GO:0000921)	actin cytoskeleton (GO:0015629)|actomyosin contractile ring (GO:0005826)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	actin binding (GO:0003779)			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						CATTATTACTCCAAATACAAA	0.438																																					p.P402S		.											.	ANLN-517	0			c.C1204T						.						165.0	149.0	154.0					7																	36450230		2203	4300	6503	SO:0001583	missense	54443	exon6			ATTACTCCAAATA	AF273437	CCDS5447.1, CCDS64628.1	7p15-p14	2013-01-10	2006-08-22		ENSG00000011426	ENSG00000011426		"""Pleckstrin homology (PH) domain containing"""	14082	protein-coding gene	gene with protein product			"""anillin (Drosophila Scraps homolog), actin binding protein"", ""anillin, actin binding protein (scraps homolog, Drosophila)"""			10931866	Standard	NM_001284301		Approved	ANILLIN, Scraps, scra	uc003tff.3	Q9NQW6	OTTHUMG00000023143	ENST00000265748.2:c.1204C>T	7.37:g.36450230C>T	ENSP00000265748:p.Pro402Ser	111	0		154	57	NM_018685	0	0	16	35	19	Q5CZ78|Q6NSK5|Q9H8Y4|Q9NVN9|Q9NVP0	Missense_Mutation	SNP	ENST00000265748.2	37	CCDS5447.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.4|27.4	4.824319|4.824319	0.90955|0.90955	.|.	.|.	ENSG00000011426|ENSG00000011426	ENST00000265748;ENST00000396068|ENST00000428612	T;T|.	0.18810|.	2.36;2.19|.	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77512|0.77512	0.4141|0.4141	M|M	0.74258|0.74258	2.255|2.255	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	0.999;1.0;1.0;1.0|.	D;D;D;D|.	0.97110|.	0.948;0.995;1.0;1.0|.	T|T	0.76119|0.76119	-0.3076|-0.3076	10|5	0.54805|.	T|.	0.06|.	-16.1905|-16.1905	19.6758|19.6758	0.95932|0.95932	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	279;402;402;402|.	B4DSL6;A8K5D9;Q9NQW6-2;Q9NQW6|.	.;.;.;ANLN_HUMAN|.	S|F	402|21	ENSP00000265748:P402S;ENSP00000379380:P402S|.	ENSP00000265748:P402S|.	P|S	+|+	1|2	0|0	ANLN|ANLN	36416755|36416755	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.815000|0.815000	0.46073|0.46073	6.010000|6.010000	0.70753|0.70753	2.657000|2.657000	0.90304|0.90304	0.591000|0.591000	0.81541|0.81541	CCA|TCC	.		0.438	ANLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218582.3	NM_018685	
POU6F2	11281	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	39243895	39243895	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:39243895G>A	ENST00000403058.1	+	4	406	c.252G>A	c.(250-252)caG>caA	p.Q84Q	POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000559001.1_Silent_p.Q76Q|POU6F2_ENST00000518318.2_Silent_p.Q84Q	NM_001166018.1|NM_007252.3	NP_001159490.1|NP_009183.3	P78424	PO6F2_HUMAN	POU class 6 homeobox 2	84					central nervous system development (GO:0007417)|ganglion mother cell fate determination (GO:0007402)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						AGGCCAGTCAGACCCACCCCC	0.468																																					p.Q84Q		.											.	POU6F2-90	0			c.G252A						.						92.0	82.0	86.0					7																	39243895		2203	4300	6503	SO:0001819	synonymous_variant	11281	exon4			CAGTCAGACCCAC	U91934	CCDS34620.2, CCDS55103.1	7p14.1	2011-06-20	2007-07-13		ENSG00000106536	ENSG00000106536		"""Homeoboxes / POU class"""	21694	protein-coding gene	gene with protein product	"""Retina-derived POU-domain factor-1"""	609062	"""POU domain, class 6, transcription factor 2"""			8601806	Standard	NM_007252		Approved	RPF-1	uc003thb.2	P78424	OTTHUMG00000150803	ENST00000403058.1:c.252G>A	7.37:g.39243895G>A		91	1		109	38	NM_007252	0	0	0	0	0	A4D1W2|C4AMB9|P78425|Q75ME8|Q86UM6|Q9UDS7	Silent	SNP	ENST00000403058.1	37	CCDS34620.2																																																																																			.		0.468	POU6F2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320146.3	NM_007252	
NACAD	23148	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	45124123	45124123	+	Silent	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:45124123T>C	ENST00000490531.2	-	2	1675	c.1656A>G	c.(1654-1656)gaA>gaG	p.E552E		NM_001146334.1	NP_001139806.1	O15069	NACAD_HUMAN	NAC alpha domain containing	552					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(2)|skin(2)	5						TGAGGCTTGTTTCTTCCTGTG	0.547																																					p.E552E		.											.	.	0			c.A1656G						.						72.0	63.0	65.0					7																	45124123		692	1591	2283	SO:0001819	synonymous_variant	23148	exon2			GCTTGTTTCTTCC	AB002361	CCDS47582.1	7p13	2010-07-14			ENSG00000136274	ENSG00000136274			22196	protein-coding gene	gene with protein product							Standard	NM_001146334		Approved	KIAA0363	uc003tmt.3	O15069	OTTHUMG00000159170	ENST00000490531.2:c.1656A>G	7.37:g.45124123T>C		117	0		157	63	NM_001146334	0	0	0	0	0		Silent	SNP	ENST00000490531.2	37	CCDS47582.1																																																																																			.		0.547	NACAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353652.2	NM_001146334	
NACAD	23148	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	45124945	45124945	+	Silent	SNP	G	G	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:45124945G>T	ENST00000490531.2	-	2	853	c.834C>A	c.(832-834)tcC>tcA	p.S278S		NM_001146334.1	NP_001139806.1	O15069	NACAD_HUMAN	NAC alpha domain containing	278					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(2)|skin(2)	5						CAGAGAGGCTGGACTCAGAGG	0.657																																					p.S278S		.											.	.	0			c.C834A						.						16.0	22.0	20.0					7																	45124945		691	1591	2282	SO:0001819	synonymous_variant	23148	exon2			GAGGCTGGACTCA	AB002361	CCDS47582.1	7p13	2010-07-14			ENSG00000136274	ENSG00000136274			22196	protein-coding gene	gene with protein product							Standard	NM_001146334		Approved	KIAA0363	uc003tmt.3	O15069	OTTHUMG00000159170	ENST00000490531.2:c.834C>A	7.37:g.45124945G>T		115	0		126	52	NM_001146334	0	0	0	0	0		Silent	SNP	ENST00000490531.2	37	CCDS47582.1																																																																																			.		0.657	NACAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353652.2	NM_001146334	
NACAD	23148	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	45124952	45124952	+	Missense_Mutation	SNP	G	G	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:45124952G>C	ENST00000490531.2	-	2	846	c.827C>G	c.(826-828)tCt>tGt	p.S276C		NM_001146334.1	NP_001139806.1	O15069	NACAD_HUMAN	NAC alpha domain containing	276					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(2)|skin(2)	5						GCTGGACTCAGAGGACGGGGG	0.662																																					p.S276C		.											.	.	0			c.C827G						.						16.0	22.0	20.0					7																	45124952		692	1591	2283	SO:0001583	missense	23148	exon2			GACTCAGAGGACG	AB002361	CCDS47582.1	7p13	2010-07-14			ENSG00000136274	ENSG00000136274			22196	protein-coding gene	gene with protein product							Standard	NM_001146334		Approved	KIAA0363	uc003tmt.3	O15069	OTTHUMG00000159170	ENST00000490531.2:c.827C>G	7.37:g.45124952G>C	ENSP00000420477:p.Ser276Cys	107	0		120	50	NM_001146334	0	0	0	0	0		Missense_Mutation	SNP	ENST00000490531.2	37	CCDS47582.1	.	.	.	.	.	.	.	.	.	.	G	12.82	2.053287	0.36181	.	.	ENSG00000136274	ENST00000490531	T	0.18016	2.24	4.19	4.19	0.49359	.	1.792910	0.03815	U	0.266573	T	0.27832	0.0685	N	0.19112	0.55	0.26031	N	0.981731	D	0.76494	0.999	P	0.60012	0.867	T	0.42481	-0.9449	10	0.62326	D	0.03	-1.3229	11.8723	0.52527	0.0:0.0:1.0:0.0	.	276	O15069	NACAD_HUMAN	C	276	ENSP00000420477:S276C	ENSP00000420477:S276C	S	-	2	0	NACAD	45091477	1.000000	0.71417	0.969000	0.41365	0.165000	0.22458	5.873000	0.69644	2.167000	0.68274	0.462000	0.41574	TCT	.		0.662	NACAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353652.2	NM_001146334	
NACAD	23148	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	7	45125542	45125542	+	Silent	SNP	T	T	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:45125542T>A	ENST00000490531.2	-	2	256	c.237A>T	c.(235-237)gcA>gcT	p.A79A		NM_001146334.1	NP_001139806.1	O15069	NACAD_HUMAN	NAC alpha domain containing	79					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(2)|skin(2)	5						AGGCCGAGGGTGCCCCACCAG	0.751																																					p.A79A		.											.	.	0			c.A237T						.						9.0	15.0	13.0					7																	45125542		682	1582	2264	SO:0001819	synonymous_variant	23148	exon2			CGAGGGTGCCCCA	AB002361	CCDS47582.1	7p13	2010-07-14			ENSG00000136274	ENSG00000136274			22196	protein-coding gene	gene with protein product							Standard	NM_001146334		Approved	KIAA0363	uc003tmt.3	O15069	OTTHUMG00000159170	ENST00000490531.2:c.237A>T	7.37:g.45125542T>A		11	0		67	21	NM_001146334	0	0	0	0	0		Silent	SNP	ENST00000490531.2	37	CCDS47582.1																																																																																			.		0.751	NACAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353652.2	NM_001146334	
TBRG4	9238	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	45144212	45144212	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:45144212C>T	ENST00000258770.3	-	4	953	c.832G>A	c.(832-834)Gcc>Acc	p.A278T	SNORA5A_ENST00000384111.1_RNA|TBRG4_ENST00000494076.1_Missense_Mutation_p.A278T|SNORA5C_ENST00000364902.1_RNA|SNORA5B_ENST00000363786.1_RNA|TBRG4_ENST00000361278.3_Intron|TBRG4_ENST00000395655.4_Intron	NM_004749.3	NP_004740.2	Q969Z0	TBRG4_HUMAN	transforming growth factor beta regulator 4	278					cell cycle arrest (GO:0007050)|cellular respiration (GO:0045333)|positive regulation of cell proliferation (GO:0008284)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2)	17						TAGGAGATGGCCCGCAGCAAG	0.607																																					p.A289T		.											.	TBRG4-90	0			c.G865A						.						84.0	72.0	76.0					7																	45144212		2203	4300	6503	SO:0001583	missense	9238	exon4			AGATGGCCCGCAG	AB023165	CCDS5501.1, CCDS5502.1	7p13	2006-07-07			ENSG00000136270	ENSG00000136270			17443	protein-coding gene	gene with protein product	"""FAST kinase domains 4"", ""cell cycle progression 2 protein"""	611325				9383053	Standard	NM_004749		Approved	Cpr2, KIAA0948, H_TD2522F11.8, FASTKD4	uc011kcd.3	Q969Z0	OTTHUMG00000129247	ENST00000258770.3:c.832G>A	7.37:g.45144212C>T	ENSP00000258770:p.Ala278Thr	243	0		331	151	NM_001261834	0	2	45	91	44	A4D2L2|A4D2L3|D3DVL5|D3DVL6|O14710|Q53GI8|Q8NDM4|Q9BUC6|Q9Y2F6	Missense_Mutation	SNP	ENST00000258770.3	37	CCDS5501.1	.	.	.	.	.	.	.	.	.	.	C	36	5.794212	0.96952	.	.	ENSG00000136270	ENST00000258770;ENST00000494076;ENST00000478532;ENST00000461363	T;T;T;T	0.67171	2.82;2.82;-0.25;-0.15	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.78432	0.4282	M	0.72894	2.215	0.80722	D	1	D;D	0.71674	0.995;0.998	P;D	0.63113	0.814;0.911	T	0.74515	-0.3640	10	0.23891	T	0.37	.	16.5312	0.84361	0.0:1.0:0.0:0.0	.	289;278	B4DU42;Q969Z0	.;TBRG4_HUMAN	T	278;278;243;224	ENSP00000258770:A278T;ENSP00000420597:A278T;ENSP00000418631:A243T;ENSP00000417743:A224T	ENSP00000258770:A278T	A	-	1	0	TBRG4	45110737	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.599000	0.67592	2.664000	0.90586	0.655000	0.94253	GCC	.		0.607	TBRG4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251351.1	NM_030900	
RAMP3	10268	hgsc.bcm.edu;bcgsc.ca	37	7	45222787	45222787	+	Frame_Shift_Del	DEL	A	A	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:45222787delA	ENST00000242249.4	+	3	261	c.223delA	c.(223-225)atgfs	p.M75fs	RAMP3_ENST00000481345.1_Frame_Shift_Del_p.M75fs|RAMP3_ENST00000496212.1_Frame_Shift_Del_p.M75fs	NM_005856.2	NP_005847.1	O60896	RAMP3_HUMAN	receptor (G protein-coupled) activity modifying protein 3	75					calcium ion transport (GO:0006816)|cellular response to estradiol stimulus (GO:0071392)|G-protein coupled receptor signaling pathway involved in heart process (GO:0086103)|intracellular protein transport (GO:0006886)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of receptor recycling (GO:0001921)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			breast(1)|endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	11					Pramlintide(DB01278)	CTGCACCGAGATGGAGGCCAA	0.612																																					p.M75fs		.											.	RAMP3-90	0			c.223delA						.						76.0	73.0	74.0					7																	45222787		2203	4300	6503	SO:0001589	frameshift_variant	10268	exon3			ACCGAGATGGAGG	AJ001016	CCDS5503.1	7p13-p12	2006-11-21	2006-11-21		ENSG00000122679	ENSG00000122679		"""Receptor (G protein-coupled) activity modifying proteins"""	9845	protein-coding gene	gene with protein product		605155	"""receptor activity modifying protein 3"", ""receptor (calcitonin) activity modifying protein 3"""				Standard	NM_005856		Approved		uc003tnb.3	O60896	OTTHUMG00000023729	ENST00000242249.4:c.223delA	7.37:g.45222787delA	ENSP00000242249:p.Met75fs	43	0		57	22	NM_005856	0	0	0	0	0	Q7Z2Y1	Frame_Shift_Del	DEL	ENST00000242249.4	37	CCDS5503.1																																																																																			.		0.612	RAMP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251343.1	NM_005856	
IGFBP3	3486	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	45954540	45954540	+	Missense_Mutation	SNP	C	C	T	rs17847676		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:45954540C>T	ENST00000275521.6	-	4	888	c.755G>A	c.(754-756)cGc>cAc	p.R252H	IGFBP3_ENST00000381086.5_Missense_Mutation_p.R155H|IGFBP3_ENST00000381083.4_Missense_Mutation_p.R258H|IGFBP3_ENST00000465642.1_5'Flank	NM_000598.4|NM_001013398.1	NP_000589.2|NP_001013416.1	P17936	IBP3_HUMAN	insulin-like growth factor binding protein 3	252	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.		R -> C (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		apoptotic process (GO:0006915)|cellular protein metabolic process (GO:0044267)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of signal transduction (GO:0009968)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoblast differentiation (GO:0001649)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of myoblast differentiation (GO:0045663)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of glucose metabolic process (GO:0010906)|type B pancreatic cell proliferation (GO:0044342)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|insulin-like growth factor binding protein complex (GO:0016942)|nucleus (GO:0005634)	insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|metal ion binding (GO:0046872)|protein tyrosine phosphatase activator activity (GO:0008160)			large_intestine(6)|lung(7)|pancreas(1)|prostate(3)	17					Mecasermin(DB01277)	TTTGGAAGGGCGACACTGTGG	0.592													C|||	1	0.000199681	0.0	0.0	5008	,	,		19541	0.001		0.0	False		,,,				2504	0.0				p.R258H		.											.	IGFBP3-1009	0			c.G773A						.						60.0	56.0	58.0					7																	45954540		2203	4300	6503	SO:0001583	missense	3486	exon4			GAAGGGCGACACT		CCDS5505.1, CCDS34632.1	7p12.3	2014-09-17			ENSG00000146674	ENSG00000146674			5472	protein-coding gene	gene with protein product	"""growth hormone-dependent binding protein"", ""acid stable subunit of the 140 K IGF complex"", ""binding protein 53"", ""binding protein 29"", ""IGF-binding protein 3"""	146732				1695633	Standard	NM_000598		Approved	IBP3, BP-53	uc003tnr.3	P17936	OTTHUMG00000023769	ENST00000275521.6:c.755G>A	7.37:g.45954540C>T	ENSP00000275521:p.Arg252His	92	0		124	45	NM_001013398	0	0	0	0	0	A4D2F5|D3DVM0|Q2V509|Q6P1M6|Q9UCL4	Missense_Mutation	SNP	ENST00000275521.6	37	CCDS5505.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.6|24.6	4.547083|4.547083	0.86022|0.86022	.|.	.|.	ENSG00000146674|ENSG00000146674	ENST00000428530|ENST00000545032;ENST00000275521;ENST00000381086;ENST00000438491;ENST00000442142;ENST00000381083;ENST00000433047	.|T;T;T	.|0.61510	.|0.1;0.1;0.1	5.29|5.29	5.29|5.29	0.74685|0.74685	.|Thyroglobulin type-1 (6);	.|0.055901	.|0.64402	.|D	.|0.000001	T|T	0.59514|0.59514	0.2199|0.2199	N|N	0.12443|0.12443	0.215|0.215	0.43372|0.43372	D|D	0.995469|0.995469	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.999;0.999;0.999	T|T	0.63829|0.63829	-0.6548|-0.6548	5|10	.|0.46703	.|T	.|0.11	-44.1319|-44.1319	14.4435|14.4435	0.67333|0.67333	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	rs17847676|rs17847676	.|155;252;237	.|B3KWK7;P17936;B4DN53	.|.;IBP3_HUMAN;.	T|H	104|229;252;155;238;150;258;224	.|ENSP00000275521:R252H;ENSP00000370476:R155H;ENSP00000370473:R258H	.|ENSP00000275521:R252H	A|R	-|-	1|2	0|0	IGFBP3|IGFBP3	45921065|45921065	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.878000|0.878000	0.50629|0.50629	5.336000|5.336000	0.65935|0.65935	2.473000|2.473000	0.83533|0.83533	0.655000|0.655000	0.94253|0.94253	GCC|CGC	.		0.592	IGFBP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251356.3	NM_001013398	
PKD1L1	168507	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	47983029	47983029	+	Missense_Mutation	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:47983029A>G	ENST00000289672.2	-	2	174	c.124T>C	c.(124-126)Tgc>Cgc	p.C42R		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	42					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						CTACAGCTGCACAGATGAAGA	0.522																																					p.C42R		.											.	PKD1L1-145	0			c.T124C						.						111.0	103.0	106.0					7																	47983029		2203	4300	6503	SO:0001583	missense	168507	exon2			AGCTGCACAGATG	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.124T>C	7.37:g.47983029A>G	ENSP00000289672:p.Cys42Arg	271	0		343	138	NM_138295	0	0	1	1	0	Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	A	6.820	0.520392	0.13005	.	.	ENSG00000158683	ENST00000289672	T	0.23950	1.88	1.97	0.77	0.18497	.	.	.	.	.	T	0.10508	0.0257	N	0.08118	0	0.09310	N	1	P	0.40302	0.712	B	0.35353	0.201	T	0.16012	-1.0417	9	0.87932	D	0	.	3.7605	0.08602	0.7985:0.0:0.2015:0.0	.	42	Q8TDX9	PK1L1_HUMAN	R	42	ENSP00000289672:C42R	ENSP00000289672:C42R	C	-	1	0	PKD1L1	47949554	0.000000	0.05858	0.001000	0.08648	0.105000	0.19272	-0.577000	0.05847	0.210000	0.20664	0.456000	0.33151	TGC	.		0.522	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295	
ABCA13	154664	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	48311465	48311465	+	Silent	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:48311465A>G	ENST00000435803.1	+	17	2226	c.2202A>G	c.(2200-2202)ttA>ttG	p.L734L		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	734					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ACTTTCTTTTATCATTTGTGG	0.353																																					p.L734L		.											.	ABCA13-521	0			c.A2202G						.						51.0	48.0	49.0					7																	48311465		1808	4069	5877	SO:0001819	synonymous_variant	154664	exon17			TCTTTTATCATTT	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.2202A>G	7.37:g.48311465A>G		79	0		69	34	NM_152701	0	0	0	0	0	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	ENST00000435803.1	37	CCDS47584.1																																																																																			.		0.353	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701	
COBL	23242	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	51096471	51096471	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:51096471G>A	ENST00000265136.7	-	10	2487	c.2322C>T	c.(2320-2322)aaC>aaT	p.N774N	COBL_ENST00000395542.2_Silent_p.N856N	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	774					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					TTTCCACAGAGTTGCACCTCC	0.592																																					p.N774N	NSCLC(189;2119 2138 12223 30818 34679)	.											.	COBL-95	0			c.C2322T						.						43.0	45.0	44.0					7																	51096471		2203	4300	6503	SO:0001819	synonymous_variant	23242	exon10			CACAGAGTTGCAC	AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"""cordon-bleu homolog (mouse)"""				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.2322C>T	7.37:g.51096471G>A		59	0		88	36	NM_015198	0	0	0	0	0	A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Silent	SNP	ENST00000265136.7	37	CCDS34637.1	.	.	.	.	.	.	.	.	.	.	G	4.822	0.152845	0.09185	.	.	ENSG00000106078	ENST00000457306	.	.	.	5.83	2.99	0.34606	.	.	.	.	.	T	0.40171	0.1106	.	.	.	0.20703	N	0.999866	.	.	.	.	.	.	T	0.36648	-0.9739	5	0.87932	D	0	.	5.1823	0.15167	0.2906:0.1485:0.5608:0.0	.	.	.	.	I	220	.	ENSP00000397300:T220I	T	-	2	0	COBL	51063965	0.037000	0.19845	0.056000	0.19401	0.077000	0.17291	0.191000	0.17076	0.785000	0.33685	0.655000	0.94253	ACT	.		0.592	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198	
AUTS2	26053	broad.mit.edu	37	7	70255070	70255070	+	Missense_Mutation	SNP	C	C	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:70255070C>A	ENST00000342771.4	+	19	3189	c.2868C>A	c.(2866-2868)agC>agA	p.S956R	AUTS2_ENST00000406775.2_Missense_Mutation_p.S932R	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	956										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GGCCCAACAGCACCTCGAGCC	0.706																																					p.S956R		.											.	AUTS2-92	0			c.C2868A						.						11.0	12.0	11.0					7																	70255070		2172	4263	6435	SO:0001583	missense	26053	exon19			CAACAGCACCTCG	AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.2868C>A	7.37:g.70255070C>A	ENSP00000344087:p.Ser956Arg	78	4		199	12	NM_015570	0	0	3	3	0	A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Missense_Mutation	SNP	ENST00000342771.4	37	CCDS5539.1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.996475	0.54147	.	.	ENSG00000158321	ENST00000406775;ENST00000342771	T;T	0.33216	1.42;1.43	4.28	2.47	0.30058	.	0.043042	0.85682	D	0.000000	T	0.38772	0.1053	L	0.42245	1.32	0.80722	D	1	D;D;D	0.71674	0.958;0.998;0.998	P;P;P	0.62649	0.663;0.905;0.905	T	0.05338	-1.0891	9	.	.	.	-17.3685	8.3689	0.32404	0.0:0.6769:0.0:0.3231	.	408;932;956	B4DLG0;Q8WXX7-2;Q8WXX7	.;.;AUTS2_HUMAN	R	932;956	ENSP00000385263:S932R;ENSP00000344087:S956R	.	S	+	3	2	AUTS2	69893006	0.898000	0.30612	0.999000	0.59377	0.999000	0.98932	-0.070000	0.11523	0.454000	0.26884	0.655000	0.94253	AGC	.		0.706	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2		
AUTS2	26053	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	7	70255628	70255628	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:70255628G>A	ENST00000342771.4	+	19	3747	c.3426G>A	c.(3424-3426)gaG>gaA	p.E1142E	AUTS2_ENST00000406775.2_Silent_p.E1118E	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	1142	His-rich.									breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CTCGGCGGGAGCACGAGCGGG	0.682																																					p.E1142E		.											.	AUTS2-92	0			c.G3426A						.						18.0	19.0	19.0					7																	70255628		2198	4288	6486	SO:0001819	synonymous_variant	26053	exon19			GCGGGAGCACGAG	AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.3426G>A	7.37:g.70255628G>A		53	0		113	49	NM_015570	0	0	11	18	7	A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Silent	SNP	ENST00000342771.4	37	CCDS5539.1																																																																																			.		0.682	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2		
TYW1B	441250	broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	72159704	72159704	+	RNA	SNP	A	A	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:72159704A>C	ENST00000435769.2	-	0	1602				TYW1B_ENST00000343721.5_RNA|TYW1B_ENST00000438125.1_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing (GO:0008033)		4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)										TTAAACTGTCAAGGAATTGCT	0.408																																					.		.											.	.	0			.						.						97.0	82.0	86.0					7																	72159704		692	1591	2283			441250	.			ACTGTCAAGGAAT	BC068520	CCDS69309.1	7q11.23	2011-08-11	2009-07-28		ENSG00000254184	ENSG00000277149			33908	protein-coding gene	gene with protein product	"""radical S-adenosyl methionine and flavodoxin domains 1"", ""non-protein coding RNA 69"", ""long intergenic non-protein coding RNA 69"""		"""tRNA-yW synthesizing protein 1 homolog B (non-protein coding)"""				Standard	NM_001145440		Approved	RSAFD2, MGC87315, NCRNA00069, LINC00069	uc011kej.2	Q6NUM6	OTTHUMG00000157067		7.37:g.72159704A>C		101	1		122	55	.	0	0	0	0	0	A6NG09|B4DFY2|Q3KQX2	RNA	SNP	ENST00000435769.2	37																																																																																				.		0.408	TYW1B-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347346.2	NM_001145440	
FZD9	8326	ucsc.edu;bcgsc.ca	37	7	72850023	72850023	+	Silent	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:72850023A>G	ENST00000344575.3	+	1	1915	c.1686A>G	c.(1684-1686)ggA>ggG	p.G562G		NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN	frizzled class receptor 9	562					B cell differentiation (GO:0030183)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|gonad development (GO:0008406)|learning or memory (GO:0007611)|nervous system development (GO:0007399)|neuroblast proliferation (GO:0007405)|vasculature development (GO:0001944)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14		Lung NSC(55;0.0659)|all_lung(88;0.152)				GGAGCTACGGACGTGGCACGC	0.642																																					p.G562G	Pancreas(144;909 1878 36867 38226 39554)	.											.	FZD9-1082	0			c.A1686G						.						48.0	59.0	55.0					7																	72850023		2203	4300	6503	SO:0001819	synonymous_variant	8326	exon1			CTACGGACGTGGC	U82169	CCDS5548.1	7q11.23	2014-01-29	2014-01-29		ENSG00000188763	ENSG00000188763		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4047	protein-coding gene	gene with protein product		601766	"""frizzled (Drosophila) homolog 9"", ""frizzled homolog 9 (Drosophila)"", ""frizzled 9, seven transmembrane spanning receptor"", ""frizzled family receptor 9"""			9147651, 10198163	Standard	NM_003508		Approved	FZD3, CD349	uc003tyb.3	O00144	OTTHUMG00000023051	ENST00000344575.3:c.1686A>G	7.37:g.72850023A>G		162	2		272	95	NM_003508	0	0	3	4	1		Silent	SNP	ENST00000344575.3	37	CCDS5548.1																																																																																			.		0.642	FZD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252120.1		
TBL2	26608	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	72985169	72985169	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:72985169C>T	ENST00000305632.5	-	7	1253	c.1012G>A	c.(1012-1014)Gcc>Acc	p.A338T	TBL2_ENST00000459913.1_5'UTR|TBL2_ENST00000432538.1_Missense_Mutation_p.A302T	NM_012453.2	NP_036585.1	Q9Y4P3	TBL2_HUMAN	transducin (beta)-like 2	338							poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19		Lung NSC(55;0.0659)|all_lung(88;0.152)				GGGGAGAGGGCCAGGCGGCAC	0.612																																					p.A338T		.											.	TBL2-90	0			c.G1012A						.						60.0	63.0	62.0					7																	72985169		2203	4300	6503	SO:0001583	missense	26608	exon7			AGAGGGCCAGGCG	AF056183	CCDS5551.1	7q11.23	2013-01-10			ENSG00000106638	ENSG00000106638		"""WD repeat domain containing"""	11586	protein-coding gene	gene with protein product	"""Williams-Beuren syndrome chromosome region 13"""	605842				9860302, 10575226	Standard	XM_006715923		Approved	WS-betaTRP, WBSCR13, DKFZP43N024	uc003tyh.3	Q9Y4P3	OTTHUMG00000023427	ENST00000305632.5:c.1012G>A	7.37:g.72985169C>T	ENSP00000307260:p.Ala338Thr	32	0		58	23	NM_012453	0	0	23	40	17	Q9UQE2	Missense_Mutation	SNP	ENST00000305632.5	37	CCDS5551.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.166650	0.78339	.	.	ENSG00000106638	ENST00000305632;ENST00000541783;ENST00000432538	T;T	0.33865	1.39;1.39	5.98	5.98	0.97165	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.64068	0.2565	M	0.83852	2.665	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.70487	0.969;0.957	T	0.63924	-0.6527	10	0.46703	T	0.11	-13.5811	17.9231	0.88973	0.0:1.0:0.0:0.0	.	302;338	E9PF19;Q9Y4P3	.;TBL2_HUMAN	T	338;338;302	ENSP00000307260:A338T;ENSP00000413979:A302T	ENSP00000307260:A338T	A	-	1	0	TBL2	72623105	1.000000	0.71417	0.999000	0.59377	0.118000	0.20060	4.554000	0.60760	2.833000	0.97629	0.655000	0.94253	GCC	.		0.612	TBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252233.3	NM_012453	
WBSCR28	135886	ucsc.edu;bcgsc.ca	37	7	73279962	73279962	+	Missense_Mutation	SNP	A	A	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:73279962A>T	ENST00000320531.2	+	3	593	c.557A>T	c.(556-558)tAt>tTt	p.Y186F		NM_182504.3	NP_872310.2	Q6UE05	WBS28_HUMAN	Williams-Beuren syndrome chromosome region 28	186						integral component of membrane (GO:0016021)				breast(2)|kidney(2)|lung(6)|skin(1)	11		Lung NSC(55;0.159)				AGACGTCTGTATTGGTGGGTG	0.587																																					p.Y186F		.											.	WBSCR28-90	0			c.A557T						.						166.0	172.0	170.0					7																	73279962		2202	4295	6497	SO:0001583	missense	135886	exon3			GTCTGTATTGGTG	BC030643	CCDS43597.1	7q11.23	2006-07-04			ENSG00000175877	ENSG00000175877			23018	protein-coding gene	gene with protein product		612547				8812460	Standard	NM_182504		Approved	MGC26719	uc003tzk.2	Q6UE05	OTTHUMG00000157243	ENST00000320531.2:c.557A>T	7.37:g.73279962A>T	ENSP00000316775:p.Tyr186Phe	272	2		301	124	NM_182504	0	0	0	0	0	Q6UE04|Q8NHP4	Missense_Mutation	SNP	ENST00000320531.2	37	CCDS43597.1	.	.	.	.	.	.	.	.	.	.	A	7.861	0.726075	0.15439	.	.	ENSG00000175877	ENST00000320531	T	0.27720	1.65	4.15	0.332	0.15938	.	0.231850	0.22358	N	0.061118	T	0.27967	0.0689	L	0.36672	1.1	0.21105	N	0.99978	D	0.54207	0.965	P	0.52793	0.709	T	0.10132	-1.0643	10	0.37606	T	0.19	-11.0658	5.0108	0.14312	0.4717:0.4214:0.107:0.0	.	186	Q6UE05	WBS28_HUMAN	F	186	ENSP00000316775:Y186F	ENSP00000316775:Y186F	Y	+	2	0	WBSCR28	72917898	0.156000	0.22821	0.431000	0.26735	0.155000	0.21991	0.182000	0.16900	-0.022000	0.13986	-0.328000	0.08392	TAT	.		0.587	WBSCR28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348130.1	NM_182504	
GTF2IRD2B	389524	bcgsc.ca	37	7	74538966	74538966	+	Missense_Mutation	SNP	C	C	T	rs200012926	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:74538966C>T	ENST00000312575.7	+	5	563	c.388C>T	c.(388-390)Cct>Tct	p.P130S	GTF2IRD2B_ENST00000356115.5_Missense_Mutation_p.P130S|GTF2IRD2B_ENST00000430511.2_Missense_Mutation_p.P130S	NM_001003795.2	NP_001003795.1	Q6EKJ0	GTD2B_HUMAN	GTF2I repeat domain containing 2B	130					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|ovary(2)|prostate(1)	4						AGTGATGGTGCCTGTTCCCTA	0.478																																					p.P130S		.											.	GTF2IRD2B-45	0			c.C388T						.																																			SO:0001583	missense	389524	exon5			ATGGTGCCTGTTC	AY312850	CCDS34659.1	7q11.23	2014-05-06			ENSG00000174428	ENSG00000174428			33125	protein-coding gene	gene with protein product		608900				15100712	Standard	XM_005277580		Approved		uc003ubt.3	Q6EKJ0	OTTHUMG00000181534	ENST00000312575.7:c.388C>T	7.37:g.74538966C>T	ENSP00000308080:p.Pro130Ser	901	2		1168	33	NM_001003795	0	0	12	12	0	B2RNE9|Q69GU6|Q8N979|Q9H739	Missense_Mutation	SNP	ENST00000312575.7	37	CCDS34659.1	.	.	.	.	.	.	.	.	.	.	C	13.31	2.200097	0.38905	.	.	ENSG00000174428	ENST00000356115;ENST00000430511;ENST00000312575	T;T;T	0.43294	0.95;0.95;0.95	4.01	3.13	0.36017	.	.	.	.	.	T	0.59348	0.2187	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.61783	-0.6992	9	0.87932	D	0	-24.7571	10.5736	0.45214	0.0:0.9024:0.0:0.0976	.	130;130	Q86UP8-2;Q6EKJ0	.;GTD2B_HUMAN	S	130	ENSP00000348427:P130S;ENSP00000413588:P130S;ENSP00000308080:P130S	ENSP00000308080:P130S	P	+	1	0	GTF2IRD2B	74176902	0.993000	0.37304	0.399000	0.26333	0.094000	0.18550	3.376000	0.52417	1.012000	0.39366	0.585000	0.79938	CCT	C|0.500;T|0.500		0.478	GTF2IRD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342728.1	NM_001003795	
TMEM60	85025	hgsc.bcm.edu;broad.mit.edu	37	7	77423460	77423460	+	Frame_Shift_Del	DEL	T	T	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:77423460delT	ENST00000257663.3	-	2	607	c.231delA	c.(229-231)aaafs	p.K77fs		NM_032936.3	NP_116325.1	Q9H2L4	TMM60_HUMAN	transmembrane protein 60	77						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(2)	4						GGTACCAGGCTTTTTTTTTAA	0.408																																					p.K77fs		.											.	TMEM60-90	0			c.231delA						.						142.0	141.0	141.0					7																	77423460		2203	4300	6503	SO:0001589	frameshift_variant	85025	exon2			CCAGGCTTTTTTT	AF260336	CCDS5593.1	7q11.23	2005-07-25	2005-07-25	2005-07-25	ENSG00000135211	ENSG00000135211			21754	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 35"""	C7orf35			Standard	NM_032936		Approved	DC32	uc003ugn.3	Q9H2L4	OTTHUMG00000130689	ENST00000257663.3:c.231delA	7.37:g.77423460delT	ENSP00000257663:p.Lys77fs	69	0		108	45	NM_032936	0	0	0	0	0	A4D1C3|Q86UM0	Frame_Shift_Del	DEL	ENST00000257663.3	37	CCDS5593.1																																																																																			.		0.408	TMEM60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253185.2	NM_032936	
KIAA1324L	222223	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	86537770	86537770	+	Missense_Mutation	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:86537770A>G	ENST00000450689.2	-	17	2634	c.2449T>C	c.(2449-2451)Ttt>Ctt	p.F817L	KIAA1324L_ENST00000416314.1_Missense_Mutation_p.F650L|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.F746L|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.F577L	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	817						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					TACTTATAAAAGAAATGCACA	0.299																																					p.F817L		.											.	KIAA1324L-97	0			c.T2449C						.						108.0	113.0	111.0					7																	86537770		2202	4295	6497	SO:0001583	missense	222223	exon17			TATAAAAGAAATG	AK055902	CCDS34677.1, CCDS47632.1, CCDS34677.2	7q21.12	2008-09-18			ENSG00000164659	ENSG00000164659			21945	protein-coding gene	gene with protein product	"""EIG121-like"""	614048					Standard	NM_001142749		Approved	FLJ31340, EIG121L	uc011kha.2	A8MWY0	OTTHUMG00000153995	ENST00000450689.2:c.2449T>C	7.37:g.86537770A>G	ENSP00000413445:p.Phe817Leu	33	0		46	17	NM_001142749	0	0	0	0	0	A4D1C9|B4DJV3|Q17RI6|Q96DP2	Missense_Mutation	SNP	ENST00000450689.2	37	CCDS47632.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.33|17.33	3.361628|3.361628	0.61403|0.61403	.|.	.|.	ENSG00000164659|ENSG00000164659	ENST00000450689;ENST00000297222;ENST00000444627;ENST00000416314|ENST00000423294	T;T;T;T|.	0.03689|.	3.84;3.84;3.84;3.84|.	5.8|5.8	5.8|5.8	0.92144|0.92144	Mannose-6-phosphate receptor, binding (1);|.	0.049272|.	0.85682|.	D|.	0.000000|.	T|T	0.75845|0.75845	0.3905|0.3905	M|M	0.77103|0.77103	2.36|2.36	0.58432|0.58432	D|D	0.999998|0.999998	P;B;B|.	0.50943|.	0.94;0.4;0.4|.	P;B;B|.	0.53760|.	0.734;0.225;0.225|.	T|T	0.76788|0.76788	-0.2830|-0.2830	10|5	0.33940|.	T|.	0.23|.	.|.	15.3408|15.3408	0.74296|0.74296	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	817;577;650|.	A8MWY0;A8MWY0-2;B4DJV3|.	K132L_HUMAN;.;.|.	L|P	817;577;746;650|777	ENSP00000413445:F817L;ENSP00000297222:F577L;ENSP00000397377:F746L;ENSP00000402390:F650L|.	ENSP00000297222:F577L|.	F|L	-|-	1|2	0|0	KIAA1324L|KIAA1324L	86375706|86375706	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	5.541000|5.541000	0.67212|0.67212	2.216000|2.216000	0.71823|0.71823	0.533000|0.533000	0.62120|0.62120	TTT|CTT	.		0.299	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333372.3	NM_152748	
CROT	54677	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	86998758	86998758	+	Missense_Mutation	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:86998758T>C	ENST00000331536.3	+	7	799	c.614T>C	c.(613-615)gTa>gCa	p.V205A	CROT_ENST00000419147.2_Missense_Mutation_p.V233A|CROT_ENST00000442291.1_Missense_Mutation_p.V205A	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	205					carnitine metabolic process (GO:0009437)|cellular lipid metabolic process (GO:0044255)|coenzyme A metabolic process (GO:0015936)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|generation of precursor metabolites and energy (GO:0006091)|medium-chain fatty acid metabolic process (GO:0051791)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-octanoyltransferase activity (GO:0008458)|receptor binding (GO:0005102)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	GTCTTTGATGTAATACATGAA	0.423																																					p.V233A		.											.	CROT-280	0			c.T698C						.						214.0	199.0	204.0					7																	86998758		2203	4300	6503	SO:0001583	missense	54677	exon8			TTGATGTAATACA		CCDS5604.1, CCDS47634.1, CCDS59062.1	7q21.1	2010-02-26			ENSG00000005469	ENSG00000005469			2366	protein-coding gene	gene with protein product		606090				10486279	Standard	NM_021151		Approved	COT	uc003uit.3	Q9UKG9	OTTHUMG00000023653	ENST00000331536.3:c.614T>C	7.37:g.86998758T>C	ENSP00000331981:p.Val205Ala	116	1		143	57	NM_001143935	0	0	1	11	10	A4D1D6|E7EQF2|Q86V17|Q8IUW9|Q9Y6I2	Missense_Mutation	SNP	ENST00000331536.3	37	CCDS5604.1	.	.	.	.	.	.	.	.	.	.	T	1.939	-0.443966	0.04604	.	.	ENSG00000005469	ENST00000419147;ENST00000331536;ENST00000442291	D;D;D	0.91237	-2.81;-2.81;-2.81	5.1	0.0717	0.14383	.	0.596956	0.18290	N	0.145728	D	0.84302	0.5442	L	0.45581	1.43	0.19775	N	0.999953	B;B	0.11235	0.001;0.004	B;B	0.14023	0.007;0.01	T	0.72947	-0.4137	10	0.48119	T	0.1	-2.177	6.6979	0.23209	0.0:0.3712:0.1285:0.5004	.	233;205	E7EQF2;Q9UKG9	.;OCTC_HUMAN	A	233;205;205	ENSP00000413575:V233A;ENSP00000331981:V205A;ENSP00000411983:V205A	ENSP00000331981:V205A	V	+	2	0	CROT	86836694	0.018000	0.18449	0.016000	0.15963	0.975000	0.68041	0.185000	0.16958	-0.060000	0.13132	0.477000	0.44152	GTA	.		0.423	CROT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253485.1	NM_021151	
ZNF804B	219578	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	88963113	88963113	+	Missense_Mutation	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:88963113A>G	ENST00000333190.4	+	4	1426	c.817A>G	c.(817-819)Aca>Gca	p.T273A		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	273							metal ion binding (GO:0046872)	p.T273A(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AAATAAAGATACACACCTTAC	0.358										HNSCC(36;0.09)																											p.T273A		.											.	ZNF804B-101	1	Substitution - Missense(1)	large_intestine(1)	c.A817G						.						74.0	69.0	70.0					7																	88963113		2202	4300	6502	SO:0001583	missense	219578	exon4			AAAGATACACACC	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.817A>G	7.37:g.88963113A>G	ENSP00000329638:p.Thr273Ala	121	0		131	66	NM_181646	0	0	0	0	0	B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	A	0.006	-2.023091	0.00414	.	.	ENSG00000182348	ENST00000333190	T	0.04454	3.62	5.04	2.69	0.31865	.	1.119620	0.06624	N	0.758025	T	0.02649	0.0080	N	0.05124	-0.11	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.45977	-0.9224	10	0.08837	T	0.75	0.4056	7.5759	0.27935	0.6445:0.0:0.3555:0.0	.	273	A4D1E1	Z804B_HUMAN	A	273	ENSP00000329638:T273A	ENSP00000329638:T273A	T	+	1	0	ZNF804B	88801049	0.000000	0.05858	0.001000	0.08648	0.483000	0.33249	-0.075000	0.11431	0.416000	0.25844	0.533000	0.62120	ACA	.		0.358	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646	
PEX1	5189	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	92134188	92134188	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:92134188G>A	ENST00000248633.4	-	12	2024	c.1929C>T	c.(1927-1929)acC>acT	p.T643T	PEX1_ENST00000541751.1_Silent_p.T60T|PEX1_ENST00000438045.1_Silent_p.T321T|PEX1_ENST00000428214.1_Intron	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	643			Missing (in PBD1A and PBD1B). {ECO:0000269|PubMed:9539740}.		ATP catabolic process (GO:0006200)|microtubule-based peroxisome localization (GO:0060152)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			CCACCTCTAGGGTTTTTTGTA	0.443																																					p.T643T		.											.	PEX1-91	0			c.C1929T						.						147.0	152.0	150.0					7																	92134188		2203	4300	6503	SO:0001819	synonymous_variant	5189	exon12			CTCTAGGGTTTTT	AF026086	CCDS5627.1, CCDS64710.1	7q21.2	2010-04-21	2008-08-26		ENSG00000127980	ENSG00000127980		"""ATPases / AAA-type"""	8850	protein-coding gene	gene with protein product		602136	"""peroxisome biogenesis factor 1"", ""Zellweger syndrome 1"", ""Zellweger syndrome"""	ZWS1, ZWS		9398848	Standard	NM_001282677		Approved		uc003uly.3	O43933	OTTHUMG00000023926	ENST00000248633.4:c.1929C>T	7.37:g.92134188G>A		62	0		64	22	NM_000466	0	0	7	11	4	A4D1G3|A8KA90|B4DIM7|E9PE75|Q96S71|Q96S72|Q96S73|Q99994	Silent	SNP	ENST00000248633.4	37	CCDS5627.1																																																																																			.		0.443	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254066.3	NM_000466	
ZNF394	84124	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	7	99091800	99091800	+	Frame_Shift_Del	DEL	A	A	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:99091800delA	ENST00000337673.6	-	3	1241	c.1038delT	c.(1036-1038)tttfs	p.F346fs	ZNF394_ENST00000394177.3_5'Flank|ZNF789_ENST00000493485.1_Intron|ZNF394_ENST00000426306.2_3'UTR|ZNF789_ENST00000494186.1_Intron	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN	zinc finger protein 394	346					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|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)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TCTGGGTCTCAAAAAGGCTGG	0.473																																					p.F346fs	Ovarian(24;589 697 9939 12704 40742)	.											.	ZNF394-90	0			c.1038delT						.						113.0	106.0	108.0					7																	99091800		2203	4300	6503	SO:0001589	frameshift_variant	84124	exon3			GGTCTCAAAAAGG	BC025241	CCDS5666.1	7q22.1	2014-01-28			ENSG00000160908	ENSG00000160908		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	18832	protein-coding gene	gene with protein product							Standard	NM_032164		Approved	ZKSCAN14, FLJ12298, ZSCAN46	uc003uqs.3	Q53GI3	OTTHUMG00000154660	ENST00000337673.6:c.1038delT	7.37:g.99091800delA	ENSP00000337363:p.Phe346fs	192	0		242	107	NM_032164	0	0	0	0	0	A4D281|Q05DA6|Q6P5X9|Q8TB27|Q9HA37|Q9UD51	Frame_Shift_Del	DEL	ENST00000337673.6	37	CCDS5666.1																																																																																			.		0.473	ZNF394-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336498.1	NM_032164	
FAM200A	221786	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	7	99144838	99144839	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	AT	AT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:99144838_99144839delAT	ENST00000449309.1	-	2	1571_1572	c.1192_1193delAT	c.(1192-1194)atgfs	p.M398fs		NM_145111.3	NP_659802.1	Q8TCP9	F200A_HUMAN	family with sequence similarity 200, member A	398						integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			endometrium(1)|kidney(5)|large_intestine(2)|ovary(2)|skin(1)	11						tgttggaaacatatagtagcta	0.312																																					p.398_398del		.											.	FAM200A-90	0			c.1192_1193del						.																																			SO:0001589	frameshift_variant	221786	exon2			GGAAACATATAGT		CCDS5668.1	7q22.1	2010-02-22	2010-02-22	2010-02-22	ENSG00000221909	ENSG00000221909			25401	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 38"""	C7orf38		10607616	Standard	NM_145111		Approved	FLJ36794, DKFZp727G131	uc003ura.3	Q8TCP9	OTTHUMG00000156723	ENST00000449309.1:c.1192_1193delAT	7.37:g.99144840_99144841delAT	ENSP00000411372:p.Met398fs	70	0		108	39	NM_145111	0	0	0	0	0	A4D293|A8K3V9|B2RD92|C9J6A8|D6W5T2|Q8N9P3	Frame_Shift_Del	DEL	ENST00000449309.1	37	CCDS5668.1																																																																																			.		0.312	FAM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345467.1	NM_145111	
TRIM4	89122	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	99507254	99507254	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:99507254G>A	ENST00000355947.2	-	3	630	c.501C>T	c.(499-501)ctC>ctT	p.L167L	TRIM4_ENST00000354241.5_Silent_p.L141L|TRIM4_ENST00000349062.2_Silent_p.L141L	NM_033017.3	NP_148977.2	Q9C037	TRIM4_HUMAN	tripartite motif containing 4	167					protein trimerization (GO:0070206)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)				TCTTGGCCACGAGATTACGCT	0.418																																					p.L167L		.											.	TRIM4-227	0			c.C501T						.						199.0	160.0	173.0					7																	99507254		2203	4300	6503	SO:0001819	synonymous_variant	89122	exon3			GGCCACGAGATTA	AF220023	CCDS5678.1, CCDS5679.1	7q22-q31.1	2013-01-09	2011-01-25		ENSG00000146833	ENSG00000146833		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16275	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM4"", ""tripartite motif protein 4"""		"""tripartite motif-containing 4"""			11331580	Standard	NM_033017		Approved	RNF87	uc003use.3	Q9C037	OTTHUMG00000156648	ENST00000355947.2:c.501C>T	7.37:g.99507254G>A		140	0		182	76	NM_033017	0	0	22	50	28	A4D298|Q75MK1|Q96F06|Q9C036	Silent	SNP	ENST00000355947.2	37	CCDS5679.1	.	.	.	.	.	.	.	.	.	.	G	1.980	-0.434470	0.04669	.	.	ENSG00000146833	ENST00000447480	.	.	.	2.55	-3.23	0.05109	.	.	.	.	.	T	0.17023	0.0409	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.23368	-1.0190	4	.	.	.	.	0.056	0.00013	0.319:0.2289:0.1826:0.2695	.	.	.	.	C	43	.	.	R	-	1	0	TRIM4	99345190	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.354000	0.02614	-0.952000	0.03649	-0.252000	0.11476	CGT	.		0.418	TRIM4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345050.1	NM_033017	
COPS6	10980	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	99688715	99688715	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:99688715C>T	ENST00000303904.3	+	7	626	c.589C>T	c.(589-591)Cgc>Tgc	p.R197C	COPS6_ENST00000418625.1_Missense_Mutation_p.R196C|MIR25_ENST00000384816.1_RNA|MIR93_ENST00000385024.1_RNA|MIR106B_ENST00000385301.1_RNA	NM_006833.4	NP_006824.2	Q7L5N1	CSN6_HUMAN	COP9 signalosome subunit 6	197					cullin deneddylation (GO:0010388)|viral process (GO:0016032)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|stomach(1)	12	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			GGAAGCGGAACGCATTGGTGT	0.532																																					p.R197C		.											.	COPS6-658	0			c.C589T						.						141.0	117.0	125.0					7																	99688715		2203	4300	6503	SO:0001583	missense	10980	exon7			GCGGAACGCATTG	BC002520	CCDS5682.1	7q22.1	2013-03-14	2013-03-14		ENSG00000168090	ENSG00000168090			21749	protein-coding gene	gene with protein product	"""COP9 subunit 6 (MOV34 homolog, 34 kD)"""	614729	"""COP9 constitutive photomorphogenic homolog subunit 6 (Arabidopsis)"""			12477932	Standard	NM_006833		Approved	MOV34-34KD, CSN6	uc003usu.3	Q7L5N1	OTTHUMG00000154632	ENST00000303904.3:c.589C>T	7.37:g.99688715C>T	ENSP00000304102:p.Arg197Cys	105	0		146	14	NM_006833	0	0	231	248	17	A4D2A3|O15387	Missense_Mutation	SNP	ENST00000303904.3	37	CCDS5682.1	.	.	.	.	.	.	.	.	.	.	C	11.26	1.587654	0.28268	.	.	ENSG00000168090	ENST00000303904;ENST00000418625	T;T	0.52983	0.64;0.64	4.79	3.9	0.45041	.	0.000000	0.85682	D	0.000000	T	0.71753	0.3377	M	0.93016	3.37	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75139	-0.3423	10	0.72032	D	0.01	-19.8437	7.9798	0.30177	0.1831:0.64:0.1769:0.0	.	197	Q7L5N1	CSN6_HUMAN	C	197;196	ENSP00000304102:R197C;ENSP00000400617:R196C	ENSP00000304102:R197C	R	+	1	0	COPS6	99526651	1.000000	0.71417	0.998000	0.56505	0.011000	0.07611	1.611000	0.36879	1.222000	0.43521	-0.175000	0.13238	CGC	.		0.532	COPS6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336412.3	NM_006833	
EPHB4	2050	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	100417182	100417182	+	Nonsense_Mutation	SNP	C	C	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:100417182C>A	ENST00000358173.3	-	6	1762	c.1294G>T	c.(1294-1296)Gag>Tag	p.E432*	EPHB4_ENST00000360620.3_Nonsense_Mutation_p.E432*|RN7SL750P_ENST00000582814.1_RNA|EPHB4_ENST00000477446.1_5'UTR	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	432	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					GTCTCACCCTCTCGGTCAGTG	0.607																																					p.E432X	GBM(200;2113 3072 25865 52728)	.											.	EPHB4-1446	0			c.G1294T						.						73.0	75.0	74.0					7																	100417182		2203	4300	6503	SO:0001587	stop_gained	2050	exon6			CACCCTCTCGGTC	AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3395	protein-coding gene	gene with protein product		600011	"""EphB4"""	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.1294G>T	7.37:g.100417182C>A	ENSP00000350896:p.Glu432*	100	1		146	55	NM_004444	0	0	0	0	0	B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Nonsense_Mutation	SNP	ENST00000358173.3	37	CCDS5706.1	.	.	.	.	.	.	.	.	.	.	C	41	8.832846	0.98970	.	.	ENSG00000196411	ENST00000360620;ENST00000358173	.	.	.	5.46	4.56	0.56223	.	0.122077	0.36234	N	0.002702	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	13.7816	0.63085	0.0:0.8447:0.1553:0.0	.	.	.	.	X	432	.	ENSP00000350896:E432X	E	-	1	0	EPHB4	100255118	0.831000	0.29352	0.913000	0.36048	0.526000	0.34562	4.825000	0.62708	1.262000	0.44165	0.655000	0.94253	GAG	.		0.607	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347222.1	NM_004444	
ACHE	43	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	7	100490017	100490017	+	Silent	SNP	C	C	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:100490017C>A	ENST00000412389.1	-	2	1646	c.1491G>T	c.(1489-1491)acG>acT	p.T497T	ACHE_ENST00000428317.1_Silent_p.T497T|ACHE_ENST00000241069.5_Silent_p.T497T|UFSP1_ENST00000388761.2_5'Flank|ACHE_ENST00000302913.4_Silent_p.T497T|ACHE_ENST00000419336.2_Silent_p.T409T|ACHE_ENST00000411582.1_Silent_p.T497T			P22303	ACES_HUMAN	acetylcholinesterase (Yt blood group)	497					acetylcholine catabolic process (GO:0006581)|acetylcholine catabolic process in synaptic cleft (GO:0001507)|amyloid precursor protein metabolic process (GO:0042982)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|choline metabolic process (GO:0019695)|DNA replication (GO:0006260)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|negative regulation of synaptic transmission, cholinergic (GO:0032223)|nervous system development (GO:0007399)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter receptor biosynthetic process (GO:0045212)|osteoblast development (GO:0002076)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of protein secretion (GO:0050714)|protein tetramerization (GO:0051262)|receptor internalization (GO:0031623)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of receptor recycling (GO:0001919)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	acetylcholine binding (GO:0042166)|acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|cholinesterase activity (GO:0004104)|collagen binding (GO:0005518)|hydrolase activity (GO:0016787)|laminin binding (GO:0043236)|protein homodimerization activity (GO:0042803)|serine hydrolase activity (GO:0017171)			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium(DB00944)|Dipivefrin(DB00449)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Minaprine(DB00805)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pralidoxime(DB00733)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tubocurarine(DB01199)	TCTCCTCTGCCGTGTAGTTTC	0.612																																					p.T497T		.											.	ACHE-92	0			c.G1491T						.						50.0	49.0	49.0					7																	100490017		2203	4300	6503	SO:0001819	synonymous_variant	43	exon3			CTCTGCCGTGTAG		CCDS5709.1, CCDS5710.1, CCDS64736.1	7q22	2014-07-19	2014-01-02		ENSG00000087085	ENSG00000087085	3.1.1.7	"""Blood group antigens"""	108	protein-coding gene	gene with protein product	"""Yt blood group"""	100740	"""acetylcholinesterase (YT blood group)"", ""acetylcholinesterase (Yt blood group)"", ""acetylcholinesterase"""	YT		1380483	Standard	XM_005250357		Approved		uc003uxe.3	P22303	OTTHUMG00000157033	ENST00000412389.1:c.1491G>T	7.37:g.100490017C>A		89	0		126	8	NM_000665	0	0	5	5	0	A4D2E2|B7ZKZ0|D6W5X7|Q16169|Q29S23|Q2M324|Q504V3|Q53F46|Q86TM9|Q86YX9|Q9BXP7	Silent	SNP	ENST00000412389.1	37	CCDS5709.1																																																																																			.		0.612	ACHE-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347201.1	NM_015831	
NAPEPLD	222236	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	7	102760123	102760123	+	Frame_Shift_Del	DEL	A	A	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:102760123delA	ENST00000417955.1	-	3	996	c.842delT	c.(841-843)ttcfs	p.F281fs	NAPEPLD_ENST00000341533.4_Frame_Shift_Del_p.F281fs|NAPEPLD_ENST00000427257.1_Frame_Shift_Del_p.F281fs|NAPEPLD_ENST00000465647.1_Frame_Shift_Del_p.F281fs|NAPEPLD_ENST00000455523.2_Frame_Shift_Del_p.F354fs			Q6IQ20	NAPEP_HUMAN	N-acyl phosphatidylethanolamine phospholipase D	281				Missing (in Ref. 3; CAI56779). {ECO:0000305}.	phospholipid catabolic process (GO:0009395)	extracellular vesicular exosome (GO:0070062)|photoreceptor outer segment membrane (GO:0042622)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|zinc ion binding (GO:0008270)	p.F281fs*14(1)		endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						ATCTCCTGCGAAAAAAAATCG	0.463																																					p.F281fs		.											.	NAPEPLD-227	1	Deletion - Frameshift(1)	ovary(1)	c.842delT						.						83.0	79.0	80.0					7																	102760123		2203	4300	6503	SO:0001589	frameshift_variant	222236	exon3			CCTGCGAAAAAAA	BC037350, AY357337	CCDS5729.1	7q22.1	2014-03-14			ENSG00000161048	ENSG00000161048	3.1.4.54		21683	protein-coding gene	gene with protein product	"""chromosome 7 open reading frame 18, N-acyl-phosphatidylethanolamine-hydrolyzing phospholipase D"""	612334				14634025, 15820312, 18067139	Standard	NM_198990		Approved	FMP30, C7orf18, NAPE-PLD	uc003vbd.2	Q6IQ20	OTTHUMG00000157204	ENST00000417955.1:c.842delT	7.37:g.102760123delA	ENSP00000407112:p.Phe281fs	38	0		57	31	NM_001122838	0	0	0	0	0	Q5CZ87|Q769K1	Frame_Shift_Del	DEL	ENST00000417955.1	37	CCDS5729.1																																																																																			.		0.463	NAPEPLD-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347904.1	NM_198990	
RELN	5649	bcgsc.ca	37	7	103230147	103230147	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:103230147G>A	ENST00000428762.1	-	28	4200	c.4041C>T	c.(4039-4041)tgC>tgT	p.C1347C	RELN_ENST00000424685.2_Silent_p.C1347C|RELN_ENST00000343529.5_Silent_p.C1347C	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1347					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.C1347C(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AGTTTCCTTCGCATCCTTTGC	0.473																																					p.C1347C	NSCLC(146;835 1944 15585 22231 52158)	.											.	RELN-574	1	Substitution - coding silent(1)	large_intestine(1)	c.C4041T						.						197.0	175.0	183.0					7																	103230147		2203	4300	6503	SO:0001819	synonymous_variant	5649	exon28			TCCTTCGCATCCT		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.4041C>T	7.37:g.103230147G>A		134	3		154	64	NM_173054	0	0	0	0	0	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	ENST00000428762.1	37	CCDS47680.1																																																																																			.		0.473	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045	
ATXN7L1	222255	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	105255170	105255170	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:105255170G>A	ENST00000419735.3	-	10	1656	c.1611C>T	c.(1609-1611)aaC>aaT	p.N537N	ATXN7L1_ENST00000388807.4_Silent_p.N197N|ATXN7L1_ENST00000477775.1_Silent_p.N413N	NM_020725.1	NP_065776.1	Q9ULK2	AT7L1_HUMAN	ataxin 7-like 1	537	Ser-rich.									endometrium(1)|large_intestine(4)|lung(5)	10						CAGCACTGGGGTTGCTGAAAG	0.552																																					p.N537N		.											.	ATXN7L1-90	0			c.C1611T						.						78.0	67.0	70.0					7																	105255170		692	1591	2283	SO:0001819	synonymous_variant	222255	exon10			ACTGGGGTTGCTG	AB033044	CCDS34727.1, CCDS47682.1, CCDS47683.1	7q22.1	2007-11-13			ENSG00000146776	ENSG00000146776			22210	protein-coding gene	gene with protein product			"""ataxin 7-like 4"""	ATXN7L4		15115762	Standard	NM_152749		Approved	KIAA1218, MGC33190	uc003vde.2	Q9ULK2	OTTHUMG00000157521	ENST00000419735.3:c.1611C>T	7.37:g.105255170G>A		117	0		136	53	NM_020725	0	0	0	2	2	A4D0Q2|B4DTS1|Q8N2T0	Silent	SNP	ENST00000419735.3	37	CCDS47682.1																																																																																			.		0.552	ATXN7L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349037.2		
PIK3CG	5294	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	106508801	106508801	+	Silent	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:106508801A>G	ENST00000359195.3	+	2	1105	c.795A>G	c.(793-795)caA>caG	p.Q265Q	PIK3CG_ENST00000496166.1_Silent_p.Q265Q|PIK3CG_ENST00000440650.2_Silent_p.Q265Q	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	265	PI3K-RBD. {ECO:0000255|PROSITE- ProRule:PRU00879}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CCGAAAGCCAAAGCGAACAGG	0.552																																					p.Q265Q		.											.	PIK3CG-1316	0			c.A795G						.						62.0	61.0	61.0					7																	106508801		2203	4300	6503	SO:0001819	synonymous_variant	5294	exon2			AAGCCAAAGCGAA		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.795A>G	7.37:g.106508801A>G		77	0		86	35	NM_002649	0	0	1	1	0	A4D0Q6|Q8IV23|Q9BZC8	Silent	SNP	ENST00000359195.3	37	CCDS5739.1																																																																																			.		0.552	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1		
COG5	10466	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	106844034	106844034	+	Missense_Mutation	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:106844034T>C	ENST00000347053.3	-	21	2497	c.2447A>G	c.(2446-2448)gAa>gGa	p.E816G	COG5_ENST00000297135.3_Missense_Mutation_p.E837G	NM_181733.2	NP_859422.2	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	816					intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						TTCTTTGCCTTCTCTACTTCT	0.368																																					p.E837G		.											.	COG5-93	0			c.A2510G						.						146.0	134.0	138.0					7																	106844034		2203	4300	6503	SO:0001583	missense	10466	exon22			TTGCCTTCTCTAC	AF058718	CCDS5742.1, CCDS5743.1, CCDS55152.1	7q31	2010-06-24	2001-12-07	2002-05-10	ENSG00000164597	ENSG00000164597		"""Components of oligomeric golgi complex"""	14857	protein-coding gene	gene with protein product		606821	"""golgi transport complex 1 (90 kDa subunit)"""	GOLTC1		9792665, 11980916	Standard	NM_006348		Approved	GTC90	uc003vec.2	Q9UP83	OTTHUMG00000023895	ENST00000347053.3:c.2447A>G	7.37:g.106844034T>C	ENSP00000334703:p.Glu816Gly	75	0		80	32	NM_006348	0	0	22	44	22	A4D0R6|A4D0R7|O14555|O95008|Q6NUL5	Missense_Mutation	SNP	ENST00000347053.3	37	CCDS5743.1	.	.	.	.	.	.	.	.	.	.	T	14.23	2.472580	0.43942	.	.	ENSG00000164597	ENST00000347053;ENST00000297135	T;T	0.16743	2.36;2.32	6.03	4.87	0.63330	.	0.160010	0.56097	D	0.000027	T	0.06280	0.0162	N	0.01576	-0.805	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.28839	-1.0031	10	0.16420	T	0.52	-10.9008	11.9745	0.53083	0.0:0.0673:0.0:0.9327	.	816;837	Q9UP83;Q9UP83-2	COG5_HUMAN;.	G	816;837	ENSP00000334703:E816G;ENSP00000297135:E837G	ENSP00000297135:E837G	E	-	2	0	COG5	106631270	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.277000	0.58939	1.097000	0.41459	0.533000	0.62120	GAA	.		0.368	COG5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060216.4		
DUS4L	11062	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	107217974	107217974	+	Missense_Mutation	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:107217974T>C	ENST00000265720.3	+	8	1285	c.923T>C	c.(922-924)aTa>aCa	p.I308T	BCAP29_ENST00000379117.2_5'Flank|BCAP29_ENST00000465919.1_5'Flank|BCAP29_ENST00000445771.2_5'Flank|RP4-593H12.1_ENST00000610269.1_RNA|BCAP29_ENST00000005259.4_5'Flank|DUS4L_ENST00000402620.1_Missense_Mutation_p.I187T	NM_001270419.1|NM_181581.2	NP_001257348.1|NP_853559.1	O95620	DUS4L_HUMAN	dihydrouridine synthase 4-like (S. cerevisiae)	308							flavin adenine dinucleotide binding (GO:0050660)|tRNA dihydrouridine synthase activity (GO:0017150)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8						TCAGCAATCATAGATTACCTT	0.338																																					p.I308T		.											.	DUS4L-90	0			c.T923C						.						120.0	124.0	122.0					7																	107217974		2203	4300	6503	SO:0001583	missense	11062	exon8			CAATCATAGATTA	U62767	CCDS5745.1	7q22-q31	2007-12-04			ENSG00000105865	ENSG00000105865			21517	protein-coding gene	gene with protein product	"""protein similar to E.coli yhdg and R. capsulatus nifR3"""						Standard	NM_181581		Approved	PP35, DUS4	uc031syv.1	O95620	OTTHUMG00000154763	ENST00000265720.3:c.923T>C	7.37:g.107217974T>C	ENSP00000265720:p.Ile308Thr	125	0		116	47	NM_001270419	0	0	3	6	3	B4DLX0|Q2NKK1	Missense_Mutation	SNP	ENST00000265720.3	37	CCDS5745.1	.	.	.	.	.	.	.	.	.	.	T	16.74	3.206064	0.58234	.	.	ENSG00000105865	ENST00000265720;ENST00000402620	T;T	0.22539	1.95;1.95	5.67	5.67	0.87782	.	0.127880	0.51477	D	0.000096	T	0.30448	0.0765	M	0.66939	2.045	0.39408	D	0.966692	B;B	0.17038	0.02;0.02	B;B	0.30495	0.116;0.116	T	0.08638	-1.0712	10	0.49607	T	0.09	.	16.215	0.82206	0.0:0.0:0.0:1.0	.	308;308	A4D0R5;O95620	.;DUS4L_HUMAN	T	308;187	ENSP00000265720:I308T;ENSP00000385274:I187T	ENSP00000265720:I308T	I	+	2	0	DUS4L	107005210	1.000000	0.71417	0.951000	0.38953	0.849000	0.48306	5.794000	0.69067	2.288000	0.76882	0.533000	0.62120	ATA	.		0.338	DUS4L-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336967.2	NM_181581	
LAMB4	22798	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	107696427	107696427	+	Silent	SNP	G	G	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:107696427G>T	ENST00000388781.3	-	25	3488	c.3405C>A	c.(3403-3405)acC>acA	p.T1135T	LAMB4_ENST00000388780.3_Silent_p.T1135T|LAMB4_ENST00000205386.4_Silent_p.T1135T	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1135	Laminin EGF-like 13. {ECO:0000255|PROSITE-ProRule:PRU00460}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TGGGCTTCTGGGTACCTGCCC	0.527																																					p.T1135T		.											.	LAMB4-140	0			c.C3405A						.						40.0	40.0	40.0					7																	107696427		2203	4300	6503	SO:0001819	synonymous_variant	22798	exon25			CTTCTGGGTACCT	AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"""Laminins"""	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.3405C>A	7.37:g.107696427G>T		68	0		91	45	NM_007356	0	0	0	0	0	A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Silent	SNP	ENST00000388781.3	37	CCDS34732.1																																																																																			.		0.527	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857	
PNPLA8	50640	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	108112846	108112846	+	Silent	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:108112846C>T	ENST00000422087.1	-	12	2754	c.2348G>A	c.(2347-2349)tGa>tAa	p.*783*	PNPLA8_ENST00000453144.1_Silent_p.*683*|PNPLA8_ENST00000426128.2_Silent_p.*721*|PNPLA8_ENST00000257694.8_Silent_p.*783*|PNPLA8_ENST00000388728.5_Silent_p.*721*|PNPLA8_ENST00000436062.1_Silent_p.*783*	NM_015723.3	NP_056538.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	0					arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|cell death (GO:0008219)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|linoleic acid metabolic process (GO:0043651)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylcholine catabolic process (GO:0034638)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylethanolamine catabolic process (GO:0046338)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)			breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						ATATACTCATCACAATTTTGA	0.289																																					p.X783X		.											.	PNPLA8-135	0			c.G2348A						.						49.0	53.0	52.0					7																	108112846		2202	4299	6501	SO:0001819	synonymous_variant	50640	exon10			ACTCATCACAATT	AF217519	CCDS34733.1, CCDS59075.1, CCDS59508.1	7q31	2012-07-31			ENSG00000135241	ENSG00000135241		"""Patatin-like phospholipase domain containing"""	28900	protein-coding gene	gene with protein product		612123				10744668, 10833412, 16799181, 19029121	Standard	NM_015723		Approved	IPLA2G, IPLA2-2, iPLA2gamma	uc003vfj.2	Q9NP80	OTTHUMG00000154870	ENST00000422087.1:c.2348G>A	7.37:g.108112846C>T		210	0		259	94	NM_001256008	0	0	30	62	32	A4D0S1|C9JZI4|O95035|Q8N3I3|Q9H7T5|Q9NR17|Q9NUN2|Q9NZ79	Silent	SNP	ENST00000422087.1	37	CCDS34733.1																																																																																			.		0.289	PNPLA8-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337475.1	NM_015723	
LRRN3	54674	broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	110764462	110764462	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:110764462C>T	ENST00000422987.3	+	2	2465	c.1634C>T	c.(1633-1635)tCt>tTt	p.S545F	IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000450877.1_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.S545F|IMMP2L_ENST00000452895.1_Intron|LRRN3_ENST00000451085.1_Missense_Mutation_p.S545F|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000437687.1_Intron	NM_018334.4	NP_060804.3	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	545	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				positive regulation of protein phosphorylation (GO:0001934)	clathrin adaptor complex (GO:0030131)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		AAAGCAAGTTCTAAAATTCTC	0.363																																					p.S545F		.											.	LRRN3-154	0			c.C1634T						.						61.0	62.0	62.0					7																	110764462		2203	4300	6503	SO:0001583	missense	54674	exon2			CAAGTTCTAAAAT	AB060967	CCDS5754.1	7q31.1	2013-02-11			ENSG00000173114	ENSG00000173114		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17200	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 5"""					11549284	Standard	NM_001099660		Approved	NLRR3, FLJ11129, FIGLER5	uc003vfs.4	Q9H3W5	OTTHUMG00000155039	ENST00000422987.3:c.1634C>T	7.37:g.110764462C>T	ENSP00000412417:p.Ser545Phe	51	1		66	37	NM_018334	0	0	0	0	0	O43377|Q6I9V8|Q8IYQ6	Missense_Mutation	SNP	ENST00000422987.3	37	CCDS5754.1	.	.	.	.	.	.	.	.	.	.	C	15.13	2.741698	0.49151	.	.	ENSG00000173114	ENST00000308478;ENST00000451085;ENST00000422987	T;T;T	0.59638	0.25;0.25;0.25	6.17	6.17	0.99709	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000010	T	0.73305	0.3570	L	0.58101	1.795	0.44711	D	0.997703	D	0.60575	0.988	P	0.62298	0.9	T	0.71882	-0.4458	10	0.62326	D	0.03	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	545	Q9H3W5	LRRN3_HUMAN	F	545	ENSP00000312001:S545F;ENSP00000397312:S545F;ENSP00000412417:S545F	ENSP00000312001:S545F	S	+	2	0	LRRN3	110551698	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.526000	0.60566	2.941000	0.99782	0.655000	0.94253	TCT	.		0.363	LRRN3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338171.2	NM_018334	
DOCK4	9732	ucsc.edu;bcgsc.ca	37	7	111428773	111428773	+	Missense_Mutation	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:111428773T>C	ENST00000437633.1	-	32	3602	c.3346A>G	c.(3346-3348)Agc>Ggc	p.S1116G	DOCK4_ENST00000428084.1_Missense_Mutation_p.S1116G	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1116					cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				GACATCAGGCTATCCAGTTTG	0.413																																					p.S1116G		.											.	DOCK4-26	0			c.A3346G						.						121.0	118.0	119.0					7																	111428773		1915	4114	6029	SO:0001583	missense	9732	exon32			TCAGGCTATCCAG		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.3346A>G	7.37:g.111428773T>C	ENSP00000404179:p.Ser1116Gly	162	2		207	108	NM_014705	0	0	3	3	0	O14584|O94824|Q8NB45	Missense_Mutation	SNP	ENST00000437633.1	37	CCDS47688.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.09|15.09	2.729314|2.729314	0.48833|0.48833	.|.	.|.	ENSG00000128512|ENSG00000128512	ENST00000423057;ENST00000445943|ENST00000352877;ENST00000428084;ENST00000437633;ENST00000342288;ENST00000417165	.|T;T;T	.|0.52983	.|1.96;1.96;0.64	5.45|5.45	5.45|5.45	0.79879|0.79879	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.43211|0.43211	0.1237|0.1237	L|L	0.47016|0.47016	1.485|1.485	0.80722|0.80722	D|D	1|1	.|B;B;B;B	.|0.16166	.|0.004;0.009;0.004;0.016	.|B;B;B;B	.|0.20384	.|0.005;0.013;0.008;0.029	T|T	0.24799|0.24799	-1.0150|-1.0150	5|10	.|0.26408	.|T	.|0.33	.|.	15.6711|15.6711	0.77274|0.77274	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|14;1152;1116;1116	.|B7Z2K9;Q149N5;Q8N1I0;Q8N1I0-2	.|.;.;DOCK4_HUMAN;.	M|G	567;1139|1104;1116;1116;1104;14	.|ENSP00000410746:S1116G;ENSP00000404179:S1116G;ENSP00000403504:S14G	.|ENSP00000345432:S1104G	I|S	-|-	3|1	3|0	DOCK4|DOCK4	111216009|111216009	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.868000|7.868000	0.87116|0.87116	2.285000|2.285000	0.76669|0.76669	0.477000|0.477000	0.44152|0.44152	ATA|AGC	.		0.413	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705	
MDFIC	29969	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	114655908	114655908	+	Silent	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:114655908T>C	ENST00000393486.1	+	5	1250	c.660T>C	c.(658-660)tgT>tgC	p.C220C	MDFIC_ENST00000257724.3_Silent_p.C329C	NM_001166345.1|NM_199072.4	NP_001159817.1|NP_951038.1			MyoD family inhibitor domain containing											breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	8						ATATGGACTGTGGCATCATGG	0.448																																					p.C329C		.											.	MDFIC-91	0			c.T987C						.						305.0	270.0	282.0					7																	114655908		2203	4300	6503	SO:0001819	synonymous_variant	29969	exon5			GGACTGTGGCATC	AF054589	CCDS34737.1, CCDS55155.1	7q31.1-q31.2	2006-01-11			ENSG00000135272	ENSG00000135272			28870	protein-coding gene	gene with protein product		614511				10671520	Standard	NM_199072		Approved	HIC	uc003vhf.3	Q9P1T7	OTTHUMG00000023647	ENST00000393486.1:c.660T>C	7.37:g.114655908T>C		89	0		113	45	NM_199072	0	0	3	10	7		Silent	SNP	ENST00000393486.1	37	CCDS55155.1																																																																																			.		0.448	MDFIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059968.4	NM_199072	
ASZ1	136991	broad.mit.edu;bcgsc.ca	37	7	117062381	117062381	+	Missense_Mutation	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:117062381A>G	ENST00000284629.2	-	3	300	c.238T>C	c.(238-240)Tgg>Cgg	p.W80R		NM_130768.2	NP_570124.1			ankyrin repeat, SAM and basic leucine zipper domain containing 1											breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			AGGGGAGTCCATCCATACTGA	0.408																																					p.W80R		.											.	ASZ1-515	0			c.T238C						.						119.0	109.0	112.0					7																	117062381		2203	4300	6503	SO:0001583	missense	136991	exon3			GAGTCCATCCATA	AF461259	CCDS5772.1	7q31.2	2013-01-10	2005-03-15	2004-07-16	ENSG00000154438	ENSG00000154438		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	1350	protein-coding gene	gene with protein product		605797	"""ankyrin-like 1"""	C7orf7, ANKL1		12040005, 11279520	Standard	NM_130768		Approved	Orf3, GASZ, ALP1, CT1.19	uc003vjb.2	Q8WWH4	OTTHUMG00000064565	ENST00000284629.2:c.238T>C	7.37:g.117062381A>G	ENSP00000284629:p.Trp80Arg	77	2		74	36	NM_130768	0	0	0	0	0		Missense_Mutation	SNP	ENST00000284629.2	37	CCDS5772.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.068630	0.76301	.	.	ENSG00000154438	ENST00000284629;ENST00000428663	T;T	0.62364	0.03;0.03	5.64	5.64	0.86602	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.67439	0.2893	N	0.17723	0.515	0.58432	D	0.999991	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.72391	-0.4308	10	0.72032	D	0.01	-1.2018	14.8405	0.70220	1.0:0.0:0.0:0.0	.	80;80	B7ZM20;Q8WWH4	.;ASZ1_HUMAN	R	80;27	ENSP00000284629:W80R;ENSP00000402919:W27R	ENSP00000284629:W80R	W	-	1	0	ASZ1	116849617	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	7.398000	0.79919	2.131000	0.65755	0.460000	0.39030	TGG	.		0.408	ASZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000138907.7	NM_130768	
PTPRZ1	5803	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	121608015	121608015	+	Missense_Mutation	SNP	T	T	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:121608015T>A	ENST00000393386.2	+	3	546	c.135T>A	c.(133-135)aaT>aaA	p.N45K	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.N45K	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	45	Alpha-carbonic anhydrase.				axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						GAGCACTGAATCAAAAAAATT	0.274																																					p.N45K		.											.	PTPRZ1-699	0			c.T135A						.						47.0	50.0	49.0					7																	121608015		2203	4296	6499	SO:0001583	missense	5803	exon3			ACTGAATCAAAAA	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.135T>A	7.37:g.121608015T>A	ENSP00000377047:p.Asn45Lys	104	0		130	58	NM_001206838	0	0	0	0	0	A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	T	17.47	3.398263	0.62177	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.53423	0.62;0.62	5.53	3.13	0.36017	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.070766	0.56097	D	0.000021	T	0.67287	0.2877	M	0.85373	2.75	0.31245	N	0.694727	D;D	0.89917	0.994;1.0	D;D	0.97110	0.948;1.0	T	0.70439	-0.4871	10	0.72032	D	0.01	.	8.0679	0.30672	0.0:0.2848:0.0:0.7152	.	45;45	C9JFM0;P23471	.;PTPRZ_HUMAN	K	45	ENSP00000377047:N45K;ENSP00000410000:N45K	ENSP00000377047:N45K	N	+	3	2	PTPRZ1	121395251	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	1.731000	0.38135	1.038000	0.40049	-0.263000	0.10527	AAT	.		0.274	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851	
GPR37	2861	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	124404170	124404170	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:124404170G>A	ENST00000303921.2	-	1	1511	c.861C>T	c.(859-861)tgC>tgT	p.C287C		NM_005302.3	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	287					dopamine biosynthetic process (GO:0042416)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotion involved in locomotory behavior (GO:0031987)|positive regulation of dopamine metabolic process (GO:0045964)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ubiquitin ligase complex (GO:0000151)	G-protein coupled receptor activity (GO:0004930)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						AGTAGTTGTGGCACACGATGC	0.562																																					p.C287C		.											.	GPR37-523	0			c.C861T						.						109.0	111.0	110.0					7																	124404170		2203	4300	6503	SO:0001819	synonymous_variant	2861	exon1			GTTGTGGCACACG		CCDS5792.1	7q31	2012-08-21			ENSG00000170775	ENSG00000170775		"""GPCR / Class A : Orphans"""	4494	protein-coding gene	gene with protein product		602583				9339362	Standard	NM_005302		Approved	EDNRBL, hET(B)R-LP, PAELR	uc003vli.4	O15354	OTTHUMG00000157197	ENST00000303921.2:c.861C>T	7.37:g.124404170G>A		127	0		162	58	NM_005302	0	0	0	0	0	A4D0Y6|O00348|O14768|Q8TD39	Silent	SNP	ENST00000303921.2	37	CCDS5792.1																																																																																			.		0.562	GPR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347873.1	NM_005302	
GRM8	2918	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	126086177	126086177	+	Intron	SNP	T	T	C	rs375571552		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:126086177T>C	ENST00000339582.2	-	10	3486				GRM8_ENST00000444921.2_Intron|GRM8_ENST00000358373.3_Missense_Mutation_p.K894E			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8						adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				ACAGATGACTTACTGTTGGTT	0.443										HNSCC(24;0.065)																											p.K894E		.											.	GRM8-581	0			c.A2680G						.	T	,GLU/LYS	0,4406		0,0,2203	195.0	180.0	185.0		,2680	5.8	1.0	7		185	1,8599	1.2+/-3.3	0,1,4299	no	intron,missense	GRM8	NM_000845.2,NM_001127323.1	,56	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	,	,894/909	126086177	1,13005	2203	4300	6503	SO:0001627	intron_variant	2918	exon10			ATGACTTACTGTT		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.2677+2A>G	7.37:g.126086177T>C		117	0		150	71	NM_001127323	0	0	0	0	0	A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	T	6.862	0.528372	0.13127	0.0	1.16E-4	ENSG00000179603	ENST00000358373	D	0.88201	-2.35	5.83	5.83	0.93111	.	.	.	.	.	T	0.79986	0.4541	N	0.19112	0.55	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.74518	-0.3639	9	0.07482	T	0.82	.	15.3883	0.74723	0.0:0.0:0.0:1.0	.	894	O00222-2	.	E	894	ENSP00000351142:K894E	ENSP00000351142:K894E	K	-	1	0	GRM8	125873413	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.002000	0.63952	2.240000	0.73641	0.477000	0.44152	AAG	.		0.443	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4		
IMPDH1	3614	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	128038611	128038611	+	Missense_Mutation	SNP	C	C	T	rs121912550		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:128038611C>T	ENST00000480861.1	-	7	738	c.661G>A	c.(661-663)Gac>Aac	p.D221N	IMPDH1_ENST00000354269.5_Missense_Mutation_p.D301N|IMPDH1_ENST00000343214.4_Missense_Mutation_p.D201N|IMPDH1_ENST00000496200.1_Missense_Mutation_p.D201N|IMPDH1_ENST00000338791.6_Missense_Mutation_p.D311N|IMPDH1_ENST00000470772.1_Missense_Mutation_p.D225N|IMPDH1_ENST00000378717.4_Missense_Mutation_p.D242N|IMPDH1_ENST00000348127.6_Missense_Mutation_p.D275N|IMPDH1_ENST00000419067.2_Missense_Mutation_p.D278N	NM_001142574.1	NP_001136046.1			IMP (inosine 5'-monophosphate) dehydrogenase 1											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22						TTCTTCAGGTCGGTGCGGGCG	0.577											OREG0018292	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.D311N		.											.	IMPDH1-230	0			c.G931A	GRCh37	CM020283	IMPDH1	M	rs121912550	.						79.0	83.0	81.0					7																	128038611		2203	4300	6503	SO:0001583	missense	3614	exon10			TCAGGTCGGTGCG		CCDS34748.1, CCDS34749.1, CCDS43643.1, CCDS47699.1, CCDS47700.1, CCDS55161.1	7q31.3-q32	2013-01-08	2010-04-29		ENSG00000106348	ENSG00000106348	1.1.1.205		6052	protein-coding gene	gene with protein product		146690	"""retinitis pigmentosa 10 (autosomal dominant)"", ""IMP (inosine monophosphate) dehydrogenase 1"""	RP10		1969416, 11875049, 11875050	Standard	NM_000883		Approved	sWSS2608, LCA11	uc003vmu.2	P20839	OTTHUMG00000157713	ENST00000480861.1:c.661G>A	7.37:g.128038611C>T	ENSP00000420185:p.Asp221Asn	91	0	1561	118	54	NM_000883	0	0	9	15	6		Missense_Mutation	SNP	ENST00000480861.1	37	CCDS55161.1	.	.	.	.	.	.	.	.	.	.	C	34	5.385780	0.95967	.	.	ENSG00000106348	ENST00000419067;ENST00000338791;ENST00000496200;ENST00000354269;ENST00000378717;ENST00000348127;ENST00000343214;ENST00000470772;ENST00000480861;ENST00000497868	D;D;D;D;D;D;D;D;D;D	0.97665	-4.48;-4.48;-4.48;-4.48;-4.48;-4.48;-4.48;-4.48;-4.48;-4.48	5.29	5.29	0.74685	Aldolase-type TIM barrel (1);Cystathionine beta-synthase, core (3);IMP dehydrogenase/GMP reductase (1);	0.000000	0.85682	D	0.000000	D	0.98083	0.9368	M	0.91872	3.25	0.80722	A	1	P;P;P;P;P;P;D;P	0.56746	0.734;0.812;0.641;0.819;0.938;0.91;0.977;0.776	B;P;B;P;P;B;B;B	0.51297	0.415;0.54;0.327;0.573;0.665;0.409;0.44;0.405	D	0.99029	1.0820	9	0.72032	D	0.01	-33.4691	16.4619	0.84059	0.0:1.0:0.0:0.0	.	278;221;226;242;301;275;311;201	C9JV30;B4DE09;P20839;E7EQS0;Q5H9Q6;P20839-3;A4D0Z6;P20839-2	.;.;IMDH1_HUMAN;.;.;.;.;.	N	278;311;201;301;242;275;201;225;221;242	ENSP00000399400:D278N;ENSP00000345096:D311N;ENSP00000420803:D201N;ENSP00000346219:D301N;ENSP00000367989:D242N;ENSP00000265385:D275N;ENSP00000342438:D201N;ENSP00000417296:D225N;ENSP00000420185:D221N;ENSP00000419609:D242N	ENSP00000345096:D311N	D	-	1	0	IMPDH1	127825847	1.000000	0.71417	0.991000	0.47740	0.948000	0.59901	7.794000	0.85869	2.489000	0.83994	0.655000	0.94253	GAC	.		0.577	IMPDH1-009	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000349462.1	NM_000883	
KCP	375616	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	128517620	128517620	+	RNA	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:128517620G>A	ENST00000476647.2	-	0	4578							Q6ZWJ8	KCP_HUMAN	kielin/chordin-like protein							extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(3)	4						CATCACAGAGGCAGGCATCAG	0.647																																					.		.											.	KCP-68	0			.						.						94.0	117.0	110.0					7																	128517620		692	1591	2283			375616	.			ACAGAGGCAGGCA	AK122706		7q32.3	2009-11-06	2009-02-18	2009-02-18	ENSG00000135253	ENSG00000135253			17585	protein-coding gene	gene with protein product	"""kielin"""	609344	"""cysteine rich BMP regulator 2 (chordin-like)"""	CRIM2		15793581	Standard	NM_001135914		Approved	FLJ33365, NET67	uc011kor.2	Q6ZWJ8	OTTHUMG00000158363		7.37:g.128517620G>A		406	2		574	258	.	0	0	4	6	2	Q8NBE0	RNA	SNP	ENST00000476647.2	37																																																																																				.		0.647	KCP-006	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000403051.1	NM_199349	
KCP	375616	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	128518652	128518652	+	RNA	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:128518652A>G	ENST00000476647.2	-	0	4313							Q6ZWJ8	KCP_HUMAN	kielin/chordin-like protein							extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(3)	4						GGGCAGGAGCAGCCCCTCAGG	0.622																																					.		.											.	KCP-68	0			.						.						44.0	51.0	49.0					7																	128518652		692	1591	2283			375616	.			AGGAGCAGCCCCT	AK122706		7q32.3	2009-11-06	2009-02-18	2009-02-18	ENSG00000135253	ENSG00000135253			17585	protein-coding gene	gene with protein product	"""kielin"""	609344	"""cysteine rich BMP regulator 2 (chordin-like)"""	CRIM2		15793581	Standard	NM_001135914		Approved	FLJ33365, NET67	uc011kor.2	Q6ZWJ8	OTTHUMG00000158363		7.37:g.128518652A>G		84	0		109	36	.	0	0	11	14	3	Q8NBE0	RNA	SNP	ENST00000476647.2	37																																																																																				.		0.622	KCP-006	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000403051.1	NM_199349	
IRF5	3663	broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	128585921	128585921	+	Missense_Mutation	SNP	A	A	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:128585921A>T	ENST00000402030.2	+	3	290	c.218A>T	c.(217-219)aAa>aTa	p.K73I	IRF5_ENST00000249375.4_Missense_Mutation_p.K73I|IRF5_ENST00000477535.1_Missense_Mutation_p.K73I|IRF5_ENST00000473745.1_Missense_Mutation_p.K73I|IRF5_ENST00000357234.5_Missense_Mutation_p.K73I	NM_001098629.1|NM_001098630.1	NP_001092099.1|NP_001092100.1	Q13568	IRF5_HUMAN	interferon regulatory factor 5	73					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to muramyl dipeptide (GO:0032495)|response to peptidoglycan (GO:0032494)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						GAGACAGGGAAATACACCGAA	0.612																																					p.K73I		.											.	IRF5-226	0			c.A218T						.						61.0	55.0	57.0					7																	128585921		2203	4300	6503	SO:0001583	missense	3663	exon3			CAGGGAAATACAC		CCDS5808.1, CCDS43645.1, CCDS56512.1	7q32	2008-07-18			ENSG00000128604	ENSG00000128604			6120	protein-coding gene	gene with protein product		607218					Standard	XM_005250317		Approved		uc003vog.3	Q13568	OTTHUMG00000158410	ENST00000402030.2:c.218A>T	7.37:g.128585921A>T	ENSP00000385352:p.Lys73Ile	122	1		142	66	NM_001098627	0	0	0	0	0	A4D1J8|A8DUA8|A8DUA9|E7EQ16|E7EW54|Q1A7B4|Q64GA9|Q64GB1|Q64GB2|Q6RCM8|Q9BQF0	Missense_Mutation	SNP	ENST00000402030.2	37	CCDS5808.1	.	.	.	.	.	.	.	.	.	.	A	15.88	2.962217	0.53400	.	.	ENSG00000128604	ENST00000489702;ENST00000357234;ENST00000477535;ENST00000430204;ENST00000479582;ENST00000464557;ENST00000402030;ENST00000249375;ENST00000453794;ENST00000473745;ENST00000412326	D;D;D;D;D;D;D;D	0.98329	-4.87;-4.87;-4.87;-4.87;-4.87;-4.87;-4.87;-4.87	5.14	3.98	0.46160	Winged helix-turn-helix transcription repressor DNA-binding (1);Interferon regulatory factor DNA-binding domain (4);	0.000000	0.64402	D	0.000009	D	0.99017	0.9664	M	0.93241	3.395	0.58432	D	0.999991	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;0.999;1.0	D;D;D;D;D;D;D;D	0.91635	0.998;0.997;0.997;0.999;0.999;0.997;0.998;0.998	D	0.99072	1.0834	10	0.87932	D	0	-14.5995	9.0213	0.36202	0.9115:0.0:0.0885:0.0	.	73;73;73;73;73;73;73;73	B4DLN8;B7Z1M2;F5H3H8;E7EW54;E9PC81;Q1A7B4;Q13568;Q13568-2	.;.;.;.;.;.;IRF5_HUMAN;.	I	73	ENSP00000418037:K73I;ENSP00000349770:K73I;ENSP00000419950:K73I;ENSP00000417770:K73I;ENSP00000419056:K73I;ENSP00000385352:K73I;ENSP00000249375:K73I;ENSP00000419149:K73I	ENSP00000249375:K73I	K	+	2	0	IRF5	128373157	1.000000	0.71417	0.393000	0.26258	0.063000	0.16089	5.858000	0.69532	0.803000	0.34113	0.454000	0.30748	AAA	.		0.612	IRF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350934.1	NM_001098627	
LRGUK	136332	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	133842788	133842788	+	Splice_Site	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:133842788G>A	ENST00000285928.2	+	6	740	c.671G>A	c.(670-672)gGc>gAc	p.G224D		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	224						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						TGGTGTATAGGCAATGAGATA	0.353																																					p.G224D		.											.	LRGUK-227	0			c.G671A						.						107.0	96.0	99.0					7																	133842788		2203	4300	6503	SO:0001630	splice_region_variant	136332	exon6			GTATAGGCAATGA	AK057348	CCDS5830.1	7q33	2006-10-27			ENSG00000155530	ENSG00000155530			21964	protein-coding gene	gene with protein product							Standard	NM_144648		Approved	FLJ32786	uc003vrm.1	Q96M69	OTTHUMG00000155320	ENST00000285928.2:c.671-1G>A	7.37:g.133842788G>A		85	0		114	37	NM_144648	0	0	0	0	0	Q2M3I1	Missense_Mutation	SNP	ENST00000285928.2	37	CCDS5830.1	.	.	.	.	.	.	.	.	.	.	G	10.77	1.444453	0.25987	.	.	ENSG00000155530	ENST00000285928	T	0.25414	1.8	5.65	-4.52	0.03472	.	0.908439	0.09627	N	0.776709	T	0.17916	0.0430	L	0.31420	0.93	0.31297	N	0.688761	B	0.15141	0.012	B	0.13407	0.009	T	0.31696	-0.9934	9	.	.	.	.	16.3106	0.82869	0.8859:0.0:0.1141:0.0	.	224	Q96M69	LRGUK_HUMAN	D	224	ENSP00000285928:G224D	.	G	+	2	0	LRGUK	133493328	0.959000	0.32827	0.077000	0.20336	0.007000	0.05969	-0.076000	0.11412	-0.650000	0.05423	-0.262000	0.10625	GGC	.		0.353	LRGUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339442.1	NM_144648	Missense_Mutation
NUP205	23165	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	135262571	135262571	+	Nonsense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:135262571C>T	ENST00000285968.6	+	6	702	c.676C>T	c.(676-678)Cag>Tag	p.Q226*	NUP205_ENST00000440390.2_Nonsense_Mutation_p.Q20*	NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	226					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)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|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(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						GGAGTGCAGGCAGTCTCTTGC	0.403																																					p.Q226X		.											.	NUP205-207	0			c.C676T						.						78.0	76.0	76.0					7																	135262571		2203	4300	6503	SO:0001587	stop_gained	23165	exon6			TGCAGGCAGTCTC	D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"""chromosome 7 open reading frame 14"""	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.676C>T	7.37:g.135262571C>T	ENSP00000285968:p.Gln226*	57	0		108	44	NM_015135	0	0	5	5	0	A6H8X3|Q86YC1	Nonsense_Mutation	SNP	ENST00000285968.6	37	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	C	42	9.674224	0.99236	.	.	ENSG00000155561	ENST00000285968;ENST00000440390	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-21.1488	19.4875	0.95035	0.0:1.0:0.0:0.0	.	.	.	.	X	226;20	.	ENSP00000285968:Q226X	Q	+	1	0	NUP205	134913111	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.048000	0.71046	2.615000	0.88500	0.655000	0.94253	CAG	.		0.403	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1		
TBXAS1	6916	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	139655387	139655387	+	Silent	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:139655387A>G	ENST00000336425.5	+	11	1058	c.669A>G	c.(667-669)agA>agG	p.R223R	TBXAS1_ENST00000425687.1_Silent_p.R156R|TBXAS1_ENST00000411653.1_Silent_p.R223R|TBXAS1_ENST00000436047.2_Silent_p.R224R|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000416849.2_Silent_p.R270R|TBXAS1_ENST00000458722.1_Silent_p.R269R|TBXAS1_ENST00000263552.6_Silent_p.R224R|TBXAS1_ENST00000414508.2_Silent_p.R224R|TBXAS1_ENST00000448866.1_Silent_p.R223R			P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	223					arachidonic acid metabolic process (GO:0019369)|cellular chloride ion homeostasis (GO:0030644)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|positive regulation of vasoconstriction (GO:0045907)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|thromboxane-A synthase activity (GO:0004796)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)				Ridogrel(DB01207)|Sulfasalazine(DB00795)	GCATCCCCAGACCTATCCTGG	0.602																																					p.R270R		.											.	TBXAS1-155	0			c.A810G						.						63.0	70.0	67.0					7																	139655387		2203	4300	6503	SO:0001819	synonymous_variant	6916	exon8			CCCCAGACCTATC	L36085	CCDS5855.1, CCDS5856.1, CCDS55174.1, CCDS55175.1	7q34-q35	2014-09-17	2008-07-31		ENSG00000059377	ENSG00000059377	5.3.99.5	"""Cytochrome P450s"""	11609	protein-coding gene	gene with protein product	"""cytochrome P450, family 5, subfamily A, polypeptide 1"""	274180	"""thromboxane A synthase 1 (platelet, cytochrome P450, subfamily V)"""			1714723, 8964509	Standard	NM_001061		Approved	CYP5, CYP5A1, THAS, TXS, TXAS, TS	uc011kqv.2	P24557	OTTHUMG00000157302	ENST00000336425.5:c.669A>G	7.37:g.139655387A>G		43	0		75	30	NM_001166253	0	0	2	2	0	B4DJG6|E7EMU9|E7EP08|E7ESB5|O14987|Q16843|Q16844|Q8IUN1|Q96CN2|Q9GZW4|Q9HD77|Q9HD78|Q9HD79|Q9HD80|Q9HD81|Q9HD82|Q9HD83|Q9HD84	Silent	SNP	ENST00000336425.5	37																																																																																				.		0.602	TBXAS1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000348373.1		
DENND2A	27147	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	140246681	140246681	+	Missense_Mutation	SNP	A	A	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:140246681A>T	ENST00000275884.6	-	12	2513	c.2096T>A	c.(2095-2097)aTg>aAg	p.M699K	DENND2A_ENST00000492720.1_Missense_Mutation_p.M699K|DENND2A_ENST00000537639.1_Missense_Mutation_p.M699K|DENND2A_ENST00000496613.1_Missense_Mutation_p.M699K			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	699	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					GACACTTCTCATGAGTGGCTG	0.512																																					p.M699K		.											.	DENND2A-138	0			c.T2096A						.						67.0	71.0	70.0					7																	140246681		1978	4177	6155	SO:0001583	missense	27147	exon11			CTTCTCATGAGTG	AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"""DENN/MADD domain containing"""	22212	protein-coding gene	gene with protein product			"""KIAA1277"""	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.2096T>A	7.37:g.140246681A>T	ENSP00000275884:p.Met699Lys	150	0		182	73	NM_015689	0	0	4	4	0	C9JUI3|Q1RMD5|Q86XY0	Missense_Mutation	SNP	ENST00000275884.6	37	CCDS43659.1	.	.	.	.	.	.	.	.	.	.	A	27.3	4.816443	0.90790	.	.	ENSG00000146966	ENST00000275884;ENST00000537639;ENST00000496613;ENST00000469373;ENST00000492720	T;T;T;T;T	0.12147	2.71;2.71;2.71;2.71;2.71	5.63	5.63	0.86233	DENN (3);	0.000000	0.85682	D	0.000000	T	0.44371	0.1290	M	0.86573	2.825	0.80722	D	1	D;D	0.89917	1.0;0.991	D;D	0.87578	0.998;0.987	T	0.51903	-0.8646	10	0.87932	D	0	-35.7477	15.8309	0.78749	1.0:0.0:0.0:0.0	.	699;699	Q9ULE3-2;Q9ULE3	.;DEN2A_HUMAN	K	699;699;699;46;699	ENSP00000275884:M699K;ENSP00000442245:M699K;ENSP00000419654:M699K;ENSP00000420145:M46K;ENSP00000419464:M699K	ENSP00000275884:M699K	M	-	2	0	DENND2A	139893150	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.140000	0.94607	2.152000	0.67230	0.459000	0.35465	ATG	.		0.512	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348742.1	NM_015689	
AGK	55750	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	141333740	141333740	+	Nonsense_Mutation	SNP	C	C	T	rs368565785		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:141333740C>T	ENST00000355413.4	+	10	888	c.628C>T	c.(628-630)Cga>Tga	p.R210*	AGK_ENST00000473247.1_Nonsense_Mutation_p.R182*|AGK_ENST00000535825.1_Nonsense_Mutation_p.R207*	NM_018238.3	NP_060708.1	Q53H12	AGK_HUMAN	acylglycerol kinase	210					ceramide biosynthetic process (GO:0046513)|glycerolipid metabolic process (GO:0046486)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	acylglycerol kinase activity (GO:0047620)|ATP binding (GO:0005524)|ceramide kinase activity (GO:0001729)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17	Melanoma(164;0.0171)					GACCGGCCTTCGATGGGGATC	0.368																																					p.R210X		.											.	AGK-290	0			c.C628T						.	C	stop/ARG	0,4406		0,0,2203	120.0	122.0	121.0		628	4.7	0.8	7		121	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	AGK	NM_018238.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		210/423	141333740	1,13005	2203	4300	6503	SO:0001587	stop_gained	55750	exon10			GGCCTTCGATGGG	BC022777	CCDS5865.1	7q34	2010-05-04	2007-01-11	2007-01-11	ENSG00000006530	ENSG00000006530	2.7.1.94		21869	protein-coding gene	gene with protein product		610345	"""multiple substrate lipid kinase"""	MULK		15252046, 15939762, 17135245	Standard	NM_018238		Approved	FLJ10842	uc003vwi.2	Q53H12	OTTHUMG00000157499	ENST00000355413.4:c.628C>T	7.37:g.141333740C>T	ENSP00000347581:p.Arg210*	74	0		84	35	NM_018238	0	0	27	28	1	Q75KN1|Q96GC3|Q9NP48	Nonsense_Mutation	SNP	ENST00000355413.4	37	CCDS5865.1	.	.	.	.	.	.	.	.	.	.	C	36	5.645391	0.96704	0.0	1.16E-4	ENSG00000006530	ENST00000355413;ENST00000473247;ENST00000535825	.	.	.	5.66	4.71	0.59529	.	0.052163	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	.	12.7788	0.57464	0.1968:0.8032:0.0:0.0	.	.	.	.	X	210;182;207	.	ENSP00000347581:R210X	R	+	1	2	AGK	140980209	0.533000	0.26354	0.769000	0.31535	0.930000	0.56654	0.847000	0.27696	2.681000	0.91329	0.655000	0.94253	CGA	.		0.368	AGK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348969.1	NM_018238	
MGAM	8972	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	141736707	141736707	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:141736707C>T	ENST00000549489.2	+	18	2256	c.2161C>T	c.(2161-2163)Ccc>Tcc	p.P721S	MGAM_ENST00000475668.2_Missense_Mutation_p.P721S	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	721	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TACTCTATTGCCCTACCTATA	0.512																																					p.P721S		.											.	MGAM-70	0			c.C2161T						.						200.0	205.0	203.0					7																	141736707		2094	4224	6318	SO:0001583	missense	8972	exon18			CTATTGCCCTACC	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.2161C>T	7.37:g.141736707C>T	ENSP00000447378:p.Pro721Ser	107	0		104	48	NM_004668	0	0	0	0	0	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	C	31	5.095970	0.94197	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	D	0.96522	-4.04	5.81	5.81	0.92471	Glycoside hydrolase, superfamily (1);	0.000000	0.53938	D	0.000059	D	0.98723	0.9571	H	0.96175	3.78	0.58432	D	0.999996	D	0.71674	0.998	D	0.64237	0.923	D	0.99474	1.0946	10	0.87932	D	0	.	18.8472	0.92212	0.0:1.0:0.0:0.0	.	721	O43451	MGA_HUMAN	S	721;721;598	ENSP00000447378:P721S	ENSP00000316431:P598S	P	+	1	0	MGAM	141383176	1.000000	0.71417	0.995000	0.50966	0.889000	0.51656	7.818000	0.86416	2.763000	0.94921	0.650000	0.86243	CCC	.		0.512	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3		
MGAM	8972	broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	141805626	141805626	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:141805626G>A	ENST00000549489.2	+	48	5604	c.5509G>A	c.(5509-5511)Gat>Aat	p.D1837N	MGAM_ENST00000475668.2_Missense_Mutation_p.D2733N	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1837					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.D1837H(2)|p.D2734H(1)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ATTAAGCATCGATGTGACTGA	0.373																																					p.D1837N		.											.	MGAM-70	3	Substitution - Missense(3)	lung(3)	c.G5509A						.						127.0	118.0	121.0					7																	141805626		1851	4112	5963	SO:0001583	missense	8972	exon48			AGCATCGATGTGA	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.5509G>A	7.37:g.141805626G>A	ENSP00000447378:p.Asp1837Asn	95	1		80	30	NM_004668	0	0	2	3	1	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	G	3.859	-0.030216	0.07543	.	.	ENSG00000257335	ENST00000549489;ENST00000475668	D	0.89123	-2.47	5.43	-3.87	0.04218	.	.	.	.	.	T	0.78679	0.4321	N	0.17674	0.51	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.60094	-0.7330	9	0.28530	T	0.3	.	12.6769	0.56899	0.7837:0.0:0.2163:0.0	.	1837	O43451	MGA_HUMAN	N	1837;2734	ENSP00000447378:D1837N	ENSP00000373973:D1837N	D	+	1	0	MGAM	141452095	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.618000	0.05578	-0.629000	0.05575	-0.123000	0.14984	GAT	.		0.373	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3		
PRSS58	136541	broad.mit.edu	37	7	141955448	141955448	+	Frame_Shift_Del	DEL	G	G	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:141955448delG	ENST00000552471.1	-	2	405	c.86delC	c.(85-87)cctfs	p.P29fs	PRSS58_ENST00000547058.2_Frame_Shift_Del_p.P29fs			Q8IYP2	PRS58_HUMAN	protease, serine, 58	29	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						GACCAAGTAAGGGGGAGTGGA	0.468																																					p.P29fs		.											.	PRSS58-24	0			c.86delC						.			0,4264		0,0,2132	86.0	84.0	85.0			-3.4	0.2	7		84	1,8253		0,1,4126	no	frameshift	PRSS58	NM_001001317.3		0,1,6258	A1A1,A1R,RR		0.0121,0.0,0.0080			141955448	1,12517	2203	4300	6503	SO:0001589	frameshift_variant	136541	exon3			AAGTAAGGGGGAG		CCDS5871.1	7q34	2012-10-03			ENSG00000258223	ENSG00000258223	3.4.21.4	"""Serine peptidases / Serine peptidases"""	39125	protein-coding gene	gene with protein product	"""trypsin X3"""						Standard	NM_001001317		Approved	TRYX3	uc003vxc.4	Q8IYP2	OTTHUMG00000158565	ENST00000552471.1:c.86delC	7.37:g.141955448delG	ENSP00000446916:p.Pro29fs	169	0		233	8	NM_001001317	0	0	0	0	0	B3KVJ6|D3DXD2	Frame_Shift_Del	DEL	ENST00000552471.1	37	CCDS5871.1																																																																																			.		0.468	PRSS58-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351328.2	NM_001001317	
PRSS1	5644	bcgsc.ca	37	7	142458511	142458511	+	Missense_Mutation	SNP	G	G	T	rs138464021		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:142458511G>T	ENST00000311737.7	+	2	152	c.146G>T	c.(145-147)gGt>gTt	p.G49V	PRSS1_ENST00000486171.1_Missense_Mutation_p.G49V	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	49	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		Aprotinin(DB06692)	CACTTCTGTGGTGGCTCCCTC	0.567																																					p.G49V		.											.	PRSS1-577	0			c.G146T						.						105.0	104.0	104.0					7																	142458511		2203	4300	6503	SO:0001583	missense	5644	exon2			TCTGTGGTGGCTC	M22612	CCDS5872.1	7q34	2012-10-02			ENSG00000204983	ENSG00000204983	3.4.21.4	"""Serine peptidases / Serine peptidases"""	9475	protein-coding gene	gene with protein product		276000		TRY1			Standard	NM_002769		Approved		uc003wak.2	P07477	OTTHUMG00000158923	ENST00000311737.7:c.146G>T	7.37:g.142458511G>T	ENSP00000308720:p.Gly49Val	176	1		283	21	NM_002769	0	0	0	0	0	A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7	Missense_Mutation	SNP	ENST00000311737.7	37	CCDS5872.1	.	.	.	.	.	.	.	.	.	.	G	13.97	2.396129	0.42512	.	.	ENSG00000204983	ENST00000486171;ENST00000311737;ENST00000529243	D;D	0.94000	-3.33;-3.33	3.49	3.49	0.39957	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.97514	0.9186	H	0.95816	3.725	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98595	1.0656	10	0.87932	D	0	.	14.3966	0.67015	0.0:0.0:1.0:0.0	.	49	P07477	TRY1_HUMAN	V	49	ENSP00000417854:G49V;ENSP00000308720:G49V	ENSP00000308720:G49V	G	+	2	0	PRSS1	142138085	1.000000	0.71417	0.132000	0.22025	0.019000	0.09904	9.521000	0.98029	1.879000	0.54435	0.404000	0.27445	GGT	G|0.951;T|0.049		0.567	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352538.2		
EPHB6	2051	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	142562373	142562373	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:142562373G>A	ENST00000392957.2	+	7	1602	c.815G>A	c.(814-816)gGa>gAa	p.G272E	EPHB6_ENST00000442129.1_Missense_Mutation_p.G272E|EPHB6_ENST00000411471.2_Intron	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	272	Cys-rich.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GAGGAGGATGGAGTAGGGGGC	0.677																																					p.G272E		.											.	EPHB6-1489	0			c.G815A						.						38.0	47.0	44.0					7																	142562373		2174	4247	6421	SO:0001583	missense	2051	exon7			AGGATGGAGTAGG	D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3396	protein-coding gene	gene with protein product		602757	"""EphB6"""				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.815G>A	7.37:g.142562373G>A	ENSP00000376684:p.Gly272Glu	53	0		102	26	NM_004445	0	0	1	1	0	A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Missense_Mutation	SNP	ENST00000392957.2	37	CCDS5873.2	.	.	.	.	.	.	.	.	.	.	G	14.99	2.699413	0.48307	.	.	ENSG00000106123	ENST00000392957;ENST00000442129	T;T	0.69306	-0.39;-0.39	5.17	4.29	0.51040	.	0.000000	0.47093	D	0.000248	T	0.34745	0.0908	N	0.01048	-1.04	0.80722	D	1	P	0.48503	0.911	B	0.42282	0.382	T	0.45542	-0.9254	10	0.72032	D	0.01	.	6.3766	0.21511	0.0909:0.0:0.728:0.1811	.	272	O15197	EPHB6_HUMAN	E	272	ENSP00000376684:G272E;ENSP00000410789:G272E	ENSP00000376684:G272E	G	+	2	0	EPHB6	142272495	0.987000	0.35691	0.900000	0.35374	0.922000	0.55478	2.192000	0.42649	1.403000	0.46800	0.655000	0.94253	GGA	.		0.677	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1		
OR6V1	346517	broad.mit.edu;mdanderson.org	37	7	142750331	142750331	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:142750331G>A	ENST00000418316.1	+	1	915	c.894G>A	c.(892-894)gtG>gtA	p.V298V		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	298						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					TTAAAACAGTGCTACAGGGGC	0.537																																					p.V298V		.											.	OR6V1-23	0			c.G894A						.						46.0	46.0	46.0					7																	142750331		1918	4126	6044	SO:0001819	synonymous_variant	346517	exon1			AACAGTGCTACAG		CCDS47728.1	7q34	2014-05-06			ENSG00000225781	ENSG00000225781		"""GPCR / Class A : Olfactory receptors"""	15090	protein-coding gene	gene with protein product						12732197	Standard	NM_001001667		Approved	GPR138	uc011ksv.2	Q8N148	OTTHUMG00000158385	ENST00000418316.1:c.894G>A	7.37:g.142750331G>A		31	0		48	19	NM_001001667	0	0	0	0	0	A4D2I0|B9EH48|Q6IF70	Silent	SNP	ENST00000418316.1	37	CCDS47728.1																																																																																			.		0.537	OR6V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350860.1		
EPHA1	2041	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	7	143088818	143088818	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:143088818C>T	ENST00000275815.3	-	17	2833	c.2747G>A	c.(2746-2748)cGa>cAa	p.R916Q	EPHA1_ENST00000458129.1_5'Flank	NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	916	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)	p.R916Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				AGAGACGGTTCGATATGGGAT	0.582																																					p.R916Q		.											.	EPHA1-1436	1	Substitution - Missense(1)	large_intestine(1)	c.G2747A						.						83.0	63.0	70.0					7																	143088818		2203	4300	6503	SO:0001583	missense	2041	exon17			ACGGTTCGATATG	M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3385	protein-coding gene	gene with protein product		179610	"""EphA1"""	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.2747G>A	7.37:g.143088818C>T	ENSP00000275815:p.Arg916Gln	116	0		136	8	NM_005232	0	0	0	0	0	A1L3V3|B5A966|B5A967|Q15405	Missense_Mutation	SNP	ENST00000275815.3	37	CCDS5884.1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.726943	0.48833	.	.	ENSG00000146904	ENST00000275815	T	0.49139	0.79	4.67	4.67	0.58626	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.46758	D	0.000274	T	0.58949	0.2158	L	0.33245	0.995	0.38179	D	0.93956	D	0.89917	1.0	D	0.76071	0.987	T	0.61821	-0.6984	10	0.44086	T	0.13	.	18.1442	0.89649	0.0:1.0:0.0:0.0	.	916	P21709	EPHA1_HUMAN	Q	916	ENSP00000275815:R916Q	ENSP00000275815:R916Q	R	-	2	0	EPHA1	142798940	0.931000	0.31567	0.375000	0.26029	0.004000	0.04260	2.005000	0.40864	2.583000	0.87209	0.561000	0.74099	CGA	.		0.582	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1		
OR2F2	135948	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	143632752	143632752	+	Missense_Mutation	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:143632752A>G	ENST00000408955.2	+	1	494	c.427A>G	c.(427-429)Agg>Ggg	p.R143G		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	143						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					GCTGTGTGCTAGGTTGGCCAT	0.527																																					p.R143G		.											.	OR2F2-94	0			c.A427G						.						129.0	116.0	120.0					7																	143632752		2203	4300	6503	SO:0001583	missense	135948	exon1			TGTGCTAGGTTGG		CCDS43666.1	7q33-q35	2012-08-09			ENSG00000221910	ENSG00000221910		"""GPCR / Class A : Olfactory receptors"""	8247	protein-coding gene	gene with protein product							Standard	NM_001004685		Approved	OR7-1	uc011ktv.2	O95006	OTTHUMG00000157768	ENST00000408955.2:c.427A>G	7.37:g.143632752A>G	ENSP00000386222:p.Arg143Gly	273	1		342	136	NM_001004685	0	0	0	0	0	A4D2G0|Q6IFP8	Missense_Mutation	SNP	ENST00000408955.2	37	CCDS43666.1	.	.	.	.	.	.	.	.	.	.	A	0.562	-0.844900	0.02671	.	.	ENSG00000221910	ENST00000408955	T	0.00115	8.71	3.68	2.41	0.29592	GPCR, rhodopsin-like superfamily (1);	0.107460	0.41823	D	0.000804	T	0.00073	0.0002	N	0.02665	-0.54	0.09310	N	1	B	0.31859	0.343	B	0.37198	0.243	T	0.07290	-1.0780	10	0.18276	T	0.48	-4.3533	3.5187	0.07734	0.6429:0.2334:0.1237:0.0	.	143	O95006	OR2F2_HUMAN	G	143	ENSP00000386222:R143G	ENSP00000386222:R143G	R	+	1	2	OR2F2	143263685	0.000000	0.05858	0.106000	0.21319	0.283000	0.27025	0.201000	0.17276	1.664000	0.50801	0.402000	0.26972	AGG	.		0.527	OR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349570.1		
ZNF467	168544	hgsc.bcm.edu	37	7	149462337	149462337	+	Silent	SNP	G	G	A	rs855667	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:149462337G>A	ENST00000302017.3	-	5	1667	c.1254C>T	c.(1252-1254)ccC>ccT	p.P418P	ZNF467_ENST00000484747.1_Intron	NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467	418					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(2)|liver(1)|lung(7)|urinary_tract(1)	13	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGGGCACCACGGGATCGGATC	0.776													A|||	1297	0.258986	0.6051	0.1513	5008	,	,		9829	0.0774		0.1779	False		,,,				2504	0.138				p.P418P		.											.	ZNF467-90	0			c.C1254T						.	A		1016,1770		158,700,535	2.0	2.0	2.0		1254	-5.3	0.0	7	dbSNP_86	2	781,5233		68,645,2294	no	coding-synonymous	ZNF467	NM_207336.1		226,1345,2829	AA,AG,GG		12.9864,36.4681,20.4205		418/596	149462337	1797,7003	1393	3007	4400	SO:0001819	synonymous_variant	168544	exon5			CACCACGGGATCG	BC029296	CCDS5899.1	7q36.1	2013-01-08			ENSG00000181444	ENSG00000181444		"""Zinc fingers, C2H2-type"""	23154	protein-coding gene	gene with protein product		614040				12426389	Standard	NM_207336		Approved	EZI, Zfp467	uc003wgd.2	Q7Z7K2	OTTHUMG00000157883	ENST00000302017.3:c.1254C>T	7.37:g.149462337G>A		0	0		6	4	NM_207336	0	0	1	2	1		Silent	SNP	ENST00000302017.3	37	CCDS5899.1																																																																																			G|0.763;A|0.237		0.776	ZNF467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349833.1	NM_207336	
SSPO	23145	broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	149493469	149493469	+	RNA	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:149493469G>A	ENST00000378016.2	+	0	6545							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTTTTCCCCAGAAACTGGGAT	0.562																																					p.R2182K		.											.	.	0			c.G6545A						.						93.0	105.0	101.0					7																	149493469		2099	4215	6314			23145	exon44			TCCCCAGAAACTG	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149493469G>A		135	1		165	72	NM_198455	0	0	0	0	0	Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37																																																																																				.		0.562	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript			
SSPO	23145	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	7	149508059	149508059	+	RNA	DEL	C	C	-	rs556475718		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:149508059delC	ENST00000378016.2	+	0	9453							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGCACCTCTACCCCCCGGGCA	0.607																																					p.Y3151fs		.											.	.	0			c.9453delC						.						47.0	54.0	51.0					7																	149508059		1957	4139	6096			23145	exon66			CCTCTACCCCCCG	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149508059delC		58	0		83	32	NM_198455	0	0	0	0	0	Q76B61	Frame_Shift_Del	DEL	ENST00000378016.2	37																																																																																				.		0.607	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript			
LRRC61	65999	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	150034194	150034194	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:150034194G>A	ENST00000359623.4	+	3	832	c.244G>A	c.(244-246)Gtc>Atc	p.V82I	LRRC61_ENST00000323078.7_Missense_Mutation_p.V82I|LRRC61_ENST00000493307.1_Missense_Mutation_p.V82I	NM_001142928.1	NP_001136400.1	Q9BV99	LRC61_HUMAN	leucine rich repeat containing 61	82										endometrium(2)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(82;0.011)			TGTGCTCAATGTCTCCAACAA	0.652																																					p.V82I		.											.	LRRC61-90	0			c.G244A						.						46.0	45.0	45.0					7																	150034194		2203	4296	6499	SO:0001583	missense	65999	exon2			CTCAATGTCTCCA	BC001354	CCDS5901.1	7q31-q35	2006-02-07			ENSG00000127399	ENSG00000127399			21704	protein-coding gene	gene with protein product							Standard	NM_023942		Approved	MGC3036, FLJ31392, HSPC295	uc003wgv.4	Q9BV99	OTTHUMG00000158326	ENST00000359623.4:c.244G>A	7.37:g.150034194G>A	ENSP00000352642:p.Val82Ile	60	1		97	34	NM_023942	0	0	0	0	0	B3KUW0|D3DWY8	Missense_Mutation	SNP	ENST00000359623.4	37	CCDS5901.1	.	.	.	.	.	.	.	.	.	.	G	8.599	0.886292	0.17540	.	.	ENSG00000127399	ENST00000323078;ENST00000359623;ENST00000493307	T;T;T	0.09255	3.0;3.0;3.0	5.08	5.08	0.68730	.	0.283939	0.27861	N	0.017550	T	0.13841	0.0335	L	0.33710	1.025	0.33640	D	0.607129	P	0.52316	0.952	P	0.51615	0.675	T	0.11299	-1.0593	10	0.32370	T	0.25	-35.956	11.1591	0.48505	0.0:0.0:0.8159:0.1841	.	82	Q9BV99	LRC61_HUMAN	I	82	ENSP00000339047:V82I;ENSP00000352642:V82I;ENSP00000420560:V82I	ENSP00000339047:V82I	V	+	1	0	LRRC61	149665127	0.934000	0.31675	0.648000	0.29521	0.311000	0.27955	1.744000	0.38268	2.374000	0.81015	0.555000	0.69702	GTC	.		0.652	LRRC61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350696.1	NM_023942	
REPIN1	29803	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	150069842	150069842	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:150069842G>A	ENST00000425389.2	+	1	1590	c.1512G>A	c.(1510-1512)tcG>tcA	p.S504S	REPIN1_ENST00000444957.1_Silent_p.S504S|REPIN1_ENST00000540729.1_Silent_p.S504S|RP4-584D14.5_ENST00000488310.1_RNA|REPIN1_ENST00000489432.2_Silent_p.S561S|REPIN1_ENST00000479668.1_3'UTR|REPIN1_ENST00000397281.2_Silent_p.S504S	NM_014374.3	NP_055189.2	Q9BWE0	REPI1_HUMAN	replication initiator 1	504					DNA replication (GO:0006260)|regulation of fatty acid transport (GO:2000191)|regulation of glucose import in response to insulin stimulus (GO:2001273)	cytosolic ribosome (GO:0022626)|lipid particle (GO:0005811)|nuclear membrane (GO:0031965)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			ACCTGGTGTCGCACCGGCGCA	0.667																																					p.S561S		.											.	REPIN1-69	0			c.G1683A						.						43.0	50.0	48.0					7																	150069842		2203	4299	6502	SO:0001819	synonymous_variant	29803	exon3			GGTGTCGCACCGG	AF201303	CCDS43677.1, CCDS47745.1	7q36.1	2013-01-08	2003-08-07	2003-08-08				"""Zinc fingers, C2H2-type"""	17922	protein-coding gene	gene with protein product	"""replication initiation region protein (60kD)"", ""zinc finger protein AP4"", ""zinc finger protein 464 (RIP60)"""		"""zinc finger protein 464 (RIP60)"""	ZNF464		10606657	Standard	NM_013400		Approved	RIP60, AP4, H_DJ0584D14.12, Zfp464	uc010lpr.1	Q9BWE0		ENST00000425389.2:c.1512G>A	7.37:g.150069842G>A		48	0		149	64	NM_001099695	0	0	33	59	26	C9J3L7|D3DWZ1|Q7LE03|Q9BUZ6|Q9NZH2|Q9UMP5	Silent	SNP	ENST00000425389.2	37	CCDS43677.1																																																																																			.		0.667	REPIN1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376940.1	NM_014374	
GIMAP8	155038	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	150174335	150174335	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:150174335G>A	ENST00000307271.3	+	5	2039	c.1465G>A	c.(1465-1467)Gtg>Atg	p.V489M		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	489	AIG1-type G 3.|Poly-Val.					cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		CGGACAGGAGGTGGTGGTTGT	0.587																																					p.V489M		.											.	GIMAP8-95	0			c.G1465A						.						91.0	81.0	84.0					7																	150174335		2203	4300	6503	SO:0001583	missense	155038	exon5			CAGGAGGTGGTGG	AL834361	CCDS34777.1	7q36.1	2014-04-04			ENSG00000171115	ENSG00000171115		"""GTPases, IMAP"""	21792	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 9"""					15474311	Standard	XM_005249951		Approved	DKFZp667I133, hIAN6, IAN9	uc003whj.3	Q8ND71	OTTHUMG00000158327	ENST00000307271.3:c.1465G>A	7.37:g.150174335G>A	ENSP00000305107:p.Val489Met	162	0		212	83	NM_175571	0	0	1	1	0		Missense_Mutation	SNP	ENST00000307271.3	37	CCDS34777.1	.	.	.	.	.	.	.	.	.	.	G	19.98	3.926472	0.73327	.	.	ENSG00000171115	ENST00000307271	T	0.08984	3.03	4.42	-0.568	0.11760	AIG1 (1);	0.371433	0.19500	N	0.112743	T	0.23727	0.0574	M	0.80183	2.485	0.09310	N	1	D	0.89917	1.0	D	0.73380	0.98	T	0.02371	-1.1169	10	0.59425	D	0.04	.	8.2066	0.31458	0.3853:0.0:0.6147:0.0	.	489	Q8ND71	GIMA8_HUMAN	M	489	ENSP00000305107:V489M	ENSP00000305107:V489M	V	+	1	0	GIMAP8	149805268	0.011000	0.17503	0.015000	0.15790	0.847000	0.48162	-0.169000	0.09911	-0.039000	0.13602	0.643000	0.83706	GTG	.		0.587	GIMAP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350701.1	NM_175571	
SLC4A2	6522	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	150771569	150771569	+	Silent	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:150771569T>C	ENST00000485713.1	+	18	3914	c.2874T>C	c.(2872-2874)taT>taC	p.Y958Y	SLC4A2_ENST00000461735.1_Silent_p.Y944Y|RP11-148K1.12_ENST00000485974.1_RNA|SLC4A2_ENST00000310317.5_Silent_p.Y876Y|SLC4A2_ENST00000413384.2_Silent_p.Y958Y|SLC4A2_ENST00000392826.2_Silent_p.Y949Y|FASTK_ENST00000489884.1_5'Flank	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	958	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)		AGGACACCTATACCCAGGTAA	0.592																																					p.Y958Y		.											.	SLC4A2-90	0			c.T2874C						.						97.0	87.0	90.0					7																	150771569		2203	4300	6503	SO:0001819	synonymous_variant	6522	exon18			CACCTATACCCAG		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.2874T>C	7.37:g.150771569T>C		91	0		90	39	NM_003040	0	0	0	0	0	B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	Silent	SNP	ENST00000485713.1	37	CCDS5917.1																																																																																			.		0.592	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351039.1	NM_003040	
SHH	6469	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	7	155596348	155596348	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:155596348G>A	ENST00000297261.2	-	3	785	c.635C>T	c.(634-636)aCc>aTc	p.T212I	SHH_ENST00000472308.1_5'Flank	NM_000193.2	NP_000184.1	Q15465	SHH_HUMAN	sonic hedgehog	212					androgen metabolic process (GO:0008209)|apoptotic signaling pathway (GO:0097190)|artery development (GO:0060840)|axon guidance (GO:0007411)|Bergmann glial cell differentiation (GO:0060020)|blood coagulation (GO:0007596)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|branching morphogenesis of an epithelial tube (GO:0048754)|bud outgrowth involved in lung branching (GO:0060447)|camera-type eye development (GO:0043010)|canonical Wnt signaling pathway (GO:0060070)|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment (GO:0043369)|cell development (GO:0048468)|cell fate specification (GO:0001708)|cell-cell signaling (GO:0007267)|cellular response to lithium ion (GO:0071285)|central nervous system development (GO:0007417)|cerebellar granule cell precursor proliferation (GO:0021930)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|dorsal/ventral neural tube patterning (GO:0021904)|dorsal/ventral pattern formation (GO:0009953)|ectoderm development (GO:0007398)|embryo development (GO:0009790)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic skeletal system development (GO:0048706)|endocytosis (GO:0006897)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|establishment of cell polarity (GO:0030010)|forebrain development (GO:0030900)|formation of anatomical boundary (GO:0048859)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|hindgut morphogenesis (GO:0007442)|inner ear development (GO:0048839)|intein-mediated protein splicing (GO:0016539)|intermediate filament organization (GO:0045109)|left lung development (GO:0060459)|limb bud formation (GO:0060174)|lung development (GO:0030324)|lung epithelium development (GO:0060428)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|lymphoid progenitor cell differentiation (GO:0002320)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal smoothened signaling pathway involved in prostate gland development (GO:0060783)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|metanephros development (GO:0001656)|midbrain development (GO:0030901)|multicellular structure septum development (GO:0080125)|myoblast differentiation (GO:0045445)|myotube differentiation (GO:0014902)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell migration (GO:0030336)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of kidney smooth muscle cell differentiation (GO:2000357)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ureter smooth muscle cell differentiation (GO:2000062)|negative thymic T cell selection (GO:0045060)|neural crest cell migration (GO:0001755)|neuroblast proliferation (GO:0007405)|neuron fate commitment (GO:0048663)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|organ formation (GO:0048645)|osteoblast development (GO:0002076)|palate development (GO:0060021)|pancreas development (GO:0031016)|pattern specification process (GO:0007389)|patterning of blood vessels (GO:0001569)|polarity specification of anterior/posterior axis (GO:0009949)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of hh target transcription factor activity (GO:0007228)|positive regulation of immature T cell proliferation in thymus (GO:0033092)|positive regulation of kidney smooth muscle cell differentiation (GO:2000358)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of sclerotome development (GO:0061189)|positive regulation of skeletal muscle cell proliferation (GO:0014858)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of striated muscle cell differentiation (GO:0051155)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureter smooth muscle cell differentiation (GO:2000063)|positive regulation of Wnt signaling pathway (GO:0030177)|positive thymic T cell selection (GO:0045059)|primary prostatic bud elongation (GO:0060516)|prostate epithelial cord elongation (GO:0060523)|prostate gland development (GO:0030850)|protein localization to nucleus (GO:0034504)|regulation of cell proliferation (GO:0042127)|regulation of mesenchymal cell proliferation involved in prostate gland development (GO:0060782)|regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900175)|regulation of odontogenesis (GO:0042481)|regulation of prostatic bud formation (GO:0060685)|regulation of protein localization to nucleus (GO:1900180)|regulation of proteolysis (GO:0030162)|renal system development (GO:0072001)|right lung development (GO:0060458)|salivary gland cavitation (GO:0060662)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|somite development (GO:0061053)|spinal cord dorsal/ventral patterning (GO:0021513)|spinal cord motor neuron differentiation (GO:0021522)|stem cell development (GO:0048864)|striated muscle tissue development (GO:0014706)|T cell differentiation in thymus (GO:0033077)|telencephalon regionalization (GO:0021978)|thalamus development (GO:0021794)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|trachea morphogenesis (GO:0060439)|vasculogenesis (GO:0001570)|ventral midline development (GO:0007418)	cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|laminin-1 binding (GO:0043237)|morphogen activity (GO:0016015)|patched binding (GO:0005113)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CACCAGCTTGGTGCCGCCCTG	0.682																																					p.T212I		.											.	SHH-1134	0			c.C635T						.						12.0	15.0	14.0					7																	155596348		2193	4287	6480	SO:0001583	missense	6469	exon3			AGCTTGGTGCCGC		CCDS5942.1	7q36	2010-06-25	2010-06-25		ENSG00000164690	ENSG00000164690			10848	protein-coding gene	gene with protein product		600725	"""sonic hedgehog (Drosophila) homolog"", ""sonic hedgehog homolog (Drosophila)"""	HPE3, HLP3		7590746	Standard	NM_000193		Approved	HHG1, SMMCI, TPT, TPTPS, MCOPCB5	uc003wmk.1	Q15465	OTTHUMG00000151349	ENST00000297261.2:c.635C>T	7.37:g.155596348G>A	ENSP00000297261:p.Thr212Ile	15	0		81	36	NM_000193	0	0	0	0	0	A4D247|Q75MC9	Missense_Mutation	SNP	ENST00000297261.2	37	CCDS5942.1	.	.	.	.	.	.	.	.	.	.	G	12.11	1.840024	0.32513	.	.	ENSG00000164690	ENST00000297261	D	0.99298	-5.71	4.35	3.45	0.39498	Hedgehog/intein hint, N-terminal (1);Peptidase C46, hedgehog protein, hint region (1);	0.209202	0.41097	D	0.000954	D	0.98460	0.9487	L	0.56340	1.77	0.32413	N	0.550352	D;B	0.55800	0.973;0.451	P;B	0.53988	0.739;0.242	D	0.98576	1.0648	10	0.38643	T	0.18	.	9.4632	0.38798	0.0:0.1567:0.6809:0.1624	.	212;215	Q15465;D9ZGF9	SHH_HUMAN;.	I	212	ENSP00000297261:T212I	ENSP00000297261:T212I	T	-	2	0	SHH	155289109	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.358000	0.52284	1.033000	0.39918	0.556000	0.70494	ACC	.		0.682	SHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322327.1	NM_000193	
VIPR2	7434	broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	158829448	158829448	+	Missense_Mutation	SNP	C	C	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:158829448C>G	ENST00000262178.2	-	7	928	c.743G>C	c.(742-744)gGa>gCa	p.G248A	VIPR2_ENST00000402066.1_Missense_Mutation_p.G389A|VIPR2_ENST00000377633.3_Missense_Mutation_p.G232A	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	248					activation of adenylate cyclase activity (GO:0007190)|cell-cell signaling (GO:0007267)|negative regulation of smooth muscle cell proliferation (GO:0048662)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|vasoactive intestinal polypeptide receptor activity (GO:0004999)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		CTTACCCCATCCGATCAGGAG	0.587																																					p.G248A	Pancreas(154;1876 1931 2329 17914 20079)	.											.	VIPR2-91	0			c.G743C						.						46.0	38.0	41.0					7																	158829448		2203	4299	6502	SO:0001583	missense	7434	exon7			CCCCATCCGATCA	CA449700, X95097	CCDS5950.1	7q36.3	2012-08-10			ENSG00000106018	ENSG00000106018		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	12695	protein-coding gene	gene with protein product	"""VIP and PACAP receptor 2"""	601970				7811244	Standard	NM_003382		Approved	VPAC2, VPAC2R	uc003woh.3	P41587	OTTHUMG00000151446	ENST00000262178.2:c.743G>C	7.37:g.158829448C>G	ENSP00000262178:p.Gly248Ala	111	1		148	56	NM_003382	0	0	0	0	0	Q13053|Q15870|Q53Y09|Q6ZN22|Q9UCW0	Missense_Mutation	SNP	ENST00000262178.2	37	CCDS5950.1	.	.	.	.	.	.	.	.	.	.	C	14.64	2.597171	0.46318	.	.	ENSG00000106018	ENST00000262178;ENST00000377633;ENST00000402066	D;D;D	0.84516	-1.86;-1.86;-1.86	4.68	3.8	0.43715	GPCR, family 2-like (1);	0.121727	0.36740	N	0.002427	D	0.94886	0.8347	H	0.98351	4.21	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94921	0.8073	9	.	.	.	.	10.6377	0.45575	0.0:0.905:0.0:0.095	.	248	P41587	VIPR2_HUMAN	A	248;232;389	ENSP00000262178:G248A;ENSP00000366860:G232A;ENSP00000384497:G389A	.	G	-	2	0	VIPR2	158522209	1.000000	0.71417	0.995000	0.50966	0.079000	0.17450	6.921000	0.75805	0.961000	0.38030	-0.258000	0.10820	GGA	.		0.587	VIPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322675.1	NM_003382	
CSMD1	64478	hgsc.bcm.edu;bcgsc.ca	37	8	2909997	2909997	+	Silent	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr8:2909997C>T	ENST00000520002.1	-	51	8205	c.7650G>A	c.(7648-7650)ccG>ccA	p.P2550P	CSMD1_ENST00000602723.1_Silent_p.P2550P|CSMD1_ENST00000542608.1_Silent_p.P2549P|CSMD1_ENST00000537824.1_Silent_p.P2549P|CSMD1_ENST00000400186.3_Silent_p.P2550P|CSMD1_ENST00000602557.1_Silent_p.P2550P			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2550	Sushi 15. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TACACGTGGGCGGCTTCCCCT	0.522																																					p.P2549P		.											.	CSMD1-86	0			c.G7647A						.						57.0	54.0	55.0					8																	2909997		1980	4158	6138	SO:0001819	synonymous_variant	64478	exon50			CGTGGGCGGCTTC			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.7650G>A	8.37:g.2909997C>T		89	0		72	5	NM_033225	0	0	0	0	0	Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37		.	.	.	.	.	.	.	.	.	.	C	0.830	-0.745481	0.03065	.	.	ENSG00000183117	ENST00000335551	.	.	.	5.32	-9.2	0.00682	.	.	.	.	.	T	0.34454	0.0898	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39961	-0.9588	4	.	.	.	.	2.7572	0.05296	0.0999:0.1738:0.1779:0.5484	.	.	.	.	T	1967	.	.	A	-	1	0	CSMD1	2897404	0.086000	0.21541	0.002000	0.10522	0.063000	0.16089	-1.068000	0.03447	-2.034000	0.00924	-0.119000	0.15052	GCC	.		0.522	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225	
RP1L1	94137	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	10465815	10465815	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr8:10465815G>A	ENST00000382483.3	-	4	6016	c.5793C>T	c.(5791-5793)gaC>gaT	p.D1931D		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	2011	25 X 16 AA approximate tandem repeats of [ED]-[AT]-[PQ]-[ED]-[AVT]-E-[GKE]-[ED]- [AMT]-Q-[EPK]-[EAT]-[TSELP]-[EG]- [EGSQDI]-[AVIE].				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)		ACTCTGGCTCGTCCTCCCCTT	0.607																																					p.D1931D		.											.	RP1L1-139	0			c.C5793T						.						124.0	139.0	134.0					8																	10465815		2042	4177	6219	SO:0001819	synonymous_variant	94137	exon4			TGGCTCGTCCTCC	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.5793C>T	8.37:g.10465815G>A		40	0		26	18	NM_178857	0	0	0	0	0	Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Silent	SNP	ENST00000382483.3	37	CCDS43708.1																																																																																			.		0.607	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1		
SLC35G5	83650	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	11189624	11189624	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr8:11189624G>A	ENST00000382435.4	+	1	1228	c.1009G>A	c.(1009-1011)Gag>Aag	p.E337K		NM_001282300.1|NM_054028.1	NP_001269229.1|NP_473369.1	Q96KT7	S35G5_HUMAN	solute carrier family 35, member G5	337						integral component of membrane (GO:0016021)											AGGGAAGGTGGAGGAGTGAGA	0.478																																					p.E337K		.											.	.	0			c.G1009A						.						47.0	51.0	50.0					8																	11189624		2203	4300	6503	SO:0001583	missense	83650	exon1			AAGGTGGAGGAGT	AJ291677	CCDS5980.1	8p23.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000177710	ENSG00000177710		"""Solute carriers"""	15546	protein-coding gene	gene with protein product		615199	"""acyl-malonyl condensing enzyme 1-like 2"""	AMAC, AMAC1L2			Standard	NM_054028		Approved		uc003wtp.1	Q96KT7	OTTHUMG00000090653	ENST00000382435.4:c.1009G>A	8.37:g.11189624G>A	ENSP00000371872:p.Glu337Lys	102	0		60	21	NM_054028	0	0	0	0	0	A2RRL6	Missense_Mutation	SNP	ENST00000382435.4	37	CCDS5980.1	.	.	.	.	.	.	.	.	.	.	g	11.39	1.625459	0.28889	.	.	ENSG00000177710	ENST00000382435	T	0.36699	1.24	.	.	.	.	0.146689	0.30771	N	0.008908	T	0.27489	0.0675	L	0.44542	1.39	0.27572	N	0.949869	P	0.46395	0.877	B	0.43194	0.411	T	0.13845	-1.0494	8	0.51188	T	0.08	-6.6001	.	.	.	.	337	Q96KT7	S35G5_HUMAN	K	337	ENSP00000371872:E337K	ENSP00000371872:E337K	E	+	1	0	SLC35G5	11227034	0.390000	0.25213	0.257000	0.24404	0.258000	0.26162	-0.606000	0.05654	0.064000	0.16427	0.064000	0.15345	GAG	.		0.478	SLC35G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207313.2	NM_054028	
LONRF1	91694	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	12580711	12580711	+	Missense_Mutation	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr8:12580711A>G	ENST00000398246.3	-	12	2285	c.2216T>C	c.(2215-2217)gTa>gCa	p.V739A	LONRF1_ENST00000533751.1_Missense_Mutation_p.V382A|LONRF1_ENST00000525024.1_Missense_Mutation_p.V165A	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger 1	739	Lon.						ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		TCGTGGGTCTACAGGGAGAAC	0.413																																					p.V739A		.											.	LONRF1-91	0			c.T2216C						.						130.0	136.0	134.0					8																	12580711		1954	4127	6081	SO:0001583	missense	91694	exon12			GGGTCTACAGGGA	AK074329	CCDS5987.2	8p23.1	2013-01-09			ENSG00000154359	ENSG00000154359		"""RING-type (C3HC4) zinc fingers"""	26302	protein-coding gene	gene with protein product						18253036	Standard	XM_005273685		Approved	FLJ23749, RNF191	uc003wwd.1	Q17RB8	OTTHUMG00000165475	ENST00000398246.3:c.2216T>C	8.37:g.12580711A>G	ENSP00000381298:p.Val739Ala	105	0		51	37	NM_152271	0	0	2	4	2	B4DM29|B4DU84|Q8TEA0|Q9BSV1	Missense_Mutation	SNP	ENST00000398246.3	37	CCDS5987.2	.	.	.	.	.	.	.	.	.	.	A	22.1	4.245324	0.80024	.	.	ENSG00000154359	ENST00000398246;ENST00000525024;ENST00000533751;ENST00000524526	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	4.96	4.96	0.65561	Peptidase S16, lon N-terminal (1);PUA-like domain (1);	0.055580	0.64402	D	0.000001	T	0.50514	0.1620	L	0.32530	0.975	0.58432	D	0.999998	P;P	0.45957	0.841;0.869	P;P	0.59288	0.693;0.855	T	0.49542	-0.8929	10	0.48119	T	0.1	-18.2214	15.3451	0.74330	1.0:0.0:0.0:0.0	.	728;739	Q17RB8-2;Q17RB8	.;LONF1_HUMAN	A	739;165;382;342	ENSP00000381298:V739A;ENSP00000436770:V165A;ENSP00000432130:V382A;ENSP00000433327:V342A	ENSP00000381298:V739A	V	-	2	0	LONRF1	12625082	1.000000	0.71417	0.982000	0.44146	0.984000	0.73092	8.831000	0.92068	2.157000	0.67596	0.533000	0.62120	GTA	.		0.413	LONRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251693.2	NM_152271	
LZTS1	11178	broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	20110358	20110358	+	Missense_Mutation	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr8:20110358T>C	ENST00000381569.1	-	3	1441	c.1084A>G	c.(1084-1086)Aag>Gag	p.K362E	LZTS1_ENST00000522290.1_Missense_Mutation_p.K362E|LZTS1_ENST00000265801.6_Missense_Mutation_p.K362E			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	362					cell cycle (GO:0007049)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of macroautophagy (GO:0016242)|positive regulation of type I interferon production (GO:0032481)|regulation of dendrite morphogenesis (GO:0048814)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|nucleoplasm (GO:0005654)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		GACCTGAGCTTGGTCTCCAGC	0.642																																					p.K362E		.											.	LZTS1-91	0			c.A1084G						.						33.0	34.0	34.0					8																	20110358		2203	4300	6503	SO:0001583	missense	11178	exon2			TGAGCTTGGTCTC	AF123659	CCDS6015.1	8p22	2012-10-05			ENSG00000061337	ENSG00000061337			13861	protein-coding gene	gene with protein product		606551	"""F37/Esophageal cancer-related gene-coding leucine-zipper motif"""			10097140, 17349584	Standard	NM_021020		Approved	FEZ1	uc003wzr.3	Q9Y250	OTTHUMG00000097027	ENST00000381569.1:c.1084A>G	8.37:g.20110358T>C	ENSP00000370981:p.Lys362Glu	92	1		73	63	NM_021020	0	0	4	5	1	D3DSQ6|Q9Y5V7|Q9Y5V8|Q9Y5V9|Q9Y5W0|Q9Y5W1|Q9Y5W2	Missense_Mutation	SNP	ENST00000381569.1	37	CCDS6015.1	.	.	.	.	.	.	.	.	.	.	T	18.53	3.645050	0.67358	.	.	ENSG00000061337	ENST00000381569;ENST00000265801;ENST00000522290;ENST00000360248	T;T;T	0.25579	2.11;2.11;1.79	5.45	5.45	0.79879	.	0.045716	0.85682	D	0.000000	T	0.42177	0.1191	M	0.74881	2.28	0.37082	D	0.899058	D;B	0.58620	0.983;0.022	P;B	0.56434	0.798;0.025	T	0.47368	-0.9123	10	0.12766	T	0.61	-43.7941	14.3373	0.66600	0.0:0.0:0.0:1.0	.	362;362	Q9Y250-4;Q9Y250	.;LZTS1_HUMAN	E	362	ENSP00000370981:K362E;ENSP00000265801:K362E;ENSP00000429263:K362E	ENSP00000265801:K362E	K	-	1	0	LZTS1	20154638	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.370000	0.52372	2.068000	0.61886	0.459000	0.35465	AAG	.		0.642	LZTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214122.1	NM_021020	
NEFM	4741	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	24775356	24775356	+	Missense_Mutation	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr8:24775356A>G	ENST00000221166.5	+	3	2770	c.1988A>G	c.(1987-1989)gAg>gGg	p.E663G	NEFM_ENST00000433454.2_Missense_Mutation_p.E287G|NEFM_ENST00000437366.2_Intron|NEFM_ENST00000521540.1_Intron|NEFM_ENST00000518131.1_Intron			P07197	NFM_HUMAN	neurofilament, medium polypeptide	663	6 X 13 AA approximate tandem repeats of K-S-P-V-[PS]-K-S-P-V-E-E-[KA]-[GAK].|Tail.				axon cargo transport (GO:0008088)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|regulation of axon diameter (GO:0031133)	axon (GO:0030424)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)|neuromuscular junction (GO:0031594)	microtubule binding (GO:0008017)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		CCAGTGGAAGAGAAAGGCAAG	0.498																																					p.E663G		.											.	NEFM-577	0			c.A1988G						.						97.0	98.0	98.0					8																	24775356		2203	4300	6503	SO:0001583	missense	4741	exon3			TGGAAGAGAAAGG	BC002421	CCDS6046.1, CCDS47831.1	8p21	2013-01-16	2008-09-19	2006-11-20	ENSG00000104722	ENSG00000104722		"""Intermediate filaments type IV"""	7734	protein-coding gene	gene with protein product		162250	"""neurofilament, medium polypeptide 150kDa"""	NEF3		1348579	Standard	NM_001105541		Approved	NFM, NF-M	uc003xed.4	P07197	OTTHUMG00000131990	ENST00000221166.5:c.1988A>G	8.37:g.24775356A>G	ENSP00000221166:p.Glu663Gly	222	0		175	132	NM_005382	0	0	1	2	1	B4DGN2|E9PBF7|Q4QRK6	Missense_Mutation	SNP	ENST00000221166.5	37	CCDS6046.1	.	.	.	.	.	.	.	.	.	.	A	3.238	-0.156029	0.06544	.	.	ENSG00000104722	ENST00000221166;ENST00000433454	D;D	0.94232	-1.85;-3.38	3.1	-3.87	0.04218	.	.	.	.	.	T	0.81814	0.4902	N	0.11427	0.14	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.66524	-0.5902	9	0.42905	T	0.14	.	4.4003	0.11383	0.4372:0.3043:0.2585:0.0	.	663	P07197	NFM_HUMAN	G	663;287	ENSP00000221166:E663G;ENSP00000412295:E287G	ENSP00000221166:E663G	E	+	2	0	NEFM	24831261	0.129000	0.22400	0.006000	0.13384	0.302000	0.27658	2.406000	0.44557	-1.328000	0.02261	0.166000	0.16787	GAG	.		0.498	NEFM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254954.2	NM_005382	
DOCK5	80005	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	25191625	25191625	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr8:25191625C>T	ENST00000276440.7	+	21	2149	c.2105C>T	c.(2104-2106)tCa>tTa	p.S702L		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	702					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		TTTATTATTTCACTGATAGGA	0.388																																					p.S702L	Pancreas(145;34 1887 3271 10937 30165)	.											.	DOCK5-71	0			c.C2105T						.						122.0	125.0	124.0					8																	25191625		2203	4300	6503	SO:0001583	missense	80005	exon21			TTATTTCACTGAT		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.2105C>T	8.37:g.25191625C>T	ENSP00000276440:p.Ser702Leu	84	2		60	47	NM_024940	0	0	0	0	0	B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	ENST00000276440.7	37	CCDS6047.1	.	.	.	.	.	.	.	.	.	.	C	18.87	3.715719	0.68844	.	.	ENSG00000147459	ENST00000276440	T	0.19105	2.17	6.04	6.04	0.98038	Armadillo-type fold (1);	0.066979	0.64402	D	0.000006	T	0.32852	0.0843	M	0.71036	2.16	0.51482	D	0.999929	B;B;B	0.29301	0.241;0.157;0.241	B;B;B	0.32533	0.096;0.065;0.147	T	0.05852	-1.0860	10	0.62326	D	0.03	.	20.5792	0.99380	0.0:1.0:0.0:0.0	.	692;477;702	D3DSS6;Q68DL4;Q9H7D0	.;.;DOCK5_HUMAN	L	702	ENSP00000276440:S702L	ENSP00000276440:S702L	S	+	2	0	DOCK5	25247542	0.998000	0.40836	1.000000	0.80357	0.939000	0.58152	3.960000	0.56752	2.873000	0.98535	0.561000	0.74099	TCA	.		0.388	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940	
DOCK5	80005	ucsc.edu;bcgsc.ca	37	8	25261192	25261192	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr8:25261192C>T	ENST00000276440.7	+	48	5089	c.5045C>T	c.(5044-5046)aCc>aTc	p.T1682I		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1682					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GTGGTTTCCACCTCTTCAAAC	0.512																																					p.T1682I	Pancreas(145;34 1887 3271 10937 30165)	.											.	DOCK5-71	0			c.C5045T						.						202.0	163.0	177.0					8																	25261192		2203	4300	6503	SO:0001583	missense	80005	exon48			TTTCCACCTCTTC		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.5045C>T	8.37:g.25261192C>T	ENSP00000276440:p.Thr1682Ile	202	3		164	138	NM_024940	0	0	0	28	28	B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	ENST00000276440.7	37	CCDS6047.1	.	.	.	.	.	.	.	.	.	.	C	10.84	1.464387	0.26335	.	.	ENSG00000147459	ENST00000276440	T	0.04015	3.73	5.81	3.06	0.35304	.	0.436525	0.26808	N	0.022383	T	0.04770	0.0129	L	0.44542	1.39	0.37122	D	0.900865	B	0.02656	0.0	B	0.06405	0.002	T	0.36672	-0.9738	10	0.28530	T	0.3	.	8.1064	0.30887	0.1221:0.6972:0.1174:0.0634	.	1682	Q9H7D0	DOCK5_HUMAN	I	1682	ENSP00000276440:T1682I	ENSP00000276440:T1682I	T	+	2	0	DOCK5	25317109	0.986000	0.35501	1.000000	0.80357	0.247000	0.25773	2.696000	0.47052	0.378000	0.24764	0.655000	0.94253	ACC	.		0.512	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940	
CDCA2	157313	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	25364499	25364499	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr8:25364499G>A	ENST00000330560.3	+	15	2794	c.2317G>A	c.(2317-2319)Gca>Aca	p.A773T	CDCA2_ENST00000380665.3_Missense_Mutation_p.A758T|CDCA2_ENST00000521098.2_3'UTR	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	773					mitotic nuclear division (GO:0007067)|positive regulation of protein dephosphorylation (GO:0035307)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		CTTAGGAGCTGCAGAAGGAAA	0.338																																					p.A773T		.											.	CDCA2-90	0			c.G2317A						.						45.0	45.0	45.0					8																	25364499		2202	4300	6502	SO:0001583	missense	157313	exon15			GGAGCTGCAGAAG	BG354575	CCDS6049.1	8p21.2	2014-06-12			ENSG00000184661	ENSG00000184661			14623	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 81"""					12188893, 16492807	Standard	NM_152562		Approved	Repo-Man, PPP1R81	uc003xep.1	Q69YH5	OTTHUMG00000099429	ENST00000330560.3:c.2317G>A	8.37:g.25364499G>A	ENSP00000328228:p.Ala773Thr	50	0		43	38	NM_152562	0	0	0	6	6	Q3SX74|Q4G0W0|Q5RKN0|Q69YI4|Q6P464|Q8N7C1	Missense_Mutation	SNP	ENST00000330560.3	37	CCDS6049.1	.	.	.	.	.	.	.	.	.	.	G	3.352	-0.132264	0.06753	.	.	ENSG00000184661	ENST00000330560;ENST00000380665;ENST00000434814	T;T	0.28454	1.61;1.61	5.27	-8.74	0.00838	.	2.064090	0.01873	N	0.037351	T	0.10423	0.0255	N	0.02916	-0.46	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.15780	-1.0425	10	0.30078	T	0.28	1.4083	4.3714	0.11249	0.1454:0.4707:0.272:0.1119	.	758;773	E9PEI0;Q69YH5	.;CDCA2_HUMAN	T	773;758;172	ENSP00000328228:A773T;ENSP00000370040:A758T	ENSP00000328228:A773T	A	+	1	0	CDCA2	25420416	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-2.106000	0.01338	-1.171000	0.02765	0.650000	0.86243	GCA	.		0.338	CDCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216891.3	NM_152562	
KIF13B	23303	broad.mit.edu;bcgsc.ca;mdanderson.org	37	8	28929234	28929234	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr8:28929234G>A	ENST00000524189.1	-	39	5159	c.5121C>T	c.(5119-5121)gtC>gtT	p.V1707V	KIF13B_ENST00000404075.3_Silent_p.V226V	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1707					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		CGCCCACGGTGACGAACTCGC	0.701																																					p.V1707V		.											.	KIF13B-22	0			c.C5121T						.						11.0	14.0	13.0					8																	28929234		1852	3816	5668	SO:0001819	synonymous_variant	23303	exon39			CACGGTGACGAAC	AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"""Kinesins"""	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.5121C>T	8.37:g.28929234G>A		93	1		107	87	NM_015254	0	0	0	0	0	B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Silent	SNP	ENST00000524189.1	37	CCDS55217.1																																																																																			.		0.701	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376878.1		
NRG1	3084	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	32620757	32620757	+	Intron	SNP	A	A	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr8:32620757A>T	ENST00000405005.3	+	12	1268				NRG1_ENST00000521670.1_Silent_p.L430L|NRG1_ENST00000287842.3_Intron|NRG1_ENST00000341377.5_Intron|NRG1_ENST00000356819.4_Intron|NRG1_ENST00000338921.4_Intron|RP11-1002K11.1_ENST00000607314.1_lincRNA|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000539990.1_Intron|NRG1_ENST00000519301.1_Intron			Q02297	NRG1_HUMAN	neuregulin 1						activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		TAGCTGAGCTAAGGAGAAACA	0.368																																					p.L430L		.											.	NRG1-525	0			c.A1290T						.						166.0	151.0	156.0					8																	32620757		2203	4300	6503	SO:0001627	intron_variant	3084	exon12			TGAGCTAAGGAGA	L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"""Immunoglobulin superfamily / I-set domain containing"""	7997	protein-coding gene	gene with protein product		142445	"""NRG1 intronic transcript 2 (non-protein coding)"""	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.1269-509A>T	8.37:g.32620757A>T		150	0		106	79	NM_013960	0	0	0	0	0	A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Silent	SNP	ENST00000405005.3	37	CCDS6085.1																																																																																			.		0.368	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472504.1		
GOT1L1	137362	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	37792696	37792696	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr8:37792696G>A	ENST00000307599.4	-	8	1066	c.967C>T	c.(967-969)Cta>Tta	p.L323L	GOT1L1_ENST00000518826.1_Silent_p.L64L	NM_152413.2	NP_689626.2	Q8NHS2	AATC2_HUMAN	glutamic-oxaloacetic transaminase 1-like 1	323					biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)	cytoplasm (GO:0005737)	pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)			central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)			TCCTTGGTTAGCATGATGTTC	0.527																																					p.L323L		.											.	GOT1L1-23	0			c.C967T						.						82.0	79.0	80.0					8																	37792696		1885	4113	5998	SO:0001819	synonymous_variant	137362	exon8			TGGTTAGCATGAT	BC029504	CCDS47839.1	8p12	2005-09-22			ENSG00000169154	ENSG00000169154			28487	protein-coding gene	gene with protein product						12477932	Standard	NM_152413		Approved	MGC33309	uc011lbj.1	Q8NHS2	OTTHUMG00000164027	ENST00000307599.4:c.967C>T	8.37:g.37792696G>A		119	1		62	49	NM_152413	0	0	0	0	0	A8MWL4	Silent	SNP	ENST00000307599.4	37	CCDS47839.1																																																																																			.		0.527	GOT1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376823.1	NM_152413	
STAR	6770	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	38003893	38003893	+	Missense_Mutation	SNP	C	C	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr8:38003893C>A	ENST00000276449.4	-	4	825	c.379G>T	c.(379-381)Gac>Tac	p.D127Y	RP11-90P5.2_ENST00000520598.1_RNA	NM_000349.2	NP_000340.2	P49675	STAR_HUMAN	steroidogenic acute regulatory protein	127	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				bile acid biosynthetic process (GO:0006699)|biphenyl metabolic process (GO:0018879)|brain development (GO:0007420)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to alkaloid (GO:0071312)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth hormone stimulus (GO:0071378)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-alpha (GO:0035457)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to luteinizing hormone stimulus (GO:0071373)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cholesterol metabolic process (GO:0008203)|circadian sleep/wake cycle, REM sleep (GO:0042747)|dibenzo-p-dioxin metabolic process (GO:0018894)|diterpenoid metabolic process (GO:0016101)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|glucocorticoid metabolic process (GO:0008211)|insecticide metabolic process (GO:0017143)|intracellular cholesterol transport (GO:0032367)|male gonad development (GO:0008584)|negative regulation of neuron apoptotic process (GO:0043524)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|positive regulation of gene expression (GO:0010628)|positive regulation of neurogenesis (GO:0050769)|progesterone biosynthetic process (GO:0006701)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of steroid biosynthetic process (GO:0050810)|response to activity (GO:0014823)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to fungicide (GO:0060992)|response to herbicide (GO:0009635)|response to hydrogen peroxide (GO:0042542)|response to ionizing radiation (GO:0010212)|response to lead ion (GO:0010288)|response to leptin (GO:0044321)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	cytosol (GO:0005829)|mitochondrial crista (GO:0030061)|mitochondrial intermembrane space (GO:0005758)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	cholesterol binding (GO:0015485)			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)		READ - Rectum adenocarcinoma(644;0.188)		ATGGGCTGGTCCACCACGACC	0.557																																					p.D127Y		.											.	STAR-91	0			c.G379T						.						94.0	87.0	89.0					8																	38003893		2203	4300	6503	SO:0001583	missense	6770	exon4			GCTGGTCCACCAC	BC010550	CCDS6102.1	8p11.2	2011-09-13	2007-05-15		ENSG00000147465	ENSG00000147465		"""StAR-related lipid transfer (START) domain containing"""	11359	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 1"""	600617	"""steroidogenic acute regulator"""			7761400	Standard	NM_000349		Approved	StAR, STARD1	uc003xkv.1	P49675	OTTHUMG00000164058	ENST00000276449.4:c.379G>T	8.37:g.38003893C>A	ENSP00000276449:p.Asp127Tyr	73	0		48	36	NM_000349	4	6	11	4774	4753	Q16396	Missense_Mutation	SNP	ENST00000276449.4	37	CCDS6102.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.2|22.2	4.263880|4.263880	0.80358|0.80358	.|.	.|.	ENSG00000147465|ENSG00000147465	ENST00000276449;ENST00000522753;ENST00000521236|ENST00000522050	D;D|.	0.85339|.	-1.97;-1.97|.	5.72|5.72	5.72|5.72	0.89469|0.89469	Lipid-binding START (3);START-like domain (1);|.	0.045491|.	0.85682|.	D|.	0.000000|.	T|T	0.79358|0.79358	0.4432|0.4432	M|M	0.86953|0.86953	2.85|2.85	0.58432|0.58432	D|D	0.999999|0.999999	P;P|.	0.50528|.	0.936;0.936|.	P;P|.	0.53912|.	0.737;0.737|.	T|T	0.81556|0.81556	-0.0879|-0.0879	10|5	0.46703|.	T|.	0.11|.	-27.9234|-27.9234	14.0901|14.0901	0.64984|0.64984	0.0:0.9286:0.0:0.0714|0.0:0.9286:0.0:0.0714	.|.	89;127|.	E7ETA9;P49675|.	.;STAR_HUMAN|.	Y|C	127;89;45|105	ENSP00000276449:D127Y;ENSP00000430030:D45Y|.	ENSP00000276449:D127Y|.	D|W	-|-	1|3	0|0	STAR|STAR	38123050|38123050	1.000000|1.000000	0.71417|0.71417	0.978000|0.978000	0.43139|0.43139	0.919000|0.919000	0.55068|0.55068	5.774000|5.774000	0.68906|0.68906	2.691000|2.691000	0.91804|0.91804	0.655000|0.655000	0.94253|0.94253	GAC|TGG	.		0.557	STAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376990.2	NM_000349	
ANK1	286	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	41566384	41566384	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr8:41566384G>A	ENST00000347528.4	-	17	1993	c.1910C>T	c.(1909-1911)aCg>aTg	p.T637M	ANK1_ENST00000396942.1_Missense_Mutation_p.T637M|ANK1_ENST00000289734.7_Missense_Mutation_p.T637M|ANK1_ENST00000265709.8_Missense_Mutation_p.T670M|ANK1_ENST00000379758.2_Missense_Mutation_p.T637M|ANK1_ENST00000396945.1_Missense_Mutation_p.T637M|ANK1_ENST00000352337.4_Missense_Mutation_p.T637M	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	637	89 kDa domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GTGAAGGGGCGTCACACCTTG	0.622																																					p.T670M		.											.	ANK1-716	0			c.C2009T						.						111.0	97.0	102.0					8																	41566384		2203	4300	6503	SO:0001583	missense	286	exon17			AGGGGCGTCACAC	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.1910C>T	8.37:g.41566384G>A	ENSP00000339620:p.Thr637Met	93	0		65	47	NM_001142446	0	0	0	1	1	A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.674835	0.88445	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820	T;T;T;T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91;-0.91;-0.91;-0.91	5.6	5.6	0.85130	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	D	0.90937	0.7151	H	0.95574	3.69	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;0.993;0.989;1.0	D	0.93038	0.6454	10	0.72032	D	0.01	.	19.6194	0.95649	0.0:0.0:1.0:0.0	.	670;637;637;637;637	P16157-21;P16157-4;P16157;P16157-5;P16157-3	.;.;ANK1_HUMAN;.;.	M	637;637;637;637;637;637;670;637	ENSP00000339620:T637M;ENSP00000289734:T637M;ENSP00000369082:T637M;ENSP00000380149:T637M;ENSP00000380147:T637M;ENSP00000309131:T637M;ENSP00000265709:T670M	ENSP00000265709:T670M	T	-	2	0	ANK1	41685541	1.000000	0.71417	0.985000	0.45067	0.695000	0.40330	7.932000	0.87634	2.639000	0.89480	0.555000	0.69702	ACG	.		0.622	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475	
PRKDC	5591	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	48689404	48689404	+	Splice_Site	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr8:48689404C>T	ENST00000523565.1	-	85	12238		c.e85+1		PRKDC_ENST00000314191.2_Splice_Site|PRKDC_ENST00000338368.3_Splice_Site			P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide						B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	AAAAATCTTACCAAGTAATGA	0.388								Non-homologous end-joining																													.	Esophageal Squamous(79;1091 1253 12329 31680 40677)	.											.	PRKDC-1515	0			c.12088+1G>A						.						100.0	92.0	94.0					8																	48689404		1840	4082	5922	SO:0001630	splice_region_variant	5591	exon85			ATCTTACCAAGTA		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000523565.1:c.1270+1G>A	8.37:g.48689404C>T		58	0		31	21	NM_001081640	0	0	0	1	1	P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Splice_Site	SNP	ENST00000523565.1	37		.	.	.	.	.	.	.	.	.	.	C	16.14	3.039989	0.55003	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.959	0.89079	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PRKDC	48851957	1.000000	0.71417	1.000000	0.80357	0.373000	0.29922	7.437000	0.80417	2.749000	0.94314	0.460000	0.39030	.	.		0.388	PRKDC-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000377896.1	NM_001081640	Intron
ST18	9705	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	53044610	53044610	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr8:53044610G>A	ENST00000276480.7	-	22	3257	c.2574C>T	c.(2572-2574)tcC>tcT	p.S858S		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	858					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TCAGTTTCCAGGAGAGGGAGG	0.498																																					p.S858S		.											.	ST18-95	0			c.C2574T						.						150.0	132.0	138.0					8																	53044610		2203	4300	6503	SO:0001819	synonymous_variant	9705	exon22			TTTCCAGGAGAGG	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.2574C>T	8.37:g.53044610G>A		217	0		121	90	NM_014682	0	0	0	0	0	Q17RY1	Silent	SNP	ENST00000276480.7	37	CCDS6149.1																																																																																			.		0.498	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1		
RP1	6101	bcgsc.ca	37	8	55533938	55533938	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr8:55533938C>T	ENST00000220676.1	+	2	560	c.412C>T	c.(412-414)Ccg>Tcg	p.P138S		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	138					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CGCGCACTCACCGCCCCACCC	0.697																																					p.P138S	Colon(91;1014 1389 7634 14542 40420)	.											.	RP1-102	0			c.C412T						.						27.0	33.0	31.0					8																	55533938		2190	4290	6480	SO:0001583	missense	6101	exon2			CACTCACCGCCCC	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.412C>T	8.37:g.55533938C>T	ENSP00000220676:p.Pro138Ser	20	1		39	35	NM_006269	0	0	0	0	0		Missense_Mutation	SNP	ENST00000220676.1	37	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	C	8.116	0.779793	0.16120	.	.	ENSG00000104237	ENST00000220676	T	0.21734	1.99	4.67	3.78	0.43462	.	1.948300	0.02586	N	0.099426	T	0.16854	0.0405	L	0.31294	0.92	0.09310	N	1	B	0.22346	0.068	B	0.15870	0.014	T	0.27468	-1.0073	10	0.16420	T	0.52	12.5193	6.8447	0.23982	0.3102:0.6013:0.0:0.0885	.	138	P56715	RP1_HUMAN	S	138	ENSP00000220676:P138S	ENSP00000220676:P138S	P	+	1	0	RP1	55696491	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.806000	0.27126	0.939000	0.37446	0.650000	0.86243	CCG	.		0.697	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269	
IMPAD1	54928	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	57905818	57905818	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr8:57905818G>A	ENST00000262644.4	-	1	585	c.327C>T	c.(325-327)ggC>ggT	p.G109G		NM_017813.4	NP_060283.3	Q9NX62	IMPA3_HUMAN	inositol monophosphatase domain containing 1	109					chondrocyte development (GO:0002063)|chondroitin sulfate metabolic process (GO:0030204)|embryonic digit morphogenesis (GO:0042733)|endochondral ossification (GO:0001958)|inositol biosynthetic process (GO:0006021)|phosphatidylinositol phosphorylation (GO:0046854)|post-embryonic development (GO:0009791)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'(2'),5'-bisphosphate nucleotidase activity (GO:0008441)|3'-nucleotidase activity (GO:0008254)|inositol monophosphate 1-phosphatase activity (GO:0008934)|inositol monophosphate 3-phosphatase activity (GO:0052832)|inositol monophosphate 4-phosphatase activity (GO:0052833)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448)				ACAGCACGTCGCCGCTGGTCA	0.682																																					p.G109G		.											.	IMPAD1-91	0			c.C327T						.						70.0	60.0	64.0					8																	57905818		2202	4300	6502	SO:0001819	synonymous_variant	54928	exon1			CACGTCGCCGCTG		CCDS6169.1	8q12.1	2013-05-16			ENSG00000104331	ENSG00000104331			26019	protein-coding gene	gene with protein product		614010				21549340	Standard	NM_017813		Approved	FLJ20421, IMPA3, gPAPP	uc003xte.4	Q9NX62	OTTHUMG00000164415	ENST00000262644.4:c.327C>T	8.37:g.57905818G>A		36	0		29	21	NM_017813	0	0	2	32	30	Q6NVY7	Silent	SNP	ENST00000262644.4	37	CCDS6169.1																																																																																			.		0.682	IMPAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378665.1	NM_017813	
SGK3	23678	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	67755735	67755735	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr8:67755735G>A	ENST00000396596.1	+	14	1241	c.1027G>A	c.(1027-1029)Gat>Aat	p.D343N	SGK3_ENST00000521198.2_Missense_Mutation_p.D343N|SGK3_ENST00000522398.1_Missense_Mutation_p.D343N|SGK3_ENST00000345714.4_Missense_Mutation_p.D343N|C8orf44-SGK3_ENST00000519289.1_Missense_Mutation_p.D343N|SGK3_ENST00000521435.1_3'UTR|SGK3_ENST00000520976.1_Intron	NM_013257.4	NP_037389.4	Q96BR1	SGK3_HUMAN	serum/glucocorticoid regulated kinase family, member 3	343	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ion transmembrane transport (GO:0034220)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to stress (GO:0006950)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|phosphatidylinositol binding (GO:0035091)|potassium channel regulator activity (GO:0015459)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	18	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)			CAATACTGTAGATTGGTGGTG	0.333																																					p.D343N		.											.	SGK3-1003	0			c.G1027A						.						179.0	168.0	172.0					8																	67755735		2203	4300	6503	SO:0001583	missense	23678	exon14			ACTGTAGATTGGT		CCDS6195.1, CCDS6196.1	8q12	2008-07-28	2005-09-13	2005-09-13		ENSG00000104205			10812	protein-coding gene	gene with protein product		607591	"""serum/glucocorticoid regulated kinase-like"""	SGK2, SGKL		10585774, 10548550	Standard	NM_013257		Approved		uc003xwr.3	Q96BR1		ENST00000396596.1:c.1027G>A	8.37:g.67755735G>A	ENSP00000379842:p.Asp343Asn	97	0		78	60	NM_001033578	0	0	0	7	7	A8K5W3|B3KQC2|Q9P1Q7|Q9UKG5	Missense_Mutation	SNP	ENST00000396596.1	37	CCDS6195.1	.	.	.	.	.	.	.	.	.	.	G	35	5.508319	0.96386	.	.	ENSG00000104205	ENST00000519289;ENST00000521198;ENST00000262211;ENST00000522398;ENST00000396596;ENST00000345714	T;T;T;T;T	0.55760	0.5;0.5;0.5;0.5;0.5	4.97	4.97	0.65823	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.102733	0.64402	D	0.000004	D	0.85813	0.5784	H	0.99770	4.765	0.48087	D	0.999586	D	0.89917	1.0	D	0.91635	0.999	D	0.92693	0.6168	9	0.87932	D	0	.	18.5706	0.91133	0.0:0.0:1.0:0.0	.	343	Q96BR1	SGK3_HUMAN	N	343	ENSP00000429022:D343N;ENSP00000430463:D343N;ENSP00000430256:D343N;ENSP00000379842:D343N;ENSP00000331816:D343N	ENSP00000262211:D343N	D	+	1	0	SGK3	67918289	1.000000	0.71417	0.973000	0.42090	0.976000	0.68499	9.799000	0.99117	2.441000	0.82636	0.555000	0.69702	GAT	.		0.333	SGK3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379232.3		
PRDM14	63978	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	70981595	70981595	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr8:70981595G>A	ENST00000276594.2	-	2	702	c.501C>T	c.(499-501)tcC>tcT	p.S167S		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	167					cell fate specification (GO:0001708)|cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|germ cell development (GO:0007281)|germ-line stem cell maintenance (GO:0030718)|histone H3-R26 methylation (GO:0034972)|homeostasis of number of cells within a tissue (GO:0048873)|inner cell mass cell fate commitment (GO:0001827)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|regulation of DNA methylation (GO:0044030)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			GTAATAACTGGGAGGTCCTCA	0.577																																					p.S167S	NSCLC(129;99 1813 5906 40656 46114)	.											.	PRDM14-93	0			c.C501T						.						73.0	72.0	72.0					8																	70981595		2203	4300	6503	SO:0001819	synonymous_variant	63978	exon2			TAACTGGGAGGTC	AF319458	CCDS6206.1	8q13.3	2013-01-08			ENSG00000147596	ENSG00000147596		"""Zinc fingers, C2H2-type"""	14001	protein-coding gene	gene with protein product		611781					Standard	NM_024504		Approved		uc003xym.3	Q9GZV8	OTTHUMG00000150495	ENST00000276594.2:c.501C>T	8.37:g.70981595G>A		194	0		140	114	NM_024504	0	0	0	0	0	Q86UX9	Silent	SNP	ENST00000276594.2	37	CCDS6206.1																																																																																			.		0.577	PRDM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318505.1		
NCOA2	10499	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	71057034	71057034	+	Silent	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr8:71057034C>T	ENST00000452400.2	-	13	2836	c.2655G>A	c.(2653-2655)caG>caA	p.Q885Q	NCOA2_ENST00000267974.4_Intron	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	885					cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			GTGGTAAATTCTGGTTTGGCA	0.423			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""																																p.Q885Q		.		Dom	yes		8	8q13.1	10499	nuclear receptor coactivator 2 (TIF2)		L	.	NCOA2-639	0			c.G2655A						.						180.0	170.0	173.0					8																	71057034		1892	4108	6000	SO:0001819	synonymous_variant	10499	exon13			TAAATTCTGGTTT	X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.2655G>A	8.37:g.71057034C>T		212	1		116	91	NM_006540	0	0	1	9	8	Q14CD2	Silent	SNP	ENST00000452400.2	37	CCDS47872.1																																																																																			.		0.423	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1		
TRPA1	8989	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	72977700	72977700	+	Missense_Mutation	SNP	C	C	T	rs567896348		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr8:72977700C>T	ENST00000262209.4	-	4	745	c.538G>A	c.(538-540)Gca>Aca	p.A180T		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	180					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	ATCTGCAATGCTTCGCTATTA	0.318													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17356	0.0		0.0	False		,,,				2504	0.0				p.A180T		.											.	TRPA1-230	0			c.G538A						.						116.0	99.0	105.0					8																	72977700		2202	4298	6500	SO:0001583	missense	8989	exon4			GCAATGCTTCGCT	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.538G>A	8.37:g.72977700C>T	ENSP00000262209:p.Ala180Thr	164	0		98	84	NM_007332	0	0	0	0	0	A6NIN6	Missense_Mutation	SNP	ENST00000262209.4	37	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.696202	0.88830	.	.	ENSG00000104321	ENST00000523582;ENST00000262209	T;T	0.65732	-0.17;-0.09	5.39	4.52	0.55395	Ankyrin repeat-containing domain (3);	0.095413	0.64402	D	0.000001	T	0.65059	0.2655	L	0.41356	1.27	0.51767	D	0.999938	D	0.54047	0.964	P	0.54431	0.752	T	0.65615	-0.6125	10	0.44086	T	0.13	-6.7089	14.2231	0.65841	0.0:0.9278:0.0:0.0722	.	180	O75762	TRPA1_HUMAN	T	32;180	ENSP00000428151:A32T;ENSP00000262209:A180T	ENSP00000262209:A180T	A	-	1	0	TRPA1	73140254	1.000000	0.71417	0.972000	0.41901	0.906000	0.53458	3.998000	0.57024	1.413000	0.46997	0.650000	0.86243	GCA	.		0.318	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332	
KCNB2	9312	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	73848647	73848647	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr8:73848647G>A	ENST00000523207.1	+	3	1645	c.1057G>A	c.(1057-1059)Gta>Ata	p.V353I		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	353					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	TTCCAGCCTGGTATTTTTTGC	0.468																																					p.V353I		.											.	KCNB2-158	0			c.G1057A						.						119.0	123.0	122.0					8																	73848647		2203	4300	6503	SO:0001583	missense	9312	exon3			AGCCTGGTATTTT	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.1057G>A	8.37:g.73848647G>A	ENSP00000430846:p.Val353Ile	135	0		96	68	NM_004770	0	0	0	0	0	Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.824786	0.90955	.	.	ENSG00000182674	ENST00000523207	D	0.97303	-4.33	5.58	5.58	0.84498	Ion transport (1);	0.000000	0.41097	D	0.000948	D	0.96568	0.8880	L	0.31526	0.94	0.58432	D	0.99999	P	0.49696	0.927	P	0.55667	0.781	D	0.96282	0.9207	10	0.41790	T	0.15	.	19.5713	0.95421	0.0:0.0:1.0:0.0	.	353	Q92953	KCNB2_HUMAN	I	353	ENSP00000430846:V353I	ENSP00000430846:V353I	V	+	1	0	KCNB2	74011201	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	9.869000	0.99810	2.626000	0.88956	0.655000	0.94253	GTA	.		0.468	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770	
WWP1	11059	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	87443898	87443898	+	Missense_Mutation	SNP	A	A	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr8:87443898A>C	ENST00000517970.1	+	14	1834	c.1527A>C	c.(1525-1527)gaA>gaC	p.E509D	WWP1_ENST00000265428.4_Missense_Mutation_p.E509D|WWP1_ENST00000341922.2_Missense_Mutation_p.E379D|WWP1_ENST00000349423.2_Missense_Mutation_p.E291D	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	509	WW 4. {ECO:0000255|PROSITE- ProRule:PRU00224}.				central nervous system development (GO:0007417)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						ATACTCGTGAAGGTGTAAGGT	0.383																																					p.E509D		.											.	WWP1-659	0			c.A1527C						.						108.0	108.0	108.0					8																	87443898		2203	4300	6503	SO:0001583	missense	11059	exon14			TCGTGAAGGTGTA	AY043361	CCDS6242.1	8q21.3	2013-07-22			ENSG00000123124	ENSG00000123124			17004	protein-coding gene	gene with protein product		602307				9169421, 9647693	Standard	NM_007013		Approved	AIP5, DKFZP434D2111	uc003ydt.3	Q9H0M0	OTTHUMG00000163690	ENST00000517970.1:c.1527A>C	8.37:g.87443898A>C	ENSP00000427793:p.Glu509Asp	250	0		141	112	NM_007013	0	0	1	18	17	O00307|Q5YLC1|Q96BP4	Missense_Mutation	SNP	ENST00000517970.1	37	CCDS6242.1	.	.	.	.	.	.	.	.	.	.	A	12.47	1.946962	0.34377	.	.	ENSG00000123124	ENST00000517970;ENST00000265428;ENST00000341922;ENST00000349423	T;T;T;T	0.81163	-1.46;-1.46;-1.46;-1.46	5.35	2.9	0.33743	WW/Rsp5/WWP (6);	0.055725	0.64402	N	0.000001	T	0.54271	0.1848	N	0.05199	-0.095	0.51482	D	0.999924	B;B	0.12630	0.001;0.006	B;B	0.20184	0.008;0.028	T	0.46952	-0.9154	10	0.02654	T	1	.	7.0929	0.25293	0.7961:0.0:0.0722:0.1317	.	291;509	Q9H0M0-6;Q9H0M0	.;WWP1_HUMAN	D	509;509;379;291	ENSP00000427793:E509D;ENSP00000265428:E509D;ENSP00000340564:E379D;ENSP00000342665:E291D	ENSP00000265428:E509D	E	+	3	2	WWP1	87513014	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.140000	0.42159	0.318000	0.23185	0.460000	0.39030	GAA	.		0.383	WWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374755.1	NM_007013	
DCAF4L2	138009	broad.mit.edu;bcgsc.ca	37	8	88885852	88885852	+	Silent	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr8:88885852C>T	ENST00000319675.3	-	1	444	c.348G>A	c.(346-348)ccG>ccA	p.P116P		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	116										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GGGTTTTGTGCGGGTATACCC	0.552																																					p.P116P		.											.	DCAF4L2-91	0			c.G348A						.						128.0	124.0	125.0					8																	88885852		2203	4300	6503	SO:0001819	synonymous_variant	138009	exon1			TTTGTGCGGGTAT	AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"""WD repeat domain containing"""	26657	protein-coding gene	gene with protein product			"""WD repeat domain 21C"""	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.348G>A	8.37:g.88885852C>T		124	1		93	9	NM_152418	0	0	0	0	0		Silent	SNP	ENST00000319675.3	37	CCDS6245.1																																																																																			.		0.552	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418	
OSGIN2	734	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	90937358	90937358	+	Silent	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr8:90937358A>G	ENST00000297438.2	+	6	1471	c.1116A>G	c.(1114-1116)ttA>ttG	p.L372L	OSGIN2_ENST00000451899.2_Silent_p.L416L	NM_004337.2	NP_004328.1	Q9Y236	OSGI2_HUMAN	oxidative stress induced growth inhibitor family member 2	372					meiotic nuclear division (GO:0007126)					breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(1)	17			BRCA - Breast invasive adenocarcinoma(11;0.0344)			CAAATCTTTTATCTGATTATA	0.363																																					p.L416L		.											.	OSGIN2-68	0			c.A1248G						.						119.0	125.0	123.0					8																	90937358		2201	4300	6501	SO:0001819	synonymous_variant	734	exon6			TCTTTTATCTGAT	AF061326	CCDS6248.1, CCDS47888.1	8q21	2006-10-05	2006-10-05	2006-10-05	ENSG00000164823	ENSG00000164823			1355	protein-coding gene	gene with protein product		604598	"""chromosome 8 open reading frame 1"""	C8orf1		9933573	Standard	NM_004337		Approved	hT41	uc003yeh.3	Q9Y236	OTTHUMG00000163811	ENST00000297438.2:c.1116A>G	8.37:g.90937358A>G		78	0		41	30	NM_001126111	0	0	2	9	7		Silent	SNP	ENST00000297438.2	37	CCDS6248.1																																																																																			.		0.363	OSGIN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375691.1	NM_004337	
RUNX1T1	862	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	93023263	93023263	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr8:93023263G>A	ENST00000523629.1	-	5	979	c.525C>T	c.(523-525)ttC>ttT	p.F175F	RUNX1T1_ENST00000520724.1_Silent_p.F138F|RUNX1T1_ENST00000265814.3_Silent_p.F175F|RUNX1T1_ENST00000422361.2_Silent_p.F138F|RUNX1T1_ENST00000518844.1_Silent_p.F148F|RUNX1T1_ENST00000360348.2_Silent_p.F138F|RUNX1T1_ENST00000521553.1_Silent_p.F138F|RUNX1T1_ENST00000436581.2_Silent_p.F186F|RUNX1T1_ENST00000396218.1_Silent_p.F148F	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	175	TAFH. {ECO:0000255|PROSITE- ProRule:PRU00440}.				fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			GTCTCAGTGGGAAGTTAGTAG	0.358																																					p.F234F		.											.	RUNX1T1-1196	0			c.C702T						.						141.0	137.0	139.0					8																	93023263		2203	4300	6503	SO:0001819	synonymous_variant	862	exon5			CAGTGGGAAGTTA	D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.525C>T	8.37:g.93023263G>A		120	0		62	42	NM_001198679	0	0	0	0	0	B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Silent	SNP	ENST00000523629.1	37	CCDS6256.1																																																																																			.		0.358	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635	
RUNX1T1	862	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	93029539	93029539	+	Silent	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr8:93029539C>T	ENST00000523629.1	-	3	595	c.141G>A	c.(139-141)acG>acA	p.T47T	RUNX1T1_ENST00000520724.1_Silent_p.T10T|RUNX1T1_ENST00000265814.3_Silent_p.T47T|RUNX1T1_ENST00000422361.2_Silent_p.T10T|RUNX1T1_ENST00000518844.1_Silent_p.T20T|RUNX1T1_ENST00000360348.2_Silent_p.T10T|RUNX1T1_ENST00000521553.1_Silent_p.T10T|RUNX1T1_ENST00000522163.1_5'Flank|RUNX1T1_ENST00000436581.2_Silent_p.T58T|RUNX1T1_ENST00000396218.1_Silent_p.T20T	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	47					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			GCCTAGATTGCGTCTTCACAT	0.478																																					p.T106T		.											.	RUNX1T1-1196	0			c.G318A						.						191.0	153.0	166.0					8																	93029539		2203	4300	6503	SO:0001819	synonymous_variant	862	exon3			AGATTGCGTCTTC	D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.141G>A	8.37:g.93029539C>T		143	1		107	79	NM_001198679	0	0	0	0	0	B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Silent	SNP	ENST00000523629.1	37	CCDS6256.1																																																																																			.		0.478	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635	
RNF19A	25897	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	101299882	101299882	+	Missense_Mutation	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr8:101299882A>G	ENST00000519449.1	-	3	837	c.521T>C	c.(520-522)aTt>aCt	p.I174T	RNF19A_ENST00000341084.2_Missense_Mutation_p.I174T	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	174					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			TGGGCAACTAATATTAACTCT	0.338																																					p.I174T		.											.	RNF19A-229	0			c.T521C						.						113.0	118.0	116.0					8																	101299882		2203	4300	6503	SO:0001583	missense	25897	exon3			CAACTAATATTAA	AB029316	CCDS6286.1	8q22	2013-10-03	2013-10-03	2007-08-20		ENSG00000034677		"""RING-type (C3HC4) zinc fingers"""	13432	protein-coding gene	gene with protein product		607119	"""ring finger protein 19"", ""ring finger protein 19A"", ""ring finger protein 19A, E3 ubiquitin protein ligase"""	RNF19		11237715, 10976766	Standard	NM_183419		Approved	dorfin, DKFZp566B1346	uc003yjj.1	Q9NV58		ENST00000519449.1:c.521T>C	8.37:g.101299882A>G	ENSP00000428968:p.Ile174Thr	61	0		50	42	NM_015435	0	0	1	9	8	A3KCU9|Q52LG1|Q9H5H9|Q9H8M8|Q9UFG0|Q9UFX6|Q9Y4Y1	Missense_Mutation	SNP	ENST00000519449.1	37	CCDS6286.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.245390	0.80024	.	.	ENSG00000034677	ENST00000519449;ENST00000341084	D;D	0.87029	-2.2;-2.2	5.57	5.57	0.84162	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.000000	0.85682	D	0.000000	D	0.94644	0.8273	M	0.91510	3.215	0.80722	D	1	D	0.67145	0.996	D	0.72338	0.977	D	0.95700	0.8748	10	0.87932	D	0	.	15.4136	0.74945	1.0:0.0:0.0:0.0	.	174	Q9NV58	RN19A_HUMAN	T	174	ENSP00000428968:I174T;ENSP00000342667:I174T	ENSP00000342667:I174T	I	-	2	0	RNF19A	101369058	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.339000	0.96797	2.107000	0.64212	0.528000	0.53228	ATT	.		0.338	RNF19A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380004.1	NM_015435	
PKHD1L1	93035	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	110457219	110457219	+	Nonsense_Mutation	SNP	T	T	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr8:110457219T>A	ENST00000378402.5	+	38	5225	c.5121T>A	c.(5119-5121)taT>taA	p.Y1707*		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1707	IPT/TIG 9.				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)			CAGTGAATTATACGGCCATTG	0.463										HNSCC(38;0.096)																											p.Y1707X		.											.	PKHD1L1-145	0			c.T5121A						.						196.0	188.0	190.0					8																	110457219		1890	4119	6009	SO:0001587	stop_gained	93035	exon38			GAATTATACGGCC	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.5121T>A	8.37:g.110457219T>A	ENSP00000367655:p.Tyr1707*	141	1		80	56	NM_177531	0	0	0	0	0	Q567P2|Q9UF27	Nonsense_Mutation	SNP	ENST00000378402.5	37	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	T	40	8.324177	0.98759	.	.	ENSG00000205038	ENST00000378402	.	.	.	6.17	-11.8	0.00035	.	0.068202	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	25.3074	0.99993	0.0:0.8378:0.0:0.1622	.	.	.	.	X	1707	.	ENSP00000367655:Y1707X	Y	+	3	2	PKHD1L1	110526395	0.038000	0.19896	0.186000	0.23195	0.138000	0.21146	-1.246000	0.02896	-2.238000	0.00712	-0.256000	0.11100	TAT	.		0.463	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531	
CSMD3	114788	ucsc.edu	37	8	113418864	113418864	+	Missense_Mutation	SNP	C	C	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr8:113418864C>G	ENST00000297405.5	-	35	5942	c.5698G>C	c.(5698-5700)Gtt>Ctt	p.V1900L	CSMD3_ENST00000455883.2_Missense_Mutation_p.V1796L|CSMD3_ENST00000343508.3_Missense_Mutation_p.V1860L|CSMD3_ENST00000352409.3_Missense_Mutation_p.V1830L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1900	Sushi 10. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCAAAAAGAACCGATGAACCG	0.423										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																											p.V1900L		.											.	CSMD3-1132	0			c.G5698C						.						123.0	117.0	119.0					8																	113418864		2203	4300	6503	SO:0001583	missense	114788	exon35			AAAGAACCGATGA	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.5698G>C	8.37:g.113418864C>G	ENSP00000297405:p.Val1900Leu	81	0		42	4	NM_198123	0	0	0	0	0	Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.241511	0.79912	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32;-0.32	4.91	3.1	0.35709	Complement control module (2);Sushi/SCR/CCP (3);	0.084158	0.47455	D	0.000222	T	0.79656	0.4483	M	0.78223	2.4	0.40487	D	0.980504	P;D;D	0.56746	0.92;0.977;0.969	P;D;D	0.74348	0.615;0.983;0.918	T	0.80777	-0.1231	10	0.56958	D	0.05	.	11.6084	0.51045	0.0:0.8535:0.0:0.1465	.	1796;1900;1860	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	L	1860;1900;1170;1796;1830	ENSP00000345799:V1860L;ENSP00000297405:V1900L;ENSP00000341558:V1170L;ENSP00000412263:V1796L;ENSP00000343124:V1830L	ENSP00000297405:V1900L	V	-	1	0	CSMD3	113488040	1.000000	0.71417	0.985000	0.45067	0.981000	0.71138	5.862000	0.69560	0.773000	0.33404	0.655000	0.94253	GTT	.		0.423	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	
CSMD3	114788	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	114110996	114110996	+	Silent	SNP	T	T	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr8:114110996T>A	ENST00000297405.5	-	5	1150	c.906A>T	c.(904-906)ccA>ccT	p.P302P	CSMD3_ENST00000455883.2_Silent_p.P302P|CSMD3_ENST00000343508.3_Silent_p.P262P|CSMD3_ENST00000352409.3_Silent_p.P302P|CSMD3_ENST00000519485.1_5'UTR	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	302	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATATGGTAGGTGGCTCAGAAC	0.363										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																											p.P302P		.											.	CSMD3-1132	0			c.A906T						.						93.0	94.0	94.0					8																	114110996		2203	4300	6503	SO:0001819	synonymous_variant	114788	exon5			GGTAGGTGGCTCA	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.906A>T	8.37:g.114110996T>A		63	0		60	49	NM_052900	0	0	0	0	0	Q96PZ3	Silent	SNP	ENST00000297405.5	37	CCDS6315.1																																																																																			.		0.363	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	
KIAA0196	9897	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	126067843	126067843	+	Missense_Mutation	SNP	C	C	A	rs397515564		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr8:126067843C>A	ENST00000318410.7	-	17	2436	c.2087G>T	c.(2086-2088)gGc>gTc	p.G696V	KIAA0196_ENST00000517845.1_Missense_Mutation_p.G548V	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	696			G -> A (in SPG8). {ECO:0000269|PubMed:23455931}.		cell death (GO:0008219)|endosomal transport (GO:0016197)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|WASH complex (GO:0071203)				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			CTTGATGATGCCAACCAAAGT	0.388																																					p.G696V		.											.	KIAA0196-92	0			c.G2087T						.						142.0	135.0	137.0					8																	126067843		2203	4300	6503	SO:0001583	missense	9897	exon17			ATGATGCCAACCA		CCDS6355.1	8q24.13	2014-05-09			ENSG00000164961	ENSG00000164961			28984	protein-coding gene	gene with protein product	"""strumpellin"""	610657	"""spastic paraplegia 8 (autosomal dominant)"""	SPG8		9973294, 17160902, 23085491	Standard	NM_014846		Approved		uc003yrt.3	Q12768	OTTHUMG00000164991	ENST00000318410.7:c.2087G>T	8.37:g.126067843C>A	ENSP00000318016:p.Gly696Val	99	0		47	37	NM_014846	0	0	0	0	0	A8K4R7|Q3KQX5|Q8TBQ2	Missense_Mutation	SNP	ENST00000318410.7	37	CCDS6355.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.5|20.5	4.004265|4.004265	0.74932|0.74932	.|.	.|.	ENSG00000164961|ENSG00000164961	ENST00000523273|ENST00000318410;ENST00000517845	.|D;D	.|0.96587	.|-4.06;-4.06	5.1|5.1	4.22|4.22	0.49857|0.49857	.|.	.|0.094116	.|0.64402	.|N	.|0.000001	D|D	0.98242|0.98242	0.9418|0.9418	M|M	0.88450|0.88450	2.955|2.955	0.80722|0.80722	D|D	1|1	.|D;B	.|0.89917	.|1.0;0.006	.|D;B	.|0.97110	.|1.0;0.019	D|D	0.99035|0.99035	1.0822|1.0822	5|10	.|0.87932	.|D	.|0	-15.6193|-15.6193	14.9039|14.9039	0.70703|0.70703	0.1445:0.8555:0.0:0.0|0.1445:0.8555:0.0:0.0	.|.	.|548;696	.|E7EQI7;Q12768	.|.;STRUM_HUMAN	S|V	313|696;548	.|ENSP00000318016:G696V;ENSP00000429676:G548V	.|ENSP00000318016:G696V	A|G	-|-	1|2	0|0	KIAA0196|KIAA0196	126137025|126137025	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.934000|0.934000	0.57294|0.57294	7.811000|7.811000	0.86092|0.86092	1.118000|1.118000	0.41863|0.41863	-0.182000|-0.182000	0.12963|0.12963	GCA|GGC	.		0.388	KIAA0196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381369.1	NM_014846	
TG	7038	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	133900673	133900673	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr8:133900673G>A	ENST00000220616.4	+	10	2661	c.2621G>A	c.(2620-2622)gGc>gAc	p.G874D	TG_ENST00000377869.1_Missense_Mutation_p.G874D	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	874	Thyroglobulin type-1 7. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		ATCTTAAATGGCCAACTCAGC	0.542																																					p.G874D		.											.	TG-145	0			c.G2621A						.						48.0	49.0	49.0					8																	133900673		2203	4300	6503	SO:0001583	missense	7038	exon10			TAAATGGCCAACT	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.2621G>A	8.37:g.133900673G>A	ENSP00000220616:p.Gly874Asp	128	0		100	80	NM_003235	0	0	0	1	1	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	G	9.881	1.201571	0.22121	.	.	ENSG00000042832	ENST00000377869;ENST00000220616	T;T	0.64085	-0.08;-0.07	5.78	4.91	0.64330	Thyroglobulin type-1 (2);	0.172300	0.41396	D	0.000881	T	0.57095	0.2030	M	0.69823	2.125	0.25390	N	0.988539	B	0.33549	0.417	B	0.28638	0.092	T	0.54689	-0.8256	10	0.40728	T	0.16	.	10.1549	0.42816	0.1673:0.0:0.8327:0.0	.	874	P01266	THYG_HUMAN	D	874	ENSP00000367100:G874D;ENSP00000220616:G874D	ENSP00000220616:G874D	G	+	2	0	TG	133969855	0.993000	0.37304	0.966000	0.40874	0.035000	0.12851	3.035000	0.49759	1.441000	0.47550	0.637000	0.83480	GGC	.		0.542	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235	
SLA	6503	broad.mit.edu;bcgsc.ca	37	8	134060153	134060153	+	Missense_Mutation	SNP	C	C	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr8:134060153C>G	ENST00000338087.5	-	6	1093	c.274G>C	c.(274-276)Gac>Cac	p.D92H	SLA_ENST00000427060.2_Missense_Mutation_p.D132H|TG_ENST00000220616.4_Intron|TG_ENST00000519543.1_Intron|SLA_ENST00000517648.1_Missense_Mutation_p.D109H|SLA_ENST00000518565.1_5'Flank|TG_ENST00000542445.1_Intron|TG_ENST00000377869.1_Intron|SLA_ENST00000395352.3_Missense_Mutation_p.D109H|SLA_ENST00000524345.1_5'UTR	NM_001045556.2	NP_001039021.1	Q13239	SLAP1_HUMAN	Src-like-adaptor	92	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				positive regulation of signal transduction (GO:0009967)	endosome (GO:0005768)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	BRCA - Breast invasive adenocarcinoma(115;0.000701)			TCGGCCTTGTCTCTGCCCAGG	0.592																																					p.D132H		.											.	SLA-279	0			c.G394C						.						52.0	52.0	52.0					8																	134060153		2203	4300	6503	SO:0001583	missense	6503	exon4			CCTTGTCTCTGCC		CCDS6370.1, CCDS47922.1, CCDS47923.1, CCDS64977.1, CCDS64978.1	8q24.22	2013-09-19	2001-11-28		ENSG00000155926	ENSG00000155926		"""SH2 domain containing"""	10902	protein-coding gene	gene with protein product		601099	"""Src-like-adapter"""			8825655, 11179692	Standard	NM_001045556		Approved	SLA1	uc011ljd.2	Q13239	OTTHUMG00000164439	ENST00000338087.5:c.274G>C	8.37:g.134060153C>G	ENSP00000337548:p.Asp92His	75	2		57	45	NM_006748	0	0	2	2	0	B7Z4J2|B7Z4L6|Q6FI01|Q9UMQ8	Missense_Mutation	SNP	ENST00000338087.5	37	CCDS6370.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.995675	0.74703	.	.	ENSG00000155926	ENST00000338087;ENST00000427060;ENST00000395352;ENST00000517648;ENST00000522119	D;D;D;D;D	0.88509	-2.39;-2.39;-2.39;-2.39;-2.39	5.6	5.6	0.85130	SH2 motif (5);	0.142143	0.64402	D	0.000005	D	0.90061	0.6896	N	0.17723	0.515	0.39395	D	0.966488	D;D;D;P;D	0.71674	0.998;0.991;0.991;0.916;0.991	D;P;P;P;P	0.68353	0.957;0.823;0.823;0.726;0.823	D	0.91646	0.5331	10	0.66056	D	0.02	-43.6973	17.4647	0.87629	0.0:1.0:0.0:0.0	.	109;92;92;92;92	B7Z4J2;Q6FI01;Q5TZW1;E5RJ69;Q13239	.;.;.;.;SLAP1_HUMAN	H	92;132;109;109;92	ENSP00000337548:D92H;ENSP00000394049:D132H;ENSP00000378759:D109H;ENSP00000428559:D109H;ENSP00000430596:D92H	ENSP00000337548:D92H	D	-	1	0	SLA	134129335	1.000000	0.71417	0.997000	0.53966	0.940000	0.58332	3.494000	0.53273	2.793000	0.96121	0.563000	0.77884	GAC	.		0.592	SLA-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378771.1		
TG	7038	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	134146920	134146920	+	Splice_Site	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr8:134146920A>G	ENST00000220616.4	+	48	8229	c.8189A>G	c.(8188-8190)gAt>gGt	p.D2730G	TG_ENST00000519543.1_Splice_Site_p.D863G|TG_ENST00000542445.1_Splice_Site_p.D1100G|TG_ENST00000377869.1_Splice_Site_p.D2673G	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2730					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TCTGTTTCAGATGGAGCCAAG	0.557																																					p.D2730G		.											.	TG-145	0			c.A8189G						.						82.0	73.0	76.0					8																	134146920		2203	4300	6503	SO:0001630	splice_region_variant	7038	exon48			TTTCAGATGGAGC	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.8189-1A>G	8.37:g.134146920A>G		69	0		46	31	NM_003235	0	0	0	0	0	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	A	5.096	0.203381	0.09704	.	.	ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616;ENST00000535932;ENST00000542445;ENST00000519543;ENST00000521107	T;T;T;T;T	0.69435	-0.19;-0.19;-0.39;-0.4;0.7	4.39	-0.769	0.11009	.	0.917541	0.09221	N	0.831957	T	0.39835	0.1093	N	0.11201	0.11	0.23773	N	0.996885	B;B;B	0.11235	0.0;0.004;0.0	B;B;B	0.08055	0.001;0.003;0.001	T	0.18398	-1.0338	9	.	.	.	.	4.3376	0.11094	0.3932:0.398:0.2088:0.0	.	863;1100;2730	E7EVM0;F5GWW5;P01266	.;.;THYG_HUMAN	G	2673;1536;2730;849;1100;863;134	ENSP00000367100:D2673G;ENSP00000220616:D2730G;ENSP00000441693:D1100G;ENSP00000430430:D863G;ENSP00000430161:D134G	.	D	+	2	0	TG	134216102	0.923000	0.31300	0.328000	0.25416	0.153000	0.21895	-0.100000	0.10990	0.003000	0.14656	0.402000	0.26972	GAT	.		0.557	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235	Missense_Mutation
ZFAT	57623	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	135621018	135621018	+	Missense_Mutation	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr8:135621018A>G	ENST00000377838.3	-	5	913	c.739T>C	c.(739-741)Tac>Cac	p.Y247H	ZFAT_ENST00000523399.1_Missense_Mutation_p.Y185H|ZFAT_ENST00000520356.1_Missense_Mutation_p.Y235H|ZFAT_ENST00000429442.2_Missense_Mutation_p.Y235H|ZFAT_ENST00000520727.1_Missense_Mutation_p.Y235H|ZFAT_ENST00000520214.1_Missense_Mutation_p.Y235H	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	247					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			TGAATGGCGTATTCCTGGTAG	0.502																																					p.Y247H		.											.	ZFAT-90	0			c.T739C						.						122.0	118.0	119.0					8																	135621018		1955	4149	6104	SO:0001583	missense	57623	exon5			TGGCGTATTCCTG	BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"""Zinc fingers, C2H2-type"""	19899	protein-coding gene	gene with protein product		610931	"""zinc finger protein 406"""	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.739T>C	8.37:g.135621018A>G	ENSP00000367069:p.Tyr247His	129	0		119	99	NM_020863	0	0	0	3	3	B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Missense_Mutation	SNP	ENST00000377838.3	37	CCDS47924.1	.	.	.	.	.	.	.	.	.	.	A	26.1	4.704925	0.88924	.	.	ENSG00000066827	ENST00000520356;ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000318135;ENST00000523399;ENST00000398946;ENST00000522257	T;T;T;T;T;T;T	0.62788	2.96;2.88;2.9;2.88;2.88;2.96;-0.0	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.70150	0.3191	L	0.29908	0.895	0.53688	D	0.999973	P;D;D;D	0.89917	0.92;0.999;1.0;0.999	P;D;D;D	0.91635	0.741;0.996;0.999;0.996	T	0.72200	-0.4362	10	0.54805	T	0.06	-26.6284	15.579	0.76418	1.0:0.0:0.0:0.0	.	185;235;235;247	E9PER3;E9PBN4;Q9P243-3;Q9P243	.;.;.;ZFAT_HUMAN	H	235;235;235;247;235;235;185;235;185	ENSP00000427879:Y235H;ENSP00000427831:Y235H;ENSP00000394501:Y235H;ENSP00000367069:Y247H;ENSP00000428483:Y235H;ENSP00000429091:Y185H;ENSP00000429983:Y185H	ENSP00000326997:Y235H	Y	-	1	0	ZFAT	135690200	1.000000	0.71417	0.858000	0.33744	0.972000	0.66771	6.974000	0.76122	2.279000	0.76181	0.459000	0.35465	TAC	.		0.502	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939	
PTK2	5747	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	141749130	141749130	+	Silent	SNP	G	G	A	rs370124116		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr8:141749130G>A	ENST00000522684.1	-	21	2041	c.1812C>T	c.(1810-1812)gaC>gaT	p.D604D	PTK2_ENST00000519419.1_Silent_p.D648D|PTK2_ENST00000519465.1_Silent_p.D232D|PTK2_ENST00000395218.2_Silent_p.D604D|PTK2_ENST00000521059.1_Silent_p.D604D|PTK2_ENST00000538769.1_Silent_p.D272D|PTK2_ENST00000535192.1_Silent_p.D604D|PTK2_ENST00000517887.1_Silent_p.D648D|PTK2_ENST00000340930.3_Silent_p.D604D	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	604	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell motility (GO:0048870)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|central nervous system neuron axonogenesis (GO:0021955)|embryo development (GO:0009790)|endothelial cell migration (GO:0043542)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|establishment of nucleus localization (GO:0040023)|extracellular matrix organization (GO:0030198)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|growth hormone receptor signaling pathway (GO:0060396)|heart morphogenesis (GO:0003007)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of organ growth (GO:0046621)|negative regulation of synapse assembly (GO:0051964)|netrin-activated signaling pathway (GO:0038007)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|placenta development (GO:0001890)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|regulation of endothelial cell migration (GO:0010594)|regulation of focal adhesion assembly (GO:0051893)|regulation of osteoblast differentiation (GO:0045667)|regulation of Rho GTPase activity (GO:0032319)|signal complex assembly (GO:0007172)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)	apical plasma membrane (GO:0016324)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|stress fiber (GO:0001725)	actin binding (GO:0003779)|ATP binding (GO:0005524)|JUN kinase binding (GO:0008432)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			ACATCCATACGTCACTAGCTG	0.284																																					p.D626D		.											.	PTK2-1517	0			c.C1878T						.	G	,,	0,4406		0,0,2203	61.0	60.0	60.0		1812,1878,1812	-3.0	0.6	8		60	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	PTK2	NM_001199649.1,NM_005607.4,NM_153831.3	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	604/1066,626/1075,604/1053	141749130	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5747	exon21			CCATACGTCACTA	L13616	CCDS6381.1, CCDS56557.1	8q24.3	2013-02-18	2013-02-18		ENSG00000169398	ENSG00000169398	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9611	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 71"""	600758	"""PTK2 protein tyrosine kinase 2"""			8422239	Standard	NM_153831		Approved	FAK, FADK, FAK1, PPP1R71	uc003yvt.3	Q05397	OTTHUMG00000067438	ENST00000522684.1:c.1812C>T	8.37:g.141749130G>A		36	0		30	20	NM_005607	0	0	7	61	54	B4E2N6|F5H4S4|Q14291|Q9UD85	Silent	SNP	ENST00000522684.1	37	CCDS6381.1	.	.	.	.	.	.	.	.	.	.	G	6.059	0.379226	0.11466	0.0	1.16E-4	ENSG00000169398	ENST00000519654	.	.	.	5.07	-2.98	0.05513	.	.	.	.	.	T	0.57725	0.2073	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56601	-0.7952	4	.	.	.	.	12.24	0.54536	0.1672:0.1224:0.7104:0.0	.	.	.	.	C	615	.	.	R	-	1	0	PTK2	141818312	0.535000	0.26370	0.609000	0.28983	0.774000	0.43823	-0.006000	0.12833	-0.567000	0.06046	-0.165000	0.13383	CGT	.		0.284	PTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378054.5	NM_005607	
MROH5	389690	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	142517208	142517208	+	RNA	SNP	C	C	T	rs139067780	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr8:142517208C>T	ENST00000430863.1	-	0	122					NM_207414.2	NP_997297.2	Q6ZUA9	MROH5_HUMAN	maestro heat-like repeat family member 5																		CTCTACCCGTCGGGGTGCAGC	0.622													C|||	7	0.00139776	0.0053	0.0	5008	,	,		18660	0.0		0.0	False		,,,				2504	0.0				.		.											.	.	0			.						.	C		11,4157		0,11,2073	85.0	91.0	89.0		42	-0.7	0.0	8	dbSNP_134	89	2,8410		0,2,4204	no	coding-synonymous	FLJ43860	NM_207414.2		0,13,6277	TT,TC,CC		0.0238,0.2639,0.1033		14/1319	142517208	13,12567	2084	4206	6290			389690	.			ACCCGTCGGGGTG			8q24.3	2012-12-20			ENSG00000226807	ENSG00000226807		"""maestro heat-like repeat containing"""	42976	protein-coding gene	gene with protein product							Standard	NM_207414		Approved	FLJ43860	uc003ywi.2	Q6ZUA9	OTTHUMG00000155944		8.37:g.142517208C>T		94	0		53	39	.	0	0	0	0	0		RNA	SNP	ENST00000430863.1	37																																																																																				C|0.999;T|0.001		0.622	MROH5-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000342412.4	NM_207414	
KIFC2	90990	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	8	145697998	145697998	+	Silent	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr8:145697998C>T	ENST00000301332.2	+	16	2147	c.1770C>T	c.(1768-1770)gcC>gcT	p.A590A	KIFC2_ENST00000301331.5_Intron|FOXH1_ENST00000525197.1_5'Flank|KIFC2_ENST00000531423.1_3'UTR	NM_145754.2	NP_665697.1	Q96AC6	KIFC2_HUMAN	kinesin family member C2	590	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			CCACCGCCGCCACCGCCATGA	0.721																																					p.A590A		.											.	KIFC2-92	0			c.C1770T						.						13.0	18.0	16.0					8																	145697998		2164	4229	6393	SO:0001819	synonymous_variant	90990	exon16			CGCCGCCACCGCC	AY007121	CCDS6427.1	8q24.3	2007-02-13			ENSG00000167702	ENSG00000167702		"""Kinesins"""	29530	protein-coding gene	gene with protein product						9115737	Standard	NM_145754		Approved		uc003zcz.3	Q96AC6	OTTHUMG00000165133	ENST00000301332.2:c.1770C>T	8.37:g.145697998C>T		12	0		29	17	NM_145754	0	0	0	6	6	E9PHB2|Q96NN6	Silent	SNP	ENST00000301332.2	37	CCDS6427.1																																																																																			.		0.721	KIFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382052.2	NM_145754	
FOXH1	8928	broad.mit.edu;bcgsc.ca;mdanderson.org	37	8	145699949	145699949	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr8:145699949C>T	ENST00000377317.4	-	3	1348	c.770G>A	c.(769-771)gGc>gAc	p.G257D	FOXH1_ENST00000525197.1_5'Flank	NM_003923.2	NP_003914.1	O75593	FOXH1_HUMAN	forkhead box H1	257					aorta morphogenesis (GO:0035909)|axial mesoderm development (GO:0048318)|cardiac right ventricle morphogenesis (GO:0003215)|embryonic heart tube anterior/posterior pattern specification (GO:0035054)|heart looping (GO:0001947)|negative regulation of androgen receptor activity (GO:2000824)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900164)|outflow tract morphogenesis (GO:0003151)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|secondary heart field specification (GO:0003139)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular trabecula myocardium morphogenesis (GO:0003222)	activin responsive factor complex (GO:0032444)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|bHLH transcription factor binding (GO:0043425)|co-SMAD binding (GO:0070410)|enhancer binding (GO:0035326)|protein domain specific binding (GO:0019904)|R-SMAD binding (GO:0070412)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.76e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			AACTGCGGTGCCCTGCAGTAA	0.672																																					p.G257D		.											.	FOXH1-226	0			c.G770A						.						18.0	19.0	19.0					8																	145699949		2197	4296	6493	SO:0001583	missense	8928	exon3			GCGGTGCCCTGCA	AF076292	CCDS6428.1	8q24.3	2014-08-12			ENSG00000160973			"""Forkhead boxes"""	3814	protein-coding gene	gene with protein product		603621				9702198	Standard	NM_003923		Approved	FAST1	uc003zdc.3	O75593	OTTHUMG00000165172	ENST00000377317.4:c.770G>A	8.37:g.145699949C>T	ENSP00000366534:p.Gly257Asp	64	1		37	32	NM_003923	0	0	0	0	0	D3DWM4	Missense_Mutation	SNP	ENST00000377317.4	37	CCDS6428.1	.	.	.	.	.	.	.	.	.	.	C	0.753	-0.771968	0.02951	.	.	ENSG00000160973	ENST00000377317	D	0.95518	-3.73	4.91	0.394	0.16299	.	0.896603	0.09539	N	0.788540	D	0.88647	0.6493	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.74383	-0.3683	10	0.10636	T	0.68	-16.4293	4.4369	0.11555	0.0:0.3957:0.1647:0.4395	.	257	O75593	FOXH1_HUMAN	D	257	ENSP00000366534:G257D	ENSP00000366534:G257D	G	-	2	0	FOXH1	145670757	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.049000	0.11924	-0.117000	0.11872	-0.469000	0.05056	GGC	.		0.672	FOXH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382451.1		
ZNF517	340385	broad.mit.edu;bcgsc.ca	37	8	146032798	146032798	+	Missense_Mutation	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr8:146032798A>G	ENST00000531720.1	+	4	542	c.497A>G	c.(496-498)gAc>gGc	p.D166G	ZNF517_ENST00000359971.3_Missense_Mutation_p.D166G|ZNF517_ENST00000525105.1_Intron|ZNF517_ENST00000526178.1_Intron			Q6ZMY9	ZN517_HUMAN	zinc finger protein 517	166					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)|large_intestine(2)|lung(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)			CTGCAGGAAGACCTGGGCCGG	0.667																																					p.D166G		.											.	ZNF517-90	0			c.A497G						.						12.0	14.0	13.0					8																	146032798		2171	4251	6422	SO:0001583	missense	340385	exon5			AGGAAGACCTGGG	AK096527	CCDS6434.1	8q24.3	2013-01-08				ENSG00000197363		"""Zinc fingers, C2H2-type"", ""-"""	27984	protein-coding gene	gene with protein product							Standard	NM_213605		Approved		uc003zed.1	Q6ZMY9		ENST00000531720.1:c.497A>G	8.37:g.146032798A>G	ENSP00000436103:p.Asp166Gly	75	2		46	33	NM_213605	0	0	0	1	1		Missense_Mutation	SNP	ENST00000531720.1	37	CCDS6434.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	5.178|5.178	0.218363|0.218363	0.09810|0.09810	.|.	.|.	ENSG00000197363|ENSG00000197363	ENST00000359971;ENST00000531720|ENST00000529429	T;T|.	0.05580|.	3.42;3.42|.	2.2|2.2	-0.573|-0.573	0.11742|0.11742	.|.	.|.	.|.	.|.	.|.	T|T	0.12860|0.12860	0.0312|0.0312	N|N	0.03608|0.03608	-0.345|-0.345	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.29027|0.29027	-1.0025|-1.0025	9|5	0.28530|.	T|.	0.3|.	.|.	5.5658|5.5658	0.17170|0.17170	0.695:0.0:0.305:0.0|0.695:0.0:0.305:0.0	.|.	166|.	Q6ZMY9|.	ZN517_HUMAN|.	G|A	166|133	ENSP00000353058:D166G;ENSP00000436103:D166G|.	ENSP00000353058:D166G|.	D|T	+|+	2|1	0|0	ZNF517|ZNF517	146003602|146003602	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.019000|0.019000	0.09904|0.09904	-1.705000|-1.705000	0.01896|0.01896	-0.268000|-0.268000	0.09312|0.09312	0.374000|0.374000	0.22700|0.22700	GAC|ACC	.		0.667	ZNF517-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382642.1	XM_291261	
ZNF517	340385	hgsc.bcm.edu	37	8	146033347	146033347	+	Missense_Mutation	SNP	T	T	C	rs2976653	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr8:146033347T>C	ENST00000531720.1	+	4	1091	c.1046T>C	c.(1045-1047)gTg>gCg	p.V349A	ZNF517_ENST00000359971.3_Missense_Mutation_p.V349A|ZNF517_ENST00000525105.1_Intron|ZNF517_ENST00000526178.1_Intron			Q6ZMY9	ZN517_HUMAN	zinc finger protein 517	349				V -> A (in Ref. 1; BAD18586). {ECO:0000305}.	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)|large_intestine(2)|lung(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)			GACGGCGGCGTGGGGCAGGGC	0.746													C|||	4981	0.994609	1.0	1.0	5008	,	,		12856	1.0		0.994	False		,,,				2504	0.9785				p.V349A		.											.	ZNF517-90	0			c.T1046C						.	C	ALA/VAL	3411,3		1704,3,0	3.0	5.0	4.0		1046	-0.8	0.0	8	dbSNP_101	4	7050,46		3502,46,0	no	missense	ZNF517	NM_213605.2	64	5206,49,0	CC,CT,TT		0.6483,0.0879,0.4662	benign	349/493	146033347	10461,49	1707	3548	5255	SO:0001583	missense	340385	exon5			GCGGCGTGGGGCA	AK096527	CCDS6434.1	8q24.3	2013-01-08				ENSG00000197363		"""Zinc fingers, C2H2-type"", ""-"""	27984	protein-coding gene	gene with protein product							Standard	NM_213605		Approved		uc003zed.1	Q6ZMY9		ENST00000531720.1:c.1046T>C	8.37:g.146033347T>C	ENSP00000436103:p.Val349Ala	0	0		8	8	NM_213605	0	0	0	0	0		Missense_Mutation	SNP	ENST00000531720.1	37	CCDS6434.1	2179|2179	0.9977106227106227|0.9977106227106227	492|492	1.0|1.0	362|362	1.0|1.0	572|572	1.0|1.0	753|753	0.9934036939313984|0.9934036939313984	C|C	0.021|0.021	-1.418607|-1.418607	0.01136|0.01136	0.999121|0.999121	0.993517|0.993517	ENSG00000197363|ENSG00000197363	ENST00000359971;ENST00000531720|ENST00000529429	T;T|.	0.05319|.	3.46;3.46|.	2.17|2.17	-0.838|-0.838	0.10762|0.10762	.|.	.|.	.|.	.|.	.|.	T|T	0.00012|0.00012	0.0000|0.0000	L|L	0.35644|0.35644	1.08|1.08	0.80722|0.80722	P|P	0.0|0.0	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.21449|0.21449	-1.0245|-1.0245	8|4	0.59425|.	D|.	0.04|.	.|.	0.241|0.241	0.00192|0.00192	0.362:0.2246:0.2135:0.1999|0.362:0.2246:0.2135:0.1999	rs2976653;rs59817342|rs2976653;rs59817342	349|.	Q6ZMY9|.	ZN517_HUMAN|.	A|R	349|316	ENSP00000353058:V349A;ENSP00000436103:V349A|.	ENSP00000353058:V349A|.	V|W	+|+	2|1	0|0	ZNF517|ZNF517	146004151|146004151	0.001000|0.001000	0.12720|0.12720	0.002000|0.002000	0.10522|0.10522	0.004000|0.004000	0.04260|0.04260	-0.400000|-0.400000	0.07241|0.07241	-0.612000|-0.612000	0.05701|0.05701	-1.157000|-1.157000	0.01802|0.01802	GTG|TGG	G|0.992;C|0.006		0.746	ZNF517-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382642.1	XM_291261	
RLN2	6019	hgsc.bcm.edu	37	9	5304561	5304561	+	Frame_Shift_Del	DEL	A	A	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:5304561delA	ENST00000381627.3	-	1	408	c.20delT	c.(19-21)ttcfs	p.F7fs	RLN2_ENST00000308420.3_Frame_Shift_Del_p.F7fs	NM_134441.2	NP_604390.1	P04090	REL2_HUMAN	relaxin 2	7					female pregnancy (GO:0007565)	extracellular region (GO:0005576)				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	11	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)		TAGCAGGTGGAAAAAAAACAG	0.532																																					p.F7fs		.											.	RLN2-90	0			c.20delT						.						62.0	64.0	63.0					9																	5304561		2203	4300	6503	SO:0001589	frameshift_variant	6019	exon1			AGGTGGAAAAAAA		CCDS6460.1	9p24.1	2013-02-26	2004-11-15		ENSG00000107014	ENSG00000107014		"""Endogenous ligands"""	10027	protein-coding gene	gene with protein product	"""relaxin H2"", ""prorelaxin H2"", ""relaxin, ovarian, of pregnancy"""	179740	"""relaxin 2 (H2)"""			6548703, 6548702	Standard	NM_134441		Approved	H2, RLXH2, bA12D24.1.1, bA12D24.1.2	uc003zja.2	P04090	OTTHUMG00000019496	ENST00000381627.3:c.20delT	9.37:g.5304561delA	ENSP00000371040:p.Phe7fs	301	2		339	16	NM_005059	0	0	0	0	0	A0AVM0|Q99936|Q9UCX3|Q9UQJ2	Frame_Shift_Del	DEL	ENST00000381627.3	37	CCDS6460.1																																																																																			.		0.532	RLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051619.1	NM_134441	
KDM4C	23081	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	7049096	7049096	+	Missense_Mutation	SNP	G	G	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:7049096G>C	ENST00000381309.3	+	17	2885	c.2320G>C	c.(2320-2322)Gcc>Ccc	p.A774P	KDM4C_ENST00000442236.2_Missense_Mutation_p.A519P|KDM4C_ENST00000543771.1_Missense_Mutation_p.A774P|KDM4C_ENST00000381306.3_Missense_Mutation_p.A774P|KDM4C_ENST00000428870.2_Missense_Mutation_p.A461P|KDM4C_ENST00000535193.1_Missense_Mutation_p.A796P|KDM4C_ENST00000536108.1_Intron	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	774					histone H3-K9 demethylation (GO:0033169)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	androgen receptor binding (GO:0050681)|dioxygenase activity (GO:0051213)|enzyme binding (GO:0019899)|histone demethylase activity (H3-K9 specific) (GO:0032454)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						CTGTAGGTGGGCCCATGTCAT	0.428																																					p.A796P		.											.	KDM4C-228	0			c.G2386C						.						85.0	87.0	86.0					9																	7049096		2203	4300	6503	SO:0001583	missense	23081	exon17			AGGTGGGCCCATG	AB018323	CCDS6471.1, CCDS55285.1, CCDS55286.1, CCDS55287.1	9p24-p23	2013-01-23	2009-04-06	2009-04-06	ENSG00000107077	ENSG00000107077		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	17071	protein-coding gene	gene with protein product	"""tudor domain containing 14C"""	605469	"""jumonji domain containing 2C"""	JMJD2C		9872452, 15138608	Standard	NM_015061		Approved	GASC1, KIAA0780, TDRD14C	uc003zkh.3	Q9H3R0	OTTHUMG00000019536	ENST00000381309.3:c.2320G>C	9.37:g.7049096G>C	ENSP00000370710:p.Ala774Pro	90	0		69	22	NM_001146696	0	0	0	0	0	B4E1Y4|B7ZL46|F5H347|F5H7P0|O94877|Q2M3M0|Q5JUC9|Q5VYJ2|Q5VYJ3	Missense_Mutation	SNP	ENST00000381309.3	37	CCDS6471.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.890279	0.91889	.	.	ENSG00000107077	ENST00000535193;ENST00000543771;ENST00000381309;ENST00000381306;ENST00000442236;ENST00000428870;ENST00000420847	T;T;T;T;T;T;T	0.15603	2.41;2.41;2.41;2.41;2.41;2.41;2.41	5.77	5.77	0.91146	.	0.051524	0.85682	D	0.000000	T	0.55862	0.1947	M	0.93507	3.425	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.999;1.0;1.0;0.999	D;D;D;D;D	0.77557	0.985;0.962;0.988;0.99;0.983	T	0.65001	-0.6274	10	0.62326	D	0.03	-24.8699	20.3626	0.98863	0.0:0.0:1.0:0.0	.	519;774;796;774;774	E7EV17;F5H347;F5H7P0;Q9H3R0;Q9H3R0-2	.;.;.;KDM4C_HUMAN;.	P	796;774;774;774;519;461;118	ENSP00000442382:A796P;ENSP00000445427:A774P;ENSP00000370710:A774P;ENSP00000370707:A774P;ENSP00000409353:A519P;ENSP00000405739:A461P;ENSP00000400127:A118P	ENSP00000370707:A774P	A	+	1	0	KDM4C	7039096	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.899000	0.87370	2.885000	0.99019	0.655000	0.94253	GCC	.		0.428	KDM4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051692.1	NM_015061	
KDM4C	23081	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	7049109	7049109	+	Missense_Mutation	SNP	G	G	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:7049109G>T	ENST00000381309.3	+	17	2898	c.2333G>T	c.(2332-2334)tGc>tTc	p.C778F	KDM4C_ENST00000442236.2_Missense_Mutation_p.C523F|KDM4C_ENST00000543771.1_Missense_Mutation_p.C778F|KDM4C_ENST00000381306.3_Missense_Mutation_p.C778F|KDM4C_ENST00000428870.2_Missense_Mutation_p.C465F|KDM4C_ENST00000535193.1_Missense_Mutation_p.C800F|KDM4C_ENST00000536108.1_Intron	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	778					histone H3-K9 demethylation (GO:0033169)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	androgen receptor binding (GO:0050681)|dioxygenase activity (GO:0051213)|enzyme binding (GO:0019899)|histone demethylase activity (H3-K9 specific) (GO:0032454)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						CATGTCATGTGCGCCGTTGCG	0.438																																					p.C800F		.											.	KDM4C-228	0			c.G2399T						.						93.0	93.0	93.0					9																	7049109		2203	4300	6503	SO:0001583	missense	23081	exon17			TCATGTGCGCCGT	AB018323	CCDS6471.1, CCDS55285.1, CCDS55286.1, CCDS55287.1	9p24-p23	2013-01-23	2009-04-06	2009-04-06	ENSG00000107077	ENSG00000107077		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	17071	protein-coding gene	gene with protein product	"""tudor domain containing 14C"""	605469	"""jumonji domain containing 2C"""	JMJD2C		9872452, 15138608	Standard	NM_015061		Approved	GASC1, KIAA0780, TDRD14C	uc003zkh.3	Q9H3R0	OTTHUMG00000019536	ENST00000381309.3:c.2333G>T	9.37:g.7049109G>T	ENSP00000370710:p.Cys778Phe	102	0		84	31	NM_001146696	0	0	13	13	0	B4E1Y4|B7ZL46|F5H347|F5H7P0|O94877|Q2M3M0|Q5JUC9|Q5VYJ2|Q5VYJ3	Missense_Mutation	SNP	ENST00000381309.3	37	CCDS6471.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.276461	0.80580	.	.	ENSG00000107077	ENST00000535193;ENST00000543771;ENST00000381309;ENST00000381306;ENST00000442236;ENST00000428870;ENST00000420847	T;T;T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63;0.63;0.63	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.83041	0.5168	H	0.98833	4.345	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	0.999;0.999;1.0;1.0;0.999	D	0.89206	0.3561	10	0.87932	D	0	-30.9319	20.3626	0.98863	0.0:0.0:1.0:0.0	.	523;778;800;778;778	E7EV17;F5H347;F5H7P0;Q9H3R0;Q9H3R0-2	.;.;.;KDM4C_HUMAN;.	F	800;778;778;778;523;465;122	ENSP00000442382:C800F;ENSP00000445427:C778F;ENSP00000370710:C778F;ENSP00000370707:C778F;ENSP00000409353:C523F;ENSP00000405739:C465F;ENSP00000400127:C122F	ENSP00000370707:C778F	C	+	2	0	KDM4C	7039109	1.000000	0.71417	0.976000	0.42696	0.988000	0.76386	7.899000	0.87370	2.885000	0.99019	0.655000	0.94253	TGC	.		0.438	KDM4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051692.1	NM_015061	
FREM1	158326	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	14776240	14776240	+	Intron	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:14776240T>C	ENST00000380880.3	-	25	5226				FREM1_ENST00000486223.1_5'Flank|FREM1_ENST00000380894.1_Silent_p.Q4Q|FREM1_ENST00000422223.2_Intron|FREM1_ENST00000380881.4_Intron			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1						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)		GCATGGATTCTTGTGTCACCA	0.453																																					p.Q4Q		.											.	FREM1-138	0			c.A12G						.						24.0	26.0	25.0					9																	14776240		2013	4171	6184	SO:0001627	intron_variant	158326	exon2			GGATTCTTGTGTC	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.4443-39A>G	9.37:g.14776240T>C		120	0		146	63	NM_001177704	0	0	0	0	0	B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Silent	SNP	ENST00000380880.3	37	CCDS47952.1																																																																																			.		0.453	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966	
BNC2	54796	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	16436339	16436339	+	Missense_Mutation	SNP	A	A	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:16436339A>T	ENST00000380672.4	-	6	1910	c.1853T>A	c.(1852-1854)aTg>aAg	p.M618K	BNC2_ENST00000380666.2_Missense_Mutation_p.M618K|BNC2_ENST00000380667.2_Missense_Mutation_p.M551K|BNC2_ENST00000545497.1_Missense_Mutation_p.M523K	NM_017637.5	NP_060107.3			basonuclin 2											NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		ATGGGTGGCCATCATCACTGC	0.557																																					p.M618K		.											.	BNC2-92	0			c.T1853A						.						77.0	77.0	77.0					9																	16436339		2203	4300	6503	SO:0001583	missense	54796	exon6			GTGGCCATCATCA	AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"""Zinc fingers, C2H2-type"""	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.1853T>A	9.37:g.16436339A>T	ENSP00000370047:p.Met618Lys	72	0		74	39	NM_017637	0	0	0	0	0		Missense_Mutation	SNP	ENST00000380672.4	37	CCDS6482.2	.	.	.	.	.	.	.	.	.	.	A	10.26	1.300197	0.23650	.	.	ENSG00000173068	ENST00000380672;ENST00000411752;ENST00000418777;ENST00000380667;ENST00000545497;ENST00000544198;ENST00000380666;ENST00000540340	T;T;T;T;T;T	0.45276	1.53;0.9;1.52;1.55;1.54;1.51	6.17	6.17	0.99709	.	0.238346	0.52532	D	0.000079	T	0.32852	0.0843	L	0.36672	1.1	0.58432	D	0.999993	B;B;B;B;B;B;B;B;B	0.19817	0.004;0.023;0.004;0.016;0.039;0.009;0.003;0.01;0.009	B;B;B;B;B;B;B;B;B	0.20384	0.018;0.009;0.018;0.029;0.02;0.009;0.004;0.019;0.009	T	0.17930	-1.0353	10	0.05833	T	0.94	-5.7508	16.8222	0.85835	1.0:0.0:0.0:0.0	.	523;551;618;444;618;575;618;523;383	F5H586;B1APH0;Q6ZN30-2;B4E3J2;F5H8G9;Q5H9S4;Q6ZN30;B4DR27;D3DRJ1	.;.;.;.;.;.;BNC2_HUMAN;.;.	K	618;11;575;551;523;444;618;618	ENSP00000370047:M618K;ENSP00000392212:M11K;ENSP00000408370:M575K;ENSP00000370042:M551K;ENSP00000444640:M523K;ENSP00000370041:M618K	ENSP00000370041:M618K	M	-	2	0	BNC2	16426339	1.000000	0.71417	1.000000	0.80357	0.686000	0.39977	1.417000	0.34770	2.371000	0.80710	0.533000	0.62120	ATG	.		0.557	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637	
SLC24A2	25769	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	19520911	19520911	+	Missense_Mutation	SNP	T	T	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:19520911T>A	ENST00000341998.2	-	9	1778	c.1717A>T	c.(1717-1719)Att>Ttt	p.I573F	SLC24A2_ENST00000286344.3_Missense_Mutation_p.I556F	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	573					cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	cadmium ion binding (GO:0046870)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium, potassium:sodium antiporter activity (GO:0008273)|manganese ion binding (GO:0030145)|nickel cation binding (GO:0016151)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|symporter activity (GO:0015293)			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		ATGTCAAAAATGTTGCTTCCA	0.507																																					p.I573F		.											.	SLC24A2-517	0			c.A1717T						.						141.0	126.0	131.0					9																	19520911		2203	4300	6503	SO:0001583	missense	25769	exon9			CAAAAATGTTGCT	AF097366	CCDS6493.1, CCDS55297.1	9p22.1	2013-05-22			ENSG00000155886	ENSG00000155886		"""Solute carriers"""	10976	protein-coding gene	gene with protein product		609838				10662833	Standard	NM_020344		Approved	NCKX2	uc003zoa.2	Q9UI40	OTTHUMG00000019646	ENST00000341998.2:c.1717A>T	9.37:g.19520911T>A	ENSP00000344801:p.Ile573Phe	157	0		193	89	NM_020344	0	0	0	0	0	B7ZLL8|Q9NTN5|Q9NZQ4	Missense_Mutation	SNP	ENST00000341998.2	37	CCDS6493.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.562825	0.86335	.	.	ENSG00000155886	ENST00000341998;ENST00000286344	T;T	0.66995	-0.24;-0.24	5.2	5.2	0.72013	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	D	0.86368	0.5916	H	0.94582	3.555	0.80722	D	1	D;D	0.89917	1.0;0.971	D;P	0.78314	0.991;0.838	D	0.90300	0.4329	9	.	.	.	.	15.2382	0.73447	0.0:0.0:0.0:1.0	.	556;573	Q9UI40-2;Q9UI40	.;NCKX2_HUMAN	F	573;556	ENSP00000344801:I573F;ENSP00000286344:I556F	.	I	-	1	0	SLC24A2	19510911	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.832000	0.86757	2.194000	0.70268	0.533000	0.62120	ATT	.		0.507	SLC24A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051866.2	NM_020344	
CDKN2A	1029	hgsc.bcm.edu	37	9	21971150	21971150	+	Missense_Mutation	SNP	G	G	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:21971150G>T	ENST00000304494.5	-	2	478	c.208C>A	c.(208-210)Ccc>Acc	p.P70T	CDKN2A_ENST00000579122.1_Missense_Mutation_p.P70T|CDKN2A_ENST00000498124.1_Missense_Mutation_p.P70T|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000361570.3_Missense_Mutation_p.A125D|CDKN2A_ENST00000497750.1_Missense_Mutation_p.P19T|CDKN2A_ENST00000530628.2_Missense_Mutation_p.A84D|CDKN2A_ENST00000578845.2_Missense_Mutation_p.P19T|CDKN2A_ENST00000579755.1_Missense_Mutation_p.A84D|CDKN2A_ENST00000494262.1_Missense_Mutation_p.P19T|CDKN2A_ENST00000498628.2_Missense_Mutation_p.P19T|CDKN2A_ENST00000479692.2_Missense_Mutation_p.P19T|CDKN2A_ENST00000446177.1_Missense_Mutation_p.P70T	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	70			Missing (in melanoma; loss of CDK4 binding). {ECO:0000269|PubMed:19260062}.		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(44)|p.P70A(1)|p.E61_L94del(1)|p.0(1)|p.V59fs*45(1)|p.L65fs*38(1)|p.A68fs*3(1)|p.L63fs*75(1)|p.P70S(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCGCAGTTGGGCTCCGCGCCG	0.721		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																											p.A84D		.											.	CDKN2A-23992	1367	Whole gene deletion(1316)|Unknown(44)|Deletion - Frameshift(4)|Substitution - Missense(2)|Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(283)|skin(174)|central_nervous_system(167)|lung(145)|urinary_tract(91)|bone(74)|soft_tissue(57)|oesophagus(54)|pleura(51)|upper_aerodigestive_tract(49)|ovary(36)|kidney(32)|pancreas(32)|breast(32)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|endometrium(3)|vulva(2)|prostate(2)	c.C251A						.						8.0	10.0	9.0					9																	21971150		2154	4237	6391	SO:0001583	missense	1029	exon2			AGTTGGGCTCCGC	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.208C>A	9.37:g.21971150G>T	ENSP00000307101:p.Pro70Thr	9	0		36	12	NM_058195	0	0	18	36	18	A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	ENST00000304494.5	37	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.57|19.57	3.853344|3.853344	0.71719|0.71719	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000361570;ENST00000530628|ENST00000304494;ENST00000446177	T;T|D;D	0.77098|0.94576	-1.07;-1.02|-3.46;-3.46	5.79|5.79	4.89|4.89	0.63831|0.63831	.|Ankyrin repeat-containing domain (4);	1.154960|.	0.06683|.	N|.	0.768348|.	D|D	0.92704|0.92704	0.7681|0.7681	N|N	0.08118|0.08118	0|0	0.41896|0.41896	D|D	0.990392|0.990392	P|D	0.38922|0.89917	0.651|1.0	B|D	0.32805|0.91635	0.153|0.999	D|D	0.91782|0.91782	0.5436|0.5436	10|9	0.46703|0.27785	T|T	0.11|0.31	-8.9036|-8.9036	12.9063|12.9063	0.58154|0.58154	0.0806:0.0:0.9194:0.0|0.0806:0.0:0.9194:0.0	.|.	125|70	Q8N726|P42771	CD2A2_HUMAN|CD2A1_HUMAN	D|T	125;84|70	ENSP00000355153:A125D;ENSP00000432664:A84D|ENSP00000307101:P70T;ENSP00000394932:P70T	ENSP00000355153:A125D|ENSP00000307101:P70T	A|P	-|-	2|1	0|0	CDKN2A|CDKN2A	21961150|21961150	1.000000|1.000000	0.71417|0.71417	0.918000|0.918000	0.36340|0.36340	0.622000|0.622000	0.37654|0.37654	4.616000|4.616000	0.61197|0.61197	1.421000|1.421000	0.47157|0.47157	0.555000|0.555000	0.69702|0.69702	GCC|CCC	.		0.721	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077	
TMEM215	401498	broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	32784389	32784389	+	Missense_Mutation	SNP	C	C	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:32784389C>A	ENST00000342743.5	+	2	573	c.208C>A	c.(208-210)Cca>Aca	p.P70T		NM_212558.2	NP_997723.2	Q68D42	TM215_HUMAN	transmembrane protein 215	70						integral component of membrane (GO:0016021)		p.P70T(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						CACCAAGTGGCCAGAGAACGA	0.592																																					p.P70T		.											.	TMEM215-90	1	Substitution - Missense(1)	large_intestine(1)	c.C208A						.						88.0	77.0	81.0					9																	32784389		2203	4300	6503	SO:0001583	missense	401498	exon2			AAGTGGCCAGAGA		CCDS6530.1	9p21.1	2008-08-08			ENSG00000188133	ENSG00000188133			33816	protein-coding gene	gene with protein product							Standard	NM_212558		Approved		uc003zri.4	Q68D42	OTTHUMG00000129521	ENST00000342743.5:c.208C>A	9.37:g.32784389C>A	ENSP00000345468:p.Pro70Thr	141	1		150	71	NM_212558	0	0	0	0	0	Q6ZUU2	Missense_Mutation	SNP	ENST00000342743.5	37	CCDS6530.1	.	.	.	.	.	.	.	.	.	.	C	9.667	1.145705	0.21288	.	.	ENSG00000188133	ENST00000342743	.	.	.	5.18	5.18	0.71444	.	0.000000	0.64402	D	0.000001	T	0.65739	0.2720	L	0.27053	0.805	0.54753	D	0.999989	D	0.89917	1.0	D	0.87578	0.998	T	0.70055	-0.4977	9	0.87932	D	0	-11.9317	16.1743	0.81842	0.0:1.0:0.0:0.0	.	70	Q68D42	TM215_HUMAN	T	70	.	ENSP00000345468:P70T	P	+	1	0	TMEM215	32774389	1.000000	0.71417	0.997000	0.53966	0.098000	0.18820	5.731000	0.68554	2.413000	0.81919	0.561000	0.74099	CCA	.		0.592	TMEM215-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251701.1	NM_212558	
ANKRD18B	441459	hgsc.bcm.edu;bcgsc.ca;mdanderson.org	37	9	33572356	33572356	+	Nonstop_Mutation	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:33572356T>C	ENST00000290943.6	+	16	3130	c.3034T>C	c.(3034-3036)Tag>Cag	p.*1012Q		NM_001244752.1	NP_001231681.1	A2A2Z9	AN18B_HUMAN	ankyrin repeat domain 18B	0										NS(1)|breast(1)|endometrium(2)|lung(1)|prostate(1)|stomach(1)	7						CTTTCTTCTCTAGAATCCACT	0.333																																					p.X1011Q		.											.	.	0			c.T3031C						.																																			SO:0001578	stop_lost	441459	exon16			CTTCTCTAGAATC			9p13.3	2013-01-10			ENSG00000230453	ENSG00000230453		"""Ankyrin repeat domain containing"""	23644	protein-coding gene	gene with protein product							Standard	NM_001244752		Approved	bA255A11.3	uc010mjw.2	A2A2Z9	OTTHUMG00000019776	ENST00000290943.6:c.3034T>C	9.37:g.33572356T>C	ENSP00000290943:p.*1012Glnext*8	170	0		213	107	NM_001244752	0	0	0	0	0		Missense_Mutation	SNP	ENST00000290943.6	37		.	.	.	.	.	.	.	.	.	.	T	0.162	-1.080373	0.01888	.	.	ENSG00000230453	ENST00000290943	.	.	.	1.46	0.109	0.14578	.	.	.	.	.	.	.	.	.	.	.	0.30974	N	0.7227589999999999	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.1119	0.10063	0.0:0.0:0.3745:0.6255	.	.	.	.	Q	1012	.	.	X	+	1	0	ANKRD18B	33562356	0.001000	0.12720	0.001000	0.08648	0.009000	0.06853	0.700000	0.25601	0.022000	0.15160	0.248000	0.18094	TAG	.		0.333	ANKRD18B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000313729.2	XM_001718334	
C9orf24	84688	broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	34381072	34381072	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:34381072C>T	ENST00000297623.2	-	5	728	c.530G>A	c.(529-531)cGg>cAg	p.R177Q	C9orf24_ENST00000379126.3_Missense_Mutation_p.R42Q|C9orf24_ENST00000481295.1_5'Flank|C9orf24_ENST00000379133.3_Missense_Mutation_p.R42Q|C9orf24_ENST00000379127.1_Missense_Mutation_p.R42Q|C9orf24_ENST00000379124.1_Missense_Mutation_p.R42Q	NM_032596.3	NP_115985.2	Q8NCR6	SMRP1_HUMAN	chromosome 9 open reading frame 24	177					cell differentiation (GO:0030154)|cellular protein complex assembly (GO:0043623)|spermatogenesis (GO:0007283)	manchette (GO:0002177)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.123)		GGGCGTGATCCGCGGCAGCTG	0.667																																					p.R177Q		.											.	C9orf24-91	0			c.G530A						.						13.0	18.0	16.0					9																	34381072		2195	4295	6490	SO:0001583	missense	84688	exon5			GTGATCCGCGGCA	BC029484	CCDS6553.1, CCDS6554.1, CCDS6555.1, CCDS59121.1	9p11.2	2013-01-11			ENSG00000164972	ENSG00000164972			19919	protein-coding gene	gene with protein product	"""ciliated bronchial epithelium 1"", ""spermatid-specific manchette-related protein 1"""					12029067	Standard	NM_147168		Approved	bA573M23.4, NYD-SP22, MGC32921, MGC33614, CBE1, SMRP1	uc003zuh.1	Q8NCR6	OTTHUMG00000000437	ENST00000297623.2:c.530G>A	9.37:g.34381072C>T	ENSP00000297623:p.Arg177Gln	56	1		138	73	NM_032596	0	0	1	1	0	Q5T598|Q5T599|Q5T5A0|Q8N9G4|Q96KD1|Q96LN1	Missense_Mutation	SNP	ENST00000297623.2	37	CCDS6554.1	.	.	.	.	.	.	.	.	.	.	C	11.77	1.739019	0.30774	.	.	ENSG00000164972	ENST00000297623;ENST00000379126;ENST00000379133;ENST00000379127;ENST00000379124	T;T;T;T;T	0.39592	1.07;1.07;1.07;1.07;1.07	4.65	0.798	0.18660	.	0.489219	0.18767	N	0.131703	T	0.12475	0.0303	N	0.01874	-0.695	0.09310	N	1	B;B;B	0.12630	0.006;0.002;0.002	B;B;B	0.06405	0.001;0.0;0.002	T	0.23762	-1.0179	10	0.13108	T	0.6	-7.6386	3.6246	0.08108	0.0:0.2312:0.2159:0.553	.	42;177;42	Q8NCR6-2;Q8NCR6;Q8NCR6-3	.;CI024_HUMAN;.	Q	177;42;42;42;42	ENSP00000297623:R177Q;ENSP00000368421:R42Q;ENSP00000368428:R42Q;ENSP00000368422:R42Q;ENSP00000368419:R42Q	ENSP00000297623:R177Q	R	-	2	0	C9orf24	34371072	0.986000	0.35501	0.652000	0.29579	0.943000	0.58893	0.751000	0.26348	0.285000	0.22329	-0.379000	0.06801	CGG	.		0.667	C9orf24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001098.3	NM_147169	
DNAJB5	25822	ucsc.edu;bcgsc.ca	37	9	34993362	34993362	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:34993362G>A	ENST00000541010.1	+	1	3144	c.132G>A	c.(130-132)aaG>aaA	p.K44K	DNAJB5_ENST00000454002.2_Silent_p.K116K|DNAJB5_ENST00000453597.3_Silent_p.K158K|DNAJB5_ENST00000335998.3_Silent_p.K78K|DNAJB5_ENST00000545841.1_Silent_p.K44K|DNAJB5_ENST00000312316.5_Silent_p.K44K			O75953	DNJB5_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 5	44	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|nucleus (GO:0005634)	chaperone binding (GO:0051087)			kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(32;0.00575)			CTGAGGAGAAGTTTAAGGAGA	0.527																																					p.K158K		.											.	DNAJB5-226	0			c.G474A						.						146.0	144.0	144.0					9																	34993362		2203	4300	6503	SO:0001819	synonymous_variant	25822	exon3			GGAGAAGTTTAAG	AF088982	CCDS35007.1, CCDS47959.1, CCDS47960.1, CCDS47960.2	9p	2011-09-02			ENSG00000137094	ENSG00000137094		"""Heat shock proteins / DNAJ (HSP40)"""	14887	protein-coding gene	gene with protein product		611328				10570961, 11147971	Standard	NM_001135004		Approved	Hsc40	uc003zvs.4	O75953	OTTHUMG00000019840	ENST00000541010.1:c.132G>A	9.37:g.34993362G>A		167	3		209	71	NM_001135004	0	0	14	22	8	B3KN14|B4DSA6|J3KQM9|J3KR08|Q5T656|Q8TDR7|Q96EM4	Silent	SNP	ENST00000541010.1	37	CCDS35007.1																																																																																			.		0.527	DNAJB5-008	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401397.1		
C9orf131	138724	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	9	35043650	35043650	+	Frame_Shift_Del	DEL	C	C	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:35043650delC	ENST00000312292.5	+	2	1071	c.1024delC	c.(1024-1026)cccfs	p.P343fs	C9orf131_ENST00000421362.2_Frame_Shift_Del_p.P295fs|FLJ00273_ENST00000595331.1_5'Flank|C9orf131_ENST00000354479.5_Frame_Shift_Del_p.P270fs	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	343										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			TCCGATGCCACCCCCCTGCCA	0.527																																					p.P342fs		.											.	C9orf131-90	0			c.1024delC						.						183.0	209.0	200.0					9																	35043650		2203	4300	6503	SO:0001589	frameshift_variant	138724	exon2			ATGCCACCCCCCT	BC045643	CCDS6572.2, CCDS47961.1, CCDS47962.1	9p13.3	2008-02-05			ENSG00000174038	ENSG00000174038			31418	protein-coding gene	gene with protein product							Standard	NM_001287391		Approved	MGC41945	uc003zvw.3	Q5VYM1	OTTHUMG00000019853	ENST00000312292.5:c.1024delC	9.37:g.35043650delC	ENSP00000308279:p.Pro343fs	51	0		85	32	NM_203299	0	0	0	0	0	A6NLE6|E9PB26|Q86XC6|Q9UF74	Frame_Shift_Del	DEL	ENST00000312292.5	37	CCDS6572.2																																																																																			.		0.527	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052283.5	NM_203299	
C9orf131	138724	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	35044520	35044520	+	Missense_Mutation	SNP	C	C	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:35044520C>A	ENST00000312292.5	+	2	1941	c.1894C>A	c.(1894-1896)Caa>Aaa	p.Q632K	C9orf131_ENST00000421362.2_Missense_Mutation_p.Q584K|FLJ00273_ENST00000595331.1_5'Flank|C9orf131_ENST00000354479.5_Missense_Mutation_p.Q559K	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	632										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			GGAAATGGAGCAAAAAGAAAA	0.512																																					p.Q632K		.											.	C9orf131-90	0			c.C1894A						.						105.0	107.0	106.0					9																	35044520		2203	4300	6503	SO:0001583	missense	138724	exon2			ATGGAGCAAAAAG	BC045643	CCDS6572.2, CCDS47961.1, CCDS47962.1	9p13.3	2008-02-05			ENSG00000174038	ENSG00000174038			31418	protein-coding gene	gene with protein product							Standard	NM_001287391		Approved	MGC41945	uc003zvw.3	Q5VYM1	OTTHUMG00000019853	ENST00000312292.5:c.1894C>A	9.37:g.35044520C>A	ENSP00000308279:p.Gln632Lys	63	1		91	33	NM_203299	0	0	0	0	0	A6NLE6|E9PB26|Q86XC6|Q9UF74	Missense_Mutation	SNP	ENST00000312292.5	37	CCDS6572.2	.	.	.	.	.	.	.	.	.	.	C	16.58	3.162841	0.57368	.	.	ENSG00000174038	ENST00000421362;ENST00000354479;ENST00000312292;ENST00000435140	T;T;T	0.15372	2.43;2.43;2.44	3.96	3.05	0.35203	.	0.478549	0.17840	N	0.160234	T	0.11879	0.0289	L	0.39020	1.185	0.22489	N	0.999055	P;P;P;P	0.46142	0.873;0.873;0.873;0.873	B;B;B;B	0.39562	0.303;0.303;0.303;0.303	T	0.14559	-1.0468	10	0.21540	T	0.41	0.4259	9.0518	0.36380	0.2192:0.7808:0.0:0.0	.	107;632;559;584	B4DXT9;Q5VYM1;A6NLE6;E9PB26	.;CI131_HUMAN;.;.	K	584;559;632;107	ENSP00000393683:Q584K;ENSP00000346472:Q559K;ENSP00000308279:Q632K	ENSP00000308279:Q632K	Q	+	1	0	C9orf131	35034520	0.994000	0.37717	0.681000	0.30009	0.301000	0.27625	1.496000	0.35638	1.230000	0.43646	-0.182000	0.12963	CAA	.		0.512	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052283.5	NM_203299	
TLN1	7094	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	35720206	35720206	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:35720206G>A	ENST00000314888.9	-	13	1647	c.1294C>T	c.(1294-1296)Ctg>Ttg	p.L432L	TLN1_ENST00000540444.1_Silent_p.L432L	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	432	Interaction with LAYN. {ECO:0000250}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TGCTGCTGCAGGACTGTTGAC	0.567																																					p.L432L		.											.	TLN1-609	0			c.C1294T						.						81.0	79.0	79.0					9																	35720206		2203	4300	6503	SO:0001819	synonymous_variant	7094	exon13			GCTGCAGGACTGT	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.1294C>T	9.37:g.35720206G>A		93	0		142	33	NM_006289	0	0	0	0	0	A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Silent	SNP	ENST00000314888.9	37	CCDS35009.1																																																																																			.		0.567	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289	
TLN1	7094	broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	35735312	35735312	+	5'Flank	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:35735312A>G	ENST00000314888.9	-	0	0				CREB3_ENST00000486056.1_3'UTR|CREB3_ENST00000353704.2_Silent_p.K184K|TLN1_ENST00000540444.1_5'Flank|GBA2_ENST00000467252.1_5'Flank	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GGGTCTTGAAATACACAGCCC	0.448																																					p.K184K		.											.	CREB3-90	0			c.A552G						.						196.0	208.0	204.0					9																	35735312		2203	4300	6503	SO:0001631	upstream_gene_variant	10488	exon6			CTTGAAATACACA	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874		9.37:g.35735312A>G	Exception_encountered	114	1		177	57	NM_006368	0	0	0	0	0	A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Silent	SNP	ENST00000314888.9	37	CCDS35009.1																																																																																			.		0.448	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289	
CCIN	881	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	36170340	36170340	+	Missense_Mutation	SNP	G	G	A	rs150485511		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:36170340G>A	ENST00000335119.2	+	1	952	c.841G>A	c.(841-843)Gtg>Atg	p.V281M		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	281					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)		p.V281M(1)		breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			GCTTGATTCCGTGGTCATCCT	0.562																																					p.V281M		.											.	CCIN-92	1	Substitution - Missense(1)	endometrium(1)	c.G841A						.	G	MET/VAL	0,4406		0,0,2203	68.0	61.0	63.0		841	6.0	1.0	9	dbSNP_134	63	1,8599	1.2+/-3.3	0,1,4299	no	missense	CCIN	NM_005893.2	21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	281/589	36170340	1,13005	2203	4300	6503	SO:0001583	missense	881	exon1			GATTCCGTGGTCA	Z46967	CCDS6599.1	9p13.1	2013-10-02			ENSG00000185972	ENSG00000185972		"""BTB/POZ domain containing"""	1568	protein-coding gene	gene with protein product		603960				7641791	Standard	NM_005893		Approved	KBTBD14, BTBD20	uc003zzb.4	Q13939	OTTHUMG00000019901	ENST00000335119.2:c.841G>A	9.37:g.36170340G>A	ENSP00000334996:p.Val281Met	81	0		111	49	NM_005893	0	0	0	0	0	Q9BXG7	Missense_Mutation	SNP	ENST00000335119.2	37	CCDS6599.1	.	.	.	.	.	.	.	.	.	.	G	15.46	2.841125	0.51057	0.0	1.16E-4	ENSG00000185972	ENST00000335119	T	0.68025	-0.3	5.97	5.97	0.96955	Kelch-type beta propeller (1);	0.000000	0.51477	D	0.000089	T	0.72598	0.3480	L	0.29908	0.895	0.37093	D	0.899538	D	0.71674	0.998	D	0.73708	0.981	T	0.73685	-0.3905	10	0.37606	T	0.19	-20.2399	15.9243	0.79603	0.0:0.0:1.0:0.0	.	281	Q13939	CALI_HUMAN	M	281	ENSP00000334996:V281M	ENSP00000334996:V281M	V	+	1	0	CCIN	36160340	1.000000	0.71417	0.969000	0.41365	0.807000	0.45602	5.667000	0.68067	2.839000	0.97877	0.655000	0.94253	GTG	G|1.000;A|0.000		0.562	CCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052418.1	NM_005893	
CCIN	881	ucsc.edu;bcgsc.ca	37	9	36170696	36170696	+	Silent	SNP	G	G	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:36170696G>C	ENST00000335119.2	+	1	1308	c.1197G>C	c.(1195-1197)cgG>cgC	p.R399R		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	399					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			ATGATGAGCGGAAGGAAGTCT	0.557																																					p.R399R		.											.	CCIN-92	0			c.G1197C						.						152.0	116.0	129.0					9																	36170696		2203	4300	6503	SO:0001819	synonymous_variant	881	exon1			TGAGCGGAAGGAA	Z46967	CCDS6599.1	9p13.1	2013-10-02			ENSG00000185972	ENSG00000185972		"""BTB/POZ domain containing"""	1568	protein-coding gene	gene with protein product		603960				7641791	Standard	NM_005893		Approved	KBTBD14, BTBD20	uc003zzb.4	Q13939	OTTHUMG00000019901	ENST00000335119.2:c.1197G>C	9.37:g.36170696G>C		194	2		225	96	NM_005893	0	0	0	1	1	Q9BXG7	Silent	SNP	ENST00000335119.2	37	CCDS6599.1																																																																																			.		0.557	CCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052418.1	NM_005893	
FRMPD1	22844	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	37744759	37744759	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:37744759G>A	ENST00000539465.1	+	16	3323	c.2730G>A	c.(2728-2730)gaG>gaA	p.E910E	FRMPD1_ENST00000377765.3_Silent_p.E910E|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	910						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CTCTGAGGGAGACCAAGAGCA	0.577																																					p.E910E		.											.	FRMPD1-159	0			c.G2730A						.						66.0	61.0	63.0					9																	37744759		2203	4300	6503	SO:0001819	synonymous_variant	22844	exon16			GAGGGAGACCAAG	AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.2730G>A	9.37:g.37744759G>A		86	2		88	43	NM_014907	0	0	0	0	0	B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Silent	SNP	ENST00000539465.1	37	CCDS6612.1																																																																																			.		0.577	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907	
FRMPD1	22844	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	37745283	37745283	+	Missense_Mutation	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:37745283A>G	ENST00000539465.1	+	16	3847	c.3254A>G	c.(3253-3255)gAt>gGt	p.D1085G	FRMPD1_ENST00000377765.3_Missense_Mutation_p.D1085G|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1085						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CCTAGAAGTGATGAATGTGGA	0.403																																					p.D1085G		.											.	FRMPD1-159	0			c.A3254G						.						86.0	91.0	89.0					9																	37745283		2203	4300	6503	SO:0001583	missense	22844	exon16			GAAGTGATGAATG	AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.3254A>G	9.37:g.37745283A>G	ENSP00000444411:p.Asp1085Gly	72	0		91	32	NM_014907	0	0	0	0	0	B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	ENST00000539465.1	37	CCDS6612.1	.	.	.	.	.	.	.	.	.	.	A	6.417	0.444995	0.12164	.	.	ENSG00000070601	ENST00000377765;ENST00000539465	T;T	0.06142	3.34;3.34	5.11	-0.671	0.11381	.	1.316600	0.05633	N	0.582032	T	0.02012	0.0063	N	0.01576	-0.805	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42137	-0.9469	10	0.05959	T	0.93	0.8571	5.3293	0.15924	0.227:0.3047:0.4683:0.0	.	1085	Q5SYB0	FRPD1_HUMAN	G	1085	ENSP00000366995:D1085G;ENSP00000444411:D1085G	ENSP00000366995:D1085G	D	+	2	0	FRMPD1	37735283	0.000000	0.05858	0.000000	0.03702	0.942000	0.58702	-0.078000	0.11375	-0.489000	0.06716	0.379000	0.24179	GAT	.		0.403	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907	
CNTNAP3	79937	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	39109179	39109179	+	Silent	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:39109179C>T	ENST00000297668.6	-	15	2416	c.2343G>A	c.(2341-2343)ggG>ggA	p.G781G	CNTNAP3_ENST00000358144.2_Silent_p.G693G|CNTNAP3_ENST00000377656.2_Silent_p.G780G	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	781	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		AGAGCAGTGGCCCCAGTGTAT	0.448																																					p.G781G		.											.	CNTNAP3-91	0			c.G2343A						.						54.0	49.0	50.0					9																	39109179		2203	4300	6503	SO:0001819	synonymous_variant	79937	exon15			CAGTGGCCCCAGT	AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"""cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"""	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.2343G>A	9.37:g.39109179C>T		389	0		456	202	NM_033655	0	0	0	3	3	B1AMA0|Q9C0E9	Silent	SNP	ENST00000297668.6	37	CCDS6616.1																																																																																			.		0.448	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052511.1	NM_033655	
PRKACG	5568	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	71628334	71628334	+	Silent	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:71628334T>C	ENST00000377276.2	-	1	705	c.675A>G	c.(673-675)ctA>ctG	p.L225L		NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic, gamma	225	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|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)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|male gonad development (GO:0008584)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	cytosol (GO:0005829)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						TGAGCACCCCTAGGGCCCACC	0.612																																					p.L225L	Esophageal Squamous(110;2236 2623 32146)	.											.	PRKACG-1061	0			c.A675G						.						66.0	63.0	64.0					9																	71628334		2203	4300	6503	SO:0001819	synonymous_variant	5568	exon1			CACCCCTAGGGCC	M34182	CCDS6625.1	9q13	2012-10-02			ENSG00000165059	ENSG00000165059	2.7.11.1		9382	protein-coding gene	gene with protein product		176893				2342480, 9598317	Standard	NM_002732		Approved	PKACg	uc004agy.3	P22612	OTTHUMG00000019974	ENST00000377276.2:c.675A>G	9.37:g.71628334T>C		69	0		105	47	NM_002732	0	0	0	0	0	O60850|Q5VZ02|Q86YI1	Silent	SNP	ENST00000377276.2	37	CCDS6625.1																																																																																			.		0.612	PRKACG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052559.1		
TJP2	9414	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	71831374	71831374	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:71831374G>A	ENST00000377245.4	+	3	442	c.234G>A	c.(232-234)ctG>ctA	p.L78L	TJP2_ENST00000453658.2_Silent_p.L55L|TJP2_ENST00000348208.4_Silent_p.L78L|TJP2_ENST00000539225.1_Silent_p.L109L|TJP2_ENST00000535702.1_Silent_p.L82L|TJP2_ENST00000377259.1_Silent_p.L55L|TJP2_ENST00000265384.7_Silent_p.L78L	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	78	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|hippo signaling (GO:0035329)|nucleotide phosphorylation (GO:0046939)|response to organic substance (GO:0010033)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	guanylate kinase activity (GO:0004385)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						CTGATGGGCTGCTCCAGTGAG	0.532																																					p.L109L		.											.	TJP2-115	0			c.G327A						.						78.0	69.0	72.0					9																	71831374		2203	4300	6503	SO:0001819	synonymous_variant	9414	exon3			TGGGCTGCTCCAG	L27476	CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1	9q13-q21	2012-07-12	2012-07-12		ENSG00000119139	ENSG00000119139			11828	protein-coding gene	gene with protein product	"""Friedreich ataxia region gene X104 (tight junction protein ZO-2)"", ""zona occludens 2"""	607709	"""deafness, autosomal dominant 51"""	DFNA51		7951235, 20602916	Standard	NM_001170630		Approved	ZO-2, X104, ZO2	uc011lrv.2	Q9UDY2	OTTHUMG00000019978	ENST00000377245.4:c.234G>A	9.37:g.71831374G>A		47	1		49	22	NM_001170416	0	0	0	0	0	A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	Silent	SNP	ENST00000377245.4	37	CCDS6627.1																																																																																			.		0.532	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052572.2	NM_201629	
APBA1	320	hgsc.bcm.edu	37	9	72131953	72131953	+	Silent	SNP	C	C	T	rs149995729	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:72131953C>T	ENST00000265381.4	-	2	396	c.174G>A	c.(172-174)gaG>gaA	p.E58E		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	58					axon cargo transport (GO:0008088)|cell adhesion (GO:0007155)|gamma-aminobutyric acid secretion (GO:0014051)|glutamate secretion (GO:0014047)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein complex assembly (GO:0006461)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	beta-amyloid binding (GO:0001540)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						CGCGGAGGTCCTCGAGGGCTC	0.711													C|||	20	0.00399361	0.0	0.0072	5008	,	,		13816	0.0		0.0119	False		,,,				2504	0.0031				p.E58E		.											.	APBA1-91	0			c.G174A						.	C		4,4360		0,4,2178	11.0	11.0	11.0		174	2.2	0.9	9	dbSNP_134	11	136,8348		1,134,4107	no	coding-synonymous	APBA1	NM_001163.3		1,138,6285	TT,TC,CC		1.603,0.0917,1.0897		58/838	72131953	140,12708	2182	4242	6424	SO:0001819	synonymous_variant	320	exon2			GAGGTCCTCGAGG	AF029106	CCDS6630.1	9q13-q21	2008-07-18	2008-07-18		ENSG00000107282	ENSG00000107282			578	protein-coding gene	gene with protein product		602414		MINT1		7678331, 7719031	Standard	NM_001163		Approved	D9S411E, X11	uc004ahh.2	Q02410	OTTHUMG00000019984	ENST00000265381.4:c.174G>A	9.37:g.72131953C>T		0	0		38	21	NM_001163	0	0	0	0	0	O14914|O60570|Q5VYR8	Silent	SNP	ENST00000265381.4	37	CCDS6630.1																																																																																			C|0.995;T|0.005		0.711	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052589.2	NM_001163	
PRUNE2	158471	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	79325100	79325100	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:79325100C>T	ENST00000376718.3	-	8	2213	c.2090G>A	c.(2089-2091)aGa>aAa	p.R697K	PRUNE2_ENST00000428286.1_Missense_Mutation_p.R338K	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	697					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						ATCTGAGGCTCTCCTATCAAT	0.443																																					p.R697K		.											.	PRUNE2-157	0			c.G2090A						.						46.0	42.0	43.0					9																	79325100		1568	3582	5150	SO:0001583	missense	158471	exon8			GAGGCTCTCCTAT	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.2090G>A	9.37:g.79325100C>T	ENSP00000365908:p.Arg697Lys	47	0		64	29	NM_015225	0	0	0	0	0	B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	C	12.22	1.871715	0.33069	.	.	ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033	T;T	0.24538	1.85;1.85	5.86	4.97	0.65823	.	0.359607	0.24217	N	0.040463	T	0.47135	0.1429	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.69307	0.963	T	0.48502	-0.9030	10	0.87932	D	0	-18.0451	10.5739	0.45217	0.0:0.7976:0.1339:0.0685	.	697	Q8WUY3	PRUN2_HUMAN	K	697;338;696	ENSP00000365908:R697K;ENSP00000397425:R338K	ENSP00000365908:R697K	R	-	2	0	PRUNE2	78514920	1.000000	0.71417	0.995000	0.50966	0.045000	0.14185	2.062000	0.41413	1.498000	0.48600	-0.127000	0.14921	AGA	.		0.443	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818	
TLE4	7091	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	82267520	82267520	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:82267520G>A	ENST00000376552.2	+	7	1421	c.403G>A	c.(403-405)Gcc>Acc	p.A135T	TLE4_ENST00000455913.1_3'UTR|TLE4_ENST00000376537.4_Missense_Mutation_p.A135T|TLE4_ENST00000376544.3_Missense_Mutation_p.A135T|TLE4_ENST00000265284.6_Missense_Mutation_p.A110T|TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000376520.4_Missense_Mutation_p.A135T	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4	135	Gln-rich (Q domain).				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						ACAACTCCAGGCCCAGCATTT	0.532																																					p.A135T		.											.	TLE4-524	0			c.G403A						.						104.0	112.0	109.0					9																	82267520		2042	4183	6225	SO:0001583	missense	7091	exon7			CTCCAGGCCCAGC	M99439	CCDS43837.1, CCDS65069.1, CCDS65070.1, CCDS75851.1	9q21.32	2014-03-07	2014-03-07		ENSG00000106829	ENSG00000106829		"""WD repeat domain containing"""	11840	protein-coding gene	gene with protein product		605132	"""transducin-like enhancer of split 4, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005252167		Approved	E(spI), ESG, GRG4	uc004alc.3	Q04727	OTTHUMG00000020072	ENST00000376552.2:c.403G>A	9.37:g.82267520G>A	ENSP00000365735:p.Ala135Thr	112	0		116	53	NM_007005	0	0	2	2	0	F8W6T6|Q3ZCS1|Q5T1Y2|Q6PCB3|Q9BZ07|Q9BZ08|Q9BZ09|Q9NSL3|Q9ULF9	Missense_Mutation	SNP	ENST00000376552.2	37	CCDS43837.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.481729	0.84747	.	.	ENSG00000106829	ENST00000376552;ENST00000376544;ENST00000376520;ENST00000399288;ENST00000435650;ENST00000414465;ENST00000376537;ENST00000265284;ENST00000425506;ENST00000428713;ENST00000490347	T;T;T;T;T;T;T;T;T	0.52295	0.7;0.67;0.73;0.72;0.74;0.68;0.8;1.36;1.72	6.17	6.17	0.99709	Groucho/TLE, N-terminal Q-rich domain (1);	0.000000	0.85682	D	0.000000	T	0.63367	0.2505	M	0.87547	2.89	0.80722	D	1	P;B;P;B	0.44521	0.705;0.11;0.837;0.38	B;B;B;B	0.43990	0.326;0.056;0.438;0.299	T	0.69320	-0.5176	10	0.72032	D	0.01	-21.9341	20.8794	0.99867	0.0:0.0:1.0:0.0	.	110;135;135;135	F8W6T6;Q04727-2;Q04727-3;Q04727	.;.;.;TLE4_HUMAN	T	135;135;135;149;149;121;135;110;133;120;5	ENSP00000365735:A135T;ENSP00000365727:A135T;ENSP00000365703:A135T;ENSP00000415423:A149T;ENSP00000365720:A135T;ENSP00000265284:A110T;ENSP00000412567:A133T;ENSP00000409313:A120T;ENSP00000417844:A5T	ENSP00000265284:A110T	A	+	1	0	TLE4	81457340	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	9.040000	0.93783	2.941000	0.99782	0.655000	0.94253	GCC	.		0.532	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052792.4	XM_212237	
TLE4	7091	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	82267635	82267635	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:82267635C>T	ENST00000376552.2	+	7	1536	c.518C>T	c.(517-519)tCc>tTc	p.S173F	TLE4_ENST00000455913.1_3'UTR|TLE4_ENST00000376537.4_Missense_Mutation_p.S173F|TLE4_ENST00000376544.3_Missense_Mutation_p.S173F|TLE4_ENST00000265284.6_Missense_Mutation_p.S148F|TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000376520.4_Missense_Mutation_p.S173F	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4	173	Gly/Pro-rich (GP domain).				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CTGGCCCTCTCCAGTGCTCTA	0.542																																					p.S173F		.											.	TLE4-524	0			c.C518T						.						97.0	97.0	97.0					9																	82267635		1947	4145	6092	SO:0001583	missense	7091	exon7			CCCTCTCCAGTGC	M99439	CCDS43837.1, CCDS65069.1, CCDS65070.1, CCDS75851.1	9q21.32	2014-03-07	2014-03-07		ENSG00000106829	ENSG00000106829		"""WD repeat domain containing"""	11840	protein-coding gene	gene with protein product		605132	"""transducin-like enhancer of split 4, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005252167		Approved	E(spI), ESG, GRG4	uc004alc.3	Q04727	OTTHUMG00000020072	ENST00000376552.2:c.518C>T	9.37:g.82267635C>T	ENSP00000365735:p.Ser173Phe	74	0		96	43	NM_007005	0	0	9	18	9	F8W6T6|Q3ZCS1|Q5T1Y2|Q6PCB3|Q9BZ07|Q9BZ08|Q9BZ09|Q9NSL3|Q9ULF9	Missense_Mutation	SNP	ENST00000376552.2	37	CCDS43837.1	.	.	.	.	.	.	.	.	.	.	C	19.44	3.828807	0.71258	.	.	ENSG00000106829	ENST00000376552;ENST00000376544;ENST00000376520;ENST00000399288;ENST00000435650;ENST00000376537;ENST00000265284;ENST00000425506;ENST00000428713;ENST00000490347	T;T;T;T;T;T;T;T;T	0.52295	0.67;0.67;0.74;0.69;0.74;0.72;0.71;1.3;1.39	6.04	6.04	0.98038	.	0.107189	0.64402	D	0.000004	T	0.62502	0.2433	M	0.76170	2.325	0.80722	D	1	P;P;P;P	0.48230	0.723;0.729;0.907;0.76	P;P;P;P	0.54401	0.664;0.474;0.751;0.568	T	0.55114	-0.8191	10	0.09590	T	0.72	-20.5216	20.5948	0.99439	0.0:1.0:0.0:0.0	.	148;173;173;173	F8W6T6;Q04727-2;Q04727-3;Q04727	.;.;.;TLE4_HUMAN	F	173;173;173;187;187;173;148;171;158;43	ENSP00000365735:S173F;ENSP00000365727:S173F;ENSP00000365703:S173F;ENSP00000415423:S187F;ENSP00000365720:S173F;ENSP00000265284:S148F;ENSP00000412567:S171F;ENSP00000409313:S158F;ENSP00000417844:S43F	ENSP00000265284:S148F	S	+	2	0	TLE4	81457455	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	5.677000	0.68142	2.873000	0.98535	0.563000	0.77884	TCC	.		0.542	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052792.4	XM_212237	
FRMD3	257019	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	85926825	85926825	+	Missense_Mutation	SNP	A	A	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:85926825A>T	ENST00000304195.3	-	8	956	c.750T>A	c.(748-750)aaT>aaA	p.N250K	FRMD3_ENST00000376438.1_Missense_Mutation_p.N250K|FRMD3_ENST00000376434.1_Missense_Mutation_p.N56K	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	250	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						GGATTCTCTTATTTCCCTGAA	0.383																																					p.N250K		.											.	FRMD3-91	0			c.T750A						.						93.0	87.0	89.0					9																	85926825		1827	4097	5924	SO:0001583	missense	257019	exon8			TCTCTTATTTCCC	AK094281	CCDS43840.1, CCDS59131.1, CCDS59132.1, CCDS59133.1, CCDS75852.1	9q21.33	2008-02-05			ENSG00000172159	ENSG00000172159			24125	protein-coding gene	gene with protein product		607619				12601556	Standard	NM_174938		Approved	EPB41L4O, MGC20553	uc004ams.2	A2A2Y4	OTTHUMG00000020103	ENST00000304195.3:c.750T>A	9.37:g.85926825A>T	ENSP00000303508:p.Asn250Lys	30	0		35	15	NM_174938	0	0	4	4	0	A8MQB0|B4DN14|Q53EP2|Q5JV59|Q5VZA1|Q86WP8|Q8IZ44|Q8N3Y5|Q8N9L2	Missense_Mutation	SNP	ENST00000304195.3	37	CCDS43840.1	.	.	.	.	.	.	.	.	.	.	A	19.02	3.746259	0.69418	.	.	ENSG00000172159	ENST00000376438;ENST00000376434;ENST00000304195;ENST00000431299;ENST00000376422	D;D;D;D	0.87729	-2.29;-2.29;-2.29;-2.29	5.39	5.39	0.77823	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.88108	0.6348	L	0.31420	0.93	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.75020	0.985;0.974	D	0.87546	0.2462	10	0.44086	T	0.13	.	10.3504	0.43931	0.9225:0.0:0.0775:0.0	.	250;250	A2A2Y4;A2A2Y4-2	FRMD3_HUMAN;.	K	250;56;250;19;146	ENSP00000365621:N250K;ENSP00000365617:N56K;ENSP00000303508:N250K;ENSP00000412719:N19K	ENSP00000303508:N250K	N	-	3	2	FRMD3	85116645	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.863000	0.56016	2.036000	0.60181	0.460000	0.39030	AAT	.		0.383	FRMD3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157355.1	NM_174938	
KIF27	55582	bcgsc.ca	37	9	86504166	86504166	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:86504166G>A	ENST00000297814.2	-	7	1955	c.1812C>T	c.(1810-1812)gtC>gtT	p.V604V	KIF27_ENST00000413982.1_Silent_p.V604V|KIF27_ENST00000376347.1_5'UTR|KIF27_ENST00000334204.2_Silent_p.V604V	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	604					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						GACTTGTGTGGACCTTGCAAG	0.388																																					p.V604V		.											.	KIF27-523	0			c.C1812T						.						112.0	111.0	111.0					9																	86504166		2203	4300	6503	SO:0001819	synonymous_variant	55582	exon7			TGTGTGGACCTTG	AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"""Kinesins"""	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.1812C>T	9.37:g.86504166G>A		138	3		134	63	NM_017576	0	0	4	4	0	B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Silent	SNP	ENST00000297814.2	37	CCDS6665.1																																																																																			.		0.388	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052861.1	NM_017576	
AGTPBP1	23287	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	88248284	88248284	+	Silent	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:88248284A>G	ENST00000357081.3	-	14	1452	c.1308T>C	c.(1306-1308)taT>taC	p.Y436Y	AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000432218.1_Silent_p.Y274Y|AGTPBP1_ENST00000376083.3_Silent_p.Y396Y|AGTPBP1_ENST00000376109.3_Silent_p.Y448Y			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	436					adult walking behavior (GO:0007628)|C-terminal protein deglutamylation (GO:0035609)|cerebellar Purkinje cell differentiation (GO:0021702)|eye photoreceptor cell differentiation (GO:0001754)|mitochondrion organization (GO:0007005)|neuromuscular process (GO:0050905)|neurotransmitter metabolic process (GO:0042133)|olfactory bulb development (GO:0021772)|protein side chain deglutamylation (GO:0035610)|retina development in camera-type eye (GO:0060041)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						AGATTAAATCATAGTCCTTTG	0.308																																					p.Y396Y		.											.	AGTPBP1-158	0			c.T1188C						.						36.0	40.0	39.0					9																	88248284		2147	4156	6303	SO:0001819	synonymous_variant	23287	exon14			TAAATCATAGTCC	AB028958	CCDS6672.1, CCDS75854.1	9q21.33	2014-06-23			ENSG00000135049	ENSG00000135049			17258	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 1"", ""tubulinyl-Tyr carboxypeptidase"", ""carboxypeptidase-tubulin"", ""tyrosine carboxypeptidase"", ""soluble carboxypeptidase"""	606830				11083920	Standard	NM_015239		Approved	KIAA1035, Nna1, CCP1	uc010mqc.3	Q9UPW5	OTTHUMG00000020124	ENST00000357081.3:c.1308T>C	9.37:g.88248284A>G		36	0		29	19	NM_015239	0	0	0	0	0	B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Silent	SNP	ENST00000357081.3	37																																																																																				.		0.308	AGTPBP1-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000052893.1	NM_015239	
NAA35	60560	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	88576991	88576991	+	Missense_Mutation	SNP	C	C	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:88576991C>G	ENST00000361671.5	+	6	545	c.412C>G	c.(412-414)Cca>Gca	p.P138A	NAA35_ENST00000376040.1_Missense_Mutation_p.P138A	NM_024635.3	NP_078911.3	Q5VZE5	NAA35_HUMAN	N(alpha)-acetyltransferase 35, NatC auxiliary subunit	138					negative regulation of apoptotic process (GO:0043066)|smooth muscle cell proliferation (GO:0048659)	cytoplasm (GO:0005737)|NatC complex (GO:0031417)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						CATTCATAATCCAGACTTTAT	0.353																																					p.P138A		.											.	NAA35-92	0			c.C412G						.						94.0	88.0	90.0					9																	88576991		2203	4300	6503	SO:0001583	missense	60560	exon6			CATAATCCAGACT	AK025266	CCDS6673.1	9q22.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000135040	ENSG00000135040		"""N(alpha)-acetyltransferase subunits"""	24340	protein-coding gene	gene with protein product			"""MAK10 homolog, amino-acid N-acetyltransferase subunit (S. cerevisiae)"""	MAK10		14702039, 19660095	Standard	NM_024635		Approved	FLJ21613, FLJ22643, bA379P1.1	uc004aoi.4	Q5VZE5	OTTHUMG00000020131	ENST00000361671.5:c.412C>G	9.37:g.88576991C>G	ENSP00000354972:p.Pro138Ala	91	0		78	39	NM_024635	0	0	6	10	4	Q5VZE6|Q9H631|Q9H703	Missense_Mutation	SNP	ENST00000361671.5	37	CCDS6673.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.771828	0.90108	.	.	ENSG00000135040	ENST00000361671;ENST00000416045;ENST00000376040	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.73048	0.3537	L	0.56340	1.77	0.80722	D	1	P;D	0.60160	0.808;0.987	B;P	0.62649	0.326;0.905	T	0.64193	-0.6465	9	0.12103	T	0.63	-8.8124	20.3138	0.98647	0.0:1.0:0.0:0.0	.	138;138	Q5VZE6;Q5VZE5	.;NAA35_HUMAN	A	138	.	ENSP00000354972:P138A	P	+	1	0	NAA35	87766811	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.347000	0.79356	2.814000	0.96858	0.585000	0.79938	CCA	.		0.353	NAA35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052906.1	NM_024635	
NFIL3	4783	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	94171973	94171973	+	Silent	SNP	C	C	T	rs141662610		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:94171973C>T	ENST00000297689.3	-	2	1438	c.1044G>A	c.(1042-1044)acG>acA	p.T348T		NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	348	Necessary for transcriptional repression and sufficient for interaction with DR1.				cellular response to interleukin-4 (GO:0071353)|circadian rhythm (GO:0007623)|immune response (GO:0006955)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|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 sequence-specific DNA binding (GO:0000979)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						AAAGTTTTTGCGTGGCCTCAA	0.423													C|||	1	0.000199681	0.0	0.0	5008	,	,		21053	0.001		0.0	False		,,,				2504	0.0				p.T348T	Esophageal Squamous(152;732 1832 10053 26981 51762)	.											.	NFIL3-90	0			c.G1044A						.	C		1,4405	2.1+/-5.4	0,1,2202	128.0	123.0	125.0		1044	-7.3	0.0	9	dbSNP_134	125	0,8600		0,0,4300	no	coding-synonymous	NFIL3	NM_005384.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		348/463	94171973	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4783	exon2			TTTTTGCGTGGCC	X64318	CCDS6690.1	9q22	2013-01-10			ENSG00000165030	ENSG00000165030		"""basic leucine zipper proteins"""	7787	protein-coding gene	gene with protein product		605327		IL3BP1		7565758, 1620116	Standard	NM_005384		Approved	E4BP4, NFIL3A, NF-IL3A	uc004arh.3	Q16649	OTTHUMG00000020209	ENST00000297689.3:c.1044G>A	9.37:g.94171973C>T		75	1		85	31	NM_005384	0	0	42	75	33	B2R9Y8|Q14211|Q6FGQ8|Q96HS0	Silent	SNP	ENST00000297689.3	37	CCDS6690.1																																																																																			C|1.000;T|0.000		0.423	NFIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053038.2	NM_005384	
WNK2	65268	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	96051773	96051773	+	Silent	SNP	C	C	T	rs370214976		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:96051773C>T	ENST00000297954.4	+	20	4848	c.4848C>T	c.(4846-4848)ggC>ggT	p.G1616G	WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000427277.2_Silent_p.G1191G|WNK2_ENST00000395477.2_Silent_p.G1579G|WNK2_ENST00000349097.3_Silent_p.G1228G|WNK2_ENST00000356055.3_5'UTR	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1616					intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						TGGAGGTGGGCGACAGAGACT	0.672																																					p.G1579G		.											.	WNK2-765	0			c.C4737T						.	C		1,4405		0,1,2202	21.0	24.0	23.0		4737	-10.4	0.0	9		23	0,8596		0,0,4298	no	coding-synonymous	WNK2	NM_006648.3		0,1,6500	TT,TC,CC		0.0,0.0227,0.0077		1579/2218	96051773	1,13001	2203	4298	6501	SO:0001819	synonymous_variant	65268	exon19			GGTGGGCGACAGA	AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"""serologically defined colon cancer antigen 43"""	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.4848C>T	9.37:g.96051773C>T		44	0		86	37	NM_006648	0	0	0	0	0	Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Silent	SNP	ENST00000297954.4	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.958|8.958	0.969915|0.969915	0.18659|0.18659	2.27E-4|2.27E-4	0.0|0.0	ENSG00000165238|ENSG00000165238	ENST00000432730;ENST00000448251;ENST00000453718|ENST00000411624	.|.	.|.	.|.	5.21|5.21	-10.4|-10.4	0.00318|0.00318	.|.	.|.	.|.	.|.	.|.	T|.	0.31136|.	0.0787|.	.|.	.|.	.|.	0.58432|0.58432	D|D	0.999998|0.999998	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.38845|.	-0.9642|.	4|.	.|.	.|.	.|.	.|.	1.1701|1.1701	0.01823|0.01823	0.269:0.112:0.2107:0.4084|0.269:0.112:0.2107:0.4084	.|.	.|.	.|.	.|.	V|X	1575;376;102|1183	.|.	.|.	A|R	+|+	2|1	0|2	WNK2|WNK2	95091594|95091594	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.992000|0.992000	0.81027|0.81027	-5.212000|-5.212000	0.00141|0.00141	-2.216000|-2.216000	0.00732|0.00732	0.561000|0.561000	0.74099|0.74099	GCG|CGA	.		0.672	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317359.1	NM_006648	
C9orf129	445577	bcgsc.ca	37	9	96097703	96097703	+	Silent	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:96097703A>G	ENST00000375419.1	-	3	681	c.318T>C	c.(316-318)tcT>tcC	p.S106S		NM_001098808.1	NP_001092278.1	Q5T035	CI129_HUMAN	chromosome 9 open reading frame 129	106	Poly-Ser.									endometrium(2)|large_intestine(1)|lung(1)|ovary(2)	6						ATGACGATGTAGAAGAGCCAG	0.632																																					p.S106S		.											.	C9orf129-23	0			c.T318C						.						21.0	24.0	23.0					9																	96097703		2200	4291	6491	SO:0001819	synonymous_variant	445577	exon3			CGATGTAGAAGAG		CCDS43850.1	9q22.31	2012-04-02			ENSG00000204352	ENSG00000204352			31116	protein-coding gene	gene with protein product							Standard	NM_001098808		Approved	bA165J3.3	uc010mre.3	Q5T035	OTTHUMG00000020248	ENST00000375419.1:c.318T>C	9.37:g.96097703A>G		694	3		919	345	NM_001098808	0	0	121	122	1		Silent	SNP	ENST00000375419.1	37	CCDS43850.1																																																																																			.		0.632	C9orf129-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053147.1	NM_001098808	
FAM120A	23196	bcgsc.ca	37	9	96326794	96326794	+	Missense_Mutation	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:96326794A>G	ENST00000277165.6	+	18	3523	c.3329A>G	c.(3328-3330)gAg>gGg	p.E1110G	FAM120A_ENST00000340893.4_Missense_Mutation_p.E1064G|FAM120A_ENST00000333936.5_Missense_Mutation_p.E1138G|AL353629.1_ENST00000582353.1_RNA	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	1110	RNA binding.					cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GCTGCTCTGGAGGCAGCTGTC	0.408																																					p.E1110G		.											.	FAM120A-90	0			c.A3329G						.						53.0	58.0	57.0					9																	96326794		2203	4300	6503	SO:0001583	missense	23196	exon18			CTCTGGAGGCAGC	AF214737	CCDS6706.1, CCDS75859.1	9q22.31	2013-03-08	2006-07-04	2006-07-04	ENSG00000048828	ENSG00000048828			13247	protein-coding gene	gene with protein product	"""DNA polymerase-transactivated protein 1"", ""oxidative stess-associated Src activator"""	612265	"""chromosome 9 open reading frame 10"""	C9orf10		14585507	Standard	NM_001286722		Approved	KIAA0183, DNAPTP1, OSSA	uc004atw.3	Q9NZB2	OTTHUMG00000020252	ENST00000277165.6:c.3329A>G	9.37:g.96326794A>G	ENSP00000277165:p.Glu1110Gly	103	3		105	44	NM_014612	0	0	63	136	73	A6NGU0|C4AMC6|O60649|Q14688|Q4VXF4|Q4VXF5|Q4VXG2|Q86V69|Q96I21|Q9NZB1	Missense_Mutation	SNP	ENST00000277165.6	37	CCDS6706.1	.	.	.	.	.	.	.	.	.	.	A	9.252	1.040994	0.19669	.	.	ENSG00000048828	ENST00000277165;ENST00000333936;ENST00000340893;ENST00000427765	T;T;T;T	0.49432	1.4;1.37;1.36;0.78	5.54	5.54	0.83059	.	0.085673	0.50627	D	0.000116	T	0.30854	0.0778	N	0.14661	0.345	0.38045	D	0.9356	B;B;B	0.31817	0.341;0.0;0.341	B;B;B	0.28011	0.085;0.0;0.085	T	0.22661	-1.0210	10	0.21540	T	0.41	-15.9429	15.6735	0.77297	1.0:0.0:0.0:0.0	.	1064;1138;1110	Q9NZB2-4;Q9NZB2-6;Q9NZB2	.;.;F120A_HUMAN	G	1110;1138;1064;486	ENSP00000277165:E1110G;ENSP00000334918:E1138G;ENSP00000344698:E1064G;ENSP00000412440:E486G	ENSP00000277165:E1110G	E	+	2	0	FAM120A	95366615	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.963000	0.56773	2.107000	0.64212	0.533000	0.62120	GAG	.		0.408	FAM120A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053160.2	NM_014612	
PTCH1	5727	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	98244481	98244481	+	Missense_Mutation	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:98244481A>G	ENST00000331920.6	-	4	888	c.589T>C	c.(589-591)Tgg>Cgg	p.W197R	PTCH1_ENST00000429896.2_Missense_Mutation_p.W46R|PTCH1_ENST00000468211.2_Missense_Mutation_p.W131R|PTCH1_ENST00000430669.2_Missense_Mutation_p.W131R|PTCH1_ENST00000421141.1_Missense_Mutation_p.W46R|PTCH1_ENST00000437951.1_Missense_Mutation_p.W131R|PTCH1_ENST00000418258.1_Missense_Mutation_p.W46R|PTCH1_ENST00000375274.2_Missense_Mutation_p.W196R|PTCH1_ENST00000548379.1_5'UTR	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	197					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				TCCAATTTCCACTGCCTAATA	0.313																																					p.W197R		.											.	PTCH1-3532	0			c.T589C						.						73.0	71.0	72.0					9																	98244481		2203	4300	6503	SO:0001583	missense	5727	exon4			ATTTCCACTGCCT	AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"""patched (Drosophila) homolog"", ""patched homolog (Drosophila)"", ""patched homolog 1 (Drosophila)"""	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.589T>C	9.37:g.98244481A>G	ENSP00000332353:p.Trp197Arg	39	0		50	20	NM_000264	0	0	0	0	0	A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP	ENST00000331920.6	37	CCDS6714.1	.	.	.	.	.	.	.	.	.	.	A	18.36	3.606439	0.66445	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000430669;ENST00000429896;ENST00000375274;ENST00000553011;ENST00000551845;ENST00000547672;ENST00000546820;ENST00000468211;ENST00000551630	D;D;D;D;D;D;D;D;D;D;D;D;T	0.99264	-1.62;-3.62;-5.65;-5.65;-3.62;-5.65;-3.69;-3.61;-3.61;-3.61;-3.61;-1.62;1.07	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	D	0.99387	0.9784	M	0.81341	2.54	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.99107	1.0845	10	0.59425	D	0.04	-14.6376	16.4608	0.84044	1.0:0.0:0.0:0.0	.	131;196;197	Q13635-3;Q13635-2;Q13635	.;.;PTC1_HUMAN	R	197;131;46;46;131;46;196;46;46;46;46;131;46	ENSP00000332353:W197R;ENSP00000389744:W131R;ENSP00000399981:W46R;ENSP00000396135:W46R;ENSP00000410287:W131R;ENSP00000414823:W46R;ENSP00000364423:W196R;ENSP00000447797:W46R;ENSP00000447008:W46R;ENSP00000447878:W46R;ENSP00000448843:W46R;ENSP00000449745:W131R;ENSP00000450131:W46R	ENSP00000332353:W197R	W	-	1	0	PTCH1	97284302	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	8.927000	0.92846	2.288000	0.76882	0.533000	0.62120	TGG	.		0.313	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264	
ZNF367	195828	hgsc.bcm.edu;mdanderson.org	37	9	99180071	99180071	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:99180071G>A	ENST00000375256.4	-	1	540	c.244C>T	c.(244-246)Ctc>Ttc	p.L82F		NM_153695.3	NP_710162.1	Q7RTV3	ZN367_HUMAN	zinc finger protein 367	82					regulation of transcription from RNA polymerase II promoter (GO:0006357)|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)			cervix(1)|endometrium(4)|large_intestine(3)|lung(3)|prostate(1)	12		Acute lymphoblastic leukemia(62;0.0167)				CCAGGGCTGAGCGTCACGTTG	0.786																																					p.L82F		.											.	ZNF367-90	0			c.C244T						.						4.0	5.0	5.0					9																	99180071		1988	3955	5943	SO:0001583	missense	195828	exon1			GGCTGAGCGTCAC	AK091289	CCDS6718.1	9q22	2008-05-02			ENSG00000165244	ENSG00000165244		"""Zinc fingers, C2H2-type"""	18320	protein-coding gene	gene with protein product		610160					Standard	NM_153695		Approved	FLJ33970	uc004awf.3	Q7RTV3	OTTHUMG00000020295	ENST00000375256.4:c.244C>T	9.37:g.99180071G>A	ENSP00000364405:p.Leu82Phe	9	0		32	11	NM_153695	0	0	2	2	0	Q6Q7C8	Missense_Mutation	SNP	ENST00000375256.4	37	CCDS6718.1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.766132	0.69878	.	.	ENSG00000165244	ENST00000375256	T	0.07800	3.16	3.24	3.24	0.37175	.	0.000000	0.64402	D	0.000002	T	0.23014	0.0556	L	0.55990	1.75	0.58432	D	0.999999	D;D	0.76494	0.999;0.998	D;D	0.87578	0.998;0.991	T	0.01743	-1.1283	10	0.48119	T	0.1	-9.5784	14.6854	0.69047	0.0:0.0:1.0:0.0	.	82;82	Q7RTV3-2;Q7RTV3	.;ZN367_HUMAN	F	82	ENSP00000364405:L82F	ENSP00000364405:L82F	L	-	1	0	ZNF367	98219892	1.000000	0.71417	1.000000	0.80357	0.718000	0.41266	6.267000	0.72546	1.667000	0.50832	0.306000	0.20318	CTC	.		0.786	ZNF367-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053266.1		
OR13C8	138802	broad.mit.edu	37	9	107331903	107331903	+	Missense_Mutation	SNP	G	G	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:107331903G>T	ENST00000335040.1	+	1	455	c.455G>T	c.(454-456)gGg>gTg	p.G152V		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	152						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(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						TGGGTCACTGGGCTTGTGGAC	0.493																																					p.G152V		.											.	OR13C8-70	0			c.G455T						.						114.0	103.0	107.0					9																	107331903		2203	4300	6503	SO:0001583	missense	138802	exon1			TCACTGGGCTTGT		CCDS35090.1	9q31.1	2013-09-24			ENSG00000186943	ENSG00000186943		"""GPCR / Class A : Olfactory receptors"""	15103	protein-coding gene	gene with protein product							Standard	NM_001004483		Approved		uc011lvo.2	Q8NGS7	OTTHUMG00000020409	ENST00000335040.1:c.455G>T	9.37:g.107331903G>T	ENSP00000334068:p.Gly152Val	73	0		74	3	NM_001004483	0	0	0	0	0	Q5VVG0|Q96R44	Missense_Mutation	SNP	ENST00000335040.1	37	CCDS35090.1	.	.	.	.	.	.	.	.	.	.	G	13.33	2.203888	0.38905	.	.	ENSG00000186943	ENST00000335040	T	0.39056	1.1	5.18	5.18	0.71444	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000030	T	0.73528	0.3598	M	0.93854	3.465	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.80388	-0.1403	10	0.87932	D	0	.	16.576	0.84648	0.0:0.0:1.0:0.0	.	152	Q8NGS7	O13C8_HUMAN	V	152	ENSP00000334068:G152V	ENSP00000334068:G152V	G	+	2	0	OR13C8	106371724	0.949000	0.32298	0.356000	0.25785	0.043000	0.13939	2.240000	0.43088	2.850000	0.98022	0.655000	0.94253	GGG	.		0.493	OR13C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053480.1		
SLC44A1	23446	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	108126992	108126992	+	Missense_Mutation	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:108126992A>G	ENST00000374720.3	+	10	1491	c.1244A>G	c.(1243-1245)tAt>tGt	p.Y415C	SLC44A1_ENST00000374724.1_Missense_Mutation_p.Y415C|SLC44A1_ENST00000374723.1_Missense_Mutation_p.Y415C|SLC44A1_ENST00000343170.7_Missense_Mutation_p.Y207C	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	415					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	GTAACATACTATTTTACTAGG	0.468																																					p.Y415C		.											.	SLC44A1-94	0			c.A1244G						.						109.0	101.0	103.0					9																	108126992		2203	4300	6503	SO:0001583	missense	23446	exon10			CATACTATTTTAC	AJ420812	CCDS6763.1, CCDS75868.1	9q31.2	2014-01-28	2013-07-17	2005-09-06	ENSG00000070214	ENSG00000070214		"""CD molecules"", ""Solute carriers"""	18798	protein-coding gene	gene with protein product		606105	"""CDW92 antigen"""	CDW92		11698453, 10677542	Standard	NM_080546		Approved	CDw92, CTL1, CHTL1, CD92	uc004bcn.3	Q8WWI5	OTTHUMG00000020421	ENST00000374720.3:c.1244A>G	9.37:g.108126992A>G	ENSP00000363852:p.Tyr415Cys	130	0		163	66	NM_080546	0	0	0	0	0	A6NLZ9|Q5VUB3|Q8WVB0|Q96KU3|Q9NY69	Missense_Mutation	SNP	ENST00000374720.3	37	CCDS6763.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.476036	0.84640	.	.	ENSG00000070214	ENST00000374723;ENST00000374720;ENST00000374724;ENST00000343170	T;T;T;T	0.59502	0.26;0.26;0.26;0.26	5.72	5.72	0.89469	.	0.056302	0.64402	D	0.000001	D	0.82296	0.5006	M	0.93594	3.435	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.997;0.979	D	0.87153	0.2210	10	0.87932	D	0	-13.7914	16.0168	0.80445	1.0:0.0:0.0:0.0	.	415;415;415	Q8WWI5-3;Q8WWI5-2;Q8WWI5	.;.;CTL1_HUMAN	C	415;415;415;207	ENSP00000363855:Y415C;ENSP00000363852:Y415C;ENSP00000363856:Y415C;ENSP00000341856:Y207C	ENSP00000341856:Y207C	Y	+	2	0	SLC44A1	107166813	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.417000	0.80156	2.194000	0.70268	0.528000	0.53228	TAT	.		0.468	SLC44A1-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053500.1	NM_080546	
FAM206A	54942	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	9	111696815	111696815	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:111696815G>A	ENST00000322940.6	+	1	355	c.49G>A	c.(49-51)Gat>Aat	p.D17N	IKBKAP_ENST00000374647.5_5'Flank|IKBKAP_ENST00000537196.1_5'Flank|FAM206A_ENST00000466200.1_3'UTR|FAM206A_ENST00000374624.3_Missense_Mutation_p.D17N	NM_017832.3	NP_060302.1	Q9NX38	F206A_HUMAN	family with sequence similarity 206, member A	17						nucleus (GO:0005634)											TTCGCTCGTGGATCGATACTT	0.642																																					p.D17N		.											.	.	0			c.G49A						.						63.0	45.0	51.0					9																	111696815		2203	4299	6502	SO:0001583	missense	54942	exon1			CTCGTGGATCGAT	BC015795	CCDS6774.1	9q31	2011-08-15	2011-08-15	2011-08-15	ENSG00000119328	ENSG00000119328			1364	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 6"""	C9orf6			Standard	NM_017832		Approved	CG-8, FLJ20457	uc004bdn.3	Q9NX38	OTTHUMG00000020467	ENST00000322940.6:c.49G>A	9.37:g.111696815G>A	ENSP00000363753:p.Asp17Asn	210	0		463	190	NM_017832	0	0	4	7	3	Q5JTR0|Q5JTR1	Missense_Mutation	SNP	ENST00000322940.6	37	CCDS6774.1	.	.	.	.	.	.	.	.	.	.	G	36	5.973746	0.97162	.	.	ENSG00000119328	ENST00000322940;ENST00000374624	D	0.84442	-1.85	5.43	5.43	0.79202	.	0.047731	0.85682	D	0.000000	D	0.90181	0.6931	M	0.83953	2.67	0.80722	D	1	D	0.59767	0.986	P	0.53266	0.722	D	0.91419	0.5157	10	0.72032	D	0.01	0.8045	15.0791	0.72099	0.0:0.0:1.0:0.0	.	17	Q9NX38	F206A_HUMAN	N	17	ENSP00000363753:D17N	ENSP00000363753:D17N	D	+	1	0	C9orf6	110736636	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	5.327000	0.65881	2.701000	0.92244	0.655000	0.94253	GAT	.		0.642	FAM206A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053582.1	NM_017832	
SVEP1	79987	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	113192665	113192665	+	Missense_Mutation	SNP	C	C	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:113192665C>G	ENST00000401783.2	-	33	5755	c.5419G>C	c.(5419-5421)Gta>Cta	p.V1807L	SVEP1_ENST00000297826.5_5'Flank|SVEP1_ENST00000374469.1_Missense_Mutation_p.V1784L	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1807	Sushi 7. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TCGGCACCTACTGTATAAATC	0.418																																					p.V1807L		.											.	SVEP1-75	0			c.G5419C						.						62.0	56.0	58.0					9																	113192665		1869	4116	5985	SO:0001583	missense	79987	exon33			CACCTACTGTATA	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.5419G>C	9.37:g.113192665C>G	ENSP00000384917:p.Val1807Leu	122	0		134	62	NM_153366	0	0	0	0	0	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	C	12.52	1.962588	0.34659	.	.	ENSG00000165124	ENST00000401783;ENST00000374469	T;T	0.65549	-0.16;-0.16	5.27	4.37	0.52481	Complement control module (2);Sushi/SCR/CCP (3);	0.101830	0.64402	N	0.000003	T	0.51210	0.1661	L	0.37800	1.135	0.80722	D	1	B	0.10296	0.003	B	0.13407	0.009	T	0.45440	-0.9261	10	0.13108	T	0.6	.	16.1253	0.81392	0.0:0.8664:0.1336:0.0	.	1807	Q4LDE5	SVEP1_HUMAN	L	1807;1784	ENSP00000384917:V1807L;ENSP00000363593:V1784L	ENSP00000363593:V1784L	V	-	1	0	SVEP1	112232486	0.994000	0.37717	0.886000	0.34754	0.794000	0.44872	2.854000	0.48325	1.434000	0.47414	0.655000	0.94253	GTA	.		0.418	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
KIAA0368	23392	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	114148674	114148674	+	Nonsense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:114148674C>T	ENST00000338205.5	-	31	3729	c.3510G>A	c.(3508-3510)tgG>tgA	p.W1170*	KIAA0368_ENST00000259335.4_Nonsense_Mutation_p.W1348*|KIAA0368_ENST00000374378.3_5'UTR			Q5VYK3	ECM29_HUMAN	KIAA0368	1176					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	centrosome (GO:0005813)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|late endosome (GO:0005770)|membrane (GO:0016020)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|proteasome complex (GO:0000502)				NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						CTCGAACTCGCCACATATTGC	0.289																																					p.W1348X		.											.	KIAA0368-68	0			c.G4044A						.						54.0	51.0	52.0					9																	114148674		1806	4074	5880	SO:0001587	stop_gained	23392	exon33			AACTCGCCACATA	AK025689	CCDS48006.1	9q32	2012-11-29	2006-11-23	2006-11-23	ENSG00000136813	ENSG00000136813			29020	protein-coding gene	gene with protein product	"""ECM29 homolog (S. cerevisiae)"""					9205841, 15496406, 20682791	Standard	NM_001080398		Approved	FLJ22036, ECM29	uc004bfe.1	Q5VYK3	OTTHUMG00000020489	ENST00000338205.5:c.3510G>A	9.37:g.114148674C>T	ENSP00000339889:p.Trp1170*	107	0		114	45	NM_001080398	0	0	26	29	3	O15074|Q8WU82	Nonsense_Mutation	SNP	ENST00000338205.5	37		.	.	.	.	.	.	.	.	.	.	C	46	12.218170	0.99647	.	.	ENSG00000136813	ENST00000338205;ENST00000259335;ENST00000543827	.	.	.	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.0394	20.547	0.99278	0.0:1.0:0.0:0.0	.	.	.	.	X	1170;1348;645	.	ENSP00000259335:W1348X	W	-	3	0	KIAA0368	113188495	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.246000	0.78247	2.850000	0.98022	0.650000	0.86243	TGG	.		0.289	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000053637.2	NM_014686	
PTBP3	9991	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	114986217	114986217	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:114986217C>T	ENST00000374255.2	-	15	1720	c.1573G>A	c.(1573-1575)Gca>Aca	p.A525T	PTBP3_ENST00000334318.6_Missense_Mutation_p.A528T|PTBP3_ENST00000458258.1_Missense_Mutation_p.A531T|PTBP3_ENST00000374257.1_Missense_Mutation_p.A497T|PTBP3_ENST00000343327.2_Missense_Mutation_p.A430T			O95758	PTBP3_HUMAN	polypyrimidine tract binding protein 3	525	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				anatomical structure morphogenesis (GO:0009653)|erythrocyte maturation (GO:0043249)|mRNA processing (GO:0006397)|negative regulation of RNA splicing (GO:0033119)|regulation of cell differentiation (GO:0045595)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										GCCTGAATTGCTTCTTCCACA	0.373																																					p.A531T		.											.	.	0			c.G1591A						.						124.0	122.0	123.0					9																	114986217		2203	4300	6503	SO:0001583	missense	9991	exon14			GAATTGCTTCTTC	AB023967	CCDS6784.1, CCDS55332.1, CCDS55333.1, CCDS59140.1, CCDS59141.1	9q32	2013-07-16	2011-11-16	2011-11-16	ENSG00000119314	ENSG00000119314		"""RNA binding motif (RRM) containing"""	10253	protein-coding gene	gene with protein product		607527	"""regulator of differentiation (in S. pombe) 1"", ""ROD1 regulator of differentiation 1 (S. pombe)"""	ROD1		10207106	Standard	NM_005156		Approved	DKFZp781I1117	uc004bfx.3	O95758	OTTHUMG00000020503	ENST00000374255.2:c.1573G>A	9.37:g.114986217C>T	ENSP00000363373:p.Ala525Thr	77	1		72	29	NM_001244898	0	0	18	40	22	B1ALY2|B1ALY3|B1ALY5|B1ALY6|B3KME7|Q68DB9|Q86YB3|Q86YH9	Missense_Mutation	SNP	ENST00000374255.2	37	CCDS6784.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.991805	0.93106	.	.	ENSG00000119314	ENST00000374257;ENST00000334318;ENST00000458258;ENST00000374255;ENST00000343327	T;T;T;T;T	0.19938	2.11;2.11;2.11;2.11;2.11	6.03	6.03	0.97812	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	.	.	.	.	T	0.63931	0.2553	H	0.96333	3.805	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.999;0.996;1.0;0.999	D;D;D;D;D	0.97110	0.999;0.999;0.985;1.0;0.985	T	0.74612	-0.3607	9	0.87932	D	0	-4.387	20.5568	0.99304	0.0:1.0:0.0:0.0	.	497;430;528;525;531	B1ALY5;B1ALY6;O95758-5;O95758;O95758-4	.;.;.;ROD1_HUMAN;.	T	497;528;531;525;430	ENSP00000363375:A497T;ENSP00000334499:A528T;ENSP00000414921:A531T;ENSP00000363373:A525T;ENSP00000340705:A430T	ENSP00000334499:A528T	A	-	1	0	ROD1	114026038	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.861000	0.98227	0.655000	0.94253	GCA	.		0.373	PTBP3-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053679.1		
RGS3	5998	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	116269609	116269609	+	Silent	SNP	C	C	T	rs567505520		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:116269609C>T	ENST00000374140.2	+	14	1337	c.1128C>T	c.(1126-1128)gtC>gtT	p.V376V	RGS3_ENST00000350696.5_Silent_p.V376V|RGS3_ENST00000317613.6_Silent_p.V264V|RGS3_ENST00000394646.3_Silent_p.V95V|RGS3_ENST00000343817.5_Silent_p.V95V|RGS3_ENST00000374136.1_Silent_p.V2V	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	376	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						GGCGCATGGTCCCCCAGGTCA	0.617																																					p.V376V		.											.	RGS3-227	0			c.C1128T						.						41.0	41.0	41.0					9																	116269609		2203	4300	6503	SO:0001819	synonymous_variant	5998	exon14			CATGGTCCCCCAG	AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"""Regulators of G-protein signaling"""	9999	protein-coding gene	gene with protein product		602189	"""regulator of G-protein signalling 3"""			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.1128C>T	9.37:g.116269609C>T		130	0		195	80	NM_144488	0	0	0	0	0	A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Silent	SNP	ENST00000374140.2	37	CCDS43869.1																																																																																			.		0.617	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055561.3	NM_017790	
TNC	3371	ucsc.edu;bcgsc.ca;mdanderson.org	37	9	117803271	117803271	+	Missense_Mutation	SNP	C	C	T	rs2274750	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:117803271C>T	ENST00000350763.4	-	19	5752	c.5341G>A	c.(5341-5343)Gcc>Acc	p.A1781T	TNC_ENST00000537320.1_Missense_Mutation_p.A1144T|TNC_ENST00000341037.4_Missense_Mutation_p.A1599T|TNC_ENST00000423613.2_Missense_Mutation_p.A1508T|TNC_ENST00000345230.3_Missense_Mutation_p.A1144T|TNC_ENST00000542877.1_Missense_Mutation_p.A1418T|TNC_ENST00000346706.3_Missense_Mutation_p.A1235T|TNC_ENST00000535648.1_Missense_Mutation_p.A1326T|TNC_ENST00000340094.3_Missense_Mutation_p.A1417T	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1781	Fibronectin type-III 13. {ECO:0000255|PROSITE-ProRule:PRU00316}.		A -> T (in dbSNP:rs2274750).		bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CCCTTCATGGCGATGATGCTG	0.507													C|||	411	0.0820687	0.0983	0.1527	5008	,	,		18369	0.1151		0.0318	False		,,,				2504	0.0276				p.A1781T		.											.	TNC-517	0			c.G5341A	GRCh37	CM067722	TNC	M	rs2274750	.	C	THR/ALA	400,4006	200.4+/-223.7	14,372,1817	198.0	166.0	177.0		5341	4.1	0.9	9	dbSNP_100	177	266,8334	102.3+/-163.5	4,258,4038	yes	missense	TNC	NM_002160.3	58	18,630,5855	TT,TC,CC		3.093,9.0785,5.1207	possibly-damaging	1781/2202	117803271	666,12340	2203	4300	6503	SO:0001583	missense	3371	exon19			TCATGGCGATGAT		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.5341G>A	9.37:g.117803271C>T	ENSP00000265131:p.Ala1781Thr	171	0		266	117	NM_002160	0	0	143	288	145	C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	CCDS6811.1	174|174	0.07967032967032966|0.07967032967032966	48|48	0.0975609756097561|0.0975609756097561	44|44	0.12154696132596685|0.12154696132596685	56|56	0.0979020979020979|0.0979020979020979	26|26	0.03430079155672823|0.03430079155672823	C|C	22.7|22.7	4.323493|4.323493	0.81580|0.81580	0.090785|0.090785	0.03093|0.03093	ENSG00000041982|ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877|ENST00000544972	T;T;T;T;T;T;T;T;T|.	0.67523|.	-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27|.	6.08|6.08	4.08|4.08	0.47627|0.47627	Fibronectin, type III (4);Immunoglobulin-like fold (1);|.	0.221485|.	0.47455|.	D|.	0.000227|.	T|T	0.04363|0.04363	0.0120|0.0120	M|M	0.89287|0.89287	3.02|3.02	0.53005|0.53005	P|P	3.399999999997849E-5|3.399999999997849E-5	D;P|.	0.61697|.	0.99;0.949|.	P;P|.	0.61132|.	0.884;0.743|.	T|T	0.58869|0.58869	-0.7560|-0.7560	9|4	0.72032|.	D|.	0.01|.	.|.	12.6089|12.6089	0.56540|0.56540	0.5553:0.4447:0.0:0.0|0.5553:0.4447:0.0:0.0	rs2274750;rs52811748;rs2274750|rs2274750;rs52811748;rs2274750	1508;1781|.	E9PC84;P24821|.	.;TENA_HUMAN|.	T|H	1417;1326;1235;1144;1781;1599;1508;1144;1418|343	ENSP00000344400:A1417T;ENSP00000438152:A1326T;ENSP00000344555:A1235T;ENSP00000345861:A1144T;ENSP00000265131:A1781T;ENSP00000339553:A1599T;ENSP00000411406:A1508T;ENSP00000443478:A1144T;ENSP00000442242:A1418T|.	ENSP00000344400:A1417T|.	A|R	-|-	1|2	0|0	TNC|TNC	116843092|116843092	0.997000|0.997000	0.39634|0.39634	0.929000|0.929000	0.37066|0.37066	0.752000|0.752000	0.42762|0.42762	2.473000|2.473000	0.45145|0.45145	1.556000|1.556000	0.49512|0.49512	0.655000|0.655000	0.94253|0.94253	GCC|CGC	C|0.937;T|0.063		0.507	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160	
ASTN2	23245	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	119488071	119488071	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:119488071G>A	ENST00000313400.4	-	16	2885	c.2785C>T	c.(2785-2787)Ctg>Ttg	p.L929L	ASTN2_ENST00000361209.2_Silent_p.L878L|ASTN2_ENST00000373996.3_Silent_p.L925L|ASTN2_ENST00000361477.3_5'UTR			O75129	ASTN2_HUMAN	astrotactin 2	929					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						TGGAGCCACAGCTGCTGCTGG	0.577																																					p.L878L		.											.	ASTN2-161	0			c.C2632T						.						168.0	158.0	161.0					9																	119488071		2203	4300	6503	SO:0001819	synonymous_variant	23245	exon15			GCCACAGCTGCTG	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.2785C>T	9.37:g.119488071G>A		120	0		122	53	NM_014010	0	0	0	4	4	A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Silent	SNP	ENST00000313400.4	37																																																																																				.		0.577	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010	
MEGF9	1955	broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	123367687	123367687	+	Silent	SNP	T	T	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:123367687T>A	ENST00000373930.3	-	6	1701	c.1590A>T	c.(1588-1590)ggA>ggT	p.G530G	MEGF9_ENST00000426959.1_Silent_p.G567G	NM_001080497.2	NP_001073966.2	Q9H1U4	MEGF9_HUMAN	multiple EGF-like-domains 9	530						integral component of membrane (GO:0016021)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						CCCCCACAAATCCCATTAGCA	0.428																																					p.G530G		.											.	.	0			c.A1590T						.						126.0	121.0	123.0					9																	123367687		1938	4161	6099	SO:0001819	synonymous_variant	1955	exon6			CACAAATCCCATT	AB011542	CCDS48010.1, CCDS48010.2	9q32-q33.3	2008-07-21	2006-03-31	2006-03-31	ENSG00000106780	ENSG00000106780			3234	protein-coding gene	gene with protein product		604268	"""EGF-like-domain, multiple 5"""	EGFL5		9693030	Standard	NM_001080497		Approved		uc022bms.1	Q9H1U4	OTTHUMG00000021039	ENST00000373930.3:c.1590A>T	9.37:g.123367687T>A		192	2		248	92	NM_001080497	0	0	2	6	4	B7Z315|O75098	Silent	SNP	ENST00000373930.3	37	CCDS48010.2																																																																																			.		0.428	MEGF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055513.1	NM_001080497	
GSN	2934	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	124064309	124064309	+	Nonsense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:124064309G>A	ENST00000373818.4	+	2	282	c.213G>A	c.(211-213)tgG>tgA	p.W71*	GSN_ENST00000436847.1_Nonsense_Mutation_p.W31*|GSN_ENST00000449733.1_Nonsense_Mutation_p.W20*|GSN_ENST00000373808.2_Nonsense_Mutation_p.W20*|GSN_ENST00000373823.3_Nonsense_Mutation_p.W20*|GSN_ENST00000341272.2_Nonsense_Mutation_p.W20*|GSN_ENST00000412819.1_Nonsense_Mutation_p.W20*|GSN_ENST00000394353.2_Nonsense_Mutation_p.W31*|GSN_ENST00000545652.1_Nonsense_Mutation_p.W28*	NM_000177.4|NM_001258029.1	NP_000168.1|NP_001244958.1	P06396	GELS_HUMAN	gelsolin	71	Actin-severing. {ECO:0000255}.				actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|aging (GO:0007568)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to cadmium ion (GO:0071276)|cilium morphogenesis (GO:0060271)|oligodendrocyte development (GO:0014003)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of cell adhesion (GO:0030155)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|tissue regeneration (GO:0042246)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						TGCAGATCTGGCGTGTGGAGA	0.602																																					p.W71X		.											.	GSN-154	0			c.G213A						.						148.0	134.0	139.0					9																	124064309		2203	4300	6503	SO:0001587	stop_gained	2934	exon2			GATCTGGCGTGTG	X04412	CCDS6828.1, CCDS6829.1, CCDS48011.1, CCDS65118.1, CCDS75890.1, CCDS75891.1	9q33	2010-04-27	2010-04-27		ENSG00000148180	ENSG00000148180			4620	protein-coding gene	gene with protein product	"""amyloidosis, Finnish type"""	137350	"""gelsolin (amyloidosis, Finnish type)"""			1652889	Standard	NM_001127662		Approved	DKFZp313L0718	uc004blf.1	P06396	OTTHUMG00000020584	ENST00000373818.4:c.213G>A	9.37:g.124064309G>A	ENSP00000362924:p.Trp71*	227	0		300	137	NM_000177	0	0	153	157	4	A2A418|A8MUD1|A8MYN7|B7Z373|B7Z5V1|F5H1A8|Q5T0I2|Q8WVV7	Nonsense_Mutation	SNP	ENST00000373818.4	37	CCDS6828.1	.	.	.	.	.	.	.	.	.	.	G	36	5.943183	0.97128	.	.	ENSG00000148180	ENST00000373823;ENST00000432226;ENST00000449773;ENST00000436847;ENST00000394353;ENST00000449733;ENST00000412819;ENST00000341272;ENST00000373808;ENST00000394352;ENST00000456109;ENST00000545652;ENST00000373818	.	.	.	5.24	4.34	0.51931	.	0.055773	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.8614	13.0997	0.59212	0.0779:0.0:0.9221:0.0	.	.	.	.	X	20;20;31;31;31;20;20;20;20;20;20;28;71	.	ENSP00000340888:W20X	W	+	3	0	GSN	123104130	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.802000	0.99131	1.187000	0.43000	0.557000	0.71058	TGG	.		0.602	GSN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053861.1	NM_000177	
OR1Q1	158131	broad.mit.edu	37	9	125377151	125377151	+	Silent	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:125377151C>T	ENST00000297913.2	+	1	204	c.135C>T	c.(133-135)atC>atT	p.I45I	RP11-64P14.7_ENST00000431442.1_RNA	NM_012364.1	NP_036496.1	Q15612	OR1Q1_HUMAN	olfactory receptor, family 1, subfamily Q, member 1	45					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)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						ACTTGGCCATCATCACACTGA	0.493																																					p.I45I		.											.	OR1Q1-69	0			c.C135T						.						263.0	233.0	243.0					9																	125377151		2203	4300	6503	SO:0001819	synonymous_variant	158131	exon1			GGCCATCATCACA		CCDS35125.1	9q33.2	2013-09-20			ENSG00000165202	ENSG00000165202		"""GPCR / Class A : Olfactory receptors"""	8223	protein-coding gene	gene with protein product				OR1Q2, OR1Q3			Standard	NM_012364		Approved	OST226, OR9-A, HSTPCR106, OST226OR9-A, TPCR106	uc011lyy.2	Q15612	OTTHUMG00000020615	ENST00000297913.2:c.135C>T	9.37:g.125377151C>T		148	0		216	6	NM_012364	0	0	0	0	0	Q6IFN4|Q8NGR7|Q96R82	Silent	SNP	ENST00000297913.2	37	CCDS35125.1																																																																																			.		0.493	OR1Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053946.1		
OR1B1	347169	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	125391061	125391061	+	Missense_Mutation	SNP	T	T	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:125391061T>A	ENST00000304833.3	-	1	791	c.754A>T	c.(754-756)Acc>Tcc	p.T252S	RP11-64P14.7_ENST00000419604.1_RNA|RP11-64P14.7_ENST00000431442.1_RNA	NM_001004450.1	NP_001004450.1	Q8NGR6	OR1B1_HUMAN	olfactory receptor, family 1, subfamily B, member 1	252						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)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)	16						CCAACCATGGTGAGGTGGGAT	0.522																																					p.T252S		.											.	OR1B1-68	0			c.A754T						.						85.0	76.0	79.0					9																	125391061		2203	4300	6503	SO:0001583	missense	347169	exon1			CCATGGTGAGGTG	AC006313	CCDS35126.1	9q33.2	2012-08-09			ENSG00000171484	ENSG00000171484		"""GPCR / Class A : Olfactory receptors"""	8181	protein-coding gene	gene with protein product							Standard	NM_001004450		Approved	OR9-B	uc011lyz.2	Q8NGR6	OTTHUMG00000020616	ENST00000304833.3:c.754A>T	9.37:g.125391061T>A	ENSP00000303151:p.Thr252Ser	139	0		136	54	NM_001004450	0	0	0	0	0	Q6IFN3	Missense_Mutation	SNP	ENST00000304833.3	37	CCDS35126.1	.	.	.	.	.	.	.	.	.	.	t	9.228	1.035045	0.19590	.	.	ENSG00000171484	ENST00000304833	T	0.38240	1.15	4.72	4.72	0.59763	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45606	D	0.000348	T	0.28699	0.0711	N	0.17278	0.47	0.26949	N	0.966071	P	0.47604	0.898	P	0.55391	0.775	T	0.18967	-1.0320	10	0.02654	T	1	-15.3896	8.3397	0.32237	0.0:0.09:0.0:0.91	.	252	Q8NGR6	OR1B1_HUMAN	S	252	ENSP00000303151:T252S	ENSP00000303151:T252S	T	-	1	0	OR1B1	124430882	0.000000	0.05858	1.000000	0.80357	0.983000	0.72400	0.143000	0.16115	2.104000	0.64026	0.524000	0.50904	ACC	.		0.522	OR1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053947.2	NM_001004450	
ZBTB6	10773	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	125673275	125673275	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:125673275G>A	ENST00000373659.3	-	2	1165	c.1077C>T	c.(1075-1077)tgC>tgT	p.C359C		NM_006626.5	NP_006617.1	Q15916	ZBTB6_HUMAN	zinc finger and BTB domain containing 6	359					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(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	11						ATGTCTTCAAGCACACAGTAC	0.448																																					p.C359C		.											.	ZBTB6-90	0			c.C1077T						.						98.0	91.0	93.0					9																	125673275		2203	4300	6503	SO:0001819	synonymous_variant	10773	exon2			CTTCAAGCACACA	X82018	CCDS6846.1	9q33.1-q33.3	2013-01-08	2006-04-10	2006-04-10	ENSG00000186130	ENSG00000186130		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	16764	protein-coding gene	gene with protein product		605976	"""zinc finger protein 482"""	ZNF482		7958847	Standard	NM_006626		Approved	ZID	uc004bnh.4	Q15916	OTTHUMG00000020628	ENST00000373659.3:c.1077C>T	9.37:g.125673275G>A		160	0		246	120	NM_006626	0	0	5	8	3	A8K8N6	Silent	SNP	ENST00000373659.3	37	CCDS6846.1																																																																																			.		0.448	ZBTB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053962.1	NM_006626	
CRB2	286204	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	126132455	126132455	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:126132455G>A	ENST00000373631.3	+	7	1124	c.1123G>A	c.(1123-1125)Gac>Aac	p.D375N	CRB2_ENST00000359999.3_Missense_Mutation_p.D375N|CRB2_ENST00000373629.2_Missense_Mutation_p.D43N	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs family member 2	375	EGF-like 8; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cardiovascular system development (GO:0072358)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|mesoderm formation (GO:0001707)|negative regulation of endopeptidase activity (GO:0010951)|notochord formation (GO:0014028)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|somitogenesis (GO:0001756)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						AACCTGCAGTGACACTGTGGC	0.607																																					p.D375N		.											.	CRB2-91	0			c.G1123A						.						56.0	59.0	58.0					9																	126132455		2202	4300	6502	SO:0001583	missense	286204	exon7			TGCAGTGACACTG	AK095783	CCDS6852.2	9q33.2	2014-02-06	2014-02-06		ENSG00000148204	ENSG00000148204			18688	protein-coding gene	gene with protein product		609720	"""crumbs homolog 2 (Drosophila)"""			14767562	Standard	XM_005251934		Approved	FLJ38464, FLJ16786	uc004bnx.1	Q5IJ48	OTTHUMG00000020638	ENST00000373631.3:c.1123G>A	9.37:g.126132455G>A	ENSP00000362734:p.Asp375Asn	70	1		75	26	NM_173689	0	0	0	0	0	A2A3N4|Q0QD46|Q5JS41|Q5JS43|Q6ZTA9|Q6ZWI6	Missense_Mutation	SNP	ENST00000373631.3	37	CCDS6852.2	.	.	.	.	.	.	.	.	.	.	G	15.16	2.750095	0.49257	.	.	ENSG00000148204	ENST00000359999;ENST00000373631;ENST00000373629	D;D;D	0.92348	-2.25;-2.25;-3.02	4.86	3.96	0.45880	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.187549	0.26166	N	0.025957	D	0.91061	0.7187	L	0.31294	0.92	0.54753	D	0.99998	D;D	0.61080	0.989;0.987	P;P	0.55965	0.788;0.728	D	0.91294	0.5061	10	0.87932	D	0	.	12.3361	0.55067	0.0826:0.0:0.9174:0.0	.	375;375	Q5IJ48;Q5IJ48-2	CRUM2_HUMAN;.	N	375;375;43	ENSP00000353092:D375N;ENSP00000362734:D375N;ENSP00000362732:D43N	ENSP00000353092:D375N	D	+	1	0	CRB2	125172276	1.000000	0.71417	0.119000	0.21687	0.024000	0.10985	6.936000	0.75892	1.029000	0.39812	0.448000	0.29417	GAC	.		0.607	CRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053990.3	NM_173689	
MAPKAP1	79109	broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	128322005	128322005	+	Missense_Mutation	SNP	T	T	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:128322005T>A	ENST00000373498.1	-	5	823	c.755A>T	c.(754-756)gAg>gTg	p.E252V	MAPKAP1_ENST00000350766.3_Missense_Mutation_p.E252V|MAPKAP1_ENST00000265960.3_Missense_Mutation_p.E252V|MAPKAP1_ENST00000373497.5_Intron|MAPKAP1_ENST00000394060.3_Missense_Mutation_p.E252V|MAPKAP1_ENST00000394063.1_Missense_Mutation_p.E60V|MAPKAP1_ENST00000373503.3_Missense_Mutation_p.E60V|MAPKAP1_ENST00000373511.2_Missense_Mutation_p.E252V			Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated protein 1	252	Interaction with NBN.				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)|negative regulation of Ras protein signal transduction (GO:0046580)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|substantia nigra development (GO:0021762)|T cell costimulation (GO:0031295)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatidic acid binding (GO:0070300)|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)|protein kinase binding (GO:0019901)|Ras GTPase binding (GO:0017016)			endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						ATGAATGGGCTCATTGGAATC	0.473																																					p.E252V		.											.	MAPKAP1-678	0			c.A755T						.						93.0	80.0	84.0					9																	128322005		2203	4300	6503	SO:0001583	missense	79109	exon6			ATGGGCTCATTGG	M37191	CCDS6864.1, CCDS35139.1, CCDS35140.1, CCDS35141.1, CCDS48020.1	9q34.11	2008-02-05			ENSG00000119487	ENSG00000119487			18752	protein-coding gene	gene with protein product	"""stress-activated protein kinase-interacting 1"""	610558				15363842	Standard	NM_001006620		Approved	MGC2745, SIN1, MIP1	uc004bpv.3	Q9BPZ7	OTTHUMG00000020683	ENST00000373498.1:c.755A>T	9.37:g.128322005T>A	ENSP00000362597:p.Glu252Val	135	2		159	75	NM_001006618	0	0	33	70	37	A8K1Z5|B1AMA4|B7Z309|Q00426|Q5JSV5|Q5JSV6|Q5JSV9|Q658R0|Q699U1|Q699U2|Q699U3|Q699U4|Q6GVJ0|Q6GVJ1|Q6GVJ2	Missense_Mutation	SNP	ENST00000373498.1	37	CCDS35140.1	.	.	.	.	.	.	.	.	.	.	T	33	5.269302	0.95429	.	.	ENSG00000119487	ENST00000373511;ENST00000350766;ENST00000373503;ENST00000373498;ENST00000265960;ENST00000394063;ENST00000420643;ENST00000394060;ENST00000427078	.	.	.	5.75	5.75	0.90469	.	0.045867	0.85682	D	0.000000	T	0.78591	0.4307	M	0.78049	2.395	0.80722	D	1	D;D;P;D;P	0.67145	0.996;0.989;0.713;0.982;0.85	D;P;P;P;P	0.65010	0.931;0.847;0.617;0.777;0.678	T	0.81484	-0.0912	9	0.72032	D	0.01	-1.4716	16.0664	0.80878	0.0:0.0:0.0:1.0	.	252;252;252;252;252	Q9BPZ7-6;Q9BPZ7-5;Q9BPZ7-3;Q9BPZ7-2;Q9BPZ7	.;.;.;.;SIN1_HUMAN	V	252;252;60;252;252;60;60;252;60	.	ENSP00000265960:E252V	E	-	2	0	MAPKAP1	127361826	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.040000	0.89188	2.201000	0.70794	0.533000	0.62120	GAG	.		0.473	MAPKAP1-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054092.1		
ZBTB34	403341	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	129642194	129642194	+	Silent	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:129642194C>T	ENST00000373452.2	+	1	568	c.504C>T	c.(502-504)tgC>tgT	p.C168C	ZBTB34_ENST00000319119.4_Silent_p.C172C			Q8NCN2	ZBT34_HUMAN	zinc finger and BTB domain containing 34	168					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)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						CTCCATATTGCTCTCAGGGAC	0.582																																					p.C168C		.											.	ZBTB34-69	0			c.C504T						.						55.0	60.0	58.0					9																	129642194		2007	4169	6176	SO:0001819	synonymous_variant	403341	exon2			ATATTGCTCTCAG	DQ227306	CCDS48023.1	9q33.3	2013-01-08			ENSG00000177125	ENSG00000177125		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	31446	protein-coding gene	gene with protein product		611692				16718364	Standard	NM_001099270		Approved	KIAA1993, MGC24652, ZNF918	uc004bqm.4	Q8NCN2	OTTHUMG00000020694	ENST00000373452.2:c.504C>T	9.37:g.129642194C>T		92	0		116	57	NM_001099270	0	0	1	1	0	Q38IA7|Q5VYE9	Silent	SNP	ENST00000373452.2	37	CCDS48023.1																																																																																			.		0.582	ZBTB34-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001099270	
SPTAN1	6709	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	131346591	131346591	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:131346591C>T	ENST00000372731.4	+	17	2334	c.2224C>T	c.(2224-2226)Cgc>Tgc	p.R742C	SPTAN1_ENST00000372739.3_Missense_Mutation_p.R742C|SPTAN1_ENST00000358161.5_Missense_Mutation_p.R742C	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	742					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						CATTCAGGCCCGCCAGTTCCA	0.478																																					p.R742C	NSCLC(120;833 1744 2558 35612 37579)	.											.	SPTAN1-158	0			c.C2224T						.						49.0	53.0	52.0					9																	131346591		2203	4300	6503	SO:0001583	missense	6709	exon17			CAGGCCCGCCAGT	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.2224C>T	9.37:g.131346591C>T	ENSP00000361816:p.Arg742Cys	75	0		87	27	NM_003127	0	0	18	34	16	Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	37	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.038346	0.75617	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.36340	1.26;1.26;1.26	5.52	4.59	0.56863	.	0.000000	0.85682	D	0.000000	T	0.56337	0.1978	M	0.68952	2.095	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.998;0.999;0.998	D;D;P;D;D	0.81914	0.993;0.995;0.864;0.95;0.953	T	0.57329	-0.7830	10	0.56958	D	0.05	.	13.1715	0.59602	0.1587:0.8413:0.0:0.0	.	742;742;742;742;742	A6NG51;B4DTV8;Q13813-3;Q13813-2;Q13813	.;.;.;.;SPTA2_HUMAN	C	742	ENSP00000350882:R742C;ENSP00000361816:R742C;ENSP00000361824:R742C	ENSP00000350882:R742C	R	+	1	0	SPTAN1	130386412	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.462000	0.53042	2.594000	0.87642	0.561000	0.74099	CGC	.		0.478	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127	
WDR34	89891	hgsc.bcm.edu	37	9	131418828	131418828	+	Missense_Mutation	SNP	A	A	C	rs4837292		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:131418828A>C	ENST00000372715.2	-	1	238	c.178T>G	c.(178-180)Tgg>Ggg	p.W60G		NM_052844.3	NP_443076.2	Q96EX3	WDR34_HUMAN	WD repeat domain 34	60				W -> G (in Ref. 2; AAH11874/AAH01614). {ECO:0000305}.		axoneme (GO:0005930)|centriole (GO:0005814)|ciliary basal body (GO:0036064)				central_nervous_system(2)|lung(5)|skin(1)|urinary_tract(1)	9						ACCGTCTCCCAGCGGATGCCC	0.806																																					p.W60G		.											.	WDR34-92	0			c.T178G						.	C	GLY/TRP	1803,9		897,9,0	1.0	1.0	1.0		178	2.1	1.0	9	dbSNP_111	1	3858,0		1929,0,0	no	missense	WDR34	NM_052844.3	184	2826,9,0	CC,CA,AA		0.0,0.4967,0.1587	benign	60/537	131418828	5661,9	906	1929	2835	SO:0001583	missense	89891	exon1			TCTCCCAGCGGAT	BC011874	CCDS6906.2	9q34.11	2013-11-15	2013-02-19	2013-02-19	ENSG00000119333	ENSG00000119333		"""WD repeat domain containing"""	28296	protein-coding gene	gene with protein product		613363				19521662, 21953912, 24183451	Standard	NM_052844		Approved	DIC5, MGC20486, bA216B9.3, FAP133	uc004bvq.1	Q96EX3	OTTHUMG00000020750	ENST00000372715.2:c.178T>G	9.37:g.131418828A>C	ENSP00000361800:p.Trp60Gly	0	0		7	7	NM_052844	0	0	0	0	0	Q5VXV4|Q9BV46	Missense_Mutation	SNP	ENST00000372715.2	37	CCDS6906.2	2170	0.9935897435897436	486	0.9878048780487805	362	1.0	571	0.9982517482517482	751	0.9907651715039578	C	7.343	0.621247	0.14193	0.995033	1.0	ENSG00000119333	ENST00000372715;ENST00000451652;ENST00000419989	T;T;T	0.74106	-0.81;-0.81;-0.81	4.02	2.12	0.27331	.	0.538297	0.18788	N	0.131154	T	0.00012	0.0000	N	0.00538	-1.39	0.58432	P	1.999999999946489E-6	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.34625	-0.9821	9	0.08381	T	0.77	-3.0135	7.4804	0.27402	0.1755:0.4462:0.3784:0.0	rs4837292;rs56752541	45;60	A2A3F8;Q96EX3	.;WDR34_HUMAN	G	60;51;45	ENSP00000361800:W60G;ENSP00000411370:W51G;ENSP00000415421:W45G	ENSP00000361800:W60G	W	-	1	0	WDR34	130458649	1.000000	0.71417	0.994000	0.49952	0.970000	0.65996	0.709000	0.25734	0.259000	0.21709	-0.126000	0.14955	TGG	A|0.006;C|0.994		0.806	WDR34-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054463.1	NM_052844	
PKN3	29941	broad.mit.edu;bcgsc.ca	37	9	131469666	131469666	+	Nonsense_Mutation	SNP	A	A	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:131469666A>T	ENST00000291906.4	+	6	1210	c.817A>T	c.(817-819)Aag>Tag	p.K273*	RN7SL560P_ENST00000577943.1_RNA	NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3	273					epithelial cell migration (GO:0010631)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						GACACCTGTGAAGCCCACCGC	0.592																																					p.K273X		.											.	PKN3-521	0			c.A817T						.						36.0	37.0	36.0					9																	131469666		2203	4300	6503	SO:0001587	stop_gained	29941	exon6			CCTGTGAAGCCCA	AB019692	CCDS6908.1	9q34.13	2008-02-05			ENSG00000160447	ENSG00000160447			17999	protein-coding gene	gene with protein product		610714				10441506	Standard	NM_013355		Approved	PKNbeta	uc004bvw.3	Q6P5Z2	OTTHUMG00000020757	ENST00000291906.4:c.817A>T	9.37:g.131469666A>T	ENSP00000291906:p.Lys273*	39	1		56	24	NM_013355	0	0	2	2	0	Q9UM03	Nonsense_Mutation	SNP	ENST00000291906.4	37	CCDS6908.1	.	.	.	.	.	.	.	.	.	.	A	40	8.098032	0.98651	.	.	ENSG00000160447	ENST00000291906	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.876	0.63653	1.0:0.0:0.0:0.0	.	.	.	.	X	273	.	ENSP00000291906:K273X	K	+	1	0	PKN3	130509487	1.000000	0.71417	0.993000	0.49108	0.582000	0.36321	5.603000	0.67619	2.163000	0.67991	0.459000	0.35465	AAG	.		0.592	PKN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054487.1	NM_013355	
PKN3	29941	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	9	131480648	131480650	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	AGA	AGA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:131480648_131480650delAGA	ENST00000291906.4	+	17	2423_2425	c.2030_2032delAGA	c.(2029-2034)gagaag>gag	p.K679del	PKN3_ENST00000485301.1_3'UTR|ZDHHC12_ENST00000467312.1_5'Flank	NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3	679	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				epithelial cell migration (GO:0010631)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						TTCTTACACGAGAAGAAGATCAT	0.591																																					p.677_678del		.											.	PKN3-521	0			c.2030_2032del						.																																			SO:0001651	inframe_deletion	29941	exon17			TACACGAGAAGAA	AB019692	CCDS6908.1	9q34.13	2008-02-05			ENSG00000160447	ENSG00000160447			17999	protein-coding gene	gene with protein product		610714				10441506	Standard	NM_013355		Approved	PKNbeta	uc004bvw.3	Q6P5Z2	OTTHUMG00000020757	ENST00000291906.4:c.2030_2032delAGA	9.37:g.131480654_131480656delAGA	ENSP00000291906:p.Lys679del	83	0		108	30	NM_013355	0	0	0	0	0	Q9UM03	In_Frame_Del	DEL	ENST00000291906.4	37	CCDS6908.1																																																																																			.		0.591	PKN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054487.1	NM_013355	
PRDM12	59335	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	9	133556768	133556768	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:133556768G>A	ENST00000253008.2	+	5	876	c.816G>A	c.(814-816)gtG>gtA	p.V272V		NM_021619.2	NP_067632.2	Q9H4Q4	PRD12_HUMAN	PR domain containing 12	272					neurogenesis (GO:0022008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)		OV - Ovarian serous cystadenocarcinoma(145;0.000344)		AGCCCTTCGTGTGCCGCTTCT	0.677																																					p.V272V		.											.	PRDM12-90	0			c.G816A						.																																			SO:0001819	synonymous_variant	59335	exon5			CTTCGTGTGCCGC	AY004252	CCDS6934.1	9q33-q34	2013-01-08			ENSG00000130711	ENSG00000130711		"""Zinc fingers, C2H2-type"""	13997	protein-coding gene	gene with protein product	"""PR-domain containing protein 12"", ""PR-domain zinc finger protein 12"""					14523459	Standard	NM_021619		Approved		uc004bzt.1	Q9H4Q4	OTTHUMG00000020808	ENST00000253008.2:c.816G>A	9.37:g.133556768G>A		72	0		150	30	NM_021619	0	0	0	0	0	A3KFK9	Silent	SNP	ENST00000253008.2	37	CCDS6934.1																																																																																			.		0.677	PRDM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054664.1	NM_021619	
PRRC2B	84726	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	134366821	134366821	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:134366821C>T	ENST00000357304.4	+	28	6290	c.6235C>T	c.(6235-6237)Cca>Tca	p.P2079S	PRRC2B_ENST00000465931.1_3'UTR|SNORD62B_ENST00000426867.1_RNA|PRRC2B_ENST00000372249.1_Missense_Mutation_p.P176S|PRRC2B_ENST00000458550.1_Missense_Mutation_p.P1385S|PRRC2B_ENST00000405995.1_Missense_Mutation_p.P1385S	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	2079							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						GCTGACCATGCCACTGCCTCG	0.607																																					p.P2079S		.											.	PRRC2B-24	0			c.C6235T						.						47.0	55.0	53.0					9																	134366821		2100	4223	6323	SO:0001583	missense	84726	exon28			ACCATGCCACTGC	AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"""KIAA0515"", ""HLA-B associated transcript 2-like"", ""HLA-B associated transcript 2-like 1"""	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.6235C>T	9.37:g.134366821C>T	ENSP00000349856:p.Pro2079Ser	134	0		198	84	NM_013318	0	0	2	6	4	O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Missense_Mutation	SNP	ENST00000357304.4	37	CCDS48044.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.5|27.5	4.837312|4.837312	0.91117|0.91117	.|.	.|.	ENSG00000130723|ENSG00000130723	ENST00000320547|ENST00000405995;ENST00000357304;ENST00000458550;ENST00000372249	.|T;T;T	.|0.02763	.|4.17;4.48;4.17	5.45|5.45	5.45|5.45	0.79879|0.79879	.|.	.|0.000000	.|0.41500	.|U	.|0.000862	T|T	0.05868|0.05868	0.0153|0.0153	L|L	0.41824|0.41824	1.3|1.3	0.80722|0.80722	D|D	1|1	.|P;P	.|0.52463	.|0.48;0.953	.|B;P	.|0.47744	.|0.12;0.556	T|T	0.22208|0.22208	-1.0223|-1.0223	5|10	.|0.87932	.|D	.|0	-17.6988|-17.6988	16.4418|16.4418	0.83903|0.83903	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1385;2079	.|Q5JSZ5-5;Q5JSZ5	.|.;PRC2B_HUMAN	V|S	85|1385;2079;1385;176	.|ENSP00000384606:P1385S;ENSP00000349856:P2079S;ENSP00000398853:P1385S	.|ENSP00000349856:P2079S	A|P	+|+	2|1	0|0	PRRC2B|PRRC2B	133356642|133356642	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.930000|0.930000	0.56654|0.56654	2.862000|2.862000	0.48388|0.48388	2.552000|2.552000	0.86080|0.86080	0.555000|0.555000	0.69702|0.69702	GCC|CCA	.		0.607	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
GBGT1	26301	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	136037733	136037733	+	Missense_Mutation	SNP	G	G	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:136037733G>T	ENST00000372040.3	-	2	378	c.67C>A	c.(67-69)Ctg>Atg	p.L23M	GBGT1_ENST00000372038.3_Missense_Mutation_p.L23M|GBGT1_ENST00000540636.1_Missense_Mutation_p.L23M|GBGT1_ENST00000372043.3_Missense_Mutation_p.L23M|RALGDS_ENST00000542690.1_Missense_Mutation_p.L23M|GBGT1_ENST00000472281.1_5'UTR|GBGT1_ENST00000372036.3_Missense_Mutation_p.L23M	NM_001282629.1	NP_001269558.1	Q8N5D6	GBGT1_HUMAN	globoside alpha-1,3-N-acetylgalactosaminyltransferase 1	23					glycolipid biosynthetic process (GO:0009247)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	globoside alpha-N-acetylgalactosaminyltransferase activity (GO:0047277)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(4)|lung(2)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;3.49e-06)|Epithelial(140;2.59e-05)		ACTCACCACAGGACACTGAGG	0.647																																					p.L23M		.											.	GBGT1-90	0			c.C67A						.						35.0	33.0	33.0					9																	136037733		2202	4300	6502	SO:0001583	missense	26301	exon2			ACCACAGGACACT	AY358175	CCDS6960.1, CCDS65175.1, CCDS65176.1	9q34.13-q34.3	2014-07-18			ENSG00000148288	ENSG00000148288		"""Glycosyltransferase family 6 domain containing"""	20460	protein-coding gene	gene with protein product	"""Forssman glycolipid synthetase (FS)"", ""Forssman synthetase"""	606074				10506200, 8855242	Standard	NM_021996		Approved	UDP-GalNAc, A3GALNT, MGC44848, FS		Q8N5D6	OTTHUMG00000020853	ENST00000372040.3:c.67C>A	9.37:g.136037733G>T	ENSP00000361110:p.Leu23Met	81	0		121	51	NM_021996	0	0	0	0	0	A8K633|B2RA95|B7Z8S5|Q45F07|Q5T7U9|Q5T7V1|Q8N2K4|Q9UKI5	Missense_Mutation	SNP	ENST00000372040.3	37	CCDS6960.1	.	.	.	.	.	.	.	.	.	.	G	14.79	2.640177	0.47153	.	.	ENSG00000160271;ENSG00000148288;ENSG00000148288;ENSG00000148288;ENSG00000148288;ENSG00000148288	ENST00000542690;ENST00000372043;ENST00000372040;ENST00000540636;ENST00000372038;ENST00000372036	T;T;T;T;T;T	0.55930	0.49;5.02;5.02;4.58;0.92;0.96	2.86	2.86	0.33363	.	0.520568	0.16928	N	0.193810	T	0.66944	0.2841	M	0.65975	2.015	0.30687	N	0.751769	D;D;D;D	0.76494	0.997;0.999;0.999;0.96	D;D;D;P	0.87578	0.998;0.998;0.998;0.742	T	0.65565	-0.6137	10	0.87932	D	0	.	9.4065	0.38464	0.0:0.0:1.0:0.0	.	23;23;23;23	B7Z8S5;F5H6M6;Q8N5D6-2;Q8N5D6	.;.;.;GBGT1_HUMAN	M	23	ENSP00000437518:L23M;ENSP00000361113:L23M;ENSP00000361110:L23M;ENSP00000437663:L23M;ENSP00000361108:L23M;ENSP00000361106:L23M	ENSP00000361106:L23M	L	-	1	2	GBGT1;RALGDS	135027554	0.347000	0.24853	0.873000	0.34254	0.520000	0.34377	0.732000	0.26072	1.892000	0.54788	0.563000	0.77884	CTG	.		0.647	GBGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054815.1	NM_021996	
DBH	1621	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	136501745	136501745	+	Silent	SNP	C	C	T	rs570356950		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:136501745C>T	ENST00000393056.2	+	1	264	c.252C>T	c.(250-252)ggC>ggT	p.G84G		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	84	DOMON. {ECO:0000255|PROSITE- ProRule:PRU00246}.				behavioral response to ethanol (GO:0048149)|blood vessel remodeling (GO:0001974)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine production (GO:0001816)|dopamine catabolic process (GO:0042420)|fear response (GO:0042596)|glucose homeostasis (GO:0042593)|homoiothermy (GO:0042309)|leukocyte mediated immunity (GO:0002443)|leukocyte migration (GO:0050900)|locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|memory (GO:0007613)|norepinephrine biosynthetic process (GO:0042421)|positive regulation of vasoconstriction (GO:0045907)|regulation of cell proliferation (GO:0042127)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|response to amphetamine (GO:0001975)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	catalytic activity (GO:0003824)|copper ion binding (GO:0005507)|dopamine beta-monooxygenase activity (GO:0004500)|L-ascorbic acid binding (GO:0031418)	p.G84G(1)		central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Disulfiram(DB00822)|Dopamine(DB00988)|Propylthiouracil(DB00550)|Vitamin C(DB00126)	TCAAGGCTGGCGTCCTGTTTG	0.612													C|||	1	0.000199681	0.0	0.0	5008	,	,		17929	0.0		0.001	False		,,,				2504	0.0				p.G84G		.											.	DBH-516	1	Substitution - coding silent(1)	large_intestine(1)	c.C252T						.						80.0	59.0	66.0					9																	136501745		2203	4300	6503	SO:0001819	synonymous_variant	1621	exon1			GGCTGGCGTCCTG	X13256	CCDS6977.2	9q34	2013-06-03			ENSG00000123454	ENSG00000123454	1.14.17.1		2689	protein-coding gene	gene with protein product		609312					Standard	NM_000787		Approved	DBM	uc004cel.3	P09172	OTTHUMG00000020878	ENST00000393056.2:c.252C>T	9.37:g.136501745C>T		51	0		69	26	NM_000787	0	0	0	0	0	Q5T381|Q96AG2	Silent	SNP	ENST00000393056.2	37	CCDS6977.2																																																																																			.		0.612	DBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054929.2	NM_000787	
CCDC183	84960	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	139700573	139700573	+	Missense_Mutation	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:139700573A>G	ENST00000338005.6	+	10	1027	c.992A>G	c.(991-993)aAc>aGc	p.N331S	RP11-216L13.19_ENST00000415992.1_RNA|KIAA1984-AS1_ENST00000414656.1_RNA|KIAA1984_ENST00000371682.3_3'UTR|RABL6_ENST00000357466.2_5'Flank|RABL6_ENST00000311502.7_5'Flank|RP11-216L13.18_ENST00000471502.1_RNA|RABL6_ENST00000371663.4_5'Flank|RABL6_ENST00000371671.4_5'Flank	NM_001039374.4	NP_001034463.4	Q5T5S1	CC183_HUMAN		331										biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		ACGGAGGAGAACCTGGAGCTG	0.652																																					p.N331S		.											.	KIAA1984-91	0			c.A992G						.						35.0	45.0	42.0					9																	139700573		2047	4183	6230	SO:0001583	missense	84960	exon10			AGGAGAACCTGGA																												ENST00000338005.6:c.992A>G	9.37:g.139700573A>G	ENSP00000338013:p.Asn331Ser	70	1		90	38	NM_001039374	0	0	0	1	1	B2RP89|C9JD38|Q6P2D9|Q8NAI4|Q8TF18	Missense_Mutation	SNP	ENST00000338005.6	37	CCDS43906.1	.	.	.	.	.	.	.	.	.	.	A	16.41	3.116461	0.56505	.	.	ENSG00000213213	ENST00000423962;ENST00000338005	T	0.13307	2.6	5.07	5.07	0.68467	.	0.365941	0.20166	U	0.097859	T	0.12518	0.0304	L	0.59436	1.845	0.80722	D	1	P	0.40731	0.728	B	0.38378	0.272	T	0.03483	-1.1032	10	0.02654	T	1	-33.0786	11.2344	0.48931	1.0:0.0:0.0:0.0	.	331	Q5T5S1	K1984_HUMAN	S	331	ENSP00000338013:N331S	ENSP00000338013:N331S	N	+	2	0	KIAA1984	138820394	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.594000	0.36697	1.897000	0.54924	0.459000	0.35465	AAC	.		0.652	KIAA1984-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354899.1		
SSNA1	8636	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	140084326	140084326	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:140084326C>T	ENST00000322310.5	+	3	400	c.320C>T	c.(319-321)aCa>aTa	p.T107I	SSNA1_ENST00000459860.1_3'UTR|TPRN_ENST00000541945.1_5'Flank|ANAPC2_ENST00000323927.2_5'Flank	NM_003731.2	NP_003722.2	O43805	SSNA1_HUMAN	Sjogren syndrome nuclear autoantigen 1	107					ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|G2/M transition of mitotic cell cycle (GO:0000086)|intraciliary transport (GO:0042073)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|nucleus (GO:0005634)				breast(2)|kidney(1)|large_intestine(1)|lung(2)	6	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.43e-05)|Epithelial(140;0.00087)		ACCAAGGCTACAGCCCCAGAC	0.602																																					p.T107I		.											.	SSNA1-153	0			c.C320T						.						56.0	58.0	57.0					9																	140084326		2202	4300	6502	SO:0001583	missense	8636	exon3			AGGCTACAGCCCC	Z96932	CCDS7034.1	9q34.3	2008-02-05	2007-10-04		ENSG00000176101	ENSG00000176101			11321	protein-coding gene	gene with protein product		610882	"""Sjogren's syndrome nuclear autoantigen 1"""			9430706	Standard	NM_003731		Approved	NA14, N14	uc004cls.2	O43805	OTTHUMG00000020982	ENST00000322310.5:c.320C>T	9.37:g.140084326C>T	ENSP00000313752:p.Thr107Ile	100	0		113	47	NM_003731	0	0	94	160	66	Q5VSG0|Q6FG70|Q9BVW8	Missense_Mutation	SNP	ENST00000322310.5	37	CCDS7034.1	.	.	.	.	.	.	.	.	.	.	C	13.22	2.172482	0.38315	.	.	ENSG00000176101	ENST00000322310	.	.	.	3.41	3.41	0.39046	.	0.250471	0.32287	N	0.006305	T	0.46600	0.1401	L	0.43923	1.385	0.34036	D	0.654428	B	0.15141	0.012	B	0.12156	0.007	T	0.55903	-0.8067	9	0.36615	T	0.2	-2.7478	10.1901	0.43021	0.0:1.0:0.0:0.0	.	107	O43805	SSNA1_HUMAN	I	107	.	ENSP00000313752:T107I	T	+	2	0	SSNA1	139204147	0.572000	0.26668	0.796000	0.32109	0.825000	0.46686	2.389000	0.44407	1.746000	0.51805	0.313000	0.20887	ACA	.		0.602	SSNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055311.1	NM_003731	
C9orf173	441476	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	140145761	140145761	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:140145761C>T	ENST00000412566.1	+	1	32	c.23C>T	c.(22-24)gCa>gTa	p.A8V	C9orf173_ENST00000388931.3_Missense_Mutation_p.A8V			Q8N7X2	CI173_HUMAN	chromosome 9 open reading frame 173	8										kidney(1)|large_intestine(1)|lung(5)|pancreas(1)	8						GACCAGAAGGCAGTGAAATTC	0.547																																					p.A8V		.											.	C9orf173-46	0			c.C23T						.						122.0	135.0	131.0					9																	140145761		1957	4142	6099	SO:0001583	missense	441476	exon1			AGAAGGCAGTGAA		CCDS48065.1, CCDS59156.1, CCDS75940.1, CCDS75941.1	9q34.3	2009-10-02			ENSG00000197768	ENSG00000197768			37285	protein-coding gene	gene with protein product							Standard	NM_001256699		Approved	FLJ40246	uc004cmk.2	Q8N7X2		ENST00000412566.1:c.23C>T	9.37:g.140145761C>T	ENSP00000391218:p.Ala8Val	165	1		195	87	NM_001256701	0	0	0	0	0	A2RU24|B7ZM72|B7ZM76|Q8NEA3	Missense_Mutation	SNP	ENST00000412566.1	37	CCDS48065.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.635225	0.87760	.	.	ENSG00000197768	ENST00000388931;ENST00000412566	T;T	0.59502	0.26;0.37	4.41	4.41	0.53225	.	0.000000	0.33515	N	0.004835	T	0.68632	0.3022	L	0.48642	1.525	0.34944	D	0.750622	D;D;D;D	0.89917	0.964;1.0;1.0;0.999	P;D;D;D	0.69824	0.615;0.966;0.966;0.917	T	0.78326	-0.2247	10	0.87932	D	0	-10.7761	14.5365	0.67963	0.0:1.0:0.0:0.0	.	8;8;8;8	B7ZM74;Q8N7X2-3;Q8N7X2-2;Q8N7X2-4	.;.;.;.	V	8	ENSP00000373583:A8V;ENSP00000391218:A8V	ENSP00000373583:A8V	A	+	2	0	C9orf173	139265582	0.983000	0.35010	0.981000	0.43875	0.852000	0.48524	0.878000	0.28126	2.286000	0.76751	0.555000	0.69702	GCA	.		0.547	C9orf173-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001004353	
EHMT1	79813	broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	140671199	140671199	+	Missense_Mutation	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:140671199A>G	ENST00000460843.1	+	12	1948	c.1921A>G	c.(1921-1923)Acg>Gcg	p.T641A	EHMT1_ENST00000462484.1_Missense_Mutation_p.T641A|EHMT1_ENST00000334856.6_Missense_Mutation_p.T610A|EHMT1_ENST00000371394.2_3'UTR	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	641					chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		CAAAGAGGTGACGATAGCTAA	0.602																																					p.T641A		.											.	EHMT1-154	0			c.A1921G						.						140.0	117.0	125.0					9																	140671199		2203	4300	6503	SO:0001583	missense	79813	exon12			GAGGTGACGATAG	AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	24650	protein-coding gene	gene with protein product		607001	"""euchromatic histone methyltransferase 1"""			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.1921A>G	9.37:g.140671199A>G	ENSP00000417980:p.Thr641Ala	163	1		246	110	NM_001145527	0	0	15	35	20	B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Missense_Mutation	SNP	ENST00000460843.1	37	CCDS7050.2	.	.	.	.	.	.	.	.	.	.	A	18.53	3.644634	0.67358	.	.	ENSG00000181090	ENST00000334856;ENST00000371400;ENST00000462484;ENST00000460843	T;T;T	0.71698	1.43;0.65;-0.59	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.71187	0.3310	M	0.74258	2.255	0.54753	D	0.999986	B;P;B	0.36712	0.004;0.566;0.423	B;B;B	0.35859	0.005;0.212;0.079	T	0.75141	-0.3422	10	0.59425	D	0.04	.	14.9601	0.71151	1.0:0.0:0.0:0.0	.	641;610;641	Q9H9B1;Q9H9B1-2;Q9H9B1-4	EHMT1_HUMAN;.;.	A	610;610;641;641	ENSP00000334476:T610A;ENSP00000417328:T641A;ENSP00000417980:T641A	ENSP00000334476:T610A	T	+	1	0	EHMT1	139791020	1.000000	0.71417	0.997000	0.53966	0.829000	0.46940	9.087000	0.94110	2.004000	0.58718	0.459000	0.35465	ACG	.		0.602	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055371.2	NM_024757	
CACNA1B	774	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	140850238	140850238	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:140850238G>A	ENST00000371372.1	+	8	1304	c.1159G>A	c.(1159-1161)Ggg>Agg	p.G387R	CACNA1B_ENST00000371355.4_Missense_Mutation_p.G387R|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371357.1_Missense_Mutation_p.G387R|CACNA1B_ENST00000277551.2_Missense_Mutation_p.G387R|CACNA1B_ENST00000371363.1_Missense_Mutation_p.G387R	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	387	Binding to the beta subunit. {ECO:0000250}.				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)	AGAGCTCAACGGGTACCTGGA	0.632																																					p.G387R		.											.	CACNA1B-138	0			c.G1159A						.						21.0	24.0	23.0					9																	140850238		1982	4173	6155	SO:0001583	missense	774	exon8			CTCAACGGGTACC	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.1159G>A	9.37:g.140850238G>A	ENSP00000360423:p.Gly387Arg	103	1		160	68	NM_001243812	0	0	0	0	0	B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.783253	0.90282	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D	0.94417	-3.42;-3.42;-3.42;-3.42;-3.42	5.65	4.75	0.60458	.	0.054403	0.85682	N	0.000000	D	0.94935	0.8362	M	0.89715	3.055	0.80722	D	1	D	0.53885	0.963	B	0.41174	0.349	D	0.94988	0.8132	10	0.72032	D	0.01	.	14.2146	0.65786	0.0725:0.0:0.9275:0.0	.	387	B1AQK6	.	R	387	ENSP00000360423:G387R;ENSP00000277551:G387R;ENSP00000360414:G387R;ENSP00000360408:G387R;ENSP00000360406:G387R	ENSP00000277551:G387R	G	+	1	0	CACNA1B	139970059	1.000000	0.71417	0.923000	0.36655	0.918000	0.54935	9.559000	0.98135	1.411000	0.46957	-0.350000	0.07774	GGG	.		0.632	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718	
PPP2R3B	28227	broad.mit.edu;bcgsc.ca	37	X	299353	299353	+	Silent	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chrX:299353C>T	ENST00000390665.3	-	12	1581	c.1563G>A	c.(1561-1563)gaG>gaA	p.E521E		NM_013239.4	NP_037371.2	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'', beta	521					cell cycle arrest (GO:0007050)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|phosphoprotein phosphatase activity (GO:0004721)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(5)|lung(5)|skin(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				cctcccaGGGCTCTCCCGCAG	0.697																																					p.E521E		.											.	PPP2R3B-136	0			c.G1563A						.						71.0	62.0	65.0					X																	299353		2178	4278	6456	SO:0001819	synonymous_variant	28227	exon12			CCAGGGCTCTCCC	AF215840	CCDS14104.1	Xp22.3 and Yp11.3	2013-01-10	2010-06-18		ENSG00000167393	ENSG00000167393		"""Pseudoautosomal regions / PAR1"", ""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""EF-hand domain containing"""	13417	protein-coding gene	gene with protein product		300339	"""protein phosphatase 2 (formerly 2A), regulatory subunit B'', beta"""	PPP2R3L		11173861	Standard	NM_013239		Approved	PPP2R3LY, PR48	uc004cpg.3	Q9Y5P8	OTTHUMG00000021052	ENST00000390665.3:c.1563G>A	X.37:g.299353C>T		43	1		76	55	NM_013239	0	0	0	0	0	Q6P4G9|Q7RTT1|Q96H01	Silent	SNP	ENST00000390665.3	37	CCDS14104.1																																																																																			.		0.697	PPP2R3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055577.2	NM_013239	
FRMPD4	9758	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	12728521	12728521	+	Missense_Mutation	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chrX:12728521A>G	ENST00000380682.1	+	14	1980	c.1474A>G	c.(1474-1476)Atc>Gtc	p.I492V		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	492	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TGTGTAGCCTATCACGCTTCT	0.438																																					p.I492V		.											.	FRMPD4-263	0			c.A1474G						.						207.0	194.0	199.0					X																	12728521		2203	4300	6503	SO:0001583	missense	9758	exon14			TAGCCTATCACGC	AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"""PDZ domain containing 10"""	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.1474A>G	X.37:g.12728521A>G	ENSP00000370057:p.Ile492Val	31	0		53	46	NM_014728	0	0	0	0	0	A8K0X9|O15032	Missense_Mutation	SNP	ENST00000380682.1	37	CCDS35201.1	.	.	.	.	.	.	.	.	.	.	A	12.91	2.079408	0.36662	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	T	0.10960	2.82	5.47	4.31	0.51392	FERM domain (1);	0.115412	0.56097	N	0.000032	T	0.11196	0.0273	L	0.34521	1.04	0.32136	N	0.586102	P;B	0.37688	0.605;0.199	B;B	0.42692	0.395;0.07	T	0.08743	-1.0707	10	0.33940	T	0.23	.	10.197	0.43060	0.9214:0.0:0.0786:0.0	.	484;492	B7ZLE1;Q14CM0	.;FRPD4_HUMAN	V	492;483;481	ENSP00000370057:I492V	ENSP00000304583:I481V	I	+	1	0	FRMPD4	12638442	1.000000	0.71417	0.984000	0.44739	0.721000	0.41392	5.768000	0.68858	0.730000	0.32425	0.486000	0.48141	ATC	.		0.438	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712	
DCAF8L2	347442	broad.mit.edu;bcgsc.ca;mdanderson.org	37	X	27765447	27765447	+	Silent	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chrX:27765447A>G	ENST00000451261.2	+	5	834	c.435A>G	c.(433-435)gaA>gaG	p.E145E		NM_001136533.1	NP_001130005.1	P0C7V8	DC8L2_HUMAN	DDB1 and CUL4 associated factor 8-like 2	145	Glu-rich.			Missing (in Ref. 1; AAI57860). {ECO:0000305}.						central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						aggaggaggaagaagaACAGC	0.592													A|||	27	0.00715232	0.003	0.0014	3775	,	,		4409	0.0069		0.0	False		,,,				2504	0.0153				p.E145E		.											.	DCAF8L2-42	0			c.A435G						.						18.0	17.0	17.0					X																	27765447		692	1591	2283	SO:0001819	synonymous_variant	347442	exon1			GGAGGAAGAAGAA		CCDS59162.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17		ENSG00000189186		"""WD repeat domain containing"""	31811	protein-coding gene	gene with protein product			"""WD repeat domain 42C"""	WDR42C			Standard	NM_001136533		Approved		uc011mjy.2	P0C7V8		ENST00000451261.2:c.435A>G	X.37:g.27765447A>G		26	0		30	27	NM_001136533	0	0	0	0	0	B2RXH9|J3KT06	Silent	SNP	ENST00000451261.2	37	CCDS59162.1																																																																																			.		0.592	DCAF8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056143.4	XM_293354	
CASK	8573	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	41437770	41437770	+	Silent	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chrX:41437770C>T	ENST00000378163.1	-	15	1800	c.1326G>A	c.(1324-1326)caG>caA	p.Q442Q	CASK_ENST00000378166.4_Silent_p.Q442Q|CASK_ENST00000442742.2_Silent_p.Q442Q|CASK_ENST00000472704.1_5'Flank|CASK_ENST00000378158.1_Silent_p.Q442Q|CASK_ENST00000361962.4_Silent_p.Q442Q|CASK_ENST00000318588.9_Silent_p.Q442Q|CASK_ENST00000421587.2_Silent_p.Q436Q|CASK_ENST00000378154.1_Silent_p.Q442Q			O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein kinase (MAGUK family)	442	L27 2. {ECO:0000255|PROSITE- ProRule:PRU00365}.				calcium ion import (GO:0070509)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of wound healing (GO:0061045)|nucleotide phosphorylation (GO:0046939)|positive regulation of calcium ion import (GO:0090280)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	actin cytoskeleton (GO:0015629)|basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						CGTCGTGAGTCTGAAGTAAGG	0.363																																					p.Q442Q	NSCLC(42;104 1086 3090 27189 35040)	.											.	CASK-616	0			c.G1326A						.						91.0	74.0	79.0					X																	41437770		2203	4300	6503	SO:0001819	synonymous_variant	8573	exon15			GTGAGTCTGAAGT	AF035582	CCDS14257.1, CCDS48094.1, CCDS48095.1	Xp11.4	2010-02-09			ENSG00000147044	ENSG00000147044			1497	protein-coding gene	gene with protein product		300172	"""trinucleotide repeat containing 8"""	TNRC8		9722958	Standard	NM_003688		Approved	LIN2, CAGH39, FGS4	uc004dfl.4	O14936	OTTHUMG00000021378	ENST00000378163.1:c.1326G>A	X.37:g.41437770C>T		27	0		37	30	NM_001126054	0	0	0	0	0	A6NES1|B7ZKY0|O43215|Q17RI4|Q59HA0|Q5VT16|Q5VT17|Q5VT18|Q5VT19|Q66T42|Q9BYH6|Q9NYB2|Q9NYB3	Silent	SNP	ENST00000378163.1	37																																																																																				.		0.363	CASK-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000056285.1	NM_003688	
NUDT10	170685	broad.mit.edu	37	X	51076024	51076024	+	Silent	SNP	G	G	A	rs143435240		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chrX:51076024G>A	ENST00000376006.3	+	2	427	c.207G>A	c.(205-207)gaG>gaA	p.E69E	NUDT10_ENST00000356450.2_Silent_p.E69E	NM_153183.2	NP_694853.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 10	234					ADP catabolic process (GO:0046032)|IDP catabolic process (GO:0046709)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrial matrix (GO:0005759)	adenosine-diphosphatase activity (GO:0043262)|ADP-ribose diphosphatase activity (GO:0047631)|ADP-sugar diphosphatase activity (GO:0019144)	p.E69E(8)		cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16	Ovarian(276;0.236)					TGTACGAAGAGGCGGGAGTCA	0.657																																					p.E69E	NSCLC(90;1817 2035 37909 38249)	.											.	NUDT10-90	8	Substitution - coding silent(8)	endometrium(5)|cervix(1)|prostate(1)|lung(1)	c.G207A						.						52.0	62.0	59.0					X																	51076024		2203	4300	6503	SO:0001819	synonymous_variant	170685	exon2			CGAAGAGGCGGGA	AF469196	CCDS35278.1	Xp11.22-p11.1	2014-05-20			ENSG00000122824	ENSG00000122824		"""Nudix motif containing"""	17621	protein-coding gene	gene with protein product		300527				12105228	Standard	NM_153183		Approved	DIPP3a, hDIPP3alpha	uc004dph.3	Q8NFP7	OTTHUMG00000021530	ENST00000376006.3:c.207G>A	X.37:g.51076024G>A		123	2		240	5	NM_153183	0	0	0	3	3	Q8NBN1|Q8NCB9|Q8NG25	Silent	SNP	ENST00000376006.3	37	CCDS35278.1																																																																																			.		0.657	NUDT10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056578.1	NM_153183	
SMC1A	8243	broad.mit.edu	37	X	53432788	53432788	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chrX:53432788G>A	ENST00000322213.4	-	10	1773	c.1646C>T	c.(1645-1647)tCg>tTg	p.S549L	SMC1A_ENST00000375340.6_Missense_Mutation_p.S315L	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	549	Flexible hinge.				DNA repair (GO:0006281)|gene expression (GO:0010467)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid cohesion (GO:0007064)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA endoreduplication (GO:0032876)|response to radiation (GO:0009314)|RNA splicing (GO:0008380)|signal transduction in response to DNA damage (GO:0042770)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin core heterodimer (GO:0008280)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|meiotic cohesin complex (GO:0030893)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						TGTCTTCTCCGAGTCCACAAT	0.517																																					p.S549L		.											.	SMC1A-232	0			c.C1646T						.						108.0	86.0	93.0					X																	53432788		2203	4300	6503	SO:0001583	missense	8243	exon10			TTCTCCGAGTCCA	S78271	CCDS14352.1, CCDS75985.1	Xp11.22-p11.21	2014-09-17	2006-07-06	2006-07-06	ENSG00000072501	ENSG00000072501		"""Structural maintenance of chromosomes proteins"""	11111	protein-coding gene	gene with protein product		300040	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 1 (yeast)"""	SMC1L1		7757074	Standard	NM_006306		Approved	DXS423E, KIAA0178, SB1.8, Smcb	uc004dsg.3	Q14683	OTTHUMG00000021614	ENST00000322213.4:c.1646C>T	X.37:g.53432788G>A	ENSP00000323421:p.Ser549Leu	121	0		145	5	NM_006306	0	0	14	14	0	O14995|Q16351|Q2M228	Missense_Mutation	SNP	ENST00000322213.4	37	CCDS14352.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.748456	0.89753	.	.	ENSG00000072501	ENST00000322213;ENST00000375340	D;D	0.86865	-2.18;-2.18	5.15	5.15	0.70609	SMCs flexible hinge (3);RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.93785	0.8013	M	0.85462	2.755	0.80722	D	1	D;D;D	0.89917	0.981;1.0;0.999	B;D;P	0.69479	0.41;0.964;0.808	D	0.94669	0.7855	10	0.87932	D	0	.	16.9916	0.86355	0.0:0.0:1.0:0.0	.	315;527;549	B7Z709;Q6MZR8;Q14683	.;.;SMC1A_HUMAN	L	549;315	ENSP00000323421:S549L;ENSP00000364489:S315L	ENSP00000323421:S549L	S	-	2	0	SMC1A	53449513	1.000000	0.71417	0.992000	0.48379	0.984000	0.73092	9.705000	0.98719	2.476000	0.83614	0.600000	0.82982	TCG	.		0.517	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056756.2	NM_006306	
OTUD6A	139562	bcgsc.ca	37	X	69282461	69282461	+	Frame_Shift_Del	DEL	A	A	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chrX:69282461delA	ENST00000338352.2	+	1	121	c.87delA	c.(85-87)ttafs	p.L29fs		NM_207320.1	NP_997203.1	Q7L8S5	OTU6A_HUMAN	OTU deubiquitinase 6A	29					protein K11-linked deubiquitination (GO:0035871)|protein K27-linked deubiquitination (GO:1990167)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)		ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						TCCGGAGCTTAAAAAACTCGG	0.582																																					p.L29fs		.											.	OTUD6A-541	0			c.87delA						.						25.0	24.0	25.0					X																	69282461		2203	4299	6502	SO:0001589	frameshift_variant	139562	exon1			GAGCTTAAAAAAC	AK098697	CCDS14395.1	Xq13.1	2014-02-24	2014-02-24			ENSG00000189401		"""OTU domain containing"""	32312	protein-coding gene	gene with protein product		300714	"""OTU domain containing 6A"""			23827681	Standard	NM_207320		Approved	FLJ25831, HSHIN6, DUBA2	uc004dxu.1	Q7L8S5		ENST00000338352.2:c.87delA	X.37:g.69282461delA	ENSP00000339389:p.Leu29fs	178	4		266	210	NM_207320	0	0	0	0	0	B2RPB7	Frame_Shift_Del	DEL	ENST00000338352.2	37	CCDS14395.1																																																																																			.		0.582	OTUD6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358763.1	NM_207320	
ITM2A	9452	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	78616967	78616967	+	Missense_Mutation	SNP	A	A	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chrX:78616967A>T	ENST00000373298.2	-	5	705	c.562T>A	c.(562-564)Tat>Aat	p.Y188N	ITM2A_ENST00000469541.1_5'UTR|ITM2A_ENST00000434584.2_Missense_Mutation_p.Y144N	NM_004867.4	NP_004858.1	O43736	ITM2A_HUMAN	integral membrane protein 2A	188	BRICHOS. {ECO:0000255|PROSITE- ProRule:PRU00255}.					integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	18						TGAGGCAGATATCTGCCACTC	0.343																																					p.Y188N		.											.	ITM2A-131	0			c.T562A						.						54.0	48.0	50.0					X																	78616967		2201	4297	6498	SO:0001583	missense	9452	exon5			GCAGATATCTGCC	BC034485	CCDS14444.1, CCDS55455.1	Xq13.3-q21.2	2012-10-10			ENSG00000078596	ENSG00000078596		"""BRICHOS domain containing"""	6173	protein-coding gene	gene with protein product	"""BRICHOS domain containing 2A"""	300222				9892734, 8702637	Standard	NM_004867		Approved	BRICD2A, E25A	uc004edh.3	O43736	OTTHUMG00000021900	ENST00000373298.2:c.562T>A	X.37:g.78616967A>T	ENSP00000362395:p.Tyr188Asn	173	1		163	137	NM_004867	0	0	0	0	0	B2R7X5|B4E062|Q6IBC9	Missense_Mutation	SNP	ENST00000373298.2	37	CCDS14444.1	.	.	.	.	.	.	.	.	.	.	A	11.19	1.565699	0.27915	.	.	ENSG00000078596	ENST00000373298;ENST00000434584	T;T	0.79141	-1.24;-1.24	4.5	3.34	0.38264	BRICHOS (2);	0.149603	0.46442	D	0.000292	T	0.82111	0.4966	M	0.77616	2.38	0.50632	D	0.999885	P;P	0.50369	0.933;0.934	P;P	0.53102	0.718;0.559	T	0.81371	-0.0963	10	0.87932	D	0	-5.215	8.2865	0.31932	0.9017:0.0:0.0983:0.0	.	144;188	B4E062;O43736	.;ITM2A_HUMAN	N	188;144	ENSP00000362395:Y188N;ENSP00000415533:Y144N	ENSP00000362395:Y188N	Y	-	1	0	ITM2A	78503623	1.000000	0.71417	0.103000	0.21229	0.019000	0.09904	4.194000	0.58393	0.534000	0.28695	0.417000	0.27973	TAT	.		0.343	ITM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057329.1	NM_004867	
ZNF711	7552	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	84519342	84519342	+	Silent	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chrX:84519342T>C	ENST00000373165.3	+	5	990	c.684T>C	c.(682-684)gaT>gaC	p.D228D	ZNF711_ENST00000360700.4_Silent_p.D228D|ZNF711_ENST00000276123.3_Silent_p.D228D|ZNF711_ENST00000395402.1_Silent_p.D206D|ZNF711_ENST00000542798.1_Silent_p.D24D	NM_021998.4	NP_068838.3	Q9Y462	ZN711_HUMAN	zinc finger protein 711	228					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						TTGGCAGTGATGGTTCACAAG	0.313																																					p.D228D		.											.	ZNF711-134	0			c.T684C						.						82.0	73.0	76.0					X																	84519342		2201	4297	6498	SO:0001819	synonymous_variant	7552	exon5			CAGTGATGGTTCA	BC006349	CCDS35344.1	Xq21.1	2014-02-19	2006-06-29	2006-06-29	ENSG00000147180	ENSG00000147180		"""Zinc fingers, C2H2-type"""	13128	protein-coding gene	gene with protein product		314990	"""zinc finger protein 6 (CMPX1)"", ""zinc finger protein 6"""	ZNF6		19377476	Standard	XM_005262186		Approved	CMPX1, ZNF4, ZNF5, dJ75N13.1, Zfp711, MRX97	uc004eeo.3	Q9Y462	OTTHUMG00000021933	ENST00000373165.3:c.684T>C	X.37:g.84519342T>C		120	0		143	125	NM_021998	0	0	2	2	0	B4DSV4|Q6NX42|Q9Y4J6	Silent	SNP	ENST00000373165.3	37	CCDS35344.1																																																																																			.		0.313	ZNF711-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057388.2	NM_021998	
CPXCR1	53336	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	88008936	88008936	+	Missense_Mutation	SNP	A	A	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chrX:88008936A>G	ENST00000276127.4	+	3	780	c.521A>G	c.(520-522)aAg>aGg	p.K174R	CPXCR1_ENST00000373111.1_Missense_Mutation_p.K174R	NM_033048.5	NP_149037	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	174							metal ion binding (GO:0046872)			NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						ATGTGGGTAAAGCGAAAATAT	0.418																																					p.K174R		.											.	CPXCR1-133	0			c.A521G						.						66.0	52.0	57.0					X																	88008936		2203	4300	6503	SO:0001583	missense	53336	exon3			GGGTAAAGCGAAA	AL031116	CCDS14458.1	Xq21.3	2009-08-06			ENSG00000147183	ENSG00000147183			2332	protein-coding gene	gene with protein product	"""cancer/testis antigen 77"""					11499681	Standard	NM_033048		Approved	CT77	uc004efc.4	Q8N123	OTTHUMG00000021950	ENST00000276127.4:c.521A>G	X.37:g.88008936A>G	ENSP00000276127:p.Lys174Arg	65	0		93	78	NM_001184771	0	0	0	0	0	B2R9F9|D3DTE7|Q96RS3	Missense_Mutation	SNP	ENST00000276127.4	37	CCDS14458.1	.	.	.	.	.	.	.	.	.	.	A	11.86	1.763326	0.31228	.	.	ENSG00000147183	ENST00000276127;ENST00000373111	T;T	0.46063	0.88;0.88	3.06	3.06	0.35304	.	0.000000	0.37623	N	0.002019	T	0.45736	0.1357	L	0.29908	0.895	0.09310	N	1	D	0.89917	1.0	D	0.83275	0.996	T	0.13150	-1.0520	9	.	.	.	-19.613	6.9894	0.24748	1.0:0.0:0.0:0.0	.	174	Q8N123	CPXCR_HUMAN	R	174	ENSP00000276127:K174R;ENSP00000362203:K174R	.	K	+	2	0	CPXCR1	87895592	0.619000	0.27059	0.057000	0.19452	0.139000	0.21198	2.016000	0.40971	1.455000	0.47813	0.481000	0.45027	AAG	.		0.418	CPXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057418.1	NM_033048	
NRK	203447	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	X	105132368	105132368	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chrX:105132368G>A	ENST00000243300.9	+	5	637	c.334G>A	c.(334-336)Gca>Aca	p.A112T	NRK_ENST00000536164.1_Missense_Mutation_p.A112T|NRK_ENST00000428173.2_Missense_Mutation_p.A112T	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	112	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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						CTTCTATGGAGCATTTTTCAA	0.403										HNSCC(51;0.14)																											p.A112T		.											.	NRK-630	0			c.G334A						.						112.0	90.0	97.0					X																	105132368		1890	4100	5990	SO:0001583	missense	203447	exon5			TATGGAGCATTTT	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.334G>A	X.37:g.105132368G>A	ENSP00000434830:p.Ala112Thr	150	0		235	16	NM_198465	0	0	0	0	0	Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	ENST00000243300.9	37		.	.	.	.	.	.	.	.	.	.	G	28.8	4.953783	0.92660	.	.	ENSG00000123572	ENST00000243300;ENST00000428173;ENST00000536164	T;T;T	0.66460	-0.21;-0.21;-0.21	4.95	4.95	0.65309	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.43110	D	0.000606	T	0.74321	0.3701	L	0.33792	1.035	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77910	-0.2411	10	0.87932	D	0	.	16.0077	0.80374	0.0:0.0:1.0:0.0	.	112	Q7Z2Y5	NRK_HUMAN	T	112	ENSP00000434830:A112T;ENSP00000438378:A112T;ENSP00000438785:A112T	ENSP00000434830:A112T	A	+	1	0	NRK	105019024	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.664000	0.98607	2.173000	0.68751	0.594000	0.82650	GCA	.		0.403	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465	
NRK	203447	broad.mit.edu	37	X	105153236	105153236	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chrX:105153236G>A	ENST00000243300.9	+	13	1906	c.1603G>A	c.(1603-1605)Gcc>Acc	p.A535T	NRK_ENST00000428173.2_Missense_Mutation_p.A536T	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	535	Gln-rich.				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						GCAGGGCCAGGCCCCTGAACA	0.572										HNSCC(51;0.14)																											p.A535T		.											.	NRK-630	0			c.G1603A						.						36.0	37.0	37.0					X																	105153236		1989	4151	6140	SO:0001583	missense	203447	exon13			GGCCAGGCCCCTG	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.1603G>A	X.37:g.105153236G>A	ENSP00000434830:p.Ala535Thr	227	0		260	10	NM_198465	0	0	0	0	0	Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	ENST00000243300.9	37		.	.	.	.	.	.	.	.	.	.	G	7.361	0.624773	0.14193	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	T;T	0.24723	1.84;1.84	4.49	2.65	0.31530	.	0.984034	0.08284	N	0.969544	T	0.26085	0.0636	L	0.48642	1.525	0.44048	D	0.996782	B;B	0.34290	0.447;0.079	B;B	0.36244	0.22;0.037	T	0.01401	-1.1364	10	0.40728	T	0.16	.	9.8054	0.40791	0.0905:0.1406:0.7688:0.0	.	203;535	Q7Z2Y5-2;Q7Z2Y5	.;NRK_HUMAN	T	535;536	ENSP00000434830:A535T;ENSP00000438378:A536T	ENSP00000434830:A535T	A	+	1	0	NRK	105039892	0.943000	0.32029	0.011000	0.14972	0.042000	0.13812	1.570000	0.36439	0.226000	0.20979	-0.905000	0.02835	GCC	.		0.572	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465	
COL4A6	1288	ucsc.edu;bcgsc.ca	37	X	107681217	107681217	+	Nonsense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chrX:107681217C>T	ENST00000372216.4	-	2	121	c.21G>A	c.(19-21)tgG>tgA	p.W7*	COL4A5_ENST00000328300.6_5'Flank|COL4A5_ENST00000361603.2_5'Flank|COL4A6_ENST00000545689.1_Nonsense_Mutation_p.W6*|COL4A6_ENST00000538570.1_Nonsense_Mutation_p.W6*|COL4A6_ENST00000334504.7_Nonsense_Mutation_p.W6*|COL4A6_ENST00000394872.2_Nonsense_Mutation_p.W6*|COL4A6_ENST00000461897.1_5'UTR	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	7					cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CCAGGAGCAGCCACAACCTGA	0.602									Alport syndrome with Diffuse Leiomyomatosis																												p.W7X	Melanoma(87;1895 1945 2589 7165)	.											.	COL4A6-199	0			c.G21A						.						66.0	55.0	59.0					X																	107681217		2203	4300	6503	SO:0001587	stop_gained	1288	exon2	Familial Cancer Database		GAGCAGCCACAAC	U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.21G>A	X.37:g.107681217C>T	ENSP00000361290:p.Trp7*	195	2		222	193	NM_001847	0	0	0	0	0	Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Nonsense_Mutation	SNP	ENST00000372216.4	37	CCDS14541.1	.	.	.	.	.	.	.	.	.	.	C	38	7.070956	0.98044	.	.	ENSG00000197565	ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	.	.	.	5.18	5.18	0.71444	.	0.000000	0.35349	N	0.003275	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	13.4987	0.61440	0.0:1.0:0.0:0.0	.	.	.	.	X	7;6;6;6;6;6	.	ENSP00000334733:W6X	W	-	3	0	COL4A6	107567873	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.226000	0.51254	2.495000	0.84180	0.600000	0.82982	TGG	.		0.602	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2		
PAK3	5063	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	110406821	110406821	+	Missense_Mutation	SNP	C	C	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chrX:110406821C>A	ENST00000372010.1	+	11	1119	c.677C>A	c.(676-678)gCt>gAt	p.A226D	PAK3_ENST00000425146.1_Missense_Mutation_p.A211D|PAK3_ENST00000519681.1_Missense_Mutation_p.A232D|PAK3_ENST00000372007.5_Missense_Mutation_p.A211D|PAK3_ENST00000360648.4_Missense_Mutation_p.A247D|PAK3_ENST00000262836.4_Missense_Mutation_p.A226D|PAK3_ENST00000518291.1_Missense_Mutation_p.A247D|PAK3_ENST00000446737.1_Missense_Mutation_p.A211D|PAK3_ENST00000417227.1_Missense_Mutation_p.A232D			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	226	Linker.				activation of MAPK activity (GO:0000187)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|dendritic spine morphogenesis (GO:0060997)|MAPK cascade (GO:0000165)|regulation of actin filament polymerization (GO:0030833)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						GAATCCATTGCTTCACCAGCA	0.408										TSP Lung(19;0.15)																											p.A247D		.											.	PAK3-1043	0			c.C740A						.						140.0	127.0	132.0					X																	110406821		2203	4300	6503	SO:0001583	missense	5063	exon8			CCATTGCTTCACC	AF068864	CCDS14554.1, CCDS48151.1, CCDS48152.1, CCDS48153.1	Xq22.3	2008-06-17	2008-06-17		ENSG00000077264	ENSG00000077264			8592	protein-coding gene	gene with protein product		300142	"""mental retardation, X-linked 47"", ""p21 (CDKN1A)-activated kinase 3"""	MRX30, MRX47		8826460, 9731525	Standard	NM_002578		Approved	hPAK3, bPAK	uc010npv.1	O75914	OTTHUMG00000022202	ENST00000372010.1:c.677C>A	X.37:g.110406821C>A	ENSP00000361080:p.Ala226Asp	102	0		85	75	NM_001128168	0	0	0	0	0	A8K389|B1GX77|B1GX78|B1GX79|Q5JWX1|Q5JWX2|Q7Z2D6|Q7Z2E4|Q7Z3Z8|Q8WWK5|Q8WX23|Q9P0J8	Missense_Mutation	SNP	ENST00000372010.1	37	CCDS48153.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.847439	0.51164	.	.	ENSG00000077264	ENST00000446737;ENST00000425146;ENST00000372010;ENST00000519681;ENST00000372007;ENST00000518291;ENST00000360648;ENST00000417227;ENST00000262836	T;T;T;T;T;T;T;T;T	0.72394	-0.64;-0.64;-0.64;-0.65;-0.64;-0.63;-0.63;-0.65;-0.64	5.95	5.95	0.96441	.	0.173758	0.50627	D	0.000107	T	0.57989	0.2091	N	0.14661	0.345	0.50632	D	0.999886	B;B;B;B	0.28400	0.113;0.21;0.001;0.006	B;B;B;B	0.28784	0.021;0.094;0.001;0.014	T	0.54801	-0.8239	10	0.33940	T	0.23	.	18.9396	0.92600	0.0:1.0:0.0:0.0	.	232;247;226;211	O75914-4;O75914-3;O75914;O75914-2	.;.;PAK3_HUMAN;.	D	211;211;226;232;211;247;247;232;226	ENSP00000410853:A211D;ENSP00000401982:A211D;ENSP00000361080:A226D;ENSP00000429113:A232D;ENSP00000361077:A211D;ENSP00000428921:A247D;ENSP00000353864:A247D;ENSP00000389172:A232D;ENSP00000262836:A226D	ENSP00000262836:A226D	A	+	2	0	PAK3	110293477	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.040000	0.64191	2.519000	0.84933	0.594000	0.82650	GCT	.		0.408	PAK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057918.1	NM_002578	
KLHL13	90293	broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	117033021	117033021	+	Silent	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chrX:117033021C>T	ENST00000262820.3	-	7	2727	c.1818G>A	c.(1816-1818)gtG>gtA	p.V606V	KLHL13_ENST00000371876.1_Silent_p.V555V|KLHL13_ENST00000371878.1_Silent_p.V555V|KLHL13_ENST00000545703.1_Silent_p.V564V|KLHL13_ENST00000540167.1_Silent_p.V590V|KLHL13_ENST00000469946.1_Silent_p.V555V|KLHL13_ENST00000371882.1_Silent_p.V555V|KLHL13_ENST00000539496.1_Silent_p.V609V|KLHL13_ENST00000541812.1_Silent_p.V590V	NM_033495.3	NP_277030.2	Q9P2N7	KLH13_HUMAN	kelch-like family member 13	606					cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						CATATTTCTGCACTATCTCTA	0.428																																					p.V609V		.											.	KLHL13-556	0			c.G1827A						.						196.0	165.0	175.0					X																	117033021		2203	4300	6503	SO:0001819	synonymous_variant	90293	exon8			TTTCTGCACTATC	AB037730	CCDS14571.1, CCDS55479.1, CCDS55480.1, CCDS55481.1	Xq23-q24	2013-01-30	2013-01-30	2004-02-18	ENSG00000003096	ENSG00000003096		"""Kelch-like"", ""BTB/POZ domain containing"""	22931	protein-coding gene	gene with protein product		300655	"""BTB and kelch domain containing 2, KIAA1309"", ""kelch-like 13 (Drosophila)"""	BKLHD2, KIAA1309		10718198	Standard	NM_033495		Approved	FLJ10262	uc011mtp.2	Q9P2N7	OTTHUMG00000022252	ENST00000262820.3:c.1818G>A	X.37:g.117033021C>T		99	1		97	83	NM_001168299	0	0	0	12	12	B3KV78|B3KWM7|B7Z3S9|B7Z5P2|B7Z802|D3DWH6|Q6P2E3|Q96QI7|Q9UDN9	Silent	SNP	ENST00000262820.3	37	CCDS14571.1																																																																																			.		0.428	KLHL13-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_033495	
ZBTB33	10009	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	X	119387857	119387857	+	Frame_Shift_Del	DEL	T	T	-			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chrX:119387857delT	ENST00000326624.2	+	2	815	c.587delT	c.(586-588)attfs	p.I196fs	ZBTB33_ENST00000557385.1_Frame_Shift_Del_p.I196fs	NM_006777.3	NP_006768.1	Q86T24	KAISO_HUMAN	zinc finger and BTB domain containing 33	196					intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						gatgatgTCATTTTTTGCTCC	0.388																																					p.I196fs		.											.	ZBTB33-132	0			c.587delT						.						49.0	43.0	45.0					X																	119387857		2203	4298	6501	SO:0001589	frameshift_variant	10009	exon2			ATGTCATTTTTTG	BC042753	CCDS14596.1	Xq23	2013-01-09			ENSG00000177485	ENSG00000177485		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	16682	protein-coding gene	gene with protein product		300329					Standard	NM_001184742		Approved	ZNF-kaiso, kaiso, WUGSC:H_DJ525N14.1, KAISO, ZNF348	uc004esn.1	Q86T24	OTTHUMG00000171159	ENST00000326624.2:c.587delT	X.37:g.119387857delT	ENSP00000314153:p.Ile196fs	46	0		65	54	NM_006777	0	0	0	0	0	B2R5U6|O00319|Q7Z361|Q8IVP6|Q8N3P0	Frame_Shift_Del	DEL	ENST00000326624.2	37	CCDS14596.1																																																																																			.		0.388	ZBTB33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058085.2	NM_006777	
THOC2	57187	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	122757038	122757038	+	Silent	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chrX:122757038C>T	ENST00000245838.8	-	29	3631	c.3600G>A	c.(3598-3600)gtG>gtA	p.V1200V	THOC2_ENST00000497887.1_5'Flank|THOC2_ENST00000355725.4_Silent_p.V1200V|THOC2_ENST00000491737.1_Silent_p.V1085V	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1200					mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						GCCCATTTTGCACACTGGCAA	0.448																																					p.V1200V		.											.	THOC2-133	0			c.G3600A						.						129.0	118.0	121.0					X																	122757038		1876	4100	5976	SO:0001819	synonymous_variant	57187	exon29			ATTTTGCACACTG	AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"""THO complex subunits"""	19073	protein-coding gene	gene with protein product		300395	"""chromosome X open reading frame 3"""	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.3600G>A	X.37:g.122757038C>T		116	1		88	71	NM_001081550	0	0	1	27	26	A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Silent	SNP	ENST00000245838.8	37	CCDS43988.1	.	.	.	.	.	.	.	.	.	.	C	4.348	0.064099	0.08388	.	.	ENSG00000125676	ENST00000438358	.	.	.	6.07	3.59	0.41128	.	.	.	.	.	T	0.52741	0.1753	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47142	-0.9140	4	.	.	.	-9.4251	4.8786	0.13668	0.14:0.1539:0.0:0.7061	.	.	.	.	T	295	.	.	A	-	1	0	THOC2	122584719	0.963000	0.33076	1.000000	0.80357	0.957000	0.61999	0.024000	0.13555	0.903000	0.36546	-0.512000	0.04463	GCA	.		0.448	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3		
THOC2	57187	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	122820490	122820490	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chrX:122820490C>T	ENST00000245838.8	-	8	707	c.676G>A	c.(676-678)Gac>Aac	p.D226N	THOC2_ENST00000355725.4_Missense_Mutation_p.D226N|THOC2_ENST00000491737.1_Missense_Mutation_p.D111N	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	226					mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						ATAAAGAAGTCATCGTGTTCT	0.358																																					p.D226N		.											.	THOC2-133	0			c.G676A						.						138.0	124.0	129.0					X																	122820490		1859	4087	5946	SO:0001583	missense	57187	exon8			AGAAGTCATCGTG	AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"""THO complex subunits"""	19073	protein-coding gene	gene with protein product		300395	"""chromosome X open reading frame 3"""	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.676G>A	X.37:g.122820490C>T	ENSP00000245838:p.Asp226Asn	124	0		120	105	NM_001081550	0	0	0	6	6	A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Missense_Mutation	SNP	ENST00000245838.8	37	CCDS43988.1	.	.	.	.	.	.	.	.	.	.	C	18.08	3.544598	0.65198	.	.	ENSG00000125676	ENST00000245838;ENST00000355725;ENST00000491737;ENST00000408933	.	.	.	5.97	5.97	0.96955	.	0.177436	0.37483	N	0.002065	T	0.53706	0.1813	L	0.39020	1.185	0.80722	D	1	B;B	0.27559	0.181;0.005	B;B	0.23419	0.046;0.007	T	0.48948	-0.8989	9	0.17369	T	0.5	-10.0634	19.2739	0.94023	0.0:1.0:0.0:0.0	.	147;226	B4DKZ6;Q8NI27	.;THOC2_HUMAN	N	226;226;111;147	.	ENSP00000245838:D226N	D	-	1	0	THOC2	122648171	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	6.026000	0.70873	2.504000	0.84457	0.594000	0.82650	GAC	.		0.358	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3		
STAG2	10735	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	123215366	123215366	+	Missense_Mutation	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chrX:123215366C>T	ENST00000371160.1	+	28	3202	c.2912C>T	c.(2911-2913)gCc>gTc	p.A971V	STAG2_ENST00000469481.1_Intron|STAG2_ENST00000354548.5_Missense_Mutation_p.A902V|STAG2_ENST00000371144.3_Missense_Mutation_p.A971V|STAG2_ENST00000371145.3_Missense_Mutation_p.A971V|STAG2_ENST00000371157.3_Missense_Mutation_p.A971V|STAG2_ENST00000218089.9_Missense_Mutation_p.A971V	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	971				A -> T (in Ref. 1; CAH18271). {ECO:0000305}.	meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						GAAGCCATTGCCATGCTACAC	0.323																																					p.A971V		.											.	STAG2-134	0			c.C2912T						.						100.0	95.0	97.0					X																	123215366		2203	4300	6503	SO:0001583	missense	10735	exon28			CCATTGCCATGCT	Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.2912C>T	X.37:g.123215366C>T	ENSP00000360202:p.Ala971Val	59	0		70	63	NM_001042749	0	0	0	0	0	B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Missense_Mutation	SNP	ENST00000371160.1	37	CCDS14607.1	.	.	.	.	.	.	.	.	.	.	C	16.93	3.257046	0.59321	.	.	ENSG00000101972	ENST00000218089;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	T;T;T;T;T;T	0.30182	1.92;1.55;1.54;1.54;1.92;1.54	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.36608	0.0973	N	0.22421	0.69	0.80722	D	1	D;B	0.69078	0.997;0.376	D;B	0.63877	0.919;0.175	T	0.04650	-1.0936	10	0.02654	T	1	-11.1536	19.0619	0.93096	0.0:1.0:0.0:0.0	.	971;971	Q8N3U4-2;Q8N3U4	.;STAG2_HUMAN	V	971;902;971;971;971;971	ENSP00000218089:A971V;ENSP00000346555:A902V;ENSP00000360202:A971V;ENSP00000360199:A971V;ENSP00000360187:A971V;ENSP00000360186:A971V	ENSP00000218089:A971V	A	+	2	0	STAG2	123043047	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.452000	0.82932	0.538000	0.68166	GCC	.		0.323	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603	
DCAF12L2	340578	broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	125298569	125298569	+	Missense_Mutation	SNP	C	C	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chrX:125298569C>A	ENST00000360028.2	-	1	1365	c.1339G>T	c.(1339-1341)Ggg>Tgg	p.G447W	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.G447W			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	447										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						AGAGGCCCCCCAGCCACAAAG	0.552																																					p.G447W		.											.	DCAF12L2-113	0			c.G1339T						.						78.0	83.0	81.0					X																	125298569		2203	4300	6503	SO:0001583	missense	340578	exon1			GCCCCCCAGCCAC	AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"""WD repeat domain containing"""	32950	protein-coding gene	gene with protein product			"""WD repeat domain 40C"""	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.1339G>T	X.37:g.125298569C>A	ENSP00000353128:p.Gly447Trp	140	2		171	140	NM_001013628	0	0	0	0	0	B2RN42	Missense_Mutation	SNP	ENST00000360028.2	37	CCDS43991.1	.	.	.	.	.	.	.	.	.	.	C	18.79	3.698659	0.68501	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.70986	-0.53;-0.53	3.93	3.93	0.45458	.	0.000000	0.36591	N	0.002515	D	0.82328	0.5013	M	0.73598	2.24	0.52099	D	0.999948	D	0.89917	1.0	D	0.97110	1.0	D	0.84670	0.0711	10	0.87932	D	0	.	12.9304	0.58284	0.0:1.0:0.0:0.0	.	447	Q5VW00	DC122_HUMAN	W	447	ENSP00000441489:G447W;ENSP00000353128:G447W	ENSP00000353128:G447W	G	-	1	0	DCAF12L2	125126250	1.000000	0.71417	0.972000	0.41901	0.966000	0.64601	6.814000	0.75236	2.209000	0.71365	0.600000	0.82982	GGG	.		0.552	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628	
IGSF1	3547	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	130416500	130416500	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chrX:130416500G>A	ENST00000361420.3	-	7	1243	c.1164C>T	c.(1162-1164)ggC>ggT	p.G388G	IGSF1_ENST00000370910.1_Silent_p.G379G|IGSF1_ENST00000370904.1_Silent_p.G379G|IGSF1_ENST00000370903.3_Silent_p.G388G			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	388	Ig-like C2-type 4.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						AGCTATAGATGCCAGTATCAC	0.428																																					p.G388G		.											.	IGSF1-133	0			c.C1164T						.						141.0	112.0	122.0					X																	130416500		2203	4300	6503	SO:0001819	synonymous_variant	3547	exon7			ATAGATGCCAGTA	AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.1164C>T	X.37:g.130416500G>A		148	1		196	174	NM_001555	0	0	0	0	0	B5MEG2|H9KV64|O15070|Q9NTC8	Silent	SNP	ENST00000361420.3	37	CCDS14629.1																																																																																			.		0.428	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1		
MAGEC3	139081	broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	140926205	140926205	+	Missense_Mutation	SNP	T	T	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chrX:140926205T>C	ENST00000298296.1	+	1	104	c.104T>C	c.(103-105)gTg>gCg	p.V35A		NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	35										NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					TCCCCAGTGGTGCTCCCACCT	0.552																																					p.V35A		.											.	MAGEC3-555	0			c.T104C						.						134.0	103.0	113.0					X																	140926205		2203	4300	6503	SO:0001583	missense	139081	exon1			CAGTGGTGCTCCC	AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 2"""	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.104T>C	X.37:g.140926205T>C	ENSP00000298296:p.Val35Ala	102	1		174	152	NM_138702	0	0	0	0	0	Q3SYA7|Q5JZ43|Q9BZ80	Missense_Mutation	SNP	ENST00000298296.1	37	CCDS14676.1	.	.	.	.	.	.	.	.	.	.	T	5.289	0.238720	0.10023	.	.	ENSG00000165509	ENST00000298296	T	0.10668	2.85	0.427	0.427	0.16489	.	.	.	.	.	T	0.07548	0.0190	N	0.08118	0	0.09310	N	1	P	0.43392	0.805	P	0.47134	0.539	T	0.32348	-0.9910	8	0.87932	D	0	.	.	.	.	.	35	Q8TD91	MAGC3_HUMAN	A	35	ENSP00000298296:V35A	ENSP00000298296:V35A	V	+	2	0	MAGEC3	140753871	0.060000	0.20803	0.013000	0.15412	0.013000	0.08279	0.310000	0.19356	0.350000	0.24002	0.345000	0.21793	GTG	.		0.552	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058606.1	NM_138702	
MTMR1	8776	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	149931073	149931073	+	Silent	SNP	C	C	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chrX:149931073C>A	ENST00000370390.3	+	15	2026	c.1869C>A	c.(1867-1869)gcC>gcA	p.A623A	MTMR1_ENST00000445323.2_Silent_p.A631A|MTMR1_ENST00000544228.1_Silent_p.A623A|MTMR1_ENST00000541925.1_Silent_p.A529A|MTMR1_ENST00000538506.1_Intron	NM_003828.2	NP_003819.1	Q13613	MTMR1_HUMAN	myotubularin related protein 1	623					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					AGCTGCTGGCCGTCAGGGCGG	0.622																																					p.A623A		.											.	MTMR1-131	0			c.C1869A						.						77.0	65.0	69.0					X																	149931073		2203	4300	6503	SO:0001819	synonymous_variant	8776	exon15			GCTGGCCGTCAGG	U58032	CCDS14695.1	Xq28	2011-06-09			ENSG00000063601	ENSG00000063601		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7449	protein-coding gene	gene with protein product		300171				9828128	Standard	XM_005274765		Approved		uc004fei.3	Q13613	OTTHUMG00000024159	ENST00000370390.3:c.1869C>A	X.37:g.149931073C>A		178	1		255	223	NM_003828	0	0	0	11	11	A0A024RC07|Q9UBX6|Q9UEM0|Q9UQD5	Silent	SNP	ENST00000370390.3	37	CCDS14695.1																																																																																			.		0.622	MTMR1-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060863.2	NM_003828, NM_176789	
PRRG3	79057	ucsc.edu;bcgsc.ca	37	X	150869181	150869181	+	Silent	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chrX:150869181C>T	ENST00000370353.3	+	4	762	c.372C>T	c.(370-372)cgC>cgT	p.R124R	PRRG3_ENST00000370354.1_3'UTR|PRRG3_ENST00000538575.1_Silent_p.R124R			Q9BZD7	TMG3_HUMAN	proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane)	124						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					TAGCCAGTCGCGCCGGGCACA	0.632																																					p.R124R		.											.	PRRG3-134	0			c.C372T						.						72.0	74.0	73.0					X																	150869181		2203	4300	6503	SO:0001819	synonymous_variant	79057	exon4			CAGTCGCGCCGGG	AK074574	CCDS14699.1	Xq28	2008-02-05			ENSG00000130032	ENSG00000130032			30798	protein-coding gene	gene with protein product		300685				11171957	Standard	NM_024082		Approved	TMG3	uc022cgt.1	Q9BZD7	OTTHUMG00000024170	ENST00000370353.3:c.372C>T	X.37:g.150869181C>T		118	2		134	113	NM_024082	0	0	0	0	0	A1A523|A1A575|Q8N2N6	Silent	SNP	ENST00000370353.3	37	CCDS14699.1																																																																																			.		0.632	PRRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060880.1	NM_024082	
MAGEA1	4100	broad.mit.edu	37	X	152482236	152482236	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chrX:152482236G>A	ENST00000356661.5	-	3	993	c.775C>T	c.(775-777)Ccc>Tcc	p.P259S		NM_004988.4	NP_004979.3	P43355	MAGA1_HUMAN	melanoma antigen family A, 1 (directs expression of antigen MZ2-E)	259	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone deacetylase binding (GO:0042826)			breast(1)|central_nervous_system(7)|kidney(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TAGCGTGCGGGATCACTGTCC	0.562																																					p.P259S		.											.	MAGEA1-622	0			c.C775T						.						101.0	96.0	97.0					X																	152482236		2203	4300	6503	SO:0001583	missense	4100	exon3			GTGCGGGATCACT		CCDS76051.1	Xq28	2010-05-26			ENSG00000198681	ENSG00000198681			6796	protein-coding gene	gene with protein product	"""melanoma-associated antigen 1"", ""melanoma-associated antigen MZ2-E"", ""melanoma antigen MAGE-1"", ""melanoma antigen family A 1"", ""cancer/testis antigen family 1, member 1"""	300016		MAGE1		1840703	Standard	NM_004988		Approved	MGC9326, CT1.1	uc004fhf.2	P43355	OTTHUMG00000024192	ENST00000356661.5:c.775C>T	X.37:g.152482236G>A	ENSP00000349085:p.Pro259Ser	134	1		444	10	NM_004988	0	0	1	1	0	B2RC81|O00346	Missense_Mutation	SNP	ENST00000356661.5	37	CCDS14720.1	.	.	.	.	.	.	.	.	.	.	G	12.08	1.829501	0.32329	.	.	ENSG00000198681	ENST00000356661	T	0.06068	3.35	1.28	1.28	0.21552	.	0.000000	0.85682	D	0.000000	T	0.26048	0.0635	M	0.93197	3.39	0.09310	N	1	D	0.76494	0.999	D	0.74023	0.982	T	0.03086	-1.1074	10	0.66056	D	0.02	.	5.5207	0.16931	0.0:0.0:1.0:0.0	.	259	P43355	MAGA1_HUMAN	S	259	ENSP00000349085:P259S	ENSP00000349085:P259S	P	-	1	0	MAGEA1	152135430	0.019000	0.18553	0.042000	0.18584	0.011000	0.07611	1.510000	0.35790	0.924000	0.37069	0.190000	0.17370	CCC	.		0.562	MAGEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060940.1	NM_004988	
ZFP92	139735	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	152685761	152685761	+	Missense_Mutation	SNP	G	G	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chrX:152685761G>T	ENST00000338647.5	+	3	237	c.236G>T	c.(235-237)aGa>aTa	p.R79I		NM_001136273.1	NP_001129745.1	A6NM28	ZFP92_HUMAN	ZFP92 zinc finger protein	79	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)			breast(2)|endometrium(4)	6						GACATCCCCAGAACCTGGGCC	0.567																																					p.R79I		.											.	ZFP92-62	0			c.G236T						.						74.0	59.0	63.0					X																	152685761		692	1591	2283	SO:0001583	missense	139735	exon3			TCCCCAGAACCTG	U82695	CCDS59177.1	Xq28	2013-01-08	2012-11-27		ENSG00000189420	ENSG00000189420		"""Zinc fingers, C2H2-type"", ""-"""	12865	protein-coding gene	gene with protein product			"""zinc finger protein homologous to Zfp92 in mouse"", ""zinc finger protein 92 homolog (mouse)"""				Standard	NM_001136273		Approved	ZNF897	uc011myo.2	A6NM28	OTTHUMG00000024198	ENST00000338647.5:c.236G>T	X.37:g.152685761G>T	ENSP00000462054:p.Arg79Ile	60	0		205	80	NM_001136273	0	0	0	0	0		Missense_Mutation	SNP	ENST00000338647.5	37	CCDS59177.1																																																																																			.		0.567	ZFP92-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332220.2		
ABCD1	215	hgsc.bcm.edu;broad.mit.edu	37	X	152994692	152994692	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chrX:152994692G>A	ENST00000218104.3	+	2	1305	c.906G>A	c.(904-906)gaG>gaA	p.E302E	ABCD1_ENST00000370129.4_Silent_p.E117E	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	302	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.		E -> K (in ALD).		alpha-linolenic acid metabolic process (GO:0036109)|ATP catabolic process (GO:0006200)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|linoleic acid metabolic process (GO:0043651)|long-chain fatty acid catabolic process (GO:0042758)|peroxisomal long-chain fatty acid import (GO:0015910)|peroxisomal membrane transport (GO:0015919)|peroxisome organization (GO:0007031)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid catabolic process (GO:0042760)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|peroxisomal fatty-acyl-CoA transporter activity (GO:0005325)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGCAGGTGGAGCTGGCCCTGC	0.622													G|||	1	0.000264901	0.0008	0.0	3775	,	,		13660	0.0		0.0	False		,,,				2504	0.0				p.E302E		.											.	ABCD1-130	0			c.G906A						.						100.0	65.0	77.0					X																	152994692		2203	4300	6503	SO:0001819	synonymous_variant	215	exon2			GGTGGAGCTGGCC	Z21876	CCDS14728.1	Xq28	2012-03-14			ENSG00000101986	ENSG00000101986		"""ATP binding cassette transporters / subfamily D"""	61	protein-coding gene	gene with protein product		300371		ALD		8441467, 6795626	Standard	NM_000033		Approved	AMN, ALDP, adrenoleukodystrophy	uc004fif.2	P33897	OTTHUMG00000024215	ENST00000218104.3:c.906G>A	X.37:g.152994692G>A		62	0		80	4	NM_000033	0	0	1	1	0	Q6GTZ2	Silent	SNP	ENST00000218104.3	37	CCDS14728.1																																																																																			.		0.622	ABCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061041.1	NM_000033	
FLNA	2316	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	153577327	153577327	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chrX:153577327G>A	ENST00000369850.3	-	48	8070	c.7834C>T	c.(7834-7836)Cgg>Tgg	p.R2612W	FLNA_ENST00000369856.3_Missense_Mutation_p.R745W|FLNA_ENST00000422373.1_Missense_Mutation_p.R2604W|FLNA_ENST00000344736.4_Missense_Mutation_p.R2572W|FLNA_ENST00000360319.4_Missense_Mutation_p.R2604W|FLNA_ENST00000498491.1_5'UTR	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	2612	Self-association site, tail.				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)					CTGTAGAGCCGGCTGCCCACG	0.622																																					p.R2612W		.											.	FLNA-599	0			c.C7834T						.						69.0	74.0	72.0					X																	153577327		2134	4208	6342	SO:0001583	missense	2316	exon48			AGAGCCGGCTGCC	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.7834C>T	X.37:g.153577327G>A	ENSP00000358866:p.Arg2612Trp	144	0		192	172	NM_001110556	0	0	32	234	202	E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.080585	0.76528	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000369856;ENST00000344736	D;D;D;D;D	0.84873	-1.91;-1.91;-1.91;-1.91;-1.91	5.74	2.71	0.32032	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.071339	0.56097	D	0.000035	D	0.91274	0.7249	M	0.84846	2.72	0.45662	D	0.998587	D;D;D;D	0.76494	0.997;0.997;0.999;0.999	P;P;D;D	0.63793	0.642;0.764;0.918;0.918	D	0.91298	0.5064	10	0.87932	D	0	.	11.7343	0.51757	0.0:0.119:0.647:0.234	.	745;2604;2612;2612	E9PHF0;P21333-2;P21333;E9KL45	.;.;FLNA_HUMAN;.	W	2604;2280;2604;2612;745;2572	ENSP00000353467:R2604W;ENSP00000416926:R2604W;ENSP00000358866:R2612W;ENSP00000358872:R745W;ENSP00000358863:R2572W	ENSP00000358863:R2572W	R	-	1	2	FLNA	153230521	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	3.732000	0.55021	0.543000	0.28864	0.529000	0.55759	CGG	.		0.622	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3		
FLNA	2316	broad.mit.edu;bcgsc.ca;mdanderson.org	37	X	153599554	153599554	+	Silent	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chrX:153599554G>A	ENST00000369850.3	-	2	296	c.60C>T	c.(58-60)ggC>ggT	p.G20G	FLNA_ENST00000422373.1_Silent_p.G20G|FLNA_ENST00000344736.4_Silent_p.G20G|FLNA_ENST00000360319.4_Silent_p.G20G	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	20	Actin-binding.				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)					GCGTGTCGACGCCGCCGCCCG	0.706																																					p.G20G		.											.	FLNA-599	0			c.C60T						.						11.0	11.0	11.0					X																	153599554		2154	4207	6361	SO:0001819	synonymous_variant	2316	exon2			GTCGACGCCGCCG	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.60C>T	X.37:g.153599554G>A		41	1		145	131	NM_001456	0	0	7	110	103	E9KL45|Q5HY53|Q5HY55|Q8NF52	Silent	SNP	ENST00000369850.3	37	CCDS48194.1																																																																																			.		0.706	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3		
PLXNA3	55558	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	153689660	153689660	+	Silent	SNP	C	C	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chrX:153689660C>T	ENST00000369682.3	+	3	991	c.816C>T	c.(814-816)ttC>ttT	p.F272F		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	272	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-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)					ACTCAGAGTTCTACTCATACG	0.627																																					p.F272F		.											.	PLXNA3-132	0			c.C816T						.						92.0	87.0	89.0					X																	153689660		2203	4300	6503	SO:0001819	synonymous_variant	55558	exon3			AGAGTTCTACTCA	X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"""Plexins"""	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.816C>T	X.37:g.153689660C>T		69	0		106	87	NM_017514	0	0	2	18	16	Q5HY36	Silent	SNP	ENST00000369682.3	37	CCDS14752.1																																																																																			.		0.627	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514	
FAM3A	60343	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	153740192	153740192	+	Missense_Mutation	SNP	G	G	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chrX:153740192G>A	ENST00000447601.2	-	3	606	c.140C>T	c.(139-141)tCg>tTg	p.S47L	FAM3A_ENST00000492763.1_5'UTR|FAM3A_ENST00000434658.2_Missense_Mutation_p.S47L|FAM3A_ENST00000393572.1_Missense_Mutation_p.S9L|FAM3A_ENST00000359889.5_Missense_Mutation_p.S47L|FAM3A_ENST00000369643.1_Missense_Mutation_p.S47L|FAM3A_ENST00000369641.3_Missense_Mutation_p.S47L	NM_021806.2	NP_068578.2	P98173	FAM3A_HUMAN	family with sequence similarity 3, member A	47						extracellular region (GO:0005576)				kidney(2)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-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)					TGCAGTCACCGAGCTCTCTGG	0.617											OREG0003614	type=REGULATORY REGION|Gene=FAM3A|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									p.S47L		.											.	FAM3A-130	0			c.C140T						.						117.0	79.0	92.0					X																	153740192		2203	4300	6503	SO:0001583	missense	60343	exon3			GTCACCGAGCTCT	X74610	CCDS35453.1, CCDS55542.1, CCDS55543.1, CCDS76060.1	Xq28	2008-07-29			ENSG00000071889	ENSG00000071889			13749	protein-coding gene	gene with protein product		300492				8733135, 8281148	Standard	NM_021806		Approved	DXS560S, 2-19, XAP-7	uc004fls.2	P98173	OTTHUMG00000013418	ENST00000447601.2:c.140C>T	X.37:g.153740192G>A	ENSP00000416146:p.Ser47Leu	21	0	1757	34	29	NM_001171134	0	0	0	0	0	A6QRH6|B2RBI7|B4DFI8|D3DWX4|Q5HY76|Q96H51	Missense_Mutation	SNP	ENST00000447601.2	37	CCDS35453.1	.	.	.	.	.	.	.	.	.	.	G	10.83	1.460114	0.26248	.	.	ENSG00000071889	ENST00000434658;ENST00000359889;ENST00000369643;ENST00000447601;ENST00000369641;ENST00000393572;ENST00000426266;ENST00000442929	T;T;T;T;T;T;T	0.58210	1.91;0.64;0.64;0.64;2.23;0.35;1.9	3.73	3.73	0.42828	.	2.125870	0.01958	N	0.043118	T	0.38081	0.1027	N	0.14661	0.345	0.28225	N	0.926369	B;B;B;B	0.29188	0.029;0.236;0.017;0.017	B;B;B;B	0.20577	0.009;0.03;0.006;0.003	T	0.25047	-1.0143	10	0.28530	T	0.3	.	10.1753	0.42935	0.0:0.0:1.0:0.0	.	47;47;61;47	B4DFI8;Q5HY75;D3DWX8;P98173	.;.;.;FAM3A_HUMAN	L	47;47;47;47;47;9;47;9	ENSP00000396243:S47L;ENSP00000352955:S47L;ENSP00000358657:S47L;ENSP00000416146:S47L;ENSP00000358655:S47L;ENSP00000377202:S9L;ENSP00000396845:S47L	ENSP00000352955:S47L	S	-	2	0	FAM3A	153393386	0.990000	0.36364	0.986000	0.45419	0.827000	0.46813	2.632000	0.46511	1.855000	0.53841	0.431000	0.28591	TCG	.		0.617	FAM3A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037362.2		
MACF1	23499	hgsc.bcm.edu;bcgsc.ca	37	1	39751304	39751305	+	Frame_Shift_Ins	INS	-	-	GGTA	rs138060421	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:39751304_39751305insGGTA	ENST00000372915.3	+	13	1484_1485	c.1397_1398insGGTA	c.(1396-1401)ccggtafs	p.-467fs	MACF1_ENST00000361689.2_Frame_Shift_Ins_p.-467fs|MACF1_ENST00000564288.1_Frame_Shift_Ins_p.-462fs|MACF1_ENST00000545844.1_Frame_Shift_Ins_p.-467fs|MACF1_ENST00000539005.1_Frame_Shift_Ins_p.-467fs|MACF1_ENST00000317713.7_Frame_Shift_Ins_p.-467fs|MACF1_ENST00000567887.1_Frame_Shift_Ins_p.-499fs			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1						ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TCAGGACAACCGGTACAATGTG	0.495																																					p.P466fs		.											.	MACF1-165	0			c.1397_1398insGGTA						.																																			SO:0001589	frameshift_variant	23499	exon15			GACAACCGGTACA	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.1398_1401dupGGTA	1.37:g.39751305_39751308dupGGTA	ENSP00000362006:p.Val467fs	181	1		214	73	NM_012090	0	0	0	0	0	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Frame_Shift_Ins	INS	ENST00000372915.3	37																																																																																				.		0.495	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044	
LRRC42	115353	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	54423901	54423902	+	Frame_Shift_Ins	INS	-	-	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:54423901_54423902insT	ENST00000371370.3	+	4	1074_1075	c.553_554insT	c.(553-555)cttfs	p.L185fs	LRRC42_ENST00000319223.4_Frame_Shift_Ins_p.L185fs	NM_001256409.1	NP_001243338.1	Q9Y546	LRC42_HUMAN	leucine rich repeat containing 42	185										breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						CTGTTGCAAGCTTGGAGATGAG	0.45																																					p.L185fs		.											.	LRRC42-90	0			c.553_554insT						.																																			SO:0001589	frameshift_variant	115353	exon4			TGCAAGCTTGGAG	AK075201	CCDS585.1	1p33-p32.1	2014-02-12			ENSG00000116212	ENSG00000116212			28792	protein-coding gene	gene with protein product						12477932	Standard	NM_001256409		Approved	MGC8974	uc001cwj.2	Q9Y546	OTTHUMG00000008436	ENST00000371370.3:c.555dupT	1.37:g.54423903_54423903dupT	ENSP00000360421:p.Leu185fs	120	0		167	52	NM_001256409	0	0	0	0	0	D3DQ46|Q8N2Q8	Frame_Shift_Ins	INS	ENST00000371370.3	37	CCDS585.1																																																																																			.		0.450	LRRC42-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023250.1	NM_052940	
DPYD	1806	hgsc.bcm.edu;bcgsc.ca	37	1	98165042	98165043	+	Frame_Shift_Ins	INS	-	-	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:98165042_98165043insT	ENST00000370192.3	-	6	644_645	c.544_545insA	c.(544-546)atgfs	p.M182fs	DPYD_ENST00000423006.2_3'UTR|DPYD_ENST00000474241.1_5'UTR	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	182					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	GGCTTCAGACATTTTTTCTGGG	0.426																																					p.M182fs		.											.	DPYD-278	0			c.545_546insA	GRCh37	CM035640	DPYD	M		.																																			SO:0001589	frameshift_variant	1806	exon6			TCAGACATTTTTT	U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.545dupA	1.37:g.98165048_98165048dupT	ENSP00000359211:p.Met182fs	96	1		102	41	NM_000110	0	0	0	0	0	A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Frame_Shift_Ins	INS	ENST00000370192.3	37	CCDS30777.1																																																																																			.		0.426	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110	
AKNAD1	254268	hgsc.bcm.edu	37	1	109369885	109369886	+	Frame_Shift_Ins	INS	-	-	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:109369885_109369886insT	ENST00000370001.3	-	11	2145_2146	c.1877_1878insA	c.(1876-1878)aacfs	p.N626fs	AKNAD1_ENST00000369995.3_Frame_Shift_Ins_p.N626fs|AKNAD1_ENST00000369994.1_Frame_Shift_Ins_p.N596fs|AKNAD1_ENST00000357393.4_Frame_Shift_Ins_p.N333fs	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	626						cytoplasm (GO:0005737)				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						ATCTTCCACAGTTGATCCTTCC	0.421																																					p.N626fs		.											.	AKNAD1-93	0			c.1878_1879insA						.																																			SO:0001589	frameshift_variant	254268	exon11			TCCACAGTTGATC	AK095517	CCDS791.2	1p13.3	2009-10-29	2009-10-29	2009-10-29	ENSG00000162641	ENSG00000162641			28398	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 62"""	C1orf62			Standard	NM_152763		Approved	MGC26989	uc001dwa.4	Q5T1N1	OTTHUMG00000011231	ENST00000370001.3:c.1878dupA	1.37:g.109369887_109369887dupT	ENSP00000359018:p.Asn626fs	93	2		96	38	NM_152763	0	0	0	0	0	B9EK62|Q5T1N0|Q8N990|Q8NCN9	Frame_Shift_Ins	INS	ENST00000370001.3	37	CCDS791.2																																																																																			.		0.421	AKNAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030923.2	NM_152763	
SYCP1	6847	hgsc.bcm.edu	37	1	115537600	115537601	+	Frame_Shift_Ins	INS	-	-	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:115537600_115537601insA	ENST00000369522.3	+	32	3131_3132	c.2891_2892insA	c.(2890-2895)agaaaafs	p.RK964fs	SYCP1_ENST00000477590.1_3'UTR|SYCP1_ENST00000369518.1_Frame_Shift_Ins_p.RK964fs	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	964	Arg/Lys-rich (basic).				chiasma assembly (GO:0051026)|lateral element assembly (GO:0051878)|meiotic DNA repair synthesis (GO:0000711)|reciprocal meiotic recombination (GO:0007131)|regulation of protein localization (GO:0032880)|sperm chromatin condensation (GO:0035092)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)|male germ cell nucleus (GO:0001673)|transverse filament (GO:0000802)	DNA binding (GO:0003677)		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAAATGGATAGAAAAAAAAAAC	0.356																																					p.R964fs		.											.	SYCP1-91	0			c.2891_2892insA						.																																			SO:0001589	frameshift_variant	6847	exon32			TGGATAGAAAAAA	D67035	CCDS879.1, CCDS72840.1	1p13-p12	2009-03-12			ENSG00000198765	ENSG00000198765			11487	protein-coding gene	gene with protein product	"""cancer/testis antigen 8"""	602162				9560255	Standard	XM_005271154		Approved	HOM-TES-14, SCP1, CT8	uc001efr.3	Q15431	OTTHUMG00000012057	ENST00000369522.3:c.2901dupA	1.37:g.115537610_115537610dupA	ENSP00000358535:p.Arg964fs	69	2		94	23	NM_003176	0	0	0	0	0	O14963|Q5VXJ6	Frame_Shift_Ins	INS	ENST00000369522.3	37	CCDS879.1																																																																																			.		0.356	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033386.1	NM_003176	
SNRPE	6635	bcgsc.ca	37	1	203832838	203832839	+	Frame_Shift_Ins	INS	-	-	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:203832838_203832839insC	ENST00000414487.2	+	3	174_175	c.129_130insC	c.(130-132)gaafs	p.E44fs	SNRPE_ENST00000483099.1_3'UTR|SNRPE_ENST00000367208.1_Frame_Shift_Ins_p.E4fs	NM_003094.2	NP_003085.1	P62304	RUXE_HUMAN	small nuclear ribonucleoprotein polypeptide E	44					gene expression (GO:0010467)|hair cycle (GO:0042633)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|methylosome (GO:0034709)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pICln-Sm protein complex (GO:0034715)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U12-type spliceosomal complex (GO:0005689)|U4 snRNP (GO:0005687)|U7 snRNP (GO:0005683)	RNA binding (GO:0003723)			breast(1)|large_intestine(2)|lung(1)|skin(1)	5	all_cancers(21;0.103)		BRCA - Breast invasive adenocarcinoma(75;0.109)			ATATGCGGATAGAAGGCTGTAT	0.411																																					p.I43fs	Ovarian(83;324 1318 17952 32395 39614)	.											.	SNRPE-514	0			c.129_130insC						.																																			SO:0001589	frameshift_variant	6635	exon3			GCGGATAGAAGGC	M37716	CCDS30979.1	1q32	2011-10-11			ENSG00000182004	ENSG00000182004			11161	protein-coding gene	gene with protein product		128260				1835977, 2143747	Standard	NM_003094		Approved	Sm-E	uc001hai.3	P62304	OTTHUMG00000035985	Exception_encountered	1.37:g.203832838_203832839insC	ENSP00000400591:p.Glu44fs	316	2		321	139	NM_003094	0	0	0	0	0	B2R5B9|P08578|Q15498|Q5BKT2	Frame_Shift_Ins	INS	ENST00000414487.2	37	CCDS30979.1																																																																																			.		0.411	SNRPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087703.1	NM_003094	
KIN	22944	broad.mit.edu;bcgsc.ca	37	10	7817764	7817765	+	Splice_Site	INS	-	-	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:7817764_7817765insA	ENST00000379562.4	-	6	606		c.e6-2		KIN_ENST00000543003.1_Splice_Site|KIN_ENST00000535925.1_Splice_Site	NM_012311.3	NP_036443.1			Kin17 DNA and RNA binding protein											endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						AGGGACCTCCTAAAAAAAAGAA	0.317																																					.		.											.	KIN-230	0			c.559-2->T						.																																			SO:0001630	splice_region_variant	22944	exon7			ACCTCCTAAAAAA	AJ005273	CCDS7080.1	10p15-p14	2014-07-15	2014-07-15		ENSG00000151657	ENSG00000151657			6327	protein-coding gene	gene with protein product		601720	"""antigenic determinant of recA protein (mouse) homolog"", ""KIN, antigenic determinant of recA protein homolog (mouse)"""			1923796, 24140279	Standard	NM_012311		Approved	KIN17, Rts2	uc001ijt.3	O60870	OTTHUMG00000017634	ENST00000379562.4:c.559-2->T	10.37:g.7817772_7817772dupA		25	0		32	9	NM_012311	0	0	0	0	0		Splice_Site	INS	ENST00000379562.4	37	CCDS7080.1																																																																																			.		0.317	KIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046683.2	NM_012311	Intron
TRDMT1	1787	broad.mit.edu	37	10	17199765	17199766	+	Frame_Shift_Ins	INS	-	-	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:17199765_17199766insG	ENST00000377799.3	-	8	608_609	c.561_562insC	c.(559-564)cccaaafs	p.K188fs	TRDMT1_ENST00000488990.1_Frame_Shift_Ins_p.K65fs|TRDMT1_ENST00000351358.4_Frame_Shift_Ins_p.K142fs|TRDMT1_ENST00000457442.2_Frame_Shift_Ins_p.K107fs|TRDMT1_ENST00000358282.7_3'UTR|TRDMT1_ENST00000452380.2_5'UTR|TRDMT1_ENST00000412821.3_Frame_Shift_Ins_p.K164fs|TRDMT1_ENST00000377766.5_Frame_Shift_Ins_p.Q116fs	NM_004412.5	NP_004403.1	O14717	TRDMT_HUMAN	tRNA aspartic acid methyltransferase 1	188	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|response to amphetamine (GO:0001975)|tRNA methylation (GO:0030488)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|RNA binding (GO:0003723)|tRNA methyltransferase activity (GO:0008175)			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	18					Pentamidine(DB00738)	GATTCAATTTTGGGGAACTCCA	0.312																																					p.K188fs		.											.	TRDMT1-227	0			c.562_563insC						.																																			SO:0001589	frameshift_variant	1787	exon8			CAATTTTGGGGAA	AJ223333	CCDS7114.1	10p15.1	2006-10-23	2006-10-23	2006-10-23	ENSG00000107614	ENSG00000107614	2.1.1.37		2977	protein-coding gene	gene with protein product		602478	"""DNA (cytosine-5-)-methyltransferase 2"""	DNMT2		9425235, 9763678, 16424344	Standard	NM_004412		Approved	RNMT1	uc001iop.3	O14717	OTTHUMG00000017745	ENST00000377799.3:c.562dupC	10.37:g.17199769_17199769dupG	ENSP00000367030:p.Lys188fs	13	0		14	6	NM_004412	0	0	0	0	0	B0YJ02|B0YJ03|B0YJ07|B0YJ08|O43669|Q86WW6	Frame_Shift_Ins	INS	ENST00000377799.3	37	CCDS7114.1																																																																																			.		0.312	TRDMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047024.3	NM_004412	
C10orf40	283025	hgsc.bcm.edu;bcgsc.ca	37	10	61718432	61718433	+	5'UTR	INS	-	-	T	rs373159918|rs373305799		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:61718432_61718433insT	ENST00000521074.1	-	0	1083_1084				C10orf40_ENST00000444900.1_5'UTR|C10orf40_ENST00000430888.1_5'Flank					chromosome 10 open reading frame 40																		TGCTTCATCACTTTTTTTTGCA	0.332																																					.		.											.	.	0			.						.																																			SO:0001623	5_prime_UTR_variant	283025	.			TCATCACTTTTTT	BC038741		10q21.3	2013-01-15			ENSG00000235931	ENSG00000235931			23524	other	unknown						12477932	Standard	NR_024340		Approved	AC023904.2	uc021prf.1	A4QN01	OTTHUMG00000018285	ENST00000521074.1:c.-4->A	10.37:g.61718440_61718440dupT		72	0		68	31	.	0	0	0	0	0		RNA	INS	ENST00000521074.1	37																																																																																				.		0.332	C10orf40-002	KNOWN	alternative_5_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379562.1	NR_024340	
BTRC	8945	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	10	103310572	103310573	+	Frame_Shift_Ins	INS	-	-	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr10:103310572_103310573insC	ENST00000370187.3	+	14	1891_1892	c.1773_1774insC	c.(1774-1776)cccfs	p.P592fs	BTRC_ENST00000408038.2_Frame_Shift_Ins_p.P556fs|BTRC_ENST00000393441.4_Frame_Shift_Ins_p.P551fs|BTRC_ENST00000493877.1_3'UTR	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	592			P -> H (in dbSNP:rs2270439).		anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cellular response to organic cyclic compound (GO:0071407)|G2/M transition of mitotic cell cycle (GO:0000086)|mammary gland epithelial cell proliferation (GO:0033598)|mitotic cell cycle (GO:0000278)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		CCCAAGCTGAACCCCCCCGTTC	0.431																																					p.E591fs		.											.	BTRC-659	0			c.1773_1774insC						.																																			SO:0001589	frameshift_variant	8945	exon14			AGCTGAACCCCCC	Y14153	CCDS7511.1, CCDS7512.1, CCDS73183.1	10q24.32	2013-01-10	2012-02-23		ENSG00000166167	ENSG00000166167		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	1144	protein-coding gene	gene with protein product		603482	"""beta-transducin repeat containing"""			9660940, 10331953, 18354483	Standard	NM_033637		Approved	bTrCP, betaTrCP, FBXW1A, Fwd1, beta-TrCP1, bTrCP1	uc001kta.4	Q9Y297	OTTHUMG00000018932	ENST00000370187.3:c.1780dupC	10.37:g.103310579_103310579dupC	ENSP00000359206:p.Pro592fs	149	0		198	48	NM_033637	0	0	0	0	0	B5MD49|Q5W141|Q5W142|Q9Y213	Frame_Shift_Ins	INS	ENST00000370187.3	37	CCDS7512.1																																																																																			.		0.431	BTRC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049936.1	NM_033637	
PHRF1	57661	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	11	608624	608625	+	Frame_Shift_Ins	INS	-	-	GACCGCTCCAG			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr11:608624_608625insGACCGCTCCAG	ENST00000264555.5	+	14	3296_3297	c.3168_3169insGACCGCTCCAG	c.(3169-3171)gacfs	p.-1057fs	PHRF1_ENST00000416188.2_Frame_Shift_Ins_p.-1056fs|PHRF1_ENST00000413872.2_Frame_Shift_Ins_p.-1055fs|PHRF1_ENST00000533464.1_Frame_Shift_Ins_p.-1053fs	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1						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						GGTCCTCCAGTGACCGCTCCAG	0.673																																					p.S1055fs		.											.	PHRF1-22	0			c.3165_3166insGACCGCTCCAG						.																																			SO:0001589	frameshift_variant	57661	exon14			CTCCAGTGACCGC	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.3169_3179dupGACCGCTCCAG	11.37:g.608625_608635dupGACCGCTCCAG	ENSP00000264555:p.Asp1057fs	137	0		67	10	NM_020901	0	0	0	0	0	A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Frame_Shift_Ins	INS	ENST00000264555.5	37																																																																																				.		0.673	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382133.1	NM_020901	
NRXN2	9379	hgsc.bcm.edu;bcgsc.ca	37	11	64421196	64421197	+	Splice_Site	INS	-	-	G	rs561690501	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr11:64421196_64421197insG	ENST00000377551.1	-	11	2601		c.e11-2		NRXN2_ENST00000265459.6_Splice_Site|NRXN2_ENST00000377559.3_Intron|AP001092.4_ENST00000433606.1_RNA|NRXN2_ENST00000409571.1_Splice_Site			Q9P2S2	NRX2A_HUMAN	neurexin 2						adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)	p.?(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						GCAGGCAGTCTGGGGGGGCCAT	0.589																																					.		.											.	NRXN2-232	1	Unknown(1)	large_intestine(1)	c.2390-2->C						.																																			SO:0001630	splice_region_variant	9379	exon13			GCAGTCTGGGGGG		CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.2390-2->C	11.37:g.64421203_64421203dupG		122	0		57	40	NM_015080	0	0	0	0	0	A7E2C1|Q9Y2D6	Splice_Site	INS	ENST00000377551.1	37	CCDS8077.1																																																																																			.		0.589	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	NM_015080	Intron
DGKA	1606	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	12	56347513	56347514	+	Frame_Shift_Ins	INS	-	-	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:56347513_56347514insC	ENST00000331886.5	+	24	2623_2624	c.2169_2170insC	c.(2170-2172)cccfs	p.P724fs	DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000394147.1_Frame_Shift_Ins_p.P724fs|DGKA_ENST00000551156.1_Frame_Shift_Ins_p.P724fs	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	724					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	TCATGGGCCCACCCCCCCGCTC	0.579																																					p.P723fs		.											.	DGKA-255	0			c.2169_2170insC						.																																			SO:0001589	frameshift_variant	1606	exon24			GGGCCCACCCCCC	AF064767	CCDS8896.1	12q13.3	2013-01-10	2002-08-29			ENSG00000065357	2.7.1.107	"""EF-hand domain containing"""	2849	protein-coding gene	gene with protein product		125855	"""diacylglycerol kinase, alpha (80kD)"""	DAGK, DAGK1		8180475, 7959783	Standard	NM_001345		Approved	DGK-alpha	uc001sim.3	P23743		ENST00000331886.5:c.2176dupC	12.37:g.56347520_56347520dupC	ENSP00000328405:p.Pro724fs	93	0		129	50	NM_001345	0	0	0	0	0	O75481|O75482|O75483|O95217|Q3ZE25|Q8IZ56|Q8N5Q2	Frame_Shift_Ins	INS	ENST00000331886.5	37	CCDS8896.1																																																																																			.		0.579	DGKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407291.1		
ANKRD52	283373	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	12	56638929	56638930	+	Frame_Shift_Ins	INS	-	-	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:56638929_56638930insC	ENST00000267116.7	-	22	2570_2571	c.2449_2450insG	c.(2449-2451)tcgfs	p.S817fs	ANKRD52_ENST00000548241.1_5'Flank	NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	817										endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						TTCCAGGTACGAAAACGGGCTG	0.52																																					p.S817fs		.											.	ANKRD52-70	0			c.2450_2451insG						.																																			SO:0001589	frameshift_variant	283373	exon22			AGGTACGAAAACG	AK091555	CCDS44920.1	12q13.3	2013-01-10			ENSG00000139645	ENSG00000139645		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	26614	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit C"""						Standard	NM_173595		Approved	FLJ34236, PP6-ARS-C	uc001skm.4	Q8NB46	OTTHUMG00000170329	ENST00000267116.7:c.2449_2450insG	12.37:g.56638929_56638930insC	ENSP00000267116:p.Ser817fs	154	0		204	81	NM_173595	0	0	0	0	0	A6NE79|B1Q2K2	Frame_Shift_Ins	INS	ENST00000267116.7	37	CCDS44920.1																																																																																			.		0.520	ANKRD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408539.1	NM_173595	
PPP1R12A	4659	hgsc.bcm.edu;broad.mit.edu	37	12	80201041	80201042	+	Frame_Shift_Ins	INS	-	-	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:80201041_80201042insT	ENST00000450142.2	-	12	1885_1886	c.1619_1620insA	c.(1618-1620)aatfs	p.N540fs	AC073569.1_ENST00000598624.1_Intron|PPP1R12A_ENST00000261207.5_Frame_Shift_Ins_p.N540fs|PPP1R12A_ENST00000546369.1_Frame_Shift_Ins_p.N453fs|PPP1R12A_ENST00000550107.1_Frame_Shift_Ins_p.N540fs|PPP1R12A_ENST00000437004.2_Frame_Shift_Ins_p.N540fs	NM_002480.2	NP_002471.1	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory subunit 12A	540	Ser/Thr-rich.				centrosome organization (GO:0051297)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of catalytic activity (GO:0043086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)|regulation of nucleocytoplasmic transport (GO:0046822)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|PTW/PP1 phosphatase complex (GO:0072357)	14-3-3 protein binding (GO:0071889)|enzyme inhibitor activity (GO:0004857)|phosphatase regulator activity (GO:0019208)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						TAACTGAGCTATTTTTTTTAAG	0.302																																					p.N540fs		.											.	PPP1R12A-273	0			c.1620_1621insA						.																																			SO:0001589	frameshift_variant	4659	exon13			TGAGCTATTTTTT	D87930	CCDS44947.1, CCDS44948.1, CCDS58259.1, CCDS58260.1	12q15-q21	2013-01-18	2011-10-04	2001-08-10	ENSG00000058272	ENSG00000058272		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	7618	protein-coding gene	gene with protein product	"""myosin phosphatase-targeting subunit 1"", ""myosin binding subunit"""	602021	"""protein phosphatase 1, regulatory (inhibitor) subunit 12A"""	MYPT1		9286714	Standard	NM_002480		Approved	MBS, M130	uc001syz.3	O14974	OTTHUMG00000170100	ENST00000450142.2:c.1620dupA	12.37:g.80201049_80201049dupT	ENSP00000389168:p.Asn540fs	16	0		28	12	NM_001244990	0	0	0	0	0	B4DZ09|F8VWB4|Q2NKL4|Q569H0|Q86WU3|Q8NFR6|Q9BYH0	Frame_Shift_Ins	INS	ENST00000450142.2	37	CCDS44947.1																																																																																			.		0.302	PPP1R12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407254.2	NM_002480	
CCER1	196477	broad.mit.edu	37	12	91348097	91348098	+	Frame_Shift_Ins	INS	-	-	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr12:91348097_91348098insT	ENST00000358859.2	-	1	855_856	c.422_423insA	c.(421-423)aagfs	p.K141fs	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1	Q8TC90	CCER1_HUMAN	coiled-coil glutamate-rich protein 1	141																	GGCCCCAGCGCTTCTTCCTGCC	0.703																																					p.K141fs		.											.	.	0			c.423_424insA						.																																			SO:0001589	frameshift_variant	196477	exon1			CCAGCGCTTCTTC	BC024183	CCDS9036.1	12q21.33	2012-05-30	2012-05-30	2012-05-30	ENSG00000197651	ENSG00000197651			28373	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 12"""	C12orf12		17967063	Standard	NM_152638		Approved	MGC26598	uc001tbj.3	Q8TC90	OTTHUMG00000170070	ENST00000358859.2:c.423dupA	12.37:g.91348099_91348099dupT	ENSP00000351727:p.Lys141fs	5	0		7	3	NM_152638	0	0	0	0	0	Q8TC47	Frame_Shift_Ins	INS	ENST00000358859.2	37	CCDS9036.1																																																																																			.		0.703	CCER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407142.2	NM_152638	
OR5AU1	390445	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	14	21623596	21623597	+	Frame_Shift_Ins	INS	-	-	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:21623596_21623597insA	ENST00000304418.3	-	1	625_626	c.588_589insT	c.(586-591)attgtgfs	p.V197fs		NM_001004731.1	NP_001004731.1	Q8NGC0	O5AU1_HUMAN	olfactory receptor, family 5, subfamily AU, member 1	197						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)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21	all_cancers(95;0.00238)		Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)		TAGGAGCCCACAATCAGCGAGG	0.505																																					p.V197fs		.											.	OR5AU1-68	0			c.589_590insT						.																																			SO:0001589	frameshift_variant	390445	exon1			AGCCCACAATCAG	AL157687	CCDS32042.1	14q11.2	2013-09-23			ENSG00000169327	ENSG00000169327		"""GPCR / Class A : Olfactory receptors"""	15362	protein-coding gene	gene with protein product							Standard	NM_001004731		Approved		uc010tlp.2	Q8NGC0	OTTHUMG00000170753	ENST00000304418.3:c.589dupT	14.37:g.21623598_21623598dupA	ENSP00000302057:p.Val197fs	82	0		124	53	NM_001004731	0	0	0	0	0	B2RP78|Q6IEU2|Q96R10	Frame_Shift_Ins	INS	ENST00000304418.3	37	CCDS32042.1																																																																																			.		0.505	OR5AU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410213.1		
JPH4	84502	hgsc.bcm.edu	37	14	24040435	24040436	+	Frame_Shift_Ins	INS	-	-	C	rs144738828		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr14:24040435_24040436insC	ENST00000397118.3	-	6	2406_2407	c.1504_1505insG	c.(1504-1506)gcafs	p.A502fs	JPH4_ENST00000356300.4_Frame_Shift_Ins_p.A502fs|JPH4_ENST00000544177.1_Frame_Shift_Ins_p.A167fs	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	502					calcium ion transport into cytosol (GO:0060402)|learning (GO:0007612)|neuromuscular process controlling balance (GO:0050885)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic plasticity (GO:0048167)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)		p.A502fs*12(2)|p.A502fs*8(1)		endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		CTGTGCGCCTGCCCCCCCCCAC	0.688																																					p.A502fs		.											.	JPH4-92	3	Insertion - Frameshift(2)|Deletion - Frameshift(1)	ovary(1)|lung(1)|pancreas(1)	c.1505_1506insG						.																																			SO:0001589	frameshift_variant	84502	exon5			GCGCCTGCCCCCC	AB058734	CCDS9603.1	14q11	2004-05-28	2004-05-28	2004-05-28	ENSG00000092051	ENSG00000092051			20156	protein-coding gene	gene with protein product			"""junctophilin like 1"""	JPHL1		11347906	Standard	NM_032452		Approved	KIAA1831	uc001wkr.2	Q96JJ6	OTTHUMG00000028769	ENST00000397118.3:c.1505dupG	14.37:g.24040444_24040444dupC	ENSP00000380307:p.Ala502fs	96	0		118	31	NM_001146028	0	0	0	0	0	D3DS53|Q8ND44|Q96DQ0	Frame_Shift_Ins	INS	ENST00000397118.3	37	CCDS9603.1																																																																																			.		0.688	JPH4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413853.1	NM_032452	
TUBGCP5	114791	hgsc.bcm.edu;bcgsc.ca	37	15	22855112	22855113	+	Frame_Shift_Ins	INS	-	-	A	rs564148291		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:22855112_22855113insA	ENST00000283645.4	+	13	1703_1704	c.1573_1574insA	c.(1573-1575)gaafs	p.E525fs	TUBGCP5_ENST00000453949.2_Frame_Shift_Ins_p.E525fs|TUBGCP5_ENST00000559846.1_3'UTR	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	525					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		AGAAAATGAAGAAAAAATGAGT	0.441																																					p.E525fs		.											.	TUBGCP5-91	0			c.1573_1574insA						.																																			SO:0001589	frameshift_variant	114791	exon13			AATGAAGAAAAAA	AB067486	CCDS73697.1, CCDS73698.1	15q11.1	2014-04-17			ENSG00000153575	ENSG00000275835			18600	protein-coding gene	gene with protein product	"""gamma-tubulin complex component GCP5"""	608147				11694571	Standard	NM_052903		Approved	GCP5, KIAA1899	uc001yur.4	Q96RT8	OTTHUMG00000188371	ENST00000283645.4:c.1579dupA	15.37:g.22855118_22855118dupA	ENSP00000283645:p.Glu525fs	298	2		361	156	NM_052903	0	0	0	0	0	E9PB12|Q6IQ52|Q96PY8	Frame_Shift_Ins	INS	ENST00000283645.4	37	CCDS10008.1																																																																																			.		0.441	TUBGCP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250998.2	NM_052903	
EIF2AK4	440275	hgsc.bcm.edu;bcgsc.ca	37	15	40326638	40326639	+	Frame_Shift_Ins	INS	-	-	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:40326638_40326639insA	ENST00000263791.5	+	38	4928_4929	c.4885_4886insA	c.(4885-4887)gaafs	p.E1629fs	EIF2AK4_ENST00000382727.2_Frame_Shift_Ins_p.E1601fs|SRP14_ENST00000558527.1_5'Flank	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	1629					cellular response to starvation (GO:0009267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of translation (GO:0017148)|protein phosphorylation (GO:0006468)|regulation of translational initiation (GO:0006446)|regulation of translational initiation in response to stress (GO:0043558)	cytosolic ribosome (GO:0022626)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		CATCAAAGTAGAAAAAAAGTAA	0.396																																					p.E1629fs		.											.	EIF2AK4-757	0			c.4885_4886insA						.																																			SO:0001589	frameshift_variant	440275	exon38			AAAGTAGAAAAAA	AB037759	CCDS42016.1	15q13.3	2008-08-18				ENSG00000128829			19687	protein-coding gene	gene with protein product		609280				10504407	Standard	XM_005254392		Approved	GCN2, KIAA1338	uc001zkm.1	Q9P2K8		ENST00000263791.5:c.4892dupA	15.37:g.40326645_40326645dupA	ENSP00000263791:p.Glu1629fs	120	1		135	42	NM_001013703	0	0	0	0	0	C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Frame_Shift_Ins	INS	ENST00000263791.5	37	CCDS42016.1																																																																																			.		0.396	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418395.1		
VPS18	57617	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	15	41195414	41195415	+	Frame_Shift_Ins	INS	-	-	AG			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:41195414_41195415insAG	ENST00000220509.5	+	5	3136_3137	c.2797_2798insAG	c.(2797-2799)aagfs	p.K933fs		NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	933					endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|vesicle-mediated transport (GO:0016192)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		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;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GGAACAGCTCAAGGCTGACCTG	0.678																																					p.K933fs		.											.	VPS18-155	0			c.2797_2798insAG						.																																			SO:0001589	frameshift_variant	57617	exon5			CAGCTCAAGGCTG	AF308802	CCDS10069.1	15q14-q15	2006-12-19	2006-12-19		ENSG00000104142	ENSG00000104142			15972	protein-coding gene	gene with protein product		608551	"""vacuolar protein sorting protein 18"""			11250079, 16203730	Standard	NM_020857		Approved	KIAA1475, PEP3	uc001zne.3	Q9P253	OTTHUMG00000130135	ENST00000220509.5:c.2798_2799dupAG	15.37:g.41195415_41195416dupAG	ENSP00000220509:p.Lys933fs	32	0		62	20	NM_020857	0	0	0	0	0	Q8TCG0|Q96DI3|Q9H268	Frame_Shift_Ins	INS	ENST00000220509.5	37	CCDS10069.1																																																																																			.		0.678	VPS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252443.2		
SLC24A1	9187	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	15	65917184	65917185	+	Frame_Shift_Ins	INS	-	-	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:65917184_65917185insC	ENST00000261892.6	+	2	1053_1054	c.766_767insC	c.(766-768)accfs	p.T256fs	SLC24A1_ENST00000546330.1_Frame_Shift_Ins_p.T256fs|SLC24A1_ENST00000399033.4_Frame_Shift_Ins_p.T256fs|SLC24A1_ENST00000537259.1_Frame_Shift_Ins_p.T256fs|SLC24A1_ENST00000339868.6_Frame_Shift_Ins_p.T256fs|SLC24A1_ENST00000544319.2_Frame_Shift_Ins_p.T256fs	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	256					calcium ion transport (GO:0006816)|ion transport (GO:0006811)|phototransduction, visible light (GO:0007603)|response to light intensity (GO:0009642)|rhodopsin mediated signaling pathway (GO:0016056)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						GTTTGATAGCACCCCAACTTTT	0.436																																					p.T256fs		.											.	.	0			c.766_767insC						.																																			SO:0001589	frameshift_variant	9187	exon2			GATAGCACCCCAA	AF062922	CCDS45284.1, CCDS73742.1, CCDS73743.1, CCDS73744.1	15q22.31	2014-01-28			ENSG00000074621	ENSG00000074621		"""Solute carriers"""	10975	protein-coding gene	gene with protein product		603617				9856482	Standard	NM_004727		Approved	NCKX1, NCKX, RODX, KIAA0702, HsT17412, CSNB1D	uc010ujf.2	O60721	OTTHUMG00000167960	ENST00000261892.6:c.770dupC	15.37:g.65917188_65917188dupC	ENSP00000261892:p.Thr256fs	158	0		181	52	NM_004727	0	0	0	0	0	O43485|O75184|Q17RM9	Frame_Shift_Ins	INS	ENST00000261892.6	37	CCDS45284.1																																																																																			.		0.436	SLC24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397304.1	NM_004727	
AKAP13	11214	hgsc.bcm.edu;bcgsc.ca	37	15	86287016	86287017	+	Frame_Shift_Ins	INS	-	-	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr15:86287016_86287017insA	ENST00000394518.2	+	36	8447_8448	c.8352_8353insA	c.(8353-8355)aaafs	p.K2785fs	AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000394510.2_Frame_Shift_Ins_p.K1030fs|RP11-158M2.3_ENST00000558375.1_RNA|AKAP13_ENST00000361243.2_Frame_Shift_Ins_p.K2789fs	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2785	Interaction with ESR1.|Poly-Lys.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						AAAAGAAGGAGAAAAAAAAGAA	0.545																																					p.E2788fs	Melanoma(94;603 1453 3280 32295 32951)	.											.	AKAP13-258	0			c.8364_8365insA						.																																			SO:0001589	frameshift_variant	11214	exon36			GAAGGAGAAAAAA	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.8360dupA	15.37:g.86287024_86287024dupA	ENSP00000378026:p.Lys2785fs	57	0		82	32	NM_006738	0	0	0	0	0	Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Frame_Shift_Ins	INS	ENST00000394518.2	37	CCDS32319.1																																																																																			.		0.545	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200	
MSLN	10232	hgsc.bcm.edu;bcgsc.ca	37	16	816959	816960	+	Frame_Shift_Ins	INS	-	-	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:816959_816960insT	ENST00000382862.3	+	14	1567_1568	c.1472_1473insT	c.(1471-1476)gctttcfs	p.AF491fs	MSLN_ENST00000563941.1_Frame_Shift_Ins_p.AF483fs|MSLN_ENST00000566549.1_Frame_Shift_Ins_p.AF483fs|MSLN_ENST00000545450.2_Frame_Shift_Ins_p.AF483fs	NM_013404.4	NP_037536.2	Q13421	MSLN_HUMAN	mesothelin	491					cell adhesion (GO:0007155)|pancreas development (GO:0031016)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				GCCCGCCTTGCTTTCCAGAACA	0.629																																					p.A491fs		.											.	MSLN-91	0			c.1472_1473insT						.																																			SO:0001589	frameshift_variant	10232	exon14			GCCTTGCTTTCCA	U40434	CCDS32356.1, CCDS45370.1	16p13.3	2008-04-16			ENSG00000102854	ENSG00000102854			7371	protein-coding gene	gene with protein product		601051				7665620, 8552591	Standard	NM_005823		Approved	CAK1, MPF	uc002cjw.2	Q13421	OTTHUMG00000047992	ENST00000382862.3:c.1475dupT	16.37:g.816962_816962dupT	ENSP00000372313:p.Ala491fs	212	1		269	125	NM_013404	0	0	0	0	0	D3DU65|Q14859|Q4VQD5|Q96GR6|Q96KJ5|Q9BR17|Q9BTR2|Q9UCB2|Q9UK57	Frame_Shift_Ins	INS	ENST00000382862.3	37	CCDS32356.1																																																																																			.		0.629	MSLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109253.2		
KNOP1	400506	hgsc.bcm.edu	37	16	19725705	19725706	+	Frame_Shift_Ins	INS	-	-	T	rs569337210		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:19725705_19725706insT	ENST00000219837.7	-	2	730_731	c.652_653insA	c.(652-654)atcfs	p.I218fs	IQCK_ENST00000320394.6_5'Flank|KNOP1_ENST00000568230.1_5'Flank|AC002550.5_ENST00000565916.1_RNA	NM_001012991.2	NP_001013009.2	Q1ED39	KNOP1_HUMAN	lysine-rich nucleolar protein 1	218	Lys-rich.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.I218fs*41(1)									CTCCTGGTGGATTTTTTTTTTC	0.535																																					p.I218fs		.											.	C16orf88-68	1	Deletion - Frameshift(1)	lung(1)	c.653_654insA						.																																			SO:0001589	frameshift_variant	400506	exon2			TGGTGGATTTTTT	BC047010	CCDS42127.1	16p12.3	2013-03-12	2013-03-12	2013-03-12	ENSG00000103550	ENSG00000103550			34404	protein-coding gene	gene with protein product	"""family with sequence similarity 191, member A"", ""testis-specific gene 118"""		"""chromosome 16 open reading frame 88"""	C16orf88			Standard	NM_001012991		Approved	101F10.1, FAM191A, TSG118	uc002dgq.3	Q1ED39		ENST00000219837.7:c.653dupA	16.37:g.19725715_19725715dupT	ENSP00000219837:p.Ile218fs	24	0		51	15	NM_001012991	0	0	0	0	0	O43328|Q5FWF3	Frame_Shift_Ins	INS	ENST00000219837.7	37	CCDS42127.1																																																																																			.		0.535	KNOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435993.2	NM_001012991	
SALL1	6299	hgsc.bcm.edu	37	16	51175655	51175656	+	In_Frame_Ins	INS	-	-	GCTGCT	rs113614842|rs199760974|rs372299573	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:51175655_51175656insGCTGCT	ENST00000251020.4	-	2	510_511	c.477_478insAGCAGC	c.(475-480)agcggc>agcAGCAGCggc	p.158_159insSS	SALL1_ENST00000440970.1_In_Frame_Ins_p.61_62insSS|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000562674.1_5'Flank|SALL1_ENST00000566102.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	158	Poly-Ser.		S -> G (in dbSNP:rs13336129). {ECO:0000269|PubMed:9973281}.		adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			ccgccgccgccgctgctgctgc	0.629																																					p.G160delinsSSG	GBM(103;1352 1446 1855 4775 8890)	.											.	SALL1-98	0			c.478_479insAGCAGC						.																																			SO:0001652	inframe_insertion	6299	exon2			CGCCGCCGCTGCT	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.472_477dupAGCAGC	16.37:g.51175656_51175661dupGCTGCT	ENSP00000251020:p.Ser157_Ser158dup	80	0		165	0	NM_002968	0	0	0	0	0	Q99881|Q9NSC3|Q9P1R0	In_Frame_Ins	INS	ENST00000251020.4	37	CCDS10747.1																																																																																			-|0.500;GCC|0.250;GCT|0.250		0.629	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968	
CLPP	8192	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	19	6361605	6361606	+	Frame_Shift_Ins	INS	-	-	A	rs556537852		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:6361605_6361606insA	ENST00000245816.4	+	1	143_144	c.20_21insA	c.(19-24)gtagggfs	p.G8fs	CLPP_ENST00000596605.1_5'Flank|CTB-180A7.3_ENST00000595644.1_RNA|CLPP_ENST00000596149.1_5'Flank	NM_006012.2	NP_006003.1	Q16740	CLPP_HUMAN	caseinolytic mitochondrial matrix peptidase proteolytic subunit	8					protein homooligomerization (GO:0051260)|proteolysis involved in cellular protein catabolic process (GO:0051603)	endopeptidase Clp complex (GO:0009368)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(2)|ovary(2)	6						GGAATATTGGTAGGGGGGGCCC	0.713																																					p.V7fs		.											.	CLPP-91	0			c.20_21insA						.																																			SO:0001589	frameshift_variant	8192	exon1			TATTGGTAGGGGG	Z50853	CCDS12162.1	19p13.3	2013-09-12	2013-09-12		ENSG00000125656	ENSG00000125656		"""ATPases / AAA-type"""	2084	protein-coding gene	gene with protein product	"""ATP-dependent protease ClpAP (E. coli), proteolytic subunit, human"""	601119	"""ClpP (caseinolytic protease, ATP-dependent, proteolytic subunit, E. coli) homolog"", ""ClpP caseinolytic protease, ATP-dependent, proteolytic subunit homolog (E. coli)"", ""ClpP caseinolytic peptidase, ATP-dependent, proteolytic subunit homolog (E. coli)"""			8543061, 23360988	Standard	NM_006012		Approved		uc002mem.1	Q16740	OTTHUMG00000180779	ENST00000245816.4:c.21dupA	19.37:g.6361606_6361606dupA	ENSP00000245816:p.Gly8fs	21	0		46	23	NM_006012	0	0	0	0	0	B2R4W5	Frame_Shift_Ins	INS	ENST00000245816.4	37	CCDS12162.1																																																																																			.		0.713	CLPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452984.1	NM_006012	
DHDH	27294	bcgsc.ca	37	19	49442849	49442850	+	Frame_Shift_Ins	INS	-	-	G	rs3830420|rs397960489|rs78637763	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:49442849_49442850insG	ENST00000221403.2	+	4	550_551	c.510_511insG	c.(511-513)gggfs	p.G171fs	DHDH_ENST00000522614.1_Frame_Shift_Ins_p.G171fs|DHDH_ENST00000523250.1_Intron	NM_014475.3	NP_055290.1	Q9UQ10	DHDH_HUMAN	dihydrodiol dehydrogenase (dimeric)	171					carbohydrate metabolic process (GO:0005975)|D-xylose catabolic process (GO:0042843)		D-xylose 1-dehydrogenase (NADP+) activity (GO:0047837)|electron carrier activity (GO:0009055)|NAD(P)+ transhydrogenase activity (GO:0008746)|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity (GO:0047115)			central_nervous_system(1)|large_intestine(3)|lung(3)|ovary(1)|soft_tissue(1)	9		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000158)|all cancers(93;0.000258)|Epithelial(262;0.0173)|GBM - Glioblastoma multiforme(486;0.0179)		GGGCCCAGGCTGGGGGGGCCCT	0.604													GGGGGGG|GGGGGGG|GGGGGGGG|insertion	1276	0.254792	0.0575	0.232	5008	,	,		18577	0.5417		0.1759	False		,,,				2504	0.3231				p.A170fs		.											.	DHDH-90	0			c.510_511insG						.																																			SO:0001589	frameshift_variant	27294	exon4			CCAGGCTGGGGGG	AB021933	CCDS12741.1	19q13.3	2008-02-05			ENSG00000104808	ENSG00000104808	1.3.1.20		17887	protein-coding gene	gene with protein product		606377				10477285	Standard	NM_014475		Approved	HUM2DD	uc002ple.1	Q9UQ10	OTTHUMG00000165029	ENST00000221403.2:c.517dupG	19.37:g.49442856_49442856dupG	ENSP00000221403:p.Gly171fs	42	0		48	15	NM_014475	0	0	0	0	0		Frame_Shift_Ins	INS	ENST00000221403.2	37	CCDS12741.1																																																																																			-|0.754;C|0.246		0.604	DHDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381477.1	NM_014475	
SCAF1	58506	broad.mit.edu	37	19	50158041	50158042	+	Frame_Shift_Ins	INS	-	-	C	rs149487378		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:50158041_50158042insC	ENST00000360565.3	+	9	3656_3657	c.3532_3533insC	c.(3532-3534)accfs	p.T1178fs		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	1178					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		CTGCGGTTCGACCCCCCCCACC	0.693																																					p.T1178fs		.											.	SCAF1-68	0			c.3532_3533insC						.			36,4184		1,34,2075						4.2	0.8			26	32,8138		0,32,4053	no	frameshift	SCAF1	NM_021228.2		1,66,6128	A1A1,A1R,RR		0.3917,0.8531,0.5488				68,12322				SO:0001589	frameshift_variant	58506	exon9			GGTTCGACCCCCC	AK024444	CCDS33074.1	19q13.3-q13.4	2011-01-10			ENSG00000126461	ENSG00000126461			30403	protein-coding gene	gene with protein product						11461075	Standard	NM_021228		Approved	SR-A1, FLJ00034	uc002poq.3	Q9H7N4		ENST00000360565.3:c.3540dupC	19.37:g.50158049_50158049dupC	ENSP00000353769:p.Thr1178fs	11	0		23	7	NM_021228	0	0	0	0	0	Q7Z5V7|Q8WVA1|Q9NR59	Frame_Shift_Ins	INS	ENST00000360565.3	37	CCDS33074.1																																																																																			.		0.693	SCAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465764.1	NM_021228	
MAP4K3	8491	hgsc.bcm.edu;bcgsc.ca	37	2	39487811	39487812	+	Frame_Shift_Ins	INS	-	-	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:39487811_39487812insA	ENST00000263881.3	-	29	2567_2568	c.2243_2244insT	c.(2242-2244)ttcfs	p.F748fs	MAP4K3_ENST00000536018.1_Frame_Shift_Ins_p.F301fs|MAP4K3_ENST00000437545.1_Frame_Shift_Ins_p.F664fs|MAP4K3_ENST00000341681.5_Frame_Shift_Ins_p.F727fs	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	748	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)		ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				CCACTTGGTTGAAGTCTCTACC	0.376																																					p.F748fs		.											.	MAP4K3-550	0			c.2244_2245insT						.																																			SO:0001589	frameshift_variant	8491	exon29			TTGGTTGAAGTCT	AF000145	CCDS1803.1, CCDS58707.1	2p22.3	2011-06-09			ENSG00000011566	ENSG00000011566		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6865	protein-coding gene	gene with protein product		604921		RAB8IPL1		9275185	Standard	NM_003618		Approved	GLK, MAPKKKK3	uc002rro.4	Q8IVH8	OTTHUMG00000102127	ENST00000263881.3:c.2244dupT	2.37:g.39487813_39487813dupA	ENSP00000263881:p.Phe748fs	86	1		102	43	NM_003618	0	0	0	0	0	Q6IQ39|Q8IVH7|Q9UDM5|Q9Y6R5	Frame_Shift_Ins	INS	ENST00000263881.3	37	CCDS1803.1																																																																																			.		0.376	MAP4K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219966.2	NM_003618	
RBM43	375287	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	2	152107742	152107743	+	Frame_Shift_Ins	INS	-	-	TC			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:152107742_152107743insTC	ENST00000331426.5	-	4	902_903	c.751_752insGA	c.(751-753)aaafs	p.K251fs		NM_198557.2	NP_940959.1	Q6ZSC3	RBM43_HUMAN	RNA binding motif protein 43	251							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.131)		ACCATCCACTTTCTCCTGACTC	0.376																																					p.K251fs		.											.	RBM43-90	0			c.752_753insGA						.																																			SO:0001589	frameshift_variant	375287	exon4			TCCACTTTCTCCT	AK127552	CCDS2191.1	2q23.3	2007-01-30	2007-01-30	2007-01-30	ENSG00000184898	ENSG00000184898		"""RNA binding motif (RRM) containing"""	24790	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 38"""	C2orf38			Standard	NM_198557		Approved	FLJ45645	uc002txh.3	Q6ZSC3	OTTHUMG00000131866	ENST00000331426.5:c.750_751dupGA	2.37:g.152107745_152107746dupTC	ENSP00000331211:p.Lys251fs	37	0		42	16	NM_198557	0	0	0	0	0	B2RMT5	Frame_Shift_Ins	INS	ENST00000331426.5	37	CCDS2191.1																																																																																			.		0.376	RBM43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254816.2	NM_198557	
SCRN3	79634	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	2	175264719	175264720	+	Frame_Shift_Ins	INS	-	-	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:175264719_175264720insG	ENST00000272732.6	+	3	311_312	c.229_230insG	c.(229-231)tggfs	p.W77fs	SCRN3_ENST00000409673.3_Frame_Shift_Ins_p.W70fs	NM_001193528.1|NM_024583.4	NP_001180457.1|NP_078859.2	Q0VDG4	SCRN3_HUMAN	secernin 3	77							dipeptidase activity (GO:0016805)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3)	13			OV - Ovarian serous cystadenocarcinoma(117;0.229)			AGCGTGGTTGTGGGGGGCAGAA	0.406																																					p.W77fs		.											.	SCRN3-91	0			c.229_230insG						.																																			SO:0001589	frameshift_variant	79634	exon3			TGGTTGTGGGGGG	AF279776	CCDS2258.1, CCDS54420.1	2q31	2008-02-05			ENSG00000144306	ENSG00000144306			30382	protein-coding gene	gene with protein product		614967				12221138	Standard	NM_024583		Approved	FLJ23142	uc002uiq.3	Q0VDG4	OTTHUMG00000132332	ENST00000272732.6:c.235dupG	2.37:g.175264725_175264725dupG	ENSP00000272732:p.Trp77fs	70	0		80	33	NM_024583	0	0	0	0	0	B4DI11|C9JPC1|D3DPE0|Q7L1C5|Q9H5R5	Frame_Shift_Ins	INS	ENST00000272732.6	37	CCDS2258.1																																																																																			.		0.406	SCRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255451.2	NM_024583	
TTN	7273	hgsc.bcm.edu;bcgsc.ca	37	2	179434526	179434527	+	Frame_Shift_Ins	INS	-	-	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:179434526_179434527insT	ENST00000591111.1	-	276	71633_71634	c.71409_71410insA	c.(71407-71412)aaatgtfs	p.C23804fs	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Ins_p.C16505fs|TTN_ENST00000460472.2_Frame_Shift_Ins_p.C16380fs|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Ins_p.C22877fs|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Frame_Shift_Ins_p.C25445fs|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Ins_p.C16572fs			Q8WZ42	TITIN_HUMAN	titin	23804	Fibronectin type-III 73. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			CTCACATCACATTTTTCAACAA	0.371																																					p.C25445fs		.											.	TTN-636	0			c.76333_76334insA						.																																			SO:0001589	frameshift_variant	7273	exon326			CATCACATTTTTC	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.71410dupA	2.37:g.179434531_179434531dupT	ENSP00000465570:p.Cys23804fs	56	1		55	28	NM_001267550	0	0	0	0	0	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	Frame_Shift_Ins	INS	ENST00000591111.1	37																																																																																				.		0.371	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
NBEAL1	65065	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	2	204032074	204032075	+	Frame_Shift_Ins	INS	-	-	A	rs530940764		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:204032074_204032075insA	ENST00000449802.1	+	37	6234_6235	c.5901_5902insA	c.(5902-5904)aaafs	p.K1968fs		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1968										NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TTCTCAATTTCAAAAAAGAGGT	0.366																																					p.F1967fs		.											.	NBEAL1-92	0			c.5901_5902insA						.																																			SO:0001589	frameshift_variant	65065	exon37			CAATTTCAAAAAA	AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"""WD repeat domain containing"""	20681	protein-coding gene	gene with protein product		609816	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"""	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.5907dupA	2.37:g.204032080_204032080dupA	ENSP00000399903:p.Lys1968fs	44	0		40	14	NM_001114132	0	0	0	0	0	A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Frame_Shift_Ins	INS	ENST00000449802.1	37	CCDS46495.1																																																																																			.		0.366	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4		
PARD3B	117583	hgsc.bcm.edu;bcgsc.ca	37	2	206166297	206166298	+	Frame_Shift_Ins	INS	-	-	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:206166297_206166298insA	ENST00000406610.2	+	18	2709_2710	c.2502_2503insA	c.(2503-2505)aaafs	p.K835fs	PARD3B_ENST00000349953.3_Frame_Shift_Ins_p.K835fs|PARD3B_ENST00000462231.1_Frame_Shift_Ins_p.K835fs|PARD3B_ENST00000358768.2_Frame_Shift_Ins_p.K773fs|PARD3B_ENST00000351153.1_Frame_Shift_Ins_p.K766fs	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	835	Lys-rich.				cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)		p.T776fs*13(1)		breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		CCAGGAAAGTCAAAAAAACgaa	0.426																																					p.V834fs		.											.	PARD3B-140	1	Deletion - Frameshift(1)	large_intestine(1)	c.2502_2503insA						.																																			SO:0001589	frameshift_variant	117583	exon18			GAAAGTCAAAAAA	AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19"", ""par-3 partitioning defective 3 homolog B (C. elegans)"""	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.2509dupA	2.37:g.206166304_206166304dupA	ENSP00000385848:p.Lys835fs	186	0		205	81	NM_205863	0	0	0	0	0	E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Frame_Shift_Ins	INS	ENST00000406610.2	37																																																																																				.		0.426	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000335992.1	NM_057177	
CCDC108	255101	hgsc.bcm.edu;bcgsc.ca	37	2	219895931	219895932	+	Frame_Shift_Ins	INS	-	-	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:219895931_219895932insT	ENST00000341552.5	-	8	994_995	c.911_912insA	c.(910-912)aagfs	p.K304fs	CCDC108_ENST00000453220.1_Frame_Shift_Ins_p.K304fs|CCDC108_ENST00000410037.1_Frame_Shift_Ins_p.K239fs|CCDC108_ENST00000441968.1_Frame_Shift_Ins_p.K304fs|CCDC108_ENST00000409865.3_Frame_Shift_Ins_p.K293fs	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	304						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAAAGGTCACCTTGATCTGAGA	0.658																																					p.K304fs		.											.	CCDC108-94	0			c.912_913insA						.																																			SO:0001589	frameshift_variant	255101	exon8			GGTCACCTTGATC	NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.912dupA	2.37:g.219895933_219895933dupT	ENSP00000340776:p.Lys304fs	149	2		218	103	NM_194302	0	0	0	0	0	A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Frame_Shift_Ins	INS	ENST00000341552.5	37	CCDS2430.2																																																																																			.		0.658	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302	
COPS8	10920	hgsc.bcm.edu;bcgsc.ca	37	2	238002796	238002797	+	Frame_Shift_Ins	INS	-	-	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr2:238002796_238002797insT	ENST00000354371.2	+	5	1048_1049	c.395_396insT	c.(394-399)gattttfs	p.DF132fs	COPS8_ENST00000392008.2_Frame_Shift_Ins_p.DF83fs|COPS8_ENST00000409334.1_Intron|COPS8_ENST00000409629.1_Frame_Shift_Ins_p.DF132fs	NM_006710.4	NP_006701.1	Q99627	CSN8_HUMAN	COP9 signalosome subunit 8	132	PCI.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|cullin deneddylation (GO:0010388)|negative regulation of cell proliferation (GO:0008285)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	4		Breast(86;0.000162)|Renal(207;0.00339)|all_hematologic(139;0.0123)|Ovarian(221;0.0694)|Acute lymphoblastic leukemia(138;0.0775)|all_lung(227;0.169)|all_neural(83;0.211)		Epithelial(121;7.41e-23)|OV - Ovarian serous cystadenocarcinoma(60;5.42e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000175)|Lung(119;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0258)		ATCGCCGATGATTTTGCAGCCT	0.436																																					p.D132fs		.											.	COPS8-228	0			c.395_396insT						.																																			SO:0001589	frameshift_variant	10920	exon5			CCGATGATTTTGC		CCDS2517.1, CCDS42835.1	2q37.3	2013-03-14	2013-03-14		ENSG00000198612	ENSG00000198612			24335	protein-coding gene	gene with protein product			"""COP9 constitutive photomorphogenic homolog subunit 8 (Arabidopsis)"""			7634324, 12732143	Standard	NM_006710		Approved	COP9, CSN8, MGC1297, SGN8	uc002vwh.3	Q99627	OTTHUMG00000133297	ENST00000354371.2:c.399dupT	2.37:g.238002800_238002800dupT	ENSP00000346340:p.Asp132fs	101	1		117	48	NM_006710	0	0	0	0	0	A8K1H6|Q53QS9	Frame_Shift_Ins	INS	ENST00000354371.2	37	CCDS2517.1																																																																																			.		0.436	COPS8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257082.3	NM_006710	
DLGAP4	22839	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	20	35128865	35128866	+	In_Frame_Ins	INS	-	-	CTA			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr20:35128865_35128866insCTA	ENST00000373907.2	+	9	2562_2563	c.2363_2364insCTA	c.(2362-2367)tccagc>tcCTAcagc	p.788_789SS>SYS	DLGAP4_ENST00000373913.3_In_Frame_Ins_p.785_786SS>SYS|DLGAP4_ENST00000340491.4_In_Frame_Ins_p.249_250SS>SYS|DLGAP4_ENST00000401952.2_In_Frame_Ins_p.785_786SS>SYS|DLGAP4_ENST00000339266.5_In_Frame_Ins_p.788_789SS>SYS|DLGAP4_ENST00000475894.1_3'UTR			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	788					cell-cell signaling (GO:0007267)	membrane (GO:0016020)|synapse (GO:0045202)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				GAGACCTCCTCCAGCTCCCCAG	0.649																																					p.S785delinsSY		.											.	DLGAP4-94	0			c.2354_2355insCTA						.																																			SO:0001652	inframe_insertion	22839	exon9			CCTCCTCCAGCTC	AF088030	CCDS13274.1, CCDS13275.1	20q11.23	2010-02-05			ENSG00000080845	ENSG00000080845			24476	protein-coding gene	gene with protein product						9115257	Standard	XM_005260329		Approved	DAP4, KIAA0964, SAPAP4	uc010zvp.2	Q9Y2H0	OTTHUMG00000032390	Exception_encountered	20.37:g.35128865_35128866insCTA	ENSP00000363014:p.Ser788_Ser789insTyr	82	0		218	40	NM_014902	0	0	0	0	0	E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	In_Frame_Ins	INS	ENST00000373907.2	37																																																																																				.		0.649	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000079025.2	NM_014902	
COL18A1	80781	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	21	46917558	46917559	+	Frame_Shift_Ins	INS	-	-	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr21:46917558_46917559insC	ENST00000359759.4	+	31	3932_3933	c.3911_3912insC	c.(3910-3915)ggccccfs	p.GP1304fs	COL18A1_ENST00000459895.1_3'UTR|COL18A1_ENST00000400337.2_Frame_Shift_Ins_p.GP889fs|COL18A1_ENST00000355480.5_Frame_Shift_Ins_p.GP1069fs			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1304	Triple-helical region 7 (COL7).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)	p.G1069A(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GGAGAAGTGGGCCCCCCCGGAC	0.639																																					p.G1069fs		.											.	COL18A1-90	1	Substitution - Missense(1)	endometrium(1)	c.3206_3207insC						.																																			SO:0001589	frameshift_variant	80781	exon31			AAGTGGGCCCCCC		CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"""Collagens"""	2195	protein-coding gene	gene with protein product	"""endostatin"""	120328	"""Knobloch syndrome, type 1"""	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.3918dupC	21.37:g.46917565_46917565dupC	ENSP00000352798:p.Gly1304fs	82	0		113	37	NM_030582	0	0	0	0	0	A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Frame_Shift_Ins	INS	ENST00000359759.4	37																																																																																				.		0.639	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1		
BPIFC	254240	hgsc.bcm.edu	37	22	32831828	32831829	+	Frame_Shift_Ins	INS	-	-	G	rs199560755	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr22:32831828_32831829insG	ENST00000397452.1	-	9	896_897	c.786_787insC	c.(784-789)cccttcfs	p.F263fs	BPIFC_ENST00000432451.2_Frame_Shift_Ins_p.F77fs|BPIFC_ENST00000534972.1_5'UTR|BPIFC_ENST00000300399.3_Frame_Shift_Ins_p.F263fs			Q8NFQ6	BPIFC_HUMAN	BPI fold containing family C	263						extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)|phospholipid binding (GO:0005543)										ACTGGTGAGAAGGGGGGGTCGG	0.46														20	0.00399361	0.0008	0.0	5008	,	,		19618	0.0179		0.0	False		,,,				2504	0.001				p.F263fs		.											.	.	0			c.787_788insC						.			4,4260		0,4,2128						5.7	0.2			81	0,8254		0,0,4127	no	frameshift	BPIFC	NM_174932.2		0,4,6255	A1A1,A1R,RR		0.0,0.0938,0.032				4,12514				SO:0001589	frameshift_variant	254240	exon8			GTGAGAAGGGGGG	AF465766	CCDS13906.1	22q12.3	2011-08-04	2011-08-01	2011-08-01	ENSG00000184459	ENSG00000184459		"""BPI fold containing"""	16503	protein-coding gene	gene with protein product		614109	"""bactericidal/permeability-increasing protein-like 2"""	BPIL2			Standard	NM_174932		Approved	dJ149A16.7	uc003amn.2	Q8NFQ6	OTTHUMG00000058273	ENST00000397452.1:c.787dupC	22.37:g.32831835_32831835dupG	ENSP00000380594:p.Phe263fs	59	2		81	15	NM_174932	0	0	0	0	0	A2RRF1	Frame_Shift_Ins	INS	ENST00000397452.1	37	CCDS13906.1																																																																																			-|0.995;G|0.005		0.460	BPIFC-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129029.2	NM_174932	
MEI1	150365	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	22	42099452	42099453	+	Frame_Shift_Ins	INS	-	-	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr22:42099452_42099453insT	ENST00000401548.3	+	2	332_333	c.292_293insT	c.(292-294)cttfs	p.L98fs	MEI1_ENST00000400107.1_5'UTR|MEI1_ENST00000540833.1_5'UTR|MEI1_ENST00000300398.4_5'UTR	NM_152513.3	NP_689726.3			meiosis inhibitor 1											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CATAAGTGTGCTTTTTGGTAAG	0.421																																					p.L98fs		.											.	MEI1-70	0			c.292_293insT						.																																			SO:0001589	frameshift_variant	150365	exon2			AGTGTGCTTTTTG	AK092934	CCDS46718.1	22q13.2	2013-10-11			ENSG00000167077	ENSG00000167077			28613	protein-coding gene	gene with protein product	"""spermatogenesis associated 38"""	608797				16683055	Standard	XM_006724154		Approved	MGC40042, SPATA38	uc003baz.1	Q5TIA1	OTTHUMG00000030083	ENST00000401548.3:c.297dupT	22.37:g.42099457_42099457dupT	ENSP00000384115:p.Leu98fs	86	0		111	44	NM_152513	0	0	0	0	0		Frame_Shift_Ins	INS	ENST00000401548.3	37	CCDS46718.1																																																																																			.		0.421	MEI1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000074937.3	NM_152513	
ANKRD28	23243	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	3	15756165	15756166	+	Splice_Site	INS	-	-	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:15756165_15756166insG	ENST00000399451.2	-	9	1274		c.e9-2		ANKRD28_ENST00000383777.1_Splice_Site|ANKRD28_ENST00000497037.1_Splice_Site	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28							nucleus (GO:0005634)				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						ATCTTTACTCTGGGGGGGGAAG	0.361																																					.		.											.	ANKRD28-135	0			c.445-2->C						.																																			SO:0001630	splice_region_variant	23243	exon10			TTACTCTGGGGGG	AY367056	CCDS46769.1, CCDS74908.1	3p25.1	2013-01-10			ENSG00000206560	ENSG00000206560		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	29024	protein-coding gene	gene with protein product	"""phosphatase interactor targeting K protein"", ""protein phosphatase 6 ankyrin repeat subunit A"", ""protein phosphatase 1, regulatory subunit 65"""	611122				9205841	Standard	NM_015199		Approved	KIAA0379, PITK, PP6-ARS-A, PPP1R65	uc003caj.1	O15084	OTTHUMG00000155379	ENST00000399451.2:c.907-2->C	3.37:g.15756173_15756173dupG		56	0		17	13	NM_001195098	0	0	0	0	0	B4DES5|Q1WWL4|Q29RW6|Q3B857|Q6ULS0|Q6ZT57	Splice_Site	INS	ENST00000399451.2	37	CCDS46769.1																																																																																			.		0.361	ANKRD28-003	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339758.1	NM_015199	Intron
DUSP7	1849	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	3	52088242	52088243	+	Frame_Shift_Ins	INS	-	-	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:52088242_52088243insT	ENST00000495880.1	-	2	848_849	c.665_666insA	c.(664-666)gacfs	p.D222fs	DUSP7_ENST00000296483.6_Frame_Shift_Ins_p.D171fs			Q16829	DUS7_HUMAN	dual specificity phosphatase 7	222	Ser-rich.				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)			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)		GCAGCTCTCGGTCCGACTCGCC	0.668																																					p.D222fs		.											.	DUSP7-659	0			c.666_667insA						.																																			SO:0001589	frameshift_variant	1849	exon2			CTCTCGGTCCGAC	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.666dupA	3.37:g.52088243_52088243dupT	ENSP00000417183:p.Asp222fs	153	0		142	105	NM_001947	0	0	0	0	0	Q2M3J7|Q8NFJ0	Frame_Shift_Ins	INS	ENST00000495880.1	37	CCDS33766.2																																																																																			.		0.668	DUSP7-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000349697.1	NM_001947	
BAP1	8314	hgsc.bcm.edu;bcgsc.ca	37	3	52437564	52437565	+	Frame_Shift_Ins	INS	-	-	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:52437564_52437565insA	ENST00000460680.1	-	13	2067_2068	c.1596_1597insT	c.(1594-1599)tttggafs	p.G533fs	BAP1_ENST00000296288.5_Frame_Shift_Ins_p.G515fs	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0					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)			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)		TCATCCTCTCCAAAAAGCACCT	0.609			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""																															p.G533fs	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	0			c.1597_1598insT						.																																			SO:0001589	frameshift_variant	8314	exon13			CCTCTCCAAAAAG	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.1597dupT	3.37:g.52437569_52437569dupA	ENSP00000417132:p.Gly533fs	188	1		123	97	NM_004656	0	0	0	0	0	B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Frame_Shift_Ins	INS	ENST00000460680.1	37	CCDS2853.1																																																																																			.		0.609	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1		
KALRN	8997	hgsc.bcm.edu;bcgsc.ca	37	3	124431854	124431855	+	Frame_Shift_Ins	INS	-	-	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr3:124431854_124431855insA	ENST00000291478.5	+	25	3220_3221	c.3057_3058insA	c.(3058-3060)aaafs	p.K1020fs	KALRN_ENST00000428018.2_Frame_Shift_Ins_p.K988fs|KALRN_ENST00000360013.3_Frame_Shift_Ins_p.K2717fs	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2716					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AATTTGTTAGCAAAAAAATGAA	0.47																																					p.S2716fs		.											.	KALRN-738	0			c.8148_8149insA						.																																			SO:0001589	frameshift_variant	8997	exon58			TGTTAGCAAAAAA	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000291478.5:c.3064dupA	3.37:g.124431861_124431861dupA	ENSP00000291478:p.Lys1020fs	86	0		59	43	NM_001024660	0	0	0	0	0	A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Frame_Shift_Ins	INS	ENST00000291478.5	37	CCDS3028.1																																																																																			.		0.470	KALRN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000246891.5	NM_003947	
CLOCK	9575	hgsc.bcm.edu;broad.mit.edu	37	4	56336953	56336954	+	Frame_Shift_Ins	INS	-	-	A	rs369752219		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr4:56336953_56336954insA	ENST00000309964.4	-	7	618_619	c.368_369insT	c.(367-369)ttafs	p.L123fs	CLOCK_ENST00000513440.1_Frame_Shift_Ins_p.L123fs|CLOCK_ENST00000381322.1_Frame_Shift_Ins_p.L123fs	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	123	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cellular response to ionizing radiation (GO:0071479)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA damage checkpoint (GO:0000077)|histone acetylation (GO:0016573)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription, DNA-templated (GO:0045892)|photoperiodism (GO:0009648)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|chromosome (GO:0005694)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone acetyltransferase activity (GO:0004402)|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 (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.L123fs*1(2)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			TCATGATTGCTAAAAAAAAACC	0.287																																					p.L123fs		.											.	CLOCK-515	2	Deletion - Frameshift(2)	ovary(1)|lung(1)	c.369_370insT						.																																			SO:0001589	frameshift_variant	9575	exon9			GATTGCTAAAAAA	AF011568	CCDS3500.1	4q12	2012-12-07	2012-12-07		ENSG00000134852	ENSG00000134852		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	2082	protein-coding gene	gene with protein product		601851	"""clock (mouse) homolog"", ""clock homolog (mouse)"""			10198158	Standard	NM_001267843		Approved	KIAA0334, KAT13D, bHLHe8	uc003hba.2	O15516	OTTHUMG00000102141	ENST00000309964.4:c.369dupT	4.37:g.56336962_56336962dupA	ENSP00000308741:p.Leu123fs	124	0		133	44	NM_001267843	0	0	0	0	0	A0AV01|A2I2N9|O14516|Q9UIT8	Frame_Shift_Ins	INS	ENST00000309964.4	37	CCDS3500.1																																																																																			.		0.287	CLOCK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361993.2	NM_004898	
NNT	23530	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	5	43619202	43619203	+	Frame_Shift_Ins	INS	-	-	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:43619202_43619203insA	ENST00000264663.5	+	5	889_890	c.668_669insA	c.(667-672)ggaaaafs	p.GK223fs	NNT_ENST00000512996.2_Frame_Shift_Ins_p.GK92fs|NNT_ENST00000344920.4_Frame_Shift_Ins_p.GK223fs	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	223					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					ACAGCTGCTGGAAAAGTTCCTC	0.287																																					p.G223fs		.											.	NNT-92	0			c.668_669insA						.																																			SO:0001589	frameshift_variant	23530	exon5			CTGCTGGAAAAGT	U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.672dupA	5.37:g.43619206_43619206dupA	ENSP00000264663:p.Gly223fs	42	0		27	10	NM_012343	0	0	0	0	0	Q16796|Q2TB60|Q8N3V4	Frame_Shift_Ins	INS	ENST00000264663.5	37	CCDS3949.1																																																																																			.		0.287	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	NM_182977	
PAM	5066	hgsc.bcm.edu;bcgsc.ca	37	5	102340902	102340903	+	Frame_Shift_Ins	INS	-	-	T	rs567991627		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:102340902_102340903insT	ENST00000438793.3	+	17	2245_2246	c.1775_1776insT	c.(1774-1779)tattggfs	p.W593fs	PAM_ENST00000455264.2_Frame_Shift_Ins_p.W593fs|PAM_ENST00000274392.9_Frame_Shift_Ins_p.W496fs|PAM_ENST00000348126.2_Frame_Shift_Ins_p.W486fs|PAM_ENST00000346918.2_Frame_Shift_Ins_p.W593fs|PAM_ENST00000304400.7_Frame_Shift_Ins_p.W593fs|PAM_ENST00000379787.4_5'UTR	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	593	Peptidyl-alpha-hydroxyglycine alpha- amidating lyase. {ECO:0000250}.				central nervous system development (GO:0007417)|heart development (GO:0007507)|lactation (GO:0007595)|limb development (GO:0060173)|long-chain fatty acid metabolic process (GO:0001676)|maternal process involved in female pregnancy (GO:0060135)|odontogenesis (GO:0042476)|ovulation cycle process (GO:0022602)|peptide amidation (GO:0001519)|protein amidation (GO:0018032)|protein homooligomerization (GO:0051260)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of protein secretion (GO:0050708)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to pH (GO:0009268)|toxin metabolic process (GO:0009404)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)|trans-Golgi network (GO:0005802)	calcium ion binding (GO:0005509)|copper ion binding (GO:0005507)|L-ascorbic acid binding (GO:0031418)|peptidylamidoglycolate lyase activity (GO:0004598)|peptidylglycine monooxygenase activity (GO:0004504)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	GATGGGAATTATTGGGTCACAG	0.361																																					p.Y592fs		.											.	PAM-68	0			c.1775_1776insT						.																																			SO:0001589	frameshift_variant	5066	exon17			GGAATTATTGGGT	AB095007	CCDS4092.1, CCDS4093.1, CCDS4094.1, CCDS43348.1, CCDS54885.1	5q	2008-02-05			ENSG00000145730	ENSG00000145730	1.14.17.3		8596	protein-coding gene	gene with protein product	"""peptidyl-alpha-hydroxyglycine alpha-amidating lyase"", ""peptidylglycine alpha-hydroxylating monooxygenase"""	170270				2357221	Standard	NM_000919		Approved	PAL, PHM	uc003knt.3	P19021	OTTHUMG00000128729	ENST00000438793.3:c.1777dupT	5.37:g.102340904_102340904dupT	ENSP00000396493:p.Trp593fs	270	1		351	114	NM_001177306	0	0	0	0	0	A6NMR0|A8K293|O43211|O95080|Q16252|Q16253|Q54A45|Q86U53|Q8WVC7|Q9UCG0	Frame_Shift_Ins	INS	ENST00000438793.3	37	CCDS54885.1																																																																																			.		0.361	PAM-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250640.2	NM_000919	
LARS	51520	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	5	145524102	145524103	+	Splice_Site	INS	-	-	G			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr5:145524102_145524103insG	ENST00000394434.2	-	17	1756		c.e17-2		LARS_ENST00000274562.9_Splice_Site|LARS_ENST00000545646.1_Splice_Site|LARS_ENST00000510191.1_Splice_Site	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase						gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	TCCAAGTACCTGGGAGTGGACA	0.396																																					.		.											.	LARS-90	0			c.1590-2->C						.																																			SO:0001630	splice_region_variant	51520	exon18			AGTACCTGGGAGT	AF151026	CCDS34265.1	5q32	2012-10-02			ENSG00000133706	ENSG00000133706	6.1.1.4	"""Aminoacyl tRNA synthetases / Class I"""	6512	protein-coding gene	gene with protein product	"""leucine tRNA ligase 1, cytoplasmic"""	151350				6933703	Standard	NM_020117		Approved	HSPC192, FLJ10595, FLJ21788, LARS1, LEUS, RNTLS	uc003lnx.1	Q9P2J5	OTTHUMG00000163429	ENST00000394434.2:c.1590-2->C	5.37:g.145524105_145524105dupG		109	0		147	67	NM_020117	0	0	0	0	0	A2RRR4|A7E266|B4DJ10|Q2TU79|Q9NSE1	Splice_Site	INS	ENST00000394434.2	37	CCDS34265.1																																																																																			.		0.396	LARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000373367.1	NM_020117	Intron
HIST1H2BE	8344	hgsc.bcm.edu;bcgsc.ca	37	6	26184051	26184052	+	Frame_Shift_Ins	INS	-	-	C			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:26184051_26184052insC	ENST00000356530.3	+	1	94_95	c.28_29insC	c.(28-30)gccfs	p.A10fs		NM_003523.2	NP_003514.2	P62807	H2B1C_HUMAN	histone cluster 1, H2be	10					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(2)|lung(1)	4						ATCCGCTCCCGCCCCGAAGAAG	0.53																																					p.A10fs		.											.	HIST1H2BE-90	0			c.28_29insC						.																																			SO:0001589	frameshift_variant	8344	exon1			GCTCCCGCCCCGA	Z80780	CCDS4588.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197697	ENSG00000274290		"""Histones / Replication-dependent"""	4753	protein-coding gene	gene with protein product		602805	"""H2B histone family, member H"", ""histone 1, H2be"""	H2BFH		9119399, 12408966	Standard	NM_003523		Approved	H2B/h, H2B.h	uc003ngt.3	P62807	OTTHUMG00000014427	ENST00000356530.3:c.32dupC	6.37:g.26184055_26184055dupC	ENSP00000348924:p.Ala10fs	197	2		244	95	NM_003523	0	0	0	0	0	P02278|Q3B872|Q4VB69|Q93078|Q93080	Frame_Shift_Ins	INS	ENST00000356530.3	37	CCDS4588.1																																																																																			.		0.530	HIST1H2BE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040090.1	NM_003523	
RRP36	88745	bcgsc.ca	37	6	42995208	42995209	+	Frame_Shift_Ins	INS	-	-	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:42995208_42995209insA	ENST00000244496.5	+	6	646_647	c.636_637insA	c.(637-639)aaafs	p.K213fs		NM_033112.2	NP_149103.1	Q96EU6	RRP36_HUMAN	ribosomal RNA processing 36 homolog (S. cerevisiae)	213					ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						CATACTTCCTGAAAAAATGTGA	0.564																																					p.L212fs		.											.	RRP36-90	0			c.636_637insA						.																																			SO:0001589	frameshift_variant	88745	exon6			CTTCCTGAAAAAA	BC011933	CCDS34453.1	6p21.1	2010-07-06	2010-07-06	2010-07-06	ENSG00000124541	ENSG00000124541			21374	protein-coding gene	gene with protein product		613475	"""chromosome 6 open reading frame 153"""	C6orf153		20038530	Standard	NM_033112		Approved	dJ20C7.4	uc003otp.1	Q96EU6	OTTHUMG00000014715	ENST00000244496.5:c.642dupA	6.37:g.42995214_42995214dupA	ENSP00000244496:p.Lys213fs	271	3		336	142	NM_033112	0	0	0	0	0	Q9BRF6|Q9P0C8	Frame_Shift_Ins	INS	ENST00000244496.5	37	CCDS34453.1																																																																																			.		0.564	RRP36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040572.1	NM_033112	
GPR115	221393	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	6	47680311	47680312	+	Frame_Shift_Ins	INS	-	-	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:47680311_47680312insT	ENST00000283303.2	+	5	777_778	c.519_520insT	c.(520-522)ttgfs	p.L174fs	GPR115_ENST00000327753.3_Frame_Shift_Ins_p.L174fs|GPR115_ENST00000371220.1_Frame_Shift_Ins_p.L231fs|RN7SKP116_ENST00000516902.1_RNA	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	174					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						TTTCTACAGACTTGTCTGATAA	0.272																																					p.D173fs	GBM(22;431 510 9010 26644 32828)	.											.	GPR115-160	0			c.519_520insT						.																																			SO:0001589	frameshift_variant	221393	exon5			TACAGACTTGTCT	AK095395	CCDS4922.2	6p12.3	2014-08-08			ENSG00000153294	ENSG00000153294		"""-"", ""GPCR / Class B : Orphans"""	19011	protein-coding gene	gene with protein product		614268				12435584	Standard	NM_153838		Approved	FLJ38076, PGR18	uc003oza.1	Q8IZF3	OTTHUMG00000014800	ENST00000283303.2:c.521dupT	6.37:g.47680313_47680313dupT	ENSP00000283303:p.Leu174fs	50	0		83	23	NM_153838	0	0	0	0	0	B3KTD0|Q2PNZ0|Q5T5B5|Q5T5B6|Q86SN9|Q8IXE6	Frame_Shift_Ins	INS	ENST00000283303.2	37	CCDS4922.2																																																																																			.		0.272	GPR115-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040819.2	NM_153838	
GSTA2	2939	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	6	52615481	52615482	+	Frame_Shift_Ins	INS	-	-	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:52615481_52615482insT	ENST00000493422.1	-	7	717_718	c.562_563insA	c.(562-564)atcfs	p.I188fs		NM_000846.4	NP_000837.3	P09210	GSTA2_HUMAN	glutathione S-transferase alpha 2	188	GST C-terminal.				epithelial cell differentiation (GO:0030855)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(77;0.118)				Azathioprine(DB00993)|Busulfan(DB01008)|Chloroquine(DB00608)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Vitamin E(DB00163)	CAGGTTACTGATTCTGGTTTTC	0.48																																					p.I188fs		.											.	GSTA2-91	0			c.563_564insA						.																																			SO:0001589	frameshift_variant	2939	exon7			TTACTGATTCTGG	AL109918	CCDS4944.1	6p12.2	2012-06-21	2008-11-26		ENSG00000244067	ENSG00000244067	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4627	protein-coding gene	gene with protein product		138360	"""glutathione S-transferase A2"""	GST2			Standard	NM_000846		Approved		uc003pay.3	P09210	OTTHUMG00000016263	ENST00000493422.1:c.563dupA	6.37:g.52615483_52615483dupT	ENSP00000420168:p.Ile188fs	86	0		76	35	NM_000846	0	0	0	0	0	Q12759|Q16491|Q9NTY6	Frame_Shift_Ins	INS	ENST00000493422.1	37	CCDS4944.1																																																																																			.		0.480	GSTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043589.1	NM_000846	
DST	667	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	6	56481544	56481545	+	Frame_Shift_Ins	INS	-	-	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:56481544_56481545insT	ENST00000370765.6	-	24	6827_6828	c.6720_6721insA	c.(6718-6723)aaaggtfs	p.G2241fs	DST_ENST00000370754.5_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000312431.6_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1583					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ATATGTTTACCTTTTTGTCTGT	0.455																																					p.G2241fs		.											.	DST-523	0			c.6721_6722insA						.																																			SO:0001589	frameshift_variant	667	exon24			GTTTACCTTTTTG	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000370765.6:c.6721dupA	6.37:g.56481549_56481549dupT	ENSP00000359801:p.Gly2241fs	62	0		95	40	NM_001723	0	0	0	0	0	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Frame_Shift_Ins	INS	ENST00000370765.6	37	CCDS4959.1																																																																																			.		0.455	DST-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041027.2	NM_001723	
LAMA4	3910	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	6	112441533	112441534	+	Frame_Shift_Ins	INS	-	-	T			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr6:112441533_112441534insT	ENST00000230538.7	-	33	5014_5015	c.4617_4618insA	c.(4615-4620)aaactgfs	p.L1540fs	LAMA4_ENST00000389463.4_Frame_Shift_Ins_p.L1533fs|LAMA4_ENST00000424408.2_Frame_Shift_Ins_p.L1533fs|LAMA4_ENST00000522006.1_Frame_Shift_Ins_p.L1533fs	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1540	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CTAATCTTCAGTTTTTTGTGAC	0.401																																					p.L1540fs		.											.	LAMA4-140	0			c.4618_4619insA						.																																			SO:0001589	frameshift_variant	3910	exon33			TCTTCAGTTTTTT		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.4618dupA	6.37:g.112441539_112441539dupT	ENSP00000230538:p.Leu1540fs	44	0		60	21	NM_001105206	0	0	0	0	0	Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Frame_Shift_Ins	INS	ENST00000230538.7	37	CCDS43491.1																																																																																			.		0.401	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206	
RSPH10B	222967	hgsc.bcm.edu;broad.mit.edu	37	7	6006678	6006679	+	Frame_Shift_Ins	INS	-	-	AG			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:6006678_6006679insAG	ENST00000405415.1	-	2	455_456	c.69_70insCT	c.(67-72)tctgatfs	p.D24fs	RSPH10B_ENST00000441023.2_Frame_Shift_Ins_p.D24fs|RSPH10B_ENST00000404406.1_Frame_Shift_Ins_p.D24fs|RSPH10B_ENST00000337579.3_Frame_Shift_Ins_p.D24fs			P0C881	R10B1_HUMAN	radial spoke head 10 homolog B (Chlamydomonas)	24										breast(1)|kidney(1)|lung(4)|ovary(1)|skin(4)	11		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0974)		TCTAGATTATCAGAGAGAGATG	0.465																																					p.D24fs		.											.	RSPH10B-23	0			c.70_71insCT						.																																			SO:0001589	frameshift_variant	222967	exon3			GATTATCAGAGAG		CCDS34598.1	7p22.2	2008-07-04			ENSG00000155026	ENSG00000155026			27362	protein-coding gene	gene with protein product						16507594	Standard	NM_173565		Approved		uc003sph.1	P0C881	OTTHUMG00000152378	ENST00000405415.1:c.68_69dupCT	7.37:g.6006685_6006686dupAG	ENSP00000385443:p.Asp24fs	251	0		292	59	NM_173565	0	0	0	0	0	A6NMW7|Q86ST9|Q8NE68	Frame_Shift_Ins	INS	ENST00000405415.1	37	CCDS34598.1																																																																																			.		0.465	RSPH10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325465.2	NM_173565	
RSPH10B2	728194	hgsc.bcm.edu	37	7	6797368	6797369	+	Frame_Shift_Ins	INS	-	-	TC			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:6797368_6797369insTC	ENST00000403107.1	+	2	447_448	c.60_61insTC	c.(61-63)tctfs	p.S21fs	RSPH10B2_ENST00000359718.3_5'UTR|RSPH10B2_ENST00000297186.3_Frame_Shift_Ins_p.S21fs|RSPH10B2_ENST00000433859.2_Frame_Shift_Ins_p.S21fs|RSPH10B2_ENST00000404077.1_Frame_Shift_Ins_p.S21fs			B2RC85	R10B2_HUMAN	radial spoke head 10 homolog B2 (Chlamydomonas)	21										breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|skin(2)	15						GCTCTCCCTCATCTCTCTCTGA	0.45																																					p.S20fs		.											.	RSPH10B-23	0			c.60_61insTC						.																																			SO:0001589	frameshift_variant	222967	exon3			TCCCTCATCTCTC		CCDS43552.1	7p22.1	2008-07-04			ENSG00000169402	ENSG00000169402			34385	protein-coding gene	gene with protein product							Standard	NM_001099697		Approved		uc003sqw.1	B2RC85	OTTHUMG00000151856	ENST00000403107.1:c.67_68dupTC	7.37:g.6797375_6797376dupTC	ENSP00000384766:p.Ser21fs	116	0		158	32	NM_173565	0	0	0	0	0	A6NMW7|B2RXI4|B2RXJ0|Q86ST9|Q8NE68	Frame_Shift_Ins	INS	ENST00000403107.1	37	CCDS43552.1																																																																																			.		0.450	RSPH10B2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324184.4	NM_001099697	
COBL	23242	hgsc.bcm.edu;bcgsc.ca	37	7	51287561	51287562	+	Frame_Shift_Ins	INS	-	-	G	rs368613191		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:51287561_51287562insG	ENST00000265136.7	-	2	286_287	c.121_122insC	c.(121-123)cacfs	p.H41fs	COBL_ENST00000395540.2_Frame_Shift_Ins_p.H41fs|COBL_ENST00000441453.1_Frame_Shift_Ins_p.H41fs|COBL_ENST00000395542.2_Frame_Shift_Ins_p.H41fs	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	41					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					GGCCCCATCGTGGGGGGGCTTC	0.604																																					p.H41fs	NSCLC(189;2119 2138 12223 30818 34679)	.											.	COBL-95	0			c.122_123insC						.																																			SO:0001589	frameshift_variant	23242	exon2			CCATCGTGGGGGG	AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"""cordon-bleu homolog (mouse)"""				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.122dupC	7.37:g.51287568_51287568dupG	ENSP00000265136:p.His41fs	137	2		138	60	NM_015198	0	0	0	0	0	A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Frame_Shift_Ins	INS	ENST00000265136.7	37	CCDS34637.1																																																																																			.		0.604	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198	
PODXL	5420	hgsc.bcm.edu	37	7	131241029	131241030	+	In_Frame_Ins	INS	-	-	GGCGAC	rs11277659|rs547816245|rs532078953|rs79759078|rs571821675	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr7:131241029_131241030insGGCGAC	ENST00000378555.3	-	1	336_337	c.89_90insGTCGCC	c.(88-90)ccc>ccGTCGCCc	p.30_30P>PSP	PODXL_ENST00000537928.1_In_Frame_Ins_p.30_30P>PSP|PODXL_ENST00000465001.1_Intron|PODXL_ENST00000541194.1_In_Frame_Ins_p.30_30P>PSP|PODXL_ENST00000322985.9_In_Frame_Ins_p.30_30P>PSP			O00592	PODXL_HUMAN	podocalyxin-like	30					cell adhesion (GO:0007155)|cell migration (GO:0016477)|epithelial tube formation (GO:0072175)|glomerular visceral epithelial cell development (GO:0072015)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-cell adhesion (GO:0022408)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|regulation of microvillus assembly (GO:0032534)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|slit diaphragm (GO:0036057)		p.P30_S31delPS(2)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					CATTCTGGGAGggcgacggcga	0.752																																					p.P30delinsPSP		.											.	PODXL-136	2	Deletion - In frame(2)	prostate(2)	c.90_91insGTCGCC						.																																			SO:0001652	inframe_insertion	5420	exon1			CTGGGAGGGCGAC		CCDS34755.1, CCDS47714.1	7q32-q33	2008-07-18			ENSG00000128567	ENSG00000128567			9171	protein-coding gene	gene with protein product		602632					Standard	NM_001018111		Approved	PCLP, Gp200, PC	uc003vqx.4	O00592	OTTHUMG00000154918	ENST00000378555.3:c.84_89dupGTCGCC	7.37:g.131241030_131241035dupGGCGAC	ENSP00000367817:p.SerPro30dup	3	0		63	6	NM_005397	0	0	0	0	0	A6NHX8|Q52LZ7|Q53ER6	In_Frame_Ins	INS	ENST00000378555.3	37	CCDS34755.1																																																																																			.		0.752	PODXL-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337627.2	NM_001018111	
TPRN	286262	hgsc.bcm.edu	37	9	140087024	140087025	+	In_Frame_Ins	INS	-	-	TCC	rs397516588|rs139510609|rs376810326		TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr9:140087024_140087025insTCC	ENST00000409012.4	-	2	1930_1931	c.1844_1845insGGA	c.(1843-1845)gaa>gaGGAa	p.615_615E>EE	TPRN_ENST00000321773.2_In_Frame_Ins_p.554_554E>EE|TPRN_ENST00000541945.1_5'Flank	NM_001128228.2	NP_001121700.2	Q4KMQ1	TPRN_HUMAN	taperin	615	Glu-rich.				sensory perception of sound (GO:0007605)	stereocilium (GO:0032420)		p.E315delE(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	8						cctcttcctcttcctcctcctc	0.599																																					p.E615delinsEE		.											.	TPRN-90	1	Deletion - In frame(1)	large_intestine(1)	c.1845_1846insGGA						.																																			SO:0001652	inframe_insertion	286262	exon2			TTCCTCTTCCTCC	AK074735	CCDS56594.1	9q34.3	2011-01-06	2010-03-24	2010-03-24	ENSG00000176058	ENSG00000176058			26894	protein-coding gene	gene with protein product		613354	"""chromosome 9 open reading frame 75"", ""deafness, autosomal recessive 79"""	C9orf75, DFNB79		20170898, 20170899	Standard	NM_001128228		Approved	FLJ90254	uc004clu.3	Q4KMQ1	OTTHUMG00000020984	ENST00000409012.4:c.1842_1844dupGGA	9.37:g.140087031_140087033dupTCC	ENSP00000387100:p.Glu621dup	82	0		91	0	NM_001128228	0	0	0	0	0	B7ZKU5|Q5VSG5|Q5VSG6|Q6IPP2|Q8NCH2	In_Frame_Ins	INS	ENST00000409012.4	37	CCDS56594.1																																																																																			.		0.599	TPRN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055323.3	NM_173691	
GPR112	139378	hgsc.bcm.edu;bcgsc.ca	37	X	135430724	135430725	+	Frame_Shift_Ins	INS	-	-	A			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chrX:135430724_135430725insA	ENST00000394143.1	+	6	5150_5151	c.4859_4860insA	c.(4858-4863)tcaaaafs	p.SK1620fs	GPR112_ENST00000394141.1_Frame_Shift_Ins_p.SK1415fs|GPR112_ENST00000287534.4_Frame_Shift_Ins_p.SK1557fs|GPR112_ENST00000412101.1_Frame_Shift_Ins_p.SK1415fs|GPR112_ENST00000370652.1_Frame_Shift_Ins_p.SK1620fs	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1620					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GGGGCTACTTCAAAAAACAAAA	0.426																																					p.S1620fs		.											.	GPR112-183	0			c.4859_4860insA						.																																			SO:0001589	frameshift_variant	139378	exon6			CTACTTCAAAAAA	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.4865dupA	X.37:g.135430730_135430730dupA	ENSP00000377699:p.Ser1620fs	52	1		57	45	NM_153834	0	0	0	0	0	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Frame_Shift_Ins	INS	ENST00000394143.1	37	CCDS35409.1																																																																																			.		0.426	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1		
SLC6A9	6536	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	44466854	44466855	+	Missense_Mutation	DNP	GC	GC	TG			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	GC	GC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr1:44466854_44466855GC>TG	ENST00000360584.2	-	10	1726_1727	c.1535_1536GC>CA	c.(1534-1536)gGC>gCA	p.G512A	SLC6A9_ENST00000357730.2_Missense_Mutation_p.G458A|SLC6A9_ENST00000475075.2_Missense_Mutation_p.G328A|SLC6A9_ENST00000372307.3_Missense_Mutation_p.G374A|SLC6A9_ENST00000372306.3_Missense_Mutation_p.G439A|SLC6A9_ENST00000372310.3_Missense_Mutation_p.G439A|SLC6A9_ENST00000537678.1_Missense_Mutation_p.G374A	NM_201649.3	NP_964012.2	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	512					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	TGAGGGGGATGCCCAGCAGGAA	0.629																																					p.G512A		.											.	SLC6A9-90	0			c.G1535C						.																																			SO:0001583	missense	6536	exon10			GGGATGCCCAGCA	S70609	CCDS30695.1, CCDS41316.1, CCDS41317.1	1p33	2013-05-22			ENSG00000196517	ENSG00000196517		"""Solute carriers"""	11056	protein-coding gene	gene with protein product		601019				8183239, 7587377	Standard	NM_006934		Approved	GLYT1	uc001cll.4	P48067	OTTHUMG00000008294	ENST00000360584.2:c.1535_1536delinsTG	1.37:g.44466854_44466855delinsTG	ENSP00000353791:p.Gly512Ala	291	0		378	0	NM_201649	0	0	0	0	0	A6NDH1|A6NII2|A6NNZ8|Q5TAB8|Q5TAB9|Q5TAC0	Missense_Mutation	DNP	ENST00000360584.2	37	CCDS41317.1																																																																																			.		0.629	SLC6A9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000022825.2	NM_201649	
ZCCHC14	23174	hgsc.bcm.edu;ucsc.edu	37	16	87445172	87445173	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	CC	CC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr16:87445172_87445173CC>TT	ENST00000268616.4	-	12	2960_2961	c.2743_2744GG>AA	c.(2743-2745)GGt>AAt	p.G915N		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	915							nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		GGCGCGGTGACCAGTGGCCCCG	0.624																																					p.G915N		.											.	ZCCHC14-154	0			c.G2743A						.																																			SO:0001583	missense	23174	exon12			GGTGACCAGTGGC	AB011151	CCDS10961.1	16q24.2	2013-01-10			ENSG00000140948	ENSG00000140948		"""Zinc fingers, CCHC domain containing"", ""Sterile alpha motif (SAM) domain containing"""	24134	protein-coding gene	gene with protein product						9628581	Standard	XM_005255858		Approved	BDG29, MGC14139	uc002fjz.1	Q8WYQ9	OTTHUMG00000137655	ENST00000268616.4:c.2743_2744delinsTT	16.37:g.87445172_87445173delinsTT	ENSP00000268616:p.Gly915Asn	138	0		120	18	NM_015144	0	0	0	0	0	D3DUN1|O60324|Q3MJD8|Q9UFP0	Missense_Mutation	DNP	ENST00000268616.4	37	CCDS10961.1																																																																																			.		0.624	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269107.1	NM_015144	
MEX3C	51320	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	18	48702805	48702806	+	5'Flank	DNP	AC	AC	CA			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	AC	AC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr18:48702805_48702806AC>CA	ENST00000591040.1	-	0	799							Q5U5Q3	MEX3C_HUMAN	mex-3 RNA binding family member C						chondrocyte hypertrophy (GO:0003415)|energy homeostasis (GO:0097009)|regulation of fat cell differentiation (GO:0045598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|skin(1)	17		Colorectal(6;0.003)|all_epithelial(6;0.0473)		Colorectal(16;0.0175)|READ - Rectum adenocarcinoma(32;0.15)		TCTTGTTGGCACATTCCATGCA	0.431																																					p.C632L		.											.	MEX3C-659	0			c.G1895T						.																																			SO:0001631	upstream_gene_variant	51320	exon2			TTGGCACATTCCA	BC041122	CCDS11951.2	18q21.1	2013-08-21	2013-08-21	2007-07-18	ENSG00000176624	ENSG00000176624		"""RING-type (C3HC4) zinc fingers"", ""Mex-3 homologs"""	28040	protein-coding gene	gene with protein product		611005	"""ring finger and KH domain containing 2"", ""mex-3 homolog C (C. elegans)"""	RKHD2		17267406	Standard	NM_016626		Approved	FLJ38871, RNF194	uc002lfc.4	Q5U5Q3	OTTHUMG00000132693	Exception_encountered	18.37:g.48702805_48702806delinsCA	Exception_encountered	216	0		136	0	NM_016626	0	0	0	0	0	A1L022|Q9NZE3	Missense_Mutation	DNP	ENST00000591040.1	37																																																																																				.		0.431	MEX3C-003	KNOWN	mRNA_end_NF|basic	processed_transcript	protein_coding	OTTHUMT00000449559.1	NM_016626	
ICAM1	3383	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	10394800	10394801	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	CC	CC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:10394800_10394801CC>TT	ENST00000264832.3	+	4	1054_1055	c.729_730CC>TT	c.(727-732)ttCCca>ttTTca	p.P244S	ICAM4_ENST00000340992.4_5'Flank|ICAM4_ENST00000393717.2_5'Flank|CTD-2369P2.8_ENST00000589379.1_RNA|CTD-2369P2.5_ENST00000592893.1_RNA|ICAM1_ENST00000423829.2_Intron|ICAM4_ENST00000380770.3_5'Flank	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	244	Ig-like C2-type 3.				adhesion of symbiont to host (GO:0044406)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell aging (GO:0007569)|cellular response to alkaloid (GO:0071312)|cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nutrient levels (GO:0031669)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|establishment of endothelial barrier (GO:0061028)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|ovarian follicle development (GO:0001541)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cellular extravasation (GO:0002693)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of vasoconstriction (GO:0045907)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of leukocyte mediated cytotoxicity (GO:0001910)|regulation of ruffle assembly (GO:1900027)|response to amino acid (GO:0043200)|response to amphetamine (GO:0001975)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gonadotropin (GO:0034698)|response to ionizing radiation (GO:0010212)|response to organic cyclic compound (GO:0014070)|response to sulfur dioxide (GO:0010477)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)|T cell antigen processing and presentation (GO:0002457)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Hyaluronan(DB08818)|Natalizumab(DB00108)	ACGGGCTGTTCCCAGTCTCGGA	0.644																																					p.P244S		.											.	ICAM1-91	0			c.C730T						.																																			SO:0001583	missense	3383	exon4			CTGTTCCCAGTCT		CCDS12231.1	19p13.3-p13.2	2014-01-30	2008-07-18			ENSG00000090339		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	5344	protein-coding gene	gene with protein product	"""human rhinovirus receptor"""	147840				2453850, 3871395	Standard	NM_000201		Approved	BB2, CD54	uc002mnq.2	P05362		Exception_encountered	19.37:g.10394800_10394801delinsTT	ENSP00000264832:p.Pro244Ser	106	0		114	15	NM_000201	0	0	0	0	0	B2R6M3|Q5NKV7|Q96B50	Missense_Mutation	DNP	ENST00000264832.3	37	CCDS12231.1																																																																																			.		0.644	ICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451207.1		
CARD8	22900	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	48734920	48734921	+	Missense_Mutation	DNP	TA	TA	AT			TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	TA	TA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr19:48734920_48734921TA>AT	ENST00000359009.4	-	4	535_536	c.223_224TA>AT	c.(223-225)TAc>ATc	p.Y75I	ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000357778.5_5'UTR|CARD8_ENST00000520753.1_Missense_Mutation_p.Y180I|CARD8_ENST00000520153.1_Missense_Mutation_p.Y130I|CARD8_ENST00000520015.1_Missense_Mutation_p.Y180I|CARD8_ENST00000391898.3_Missense_Mutation_p.Y180I|CARD8_ENST00000521613.1_Missense_Mutation_p.Y130I|CARD8_ENST00000447740.2_Missense_Mutation_p.Y130I|CARD8_ENST00000519940.1_Missense_Mutation_p.Y180I			Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8	75					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)|NLRP3 inflammasome complex (GO:0072559)|nucleus (GO:0005634)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|NACHT domain binding (GO:0032089)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)		TTCTTACCTGTATCTGTTTGTG	0.416																																					p.Y180I		.											.	CARD8-227	0			c.T538A						.																																			SO:0001583	missense	22900	exon5			ACCTGTATCTGTT	AB023172	CCDS12712.1, CCDS12712.2, CCDS54287.1, CCDS54288.1, CCDS54289.1	19q13.33	2011-05-24			ENSG00000105483	ENSG00000105483			17057	protein-coding gene	gene with protein product		609051				10231032, 11408476	Standard	NM_001184900		Approved	TUCAN, KIAA0955, CARDINAL, NDPP, Dakar	uc010xzj.2	Q9Y2G2	OTTHUMG00000165047	ENST00000359009.4:c.223_224delinsAT	19.37:g.48734920_48734921delinsAT	ENSP00000351901:p.Tyr75Ile	52	0		64	0	NM_001184900	0	0	0	0	0	B5KVR6|B7Z496|B7Z4A2|E9PEM7|G3XAM9|Q6PGP8|Q96P82	Missense_Mutation	DNP	ENST00000359009.4	37																																																																																				.		0.416	CARD8-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014959	
KRTAP10-2	386679	hgsc.bcm.edu;ucsc.edu	37	21	45970771	45970772	+	Missense_Mutation	DNP	CA	CA	TG	rs76021731|rs200215960|rs67692969|rs71199610	byFrequency	TCGA-PK-A5HB-01A-11D-A29I-10	TCGA-PK-A5HB-11A-11D-A29L-10	CA	CA	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dbc55717-0bee-4460-a952-1a4078094830	e6c172a7-1dbb-40b9-9850-a361ddcc7b28	g.chr21:45970771_45970772CA>TG	ENST00000391621.1	-	1	616_617	c.570_571TG>CA	c.(568-573)ccTGtc>ccCAtc	p.V191I	TSPEAR_ENST00000323084.4_Intron|KRTAP10-2_ENST00000498210.1_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN	keratin associated protein 10-2	191	22 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				large_intestine(1)|lung(4)|skin(1)	6						TTGCAGCAGACAGGCTTGCAGC	0.609																																					p.V191I		.											.	KRTAP10-2-135	0			c.T570C						.																																			SO:0001583	missense	386679	exon1			GCAGACAGGCTTG	AJ566381	CCDS42955.1	21q22.3	2007-10-05			ENSG00000205445	ENSG00000205445		"""Keratin associated proteins"""	22967	protein-coding gene	gene with protein product				KRTAP18-2			Standard	NM_198693		Approved	KAP10.2, KAP18.2	uc002zfi.1	P60368	OTTHUMG00000057625	ENST00000391621.1:c.570_571delinsTG	21.37:g.45970771_45970772delinsTG	ENSP00000375479:p.Val191Ile	218	0		211	0	NM_198693	0	0	0	0	0	Q70LJ5	Missense_Mutation	DNP	ENST00000391621.1	37	CCDS42955.1																																																																																			A|0.908;G|0.092		0.609	KRTAP10-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128027.1		
