#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_Algorithm	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_Codon	i_COSMIC_Gene	i_COSMIC_Gene_Freq	i_COSMIC_Site_Freq	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ChromChange	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Confidence	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_NVarRat	i_ORegAnno_bin	i_TTotCov	i_TVarCov	i_TVarRat	i_Transcript_Id	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_dbSNP_AF	i_dbSNP_PopFreq	i_dbSNP_Strength	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
DDI2	84301	hgsc.bcm.edu	37	1	15956839	15956839	+	Silent	SNP	C	C	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr1:15956839C>T	ENST00000480945.1	+	3	459	c.288C>T	c.(286-288)ttC>ttT	p.F96F		NM_032341.4	NP_115717.3	Q5TDH0	DDI2_HUMAN	DNA-damage inducible 1 homolog 2 (S. cerevisiae)	96							aspartic-type endopeptidase activity (GO:0004190)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1)	17		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		GAATAGATTTCAGTAGTATAG	0.463																																					p.F96F		Atlas-SNP	.											.	DDI2	38	.	0			c.C288T						PASS	.						87.0	90.0	89.0					1																	15956839		2203	4300	6503	SO:0001819	synonymous_variant	84301	exon3			AGATTTCAGTAGT		CCDS30607.1	1p36.13	2010-05-04	2010-05-04		ENSG00000197312	ENSG00000197312			24578	protein-coding gene	gene with protein product			"""DDI1, DNA-damage inducible 1, homolog 2 (S. cerevisiae)"""				Standard	NM_032341		Approved	MGC14844	uc001awx.2	Q5TDH0	OTTHUMG00000002381	ENST00000480945.1:c.288C>T	chr1.hg19:g.15956839C>T		168.0	0.0	.		133.0	66.0	.	NM_032341	A8KAE1|Q7RTZ0|Q9BRT1	Silent	SNP	ENST00000480945.1	hg19	CCDS30607.1																																																																																			.	.	.	none		0.463	DDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006826.1	NM_032341	
MSH4	4438	hgsc.bcm.edu	37	1	76269502	76269502	+	Missense_Mutation	SNP	G	G	A			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr1:76269502G>A	ENST00000263187.3	+	2	435	c.331G>A	c.(331-333)Gat>Aat	p.D111N		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	111					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						TTCTGCACGAGATACTAATTA	0.363								Mismatch excision repair (MMR)																													p.D111N		Atlas-SNP	.											MSH4,NS,carcinoma,0,1	MSH4	147	.	0			c.G331A						PASS	.						97.0	101.0	100.0					1																	76269502		2203	4300	6503	SO:0001583	missense	4438	exon2			GCACGAGATACTA	U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468			7327	protein-coding gene	gene with protein product		602105	"""mutS (E. coli) homolog 4"", ""mutS homolog 4 (E. coli)"""			9299235	Standard	NM_002440		Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.331G>A	chr1.hg19:g.76269502G>A	ENSP00000263187:p.Asp111Asn	60.0	0.0	.		110.0	52.0	.	NM_002440	Q5T4U6|Q8NEB3|Q9UNP8	Missense_Mutation	SNP	ENST00000263187.3	hg19	CCDS670.1	.	.	.	.	.	.	.	.	.	.	G	10.35	1.326532	0.24080	.	.	ENSG00000057468	ENST00000263187	D	0.87256	-2.23	4.73	3.81	0.43845	.	0.591556	0.15780	N	0.245000	T	0.61776	0.2374	N	0.24115	0.695	0.09310	N	1	B	0.19817	0.039	B	0.11329	0.006	T	0.55392	-0.8148	10	0.49607	T	0.09	-16.9831	6.3049	0.21133	0.16:0.0:0.6929:0.147	.	111	O15457	MSH4_HUMAN	N	111	ENSP00000263187:D111N	ENSP00000263187:D111N	D	+	1	0	MSH4	76042090	0.920000	0.31207	0.889000	0.34880	0.806000	0.45545	3.225000	0.51246	0.984000	0.38629	-0.266000	0.10368	GAT	.	.	.	none		0.363	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026983.1	NM_002440	
LRRC8C	84230	hgsc.bcm.edu	37	1	90180228	90180228	+	Missense_Mutation	SNP	C	C	A			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr1:90180228C>A	ENST00000370454.4	+	3	2354	c.2099C>A	c.(2098-2100)cCt>cAt	p.P700H	LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron	NM_032270.4	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	700					fat cell differentiation (GO:0045444)|ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		TTTATCCCCCCTGAAATTGGA	0.383																																					p.P700H		Atlas-SNP	.											.	LRRC8C	73	.	0			c.C2099A						PASS	.						68.0	63.0	65.0					1																	90180228		2203	4299	6502	SO:0001583	missense	84230	exon3			TCCCCCCTGAAAT		CCDS725.1	1p22.2	2011-02-10			ENSG00000171488	ENSG00000171488			25075	protein-coding gene	gene with protein product	"""hypothetical protein AD158"""	612889				11230166	Standard	NM_032270		Approved	AD158	uc001dnl.4	Q8TDW0	OTTHUMG00000010305	ENST00000370454.4:c.2099C>A	chr1.hg19:g.90180228C>A	ENSP00000359483:p.Pro700His	43.0	0.0	.		77.0	29.0	.	NM_032270	B3KXS9|Q29RV6|Q9H075	Missense_Mutation	SNP	ENST00000370454.4	hg19	CCDS725.1	.	.	.	.	.	.	.	.	.	.	C	12.14	1.849986	0.32699	.	.	ENSG00000171488	ENST00000370454	T	0.25414	1.8	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.24353	0.0590	M	0.78049	2.395	0.80722	D	1	B	0.25351	0.124	B	0.24269	0.052	T	0.02789	-1.1110	10	0.35671	T	0.21	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	700	Q8TDW0	LRC8C_HUMAN	H	700	ENSP00000359483:P700H	ENSP00000359483:P700H	P	+	2	0	LRRC8C	89952816	1.000000	0.71417	0.801000	0.32222	0.989000	0.77384	6.050000	0.71063	2.941000	0.99782	0.655000	0.94253	CCT	.	.	.	none		0.383	LRRC8C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028435.2	NM_032270	
RBM15	64783	hgsc.bcm.edu	37	1	110882978	110882978	+	Silent	SNP	T	T	C			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr1:110882978T>C	ENST00000369784.3	+	1	1851	c.951T>C	c.(949-951)ccT>ccC	p.P317P	RBM15_ENST00000602849.1_Silent_p.P317P|RP5-1074L1.1_ENST00000449169.1_RNA|RBM15_ENST00000487146.2_Silent_p.P317P	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	317					negative regulation of myeloid cell differentiation (GO:0045638)|patterning of blood vessels (GO:0001569)|placenta blood vessel development (GO:0060674)|positive regulation of transcription of Notch receptor target (GO:0007221)|spleen development (GO:0048536)|ventricular septum morphogenesis (GO:0060412)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		GCCTGCCCCCTCCACCTCCGC	0.607			T	MKL1	acute megakaryocytic leukemia																																p.P317P		Atlas-SNP	.		Dom	yes		1	1p13	64783	RNA binding motif protein 15		L	.	RBM15	93	.	0			c.T951C						PASS	.						46.0	52.0	50.0					1																	110882978		2203	4300	6503	SO:0001819	synonymous_variant	64783	exon1			GCCCCCTCCACCT	AF368063	CCDS822.1, CCDS59198.1	1p13	2013-02-12			ENSG00000162775	ENSG00000162775		"""RNA binding motif (RRM) containing"""	14959	protein-coding gene	gene with protein product	"""one twenty-two"""	606077				11431691, 11344311	Standard	NM_001201545		Approved	OTT, OTT1	uc001dzl.1	Q96T37	OTTHUMG00000011284	ENST00000369784.3:c.951T>C	chr1.hg19:g.110882978T>C		214.0	1.0	.		112.0	53.0	.	NM_022768	A1A693|Q3ZB86|Q4V760|Q5D058|Q5T613|Q86VW9|Q96PE4|Q96SC5|Q96SC6|Q96SC9|Q96SD0|Q96T38|Q9BRA5|Q9H6R8|Q9H9Y0	Silent	SNP	ENST00000369784.3	hg19	CCDS822.1																																																																																			.	.	.	none		0.607	RBM15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000031114.2	NM_022768	
ANKRD35	148741	hgsc.bcm.edu	37	1	145561688	145561688	+	Missense_Mutation	SNP	A	A	G			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr1:145561688A>G	ENST00000355594.4	+	10	1463	c.1376A>G	c.(1375-1377)cAg>cGg	p.Q459R		NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	459										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CATGCTGACCAGCTGCCTGCT	0.592																																					p.Q459R	Melanoma(9;127 754 22988 51047)	Atlas-SNP	.											.	ANKRD35	96	.	0			c.A1376G						PASS	.						55.0	63.0	60.0					1																	145561688		2203	4300	6503	SO:0001583	missense	148741	exon10			CTGACCAGCTGCC	AK091120	CCDS72867.1, CCDS72868.1	1q21.1	2013-01-10			ENSG00000198483	ENSG00000198483		"""Ankyrin repeat domain containing"""	26323	protein-coding gene	gene with protein product							Standard	NM_144698		Approved	FLJ25124	uc001eob.1	Q8N283	OTTHUMG00000013743	ENST00000355594.4:c.1376A>G	chr1.hg19:g.145561688A>G	ENSP00000347802:p.Gln459Arg	169.0	0.0	.		113.0	48.0	.	NM_144698	A6NEU0|B4DL62|Q3MJ10|Q96LS3	Missense_Mutation	SNP	ENST00000355594.4	hg19	CCDS919.1	.	.	.	.	.	.	.	.	.	.	a	0.294	-0.978340	0.02197	.	.	ENSG00000198483	ENST00000453670;ENST00000355594	T	0.67698	-0.28	5.54	0.0734	0.14390	.	0.859396	0.09865	N	0.745663	T	0.33760	0.0874	M	0.63428	1.95	0.09310	N	1	B	0.26935	0.164	B	0.22601	0.04	T	0.16158	-1.0412	10	0.27785	T	0.31	-2.3373	2.517	0.04670	0.4852:0.2931:0.0804:0.1412	.	459	Q8N283	ANR35_HUMAN	R	368;459	ENSP00000347802:Q459R	ENSP00000347802:Q459R	Q	+	2	0	ANKRD35	144273045	0.003000	0.15002	0.000000	0.03702	0.002000	0.02628	1.054000	0.30455	0.044000	0.15775	-0.253000	0.11424	CAG	.	.	.	none		0.592	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038515.1	NM_144698	
MAEL	84944	hgsc.bcm.edu	37	1	166974561	166974561	+	Missense_Mutation	SNP	C	C	A			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr1:166974561C>A	ENST00000367872.4	+	8	1016	c.772C>A	c.(772-774)Ctc>Atc	p.L258I	MAEL_ENST00000367870.2_Missense_Mutation_p.L227I|RNA5SP65_ENST00000363166.1_RNA|MAEL_ENST00000491055.1_3'UTR	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	258					cell differentiation (GO:0030154)|cell morphogenesis (GO:0000902)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|piRNA metabolic process (GO:0034587)|regulation of organ growth (GO:0046620)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	autosome (GO:0030849)|chromatin (GO:0000785)|chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|perinuclear region of cytoplasm (GO:0048471)|piP-body (GO:0071547)|XY body (GO:0001741)	DNA binding (GO:0003677)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						ACAAAAATTTCTCAAGGAGCC	0.398																																					p.L258I		Atlas-SNP	.											.	MAEL	95	.	0			c.C772A						PASS	.						73.0	78.0	76.0					1																	166974561		2203	4300	6503	SO:0001583	missense	84944	exon8			AAATTTCTCAAGG	AK027810, DQ076156	CCDS1257.1, CCDS65712.1, CCDS72975.1	1q24.1	2013-10-11	2012-12-18		ENSG00000143194	ENSG00000143194			25929	protein-coding gene	gene with protein product	"""cancer/testis antigen 128"", ""spermatogenesis associated 35"""	611368	"""maelstrom homolog (Drosophila)"""			19693694, 18694567	Standard	NM_001286378		Approved	FLJ14904, CT128, SPATA35	uc001gdy.1	Q96JY0	OTTHUMG00000034432	ENST00000367872.4:c.772C>A	chr1.hg19:g.166974561C>A	ENSP00000356846:p.Leu258Ile	33.0	0.0	.		62.0	28.0	.	NM_032858	B4DY43|E9JVC3|Q49AP9|Q5VZP8|Q9UIW6	Missense_Mutation	SNP	ENST00000367872.4	hg19	CCDS1257.1	.	.	.	.	.	.	.	.	.	.	C	12.06	1.825645	0.32237	.	.	ENSG00000143194	ENST00000367872;ENST00000367870;ENST00000447624	T;T;T	0.47869	0.85;0.83;0.85	5.66	4.75	0.60458	.	0.324591	0.26193	N	0.025795	T	0.13927	0.0337	N	0.08118	0	0.23765	N	0.996906	B;B	0.32071	0.301;0.355	B;B	0.38225	0.209;0.268	T	0.05920	-1.0856	10	0.42905	T	0.14	.	7.8331	0.29355	0.0:0.7505:0.1634:0.086	.	227;258	E9JVC3;Q96JY0	.;MAEL_HUMAN	I	258;227;227	ENSP00000356846:L258I;ENSP00000356844:L227I;ENSP00000402143:L227I	ENSP00000356844:L227I	L	+	1	0	MAEL	165241185	0.611000	0.26992	0.982000	0.44146	0.989000	0.77384	1.344000	0.33941	1.389000	0.46526	0.591000	0.81541	CTC	.	.	.	none		0.398	MAEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083239.1	NM_032858	
CNTN2	6900	hgsc.bcm.edu	37	1	205028742	205028742	+	Silent	SNP	C	C	A			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr1:205028742C>A	ENST00000331830.4	+	7	1013	c.729C>A	c.(727-729)gcC>gcA	p.A243A	AL583832.1_ENST00000515887.1_RNA	NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	243	Ig-like C2-type 3.				adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|central nervous system myelination (GO:0022010)|cerebral cortex GABAergic interneuron migration (GO:0021853)|clustering of voltage-gated potassium channels (GO:0045163)|establishment of protein localization to juxtaparanode region of axon (GO:0071206)|learning (GO:0007612)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|positive regulation of protein processing (GO:0010954)|presynaptic membrane organization (GO:0097090)|receptor internalization (GO:0031623)|regulation of astrocyte differentiation (GO:0048710)|regulation of axon diameter (GO:0031133)|regulation of neuronal synaptic plasticity (GO:0048168)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|juxtaparanode region of axon (GO:0044224)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated potassium channel complex (GO:0008076)	carbohydrate binding (GO:0030246)|identical protein binding (GO:0042802)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GCATCAAGGCCCGGTTCCCAG	0.582																																					p.A243A	Melanoma(183;2548 2817 37099 41192)	Atlas-SNP	.											.	CNTN2	116	.	0			c.C729A						PASS	.						90.0	91.0	91.0					1																	205028742		2203	4300	6503	SO:0001819	synonymous_variant	6900	exon7			CAAGGCCCGGTTC	X67734	CCDS1449.1	1q32.1	2013-02-11			ENSG00000184144	ENSG00000184144		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2172	protein-coding gene	gene with protein product		190197		TAX, AXT		8307567, 8586965	Standard	NM_005076		Approved	TAG-1, TAX1	uc001hbr.3	Q02246	OTTHUMG00000037105	ENST00000331830.4:c.729C>A	chr1.hg19:g.205028742C>A		287.0	0.0	.		155.0	53.0	.	NM_005076	P78432|Q5T054	Silent	SNP	ENST00000331830.4	hg19	CCDS1449.1																																																																																			.	.	.	none		0.582	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090080.3	NM_005076	
AHCTF1	25909	hgsc.bcm.edu	37	1	247070995	247070995	+	Missense_Mutation	SNP	C	C	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr1:247070995C>T	ENST00000391829.2	-	5	745	c.622G>A	c.(622-624)Ggg>Agg	p.G208R	AHCTF1_ENST00000366508.1_Missense_Mutation_p.G243R|AHCTF1_ENST00000326225.3_Missense_Mutation_p.G217R			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	208	Necessary for cytoplasmic localization. {ECO:0000250}.|Seven-bladed beta propeller repeats. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			AGATGGCGCCCTTGTCTCATT	0.383																																					p.G217R	Colon(145;197 1800 4745 15099 26333)	Atlas-SNP	.											.	AHCTF1	187	.	0			c.G649A						PASS	.						135.0	127.0	130.0					1																	247070995		2203	4300	6503	SO:0001583	missense	25909	exon5			GGCGCCCTTGTCT		CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.622G>A	chr1.hg19:g.247070995C>T	ENSP00000375705:p.Gly208Arg	62.0	0.0	.		124.0	58.0	.	NM_015446	A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	ENST00000391829.2	hg19		.	.	.	.	.	.	.	.	.	.	C	22.0	4.223797	0.79576	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.20738	2.05;2.05;2.05	5.76	5.76	0.90799	.	0.051494	0.85682	D	0.000000	T	0.26195	0.0639	N	0.19112	0.55	0.58432	D	0.999999	D;D	0.59767	0.986;0.981	P;P	0.56474	0.799;0.706	T	0.00761	-1.1577	10	0.37606	T	0.19	-24.8597	15.7857	0.78300	0.0:0.8645:0.1355:0.0	.	243;208	Q8WYP5-2;Q8WYP5	.;ELYS_HUMAN	R	243;217;208	ENSP00000355464:G243R;ENSP00000355465:G217R;ENSP00000375705:G208R	ENSP00000355465:G217R	G	-	1	0	AHCTF1	245137618	1.000000	0.71417	0.982000	0.44146	0.994000	0.84299	5.686000	0.68211	2.880000	0.98712	0.650000	0.86243	GGG	.	.	.	none		0.383	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446	
OR2L8	391190	hgsc.bcm.edu	37	1	248112473	248112473	+	Missense_Mutation	SNP	C	C	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr1:248112473C>T	ENST00000357191.3	+	1	314	c.314C>T	c.(313-315)gCa>gTa	p.A105V	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	105						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			TTCTTCTTGGCATTAGGAGGT	0.433																																					p.A105V		Atlas-SNP	.											.	OR2L8	92	.	0			c.C314T						PASS	.						335.0	270.0	292.0					1																	248112473		2203	4300	6503	SO:0001583	missense	391190	exon1			TCTTGGCATTAGG	BK004459	CCDS31101.1	1q44	2013-10-10	2013-10-10		ENSG00000196936	ENSG00000196936		"""GPCR / Class A : Olfactory receptors"""	15014	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily L, member 8"""				Standard	NM_001001963		Approved		uc001idt.1	Q8NGY9	OTTHUMG00000040196	ENST00000357191.3:c.314C>T	chr1.hg19:g.248112473C>T	ENSP00000349719:p.Ala105Val	233.0	0.0	.		393.0	140.0	.	NM_001001963	Q6IF03	Missense_Mutation	SNP	ENST00000357191.3	hg19	CCDS31101.1	.	.	.	.	.	.	.	.	.	.	.	8.579	0.881879	0.17467	.	.	ENSG00000196936	ENST00000357191	T	0.00349	7.99	1.64	1.64	0.23874	GPCR, rhodopsin-like superfamily (1);	0.542717	0.13750	U	0.365321	T	0.00178	0.0005	N	0.20483	0.58	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.41805	-0.9488	10	0.87932	D	0	.	3.6931	0.08354	0.0:0.5144:0.0:0.4856	.	105	Q8NGY9	OR2L8_HUMAN	V	105	ENSP00000349719:A105V	ENSP00000349719:A105V	A	+	2	0	OR2L8	246179096	0.000000	0.05858	0.699000	0.30290	0.027000	0.11550	-0.195000	0.09546	0.905000	0.36596	0.479000	0.44913	GCA	.	.	.	none		0.433	OR2L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096853.2		
LPIN1	23175	hgsc.bcm.edu	37	2	11960558	11960558	+	Missense_Mutation	SNP	G	G	C			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr2:11960558G>C	ENST00000256720.2	+	19	2524	c.2431G>C	c.(2431-2433)Gta>Cta	p.V811L	LPIN1_ENST00000396099.1_Missense_Mutation_p.V853L|LPIN1_ENST00000449576.2_Missense_Mutation_p.V896L|LPIN1_ENST00000396097.1_Missense_Mutation_p.V541L|LPIN1_ENST00000404113.2_Missense_Mutation_p.V312L|LPIN1_ENST00000425416.2_Missense_Mutation_p.V817L	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	811	C-LIP.				cellular lipid metabolic process (GO:0044255)|fatty acid catabolic process (GO:0009062)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)|triglyceride mobilization (GO:0006642)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		ATACAAGCAAGTAGGAGTGTC	0.348																																					p.V896L		Atlas-SNP	.											.	LPIN1	99	.	0			c.G2686C						PASS	.						117.0	110.0	112.0					2																	11960558		2203	4300	6503	SO:0001583	missense	23175	exon21			AAGCAAGTAGGAG	D80010	CCDS1682.1, CCDS58699.1, CCDS58700.1, CCDS58701.1	2p25.1	2008-05-23			ENSG00000134324	ENSG00000134324			13345	protein-coding gene	gene with protein product		605518				11138012, 8724849, 16950137	Standard	NM_145693		Approved	KIAA0188	uc010yjm.3	Q14693	OTTHUMG00000119082	ENST00000256720.2:c.2431G>C	chr2.hg19:g.11960558G>C	ENSP00000256720:p.Val811Leu	51.0	0.0	.		74.0	28.0	.	NM_001261428	A8MU38|B4DET9|B4DGS4|B4DGZ6|B5MC18|B7Z858|D6W506|E7ESE7|F5GY24|Q53T25	Missense_Mutation	SNP	ENST00000256720.2	hg19	CCDS1682.1	.	.	.	.	.	.	.	.	.	.	G	35	5.510636	0.96386	.	.	ENSG00000134324	ENST00000449576;ENST00000396099;ENST00000425416;ENST00000256720;ENST00000396097;ENST00000404113	T;T;T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27;-1.27;-1.27	6.02	6.02	0.97574	HAD-like domain (2);LNS2, Lipin/Ned1/Smp2 (2);	0.055717	0.64402	D	0.000001	D	0.90007	0.6880	M	0.87682	2.9	0.80722	D	1	D;D;D	0.64830	0.994;0.988;0.975	D;P;P	0.68039	0.955;0.907;0.883	D	0.90458	0.4444	10	0.87932	D	0	-24.1549	20.5407	0.99260	0.0:0.0:1.0:0.0	.	312;896;811	B4DET9;F5GY24;Q14693	.;.;LPIN1_HUMAN	L	896;853;817;811;541;312	ENSP00000397908:V896L;ENSP00000379406:V853L;ENSP00000401522:V817L;ENSP00000256720:V811L;ENSP00000379404:V541L;ENSP00000386120:V312L	ENSP00000256720:V811L	V	+	1	0	LPIN1	11878009	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.357000	0.97099	2.865000	0.98341	0.655000	0.94253	GTA	.	.	.	none		0.348	LPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239296.3	NM_145693	
LPIN1	23175	hgsc.bcm.edu	37	2	11960560	11960560	+	Silent	SNP	A	A	G			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr2:11960560A>G	ENST00000256720.2	+	19	2526	c.2433A>G	c.(2431-2433)gtA>gtG	p.V811V	LPIN1_ENST00000396099.1_Silent_p.V853V|LPIN1_ENST00000449576.2_Silent_p.V896V|LPIN1_ENST00000396097.1_Silent_p.V541V|LPIN1_ENST00000404113.2_Silent_p.V312V|LPIN1_ENST00000425416.2_Silent_p.V817V	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	811	C-LIP.				cellular lipid metabolic process (GO:0044255)|fatty acid catabolic process (GO:0009062)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)|triglyceride mobilization (GO:0006642)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		ACAAGCAAGTAGGAGTGTCTT	0.348																																					p.V896V		Atlas-SNP	.											.	LPIN1	99	.	0			c.A2688G						PASS	.						118.0	111.0	113.0					2																	11960560		2203	4300	6503	SO:0001819	synonymous_variant	23175	exon21			GCAAGTAGGAGTG	D80010	CCDS1682.1, CCDS58699.1, CCDS58700.1, CCDS58701.1	2p25.1	2008-05-23			ENSG00000134324	ENSG00000134324			13345	protein-coding gene	gene with protein product		605518				11138012, 8724849, 16950137	Standard	NM_145693		Approved	KIAA0188	uc010yjm.3	Q14693	OTTHUMG00000119082	ENST00000256720.2:c.2433A>G	chr2.hg19:g.11960560A>G		50.0	0.0	.		75.0	29.0	.	NM_001261428	A8MU38|B4DET9|B4DGS4|B4DGZ6|B5MC18|B7Z858|D6W506|E7ESE7|F5GY24|Q53T25	Silent	SNP	ENST00000256720.2	hg19	CCDS1682.1																																																																																			.	.	.	none		0.348	LPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239296.3	NM_145693	
KIF3C	3797	hgsc.bcm.edu	37	2	26178417	26178417	+	Missense_Mutation	SNP	A	A	C			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr2:26178417A>C	ENST00000264712.3	-	3	2342	c.1763T>G	c.(1762-1764)cTc>cGc	p.L588R	KIF3C_ENST00000405914.1_Missense_Mutation_p.L588R	NM_002254.6	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C	588					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle transport along microtubule (GO:0072384)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACCTTCTTGAGTTTCTTGGT	0.587																																					p.L588R		Atlas-SNP	.											.	KIF3C	79	.	0			c.T1763G						PASS	.						229.0	186.0	200.0					2																	26178417		2203	4300	6503	SO:0001583	missense	3797	exon3			TTCTTGAGTTTCT		CCDS1719.1	2p23	2008-02-05			ENSG00000084731	ENSG00000084731		"""Kinesins"""	6321	protein-coding gene	gene with protein product		602845				9480755	Standard	NM_002254		Approved		uc002rgu.2	O14782	OTTHUMG00000094797	ENST00000264712.3:c.1763T>G	chr2.hg19:g.26178417A>C	ENSP00000264712:p.Leu588Arg	299.0	0.0	.		155.0	62.0	.	NM_002254	O43544|Q4ZG18|Q53SX5|Q562F7	Missense_Mutation	SNP	ENST00000264712.3	hg19	CCDS1719.1	.	.	.	.	.	.	.	.	.	.	A	18.30	3.593287	0.66219	.	.	ENSG00000084731	ENST00000264712;ENST00000542511;ENST00000405914	T;T	0.78481	-1.18;-1.18	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.81669	0.4871	M	0.92026	3.265	0.80722	D	1	B;B	0.30686	0.095;0.29	B;B	0.28638	0.037;0.092	D	0.83422	0.0033	10	0.72032	D	0.01	.	13.0867	0.59144	1.0:0.0:0.0:0.0	.	588;588	B7ZM25;O14782	.;KIF3C_HUMAN	R	588;394;588	ENSP00000264712:L588R;ENSP00000385030:L588R	ENSP00000264712:L588R	L	-	2	0	KIF3C	26031921	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.119000	0.94362	1.998000	0.58463	0.459000	0.35465	CTC	.	.	.	none		0.587	KIF3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211611.1		
CLIP4	79745	hgsc.bcm.edu	37	2	29379236	29379236	+	Silent	SNP	A	A	G			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr2:29379236A>G	ENST00000320081.5	+	10	1437	c.1182A>G	c.(1180-1182)aaA>aaG	p.K394K	CLIP4_ENST00000401617.2_Silent_p.K287K|CLIP4_ENST00000404424.1_Silent_p.K394K|CLIP4_ENST00000401605.1_Silent_p.K394K	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	394										endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					TGACATCAAAAAAAGATAGTG	0.313																																					p.K394K		Atlas-SNP	.											CLIP4,colon,carcinoma,0,1	CLIP4	69	.	0			c.A1182G						PASS	.						73.0	74.0	74.0					2																	29379236		2203	4298	6501	SO:0001819	synonymous_variant	79745	exon10			ATCAAAAAAAGAT	AK024722	CCDS1770.1, CCDS74502.1	2p23	2013-01-10	2007-01-04	2007-01-04	ENSG00000115295	ENSG00000115295		"""Ankyrin repeat domain containing"""	26108	protein-coding gene	gene with protein product			"""restin-like 2"""	RSNL2			Standard	XM_005264562		Approved	FLJ21069	uc002rmv.3	Q8N3C7	OTTHUMG00000097837	ENST00000320081.5:c.1182A>G	chr2.hg19:g.29379236A>G		22.0	0.0	.		47.0	2.0	.	NM_024692	A0AV10|B2RMQ3|B7Z7N8|Q7Z4U3|Q96BR7|Q96MA5|Q9H7C0	Silent	SNP	ENST00000320081.5	hg19	CCDS1770.1																																																																																			.	.	.	none		0.313	CLIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215123.2	NM_024692	
PLEKHH2	130271	hgsc.bcm.edu	37	2	43953471	43953471	+	Missense_Mutation	SNP	G	G	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr2:43953471G>T	ENST00000282406.4	+	17	2712	c.2602G>T	c.(2602-2604)Gat>Tat	p.D868Y		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	868	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CAGATCTTGTGATTCAGATGA	0.388																																					p.D868Y		Atlas-SNP	.											.	PLEKHH2	156	.	0			c.G2602T						PASS	.						108.0	102.0	104.0					2																	43953471		2203	4300	6503	SO:0001583	missense	130271	exon17			TCTTGTGATTCAG	AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"""Pleckstrin homology (PH) domain containing"""	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.2602G>T	chr2.hg19:g.43953471G>T	ENSP00000282406:p.Asp868Tyr	42.0	0.0	.		74.0	27.0	.	NM_172069	Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	ENST00000282406.4	hg19	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.667945	0.88348	.	.	ENSG00000152527	ENST00000282406	T	0.77750	-1.12	5.57	5.57	0.84162	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.049073	0.85682	D	0.000000	D	0.88887	0.6559	M	0.77313	2.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.991	D	0.89680	0.3890	10	0.87932	D	0	-23.2912	19.5645	0.95388	0.0:0.0:1.0:0.0	.	868;305	Q8IVE3;Q8IVE3-2	PKHH2_HUMAN;.	Y	868	ENSP00000282406:D868Y	ENSP00000282406:D868Y	D	+	1	0	PLEKHH2	43806975	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.386000	0.97228	2.599000	0.87857	0.650000	0.86243	GAT	.	.	.	none		0.388	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	NM_172069	
DNAH6	1768	hgsc.bcm.edu	37	2	84777109	84777109	+	Silent	SNP	A	A	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr2:84777109A>T	ENST00000237449.6	+	8	1421	c.1413A>T	c.(1411-1413)ctA>ctT	p.L471L	DNAH6_ENST00000389394.3_Silent_p.L471L|DNAH6_ENST00000398278.2_Silent_p.L471L			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	471	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						CTGACAAGCTAAAACGAACAC	0.358																																					p.L471L		Atlas-SNP	.											.	DNAH6	194	.	0			c.A1413T						PASS	.						94.0	83.0	87.0					2																	84777109		2203	4300	6503	SO:0001819	synonymous_variant	1768	exon9			CAAGCTAAAACGA	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.1413A>T	chr2.hg19:g.84777109A>T		34.0	0.0	.		66.0	25.0	.	NM_001370	A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Silent	SNP	ENST00000237449.6	hg19	CCDS46348.1																																																																																			.	.	.	none		0.358	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328537.2	NM_001370	
MCM6	4175	hgsc.bcm.edu	37	2	136620201	136620202	+	Missense_Mutation	DNP	CT	CT	AG			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	C|T	C|T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr2:136620201_136620202CT>AG	ENST00000264156.2	-	8	1255_1256	c.1195_1196AG>CT	c.(1195-1197)AGt>CTt	p.S399L	MCM6_ENST00000492091.1_5'UTR	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	399	MCM.				DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)		CTTAGCTGTACTTGGGTCACCA	0.485																																					p.S399I|p.S399R	Ovarian(196;141 2104 8848 24991 25939)	Atlas-SNP	.											.	MCM6	64	.	0			c.G1196T|c.A1195C						PASS	.																																			SO:0001583	missense	4175	exon8			GCTGTACTTGGGT|CTGTACTTGGGTC		CCDS2179.1	2q14-q21	2008-02-05	2007-04-04		ENSG00000076003	ENSG00000076003			6949	protein-coding gene	gene with protein product	"""MIS5 homolog (S.pombe)"""	601806	"""minichromosome maintenance deficient (mis5, S. pombe) 6"", ""MCM6 minichromosome maintenance deficient 6 (MIS5 homolog, S. pombe) (S. cerevisiae)"", ""minichromosome maintenance deficient 6 homolog (S. cerevisiae)"""				Standard	NM_005915		Approved	Mis5	uc002tuw.4	Q14566	OTTHUMG00000131739	ENST00000264156.2:c.1195_1196delinsAG	chr2.hg19:g.136620201_136620202delinsAG	ENSP00000264156:p.Ser399Leu	142.0	0.0	.		180.0|179.0	78.0	.	NM_005915	B2R6H2|Q13504|Q99859	Missense_Mutation	SNP	ENST00000264156.2	hg19	CCDS2179.1																																																																																			.	.	.	none		0.485	MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254658.1	NM_005915	
ATG9A	79065	hgsc.bcm.edu	37	2	220090289	220090289	+	Missense_Mutation	SNP	A	A	C			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr2:220090289A>C	ENST00000409618.1	-	6	657	c.218T>G	c.(217-219)tTc>tGc	p.F73C	AC068946.1_ENST00000408417.1_RNA|ATG9A_ENST00000488833.1_5'Flank|ATG9A_ENST00000361242.4_Missense_Mutation_p.F73C|ATG9A_ENST00000409422.1_Missense_Mutation_p.F12C|ATG9A_ENST00000396761.2_Missense_Mutation_p.F73C			Q7Z3C6	ATG9A_HUMAN	autophagy related 9A	73					autophagic vacuole assembly (GO:0000045)|late nucleophagy (GO:0044805)|mitochondrion degradation (GO:0000422)|piecemeal microautophagy of nucleus (GO:0034727)|protein localization to pre-autophagosomal structure (GO:0034497)|protein transport (GO:0015031)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CACAAAGAGGAACTGCCTGGG	0.532																																					p.F73C		Atlas-SNP	.											.	ATG9A	50	.	0			c.T218G						PASS	.						71.0	74.0	73.0					2																	220090289		2019	4190	6209	SO:0001583	missense	79065	exon6			AAGAGGAACTGCC	AK021732	CCDS42820.1	2q35	2014-02-12	2012-06-06	2005-09-11	ENSG00000198925	ENSG00000198925			22408	protein-coding gene	gene with protein product		612204	"""APG9 autophagy 9-like 1 (S. cerevisiae)"", ""ATG9 autophagy related 9 homolog A (S. cerevisiae)"""	APG9L1			Standard	NM_024085		Approved	FLJ22169	uc002vkf.1	Q7Z3C6	OTTHUMG00000154557	ENST00000409618.1:c.218T>G	chr2.hg19:g.220090289A>C	ENSP00000386710:p.Phe73Cys	63.0	0.0	.		59.0	22.0	.	NM_001077198	Q3ZAQ6|Q6P0N7|Q7Z317|Q7Z320|Q8NDK6|Q8WU65|Q9BVL5|Q9H6L1|Q9HAG7	Missense_Mutation	SNP	ENST00000409618.1	hg19	CCDS42820.1	.	.	.	.	.	.	.	.	.	.	A	17.32	3.360020	0.61403	.	.	ENSG00000198925	ENST00000396761;ENST00000409618;ENST00000361242;ENST00000409422;ENST00000436856;ENST00000457841;ENST00000428226;ENST00000432520;ENST00000439812;ENST00000443140;ENST00000434939	T;T;T;T;T;T;T;T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7	5.05	5.05	0.67936	.	0.057192	0.64402	D	0.000001	T	0.73513	0.3596	M	0.78916	2.43	0.58432	D	0.999995	D	0.58620	0.983	B	0.43783	0.431	T	0.79808	-0.1647	10	0.72032	D	0.01	.	15.2471	0.73513	1.0:0.0:0.0:0.0	.	73	Q7Z3C6	ATG9A_HUMAN	C	73;73;73;12;73;73;73;73;73;73;73	ENSP00000379983:F73C;ENSP00000386710:F73C;ENSP00000355173:F73C;ENSP00000386535:F12C;ENSP00000401530:F73C;ENSP00000404750:F73C;ENSP00000409164:F73C;ENSP00000406785:F73C;ENSP00000413569:F73C;ENSP00000416435:F73C;ENSP00000394345:F73C	ENSP00000355173:F73C	F	-	2	0	ATG9A	219798533	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.040000	0.93783	2.251000	0.74343	0.482000	0.46254	TTC	.	.	.	none		0.532	ATG9A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335930.1	NM_024085	
SPHKAP	80309	hgsc.bcm.edu	37	2	228860230	228860230	+	Silent	SNP	G	G	C			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr2:228860230G>C	ENST00000392056.3	-	8	4675	c.4629C>G	c.(4627-4629)tcC>tcG	p.S1543S	SPHKAP_ENST00000344657.5_Silent_p.S1543S	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1543						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GGTACCTCATGGATCGCTCAC	0.483																																					p.S1543S		Atlas-SNP	.											.	SPHKAP	750	.	0			c.C4629G						PASS	.						226.0	197.0	207.0					2																	228860230		2203	4300	6503	SO:0001819	synonymous_variant	80309	exon8			CCTCATGGATCGC		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.4629C>G	chr2.hg19:g.228860230G>C		298.0	1.0	.		283.0	107.0	.	NM_030623	Q68DA3|Q68DR8|Q9C0I5	Silent	SNP	ENST00000392056.3	hg19	CCDS46537.1																																																																																			.	.	.	none		0.483	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623	
CAMK1	8536	hgsc.bcm.edu	37	3	9802445	9802445	+	Missense_Mutation	SNP	C	C	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr3:9802445C>T	ENST00000256460.3	-	8	817	c.640G>A	c.(640-642)Ggt>Agt	p.G214S	OGG1_ENST00000349503.5_Intron|OGG1_ENST00000302008.8_Intron|OGG1_ENST00000449570.2_Intron|OGG1_ENST00000383826.5_Intron|OGG1_ENST00000302036.7_Intron	NM_003656.4	NP_003647.1	Q14012	KCC1A_HUMAN	calcium/calmodulin-dependent protein kinase I	214	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|nucleocytoplasmic transport (GO:0006913)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of synapse structural plasticity (GO:0051835)|protein phosphorylation (GO:0006468)|regulation of muscle cell differentiation (GO:0051147)|regulation of protein binding (GO:0043393)|regulation of protein localization (GO:0032880)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)	p.G214S(1)		endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		GGAGGGTAACCGCAGAGCCTG	0.552																																					p.G214S		Atlas-SNP	.											CAMK1,NS,carcinoma,0,1	CAMK1	32	.	1	Substitution - Missense(1)	endometrium(1)	c.G640A						PASS	.						82.0	77.0	78.0					3																	9802445		2203	4300	6503	SO:0001583	missense	8536	exon8			GGTAACCGCAGAG	L41816	CCDS2582.1	3p25.3	2004-02-27			ENSG00000134072	ENSG00000134072			1459	protein-coding gene	gene with protein product		604998				7641687	Standard	NM_003656		Approved	CaMKI	uc003bst.3	Q14012	OTTHUMG00000128419	ENST00000256460.3:c.640G>A	chr3.hg19:g.9802445C>T	ENSP00000256460:p.Gly214Ser	76.0	0.0	.		46.0	22.0	.	NM_003656	Q3KPF6	Missense_Mutation	SNP	ENST00000256460.3	hg19	CCDS2582.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.258485|5.258485	0.95368|0.95368	.|.	.|.	ENSG00000134072|ENSG00000134072	ENST00000256460|ENST00000421120	T|.	0.58210|.	0.35|.	5.13|5.13	5.13|5.13	0.70059|0.70059	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|.	D|D	0.82962|0.82962	0.5151|0.5151	M|M	0.87269|0.87269	2.87|2.87	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.80764|.	0.994|.	D|D	0.85554|0.85554	0.1223|0.1223	10|5	0.87932|.	D|.	0|.	-14.0937|-14.0937	17.3689|17.3689	0.87371|0.87371	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	214|.	Q14012|.	KCC1A_HUMAN|.	S|Q	214|60	ENSP00000256460:G214S|.	ENSP00000256460:G214S|.	G|R	-|-	1|2	0|0	CAMK1|CAMK1	9777445|9777445	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.793000|0.793000	0.44817|0.44817	7.648000|7.648000	0.83479|0.83479	2.384000|2.384000	0.81235|0.81235	0.655000|0.655000	0.94253|0.94253	GGT|CGG	.	.	.	none		0.552	CAMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250206.1	NM_003656	
ARIH2OS	646450	hgsc.bcm.edu	37	3	48956091	48956091	+	Silent	SNP	T	T	A			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr3:48956091T>A	ENST00000408959.2	-	1	727	c.492A>T	c.(490-492)ccA>ccT	p.P164P	ARIH2_ENST00000356401.4_5'Flank|ARIH2_ENST00000449376.1_5'Flank	NM_001123040.1	NP_001116512.1	Q8N7S6	ARI2O_HUMAN	ariadne homolog 2 opposite strand	164						integral component of membrane (GO:0016021)											CGGGAGACGCTGGTAGGCGAA	0.587																																					p.P164P		Atlas-SNP	.											.	.	.	.	0			c.A492T						PASS	.						47.0	49.0	49.0					3																	48956091		1568	3582	5150	SO:0001819	synonymous_variant	646450	exon1			AGACGCTGGTAGG	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.492A>T	chr3.hg19:g.48956091T>A		100.0	0.0	.		58.0	34.0	.	NM_001123040		Silent	SNP	ENST00000408959.2	hg19	CCDS43088.1																																																																																			.	.	.	none		0.587	ARIH2OS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345247.1	NM_001123040	
ARHGEF3	50650	hgsc.bcm.edu	37	3	56789065	56789065	+	Missense_Mutation	SNP	T	T	A			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr3:56789065T>A	ENST00000296315.3	-	3	487	c.319A>T	c.(319-321)Acc>Tcc	p.T107S	ARHGEF3_ENST00000496106.1_Missense_Mutation_p.T113S|ARHGEF3_ENST00000498517.1_5'UTR|ARHGEF3_ENST00000495373.1_Missense_Mutation_p.T107S|ARHGEF3_ENST00000413728.2_Missense_Mutation_p.T113S|ARHGEF3_ENST00000497267.1_Missense_Mutation_p.T78S|ARHGEF3_ENST00000338458.4_Missense_Mutation_p.T139S	NM_019555.2	NP_062455.1	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor (GEF) 3	107					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		ACATCGAAGGTCTCACTCCAC	0.587																																					p.T139S		Atlas-SNP	.											.	ARHGEF3	128	.	0			c.A415T						PASS	.						165.0	147.0	153.0					3																	56789065		2203	4300	6503	SO:0001583	missense	50650	exon6			CGAAGGTCTCACT	AB209661	CCDS2878.1, CCDS46854.1, CCDS46855.1, CCDS74948.1	3p14.3	2012-09-20			ENSG00000163947	ENSG00000163947		"""Rho guanine nucleotide exchange factors"""	683	protein-coding gene	gene with protein product	"""exchange factor found in platelets and leukemic and neuronal tissues, XPLN"", ""RhoGEF protein"""	612115				10873612	Standard	NM_019555		Approved	STA3, XPLN, GEF3, DKFZP434F2429	uc003dih.2	Q9NR81	OTTHUMG00000158857	ENST00000296315.3:c.319A>T	chr3.hg19:g.56789065T>A	ENSP00000296315:p.Thr107Ser	267.0	1.0	.		184.0	87.0	.	NM_001128615	A8K5U7|Q4FZB6|Q4QQI5|Q4QQQ0|Q59F00|Q6NUN3|Q7Z4U2|Q7Z5T2|Q9H7T4	Missense_Mutation	SNP	ENST00000296315.3	hg19	CCDS2878.1	.	.	.	.	.	.	.	.	.	.	T	35	5.460720	0.96240	.	.	ENSG00000163947	ENST00000296315;ENST00000338458;ENST00000413728;ENST00000496106;ENST00000497267;ENST00000495373;ENST00000468727;ENST00000473779	T;T;T;T;T;T;T;T	0.67345	1.6;1.6;1.6;1.6;1.6;1.6;-0.26;-0.26	5.32	5.32	0.75619	Dbl homology (DH) domain (1);	0.000000	0.85682	D	0.000000	T	0.79476	0.4452	M	0.74881	2.28	0.54753	D	0.999988	D;P;P;D;D;D	0.58268	0.969;0.938;0.882;0.982;0.982;0.982	P;P;P;P;P;P	0.60682	0.798;0.628;0.55;0.878;0.855;0.878	T	0.81760	-0.0785	10	0.59425	D	0.04	-11.4376	15.6104	0.76713	0.0:0.0:0.0:1.0	.	113;78;107;139;107;113	E9PG37;E7EU49;C9J586;Q9NR81-2;Q9NR81;Q9NR81-3	.;.;.;.;ARHG3_HUMAN;.	S	107;139;113;113;78;107;108;125	ENSP00000296315:T107S;ENSP00000341071:T139S;ENSP00000410922:T113S;ENSP00000420420:T113S;ENSP00000418826:T78S;ENSP00000417986:T107S;ENSP00000417087:T108S;ENSP00000420402:T125S	ENSP00000296315:T107S	T	-	1	0	ARHGEF3	56764105	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.991000	0.88244	2.156000	0.67533	0.533000	0.62120	ACC	.	.	.	none		0.587	ARHGEF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352431.2	NM_019555	
RNF13	11342	hgsc.bcm.edu	37	3	149678575	149678575	+	Missense_Mutation	SNP	C	C	G			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr3:149678575C>G	ENST00000344229.3	+	11	1532	c.830C>G	c.(829-831)aCc>aGc	p.T277S	RNF13_ENST00000361785.6_Missense_Mutation_p.T158S|RNF13_ENST00000392894.3_Missense_Mutation_p.T277S	NM_007282.4	NP_009213.1	O43567	RNF13_HUMAN	ring finger protein 13	277					protein autoubiquitination (GO:0051865)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	11		all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			ACCAAAAAAACCTGTCCAGTG	0.398																																					p.T277S		Atlas-SNP	.											.	RNF13	57	.	0			c.C830G						PASS	.						67.0	66.0	66.0					3																	149678575		2203	4300	6503	SO:0001583	missense	11342	exon11			AAAAAACCTGTCC	AF037204	CCDS3146.1	3q25.1	2013-01-09			ENSG00000082996	ENSG00000082996		"""RING-type (C3HC4) zinc fingers"""	10057	protein-coding gene	gene with protein product		609247					Standard	NM_183381		Approved	RZF	uc003exp.4	O43567	OTTHUMG00000150338	ENST00000344229.3:c.830C>G	chr3.hg19:g.149678575C>G	ENSP00000341361:p.Thr277Ser	61.0	0.0	.		69.0	24.0	.	NM_007282	A6NC87|B3KR12|Q05D66|Q6IBJ9	Missense_Mutation	SNP	ENST00000344229.3	hg19	CCDS3146.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.38|17.38	3.374025|3.374025	0.61735|0.61735	.|.	.|.	ENSG00000082996|ENSG00000082996	ENST00000468289|ENST00000392894;ENST00000344229;ENST00000491086;ENST00000543506;ENST00000361785;ENST00000482083	.|T;T;T;T;T	.|0.41065	.|1.01;1.01;1.01;1.01;1.01	6.06|6.06	6.06|6.06	0.98353|0.98353	.|Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.46852|0.46852	0.1414|0.1414	L|L	0.32530|0.32530	0.975|0.975	0.80722|0.80722	D|D	1|1	.|B;P	.|0.38565	.|0.213;0.637	.|B;P	.|0.46452	.|0.193;0.517	T|T	0.19745|0.19745	-1.0296|-1.0296	5|10	.|0.41790	.|T	.|0.15	-20.7775|-20.7775	20.6397|20.6397	0.99537|0.99537	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|158;277	.|B3KR12;O43567	.|.;RNF13_HUMAN	K|S	78|277;277;158;277;158;158	.|ENSP00000376628:T277S;ENSP00000341361:T277S;ENSP00000420667:T158S;ENSP00000355268:T158S;ENSP00000418863:T158S	.|ENSP00000341361:T277S	N|T	+|+	3|2	2|0	RNF13|RNF13	151161265|151161265	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.487000|7.487000	0.81328|0.81328	2.880000|2.880000	0.98712|0.98712	0.650000|0.650000	0.86243|0.86243	AAC|ACC	.	.	.	none		0.398	RNF13-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356876.1	NM_183384	
GABRA2	2555	hgsc.bcm.edu	37	4	46312218	46312218	+	Silent	SNP	A	A	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr4:46312218A>T	ENST00000510861.1	-	6	704	c.531T>A	c.(529-531)gcT>gcA	p.A177A	GABRA2_ENST00000540012.1_Silent_p.A122A|GABRA2_ENST00000514090.1_Silent_p.A177A|GABRA2_ENST00000356504.1_Silent_p.A177A|GABRA2_ENST00000507069.1_Silent_p.A177A|GABRA2_ENST00000381620.4_Silent_p.A177A|GABRA2_ENST00000515082.1_Silent_p.A177A			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	177					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter levels (GO:0001505)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of synaptic vesicle membrane (GO:0030285)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|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)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	GACATGAATGAGCATCCATTG	0.388																																					p.A177A		Atlas-SNP	.											.	GABRA2	134	.	0			c.T531A						PASS	.						135.0	130.0	132.0					4																	46312218		2203	4300	6503	SO:0001819	synonymous_variant	2555	exon6			TGAATGAGCATCC		CCDS3471.1	4p12	2012-06-22			ENSG00000151834	ENSG00000151834		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4076	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 2"""	137140					Standard	NM_000807		Approved		uc010igc.2	P47869	OTTHUMG00000044266	ENST00000510861.1:c.531T>A	chr4.hg19:g.46312218A>T		67.0	0.0	.		125.0	52.0	.	NM_000807	A8K0U7|B7Z1H8|Q59G14	Silent	SNP	ENST00000510861.1	hg19	CCDS3471.1																																																																																			.	.	.	none		0.388	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360848.2		
GALNTL6	442117	hgsc.bcm.edu	37	4	173269759	173269759	+	Missense_Mutation	SNP	C	C	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr4:173269759C>T	ENST00000506823.1	+	5	1129	c.472C>T	c.(472-474)Cgg>Tgg	p.R158W	GALNTL6_ENST00000457021.1_3'UTR|GALNTL6_ENST00000508122.1_Missense_Mutation_p.R141W	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 6	158	Catalytic subdomain A.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						TTCACTCCTGCGGACCATACA	0.428																																					p.R158W		Atlas-SNP	.											.	GALNTL6	102	.	0			c.C472T						PASS	.						141.0	132.0	135.0					4																	173269759		2203	4300	6503	SO:0001583	missense	442117	exon5			CTCCTGCGGACCA		CCDS34104.1	4q34.1	2014-03-13	2014-03-13		ENSG00000174473	ENSG00000174473		"""Glycosyltransferase family 2 domain containing"""	33844	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase-like 6"""	615138	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6"""				Standard	NM_001034845		Approved	GALNT17, GalNAc-T6L	uc003isv.3	Q49A17	OTTHUMG00000160807	ENST00000506823.1:c.472C>T	chr4.hg19:g.173269759C>T	ENSP00000423313:p.Arg158Trp	73.0	0.0	.		171.0	88.0	.	NM_001034845	Q2L4S6	Missense_Mutation	SNP	ENST00000506823.1	hg19	CCDS34104.1	.	.	.	.	.	.	.	.	.	.	C	17.39	3.376971	0.61735	.	.	ENSG00000174473	ENST00000506823;ENST00000404275;ENST00000508122	T;T	0.63913	-0.07;-0.07	5.38	1.32	0.21799	Glycosyl transferase, family 2 (1);	0.730958	0.11188	N	0.590274	D	0.88228	0.6380	H	0.99425	4.56	0.48341	D	0.999638	D	0.89917	1.0	D	0.97110	1.0	D	0.89622	0.3849	10	0.87932	D	0	.	14.8011	0.69916	0.6209:0.3791:0.0:0.0	.	158	Q49A17	GLTL6_HUMAN	W	158;158;141	ENSP00000423313:R158W;ENSP00000423827:R141W	ENSP00000385382:R158W	R	+	1	2	GALNTL6	173506334	0.987000	0.35691	1.000000	0.80357	0.979000	0.70002	0.342000	0.19926	0.212000	0.20703	-0.470000	0.05040	CGG	.	.	.	none		0.428	GALNTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362395.1	NM_001034845	
SLC9A3	6550	hgsc.bcm.edu	37	5	476140	476140	+	Missense_Mutation	SNP	T	T	A			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr5:476140T>A	ENST00000264938.3	-	14	2144	c.2135A>T	c.(2134-2136)gAg>gTg	p.E712V	CTD-2228K2.7_ENST00000607286.1_RNA|CTD-2228K2.7_ENST00000607005.1_RNA|CTD-2228K2.7_ENST00000606288.1_RNA|CTD-2228K2.7_ENST00000606319.1_RNA|CTD-2228K2.5_ENST00000342584.3_5'Flank|SLC9A3_ENST00000514375.1_Missense_Mutation_p.E703V	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	712					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|sodium:proton antiporter activity (GO:0015385)			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			CGCACCTTTCTCCTTGATGGT	0.642																																					p.E712V		Atlas-SNP	.											.	SLC9A3	89	.	0			c.A2135T						PASS	.						24.0	26.0	25.0					5																	476140		2203	4300	6503	SO:0001583	missense	6550	exon14			CCTTTCTCCTTGA		CCDS3855.1, CCDS64116.1	5p15.3	2013-05-22	2012-03-22		ENSG00000066230	ENSG00000066230		"""Solute carriers"""	11073	protein-coding gene	gene with protein product		182307	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 3"""	NHE3		8096830	Standard	NM_004174		Approved		uc003jbe.2	P48764	OTTHUMG00000090315	ENST00000264938.3:c.2135A>T	chr5.hg19:g.476140T>A	ENSP00000264938:p.Glu712Val	77.0	0.0	.		24.0	9.0	.	NM_004174	B7ZKR2|E9PF67|Q3MIW3	Missense_Mutation	SNP	ENST00000264938.3	hg19	CCDS3855.1	.	.	.	.	.	.	.	.	.	.	T	9.100	1.003901	0.19199	.	.	ENSG00000066230	ENST00000264938;ENST00000514375	T;T	0.72942	-0.7;-0.7	3.93	3.93	0.45458	.	11.221700	0.00508	N	0.000168	T	0.70360	0.3215	M	0.64997	1.995	0.30953	N	0.724513	B;P	0.35433	0.222;0.501	B;B	0.35470	0.059;0.203	T	0.57470	-0.7806	10	0.25106	T	0.35	.	9.4489	0.38714	0.0:0.0:0.0:1.0	.	703;712	E9PF67;P48764	.;SL9A3_HUMAN	V	712;703	ENSP00000264938:E712V;ENSP00000422983:E703V	ENSP00000264938:E712V	E	-	2	0	SLC9A3	529140	0.009000	0.17119	0.998000	0.56505	0.230000	0.25150	0.875000	0.28079	1.565000	0.49641	0.155000	0.16302	GAG	.	.	.	none		0.642	SLC9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206677.2	NM_004174	
ADAMTS16	170690	hgsc.bcm.edu	37	5	5235155	5235155	+	Missense_Mutation	SNP	G	G	C			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr5:5235155G>C	ENST00000274181.7	+	13	2017	c.1879G>C	c.(1879-1881)Ggc>Cgc	p.G627R	ADAMTS16_ENST00000513709.1_3'UTR	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	627	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GTTCTGTGAGGGCTCCACTCG	0.443																																					p.G627R		Atlas-SNP	.											.	ADAMTS16	543	.	0			c.G1879C						PASS	.						66.0	69.0	68.0					5																	5235155		1926	4118	6044	SO:0001583	missense	170690	exon13			TGTGAGGGCTCCA	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.1879G>C	chr5.hg19:g.5235155G>C	ENSP00000274181:p.Gly627Arg	126.0	0.0	.		81.0	34.0	.	NM_139056	C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	hg19	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	G	17.23	3.337693	0.60963	.	.	ENSG00000145536	ENST00000274181;ENST00000536857	T	0.09163	3.01	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.54886	0.1886	H	0.99565	4.63	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.76984	-0.2756	10	0.72032	D	0.01	.	17.2614	0.87071	0.0:0.0:1.0:0.0	.	627;627	Q8TE57;Q8TE57-2	ATS16_HUMAN;.	R	627	ENSP00000274181:G627R	ENSP00000274181:G627R	G	+	1	0	ADAMTS16	5288155	1.000000	0.71417	0.963000	0.40424	0.056000	0.15407	9.323000	0.96364	2.446000	0.82766	0.655000	0.94253	GGC	.	.	.	none		0.443	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056	
IL7R	3575	hgsc.bcm.edu	37	5	35876145	35876145	+	Missense_Mutation	SNP	G	G	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr5:35876145G>T	ENST00000303115.3	+	8	1066	c.937G>T	c.(937-939)Gac>Tac	p.D313Y	IL7R_ENST00000343305.4_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	313					B cell proliferation (GO:0042100)|cell growth (GO:0016049)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|immune response (GO:0006955)|immunoglobulin production (GO:0002377)|interleukin-7-mediated signaling pathway (GO:0038111)|lymph node development (GO:0048535)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of gene expression (GO:0010628)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of cell size (GO:0008361)|regulation of DNA recombination (GO:0000018)|signal transduction (GO:0007165)|T cell differentiation (GO:0030217)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|interleukin-7 receptor activity (GO:0004917)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			TAGGGTGGATGACATTCAAGC	0.438			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency																														p.D313Y		Atlas-SNP	.		Dom	yes		5	5p13	146661	interleukin 7 receptor	yes	L	.	IL7R	200	.	0			c.G937T						PASS	.						89.0	84.0	85.0					5																	35876145		2203	4300	6503	SO:0001583	missense	3575	exon8			GTGGATGACATTC	M29696	CCDS3911.1	5p13	2014-09-17			ENSG00000168685	ENSG00000168685		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6024	protein-coding gene	gene with protein product		146661				2317865	Standard	NM_002185		Approved	CD127	uc003jjs.4	P16871	OTTHUMG00000090791	ENST00000303115.3:c.937G>T	chr5.hg19:g.35876145G>T	ENSP00000306157:p.Asp313Tyr	62.0	0.0	.		87.0	37.0	.	NM_002185	B2RCS6|B4DVT1|Q05CU8|Q6NSP4|Q6NWM0|Q6NWM1|Q6NWM2|Q6NWM3|Q6SV45|Q9UPC1	Missense_Mutation	SNP	ENST00000303115.3	hg19	CCDS3911.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.199424	0.79015	.	.	ENSG00000168685	ENST00000303115;ENST00000505875	T;T	0.35421	1.9;1.31	6.06	6.06	0.98353	.	0.458345	0.25467	N	0.030468	T	0.30854	0.0778	N	0.14661	0.345	0.80722	D	1	D	0.56521	0.976	P	0.46975	0.533	T	0.09885	-1.0654	10	0.72032	D	0.01	-1.5157	16.1283	0.81408	0.0:0.0:1.0:0.0	.	313	P16871	IL7RA_HUMAN	Y	313;79	ENSP00000306157:D313Y;ENSP00000420923:D79Y	ENSP00000306157:D313Y	D	+	1	0	IL7R	35911902	1.000000	0.71417	0.998000	0.56505	0.961000	0.63080	3.729000	0.54999	2.871000	0.98454	0.655000	0.94253	GAC	.	.	.	none		0.438	IL7R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207577.2		
PPIC	5480	hgsc.bcm.edu	37	5	122359696	122359696	+	Silent	SNP	T	T	A			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr5:122359696T>A	ENST00000306442.4	-	5	628	c.513A>T	c.(511-513)acA>acT	p.T171T	RN7SL689P_ENST00000577215.1_RNA	NM_000943.4	NP_000934.1	P45877	PPIC_HUMAN	peptidylprolyl isomerase C (cyclophilin C)	171	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				protein folding (GO:0006457)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	6		all_cancers(142;0.0168)|Prostate(80;0.0322)|Lung NSC(810;0.102)|all_lung(232;0.163)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000331)|Epithelial(69;0.000553)|all cancers(49;0.00505)	L-Proline(DB00172)	AGTGCACCACTGTCTGGTGAG	0.478																																					p.T171T	Ovarian(99;690 1502 20765 45543 49568)	Atlas-SNP	.											.	PPIC	18	.	0			c.A513T						PASS	.						203.0	187.0	192.0					5																	122359696		2203	4300	6503	SO:0001819	synonymous_variant	5480	exon5			CACCACTGTCTGG	S71018	CCDS4133.1	5q23.2	2008-02-05			ENSG00000168938	ENSG00000168938	5.2.1.8		9256	protein-coding gene	gene with protein product		123842				1383094, 8031755	Standard	NM_000943		Approved	CYPC	uc003kth.3	P45877	OTTHUMG00000128921	ENST00000306442.4:c.513A>T	chr5.hg19:g.122359696T>A		177.0	0.0	.		188.0	76.0	.	NM_000943	A4LBB5	Silent	SNP	ENST00000306442.4	hg19	CCDS4133.1																																																																																			.	.	.	none		0.478	PPIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250898.2	NM_000943	
PCDHA8	56140	hgsc.bcm.edu	37	5	140223201	140223201	+	Silent	SNP	G	G	A			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr5:140223201G>A	ENST00000531613.1	+	1	2295	c.2295G>A	c.(2293-2295)ccG>ccA	p.P765P	PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000378123.3_Silent_p.P765P|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	765					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)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGGGCCACCGAAGACGGACC	0.592																																					p.P765P		Atlas-SNP	.											.	PCDHA8	366	.	0			c.G2295A						PASS	.						59.0	60.0	60.0					5																	140223201		2196	4262	6458	SO:0001819	synonymous_variant	56140	exon1			GCCACCGAAGACG	AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"""Cadherins / Protocadherins : Clustered"""	8674	other	complex locus constituent	"""KIAA0345-like 6"""	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.2295G>A	chr5.hg19:g.140223201G>A		64.0	0.0	.		40.0	32.0	.	NM_031856	B9EGT7|O75281	Silent	SNP	ENST00000531613.1	hg19	CCDS54919.1																																																																																			.	.	.	none		0.592	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911	
PCDHGA12	26025	hgsc.bcm.edu	37	5	140811805	140811805	+	Silent	SNP	G	G	A			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr5:140811805G>A	ENST00000252085.3	+	1	1621	c.1479G>A	c.(1477-1479)gaG>gaA	p.E493E	PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	493	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)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCTGGCTGAGAACACCATCC	0.557																																					p.E493E		Atlas-SNP	.											.	PCDHGA12	271	.	0			c.G1479A						PASS	.						75.0	81.0	79.0					5																	140811805		2203	4300	6503	SO:0001819	synonymous_variant	26025	exon1			GGCTGAGAACACC	AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"""Cadherins / Protocadherins : Clustered"""	8699	other	protocadherin	"""fibroblast cadherin FIB3"""	603059	"""cadherin 21"""	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.1479G>A	chr5.hg19:g.140811805G>A		161.0	0.0	.		87.0	36.0	.	NM_032094	O15100|Q6UW70|Q9Y5D7	Silent	SNP	ENST00000252085.3	hg19	CCDS4260.1																																																																																			.	.	.	none		0.557	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	NM_003735	
LARP1	23367	hgsc.bcm.edu	37	5	154183178	154183178	+	Missense_Mutation	SNP	T	T	A			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr5:154183178T>A	ENST00000336314.4	+	13	2105	c.2081T>A	c.(2080-2082)gTc>gAc	p.V694D		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	771					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)			CCAACCACTGTCCCAGAGTCA	0.582																																					p.V694D		Atlas-SNP	.											.	LARP1	187	.	0			c.T2081A						PASS	.						153.0	132.0	139.0					5																	154183178		2203	4300	6503	SO:0001583	missense	23367	exon13			CCACTGTCCCAGA	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.2081T>A	chr5.hg19:g.154183178T>A	ENSP00000336721:p.Val694Asp	98.0	0.0	.		64.0	29.0	.	NM_015315	O94836|Q8N4M2|Q8NB73|Q9UFD7	Missense_Mutation	SNP	ENST00000336314.4	hg19	CCDS4328.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.11|18.11	3.551818|3.551818	0.65311|0.65311	.|.	.|.	ENSG00000155506|ENSG00000155506	ENST00000518677|ENST00000336314;ENST00000518297;ENST00000524248	.|T;T;T	.|0.38240	.|1.67;1.15;1.22	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.59459|0.59459	0.2195|0.2195	M|M	0.72118|0.72118	2.19|2.19	0.80722|0.80722	D|D	1|1	.|D;D	.|0.71674	.|0.997;0.998	.|D;D	.|0.74348	.|0.92;0.983	T|T	0.60551|0.60551	-0.7241|-0.7241	5|10	.|0.48119	.|T	.|0.1	-16.9963|-16.9963	15.9212|15.9212	0.79575|0.79575	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|771;694	.|Q6PKG0;Q6PKG0-3	.|LARP1_HUMAN;.	T|D	85|694;771;566	.|ENSP00000336721:V694D;ENSP00000428589:V771D;ENSP00000429904:V566D	.|ENSP00000336721:V694D	S|V	+|+	1|2	0|0	LARP1|LARP1	154163371|154163371	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.186000|0.186000	0.23388|0.23388	7.633000|7.633000	0.83260|0.83260	2.155000|2.155000	0.67459|0.67459	0.460000|0.460000	0.39030|0.39030	TCC|GTC	.	.	.	none		0.582	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1	NM_033551	
PANK3	79646	hgsc.bcm.edu	37	5	167995656	167995656	+	Missense_Mutation	SNP	G	G	A			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr5:167995656G>A	ENST00000239231.6	-	2	692	c.376C>T	c.(376-378)Cgc>Tgc	p.R126C	PANK3_ENST00000520504.1_5'Flank	NM_024594.3	NP_078870.1	Q9H999	PANK3_HUMAN	pantothenate kinase 3	126					coenzyme A biosynthetic process (GO:0015937)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)	p.R126C(1)		NS(1)|cervix(2)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188)		CCTACTGTGCGAAAATCTTTT	0.373																																					p.R126C		Atlas-SNP	.											PANK3,NS,carcinoma,0,2	PANK3	39	.	1	Substitution - Missense(1)	cervix(1)	c.C376T						PASS	.						80.0	77.0	78.0					5																	167995656		2203	4300	6503	SO:0001583	missense	79646	exon2			CTGTGCGAAAATC	AK022961	CCDS4368.1	5q35.1	2008-02-05			ENSG00000120137	ENSG00000120137			19365	protein-coding gene	gene with protein product		606161				11479594	Standard	NM_024594		Approved	FLJ12899	uc003lzz.2	Q9H999	OTTHUMG00000130410	ENST00000239231.6:c.376C>T	chr5.hg19:g.167995656G>A	ENSP00000239231:p.Arg126Cys	71.0	0.0	.		102.0	36.0	.	NM_024594	D3DQL1|Q53FJ9|Q7RTX4	Missense_Mutation	SNP	ENST00000239231.6	hg19	CCDS4368.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.021887	0.75275	.	.	ENSG00000120137	ENST00000239231;ENST00000522176	D;D	0.99582	-6.22;-6.22	5.81	5.81	0.92471	.	0.045054	0.85682	D	0.000000	D	0.99387	0.9784	M	0.72118	2.19	0.80722	D	1	D	0.61697	0.99	P	0.54856	0.762	D	0.99429	1.0935	10	0.54805	T	0.06	-7.4746	19.0666	0.93114	0.0:0.0:1.0:0.0	.	126	Q9H999	PANK3_HUMAN	C	126;111	ENSP00000239231:R126C;ENSP00000428631:R111C	ENSP00000239231:R126C	R	-	1	0	PANK3	167928234	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	5.446000	0.66600	2.736000	0.93811	0.655000	0.94253	CGC	.	.	.	none		0.373	PANK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252793.2	NM_024594	
DHX16	8449	hgsc.bcm.edu	37	6	30640454	30640454	+	Silent	SNP	G	G	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr6:30640454G>T	ENST00000376442.3	-	1	360	c.165C>A	c.(163-165)ctC>ctA	p.L55L		NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	55					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			kidney(2)|ovary(2)	4						CCGGCCCACTGAGATCCAAGG	0.652																																					p.L55L		Atlas-SNP	.											.	DHX16	119	.	0			c.C165A						PASS	.						51.0	54.0	53.0					6																	30640454		1508	2709	4217	SO:0001819	synonymous_variant	8449	exon1			CCCACTGAGATCC	AB001601	CCDS4685.1	6p21.3	2010-02-17	2003-06-13	2003-06-20	ENSG00000204560	ENSG00000204560		"""DEAH-boxes"""	2739	protein-coding gene	gene with protein product		603405	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 16"""	DDX16		9547260	Standard	NM_003587		Approved	DBP2, Prp2, PRPF2	uc003nqz.3	O60231	OTTHUMG00000031060	ENST00000376442.3:c.165C>A	chr6.hg19:g.30640454G>T		174.0	0.0	.		66.0	24.0	.	NM_003587	O60322|Q5JP45|Q969X7|Q96QC1	Silent	SNP	ENST00000376442.3	hg19	CCDS4685.1																																																																																			.	.	.	none		0.652	DHX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076076.2	NM_003587	
DHX16	8449	hgsc.bcm.edu	37	6	30640464	30640464	+	Missense_Mutation	SNP	G	G	T	rs375439029		TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr6:30640464G>T	ENST00000376442.3	-	1	350	c.155C>A	c.(154-156)aCc>aAc	p.T52N		NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	52					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			kidney(2)|ovary(2)	4						GAGATCCAAGGTATCAGTGTC	0.647																																					p.T52N		Atlas-SNP	.											.	DHX16	119	.	0			c.C155A						PASS	.						52.0	55.0	54.0					6																	30640464		1509	2709	4218	SO:0001583	missense	8449	exon1			TCCAAGGTATCAG	AB001601	CCDS4685.1	6p21.3	2010-02-17	2003-06-13	2003-06-20	ENSG00000204560	ENSG00000204560		"""DEAH-boxes"""	2739	protein-coding gene	gene with protein product		603405	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 16"""	DDX16		9547260	Standard	NM_003587		Approved	DBP2, Prp2, PRPF2	uc003nqz.3	O60231	OTTHUMG00000031060	ENST00000376442.3:c.155C>A	chr6.hg19:g.30640464G>T	ENSP00000365625:p.Thr52Asn	177.0	0.0	.		70.0	23.0	.	NM_003587	O60322|Q5JP45|Q969X7|Q96QC1	Missense_Mutation	SNP	ENST00000376442.3	hg19	CCDS4685.1	.	.	.	.	.	.	.	.	.	.	G	14.67	2.604490	0.46423	.	.	ENSG00000204560	ENST00000376442	T	0.02709	4.19	4.61	4.61	0.57282	.	0.054721	0.64402	D	0.000001	T	0.01661	0.0053	L	0.52364	1.645	0.80722	D	1	P	0.41673	0.759	B	0.37267	0.245	T	0.63844	-0.6545	10	0.17832	T	0.49	.	16.3585	0.83245	0.0:0.0:1.0:0.0	.	52	O60231	DHX16_HUMAN	N	52	ENSP00000365625:T52N	ENSP00000365625:T52N	T	-	2	0	DHX16	30748443	1.000000	0.71417	0.876000	0.34364	0.601000	0.36947	7.517000	0.81783	2.395000	0.81488	0.400000	0.26472	ACC	.	.	.	alt		0.647	DHX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076076.2	NM_003587	
MDN1	23195	hgsc.bcm.edu	37	6	90426453	90426453	+	Missense_Mutation	SNP	C	C	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr6:90426453C>T	ENST00000369393.3	-	44	6774	c.6659G>A	c.(6658-6660)gGc>gAc	p.G2220D	MDN1_ENST00000428876.1_Missense_Mutation_p.G2220D			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2220					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)		TTCAAATGTGCCATGGCTATG	0.473																																					p.G2220D		Atlas-SNP	.											.	MDN1	478	.	0			c.G6659A						PASS	.						114.0	95.0	101.0					6																	90426453		2203	4300	6503	SO:0001583	missense	23195	exon44			AATGTGCCATGGC	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.6659G>A	chr6.hg19:g.90426453C>T	ENSP00000358400:p.Gly2220Asp	73.0	0.0	.		94.0	38.0	.	NM_014611	O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	hg19	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	C	19.83	3.900696	0.72754	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.58210	0.35;0.35	5.35	5.35	0.76521	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.000000	0.85682	D	0.000000	T	0.75428	0.3848	M	0.91768	3.24	0.80722	D	1	D	0.69078	0.997	D	0.77004	0.989	T	0.77640	-0.2512	10	0.42905	T	0.14	.	19.4391	0.94811	0.0:1.0:0.0:0.0	.	2220	Q9NU22	MDN1_HUMAN	D	2220	ENSP00000358400:G2220D;ENSP00000413970:G2220D	ENSP00000358400:G2220D	G	-	2	0	MDN1	90483174	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	7.600000	0.82769	2.660000	0.90430	0.557000	0.71058	GGC	.	.	.	none		0.473	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2		
SIM1	6492	hgsc.bcm.edu	37	6	100895187	100895187	+	Missense_Mutation	SNP	A	A	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr6:100895187A>T	ENST00000369208.3	-	9	1737	c.955T>A	c.(955-957)Tcc>Acc	p.S319T	SIM1_ENST00000262901.4_Missense_Mutation_p.S319T			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	319	PAC.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GGCCTGGAGGAGCGACTGTTG	0.597																																					p.S319T		Atlas-SNP	.											.	SIM1	173	.	0			c.T955A						PASS	.						165.0	123.0	137.0					6																	100895187		2203	4300	6503	SO:0001583	missense	6492	exon8			TGGAGGAGCGACT	U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.955T>A	chr6.hg19:g.100895187A>T	ENSP00000358210:p.Ser319Thr	100.0	0.0	.		59.0	22.0	.	NM_005068	Q5TDP7	Missense_Mutation	SNP	ENST00000369208.3	hg19	CCDS5045.1	.	.	.	.	.	.	.	.	.	.	A	26.8	4.772481	0.90108	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	T;T	0.16457	2.34;2.34	6.17	6.17	0.99709	PAS fold-3 (1);	0.000000	0.85682	D	0.000000	T	0.23766	0.0575	L	0.39085	1.19	0.58432	D	0.999999	D	0.76494	0.999	D	0.73380	0.98	T	0.01273	-1.1399	10	0.49607	T	0.09	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	319	P81133	SIM1_HUMAN	T	319	ENSP00000358210:S319T;ENSP00000262901:S319T	ENSP00000262901:S319T	S	-	1	0	SIM1	101001908	1.000000	0.71417	0.998000	0.56505	0.971000	0.66376	7.296000	0.78790	2.371000	0.80710	0.533000	0.62120	TCC	.	.	.	none		0.597	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068	
AHR	196	hgsc.bcm.edu	37	7	17362177	17362177	+	Missense_Mutation	SNP	A	A	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr7:17362177A>T	ENST00000242057.4	+	3	949	c.306A>T	c.(304-306)agA>agT	p.R102S		NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	102					apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|cell cycle (GO:0007049)|circadian regulation of gene expression (GO:0032922)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|regulation of B cell proliferation (GO:0030888)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to toxic substance (GO:0009636)|response to xenobiotic stimulus (GO:0009410)|transcription from RNA polymerase II promoter (GO:0006366)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosolic aryl hydrocarbon receptor complex (GO:0034752)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|Hsp90 protein binding (GO:0051879)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|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)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)				Atorvastatin(DB01076)|Flutamide(DB00499)|Ginseng(DB01404)|Leflunomide(DB01097)|Mexiletine(DB00379)|Nimodipine(DB00393)	ATAACTGTAGAGCAGCAAATT	0.333																																					p.R102S		Atlas-SNP	.											.	AHR	89	.	0			c.A306T						PASS	.						67.0	68.0	68.0					7																	17362177		2203	4299	6502	SO:0001583	missense	196	exon3			CTGTAGAGCAGCA	L19872	CCDS5366.1	7p15	2013-05-21			ENSG00000106546	ENSG00000106546		"""Basic helix-loop-helix proteins"""	348	protein-coding gene	gene with protein product		600253				8125016	Standard	NM_001621		Approved	bHLHe76	uc011jxz.1	P35869	OTTHUMG00000149967	ENST00000242057.4:c.306A>T	chr7.hg19:g.17362177A>T	ENSP00000242057:p.Arg102Ser	24.0	0.0	.		102.0	47.0	.	NM_001621	A4D130|Q13728|Q13803|Q13804	Missense_Mutation	SNP	ENST00000242057.4	hg19	CCDS5366.1	.	.	.	.	.	.	.	.	.	.	A	2.672	-0.277392	0.05679	.	.	ENSG00000106546	ENST00000242057	T	0.05199	3.48	0.235	-0.47	0.12131	.	0.875214	0.10272	N	0.694599	T	0.07503	0.0189	M	0.69823	2.125	0.09310	N	1	B	0.29162	0.235	B	0.30401	0.115	T	0.42015	-0.9476	9	0.22706	T	0.39	.	.	.	.	.	102	P35869	AHR_HUMAN	S	102	ENSP00000242057:R102S	ENSP00000242057:R102S	R	+	3	2	AHR	17328702	0.648000	0.27313	0.005000	0.12908	0.666000	0.39218	-0.535000	0.06142	-0.797000	0.04450	-0.818000	0.03119	AGA	.	.	.	none		0.333	AHR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314620.2	NM_001621	
PDE1C	5137	hgsc.bcm.edu	37	7	31877507	31877507	+	Silent	SNP	C	C	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr7:31877507C>T	ENST00000396191.1	-	10	1514	c.1059G>A	c.(1057-1059)aaG>aaA	p.K353K	PDE1C_ENST00000396182.2_Silent_p.K353K|PDE1C_ENST00000396193.1_Silent_p.K413K|PDE1C_ENST00000396184.3_Silent_p.K353K|PDE1C_ENST00000321453.7_Silent_p.K353K	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	353	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	GCAGAGCAGTCTTCATTGCTT	0.433																																					p.K413K		Atlas-SNP	.											.	PDE1C	465	.	0			c.G1239A						PASS	.						194.0	187.0	189.0					7																	31877507		2203	4300	6503	SO:0001819	synonymous_variant	5137	exon11			AGCAGTCTTCATT	U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"""Phosphodiesterases"""	8776	protein-coding gene	gene with protein product		602987	"""phosphodiesterase 1C, calmodulin-dependent (70kD)"""			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.1059G>A	chr7.hg19:g.31877507C>T		130.0	0.0	.		416.0	169.0	.	NM_001191058	B3KPC6|E9PE92|Q14124|Q8NB10	Silent	SNP	ENST00000396191.1	hg19	CCDS55099.1																																																																																			.	.	.	none		0.433	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328458.1		
PCLO	27445	hgsc.bcm.edu	37	7	82579067	82579067	+	Missense_Mutation	SNP	C	C	A	rs370030206		TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr7:82579067C>A	ENST00000333891.9	-	6	11174	c.10837G>T	c.(10837-10839)Gct>Tct	p.A3613S	PCLO_ENST00000423517.2_Missense_Mutation_p.A3613S|PCLO_ENST00000437081.1_Missense_Mutation_p.A333S	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGGGAAGGAGCCAGCTGTACT	0.483																																					p.A3613S		Atlas-SNP	.											.	PCLO	1506	.	0			c.G10837T						PASS	.	C	SER/ALA,SER/ALA	1,4111		0,1,2055	106.0	107.0	106.0		10837,10837	5.6	1.0	7		106	1,8435		0,1,4217	no	missense,missense	PCLO	NM_033026.5,NM_014510.2	99,99	0,2,6272	AA,AC,CC		0.0119,0.0243,0.0159	benign,benign	3613/5143,3613/4936	82579067	2,12546	2056	4218	6274	SO:0001583	missense	27445	exon6			AAGGAGCCAGCTG	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.10837G>T	chr7.hg19:g.82579067C>A	ENSP00000334319:p.Ala3613Ser	87.0	0.0	.		234.0	127.0	.	NM_014510		Missense_Mutation	SNP	ENST00000333891.9	hg19	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	11.09	1.536177	0.27475	2.43E-4	1.19E-4	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.15603	2.41;2.41	5.61	5.61	0.85477	.	.	.	.	.	T	0.19327	0.0464	L	0.33485	1.01	0.30557	N	0.764896	B;B;B	0.28419	0.008;0.211;0.211	B;B;B	0.29716	0.004;0.106;0.106	T	0.09443	-1.0674	9	0.87932	D	0	.	19.6465	0.95778	0.0:1.0:0.0:0.0	.	3544;3613;3613	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	S	3544;3613;3613;333	ENSP00000334319:A3613S;ENSP00000388393:A3613S	ENSP00000334319:A3613S	A	-	1	0	PCLO	82417003	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.155000	0.58131	2.642000	0.89623	0.650000	0.86243	GCT	.	.	.	weak		0.483	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510	
MET	4233	hgsc.bcm.edu	37	7	116422117	116422117	+	Missense_Mutation	SNP	T	T	A			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr7:116422117T>A	ENST00000318493.6	+	18	3839	c.3652T>A	c.(3652-3654)Ttt>Att	p.F1218I	MET_ENST00000397752.3_Missense_Mutation_p.F1200I|MET_ENST00000539704.1_Missense_Mutation_p.F70I			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0					apoptotic process (GO:0006915)|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)	p.F1218V(1)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			AAGCAAAAAGTTTGTCCACAG	0.393			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																												p.F1218I		Atlas-SNP	.		Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	met proto-oncogene (hepatocyte growth factor receptor)		E	MET,NS,carcinoma,0,1	MET	412	.	1	Substitution - Missense(1)	kidney(1)	c.T3652A						PASS	.						57.0	55.0	56.0					7																	116422117		1836	4092	5928	SO:0001583	missense	4233	exon18	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	AAAAAGTTTGTCC	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"""hepatocyte growth factor receptor"""	164860	"""met proto-oncogene"""			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.3652T>A	chr7.hg19:g.116422117T>A	ENSP00000317272:p.Phe1218Ile	22.0	0.0	.		75.0	31.0	.	NM_001127500	A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	hg19	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	T	26.4	4.735740	0.89482	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000539704	T;T;T	0.25414	1.8;1.8;1.8	5.87	5.87	0.94306	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.37128	0.0992	N	0.16862	0.45	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.35201	-0.9798	10	0.87932	D	0	.	16.5764	0.84681	0.0:0.0:0.0:1.0	.	1218;1200	P08581-2;P08581	.;MET_HUMAN	I	1200;1218;70	ENSP00000380860:F1200I;ENSP00000317272:F1218I;ENSP00000445020:F70I	ENSP00000317272:F1218I	F	+	1	0	MET	116209353	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.972000	0.88022	2.371000	0.80710	0.533000	0.62120	TTT	.	.	.	none		0.393	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3		
CHRNB3	1142	hgsc.bcm.edu	37	8	42565553	42565553	+	Missense_Mutation	SNP	G	G	A			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr8:42565553G>A	ENST00000289957.2	+	3	353	c.225G>A	c.(223-225)atG>atA	p.M75I	RP11-412B14.1_ENST00000527318.1_RNA	NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	75					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|protein heterooligomerization (GO:0051291)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)|drug binding (GO:0008144)			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)		Galantamine(DB00674)|Nicotine(DB00184)	ATCAGCTGATGACAACCAATG	0.313																																					p.M75I		Atlas-SNP	.											.	CHRNB3	74	.	0			c.G225A						PASS	.						72.0	73.0	72.0					8																	42565553		2203	4300	6503	SO:0001583	missense	1142	exon3			GCTGATGACAACC	U62438	CCDS6134.1	8p11.21	2012-02-11	2012-02-07		ENSG00000147432	ENSG00000147432		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1963	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 3 (neuronal)"""	118508	"""cholinergic receptor, nicotinic, beta polypeptide 3"""			1505988	Standard	NM_000749		Approved		uc003xpi.1	Q05901	OTTHUMG00000165262	ENST00000289957.2:c.225G>A	chr8.hg19:g.42565553G>A	ENSP00000289957:p.Met75Ile	44.0	0.0	.		37.0	21.0	.	NM_000749	Q15827	Missense_Mutation	SNP	ENST00000289957.2	hg19	CCDS6134.1	.	.	.	.	.	.	.	.	.	.	g	19.35	3.810373	0.70797	.	.	ENSG00000147432	ENST00000534391;ENST00000289957	T	0.78816	-1.21	6.03	6.03	0.97812	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	T	0.76702	0.4024	L	0.33624	1.015	0.80722	D	1	P	0.36712	0.566	B	0.43990	0.438	T	0.77763	-0.2466	10	0.87932	D	0	.	18.1139	0.89545	0.0:0.0:1.0:0.0	.	75	Q05901	ACHB3_HUMAN	I	1;75	ENSP00000289957:M75I	ENSP00000289957:M75I	M	+	3	0	CHRNB3	42684710	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.752000	0.91632	2.876000	0.98609	0.644000	0.83932	ATG	.	.	.	none		0.313	CHRNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383055.1		
RBM12B	389677	hgsc.bcm.edu	37	8	94747484	94747484	+	Silent	SNP	A	A	G			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr8:94747484A>G	ENST00000399300.2	-	3	1368	c.1155T>C	c.(1153-1155)caT>caC	p.H385H	RBM12B_ENST00000517700.1_Silent_p.H385H|RBM12B_ENST00000520961.1_Intron|RP11-10N23.4_ENST00000517998.1_RNA	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	385							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TTTGTGAAACATGTCCGGGCC	0.368																																					p.H385H		Atlas-SNP	.											.	RBM12B	78	.	0			c.T1155C						PASS	.						124.0	121.0	122.0					8																	94747484		1836	4085	5921	SO:0001819	synonymous_variant	389677	exon3			TGAAACATGTCCG		CCDS43755.1	8q22	2014-05-20			ENSG00000183808	ENSG00000183808		"""RNA binding motif (RRM) containing"""	32310	protein-coding gene	gene with protein product							Standard	NM_203390		Approved		uc003yfz.3	Q8IXT5	OTTHUMG00000164317	ENST00000399300.2:c.1155T>C	chr8.hg19:g.94747484A>G		133.0	0.0	.		236.0	96.0	.	NM_203390	A8MYB5	Silent	SNP	ENST00000399300.2	hg19	CCDS43755.1																																																																																			.	.	.	none		0.368	RBM12B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383603.1	NM_203390	
VPS13B	157680	hgsc.bcm.edu	37	8	100514063	100514063	+	Missense_Mutation	SNP	C	C	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr8:100514063C>T	ENST00000358544.2	+	26	4130	c.4019C>T	c.(4018-4020)cCa>cTa	p.P1340L	VPS13B_ENST00000395996.1_Missense_Mutation_p.P1340L|VPS13B_ENST00000357162.2_Missense_Mutation_p.P1340L	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1340					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CTCTTTGCTCCAGATCCTGAA	0.483																																					p.P1340L	Colon(161;2205 2542 7338 31318)	Atlas-SNP	.											.	VPS13B	811	.	0			c.C4019T						PASS	.						132.0	135.0	134.0					8																	100514063		2203	4300	6503	SO:0001583	missense	157680	exon26			TTGCTCCAGATCC	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.4019C>T	chr8.hg19:g.100514063C>T	ENSP00000351346:p.Pro1340Leu	111.0	0.0	.		140.0	54.0	.	NM_152564	C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	hg19	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	C	14.34	2.507355	0.44558	.	.	ENSG00000132549	ENST00000357162;ENST00000358544;ENST00000395996	T;T;T	0.45276	0.9;0.9;0.9	5.22	5.22	0.72569	.	0.215869	0.38548	N	0.001641	T	0.32315	0.0825	L	0.34521	1.04	0.53688	D	0.999974	B;B;B;B	0.09022	0.001;0.002;0.001;0.001	B;B;B;B	0.10450	0.005;0.004;0.004;0.002	T	0.06807	-1.0806	10	0.31617	T	0.26	.	12.4938	0.55916	0.0:0.9229:0.0:0.0771	.	1339;1340;1340;1340	Q7Z7G8-6;Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3	.;.;VP13B_HUMAN;.	L	1340	ENSP00000349685:P1340L;ENSP00000351346:P1340L;ENSP00000379318:P1340L	ENSP00000349685:P1340L	P	+	2	0	VPS13B	100583239	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	5.508000	0.67006	2.589000	0.87451	0.557000	0.71058	CCA	.	.	.	none		0.483	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042	
FAM208B	54906	hgsc.bcm.edu	37	10	5788364	5788364	+	Missense_Mutation	SNP	T	T	C			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr10:5788364T>C	ENST00000328090.5	+	15	3605	c.2980T>C	c.(2980-2982)Tct>Cct	p.S994P	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	994																	ATGTCAGAGCTCTGTGTACGG	0.483																																					p.S994P		Atlas-SNP	.											.	.	.	.	0			c.T2980C						PASS	.						102.0	100.0	100.0					10																	5788364		2007	4170	6177	SO:0001583	missense	54906	exon15			CAGAGCTCTGTGT	BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.2980T>C	chr10.hg19:g.5788364T>C	ENSP00000328426:p.Ser994Pro	80.0	0.0	.		113.0	55.0	.	NM_017782	Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	ENST00000328090.5	hg19	CCDS41485.1	.	.	.	.	.	.	.	.	.	.	T	5.833	0.337978	0.11013	.	.	ENSG00000108021	ENST00000328090	D	0.97811	-4.55	5.37	2.97	0.34412	.	0.115838	0.39407	N	0.001362	D	0.94601	0.8260	L	0.43701	1.375	0.09310	N	1	B	0.34161	0.439	B	0.37422	0.249	D	0.88914	0.3361	10	0.48119	T	0.1	.	4.643	0.12558	0.1675:0.0913:0.0:0.7412	.	994	Q5VWN6	F208B_HUMAN	P	994	ENSP00000328426:S994P	ENSP00000328426:S994P	S	+	1	0	C10orf18	5828370	0.079000	0.21365	0.210000	0.23637	0.008000	0.06430	0.877000	0.28106	0.304000	0.22809	0.460000	0.39030	TCT	.	.	.	none		0.483	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	NM_017782	
C1QL3	389941	hgsc.bcm.edu	37	10	16556595	16556595	+	Missense_Mutation	SNP	C	C	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr10:16556595C>T	ENST00000298943.3	-	2	1639	c.700G>A	c.(700-702)Ggg>Agg	p.G234R		NM_001010908.1	NP_001010908.1	Q5VWW1	C1QL3_HUMAN	complement component 1, q subcomponent-like 3	234	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				regulation of synapse organization (GO:0050807)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)		p.G234W(1)		breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	13						TGGGCTTTCCCGCCATCTAAT	0.393																																					p.G234R		Atlas-SNP	.											.	C1QL3	27	.	1	Substitution - Missense(1)	lung(1)	c.G700A						PASS	.						148.0	137.0	141.0					10																	16556595		2203	4300	6503	SO:0001583	missense	389941	exon2			CTTTCCCGCCATC		CCDS31156.1	10p13	2012-03-26			ENSG00000165985	ENSG00000165985			19359	protein-coding gene	gene with protein product		615227				21378161	Standard	NM_001010908		Approved	K100, C1ql, C1QTNF13, CTRP13	uc001ioj.1	Q5VWW1	OTTHUMG00000017738	ENST00000298943.3:c.700G>A	chr10.hg19:g.16556595C>T	ENSP00000298943:p.Gly234Arg	101.0	0.0	.		118.0	47.0	.	NM_001010908	A0PJY4|A0PJY5	Missense_Mutation	SNP	ENST00000298943.3	hg19	CCDS31156.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.486586	0.84854	.	.	ENSG00000165985	ENST00000298943;ENST00000448557	T	0.25749	1.78	5.71	5.71	0.89125	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.000000	0.85682	D	0.000000	T	0.52322	0.1727	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.44907	-0.9297	10	0.48119	T	0.1	.	19.8415	0.96690	0.0:1.0:0.0:0.0	.	234	Q5VWW1	C1QL3_HUMAN	R	234;211	ENSP00000298943:G234R	ENSP00000298943:G234R	G	-	1	0	C1QL3	16596601	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.818000	0.86416	2.700000	0.92200	0.655000	0.94253	GGG	.	.	.	none		0.393	C1QL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047003.1	XM_372305	
API5	8539	hgsc.bcm.edu	37	11	43342441	43342441	+	Missense_Mutation	SNP	T	T	C			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr11:43342441T>C	ENST00000531273.1	+	3	441	c.302T>C	c.(301-303)aTa>aCa	p.I101T	API5_ENST00000455725.2_Missense_Mutation_p.I90T|API5_ENST00000378852.3_Missense_Mutation_p.I101T|API5_ENST00000534600.1_Missense_Mutation_p.I101T|API5_ENST00000534695.1_Intron|API5_ENST00000420461.2_Missense_Mutation_p.I47T			Q9BZZ5	API5_HUMAN	apoptosis inhibitor 5	101	ARM-like and Heat-like helical repeats.				apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|negative regulation of fibroblast apoptotic process (GO:2000270)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	fibroblast growth factor binding (GO:0017134)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						GTGGCAGATATACTAACGCAA	0.343																																					p.I101T	Pancreas(1;98 122 5625 20895 49453)	Atlas-SNP	.											.	API5	91	.	0			c.T302C						PASS	.						83.0	85.0	84.0					11																	43342441		2203	4300	6503	SO:0001583	missense	8539	exon3			CAGATATACTAAC	U83857	CCDS31465.1, CCDS44572.1, CCDS44573.1	11p12	2010-09-30			ENSG00000166181	ENSG00000166181			594	protein-coding gene	gene with protein product	"""API5-like 1"", ""fibroblast growth factor 2-interacting factor 2"", ""migration-inducing protein MIG8"""	609774				9307294	Standard	NR_024625		Approved	AAC-11, API5L1, AAC11	uc010rfh.1	Q9BZZ5	OTTHUMG00000166395	ENST00000531273.1:c.302T>C	chr11.hg19:g.43342441T>C	ENSP00000431391:p.Ile101Thr	65.0	0.0	.		93.0	42.0	.	NM_006595	B4DGR0|B4DRJ2|D3DR21|O15441|Q9Y4J7	Missense_Mutation	SNP	ENST00000531273.1	hg19	CCDS44572.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.975544	0.74360	.	.	ENSG00000166181	ENST00000455725;ENST00000531273;ENST00000420461;ENST00000378852;ENST00000534600	T;T;T;T;T	0.20738	2.05;2.05;2.05;2.05;2.05	6.13	6.13	0.99165	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.36220	0.0959	L	0.45422	1.42	0.58432	D	0.999999	P;P;D;P	0.61697	0.951;0.92;0.99;0.952	P;P;P;P	0.61722	0.675;0.551;0.893;0.6	T	0.01570	-1.1322	10	0.34782	T	0.22	-2.8866	16.4795	0.84153	0.0:0.0:0.0:1.0	.	47;101;90;101	B4DGR0;Q9BZZ5;B4E283;Q9BZZ5-2	.;API5_HUMAN;.;.	T	90;101;47;101;101	ENSP00000399341:I90T;ENSP00000431391:I101T;ENSP00000402540:I47T;ENSP00000368129:I101T;ENSP00000434462:I101T	ENSP00000368129:I101T	I	+	2	0	API5	43299017	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	7.981000	0.88123	2.367000	0.80283	0.529000	0.55759	ATA	.	.	.	none		0.343	API5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389545.1	NM_006595	
OR8I2	120586	hgsc.bcm.edu	37	11	55861616	55861616	+	Missense_Mutation	SNP	C	C	T	rs140206966	byFrequency	TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr11:55861616C>T	ENST00000302124.2	+	1	864	c.833C>T	c.(832-834)aCg>aTg	p.T278M		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	278						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T278M(1)		NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					GTATTCTATACGATTGTCATT	0.408																																					p.T278M		Atlas-SNP	.											OR8I2,NS,carcinoma,0,2	OR8I2	119	.	1	Substitution - Missense(1)	endometrium(1)	c.C833T						PASS	.						62.0	61.0	62.0					11																	55861616		2201	4296	6497	SO:0001583	missense	120586	exon1			TCTATACGATTGT	AB065656	CCDS31517.1	11q11	2012-08-09			ENSG00000172154	ENSG00000172154		"""GPCR / Class A : Olfactory receptors"""	15310	protein-coding gene	gene with protein product							Standard	NM_001003750		Approved		uc010rix.2	Q8N0Y5	OTTHUMG00000166831	ENST00000302124.2:c.833C>T	chr11.hg19:g.55861616C>T	ENSP00000303864:p.Thr278Met	52.0	0.0	.		96.0	8.0	.	NM_001003750	B2RNN4|Q6IFC0|Q96RC5	Missense_Mutation	SNP	ENST00000302124.2	hg19	CCDS31517.1	.	.	.	.	.	.	.	.	.	.	C	12.23	1.876897	0.33162	.	.	ENSG00000172154	ENST00000302124	T	0.00262	8.4	4.33	4.33	0.51752	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41605	U	0.000856	T	0.00608	0.0020	M	0.83118	2.625	0.32279	N	0.567785	D	0.89917	1.0	D	0.70935	0.971	T	0.50988	-0.8762	10	0.87932	D	0	-16.3432	15.8041	0.78481	0.0:1.0:0.0:0.0	.	278	Q8N0Y5	OR8I2_HUMAN	M	278	ENSP00000303864:T278M	ENSP00000303864:T278M	T	+	2	0	OR8I2	55618192	0.000000	0.05858	0.985000	0.45067	0.054000	0.15201	0.638000	0.24674	2.120000	0.65058	0.447000	0.29281	ACG	.	C|0.999;A|0.001	.	alt		0.408	OR8I2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001003750	
HNRNPUL2	221092	hgsc.bcm.edu	37	11	62488862	62488862	+	Missense_Mutation	SNP	T	T	C			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr11:62488862T>C	ENST00000301785.5	-	9	1708	c.1516A>G	c.(1516-1518)Aaa>Gaa	p.K506E	HNRNPUL2-BSCL2_ENST00000403734.2_Missense_Mutation_p.K506E	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	506						membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						TCTCGGCTTTTGGGGTCCATC	0.428																																					p.K506E		Atlas-SNP	.											.	HNRNPUL2	41	.	0			c.A1516G						PASS	.						153.0	158.0	157.0					11																	62488862		1846	4094	5940	SO:0001583	missense	221092	exon9			GGCTTTTGGGGTC		CCDS41659.1	11q12	2013-07-16		2008-04-18	ENSG00000214753	ENSG00000214753			25451	protein-coding gene	gene with protein product				HNRPUL2			Standard	NM_001079559		Approved	DKFZp762N1910	uc001nuw.3	Q1KMD3	OTTHUMG00000167773	ENST00000301785.5:c.1516A>G	chr11.hg19:g.62488862T>C	ENSP00000301785:p.Lys506Glu	180.0	0.0	.		214.0	87.0	.	NM_001079559	Q8N3B3	Missense_Mutation	SNP	ENST00000301785.5	hg19	CCDS41659.1	.	.	.	.	.	.	.	.	.	.	T	18.84	3.709456	0.68730	.	.	ENSG00000214753	ENST00000301785	T	0.40756	1.02	5.99	5.99	0.97316	Zeta toxin domain (1);	0.158288	0.64402	D	0.000020	T	0.40719	0.1128	N	0.25286	0.73	0.35130	D	0.767875	P	0.51791	0.948	P	0.51866	0.682	T	0.49934	-0.8886	10	0.30854	T	0.27	-16.7044	14.4463	0.67352	0.0:0.0:0.0:1.0	.	506	Q1KMD3	HNRL2_HUMAN	E	506	ENSP00000301785:K506E	ENSP00000301785:K506E	K	-	1	0	HNRNPUL2	62245438	0.897000	0.30589	1.000000	0.80357	0.995000	0.86356	1.144000	0.31565	2.291000	0.77112	0.533000	0.62120	AAA	.	.	.	none		0.428	HNRNPUL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396208.2	XM_495877	
PCF11	51585	hgsc.bcm.edu	37	11	82877727	82877727	+	Silent	SNP	A	A	G			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr11:82877727A>G	ENST00000298281.4	+	5	2240	c.1788A>G	c.(1786-1788)agA>agG	p.R596R		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	596					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						CTGCCAAAAGATGGAAATCTG	0.343																																					p.R596R		Atlas-SNP	.											.	PCF11	220	.	0			c.A1788G						PASS	.						74.0	75.0	75.0					11																	82877727		1755	3854	5609	SO:0001819	synonymous_variant	51585	exon5			CAAAAGATGGAAA	AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"""PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)"", ""PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"""			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.1788A>G	chr11.hg19:g.82877727A>G		67.0	0.0	.		135.0	65.0	.	NM_015885	A6H8W7|O43671|Q6P0X8	Silent	SNP	ENST00000298281.4	hg19	CCDS44689.1																																																																																			.	.	.	none		0.343	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392548.2	NM_015885	
NCAM1	4684	hgsc.bcm.edu	37	11	113078684	113078684	+	Missense_Mutation	SNP	G	G	C			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr11:113078684G>C	ENST00000533760.1	+	7	1121	c.522G>C	c.(520-522)aaG>aaC	p.K174N	NCAM1_ENST00000316851.7_Missense_Mutation_p.K282N|NCAM1_ENST00000401611.2_Missense_Mutation_p.K291N|NCAM1_ENST00000397957.4_3'UTR	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	292	Ig-like C2-type 2.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		CTGAGAACAAGGCTGGCGAGC	0.532																																					p.K292N		Atlas-SNP	.											.	NCAM1	372	.	0			c.G876C						PASS	.						61.0	61.0	61.0					11																	113078684		2078	4216	6294	SO:0001583	missense	4684	exon8			GAACAAGGCTGGC		CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000533760.1:c.522G>C	chr11.hg19:g.113078684G>C	ENSP00000473281:p.Lys174Asn	27.0	0.0	.		20.0	6.0	.	NM_001242608	A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Missense_Mutation	SNP	ENST00000533760.1	hg19		.	.	.	.	.	.	.	.	.	.	G	18.41	3.617792	0.66787	.	.	ENSG00000149294	ENST00000531044;ENST00000401611;ENST00000316851	T;T	0.68181	-0.31;-0.31	5.57	3.47	0.39725	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.041493	0.85682	D	0.000000	T	0.78400	0.4277	.	.	.	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.997;0.995;0.994;0.983	D;D;D;D;D	0.71870	0.963;0.917;0.975;0.952;0.925	T	0.79697	-0.1695	9	0.87932	D	0	-16.9107	8.6894	0.34258	0.2821:0.0:0.7179:0.0	.	292;292;292;292;292	P13591-5;P13591-1;P13591;P13591-3;P13591-6	.;.;NCAM1_HUMAN;.;.	N	174;291;282	ENSP00000384055:K291N;ENSP00000318472:K282N	ENSP00000318472:K282N	K	+	3	2	NCAM1	112583894	1.000000	0.71417	1.000000	0.80357	0.714000	0.41099	3.113000	0.50376	1.347000	0.45714	0.655000	0.94253	AAG	.	.	.	none		0.532	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394068.2	NM_000615	
C3AR1	719	hgsc.bcm.edu	37	12	8211578	8211578	+	Missense_Mutation	SNP	G	G	A			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr12:8211578G>A	ENST00000307637.4	-	2	1407	c.1204C>T	c.(1204-1206)Ctt>Ttt	p.L402F		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	402					blood circulation (GO:0008015)|chemotaxis (GO:0006935)|complement receptor mediated signaling pathway (GO:0002430)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation vascular endothelial growth factor production (GO:0010575)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C3a anaphylatoxin receptor activity (GO:0004943)|complement component C3a receptor activity (GO:0004876)|G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		GGGTCAGTAAGCAATGACAGG	0.483																																					p.L402F		Atlas-SNP	.											.	C3AR1	61	.	0			c.C1204T						PASS	.						73.0	68.0	70.0					12																	8211578		2203	4300	6503	SO:0001583	missense	719	exon2			CAGTAAGCAATGA	U28488	CCDS8588.1	12p13.31	2012-08-10				ENSG00000171860		"""Complement system"", ""GPCR / Class A : Complement component receptors"""	1319	protein-coding gene	gene with protein product		605246				8605247	Standard	NM_004054		Approved	C3AR, AZ3B	uc001qtv.1	Q16581		ENST00000307637.4:c.1204C>T	chr12.hg19:g.8211578G>A	ENSP00000302079:p.Leu402Phe	69.0	0.0	.		67.0	8.0	.	NM_004054	O43771|Q92868	Missense_Mutation	SNP	ENST00000307637.4	hg19	CCDS8588.1	.	.	.	.	.	.	.	.	.	.	G	0.033	-1.321727	0.01320	.	.	ENSG00000171860	ENST00000307637	T	0.37235	1.21	5.26	0.103	0.14526	GPCR, rhodopsin-like superfamily (1);	1.231120	0.05729	N	0.599303	T	0.12518	0.0304	N	0.01800	-0.715	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.23332	-1.0191	10	0.15499	T	0.54	.	3.1161	0.06375	0.4472:0.0:0.2539:0.2989	.	402	Q16581	C3AR_HUMAN	F	402	ENSP00000302079:L402F	ENSP00000302079:L402F	L	-	1	0	C3AR1	8102845	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-0.859000	0.04277	0.118000	0.18165	-0.238000	0.12139	CTT	.	.	.	none		0.483	C3AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400254.1		
ESPL1	9700	hgsc.bcm.edu	37	12	53687232	53687232	+	Missense_Mutation	SNP	T	T	C			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr12:53687232T>C	ENST00000257934.4	+	31	6428	c.6337T>C	c.(6337-6339)Tat>Cat	p.Y2113H	PFDN5_ENST00000550846.1_5'Flank|ESPL1_ENST00000552462.1_Missense_Mutation_p.Y2113H|PFDN5_ENST00000551018.1_5'Flank|PFDN5_ENST00000351500.3_5'Flank|PFDN5_ENST00000334478.4_5'Flank	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	2113					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						ACCTATAGCCTATGGCTTGCC	0.527																																					p.Y2113H	Colon(53;1069 1201 2587 5382)	Atlas-SNP	.											.	ESPL1	158	.	0			c.T6337C						PASS	.						64.0	65.0	65.0					12																	53687232		2203	4300	6503	SO:0001583	missense	9700	exon31			ATAGCCTATGGCT	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.6337T>C	chr12.hg19:g.53687232T>C	ENSP00000257934:p.Tyr2113His	133.0	0.0	.		97.0	45.0	.	NM_012291		Missense_Mutation	SNP	ENST00000257934.4	hg19	CCDS8852.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.234561	0.79800	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	T;T	0.56444	0.46;0.46	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.76702	0.4024	M	0.90198	3.095	0.53688	D	0.999976	D	0.89917	1.0	D	0.87578	0.998	T	0.82204	-0.0573	10	0.87932	D	0	.	13.8969	0.63778	0.0:0.0:0.0:1.0	.	2113	Q14674	ESPL1_HUMAN	H	2113;1788;2113	ENSP00000257934:Y2113H;ENSP00000449831:Y2113H	ENSP00000257934:Y2113H	Y	+	1	0	ESPL1	51973499	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.612000	0.82975	2.178000	0.69098	0.460000	0.39030	TAT	.	.	.	none		0.527	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291	
ALDH2	217	hgsc.bcm.edu	37	12	112227694	112227694	+	Missense_Mutation	SNP	T	T	C			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr12:112227694T>C	ENST00000261733.2	+	5	569	c.508T>C	c.(508-510)Tac>Cac	p.Y170H	RP11-162P23.2_ENST00000546840.2_Silent_p.A166A|ALDH2_ENST00000416293.3_Missense_Mutation_p.Y123H	NM_000690.3	NP_000681.2	P05091	ALDH2_HUMAN	aldehyde dehydrogenase 2 family (mitochondrial)	170					alcohol metabolic process (GO:0006066)|carbohydrate metabolic process (GO:0005975)|ethanol catabolic process (GO:0006068)|ethanol oxidation (GO:0006069)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|electron carrier activity (GO:0009055)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22					Amyl Nitrite(DB01612)|Benzyl alcohol(DB06770)|Disulfiram(DB00822)|Guanidine(DB00536)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)	CTTCTTCAGCTACACACGCCA	0.527			T	HMGA2	leiomyoma																																p.Y170H		Atlas-SNP	.		Dom	yes		12	12q24.2	217	aldehyde dehydrogenase 2 family (mitochondrial)		M	.	ALDH2	91	.	0			c.T508C						PASS	.						100.0	87.0	91.0					12																	112227694		2203	4300	6503	SO:0001583	missense	217	exon5			TTCAGCTACACAC	M26760	CCDS9155.1, CCDS55885.1	12q24.12	2007-12-14				ENSG00000111275	1.2.1.3	"""Aldehyde dehydrogenases"""	404	protein-coding gene	gene with protein product		100650				4015823, 2987944	Standard	NM_000690		Approved		uc001tst.3	P05091	OTTHUMG00000169603	ENST00000261733.2:c.508T>C	chr12.hg19:g.112227694T>C	ENSP00000261733:p.Tyr170His	81.0	0.0	.		61.0	21.0	.	NM_000690	B4DW54|E7EUE5|Q03639|Q6IB13|Q6IV71	Missense_Mutation	SNP	ENST00000261733.2	hg19	CCDS9155.1	.	.	.	.	.	.	.	.	.	.	T	27.0	4.792458	0.90453	.	.	ENSG00000257767;ENSG00000111275;ENSG00000111275;ENSG00000111275;ENSG00000111275	ENST00000546840;ENST00000416293;ENST00000261733;ENST00000553044;ENST00000552234	T;T	0.77620	-1.11;-1.11	5.17	5.17	0.71159	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.172373	0.53938	D	0.000059	D	0.89612	0.6765	M	0.88105	2.93	0.53688	D	0.999979	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.987;0.997;0.998	D	0.91609	0.5301	10	0.72032	D	0.01	.	15.3139	0.74059	0.0:0.0:0.0:1.0	.	123;170;170	E7EUE5;F8VXI5;P05091	.;.;ALDH2_HUMAN	H	151;123;170;170;30	ENSP00000403349:Y123H;ENSP00000261733:Y170H	ENSP00000261733:Y170H	Y	+	1	0	ALDH2;RP11-162P23.2	110712077	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.655000	0.83696	2.071000	0.62044	0.460000	0.39030	TAC	.	.	.	none		0.527	ALDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405008.1	NM_000690	
HNF1A	6927	hgsc.bcm.edu	37	12	121437158	121437158	+	Missense_Mutation	SNP	T	T	C			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr12:121437158T>C	ENST00000257555.6	+	8	1815	c.1589T>C	c.(1588-1590)cTg>cCg	p.L530P	HNF1A_ENST00000544413.1_Missense_Mutation_p.L530P|RP11-216P16.2_ENST00000606238.1_RNA|HNF1A_ENST00000541395.1_Missense_Mutation_p.L530P			P20823	HNF1A_HUMAN	HNF1 homeobox A	530					glucose homeostasis (GO:0042593)|glucose import (GO:0046323)|insulin secretion (GO:0030073)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|renal glucose absorption (GO:0035623)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|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)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ACCACCAACCTGAGCGCCCTG	0.687									Hepatic Adenoma, Familial Clustering of																												p.L530P		Atlas-SNP	.											.	HNF1A	302	.	0			c.T1589C						PASS	.						83.0	85.0	84.0					12																	121437158		2203	4300	6503	SO:0001583	missense	6927	exon8	Familial Cancer Database	incl. Maturity-Onset Diabetes of the Young type 3, MODY3	CCAACCTGAGCGC	M57732	CCDS9209.1	12q24.31	2014-09-17	2007-08-24	2007-08-24	ENSG00000135100	ENSG00000135100		"""Homeoboxes / HNF class"""	11621	protein-coding gene	gene with protein product		142410	"""transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor"""	MODY3, TCF1		1535333, 7795649	Standard	NM_000545		Approved	HNF1, LFB1	uc001tzg.3	P20823	OTTHUMG00000151015	ENST00000257555.6:c.1589T>C	chr12.hg19:g.121437158T>C	ENSP00000257555:p.Leu530Pro	399.0	0.0	.		116.0	54.0	.	NM_000545	A5Z2R8|E0YMJ5|E0YMK0|E0YMK1|E2I9R4|E2I9R5|F5H5U3|Q2M3H2|Q99861	Missense_Mutation	SNP	ENST00000257555.6	hg19	CCDS9209.1	.	.	.	.	.	.	.	.	.	.	T	26.7	4.760491	0.89932	.	.	ENSG00000135100	ENST00000257555;ENST00000535125;ENST00000537424;ENST00000543027;ENST00000541395;ENST00000544413	D;D;D	0.98617	-5.03;-5.03;-5.03	5.52	5.52	0.82312	Hepatocyte nuclear factor 1, beta isoform, C-terminal (1);	0.000000	0.48286	D	0.000189	D	0.98658	0.9550	L	0.52573	1.65	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.993;0.996	D	0.99890	1.1133	10	0.72032	D	0.01	-15.5351	14.8565	0.70341	0.0:0.0:0.0:1.0	.	530;530	F5H0K0;P20823	.;HNF1A_HUMAN	P	530;422;530;351;530;530	ENSP00000257555:L530P;ENSP00000443112:L530P;ENSP00000438804:L530P	ENSP00000257555:L530P	L	+	2	0	HNF1A	119921541	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.616000	0.83018	2.104000	0.64026	0.528000	0.53228	CTG	.	.	.	none		0.687	HNF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320957.5	NM_000545	
BRCA2	675	hgsc.bcm.edu	37	13	32907353	32907353	+	Missense_Mutation	SNP	A	A	C			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr13:32907353A>C	ENST00000380152.3	+	10	1971	c.1738A>C	c.(1738-1740)Ata>Cta	p.I580L	BRCA2_ENST00000544455.1_Missense_Mutation_p.I580L			P51587	BRCA2_HUMAN	breast cancer 2, early onset	580					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TGCAGGTTTAATATCCACTTT	0.338			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											p.I580L	Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	Atlas-SNP	.	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"""L, E"""	.	BRCA2	812	.	0			c.A1738C						PASS	.						44.0	49.0	47.0					13																	32907353		2203	4300	6503	SO:0001583	missense	675	exon10	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	GGTTTAATATCCA	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.1738A>C	chr13.hg19:g.32907353A>C	ENSP00000369497:p.Ile580Leu	55.0	0.0	.		93.0	49.0	.	NM_000059	O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	hg19	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	A	14.91	2.677622	0.47886	.	.	ENSG00000139618	ENST00000380152;ENST00000544455;ENST00000530893	T;T	0.00776	5.71;5.71	5.5	4.32	0.51571	.	0.150989	0.47093	D	0.000244	T	0.00906	0.0030	M	0.70275	2.135	0.25438	N	0.988123	P;B	0.39748	0.686;0.402	B;B	0.32211	0.088;0.142	T	0.45190	-0.9278	10	0.15952	T	0.53	.	5.4332	0.16464	0.7537:0.0:0.0834:0.1629	.	580;580	P51587;A1YBP1	BRCA2_HUMAN;.	L	580;580;578	ENSP00000369497:I580L;ENSP00000439902:I580L	ENSP00000369497:I580L	I	+	1	0	BRCA2	31805353	0.997000	0.39634	0.995000	0.50966	0.698000	0.40448	0.972000	0.29409	1.016000	0.39470	0.528000	0.53228	ATA	.	.	.	none		0.338	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059	
ESD	2098	hgsc.bcm.edu	37	13	47354151	47354151	+	Silent	SNP	A	A	G			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr13:47354151A>G	ENST00000378720.3	-	8	701	c.519T>C	c.(517-519)gcT>gcC	p.A173A	ESD_ENST00000495654.1_5'UTR|ESD_ENST00000378697.1_Silent_p.A144A	NM_001984.1	NP_001975.1	P10768	ESTD_HUMAN	esterase D	173					formaldehyde catabolic process (GO:0046294)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carboxylic ester hydrolase activity (GO:0052689)|hydrolase activity, acting on ester bonds (GO:0016788)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)|S-formylglutathione hydrolase activity (GO:0018738)			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	9		all_lung(13;3.54e-08)|Lung NSC(96;9.1e-06)|Breast(56;0.000148)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)		GBM - Glioblastoma multiforme(144;2.66e-05)	Glutathione(DB00143)	TGCAAATTGGAGCAAATGCTG	0.333																																					p.A173A		Atlas-SNP	.											.	ESD	23	.	0			c.T519C						PASS	.						91.0	91.0	91.0					13																	47354151		2203	4299	6502	SO:0001819	synonymous_variant	2098	exon8			AATTGGAGCAAAT	M13450	CCDS9404.1	13q14.1-q14.2	2014-05-13	2010-05-07		ENSG00000139684	ENSG00000139684	3.1.2.12		3465	protein-coding gene	gene with protein product	"""S-formylglutathione hydrolase"""	133280	"""esterase D/formylglutathione hydrolase"""				Standard	NM_001984		Approved		uc001vbn.3	P10768	OTTHUMG00000016878	ENST00000378720.3:c.519T>C	chr13.hg19:g.47354151A>G		76.0	0.0	.		101.0	42.0	.	NM_001984	Q5TBU8|Q5TBV0|Q5TBV2|Q9BVJ2	Silent	SNP	ENST00000378720.3	hg19	CCDS9404.1	.	.	.	.	.	.	.	.	.	.	A	9.962	1.223120	0.22457	.	.	ENSG00000139684	ENST00000412582	.	.	.	6.16	3.7	0.42460	.	.	.	.	.	T	0.57140	0.2033	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50717	-0.8795	4	.	.	.	-8.9614	7.2303	0.26038	0.6488:0.2815:0.0697:0.0	.	.	.	.	P	121	.	.	L	-	2	0	ESD	46252152	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.509000	0.35780	0.536000	0.28733	-0.299000	0.09455	CTC	.	.	.	none		0.333	ESD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044826.1		
OR11G2	390439	hgsc.bcm.edu	37	14	20666034	20666034	+	Silent	SNP	C	C	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr14:20666034C>T	ENST00000357366.3	+	1	540	c.540C>T	c.(538-540)acC>acT	p.T180T		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	180						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)		GTCTCTGTACCAATCTTGTGG	0.448																																					p.T180T		Atlas-SNP	.											.	OR11G2	73	.	0			c.C540T						PASS	.						111.0	94.0	100.0					14																	20666034		2203	4300	6503	SO:0001819	synonymous_variant	390439	exon1			CTGTACCAATCTT		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.540C>T	chr14.hg19:g.20666034C>T		63.0	0.0	.		112.0	39.0	.	NM_001005503	Q6IF09|Q96R33	Silent	SNP	ENST00000357366.3	hg19	CCDS32032.1																																																																																			.	.	.	none		0.448	OR11G2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395722.1		
C14orf37	145407	hgsc.bcm.edu	37	14	58563683	58563683	+	Missense_Mutation	SNP	C	C	G			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr14:58563683C>G	ENST00000267485.7	-	5	2042	c.1848G>C	c.(1846-1848)gaG>gaC	p.E616D		NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	616	Glu-rich.					integral component of membrane (GO:0016021)				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						cctcttcatcctcatcttctt	0.398																																					p.E616D		Atlas-SNP	.											.	C14orf37	87	.	0			c.G1848C						PASS	.						195.0	145.0	162.0					14																	58563683		2203	4300	6503	SO:0001583	missense	145407	exon5			TTCATCCTCATCT		CCDS32089.1	14q23.1	2012-09-03			ENSG00000139971	ENSG00000139971			19846	protein-coding gene	gene with protein product							Standard	NM_001001872		Approved		uc001xdc.3	Q86TY3	OTTHUMG00000171173	ENST00000267485.7:c.1848G>C	chr14.hg19:g.58563683C>G	ENSP00000267485:p.Glu616Asp	31.0	0.0	.		55.0	27.0	.	NM_001001872	A8K8Z8|Q6P5Q1|Q86TY1	Missense_Mutation	SNP	ENST00000267485.7	hg19	CCDS32089.1	.	.	.	.	.	.	.	.	.	.	C	12.96	2.093373	0.36952	.	.	ENSG00000139971	ENST00000267485;ENST00000438670	T	0.11063	2.81	4.97	-3.62	0.04543	Armadillo-like helical (1);	0.466239	0.19773	N	0.106394	T	0.07143	0.0181	L	0.38531	1.155	0.30330	N	0.786721	B;B;B	0.24576	0.106;0.106;0.106	B;B;B	0.26770	0.073;0.073;0.073	T	0.12016	-1.0564	10	0.87932	D	0	-0.7422	5.8628	0.18759	0.0:0.3161:0.242:0.4419	.	654;616;616	B4DMS4;A8K990;Q86TY3	.;.;CN037_HUMAN	D	616;654	ENSP00000267485:E616D	ENSP00000267485:E616D	E	-	3	2	C14orf37	57633436	0.186000	0.23225	0.976000	0.42696	0.636000	0.38137	-1.104000	0.03326	-0.558000	0.06118	0.561000	0.74099	GAG	.	.	.	none		0.398	C14orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412059.1	NM_001001872	
SYNE2	23224	hgsc.bcm.edu	37	14	64596614	64596614	+	Missense_Mutation	SNP	T	T	A			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr14:64596614T>A	ENST00000344113.4	+	75	14346	c.14134T>A	c.(14134-14136)Tta>Ata	p.L4712I	SYNE2_ENST00000555002.1_Missense_Mutation_p.L1346I|SYNE2_ENST00000357395.3_Missense_Mutation_p.L1097I|SYNE2_ENST00000358025.3_Missense_Mutation_p.L4712I|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.L1097I|SYNE2_ENST00000554584.1_Missense_Mutation_p.L4629I	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4712					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)		GGTTTACAAATTAGAGGTATG	0.458																																					p.L4712I		Atlas-SNP	.											.	SYNE2	577	.	0			c.T14134A						PASS	.						113.0	112.0	112.0					14																	64596614		2203	4300	6503	SO:0001583	missense	23224	exon75			TACAAATTAGAGG	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.14134T>A	chr14.hg19:g.64596614T>A	ENSP00000341781:p.Leu4712Ile	54.0	0.0	.		59.0	29.0	.	NM_182914	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	hg19	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	T	10.90	1.481904	0.26598	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.71934	1.34;1.34;1.34;-0.61;1.34;1.34	5.23	1.55	0.23275	.	0.000000	0.40144	N	0.001175	T	0.76300	0.3968	M	0.72894	2.215	0.80722	D	1	D;D;D	0.69078	0.997;0.987;0.995	D;P;D	0.67231	0.95;0.841;0.926	T	0.70197	-0.4938	10	0.27785	T	0.31	.	5.4414	0.16511	0.0:0.2145:0.1349:0.6506	.	1097;4712;4712	Q8WXH0-7;Q8WXH0;Q8WXH0-2	.;SYNE2_HUMAN;.	I	4712;1097;4712;4629;4629;1346;1097	ENSP00000350719:L4712I;ENSP00000349969:L1097I;ENSP00000341781:L4712I;ENSP00000452570:L4629I;ENSP00000450831:L1346I;ENSP00000378249:L1097I	ENSP00000261678:L4629I	L	+	1	2	SYNE2	63666367	1.000000	0.71417	0.996000	0.52242	0.717000	0.41224	0.934000	0.28910	0.084000	0.17077	-0.274000	0.10170	TTA	.	.	.	none		0.458	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914	
TTC8	123016	hgsc.bcm.edu	37	14	89307438	89307438	+	Missense_Mutation	SNP	T	T	A			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr14:89307438T>A	ENST00000345383.5	+	4	441	c.357T>A	c.(355-357)agT>agA	p.S119R	TTC8_ENST00000354441.6_Intron|Y_RNA_ENST00000384612.1_RNA|TTC8_ENST00000338104.6_Missense_Mutation_p.S119R|TTC8_ENST00000346301.4_Missense_Mutation_p.S119R|TTC8_ENST00000380656.2_Missense_Mutation_p.S129R|TTC8_ENST00000358622.5_5'Flank|TTC8_ENST00000536576.1_5'UTR	NM_198309.2	NP_938051.1	Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8	129					axon guidance (GO:0007411)|camera-type eye photoreceptor cell differentiation (GO:0060219)|cilium assembly (GO:0042384)|establishment of anatomical structure orientation (GO:0048560)|fat cell differentiation (GO:0045444)|multicellular organism growth (GO:0035264)|nonmotile primary cilium assembly (GO:0035058)|olfactory bulb development (GO:0021772)|protein transport (GO:0015031)|regulation of protein localization (GO:0032880)|renal tubule development (GO:0061326)|sensory perception of smell (GO:0007608)|sensory processing (GO:0050893)	BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						GCACGCAGAGTGGAAGGCCAG	0.498																																					p.S129R		Atlas-SNP	.											.	TTC8	42	.	0			c.T387A						PASS	.						67.0	75.0	72.0					14																	89307438		2203	4300	6503	SO:0001583	missense	123016	exon5			GCAGAGTGGAAGG	AK093891	CCDS9885.1, CCDS9886.1, CCDS32137.1, CCDS73674.1, CCDS73675.1	14q31.3	2013-02-14				ENSG00000165533		"""Tetratricopeptide (TTC) repeat domain containing"""	20087	protein-coding gene	gene with protein product		608132				14520415, 20451172	Standard	NM_144596		Approved	BBS8, RP51	uc001xxi.3	Q8TAM2		ENST00000345383.5:c.357T>A	chr14.hg19:g.89307438T>A	ENSP00000339486:p.Ser119Arg	114.0	0.0	.		127.0	52.0	.	NM_144596	A6NFG2|B3KWA5|Q67B97|Q86SY0|Q86TV9|Q86U26|Q8NDH9|Q96DG8	Missense_Mutation	SNP	ENST00000345383.5	hg19	CCDS9885.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	17.54|17.54|17.54	3.414274|3.414274|3.414274	0.62511|0.62511|0.62511	.|.|.	.|.|.	ENSG00000165533|ENSG00000165533|ENSG00000165533	ENST00000345383;ENST00000346301;ENST00000338104;ENST00000380656;ENST00000556651|ENST00000554686|ENST00000343648	T;T;T;T|.|.	0.80738|.|.	-1.3;-1.39;-1.41;-1.3|.|.	5.46|5.46|5.46	1.8|1.8|1.8	0.24995|0.24995|0.24995	.|.|.	0.153416|.|.	0.56097|.|.	D|.|.	0.000029|.|.	T|T|T	0.68613|0.68613|0.68613	0.3020|0.3020|0.3020	M|M|M	0.76574|0.76574|0.76574	2.34|2.34|2.34	0.80722|0.80722|0.80722	D|D|D	1|1|1	P;D;B;D;B|.|.	0.54601|.|.	0.808;0.967;0.012;0.967;0.012|.|.	B;P;B;P;B|.|.	0.51918|.|.	0.368;0.595;0.054;0.684;0.054|.|.	T|T|T	0.64045|0.64045|0.64045	-0.6499|-0.6499|-0.6499	10|5|5	0.66056|.|.	D|.|.	0.02|.|.	-16.3432|-16.3432|-16.3432	9.1746|9.1746|9.1746	0.37105|0.37105|0.37105	0.0:0.2088:0.0:0.7912|0.0:0.2088:0.0:0.7912|0.0:0.2088:0.0:0.7912	.|.|.	129;119;129;119;129|.|.	Q8TAM2;G3V2Z9;Q8TAM2-3;G3V324;Q8TAM2-4|.|.	TTC8_HUMAN;.;.;.;.|.|.	R|E|R	119;119;119;129;119|109|171	ENSP00000339486:S119R;ENSP00000298324:S119R;ENSP00000337653:S119R;ENSP00000370031:S129R|.|.	ENSP00000337653:S119R|.|.	S|V|W	+|+|+	3|2|1	2|0|0	TTC8|TTC8|TTC8	88377191|88377191|88377191	0.719000|0.719000|0.719000	0.27986|0.27986|0.27986	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.989000|0.989000|0.989000	0.77384|0.77384|0.77384	-0.225000|-0.225000|-0.225000	0.09151|0.09151|0.09151	0.065000|0.065000|0.065000	0.16485|0.16485|0.16485	0.460000|0.460000|0.460000	0.39030|0.39030|0.39030	AGT|GTG|TGG	.	.	.	none		0.498	TTC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410861.1	NM_144596	
CDC42BPB	9578	hgsc.bcm.edu	37	14	103438368	103438368	+	Missense_Mutation	SNP	T	T	A			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr14:103438368T>A	ENST00000361246.2	-	13	2060	c.1772A>T	c.(1771-1773)aAg>aTg	p.K591M		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)											NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		CACCTTCTGCTTCTGGGCACG	0.617																																					p.K591M		Atlas-SNP	.											.	CDC42BPB	123	.	0			c.A1772T						PASS	.						112.0	95.0	100.0					14																	103438368		2203	4300	6503	SO:0001583	missense	9578	exon13			TTCTGCTTCTGGG	AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"""CDC42-binding protein kinase beta (DMPK-like)"""			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.1772A>T	chr14.hg19:g.103438368T>A	ENSP00000355237:p.Lys591Met	293.0	0.0	.		132.0	60.0	.	NM_006035		Missense_Mutation	SNP	ENST00000361246.2	hg19	CCDS9978.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.560047	0.86335	.	.	ENSG00000198752	ENST00000361246	D	0.82619	-1.63	5.31	4.15	0.48705	.	0.045881	0.85682	D	0.000000	D	0.90456	0.7011	M	0.84948	2.725	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	D	0.90167	0.4232	10	0.56958	D	0.05	.	10.9197	0.47156	0.0:0.0743:0.0:0.9257	.	591	Q9Y5S2	MRCKB_HUMAN	M	591	ENSP00000355237:K591M	ENSP00000355237:K591M	K	-	2	0	CDC42BPB	102508121	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.228000	0.72288	0.860000	0.35481	0.460000	0.39030	AAG	.	.	.	none		0.617	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1	NM_006035	
CEP170B	283638	hgsc.bcm.edu	37	14	105353612	105353612	+	Missense_Mutation	SNP	T	T	G			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr14:105353612T>G	ENST00000414716.3	+	12	3264	c.3036T>G	c.(3034-3036)caT>caG	p.H1012Q	CEP170B_ENST00000418279.1_Missense_Mutation_p.H942Q|CEP170B_ENST00000556508.1_Missense_Mutation_p.H942Q|CEP170B_ENST00000453495.1_Missense_Mutation_p.H1013Q	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	1012						cytoplasm (GO:0005737)|microtubule (GO:0005874)											AGAGGCAGCATCACCCACTTG	0.687																																					p.H1012Q		Atlas-SNP	.											.	.	.	.	0			c.T3036G						PASS	.						11.0	15.0	14.0					14																	105353612		2073	4183	6256	SO:0001583	missense	283638	exon12			GCAGCATCACCCA	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.3036T>G	chr14.hg19:g.105353612T>G	ENSP00000404151:p.His1012Gln	74.0	0.0	.		35.0	14.0	.	NM_001112726	Q2KHR7|Q86TI7	Missense_Mutation	SNP	ENST00000414716.3	hg19	CCDS45175.1	.	.	.	.	.	.	.	.	.	.	T	4.535	0.099232	0.08681	.	.	ENSG00000099814	ENST00000556508;ENST00000414716;ENST00000453495;ENST00000418279	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	3.85	-6.94	0.01633	.	1.152450	0.06494	N	0.735156	T	0.24736	0.0600	N	0.22421	0.69	0.09310	N	1	B;B;B	0.23735	0.002;0.09;0.01	B;B;B	0.16722	0.008;0.016;0.014	T	0.31971	-0.9924	10	0.59425	D	0.04	-0.1639	8.1321	0.31033	0.0:0.3657:0.4378:0.1965	.	1012;1012;942	Q9Y4F5-2;Q9Y4F5;E9PFC1	.;K0284_HUMAN;.	Q	942;1012;1013;942	ENSP00000451249:H942Q;ENSP00000404151:H1012Q;ENSP00000407238:H1013Q;ENSP00000415006:H942Q	ENSP00000404151:H1012Q	H	+	3	2	KIAA0284	104424657	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-3.141000	0.00586	-1.631000	0.01543	-0.537000	0.04273	CAT	.	.	.	none		0.687	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000410289.2	NM_001112726	
CATSPER2	117155	hgsc.bcm.edu	37	15	43928412	43928412	+	Missense_Mutation	SNP	A	A	G			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr15:43928412A>G	ENST00000321596.5	-	8	1047	c.848T>C	c.(847-849)cTc>cCc	p.L283P	RNU6-610P_ENST00000384264.1_RNA|CATSPER2_ENST00000396879.1_Missense_Mutation_p.L283P|CATSPER2_ENST00000354127.4_Missense_Mutation_p.L283P|STRC_ENST00000541030.1_Intron|CATSPER2_ENST00000355438.2_Missense_Mutation_p.L283P|CATSPER2_ENST00000381761.1_Missense_Mutation_p.L289P			Q96P56	CTSR2_HUMAN	cation channel, sperm associated 2	283					calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		GGAATTCGGGAGGTCCCTAAA	0.413																																					p.L283P		Atlas-SNP	.											.	CATSPER2	49	.	0			c.T848C						PASS	.						53.0	54.0	53.0					15																	43928412		2199	4296	6495	SO:0001583	missense	117155	exon8			TTCGGGAGGTCCC	AF411817	CCDS10099.1, CCDS32216.1, CCDS73714.1	15q15.3	2011-07-05			ENSG00000166762	ENSG00000166762		"""Voltage-gated ion channels / Cation channels, sperm associated"""	18810	protein-coding gene	gene with protein product		607249				11675491, 16382101	Standard	NM_172095		Approved		uc001zsh.3	Q96P56	OTTHUMG00000059902	ENST00000321596.5:c.848T>C	chr15.hg19:g.43928412A>G	ENSP00000321463:p.Leu283Pro	52.0	0.0	.		73.0	28.0	.	NM_054020	Q8NHT9|Q96P54|Q96P55	Missense_Mutation	SNP	ENST00000321596.5	hg19	CCDS10099.1	.	.	.	.	.	.	.	.	.	.	A	5.296	0.239992	0.10023	.	.	ENSG00000166762	ENST00000396879;ENST00000299989;ENST00000381761;ENST00000321596;ENST00000354127;ENST00000355438	D;D;D;D;D	0.98585	-5.01;-5.01;-5.01;-5.01;-5.01	4.81	4.81	0.61882	Ion transport (1);	0.856615	0.09979	N	0.731205	D	0.97885	0.9305	M	0.82823	2.61	0.33841	D	0.631417	B;B	0.29481	0.206;0.245	B;B	0.35727	0.133;0.209	D	0.99974	1.2121	10	0.87932	D	0	.	10.6643	0.45721	1.0:0.0:0.0:0.0	.	289;283	F8W9H2;Q96P56	.;CTSR2_HUMAN	P	283;283;289;283;283;283	ENSP00000380088:L283P;ENSP00000371180:L289P;ENSP00000321463:L283P;ENSP00000339137:L283P;ENSP00000347613:L283P	ENSP00000299989:L283P	L	-	2	0	CATSPER2	41715704	0.211000	0.23529	0.127000	0.21898	0.013000	0.08279	3.770000	0.55310	2.013000	0.59113	0.533000	0.62120	CTC	.	.	.	none		0.413	CATSPER2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133151.2	NM_054020	
NEO1	4756	hgsc.bcm.edu	37	15	73590713	73590713	+	Missense_Mutation	SNP	C	C	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr15:73590713C>T	ENST00000339362.5	+	28	4373	c.3926C>T	c.(3925-3927)aCt>aTt	p.T1309I	NEO1_ENST00000558964.1_Missense_Mutation_p.T1298I|NEO1_ENST00000560262.1_Missense_Mutation_p.T1256I|NEO1_ENST00000261908.6_Missense_Mutation_p.T1309I			Q92859	NEO1_HUMAN	neogenin 1	1309					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|iron ion homeostasis (GO:0055072)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						ACCCCCAGCACTGACACCATG	0.483																																					p.T1309I		Atlas-SNP	.											.	NEO1	102	.	0			c.C3926T						PASS	.						81.0	76.0	78.0					15																	73590713		2198	4297	6495	SO:0001583	missense	4756	exon27			CCAGCACTGACAC	U61262	CCDS10247.1, CCDS53957.1, CCDS58378.1	15q22.3-q23	2014-06-20	2010-06-24		ENSG00000067141	ENSG00000067141		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7754	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 2"""	601907	"""neogenin (chicken) homolog 1"""			9121761	Standard	NM_002499		Approved	NGN, HsT17534, IGDCC2, NTN1R2	uc002avm.4	Q92859	OTTHUMG00000133509	ENST00000339362.5:c.3926C>T	chr15.hg19:g.73590713C>T	ENSP00000341198:p.Thr1309Ile	88.0	0.0	.		70.0	36.0	.	NM_002499	B7ZKM9|B7ZKN0|O00340|Q17RX1	Missense_Mutation	SNP	ENST00000339362.5	hg19	CCDS10247.1	.	.	.	.	.	.	.	.	.	.	C	19.96	3.924141	0.73213	.	.	ENSG00000067141	ENST00000339362;ENST00000379842;ENST00000261908	T	0.42900	0.96	5.28	5.28	0.74379	Neogenin, C-terminal (1);	0.294982	0.37857	N	0.001913	T	0.32704	0.0838	N	0.14661	0.345	0.41912	D	0.990476	B;B;B;P	0.37594	0.408;0.408;0.372;0.601	B;B;B;B	0.42959	0.304;0.324;0.295;0.403	T	0.16247	-1.0409	10	0.36615	T	0.2	-15.6613	14.1931	0.65652	0.0:0.8505:0.1495:0.0	.	1256;1298;1020;1309	B7ZKM9;B7ZKN0;E7EUX3;Q92859	.;.;.;NEO1_HUMAN	I	1256;1020;1309	ENSP00000261908:T1309I	ENSP00000261908:T1309I	T	+	2	0	NEO1	71377766	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.492000	0.66893	2.479000	0.83701	0.655000	0.94253	ACT	.	.	.	none		0.483	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257472.2	NM_002499	
IREB2	3658	hgsc.bcm.edu	37	15	78755356	78755356	+	Missense_Mutation	SNP	T	T	A			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr15:78755356T>A	ENST00000258886.8	+	3	348	c.199T>A	c.(199-201)Tta>Ata	p.L67I	IREB2_ENST00000560440.1_Missense_Mutation_p.L67I	NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	67					aging (GO:0007568)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|erythrocyte homeostasis (GO:0034101)|intestinal absorption (GO:0050892)|iron ion transport (GO:0006826)|osteoclast differentiation (GO:0030316)|post-embryonic development (GO:0009791)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to iron(II) ion (GO:0010040)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|translation repressor activity (GO:0030371)			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		TATGAACATTTTAGACTGGAA	0.378																																					p.L67I	NSCLC(200;764 2208 35157 49871 50830)	Atlas-SNP	.											.	IREB2	106	.	0			c.T199A						PASS	.						214.0	201.0	205.0					15																	78755356		2196	4293	6489	SO:0001583	missense	3658	exon3			AACATTTTAGACT	M58511	CCDS10302.1	15q25.1	2013-09-20			ENSG00000136381	ENSG00000136381			6115	protein-coding gene	gene with protein product		147582				2172968	Standard	NM_004136		Approved	IRP2	uc002bdr.2	P48200	OTTHUMG00000143861	ENST00000258886.8:c.199T>A	chr15.hg19:g.78755356T>A	ENSP00000258886:p.Leu67Ile	107.0	0.0	.		183.0	75.0	.	NM_004136	A8KAC7|E1CJT9|H0YKU0|Q13095|Q1HE21|Q59FQ7|Q8WVK6|Q9UF17	Missense_Mutation	SNP	ENST00000258886.8	hg19	CCDS10302.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.018887	0.75275	.	.	ENSG00000136381	ENST00000258886	T	0.44881	0.91	5.87	3.57	0.40892	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 1/3 (1);Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha (2);	0.000000	0.85682	D	0.000000	T	0.53254	0.1785	L	0.52573	1.65	0.51482	D	0.999929	D;P	0.69078	0.997;0.577	D;P	0.91635	0.999;0.774	T	0.42616	-0.9441	10	0.23891	T	0.37	.	10.2319	0.43260	0.0:0.1334:0.0:0.8666	.	67;67	P48200;Q8WVK6	IREB2_HUMAN;.	I	67	ENSP00000258886:L67I	ENSP00000258886:L67I	L	+	1	2	IREB2	76542411	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	0.725000	0.25970	0.574000	0.29417	0.533000	0.62120	TTA	.	.	.	none		0.378	IREB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290109.3	NM_004136	
CEMIP	57214	hgsc.bcm.edu	37	15	81166242	81166242	+	Missense_Mutation	SNP	G	G	C			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr15:81166242G>C	ENST00000394685.3	+	3	441	c.22G>C	c.(22-24)Gac>Cac	p.D8H	KIAA1199_ENST00000356249.5_Missense_Mutation_p.D8H|KIAA1199_ENST00000220244.3_Missense_Mutation_p.D8H			Q8WUJ3	CEMIP_HUMAN		8					hyaluronan catabolic process (GO:0030214)|positive regulation of cell migration (GO:0030335)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase C activity (GO:1900020)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|sensory perception of sound (GO:0007605)	clathrin-coated vesicle membrane (GO:0030665)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	clathrin heavy chain binding (GO:0032050)|ER retention sequence binding (GO:0046923)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)	p.D8N(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TGGGAGGCAGGACTTCCTCTT	0.577																																					p.D8H		Atlas-SNP	.											KIAA1199,NS,carcinoma,0,1	KIAA1199	118	.	1	Substitution - Missense(1)	kidney(1)	c.G22C						PASS	.						70.0	54.0	60.0					15																	81166242		2202	4298	6500	SO:0001583	missense	57214	exon2			AGGCAGGACTTCC																												ENST00000394685.3:c.22G>C	chr15.hg19:g.81166242G>C	ENSP00000378177:p.Asp8His	15.0	0.0	.		8.0	2.0	.	NM_018689	Q6L9J5|Q9H1K5|Q9NPN9|Q9ULM1	Missense_Mutation	SNP	ENST00000394685.3	hg19	CCDS10315.1	.	.	.	.	.	.	.	.	.	.	G	8.342	0.828847	0.16749	.	.	ENSG00000103888	ENST00000220244;ENST00000394685;ENST00000356249;ENST00000394683	T;T;T	0.66460	-0.21;-0.21;-0.21	4.92	-2.97	0.05530	.	6.948940	0.00166	N	0.000000	T	0.48537	0.1505	L	0.27053	0.805	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.17806	-1.0357	10	0.14656	T	0.56	-8.0685	5.165	0.15081	0.3585:0.2796:0.3619:0.0	.	8	Q8WUJ3	K1199_HUMAN	H	8	ENSP00000220244:D8H;ENSP00000378177:D8H;ENSP00000348583:D8H	ENSP00000220244:D8H	D	+	1	0	KIAA1199	78953297	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.356000	0.02609	-0.329000	0.08527	-0.165000	0.13383	GAC	.	.	.	none		0.577	KIAA1199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291389.1		
SRCAP	10847	hgsc.bcm.edu	37	16	30733505	30733505	+	Missense_Mutation	SNP	G	G	A			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr16:30733505G>A	ENST00000262518.4	+	22	3989	c.3604G>A	c.(3604-3606)Ggg>Agg	p.G1202R	SRCAP_ENST00000344771.4_Missense_Mutation_p.G1106R|SRCAP_ENST00000395059.2_Missense_Mutation_p.G1202R	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1202	Pro-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)			GGCTAATGCAGGGGGAAGCAA	0.572																																					p.G1202R		Atlas-SNP	.											.	SRCAP	298	.	0			c.G3604A						PASS	.						129.0	107.0	114.0					16																	30733505		2197	4300	6497	SO:0001583	missense	10847	exon22			AATGCAGGGGGAA	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.3604G>A	chr16.hg19:g.30733505G>A	ENSP00000262518:p.Gly1202Arg	245.0	0.0	.		102.0	38.0	.	NM_006662	B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	hg19	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	G	15.91	2.973443	0.53614	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.90900	-2.71;-2.68;-2.75	4.68	4.68	0.58851	.	0.000000	0.49305	D	0.000153	D	0.85961	0.5819	N	0.14661	0.345	0.20821	N	0.999846	P;D;P	0.53462	0.859;0.96;0.933	P;P;P	0.51229	0.572;0.663;0.462	T	0.78420	-0.2211	10	0.31617	T	0.26	-8.9406	12.9347	0.58307	0.0:0.1644:0.8356:0.0	.	1106;1202;1202	Q6ZRS2-3;Q6ZRS2-2;Q6ZRS2	.;.;SRCAP_HUMAN	R	1202;1202;1106	ENSP00000262518:G1202R;ENSP00000378499:G1202R;ENSP00000343042:G1106R	ENSP00000262518:G1202R	G	+	1	0	SRCAP	30641006	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.941000	0.49011	2.414000	0.81942	0.462000	0.41574	GGG	.	.	.	none		0.572	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662	
CDH8	1006	hgsc.bcm.edu	37	16	61851550	61851550	+	Silent	SNP	C	C	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr16:61851550C>T	ENST00000577390.1	-	7	2064	c.1110G>A	c.(1108-1110)ggG>ggA	p.G370G	CDH8_ENST00000577730.1_Silent_p.G370G|CDH8_ENST00000584337.1_Silent_p.G370G|CDH8_ENST00000299345.6_Silent_p.G370G	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	370	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		CTTTAAAGGGCCCCCTGCCAC	0.468																																					p.G370G		Atlas-SNP	.											.	CDH8	273	.	0			c.G1110A						PASS	.						86.0	68.0	74.0					16																	61851550		2203	4300	6503	SO:0001819	synonymous_variant	1006	exon7			AAAGGGCCCCCTG	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.1110G>A	chr16.hg19:g.61851550C>T		82.0	0.0	.		90.0	44.0	.	NM_001796	B3KWC1|Q14DC6|Q9ULB2	Silent	SNP	ENST00000577390.1	hg19	CCDS10802.1																																																																																			.	.	.	none		0.468	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796	
CDT1	81620	hgsc.bcm.edu	37	16	88872437	88872437	+	Missense_Mutation	SNP	G	G	A	rs368718178		TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr16:88872437G>A	ENST00000301019.4	+	6	1460	c.841G>A	c.(841-843)Gga>Aga	p.G281R		NM_030928.3	NP_112190.2			chromatin licensing and DNA replication factor 1											central_nervous_system(1)|endometrium(2)|kidney(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(80;0.0476)		AGAGGCTGACGGAGCAGCCCC	0.672																																					p.G281R	Melanoma(159;511 3380 30971)	Atlas-SNP	.											.	CDT1	30	.	0			c.G841A						PASS	.	G	ARG/GLY	1,4361		0,1,2180	15.0	17.0	16.0		841	-3.5	0.0	16		16	0,8566		0,0,4283	no	missense	CDT1	NM_030928.3	125	0,1,6463	AA,AG,GG		0.0,0.0229,0.0077	possibly-damaging	281/547	88872437	1,12927	2181	4283	6464	SO:0001583	missense	81620	exon6			GCTGACGGAGCAG	AF070552	CCDS32510.1	16q24.3	2014-08-12			ENSG00000167513	ENSG00000167513			24576	protein-coding gene	gene with protein product		605525				11896191, 11555648	Standard	NM_030928		Approved	DUP, RIS2	uc002flu.3	Q9H211	OTTHUMG00000173467	ENST00000301019.4:c.841G>A	chr16.hg19:g.88872437G>A	ENSP00000301019:p.Gly281Arg	36.0	0.0	.		12.0	5.0	.	NM_030928		Missense_Mutation	SNP	ENST00000301019.4	hg19	CCDS32510.1	.	.	.	.	.	.	.	.	.	.	G	13.49	2.253471	0.39797	2.29E-4	0.0	ENSG00000167513	ENST00000301019	T	0.23552	1.9	4.83	-3.49	0.04724	.	1.014200	0.07884	N	0.970068	T	0.13030	0.0316	L	0.35487	1.065	0.30312	N	0.788448	P	0.51351	0.944	B	0.38458	0.274	T	0.37033	-0.9723	10	0.20046	T	0.44	.	4.4942	0.11828	0.0996:0.2944:0.5056:0.1004	.	281	Q9H211	CDT1_HUMAN	R	281	ENSP00000301019:G281R	ENSP00000301019:G281R	G	+	1	0	CDT1	87399938	0.003000	0.15002	0.000000	0.03702	0.004000	0.04260	0.790000	0.26900	-0.552000	0.06167	0.462000	0.41574	GGA	.	.	.	weak		0.672	CDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000423215.1	NM_030928	
MAP2K4	6416	hgsc.bcm.edu	37	17	12016635	12016635	+	Silent	SNP	T	T	C			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr17:12016635T>C	ENST00000353533.5	+	7	834	c.771T>C	c.(769-771)tcT>tcC	p.S257S	MAP2K4_ENST00000581941.1_3'UTR|MAP2K4_ENST00000415385.3_Silent_p.S268S	NM_003010.2	NP_003001.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	257	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron apoptotic process (GO:0043525)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|nucleus (GO:0005634)|perikaryon (GO:0043204)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.0?(10)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		TTGTGGACTCTATTGCCAAGA	0.453			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""																																p.S257S		Atlas-SNP	.		Rec	yes		17	17p11.2	6416	mitogen-activated protein kinase kinase 4		E	.	MAP2K4	176	.	11	Whole gene deletion(10)|Unknown(1)	ovary(4)|breast(4)|biliary_tract(1)|large_intestine(1)|pancreas(1)	c.T771C						PASS	.						105.0	101.0	102.0					17																	12016635		2203	4300	6503	SO:0001819	synonymous_variant	6416	exon7			GGACTCTATTGCC	L36870	CCDS11162.1, CCDS62095.1	17p12	2012-03-23			ENSG00000065559	ENSG00000065559	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6844	protein-coding gene	gene with protein product		601335		SERK1		7716521	Standard	NM_003010		Approved	MEK4, JNKK1, PRKMK4, MKK4	uc002gnj.3	P45985		ENST00000353533.5:c.771T>C	chr17.hg19:g.12016635T>C		81.0	0.0	.		159.0	104.0	.	NM_003010	B2R7N7|B3KYB2|D3DTS5|Q5U0B8|Q6FHX4|Q6P9H2|Q6PIE6	Silent	SNP	ENST00000353533.5	hg19	CCDS11162.1																																																																																			.	.	.	none		0.453	MAP2K4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441226.1		
NAGLU	4669	hgsc.bcm.edu	37	17	40695935	40695935	+	Silent	SNP	C	C	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr17:40695935C>T	ENST00000225927.2	+	6	2012	c.1911C>T	c.(1909-1911)ttC>ttT	p.F637F	RP11-400F19.8_ENST00000585572.1_RNA	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN	N-acetylglucosaminidase, alpha	637					carbohydrate metabolic process (GO:0005975)|cerebellar Purkinje cell layer development (GO:0021680)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|inner ear receptor cell development (GO:0060119)|locomotor rhythm (GO:0045475)|lysosome organization (GO:0007040)|middle ear morphogenesis (GO:0042474)|nervous system development (GO:0007399)|retinal rod cell development (GO:0046548)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	alpha-N-acetylglucosaminidase activity (GO:0004561)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	AGGCCGATTTCTACGAGCAGA	0.627																																					p.F637F		Atlas-SNP	.											.	NAGLU	36	.	0			c.C1911T						PASS	.						25.0	21.0	22.0					17																	40695935		2202	4295	6497	SO:0001819	synonymous_variant	4669	exon6			CGATTTCTACGAG		CCDS11427.1	17q21.2	2010-07-27	2010-07-27		ENSG00000108784	ENSG00000108784	3.2.1.50		7632	protein-coding gene	gene with protein product	"""Sanfilippo disease IIIB"""	609701					Standard	XM_006721920		Approved	NAG	uc002hzv.3	P54802		ENST00000225927.2:c.1911C>T	chr17.hg19:g.40695935C>T		43.0	0.0	.		21.0	10.0	.	NM_000263		Silent	SNP	ENST00000225927.2	hg19	CCDS11427.1																																																																																			.	.	.	none		0.627	NAGLU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450385.1	NM_000263	
LSM12	124801	hgsc.bcm.edu	37	17	42117589	42117589	+	Silent	SNP	C	C	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr17:42117589C>T	ENST00000591247.1	-	4	616	c.294G>A	c.(292-294)aaG>aaA	p.K98K	LSM12_ENST00000293406.3_Silent_p.K98K|LSM12_ENST00000585388.1_Silent_p.K98K	NM_152344.3	NP_689557.1	Q3MHD2	LSM12_HUMAN	LSM12 homolog (S. cerevisiae)	98										NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	6		Breast(137;0.0313)|Prostate(33;0.0861)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CCTGGCTCAGCTTCTCCTCCT	0.517																																					p.K98K		Atlas-SNP	.											.	LSM12	16	.	0			c.G294A						PASS	.						99.0	72.0	81.0					17																	42117589		2203	4300	6503	SO:0001819	synonymous_variant	124801	exon4			GCTCAGCTTCTCC	BC044587	CCDS11475.1	17q21.31	2007-08-21				ENSG00000161654			26407	protein-coding gene	gene with protein product		611793				15225602	Standard	NM_152344		Approved	FLJ30656	uc002iev.3	Q3MHD2		ENST00000591247.1:c.294G>A	chr17.hg19:g.42117589C>T		60.0	0.0	.		67.0	42.0	.	NM_152344	Q86YB1|Q96NL5	Silent	SNP	ENST00000591247.1	hg19	CCDS11475.1																																																																																			.	.	.	none		0.517	LSM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457672.1	NM_152344	
AMH	268	hgsc.bcm.edu	37	19	2249551	2249551	+	Missense_Mutation	SNP	G	G	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr19:2249551G>T	ENST00000221496.4	+	1	242	c.220G>T	c.(220-222)Ggg>Tgg	p.G74W	MIR4321_ENST00000592276.1_RNA	NM_000479.3	NP_000470	P03971	MIS_HUMAN	anti-Mullerian hormone	74					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)			lung(2)	2		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)		GCGGGTGGTGGGGGCTCTAAG	0.692									Persistant Mullerian Duct Syndrome (type I and II)																												p.G74W		Atlas-SNP	.											.	AMH	12	.	0			c.G220T						PASS	.						8.0	11.0	10.0					19																	2249551		2163	4282	6445	SO:0001583	missense	268	exon1	Familial Cancer Database	PMDS, Persistent Oviduct Syndrome	GTGGTGGGGGCTC	K03474	CCDS12085.1	19p13.3	2014-01-30				ENSG00000104899		"""Endogenous ligands"""	464	protein-coding gene	gene with protein product		600957				3754790, 18784351	Standard	NM_000479		Approved	MIS	uc002lvh.2	P03971		ENST00000221496.4:c.220G>T	chr19.hg19:g.2249551G>T	ENSP00000221496:p.Gly74Trp	33.0	0.0	.		11.0	6.0	.	NM_000479	O75246|Q6GTN3	Missense_Mutation	SNP	ENST00000221496.4	hg19	CCDS12085.1	.	.	.	.	.	.	.	.	.	.	G	11.06	1.527815	0.27299	.	.	ENSG00000104899	ENST00000221496	D	0.94687	-3.49	3.75	3.75	0.43078	.	0.168909	0.38548	U	0.001642	D	0.95010	0.8385	L	0.34521	1.04	0.44555	D	0.997518	D	0.89917	1.0	D	0.91635	0.999	D	0.95614	0.8675	10	0.87932	D	0	-23.8931	14.1364	0.65291	0.0:0.0:1.0:0.0	.	74	P03971	MIS_HUMAN	W	74	ENSP00000221496:G74W	ENSP00000221496:G74W	G	+	1	0	AMH	2200551	1.000000	0.71417	0.103000	0.21229	0.001000	0.01503	5.367000	0.66127	1.657000	0.50732	0.462000	0.41574	GGG	.	.	.	none		0.692	AMH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451276.3	NM_000479	
CLEC4M	10332	hgsc.bcm.edu	37	19	7832420	7832420	+	Missense_Mutation	SNP	A	A	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr19:7832420A>T	ENST00000327325.5	+	6	1073	c.955A>T	c.(955-957)Act>Tct	p.T319S	CLEC4M_ENST00000359059.5_Missense_Mutation_p.T252S|CLEC4M_ENST00000248228.4_Missense_Mutation_p.T297S|CLEC4M_ENST00000595496.1_Missense_Mutation_p.T183S|CLEC4M_ENST00000596707.1_Missense_Mutation_p.T252S|CLEC4M_ENST00000596363.1_Intron|CLEC4M_ENST00000394122.2_Missense_Mutation_p.T307S|CLEC4M_ENST00000334806.5_Missense_Mutation_p.T268S|CLEC4M_ENST00000597522.1_Intron|CLEC4M_ENST00000357361.2_Intron	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	319	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|ICAM-3 receptor activity (GO:0030369)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|receptor activity (GO:0004872)|virion binding (GO:0046790)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						ACAGCTGCAGACTTCCAGGAG	0.552																																					p.T319S		Atlas-SNP	.											CLEC4M,NS,carcinoma,0,1	CLEC4M	58	.	0			c.A955T						PASS	.						102.0	89.0	94.0					19																	7832420		2203	4300	6503	SO:0001583	missense	10332	exon6			CTGCAGACTTCCA	AB015629	CCDS12187.1, CCDS59346.1, CCDS59347.1, CCDS59348.1	19p13	2008-02-05	2005-02-04	2005-02-11		ENSG00000104938		"""C-type lectin domain containing"", ""CD molecules"""	13523	protein-coding gene	gene with protein product		605872	"""CD299 antigen"""	CD209L, CD299		10072769	Standard	NM_001144904		Approved	HP10347, DC-SIGNR, LSIGN, DCSIGNR, DC-SIGN2	uc010dvt.3	Q9H2X3		ENST00000327325.5:c.955A>T	chr19.hg19:g.7832420A>T	ENSP00000316228:p.Thr319Ser	100.0	0.0	.		90.0	6.0	.	NM_014257	A6NKI4|A8K8B3|Q69F40|Q969M4|Q96QP3|Q96QP4|Q96QP5|Q96QP6|Q9BXS3|Q9H2Q9|Q9H8F0|Q9Y2A8	Missense_Mutation	SNP	ENST00000327325.5	hg19	CCDS12187.1	.	.	.	.	.	.	.	.	.	.	A	0.007	-1.947181	0.00475	.	.	ENSG00000104938	ENST00000327325;ENST00000394122;ENST00000248228;ENST00000334806;ENST00000359059	T;T;T;T;T	0.16897	2.31;2.31;2.31;2.31;2.31	2.42	-4.84	0.03151	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	.	.	.	.	T	0.08044	0.0201	N	0.25426	0.745	0.09310	N	0.999998	B;B;B;B;B;B	0.09022	0.002;0.0;0.001;0.0;0.001;0.001	B;B;B;B;B;B	0.13407	0.007;0.0;0.004;0.007;0.002;0.009	T	0.38735	-0.9647	9	0.13108	T	0.6	.	3.4919	0.07641	0.3644:0.0:0.3242:0.3114	.	268;252;319;307;296;183	B4E2Z5;Q9H2X3-5;Q9H2X3;E7ENS9;Q9H2X3-8;Q9H2X3-7	.;.;CLC4M_HUMAN;.;.;.	S	319;307;297;268;252	ENSP00000316228:T319S;ENSP00000377680:T307S;ENSP00000248228:T297S;ENSP00000335228:T268S;ENSP00000351954:T252S	ENSP00000248228:T297S	T	+	1	0	CLEC4M	7738420	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.311000	0.08124	-2.225000	0.00724	-2.665000	0.00146	ACT	.	.	.	none		0.552	CLEC4M-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461161.1	NM_014257	
SNPH	9751	hgsc.bcm.edu	37	20	1286555	1286555	+	Missense_Mutation	SNP	C	C	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr20:1286555C>T	ENST00000381873.3	+	6	1578	c.1342C>T	c.(1342-1344)Cgg>Tgg	p.R448W	SNPH_ENST00000381867.1_Missense_Mutation_p.R492W	NM_014723.2	NP_055538.2	O15079	SNPH_HUMAN	syntaphilin	448					brain development (GO:0007420)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|synaptic vesicle docking involved in exocytosis (GO:0016081)	cell junction (GO:0030054)|cytoplasmic microtubule (GO:0005881)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)	syntaxin-1 binding (GO:0017075)			endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						CCGCTCCCAGCGGCGCCAGGG	0.672																																					p.R448W		Atlas-SNP	.											.	SNPH	89	.	0			c.C1342T						PASS	.						16.0	10.0	12.0					20																	1286555		2131	4210	6341	SO:0001583	missense	9751	exon6			TCCCAGCGGCGCC		CCDS13012.1	20p13	2008-07-02			ENSG00000101298	ENSG00000101298			15931	protein-coding gene	gene with protein product		604942				10707983	Standard	NM_014723		Approved	bA314N13.5	uc002wes.3	O15079	OTTHUMG00000031662	ENST00000381873.3:c.1342C>T	chr20.hg19:g.1286555C>T	ENSP00000371297:p.Arg448Trp	33.0	0.0	.		13.0	7.0	.	NM_014723	Q8IYI3	Missense_Mutation	SNP	ENST00000381873.3	hg19	CCDS13012.1	.	.	.	.	.	.	.	.	.	.	C	15.03	2.712880	0.48517	.	.	ENSG00000101298	ENST00000381873;ENST00000381867	.	.	.	4.24	1.16	0.20824	.	0.431073	0.21513	N	0.073349	T	0.59729	0.2215	M	0.62723	1.935	0.31113	N	0.709748	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	T	0.61088	-0.7133	9	0.87932	D	0	-28.0671	7.7271	0.28765	0.5262:0.3946:0.0:0.0791	.	492;448	O15079-2;O15079	.;SNPH_HUMAN	W	448;492	.	ENSP00000371291:R492W	R	+	1	2	SNPH	1234555	0.992000	0.36948	0.981000	0.43875	0.898000	0.52572	0.375000	0.20518	0.083000	0.17047	-0.268000	0.10319	CGG	.	.	.	none		0.672	SNPH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145240.2	NM_014723	
BRWD1	54014	hgsc.bcm.edu	37	21	40641908	40641908	+	Missense_Mutation	SNP	T	T	A	rs540249994		TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr21:40641908T>A	ENST00000333229.2	-	15	1774	c.1447A>T	c.(1447-1449)Att>Ttt	p.I483F	BRWD1_ENST00000342449.3_Missense_Mutation_p.I483F|BRWD1_ENST00000380800.3_Missense_Mutation_p.I483F	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	483					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				GATAACATAATTCTGGAATCA	0.333																																					p.I483F	Melanoma(170;988 1986 4794 16843 39731)	Atlas-SNP	.											.	BRWD1	325	.	0			c.A1447T						PASS	.						105.0	99.0	101.0					21																	40641908		2203	4300	6503	SO:0001583	missense	54014	exon15			ACATAATTCTGGA	AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.1447A>T	chr21.hg19:g.40641908T>A	ENSP00000330753:p.Ile483Phe	20.0	0.0	.		48.0	26.0	.	NM_018963	C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	hg19	CCDS13662.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.9|25.9	4.681151|4.681151	0.88542|0.88542	.|.	.|.	ENSG00000185658|ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800|ENST00000455867	T;T;T|.	0.59224|.	0.28;0.28;0.28|.	5.57|5.57	5.57|5.57	0.84162|0.84162	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.080378|.	0.53938|.	D|.	0.000059|.	T|T	0.45337|0.45337	0.1337|0.1337	L|L	0.27944|0.27944	0.81|0.81	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.999;0.999;1.0|.	D;D;D|.	0.91635|.	0.996;0.999;0.99|.	T|T	0.38200|0.38200	-0.9672|-0.9672	10|5	0.87932|.	D|.	0|.	-10.9067|-10.9067	10.1398|10.1398	0.42728|0.42728	0.0:0.0743:0.0:0.9257|0.0:0.0743:0.0:0.9257	.|.	194;483;483|.	Q5R2U6;Q9NSI6-2;Q9NSI6|.	.;.;BRWD1_HUMAN|.	F|I	483|194	ENSP00000330753:I483F;ENSP00000344333:I483F;ENSP00000370178:I483F|.	ENSP00000330753:I483F|.	I|N	-|-	1|2	0|0	BRWD1|BRWD1	39563778|39563778	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	3.879000|3.879000	0.56138|0.56138	2.130000|2.130000	0.65690|0.65690	0.455000|0.455000	0.32223|0.32223	ATT|AAT	.	.	.	none		0.333	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656	
PDE9A	5152	hgsc.bcm.edu	37	21	44152003	44152003	+	Missense_Mutation	SNP	A	A	G			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr21:44152003A>G	ENST00000291539.6	+	5	446	c.386A>G	c.(385-387)gAg>gGg	p.E129G	PDE9A_ENST00000398236.3_Intron|PDE9A_ENST00000335440.6_Intron|PDE9A_ENST00000335512.4_Intron|PDE9A_ENST00000380328.2_Intron|PDE9A_ENST00000349112.3_Intron|PDE9A_ENST00000398225.3_Missense_Mutation_p.E88G|PDE9A_ENST00000470987.1_Intron|PDE9A_ENST00000398232.3_Missense_Mutation_p.E62G|AP001627.1_ENST00000437426.1_RNA|PDE9A_ENST00000539837.1_Intron|PDE9A_ENST00000398227.3_Intron|PDE9A_ENST00000328862.6_Missense_Mutation_p.E103G|PDE9A_ENST00000398224.3_Intron|PDE9A_ENST00000398234.3_Intron|PDE9A_ENST00000398229.3_Intron	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	129					blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|metabolic process (GO:0008152)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Caffeine(DB00201)	GGACAGGTAGAGCCCAGGCCC	0.652																																					p.E129G		Atlas-SNP	.											.	PDE9A	69	.	0			c.A386G						PASS	.						56.0	59.0	58.0					21																	44152003		2203	4300	6503	SO:0001583	missense	5152	exon5			AGGTAGAGCCCAG	AF048837	CCDS13690.1, CCDS33567.1, CCDS33568.1, CCDS33569.1, CCDS33570.1, CCDS33571.1, CCDS42941.1, CCDS42942.1, CCDS42943.1, CCDS42944.1, CCDS42945.1, CCDS42946.1, CCDS42947.1	21q22.3	2005-11-29			ENSG00000160191	ENSG00000160191	3.1.4.17	"""Phosphodiesterases"""	8795	protein-coding gene	gene with protein product		602973				9624146	Standard	NM_001001584		Approved		uc002zbm.3	O76083	OTTHUMG00000086825	ENST00000291539.6:c.386A>G	chr21.hg19:g.44152003A>G	ENSP00000291539:p.Glu129Gly	121.0	0.0	.		50.0	26.0	.	NM_002606	B2RBI5|B4DFI5|D3DSJ8|D3DSJ9|O75490|O75491|O95225|Q53Y40|Q5QD39|Q86SF7|Q86SI6|Q86SJ3|Q86WN3|Q86WN4|Q86WN5|Q86WN6|Q86WN7|Q86WN8|Q86WN9|Q86WP0	Missense_Mutation	SNP	ENST00000291539.6	hg19	CCDS13690.1	.	.	.	.	.	.	.	.	.	.	A	5.981	0.364909	0.11296	.	.	ENSG00000160191	ENST00000291539;ENST00000398232;ENST00000328862;ENST00000398225	T;T;T;T	0.69435	-0.37;-0.4;-0.39;-0.38	2.62	-5.23	0.02798	.	2.493450	0.01301	N	0.010305	T	0.41026	0.1141	N	0.08118	0	0.09310	N	1	B;B;B;B	0.19706	0.038;0.003;0.003;0.002	B;B;B;B	0.19391	0.025;0.001;0.001;0.0	T	0.17930	-1.0353	10	0.49607	T	0.09	.	0.789	0.01054	0.4523:0.1816:0.1307:0.2354	.	62;103;88;129	O76083-13;O76083-15;O76083-14;O76083	.;.;.;PDE9A_HUMAN	G	129;62;103;88	ENSP00000291539:E129G;ENSP00000381287:E62G;ENSP00000328699:E103G;ENSP00000381281:E88G	ENSP00000291539:E129G	E	+	2	0	PDE9A	43025072	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	0.271000	0.18626	-2.215000	0.00733	0.383000	0.25322	GAG	.	.	.	none		0.652	PDE9A-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195466.1		
SPECC1L	23384	hgsc.bcm.edu	37	22	24734414	24734414	+	Missense_Mutation	SNP	C	C	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr22:24734414C>T	ENST00000314328.9	+	10	2906	c.2621C>T	c.(2620-2622)aCc>aTc	p.T874I	SPECC1L_ENST00000437398.1_Missense_Mutation_p.T874I|SPECC1L-ADORA2A_ENST00000358654.2_Missense_Mutation_p.T874I|SPECC1L_ENST00000541492.1_Missense_Mutation_p.T874I	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145	Q69YQ0	CYTSA_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1-like	874					actin cytoskeleton organization (GO:0030036)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell migration (GO:0016477)|negative regulation of actin filament depolymerization (GO:0030835)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|gap junction (GO:0005921)|microtubule organizing center (GO:0005815)				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						CCTATGAAAACCCCTCCTGCA	0.498																																					p.T874I		Atlas-SNP	.											.	SPECC1L	85	.	0			c.C2621T						PASS	.						162.0	158.0	160.0					22																	24734414		2203	4300	6503	SO:0001583	missense	23384	exon9			TGAAAACCCCTCC	AK025531	CCDS33619.1, CCDS58797.1	22q11.23	2012-12-20	2010-09-17	2010-09-17	ENSG00000100014	ENSG00000100014			29022	protein-coding gene	gene with protein product	"""cytokinesis and spindle organization A"", ""cytospin A"""	614140	"""SPECC1-like"""			9205841	Standard	NM_001254733		Approved	KIAA0376, CYTSA	uc002zzv.4	Q69YQ0	OTTHUMG00000171450	ENST00000314328.9:c.2621C>T	chr22.hg19:g.24734414C>T	ENSP00000325785:p.Thr874Ile	242.0	0.0	.		216.0	89.0	.	NM_001145468	B7Z758|F5H1H6|O15081	Missense_Mutation	SNP	ENST00000314328.9	hg19	CCDS33619.1	.	.	.	.	.	.	.	.	.	.	c	29.1	4.976045	0.92982	.	.	ENSG00000100014	ENST00000398280;ENST00000437398;ENST00000314328;ENST00000541492	T;T;T	0.53640	0.61;0.61;0.61	5.69	5.69	0.88448	.	0.050156	0.85682	D	0.000000	T	0.69124	0.3076	M	0.68593	2.085	0.80722	D	1	D;P	0.89917	1.0;0.906	D;P	0.91635	0.999;0.521	T	0.69614	-0.5098	10	0.72032	D	0.01	-23.2113	19.1962	0.93690	0.0:1.0:0.0:0.0	.	874;874	F5H1H6;Q69YQ0	.;CYTSA_HUMAN	I	902;874;874;874	ENSP00000393363:T874I;ENSP00000325785:T874I;ENSP00000439633:T874I	ENSP00000325785:T874I	T	+	2	0	SPECC1L	23064414	1.000000	0.71417	0.982000	0.44146	0.996000	0.88848	5.103000	0.64578	2.865000	0.98341	0.655000	0.94253	ACC	.	.	.	none		0.498	SPECC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319986.2	NM_015330	
GGT1	2678	hgsc.bcm.edu	37	22	25023938	25023938	+	Missense_Mutation	SNP	T	T	C			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr22:25023938T>C	ENST00000400382.1	+	13	2083	c.1328T>C	c.(1327-1329)aTc>aCc	p.I443T	GGT1_ENST00000403838.1_Missense_Mutation_p.I99T|GGT1_ENST00000401885.1_Missense_Mutation_p.I99T|GGT1_ENST00000406383.2_Missense_Mutation_p.I443T|GGT1_ENST00000404920.1_Missense_Mutation_p.I99T|GGT1_ENST00000466310.1_3'UTR|GGT1_ENST00000400380.1_Missense_Mutation_p.I443T|GGT1_ENST00000400383.1_Missense_Mutation_p.I443T|GGT1_ENST00000248923.4_Missense_Mutation_p.I443T|GGT1_ENST00000404532.1_Missense_Mutation_p.I99T|GGT1_ENST00000404223.1_Missense_Mutation_p.I99T			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	443					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|cysteine biosynthetic process (GO:0019344)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione catabolic process (GO:0006751)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|regulation of immune system process (GO:0002682)|regulation of inflammatory response (GO:0050727)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|xenobiotic metabolic process (GO:0006805)|zymogen activation (GO:0031638)	anchored component of external side of plasma membrane (GO:0031362)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	GCCAATTTCATCCAGCCAGGT	0.617																																					p.I443T		Atlas-SNP	.											.	GGT1	68	.	0			c.T1328C						PASS	.						42.0	50.0	47.0					22																	25023938		2202	4297	6499	SO:0001583	missense	2678	exon13			ATTTCATCCAGCC	M24903	CCDS42992.1	22q11.23	2008-08-15			ENSG00000100031	ENSG00000100031	2.3.2.2	"""CD molecules"", ""Gamma-glutamyltransferases"""	4250	protein-coding gene	gene with protein product		612346		GGT		8104871, 18357469	Standard	NM_001288833		Approved	D22S672, D22S732, CD224	uc003aan.1	P19440	OTTHUMG00000030859	ENST00000400382.1:c.1328T>C	chr22.hg19:g.25023938T>C	ENSP00000383232:p.Ile443Thr	225.0	0.0	.		99.0	48.0	.	NM_013430	Q08247|Q14404|Q8TBS1|Q9UMK1	Missense_Mutation	SNP	ENST00000400382.1	hg19	CCDS42992.1	.	.	.	.	.	.	.	.	.	.	.	13.53	2.265969	0.40095	.	.	ENSG00000100031	ENST00000248923;ENST00000412658;ENST00000400382;ENST00000400383;ENST00000400380;ENST00000406383;ENST00000401885;ENST00000404532;ENST00000403838;ENST00000404223;ENST00000404920	T;T;T;T;T;T;T;T;T;T;T	0.09073	3.02;3.02;3.02;3.02;3.02;3.02;3.02;3.02;3.02;3.02;3.02	3.49	3.49	0.39957	.	0.000000	0.85682	D	0.000000	T	0.42086	0.1187	H	0.98256	4.185	0.46901	D	0.999246	D	0.89917	1.0	D	0.79784	0.993	T	0.61232	-0.7104	10	0.87932	D	0	-34.9439	11.6793	0.51448	0.0:0.0:0.0:1.0	.	443	P19440	GGT1_HUMAN	T	443;443;443;443;443;443;99;99;99;99;99	ENSP00000248923:I443T;ENSP00000393537:I443T;ENSP00000383232:I443T;ENSP00000383233:I443T;ENSP00000383231:I443T;ENSP00000385975:I443T;ENSP00000384381:I99T;ENSP00000385445:I99T;ENSP00000384820:I99T;ENSP00000385016:I99T;ENSP00000385001:I99T	ENSP00000248923:I443T	I	+	2	0	GGT1	23353938	1.000000	0.71417	0.952000	0.39060	0.028000	0.11728	7.217000	0.77982	1.593000	0.50029	0.373000	0.22412	ATC	.	.	.	none		0.617	GGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250797.1	NM_013430	
CHKB	1120	hgsc.bcm.edu	37	22	51018475	51018475	+	Silent	SNP	A	A	C			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr22:51018475A>C	ENST00000406938.2	-	8	1072	c.855T>G	c.(853-855)gtT>gtG	p.V285V	CHKB-CPT1B_ENST00000452668.1_5'Flank|CPT1B_ENST00000405237.3_5'Flank|CHKB_ENST00000463053.1_5'Flank|CHKB-CPT1B_ENST00000453634.1_5'Flank|CPT1B_ENST00000440709.1_5'Flank|CHKB-AS1_ENST00000380711.3_RNA|CPT1B_ENST00000312108.7_5'Flank|CPT1B_ENST00000395650.2_5'Flank|CPT1B_ENST00000434492.2_5'Flank|CPT1B_ENST00000360719.2_5'Flank|CPT1B_ENST00000457250.1_5'Flank	NM_005198.4	NP_005189.2	Q9Y259	CHKB_HUMAN	choline kinase beta	285					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|choline kinase activity (GO:0004103)|ethanolamine kinase activity (GO:0004305)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|ovary(3)|skin(1)|urinary_tract(1)	15		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;4.04e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.79e-74)|Epithelial(4;6.17e-70)|GBM - Glioblastoma multiforme(4;5.68e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.205)	Choline(DB00122)	TATAATCATAAACCCACTCAC	0.522																																					p.V285V		Atlas-SNP	.											.	CHKB	40	.	0			c.T855G						PASS	.						88.0	94.0	92.0					22																	51018475		2203	4300	6503	SO:0001819	synonymous_variant	1120	exon8			ATCATAAACCCAC	AB029886	CCDS14099.1	22q13.33	2011-02-16	2004-04-19	2004-04-19	ENSG00000100288	ENSG00000100288			1938	protein-coding gene	gene with protein product		612395	"""choline kinase-like"""	CHKL		9224698, 15003397	Standard	NM_005198		Approved	CHETK	uc003bmv.3	Q9Y259	OTTHUMG00000150275	ENST00000406938.2:c.855T>G	chr22.hg19:g.51018475A>C		125.0	0.0	.		134.0	54.0	.	NM_005198	A0PJM6|Q13388	Silent	SNP	ENST00000406938.2	hg19	CCDS14099.1																																																																																			.	.	.	none		0.522	CHKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317267.3	NM_005198	
DUSP6	1848	hgsc.bcm.edu	37	12	89743102	89743107	+	In_Frame_Del	DEL	CTGGAA	CTGGAA	-			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	CTGGAA	CTGGAA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr12:89743102_89743107delCTGGAA	ENST00000279488.7	-	3	2301_2306	c.1070_1075delTTCCAG	c.(1069-1077)gttccagca>gca	p.VP357del	DUSP6_ENST00000308385.6_In_Frame_Del_p.VP211del|DUSP6_ENST00000547291.1_In_Frame_Del_p.VP232del|DUSP6_ENST00000547140.1_5'Flank	NM_001946.2	NP_001937.2	Q16828	DUS6_HUMAN	dual specificity phosphatase 6	357	Tyrosine-protein phosphatase.				cell differentiation (GO:0030154)|dorsal/ventral pattern formation (GO:0009953)|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 ERK1 and ERK2 cascade (GO:0070373)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of apoptotic process (GO:0043065)|regulation of endodermal cell fate specification (GO:0042663)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of heart growth (GO:0060420)|response to drug (GO:0042493)|response to nitrosative stress (GO:0051409)|response to organic cyclic compound (GO:0014070)|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)|nucleoplasm (GO:0005654)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)			large_intestine(5)|lung(8)|skin(2)|urinary_tract(1)	16						AGCTGCTGTGCTGGAACCCTGTTGTC	0.5																																					p.357_359del	Colon(132;3456 5224)	Atlas-INDEL	.											.	DUSP6	30	.	0			c.1071_1076del						PASS	.																																			SO:0001651	inframe_deletion	1848	exon3			.	BC037236	CCDS9033.1, CCDS9034.1	12q22-q23	2011-06-09				ENSG00000139318		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3072	protein-coding gene	gene with protein product		602748				8626780, 9205128	Standard	NM_001946		Approved	MKP-3, PYST1	uc001tay.3	Q16828		ENST00000279488.7:c.1070_1075delTTCCAG	chr12.hg19:g.89743102_89743107delCTGGAA	ENSP00000279488:p.Val357_Pro358del	146.0	0.0	0		129.0	41.0	0.317829	NM_001946	O75109|Q53Y75|Q9BSH6	In_Frame_Del	DEL	ENST00000279488.7	hg19	CCDS9033.1																																																																																			.	.	.	none		0.500	DUSP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406534.2	NM_001946, NM_022652	
ITGB1	3688	hgsc.bcm.edu	37	10	33201013	33201013	+	Frame_Shift_Del	DEL	G	G	-			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr10:33201013delG	ENST00000396033.2	-	12	1644	c.1509delC	c.(1507-1509)agcfs	p.S503fs	ITGB1_ENST00000302278.3_Frame_Shift_Del_p.S503fs|ITGB1_ENST00000374956.4_Frame_Shift_Del_p.S503fs|ITGB1_ENST00000423113.1_Frame_Shift_Del_p.S503fs	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	503	Cysteine-rich tandem repeats.				axon extension (GO:0048675)|axon guidance (GO:0007411)|B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cardiac muscle cell differentiation (GO:0055007)|cell fate specification (GO:0001708)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular response to ionizing radiation (GO:0071479)|cellular response to mechanical stimulus (GO:0071260)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|formation of radial glial scaffolds (GO:0021943)|G1/S transition of mitotic cell cycle (GO:0000082)|germ cell migration (GO:0008354)|heterotypic cell-cell adhesion (GO:0034113)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|maternal process involved in female pregnancy (GO:0060135)|mesodermal cell differentiation (GO:0048333)|negative regulation of anoikis (GO:2000811)|negative regulation of cell projection organization (GO:0031345)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein transport within lipid bilayer (GO:0032594)|regulation of cell cycle (GO:0051726)|regulation of collagen catabolic process (GO:0010710)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of immune response (GO:0050776)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|response to transforming growth factor beta (GO:0071559)|sarcomere organization (GO:0045214)|tight junction assembly (GO:0070830)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	acrosomal vesicle (GO:0001669)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha1-beta1 complex (GO:0034665)|integrin alpha10-beta1 complex (GO:0034680)|integrin alpha11-beta1 complex (GO:0034681)|integrin alpha2-beta1 complex (GO:0034666)|integrin alpha3-beta1 complex (GO:0034667)|integrin alpha7-beta1 complex (GO:0034677)|integrin alpha8-beta1 complex (GO:0034678)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|intercalated disc (GO:0014704)|invadopodium membrane (GO:0071438)|membrane (GO:0016020)|membrane raft (GO:0045121)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|cell adhesion molecule binding (GO:0050839)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|peptide binding (GO:0042277)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|virus receptor activity (GO:0001618)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)			Antithymocyte globulin(DB00098)	CTTCATCTGTGCTGCATTCAC	0.413																																					p.T504fs		Atlas-INDEL	.											.	ITGB1	156	.	0			c.1510delA						PASS	.						143.0	120.0	128.0					10																	33201013		2203	4300	6503	SO:0001589	frameshift_variant	3688	exon12			.	BC020057	CCDS7174.1	10p11.2	2010-10-13			ENSG00000150093	ENSG00000150093		"""CD molecules"", ""Integrins"""	6153	protein-coding gene	gene with protein product		135630		FNRB, MSK12, MDF2		2524991	Standard	NM_033668		Approved	CD29, GPIIA	uc001iwt.4	P05556	OTTHUMG00000017928	ENST00000396033.2:c.1509delC	chr10.hg19:g.33201013delG	ENSP00000379350:p.Ser503fs	69.0	0.0	0		95.0	41.0	0.431579	NM_133376	A8K6N2|D3DRX9|D3DRY3|D3DRY4|D3DRY5|P78466|P78467|Q13089|Q13090|Q13091|Q13212|Q14622|Q14647|Q29RW2|Q7Z3V1|Q8WUM6	Frame_Shift_Del	DEL	ENST00000396033.2	hg19	CCDS7174.1																																																																																			.	.	.	none		0.413	ITGB1-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047496.1	NM_002211	
MBOAT2	129642	hgsc.bcm.edu	37	2	9002791	9002791	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr2:9002791delA	ENST00000305997.3	-	11	1312	c.1114delT	c.(1114-1116)tggfs	p.W372fs	MBOAT2_ENST00000486484.1_5'UTR	NM_138799.2	NP_620154.2	Q6ZWT7	MBOA2_HUMAN	membrane bound O-acyltransferase domain containing 2	372					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)		MBOAT2/PRKCE(2)	endometrium(2)|kidney(1)|large_intestine(9)|lung(2)|skin(1)	15	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ACCCCGTGCCAAATGGCAGAG	0.408																																					p.W372fs	Ovarian(194;1699 3813 22401)	Atlas-INDEL	.											.	MBOAT2	36	.	0			c.1115delG						PASS	.						96.0	91.0	93.0					2																	9002791		2203	4300	6503	SO:0001589	frameshift_variant	129642	exon11			.	BC016005	CCDS1660.1	2p25	2008-02-05	2006-06-29	2006-06-29	ENSG00000143797	ENSG00000143797			25193	protein-coding gene	gene with protein product		611949	"""O-acyltransferase (membrane bound) domain containing 2"""	OACT2			Standard	NM_138799		Approved	FLJ14415, FLJ90298	uc002qzg.1	Q6ZWT7	OTTHUMG00000090363	ENST00000305997.3:c.1114delT	chr2.hg19:g.9002791delA	ENSP00000302177:p.Trp372fs	61.0	0.0	0		86.0	39.0	0.453488	NM_138799	A9EDR2|Q8NCE7|Q96KY4	Frame_Shift_Del	DEL	ENST00000305997.3	hg19	CCDS1660.1																																																																																			.	.	.	none		0.408	MBOAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206735.1	NM_138799	
POTEF	728378	hgsc.bcm.edu	37	2	130872496	130872496	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr2:130872496delT	ENST00000409914.2	-	5	1167	c.768delA	c.(766-768)aaafs	p.K256fs	POTEF_ENST00000360967.5_Frame_Shift_Del_p.K256fs|POTEF_ENST00000357462.5_Frame_Shift_Del_p.K256fs|POTEF_ENST00000361163.4_Frame_Shift_Del_p.K266fs	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	256					retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						AGAGCAGTGCTTTGGCCATTA	0.338																																					p.A257fs		Atlas-INDEL	.											POTEF,NS,carcinoma,0,2	POTEF	140	.	0			c.769delG						PASS	.						3.0	3.0	3.0					2																	130872496		1247	2882	4129	SO:0001589	frameshift_variant	728378	exon5			.	EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33905	protein-coding gene	gene with protein product			"""ANKRD26-like family C, member 1B"""	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.768delA	chr2.hg19:g.130872496delT	ENSP00000386786:p.Lys256fs	91.0	0.0	0		114.0	18.0	0.157895	NM_001099771	A6NC34	Frame_Shift_Del	DEL	ENST00000409914.2	hg19	CCDS46409.1																																																																																			.	.	.	none		0.338	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	NM_001099771	
TPP1	1200	hgsc.bcm.edu	37	11	6638089	6638089	+	Splice_Site	DEL	A	A	-			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr11:6638089delA	ENST00000299427.6	-	7	749	c.689delT	c.(688-690)ttc>tc	p.F230fs	RP11-732A19.9_ENST00000545572.1_RNA|TPP1_ENST00000533371.1_5'UTR|TPP1_ENST00000534644.1_5'Flank	NM_000391.3	NP_000382.3	P49638	TTPA_HUMAN	tripeptidyl peptidase I	0	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				embryonic placenta development (GO:0001892)|intermembrane transport (GO:0046909)|intracellular pH reduction (GO:0051452)|lipid metabolic process (GO:0006629)|negative regulation of cell death (GO:0060548)|negative regulation of establishment of blood-brain barrier (GO:0090212)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|response to toxic substance (GO:0009636)|transport (GO:0006810)|vitamin E metabolic process (GO:0042360)|vitamin transport (GO:0051180)	cytosol (GO:0005829)|late endosome (GO:0005770)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|transporter activity (GO:0005215)|vitamin E binding (GO:0008431)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)	Vitamin E(DB00163)	CTGCTCCAGGAACTATGGAGG	0.567																																					p.F230fs		Atlas-INDEL	.											.	TPP1	71	.	0			c.690delC						PASS	.						84.0	82.0	83.0					11																	6638089		2201	4296	6497	SO:0001630	splice_region_variant	1200	exon7			.	AF017456	CCDS7770.1	11p15.4	2014-09-17	2004-12-09	2004-12-10	ENSG00000166340	ENSG00000166340			2073	protein-coding gene	gene with protein product	"""TPP I"""	607998	"""ceroid-lipofuscinosis, neuronal 2, late infantile (Jansky-Bielschowsky disease)"", ""spinocerebellar ataxia, autosomal recessive 7"""	CLN2, SCAR7		9653647, 23418007	Standard	NM_000391		Approved		uc001mel.1	O14773	OTTHUMG00000133404	ENST00000299427.6:c.688-1T>-	chr11.hg19:g.6638089delA		171.0	0.0	0		103.0	54.0	0.524272	NM_000391	Q71V64	Frame_Shift_Del	DEL	ENST00000299427.6	hg19	CCDS7770.1																																																																																			.	.	.	none		0.567	TPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257261.2		Frame_Shift_Del
SRCAP	10847	hgsc.bcm.edu	37	16	30733503	30733503	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr16:30733503delC	ENST00000262518.4	+	22	3987	c.3602delC	c.(3601-3603)gcafs	p.A1201fs	SRCAP_ENST00000344771.4_Frame_Shift_Del_p.A1105fs|SRCAP_ENST00000395059.2_Frame_Shift_Del_p.A1201fs	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1201	Pro-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)			GTGGCTAATGCAGGGGGAAGC	0.577																																					p.A1201fs		Atlas-INDEL	.											.	SRCAP	298	.	0			c.3601delG						PASS	.						128.0	106.0	113.0					16																	30733503		2197	4300	6497	SO:0001589	frameshift_variant	10847	exon22			.	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.3602delC	chr16.hg19:g.30733503delC	ENSP00000262518:p.Ala1201fs	238.0	0.0	0		97.0	33.0	0.340206	NM_006662	B0JZA6|O15026|Q7Z744|Q9Y5L9	Frame_Shift_Del	DEL	ENST00000262518.4	hg19	CCDS10689.2																																																																																			.	.	.	none		0.577	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662	
REV3L	5980	hgsc.bcm.edu	37	6	111695488	111695488	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr6:111695488delT	ENST00000358835.3	-	14	4524	c.4070delA	c.(4069-4071)aatfs	p.N1357fs	REV3L_ENST00000435970.1_Frame_Shift_Del_p.N1279fs|REV3L_ENST00000368802.3_Frame_Shift_Del_p.N1357fs|REV3L_ENST00000368805.1_Frame_Shift_Del_p.N1357fs			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1357					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		GTCAAATATATTTTTTTGAAT	0.308								DNA polymerases (catalytic subunits)																													p.N1357fs		Atlas-INDEL	.											.	REV3L	386	.	0			c.4071delT						PASS	.						63.0	69.0	67.0					6																	111695488		2201	4296	6497	SO:0001589	frameshift_variant	5980	exon13			.	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.4070delA	chr6.hg19:g.111695488delT	ENSP00000351697:p.Asn1357fs	55.0	0.0	0		134.0	52.0	0.38806	NM_002912	O43214|Q5TC33	Frame_Shift_Del	DEL	ENST00000358835.3	hg19	CCDS5091.2																																																																																			.	.	.	none		0.308	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912	
CD97	976	hgsc.bcm.edu	37	19	14518917	14518918	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr19:14518917_14518918insA	ENST00000242786.5	+	20	2572_2573	c.2492_2493insA	c.(2491-2496)tcagagfs	p.E832fs	CTC-548K16.5_ENST00000590626.1_RNA|CD97_ENST00000357355.3_Frame_Shift_Ins_p.E783fs|DDX39A_ENST00000592927.1_5'Flank|CD97_ENST00000358600.3_Frame_Shift_Ins_p.E739fs	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	832					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CTCAGGGCATCAGAGTCCGGCA	0.663																																					p.S831fs		Atlas-INDEL	.											.	CD97	86	.	0			c.2492_2493insA						PASS	.																																			SO:0001589	frameshift_variant	976	exon20			.		CCDS32929.1, CCDS32930.1, CCDS32931.1	19p13	2014-08-08	2006-03-28			ENSG00000123146		"""CD molecules"", ""-"", ""GPCR / Class B : Orphans"""	1711	protein-coding gene	gene with protein product	"""leukocyte antigen CD97"", ""seven-span transmembrane protein"", ""seven-transmembrane, heterodimeric receptor associated with inflammation"", ""seven transmembrane helix receptor"""	601211	"""CD97 antigen"""			7636245, 8786105	Standard	NM_078481		Approved	TM7LN1	uc002myl.3	P48960		ENST00000242786.5:c.2493dupA	chr19.hg19:g.14518918_14518918dupA	ENSP00000242786:p.Glu832fs	98.0	0.0	0		47.0	18.0	0.382979	NM_078481	A8K7Z4|B2RBJ9|O00718|O76101|Q8NG72|Q8TBQ7	Frame_Shift_Ins	INS	ENST00000242786.5	hg19	CCDS32929.1																																																																																			.	.	.	none		0.663	CD97-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459821.2	NM_078481	
RBKS	64080	hgsc.bcm.edu	37	2	28004505	28004506	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr2:28004505_28004506insT	ENST00000302188.3	-	8	1697_1698	c.945_946insA	c.(943-948)aaagacfs	p.D316fs	AC110084.1_ENST00000601759.1_Intron	NM_022128.1	NP_071411.1	Q9H477	RBSK_HUMAN	ribokinase	316					D-ribose catabolic process (GO:0019303)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ribokinase activity (GO:0004747)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(172;0.155)					AGCGGAAGGTCTTTTTTGTAAG	0.421																																					p.D316fs		Atlas-INDEL	.											.	RBKS	23	.	0			c.946_947insA						PASS	.																																			SO:0001589	frameshift_variant	64080	exon8			.	BC017425	CCDS1762.1	2p23.3	2008-02-05			ENSG00000171174	ENSG00000171174	2.7.1.15		30325	protein-coding gene	gene with protein product		611132				8382990	Standard	NM_022128		Approved	DKFZp686G13268, RBSK	uc002rlo.1	Q9H477	OTTHUMG00000097833	ENST00000302188.3:c.946dupA	chr2.hg19:g.28004511_28004511dupT	ENSP00000306817:p.Asp316fs	108.0	0.0	0		134.0	42.0	0.313433	NM_022128	A9UK04|B4DV96	Frame_Shift_Ins	INS	ENST00000302188.3	hg19	CCDS1762.1																																																																																			.	.	.	none		0.421	RBKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215118.1	NM_022128	
ATP8B2	57198	hgsc.bcm.edu	37	1	154314963	154314968	+	In_Frame_Del	DEL	GTTTGA	GTTTGA	-			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	GTTTGA	GTTTGA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr1:154314963_154314968delGTTTGA	ENST00000368489.3	+	14	1350_1355	c.1350_1355delGTTTGA	c.(1348-1356)gtgtttgac>gtc	p.FD451del		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	437					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TAGGTGATGTGTTTGACGTCCTGGGA	0.49																																					p.450_452del		Atlas-INDEL	.											.	ATP8B2	158	.	0			c.1349_1354del						PASS	.																																			SO:0001651	inframe_deletion	57198	exon14			.	AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"""ATPases / P-type"""	13534	protein-coding gene	gene with protein product		605867	"""ATPase, class I, type 8B, member 2"""			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.1350_1355delGTTTGA	chr1.hg19:g.154314963_154314968delGTTTGA	ENSP00000357475:p.Phe451_Asp452del	101.0	0.0	0		67.0	13.0	0.19403	NM_020452	B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	In_Frame_Del	DEL	ENST00000368489.3	hg19	CCDS1066.1																																																																																			.	.	.	none		0.490	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087658.2	NM_020452	
TNF	7124	hgsc.bcm.edu	37	6	31545047	31545049	+	In_Frame_Del	DEL	CCC	CCC	-			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	CCC	CCC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr6:31545047_31545049delCCC	ENST00000449264.2	+	4	610_612	c.435_437delCCC	c.(433-438)tgcccc>tgc	p.P146del		NM_000594.3	NP_000585.2	P01375	TNFA_HUMAN	tumor necrosis factor	146					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|activation of MAPKKK activity (GO:0000185)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|calcium-mediated signaling (GO:0019722)|cell activation (GO:0001775)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nicotine (GO:0071316)|cellular response to organic cyclic compound (GO:0071407)|chronic inflammatory response to antigenic stimulus (GO:0002439)|defense response to Gram-positive bacterium (GO:0050830)|embryonic digestive tract development (GO:0048566)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|glucose metabolic process (GO:0006006)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|JNK cascade (GO:0007254)|leukocyte tethering or rolling (GO:0050901)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MAPK cascade (GO:0000165)|necroptotic signaling pathway (GO:0097527)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of branching involved in lung morphogenesis (GO:0061048)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gene expression (GO:0010629)|negative regulation of glucose import (GO:0046325)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of L-glutamate transport (GO:0002037)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of lipid storage (GO:0010888)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|organ morphogenesis (GO:0009887)|osteoclast differentiation (GO:0030316)|positive regulation of apoptotic process (GO:0043065)|positive regulation of calcidiol 1-monooxygenase activity (GO:0060559)|positive regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000343)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of chronic inflammatory response to antigenic stimulus (GO:0002876)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fever generation (GO:0031622)|positive regulation of gene expression (GO:0010628)|positive regulation of hair follicle development (GO:0051798)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of mitosis (GO:0045840)|positive regulation of mononuclear cell migration (GO:0071677)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of podosome assembly (GO:0071803)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein localization to cell surface (GO:2000010)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein transport (GO:0051222)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of synaptic transmission (GO:0050806)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translational initiation by iron (GO:0045994)|positive regulation of vitamin D biosynthetic process (GO:0060557)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|receptor biosynthetic process (GO:0032800)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of immunoglobulin secretion (GO:0051023)|regulation of insulin secretion (GO:0050796)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to salt stress (GO:0009651)|response to virus (GO:0009615)|sequestering of triglyceride (GO:0030730)|skeletal muscle contraction (GO:0003009)|transformed cell apoptotic process (GO:0006927)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	cytokine activity (GO:0005125)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|transcription regulatory region DNA binding (GO:0044212)|tumor necrosis factor receptor binding (GO:0005164)			large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(3)	8		Ovarian(999;0.00556)			Adalimumab(DB00051)|Amrinone(DB01427)|Certolizumab pegol(DB08904)|Chloroquine(DB00608)|Clenbuterol(DB01407)|Epinephrine(DB00668)|Etanercept(DB00005)|Glucosamine(DB01296)|golimumab(DB06674)|Infliximab(DB00065)|Pomalidomide(DB08910)|Pranlukast(DB01411)|Pseudoephedrine(DB00852)|Thalidomide(DB01041)	GCCAAGGCTGCCCCTCCACCCAT	0.611									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																												p.145_146del		Atlas-INDEL	.											.	TNF	15	.	0			c.434_436del						PASS	.																																			SO:0001651	inframe_deletion	7124	exon4	Familial Cancer Database	incl.: Familial Head and Neck Cancer	.	X02910	CCDS4702.1	6p21.3	2013-05-22	2010-05-04		ENSG00000232810	ENSG00000232810		"""Tumor necrosis factor (ligand) superfamily"""	11892	protein-coding gene	gene with protein product	"""TNF superfamily, member 2"""	191160	"""tumor necrosis factor (TNF superfamily, member 2)"""	TNFA		2413547, 6392892	Standard	NM_000594		Approved	TNFSF2, DIF, TNF-alpha	uc003nui.4	P01375	OTTHUMG00000031194	ENST00000449264.2:c.435_437delCCC	chr6.hg19:g.31545047_31545049delCCC	ENSP00000398698:p.Pro146del	259.0	0.0	0		119.0	42.0	0.352941	NM_000594	O43647|Q9P1Q2|Q9UIV3	In_Frame_Del	DEL	ENST00000449264.2	hg19	CCDS4702.1																																																																																			.	.	.	none		0.611	TNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076390.2		
CTTNBP2	83992	hgsc.bcm.edu	37	7	117431390	117431391	+	Frame_Shift_Ins	INS	-	-	C			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr7:117431390_117431391insC	ENST00000160373.3	-	4	1950_1951	c.1859_1860insG	c.(1858-1860)actfs	p.T620fs	CTTNBP2_ENST00000487820.1_5'Flank	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	620					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		CAGGTGCCACAGTTAAATCTAT	0.559																																					p.T620fs		Atlas-INDEL	.											.	CTTNBP2	200	.	0			c.1860_1861insG						PASS	.																																			SO:0001589	frameshift_variant	83992	exon4			.		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.1859_1860insG	chr7.hg19:g.117431390_117431391insC	ENSP00000160373:p.Thr620fs	102.0	0.0	0		103.0	55.0	0.533981	NM_033427	O43389|Q7LG11|Q9C0A5	Frame_Shift_Ins	INS	ENST00000160373.3	hg19	CCDS5774.1																																																																																			.	.	.	none		0.559	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427	
POTEE	445582	hgsc.bcm.edu	37	2	131981572	131981572	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr2:131981572delA	ENST00000356920.5	+	3	860	c.766delA	c.(766-768)aaafs	p.K256fs	PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_Frame_Shift_Del_p.K266fs	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	256					retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											ATTAATGGCCAAAGCACTGCT	0.338																																					p.A255fs		Atlas-INDEL	.											.	.	.	.	0			c.765delC						PASS	.						1.0	1.0	1.0					2																	131981572		992	2313	3305	SO:0001589	frameshift_variant	445582	exon3			.	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33895	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 2"""	608914	"""ANKRD26-like family C, member 1A"""	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.766delA	chr2.hg19:g.131981572delA	ENSP00000439189:p.Lys256fs	69.0	0.0	0		131.0	29.0	0.221374	NM_001083538	Q6S8J4|Q6S8J5|Q6S8J8	Frame_Shift_Del	DEL	ENST00000356920.5	hg19	CCDS46414.1																																																																																			.	.	.	none		0.338	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538	
DAXX	1616	hgsc.bcm.edu	37	6	33287821	33287822	+	Frame_Shift_Ins	INS	-	-	A	rs145347312		TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr6:33287821_33287822insA	ENST00000374542.5	-	5	1635_1636	c.1431_1432insT	c.(1429-1434)gatgaafs	p.E478fs	ZBTB22_ENST00000431845.2_5'Flank|ZBTB22_ENST00000418724.1_5'Flank|DAXX_ENST00000414083.2_Frame_Shift_Ins_p.E403fs|DAXX_ENST00000477162.1_5'UTR|DAXX_ENST00000266000.6_Frame_Shift_Ins_p.E478fs	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	478	Asp/Glu-rich (acidic).|Necessary for interaction with USP7.				activation of JUN kinase activity (GO:0007257)|androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|chromatin remodeling (GO:0006338)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mitotic cytokinesis (GO:0000281)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron death (GO:1901216)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|PML body (GO:0016605)|SWI/SNF superfamily-type complex (GO:0070603)	androgen receptor binding (GO:0050681)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|histone binding (GO:0042393)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|receptor signaling protein activity (GO:0005057)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						tcctcctcttcatcatcctcct	0.505			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM																																p.E490_E491delinsX		Atlas-INDEL	.		Rec	yes		6	6p21.3	1616	death-domain associated protein		E	.	DAXX	111	.	0			c.1468_1469insT						PASS	.																																			SO:0001589	frameshift_variant	1616	exon5			.	AF006041	CCDS4776.1, CCDS59008.1	6p21.3	2008-08-29	2008-08-29			ENSG00000204209			2681	protein-coding gene	gene with protein product		603186	"""death-associated protein 6"""			9407001, 9215629	Standard	NM_001141970		Approved	DAP6	uc011dre.2	Q9UER7		ENST00000374542.5:c.1432dupT	chr6.hg19:g.33287822_33287822dupA	ENSP00000363668:p.Glu478fs	30.0	0.0	0		22.0	10.0	0.454545	NM_001141970	B4E1I3|F5H082|O14747|O15141|O15208|Q5STK9|Q9BWI3	Frame_Shift_Ins	INS	ENST00000374542.5	hg19	CCDS4776.1																																																																																			.	.	.	none		0.505	DAXX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076403.1		
