#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_Drug_Target	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Exon	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_Genome_Plus_Minus_10_Bp	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_NTotCov	i_NVarCov	i_ORegAnno_bin	i_TTotCov	i_TVarCov	i_Transcript_Id	i_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_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
CFAP74	85452	hgsc.bcm.edu	37	1	1895247	1895247	+	IGR	SNP	C	C	A	rs368592608		TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr1:1895247C>A								TMEM52 (44535 upstream) : C1orf222 (24315 downstream)																							AGTAGTTGATCGTGTAGGTGG	0.552																																					p.T545T		Atlas-SNP	.											.	KIAA1751	92	.	0			c.G1635T						.						102.0	108.0	106.0					1																	1895247		1985	4155	6140	SO:0001628	intergenic_variant	85452	exon14			GTTGATCGTGTAG																													chr1.hg19:g.1895247C>A		49.0	0.0		35.0	13.0	NM_001080484		Silent	SNP		hg19																																																																																				.	.	0	0.552								
CHD5	26038	hgsc.bcm.edu	37	1	6228214	6228214	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr1:6228214T>A	ENST00000262450.3	-	2	302	c.203A>T	c.(202-204)aAa>aTa	p.K68I	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0	Interaction with ASNA1/TRC40.				tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CCTCACCTCTTTCTTCTTCCG	0.602																																					p.K68I		Atlas-SNP	.											.	CHD5	267	.	0			c.A203T						.						140.0	137.0	138.0					1																	6228214		2203	4300	6503	SO:0001583	missense	26038	exon2			ACCTCTTTCTTCT	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.203A>T	chr1.hg19:g.6228214T>A	ENSP00000262450:p.Lys68Ile	48.0	0.0		42.0	14.0	NM_015557	A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	hg19	CCDS57.1	.	.	.	.	.	.	.	.	.	.	T	18.52	3.642470	0.67244	.	.	ENSG00000116254	ENST00000262450	D	0.92752	-3.1	4.9	3.78	0.43462	.	0.000000	0.44097	U	0.000482	D	0.92485	0.7614	L	0.58810	1.83	0.80722	D	1	D	0.59357	0.985	P	0.56278	0.795	D	0.90831	0.4716	10	0.56958	D	0.05	-12.4043	7.9342	0.29920	0.0:0.096:0.0:0.904	.	68	Q8TDI0	CHD5_HUMAN	I	68	ENSP00000262450:K68I	ENSP00000262450:K68I	K	-	2	0	CHD5	6150801	1.000000	0.71417	0.998000	0.56505	0.869000	0.49853	2.818000	0.48041	0.717000	0.32145	0.260000	0.18958	AAA	.	.		0.602	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557	
CAMTA1	23261	hgsc.bcm.edu	37	1	7721921	7721921	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr1:7721921G>C	ENST00000303635.7	+	8	1007	c.800G>C	c.(799-801)aGc>aCc	p.S267T	CAMTA1_ENST00000439411.2_Missense_Mutation_p.S267T	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	267					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TGCACCGGCAGCCTGGGTGAG	0.692			T	WWTR1	epitheliod hemangioendothelioma																																p.S267T		Atlas-SNP	.		Dom	yes		1	1p36.31-p36.23	611501	calmodulin binding transcription activator 1		M	.	CAMTA1	226	.	0			c.G800C						.						22.0	22.0	22.0					1																	7721921		2199	4298	6497	SO:0001583	missense	23261	exon8			CCGGCAGCCTGGG	AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.800G>C	chr1.hg19:g.7721921G>C	ENSP00000306522:p.Ser267Thr	118.0	0.0		82.0	61.0	NM_015215	A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	ENST00000303635.7	hg19	CCDS30576.1	.	.	.	.	.	.	.	.	.	.	g	11.48	1.652696	0.29336	.	.	ENSG00000171735	ENST00000303635;ENST00000439411	T;T	0.38401	1.14;1.14	4.77	3.61	0.41365	.	0.173756	0.50627	D	0.000107	T	0.11324	0.0276	N	0.03608	-0.345	0.24235	N	0.99538	B	0.02656	0.0	B	0.01281	0.0	T	0.34700	-0.9818	10	0.07030	T	0.85	-13.1324	3.1519	0.06490	0.2659:0.2813:0.4528:0.0	.	267	Q9Y6Y1	CMTA1_HUMAN	T	267	ENSP00000306522:S267T;ENSP00000402561:S267T	ENSP00000306522:S267T	S	+	2	0	CAMTA1	7644508	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.411000	0.44600	2.382000	0.81193	0.543000	0.68304	AGC	.	.		0.692	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215	
EPHA2	1969	hgsc.bcm.edu	37	1	16461026	16461026	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr1:16461026C>T	ENST00000358432.5	-	8	1773	c.1619G>A	c.(1618-1620)gGc>gAc	p.G540D		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	540					activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	GACAGCCACGCCGCCAATCAC	0.592																																					p.G540D		Atlas-SNP	.											.	EPHA2	102	.	0			c.G1619A						.						66.0	58.0	61.0					1																	16461026		2202	4300	6502	SO:0001583	missense	1969	exon8			GCCACGCCGCCAA	BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3386	protein-coding gene	gene with protein product		176946	"""EphA2"""	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.1619G>A	chr1.hg19:g.16461026C>T	ENSP00000351209:p.Gly540Asp	175.0	0.0		161.0	57.0	NM_004431	B5A968|Q8N3Z2	Missense_Mutation	SNP	ENST00000358432.5	hg19	CCDS169.1	.	.	.	.	.	.	.	.	.	.	C	14.09	2.431187	0.43122	.	.	ENSG00000142627	ENST00000358432	T	0.11930	2.73	5.52	5.52	0.82312	.	0.000000	0.56097	D	0.000035	T	0.20007	0.0481	M	0.67569	2.06	0.80722	D	1	P	0.41748	0.761	B	0.40702	0.338	T	0.00790	-1.1565	10	0.51188	T	0.08	.	15.0049	0.71504	0.0:1.0:0.0:0.0	.	540	P29317	EPHA2_HUMAN	D	540	ENSP00000351209:G540D	ENSP00000351209:G540D	G	-	2	0	EPHA2	16333613	0.704000	0.27836	0.205000	0.23548	0.042000	0.13812	3.187000	0.50950	2.604000	0.88044	0.650000	0.86243	GGC	.	.		0.592	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1	NM_004431	
ARHGEF19	128272	hgsc.bcm.edu	37	1	16533490	16533490	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr1:16533490T>A	ENST00000270747.3	-	6	1226	c.1090A>T	c.(1090-1092)Agc>Tgc	p.S364C	ARHGEF19_ENST00000478117.1_5'UTR	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	364					regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)		GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		AGGACGCCGCTGCCGCGTACG	0.766																																					p.S364C		Atlas-SNP	.											.	ARHGEF19	49	.	0			c.A1090T						.						3.0	3.0	3.0					1																	16533490		1541	2886	4427	SO:0001583	missense	128272	exon6			CGCCGCTGCCGCG	BC012982	CCDS170.1	1p36.13	2011-11-16			ENSG00000142632	ENSG00000142632		"""Rho guanine nucleotide exchange factors"""	26604	protein-coding gene	gene with protein product		612496				12477932	Standard	NM_153213		Approved	FLJ33962, WGEF	uc001ayc.1	Q8IW93	OTTHUMG00000002219	ENST00000270747.3:c.1090A>T	chr1.hg19:g.16533490T>A	ENSP00000270747:p.Ser364Cys	69.0	0.0		50.0	23.0	NM_153213	A6NJ04|Q5TEV2|Q6PJQ4|Q8N244	Missense_Mutation	SNP	ENST00000270747.3	hg19	CCDS170.1	.	.	.	.	.	.	.	.	.	.	T	33	5.196757	0.94960	.	.	ENSG00000142632	ENST00000270747;ENST00000421561;ENST00000375607	T;T	0.33865	1.39;1.39	4.5	4.5	0.54988	Dbl homology (DH) domain (1);	0.190224	0.43110	D	0.000610	T	0.59376	0.2189	M	0.78049	2.395	0.52501	D	0.999956	D	0.89917	1.0	D	0.91635	0.999	T	0.64571	-0.6376	10	0.87932	D	0	.	11.8056	0.52152	0.0:0.0:0.0:1.0	.	364	Q8IW93	ARHGJ_HUMAN	C	364	ENSP00000270747:S364C;ENSP00000396001:S364C	ENSP00000270747:S364C	S	-	1	0	ARHGEF19	16406077	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.301000	0.65727	1.684000	0.51022	0.392000	0.25879	AGC	.	.		0.766	ARHGEF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006289.1	NM_153213	
GPR3	2827	hgsc.bcm.edu	37	1	27720946	27720946	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr1:27720946A>T	ENST00000374024.3	+	2	743	c.644A>T	c.(643-645)cAa>cTa	p.Q215L		NM_005281.3	NP_005272.1	P46089	GPR3_HUMAN	G protein-coupled receptor 3	215					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|regulation of meiosis (GO:0040020)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|lung(3)|ovary(1)|skin(1)	8		Breast(348;1.53e-05)|Ovarian(437;0.0606)|all_lung(284;0.157)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.81e-26)|Colorectal(126;1.24e-08)|KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;4.45e-06)|Lung(427;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|LUSC - Lung squamous cell carcinoma(448;0.008)|READ - Rectum adenocarcinoma(331;0.0419)		CTCTACGCCCAAATCTGCCGC	0.577																																					p.Q215L		Atlas-SNP	.											.	GPR3	23	.	0			c.A644T						.						155.0	136.0	143.0					1																	27720946		2203	4300	6503	SO:0001583	missense	2827	exon2			ACGCCCAAATCTG	BC032702	CCDS303.1	1p36.1-p35	2012-08-21			ENSG00000181773	ENSG00000181773		"""GPCR / Class A : Orphans"""	4484	protein-coding gene	gene with protein product		600241				7851889	Standard	NM_005281		Approved	ACCA	uc001bod.4	P46089	OTTHUMG00000003397	ENST00000374024.3:c.644A>T	chr1.hg19:g.27720946A>T	ENSP00000363136:p.Gln215Leu	34.0	0.0		35.0	10.0	NM_005281	A8K570	Missense_Mutation	SNP	ENST00000374024.3	hg19	CCDS303.1	.	.	.	.	.	.	.	.	.	.	A	15.89	2.967601	0.53507	.	.	ENSG00000181773	ENST00000374024	T	0.32753	1.44	5.64	4.53	0.55603	GPCR, rhodopsin-like superfamily (1);	0.163532	0.40222	N	0.001157	T	0.29190	0.0726	L	0.46819	1.47	0.40591	D	0.981484	P	0.35124	0.485	B	0.37550	0.253	T	0.16217	-1.0410	10	0.59425	D	0.04	.	10.773	0.46334	0.9254:0.0:0.0746:0.0	.	215	P46089	GPR3_HUMAN	L	215	ENSP00000363136:Q215L	ENSP00000363136:Q215L	Q	+	2	0	GPR3	27593533	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.343000	0.59348	2.146000	0.66826	0.379000	0.24179	CAA	.	.		0.577	GPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009522.1	NM_005281	
SZT2	23334	hgsc.bcm.edu	37	1	43903332	43903332	+	Silent	SNP	G	G	A			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr1:43903332G>A	ENST00000562955.1	+	44	6186	c.6186G>A	c.(6184-6186)ctG>ctA	p.L2062L	SZT2_ENST00000372442.1_Silent_p.L1220L	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2119					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CCCTCGCTCTGTCCCGAAGCC	0.577																																					p.L2062L		Atlas-SNP	.											.	SZT2	383	.	0			c.G6186A						.						38.0	37.0	37.0					1																	43903332		2203	4300	6503	SO:0001819	synonymous_variant	23334	exon44			CGCTCTGTCCCGA	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.6186G>A	chr1.hg19:g.43903332G>A		40.0	0.0		39.0	13.0	NM_015284	A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Silent	SNP	ENST00000562955.1	hg19	CCDS30694.2																																																																																			.	.		0.577	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284	
AGBL4	84871	hgsc.bcm.edu	37	1	50163062	50163062	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr1:50163062A>T	ENST00000371839.1	-	3	321	c.205T>A	c.(205-207)Ttc>Atc	p.F69I	AGBL4_ENST00000371836.1_Missense_Mutation_p.F69I|AGBL4_ENST00000497451.1_5'UTR|AGBL4_ENST00000371838.1_Missense_Mutation_p.F69I	NM_032785.3	NP_116174.3	Q5VU57	CBPC6_HUMAN	ATP/GTP binding protein-like 4	69					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytosol (GO:0005829)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15				Colorectal(2;0.00349)|COAD - Colon adenocarcinoma(2;0.0037)		GGCCTAATGAACAGATCATAC	0.423																																					p.F69I		Atlas-SNP	.											.	AGBL4	54	.	0			c.T205A						.						148.0	128.0	134.0					1																	50163062		692	1590	2282	SO:0001583	missense	84871	exon3			TAATGAACAGATC	AK027348	CCDS44137.1	1p33	2014-06-23			ENSG00000186094	ENSG00000186094			25892	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 6"""					21074048	Standard	NM_032785		Approved	FLJ14442, CCP6	uc001cru.2	Q5VU57	OTTHUMG00000007793	ENST00000371839.1:c.205T>A	chr1.hg19:g.50163062A>T	ENSP00000360905:p.Phe69Ile	345.0	0.0		340.0	103.0	NM_032785	B3KT26|B4DG37	Missense_Mutation	SNP	ENST00000371839.1	hg19	CCDS44137.1	.	.	.	.	.	.	.	.	.	.	A	33	5.259026	0.95368	.	.	ENSG00000186094	ENST00000371839;ENST00000411952;ENST00000371838;ENST00000371836	T;T;T	0.29142	1.58;1.58;1.58	5.84	5.84	0.93424	.	0.163209	0.46442	D	0.000300	T	0.46014	0.1371	L	0.38531	1.155	0.80722	D	1	D;D	0.67145	0.996;0.993	D;D	0.77557	0.99;0.917	T	0.26224	-1.0109	9	.	.	.	-12.3973	16.2231	0.82269	1.0:0.0:0.0:0.0	.	69;69	Q5VU57-2;Q5VU57	.;CBPC6_HUMAN	I	69;63;69;69	ENSP00000360905:F69I;ENSP00000360904:F69I;ENSP00000360902:F69I	.	F	-	1	0	AGBL4	49935649	1.000000	0.71417	0.988000	0.46212	0.949000	0.60115	8.619000	0.90938	2.235000	0.73313	0.377000	0.23210	TTC	.	.		0.423	AGBL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021346.4	NM_032785	
TTC22	55001	hgsc.bcm.edu	37	1	55252674	55252674	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr1:55252674C>A	ENST00000371276.4	-	4	917	c.814G>T	c.(814-816)Gac>Tac	p.D272Y	TTC22_ENST00000371274.4_Missense_Mutation_p.D272Y	NM_001114108.1	NP_001107580.1	Q5TAA0	TTC22_HUMAN	tetratricopeptide repeat domain 22	272										kidney(1)|large_intestine(1)|lung(7)|skin(1)	10						TACCCGCAGTCATGGACGCCC	0.647																																					p.D272Y		Atlas-SNP	.											.	TTC22	40	.	0			c.G814T						.						26.0	24.0	25.0					1																	55252674		2201	4299	6500	SO:0001583	missense	55001	exon4			CGCAGTCATGGAC	AK000626	CCDS598.1, CCDS44152.1	1p32.3	2013-01-11			ENSG00000006555	ENSG00000006555		"""Tetratricopeptide (TTC) repeat domain containing"""	26067	protein-coding gene	gene with protein product							Standard	NM_017904		Approved	FLJ20619	uc009vzt.1	Q5TAA0	OTTHUMG00000009916	ENST00000371276.4:c.814G>T	chr1.hg19:g.55252674C>A	ENSP00000360323:p.Asp272Tyr	22.0	0.0		29.0	10.0	NM_001114108	Q9NWT4	Missense_Mutation	SNP	ENST00000371276.4	hg19	CCDS44152.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.054370	0.75960	.	.	ENSG00000006555	ENST00000371276;ENST00000371274;ENST00000448308	T;T	0.52983	0.64;0.73	4.22	4.22	0.49857	Tetratricopeptide-like helical (1);	0.057261	0.64402	D	0.000002	T	0.56396	0.1982	L	0.34521	1.04	0.58432	D	0.999997	D;D	0.76494	0.995;0.999	D;D	0.66351	0.92;0.943	T	0.62034	-0.6939	10	0.87932	D	0	-24.7697	15.547	0.76112	0.0:1.0:0.0:0.0	.	272;272	Q5TAA0;Q5TAA0-2	TTC22_HUMAN;.	Y	272;272;53	ENSP00000360323:D272Y;ENSP00000360321:D272Y	ENSP00000360321:D272Y	D	-	1	0	TTC22	55025262	1.000000	0.71417	0.975000	0.42487	0.764000	0.43329	6.707000	0.74654	2.195000	0.70347	0.655000	0.94253	GAC	.	.		0.647	TTC22-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027438.1	NM_017904	
HFM1	164045	hgsc.bcm.edu	37	1	91843601	91843601	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr1:91843601G>C	ENST00000370425.3	-	11	1474	c.1376C>G	c.(1375-1377)aCa>aGa	p.T459R	HFM1_ENST00000370424.3_Missense_Mutation_p.T138R|HFM1_ENST00000294696.5_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	459	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		ATTTGGAATTGTTGCAGATAC	0.343																																					p.T459R		Atlas-SNP	.											.	HFM1	188	.	0			c.C1376G						.						121.0	109.0	113.0					1																	91843601		1826	4096	5922	SO:0001583	missense	164045	exon11			GGAATTGTTGCAG	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.1376C>G	chr1.hg19:g.91843601G>C	ENSP00000359454:p.Thr459Arg	233.0	0.0		243.0	60.0	NM_001017975	B1B0B6|Q8N9Q0	Missense_Mutation	SNP	ENST00000370425.3	hg19	CCDS30769.2	.	.	.	.	.	.	.	.	.	.	G	22.9	4.346212	0.82022	.	.	ENSG00000162669	ENST00000370425;ENST00000370424;ENST00000370421;ENST00000541820	D;T	0.91686	-2.89;-0.89	5.54	5.54	0.83059	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.47093	U	0.000246	D	0.97860	0.9297	H	0.98238	4.18	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;0.999;1.0	D	0.99129	1.0852	10	0.87932	D	0	.	19.4569	0.94897	0.0:0.0:1.0:0.0	.	138;459;459	A6NGI5;B7ZM16;A2PYH4	.;.;HFM1_HUMAN	R	459;138;143;492	ENSP00000359454:T459R;ENSP00000359453:T138R	ENSP00000359450:T143R	T	-	2	0	HFM1	91616189	1.000000	0.71417	0.998000	0.56505	0.872000	0.50106	9.430000	0.97488	2.588000	0.87417	0.563000	0.77884	ACA	.	.		0.343	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975	
COL11A1	1301	hgsc.bcm.edu	37	1	103444281	103444281	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr1:103444281C>A	ENST00000370096.3	-	35	3049	c.2737G>T	c.(2737-2739)Ggc>Tgc	p.G913C	COL11A1_ENST00000358392.2_Missense_Mutation_p.G925C|COL11A1_ENST00000353414.4_Missense_Mutation_p.G874C|COL11A1_ENST00000512756.1_Missense_Mutation_p.G797C	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	913	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CCTGGAGGGCCAGGAGGGCCA	0.378																																					p.G925C		Atlas-SNP	.											.	COL11A1	972	.	0			c.G2773T						.						98.0	114.0	109.0					1																	103444281		2200	4300	6500	SO:0001583	missense	1301	exon35			GAGGGCCAGGAGG	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.2737G>T	chr1.hg19:g.103444281C>A	ENSP00000359114:p.Gly913Cys	191.0	0.0		194.0	109.0	NM_080629	B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	hg19	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	18.50	3.636626	0.67130	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.99637	-6.29;-6.29;-6.29;-6.29	5.35	5.35	0.76521	.	0.119990	0.56097	D	0.000023	D	0.99837	0.9926	H	0.97564	4.03	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.997;1.0;1.0;1.0;0.999	D	0.96736	0.9543	10	0.87932	D	0	.	19.0619	0.93096	0.0:1.0:0.0:0.0	.	797;874;925;913;133	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	C	913;925;874;133;797	ENSP00000359114:G913C;ENSP00000351163:G925C;ENSP00000302551:G874C;ENSP00000426533:G797C	ENSP00000302551:G874C	G	-	1	0	COL11A1	103216869	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.343000	0.79319	2.506000	0.84524	0.655000	0.94253	GGC	.	.		0.378	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630	
POGZ	23126	hgsc.bcm.edu	37	1	151378800	151378800	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr1:151378800A>G	ENST00000271715.2	-	19	3025	c.2711T>C	c.(2710-2712)tTa>tCa	p.L904S	POGZ_ENST00000368863.2_Missense_Mutation_p.L809S|POGZ_ENST00000409503.1_Missense_Mutation_p.L895S|POGZ_ENST00000361398.3_Missense_Mutation_p.L851S|POGZ_ENST00000491586.1_Missense_Mutation_p.L860S|POGZ_ENST00000540984.1_Missense_Mutation_p.L266S|POGZ_ENST00000531094.1_Missense_Mutation_p.L842S|POGZ_ENST00000392723.1_Missense_Mutation_p.L851S	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	904	Pro-rich.				kinetochore assembly (GO:0051382)|mitotic sister chromatid cohesion (GO:0007064)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TGCTGGGGCTAAGGGAGTTAG	0.592																																					p.L904S		Atlas-SNP	.											.	POGZ	211	.	0			c.T2711C						.						95.0	93.0	94.0					1																	151378800		2203	4300	6503	SO:0001583	missense	23126	exon19			GGGGCTAAGGGAG	AB007930	CCDS997.1, CCDS998.1, CCDS44222.1, CCDS44222.2, CCDS53365.1, CCDS53366.1	1q21.1	2013-07-22			ENSG00000143442	ENSG00000143442			18801	protein-coding gene	gene with protein product	"""zinc finger protein 280E"", ""putative protein product of Nbla00003"""	614787				10976766	Standard	NM_015100		Approved	KIAA0461, ZNF635m, ZNF280E	uc001eyd.2	Q7Z3K3	OTTHUMG00000012499	ENST00000271715.2:c.2711T>C	chr1.hg19:g.151378800A>G	ENSP00000271715:p.Leu904Ser	98.0	0.0		229.0	35.0	NM_015100	B4DTP8|B4DYL9|B7ZBY5|E9PM80|O75049|Q3LIC4|Q5SZS1|Q5SZS2|Q5SZS3|Q5SZS4|Q8TDZ7|Q9Y4X7	Missense_Mutation	SNP	ENST00000271715.2	hg19	CCDS997.1	.	.	.	.	.	.	.	.	.	.	A	2.317	-0.356614	0.05138	.	.	ENSG00000143442	ENST00000392723;ENST00000271715;ENST00000361398;ENST00000368863;ENST00000409503;ENST00000531094;ENST00000540984;ENST00000491586;ENST00000529669	T;T;T;T;T;T;T;T;T	0.28666	5.92;5.95;5.92;5.91;5.93;5.93;1.96;5.42;1.6	5.54	1.78	0.24846	.	1.458230	0.03655	N	0.241564	T	0.03477	0.0100	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B	0.14012	0.002;0.002;0.0;0.009;0.004;0.002	B;B;B;B;B;B	0.16289	0.003;0.003;0.004;0.015;0.015;0.003	T	0.21690	-1.0238	10	0.06494	T	0.89	2.546	3.2365	0.06766	0.6308:0.0:0.1857:0.1835	.	842;895;809;860;851;904	E9PM80;B7ZBY5;Q7Z3K3-5;Q7Z3K3-3;Q7Z3K3-2;Q7Z3K3	.;.;.;.;.;POGZ_HUMAN	S	851;904;851;809;895;842;266;860;304	ENSP00000376484:L851S;ENSP00000271715:L904S;ENSP00000354467:L851S;ENSP00000357856:L809S;ENSP00000386836:L895S;ENSP00000431259:L842S;ENSP00000443547:L266S;ENSP00000418408:L860S;ENSP00000432295:L304S	ENSP00000271715:L904S	L	-	2	0	POGZ	149645424	0.072000	0.21174	0.202000	0.23494	0.009000	0.06853	0.427000	0.21379	0.539000	0.28788	0.533000	0.62120	TTA	.	.		0.592	POGZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034915.2	NM_207171	
LOR	4014	hgsc.bcm.edu	37	1	153234128	153234128	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr1:153234128A>T	ENST00000368742.3	+	2	760	c.703A>T	c.(703-705)Agc>Tgc	p.S235C		NM_000427.2	NP_000418.2	P23490	LORI_HUMAN	loricrin	235					keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein binding, bridging (GO:0030674)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			lung(2)	2	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			cggcggcggcagcggcggaag	0.756																																					p.S235C		Atlas-SNP	.											.	LOR	19	.	0			c.A703T						.						1.0	2.0	2.0					1																	153234128		689	1874	2563	SO:0001583	missense	4014	exon2			GGCGGCAGCGGCG	M61120	CCDS30870.1	1q21	2008-02-05			ENSG00000203782	ENSG00000203782			6663	protein-coding gene	gene with protein product		152445				2007607, 1355480	Standard	NM_000427		Approved		uc001fbm.3	P23490	OTTHUMG00000013938	ENST00000368742.3:c.703A>T	chr1.hg19:g.153234128A>T	ENSP00000357731:p.Ser235Cys	11.0	0.0		19.0	8.0	NM_000427	Q5T869|Q5XKF8	Missense_Mutation	SNP	ENST00000368742.3	hg19	CCDS30870.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	1.728|1.728	-0.494799|-0.494799	0.04322|0.04322	.|.	.|.	ENSG00000203782|ENSG00000203782	ENST00000392652|ENST00000368742	.|T	.|0.37584	.|1.19	3.75|3.75	-7.49|-7.49	0.01355|0.01355	.|.	.|2.145430	.|0.02612	.|N	.|0.102296	T|T	0.09862|0.09862	0.0242|0.0242	L|L	0.39898|0.39898	1.24|1.24	0.09310|0.09310	N|N	1|1	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	T|T	0.28554|0.28554	-1.0040|-1.0040	6|10	0.87932|0.87932	D|D	0|0	1.1511|1.1511	5.1322|5.1322	0.14917|0.14917	0.0923:0.1049:0.1496:0.6532|0.0923:0.1049:0.1496:0.6532	.|.	.|235	.|P23490	.|LORI_HUMAN	L|C	234|235	.|ENSP00000357731:S235C	ENSP00000376422:Q234L|ENSP00000357731:S235C	Q|S	+|+	2|1	0|0	LOR|LOR	151500752|151500752	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	-1.370000|-1.370000	0.02575|0.02575	-1.669000|-1.669000	0.01470|0.01470	-1.782000|-1.782000	0.00648|0.00648	CAG|AGC	.	.		0.756	LOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039107.1	NM_000427	
THBS3	7059	hgsc.bcm.edu	37	1	155176111	155176111	+	Missense_Mutation	SNP	T	T	A	rs143240289		TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr1:155176111T>A	ENST00000368378.3	-	2	186	c.166A>T	c.(166-168)Atc>Ttc	p.I56F	RP11-263K19.4_ENST00000422665.1_RNA|RP11-263K19.4_ENST00000453136.1_RNA|RP11-263K19.4_ENST00000430312.1_RNA|MTX1_ENST00000316721.4_5'Flank|THBS3_ENST00000457183.2_Missense_Mutation_p.I56F|THBS3_ENST00000486260.1_5'UTR|THBS3_ENST00000541990.1_5'UTR|MTX1_ENST00000609421.1_5'Flank|MTX1_ENST00000368376.3_5'Flank	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	56	Laminin G-like.				bone trabecula formation (GO:0060346)|cell-matrix adhesion (GO:0007160)|growth plate cartilage development (GO:0003417)|ossification involved in bone maturation (GO:0043931)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			AAGAGGTAGATGTCCCCAGCA	0.587													T|||	1	0.000199681	0.0	0.0014	5008	,	,		15048	0.0		0.0	False		,,,				2504	0.0				p.I56F		Atlas-SNP	.											.	THBS3	70	.	0			c.A166T						.						123.0	116.0	118.0					1																	155176111		2203	4300	6503	SO:0001583	missense	7059	exon2			GGTAGATGTCCCC	L38969	CCDS1099.1, CCDS58034.1, CCDS72937.1	1q21	2008-02-05			ENSG00000169231	ENSG00000169231			11787	protein-coding gene	gene with protein product		188062				1601886	Standard	NM_007112		Approved		uc001fix.3	P49746	OTTHUMG00000035710	ENST00000368378.3:c.166A>T	chr1.hg19:g.155176111T>A	ENSP00000357362:p.Ile56Phe	97.0	0.0		185.0	53.0	NM_007112	B1AVR8|B4DQ20|Q8WV34	Missense_Mutation	SNP	ENST00000368378.3	hg19	CCDS1099.1	.	.	.	.	.	.	.	.	.	.	T	16.42	3.117594	0.56505	.	.	ENSG00000169231	ENST00000368378;ENST00000457183;ENST00000428962	T;D;T	0.83591	5.0;-1.74;-1.3	5.63	4.34	0.51931	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.129727	0.52532	D	0.000067	T	0.47746	0.1462	N	0.14661	0.345	0.26769	N	0.969837	B;B;B;B;B	0.33512	0.148;0.201;0.276;0.415;0.415	B;B;B;B;B	0.29598	0.018;0.075;0.081;0.104;0.081	T	0.36962	-0.9726	10	0.52906	T	0.07	-12.3276	3.9589	0.09403	0.0:0.1284:0.2105:0.6611	.	56;56;56;56;56	B4DQ20;B4DQH6;Q53FK6;Q2HIZ0;P49746	.;.;.;.;TSP3_HUMAN	F	56	ENSP00000357362:I56F;ENSP00000392207:I56F;ENSP00000404040:I56F	ENSP00000357362:I56F	I	-	1	0	THBS3	153442735	0.929000	0.31497	1.000000	0.80357	0.998000	0.95712	-0.263000	0.08670	2.271000	0.75665	0.459000	0.35465	ATC	.	T|1.000;C|0.000		0.587	THBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086856.1	NM_007112	
PIGM	93183	hgsc.bcm.edu	37	1	160000962	160000962	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr1:160000962T>C	ENST00000368090.2	-	1	821	c.568A>G	c.(568-570)Ata>Gta	p.I190V		NM_145167.2	NP_660150.1	Q9H3S5	PIGM_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class M	190					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	mannosyltransferase activity (GO:0000030)			kidney(1)|large_intestine(4)|lung(9)|ovary(2)|skin(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGGAGGGTTATGGGAAGGATG	0.478																																					p.I190V		Atlas-SNP	.											.	PIGM	27	.	0			c.A568G						.						118.0	117.0	117.0					1																	160000962		2203	4300	6503	SO:0001583	missense	93183	exon1			GGGTTATGGGAAG	AB028127	CCDS1192.1	1q23.2	2013-02-26	2006-06-28		ENSG00000143315	ENSG00000143315		"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"", ""Phosphatidylinositol glycan anchor biosynthesis"""	18858	protein-coding gene	gene with protein product	"""GPI mannosyltransferase 1"", ""DPM:GlcN-(acyl-)PI mannosyltransferase"", ""dol-P-Man dependent GPI mannosyltransferase"""	610273	"""phosphatidylinositol glycan, class M"""			11226175	Standard	NM_145167		Approved	GPI-MT-I	uc001fuv.1	Q9H3S5	OTTHUMG00000024081	ENST00000368090.2:c.568A>G	chr1.hg19:g.160000962T>C	ENSP00000357069:p.Ile190Val	172.0	0.0		341.0	88.0	NM_145167		Missense_Mutation	SNP	ENST00000368090.2	hg19	CCDS1192.1	.	.	.	.	.	.	.	.	.	.	T	17.18	3.324466	0.60634	.	.	ENSG00000143315	ENST00000368090	T	0.42900	0.96	5.16	3.99	0.46301	.	0.000000	0.85682	D	0.000000	T	0.23611	0.0571	M	0.64997	1.995	0.58432	D	0.999993	B	0.26002	0.139	B	0.30316	0.114	T	0.05162	-1.0902	9	.	.	.	-7.7319	10.1089	0.42550	0.0:0.0:0.1688:0.8312	.	190	Q9H3S5	PIGM_HUMAN	V	190	ENSP00000357069:I190V	.	I	-	1	0	PIGM	158267586	1.000000	0.71417	0.976000	0.42696	0.523000	0.34469	2.932000	0.48940	0.937000	0.37394	0.379000	0.24179	ATA	.	.		0.478	PIGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060643.2	NM_145167	
COPA	1314	hgsc.bcm.edu	37	1	160303437	160303437	+	Silent	SNP	A	A	G			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr1:160303437A>G	ENST00000241704.7	-	5	571	c.342T>C	c.(340-342)gaT>gaC	p.D114D	COPA_ENST00000368069.3_Silent_p.D114D	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	114					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGATGGTCTGATCATCGGAGG	0.408																																					p.D114D		Atlas-SNP	.											.	COPA	181	.	0			c.T342C						.						71.0	71.0	71.0					1																	160303437		2203	4300	6503	SO:0001819	synonymous_variant	1314	exon5			GGTCTGATCATCG	U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"""WD repeat domain containing"", ""Endogenous ligands"""	2230	protein-coding gene	gene with protein product	"""proxenin"", ""xenin"""	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.342T>C	chr1.hg19:g.160303437A>G		80.0	0.0		194.0	25.0	NM_001098398	Q5T201|Q8IXZ9	Silent	SNP	ENST00000241704.7	hg19	CCDS1202.1																																																																																			.	.		0.408	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080638.1	NM_004371	
ABL2	27	hgsc.bcm.edu	37	1	179100575	179100575	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr1:179100575C>A	ENST00000502732.1	-	3	465	c.262G>T	c.(262-264)Gca>Tca	p.A88S	ABL2_ENST00000392043.3_Missense_Mutation_p.A67S|ABL2_ENST00000367623.4_Missense_Mutation_p.A67S|ABL2_ENST00000344730.3_Missense_Mutation_p.A73S|ABL2_ENST00000504405.1_Missense_Mutation_p.A52S|ABL2_ENST00000408940.3_Missense_Mutation_p.A52S|ABL2_ENST00000511413.1_Missense_Mutation_p.A88S|ABL2_ENST00000507173.1_Missense_Mutation_p.A67S|ABL2_ENST00000512653.1_Missense_Mutation_p.A73S	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	ABL proto-oncogene 2, non-receptor tyrosine kinase	88	CAP.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|cellular response to retinoic acid (GO:0071300)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phospholipase C activity (GO:0010863)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	TCATTTAGTGCCTGGGGTTCA	0.458			T	ETV6	AML																																p.A88S		Atlas-SNP	.		Dom	yes		1	1q24-q25	27	v-abl Abelson murine leukemia viral oncogene homolog 2		L	ABL2_ENST00000512653,NS,carcinoma,0,3	ABL2	307	.	0			c.G262T						.						97.0	93.0	94.0					1																	179100575		2203	4300	6503	SO:0001583	missense	27	exon3			TTAGTGCCTGGGG	M14904	CCDS30947.1, CCDS41441.1, CCDS44282.1, CCDS44283.1, CCDS41441.2, CCDS53435.1, CCDS53436.1, CCDS53437.1, CCDS53438.1	1q25.2	2014-06-26	2014-06-26		ENSG00000143322	ENSG00000143322		"""SH2 domain containing"""	77	protein-coding gene	gene with protein product	"""Abelson-related gene"""	164690	"""v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene)"", ""v-abl Abelson murine leukemia viral oncogene homolog 2"", ""c-abl oncogene 2, non-receptor tyrosine kinase"""	ABLL		3787260	Standard	NM_001136001		Approved	ARG	uc001gmi.4	P42684	OTTHUMG00000035199	ENST00000502732.1:c.262G>T	chr1.hg19:g.179100575C>A	ENSP00000427562:p.Ala88Ser	97.0	1.0		206.0	126.0	NM_007314	A0M8X0|B7UEF2|B7UEF3|B7UEF4|B7UEF5|Q5T0X6|Q5W0C5|Q6NZY6|Q7Z301	Missense_Mutation	SNP	ENST00000502732.1	hg19	CCDS30947.1	.	.	.	.	.	.	.	.	.	.	C	31	5.059023	0.93846	.	.	ENSG00000143322	ENST00000502732;ENST00000408940;ENST00000344730;ENST00000512653;ENST00000504405;ENST00000367623;ENST00000507173;ENST00000511413;ENST00000392043	T;T;T;T;T;T;T;T;T	0.26373	1.74;1.74;1.74;1.74;1.74;1.74;1.74;1.74;1.74	5.58	5.58	0.84498	.	0.000000	0.49916	D	0.000122	T	0.44117	0.1278	L	0.48642	1.525	0.80722	D	1	D;B;B;B;B;B;B;B;D;B;B	0.71674	0.998;0.216;0.216;0.104;0.104;0.002;0.097;0.129;0.986;0.059;0.34	D;B;B;B;B;B;B;B;P;B;B	0.80764	0.994;0.171;0.171;0.171;0.113;0.015;0.087;0.068;0.689;0.04;0.171	T	0.06588	-1.0818	10	0.18710	T	0.47	.	18.552	0.91068	0.0:1.0:0.0:0.0	.	67;67;88;52;52;67;52;88;73;52;73	P42684-6;P42684-7;P42684-5;P42684-4;P42684-9;P42684-8;P42684-2;P42684;P42684-3;D1MPS6;P42684-10	.;.;.;.;.;.;.;ABL2_HUMAN;.;.;.	S	88;52;73;73;52;67;67;88;67	ENSP00000427562:A88S;ENSP00000386152:A52S;ENSP00000339209:A73S;ENSP00000423578:A73S;ENSP00000426831:A52S;ENSP00000356595:A67S;ENSP00000423413:A67S;ENSP00000424697:A88S;ENSP00000375897:A67S	ENSP00000339209:A73S	A	-	1	0	ABL2	177367198	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.772000	0.68889	2.607000	0.88179	0.591000	0.81541	GCA	.	.		0.458	ABL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085174.3	NM_005158	
SWT1	54823	hgsc.bcm.edu	37	1	185173859	185173859	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr1:185173859A>T	ENST00000367500.4	+	12	1862	c.1697A>T	c.(1696-1698)aAg>aTg	p.K566M	SWT1_ENST00000367501.3_Missense_Mutation_p.K566M	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	566										breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						GAGAGCTATAAGGAGGAATCT	0.303																																					p.K566M		Atlas-SNP	.											.	SWT1	88	.	0			c.A1697T						.						72.0	74.0	74.0					1																	185173859		2203	4298	6501	SO:0001583	missense	54823	exon12			GCTATAAGGAGGA	AF288392	CCDS1367.1	1q25	2013-08-29	2011-01-24	2011-01-24	ENSG00000116668	ENSG00000116668			16785	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 26"""	C1orf26		11318611, 19127978, 23768067	Standard	NM_017673		Approved	FLJ20121, HsSwt1	uc001grg.4	Q5T5J6	OTTHUMG00000035390	ENST00000367500.4:c.1697A>T	chr1.hg19:g.185173859A>T	ENSP00000356470:p.Lys566Met	278.0	0.0		528.0	145.0	NM_017673	Q8NEK9|Q9BZQ7|Q9NXQ0	Missense_Mutation	SNP	ENST00000367500.4	hg19	CCDS1367.1	.	.	.	.	.	.	.	.	.	.	A	14.39	2.520298	0.44866	.	.	ENSG00000116668	ENST00000367501;ENST00000367500	T;T	0.20463	2.07;2.07	5.79	1.96	0.26148	.	0.984678	0.08320	N	0.964015	T	0.20047	0.0482	L	0.36672	1.1	0.09310	N	1	D	0.60575	0.988	P	0.46975	0.533	T	0.16867	-1.0388	10	0.62326	D	0.03	.	5.4036	0.16308	0.573:0.2795:0.1475:0.0	.	566	Q5T5J6	SWT1_HUMAN	M	566	ENSP00000356471:K566M;ENSP00000356470:K566M	ENSP00000356470:K566M	K	+	2	0	SWT1	183440482	0.007000	0.16637	0.000000	0.03702	0.000000	0.00434	1.112000	0.31172	0.431000	0.26258	-0.361000	0.07541	AAG	.	.		0.303	SWT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085790.1	NM_017673	
HMCN1	83872	hgsc.bcm.edu	37	1	186014950	186014950	+	Silent	SNP	G	G	A			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr1:186014950G>A	ENST00000271588.4	+	41	6664	c.6435G>A	c.(6433-6435)ctG>ctA	p.L2145L	HMCN1_ENST00000367492.2_Silent_p.L2145L	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2145	Ig-like C2-type 19.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ACCCCTTGCTGAAGAAACCAG	0.388																																					p.L2145L		Atlas-SNP	.											.	HMCN1	797	.	0			c.G6435A						.						112.0	108.0	109.0					1																	186014950		2203	4300	6503	SO:0001819	synonymous_variant	83872	exon41			CTTGCTGAAGAAA	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.6435G>A	chr1.hg19:g.186014950G>A		101.0	0.0		157.0	20.0	NM_031935	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	hg19	CCDS30956.1																																																																																			.	.		0.388	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	
ADORA1	134	hgsc.bcm.edu	37	1	203134431	203134431	+	Silent	SNP	A	A	T			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr1:203134431A>T	ENST00000367236.4	+	3	1305	c.384A>T	c.(382-384)atA>atT	p.I128I	ADORA1_ENST00000472535.1_3'UTR|ADORA1_ENST00000367235.1_3'UTR|ADORA1_ENST00000337894.4_Silent_p.I128I|ADORA1_ENST00000309502.3_Silent_p.I128I	NM_001048230.1	NP_001041695.1	P30542	AA1R_HUMAN	adenosine A1 receptor	128					activation of MAPKK activity (GO:0000186)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|cognition (GO:0050890)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|inflammatory response (GO:0006954)|lipid catabolic process (GO:0016042)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood pressure (GO:0045776)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, non-REM sleep (GO:0042323)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of heart contraction (GO:0045822)|negative regulation of hormone secretion (GO:0046888)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of mucus secretion (GO:0070256)|negative regulation of neurotrophin production (GO:0032900)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of vasodilation (GO:0045908)|nervous system development (GO:0007399)|phagocytosis (GO:0006909)|positive regulation of blood pressure (GO:0045777)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of nucleoside transport (GO:0032244)|positive regulation of peptide secretion (GO:0002793)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of protein dephosphorylation (GO:0035307)|protein targeting to membrane (GO:0006612)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of glomerular filtration (GO:0003093)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|relaxation of vascular smooth muscle (GO:0060087)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|temperature homeostasis (GO:0001659)	asymmetric synapse (GO:0032279)|axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled adenosine receptor activity (GO:0001609)|phospholipase C activity (GO:0004629)|purine nucleoside binding (GO:0001883)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25					Adenosine(DB00640)|Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Dyphylline(DB00651)|Enprofylline(DB00824)|Gabapentin(DB00996)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Theobromine(DB01412)|Theophylline(DB00277)	CGGTGGCCATAGCCGGCTGCT	0.657																																					p.I128I		Atlas-SNP	.											.	ADORA1	62	.	0			c.A384T						.						49.0	55.0	53.0					1																	203134431		2203	4300	6503	SO:0001819	synonymous_variant	134	exon3			GGCCATAGCCGGC	BC026340	CCDS1434.1	1q32.1	2012-08-08			ENSG00000163485	ENSG00000163485		"""GPCR / Class A : Adenosine receptors"""	262	protein-coding gene	gene with protein product		102775				1662665, 2541503	Standard	NM_001048230		Approved	RDC7	uc001gzf.1	P30542	OTTHUMG00000042125	ENST00000367236.4:c.384A>T	chr1.hg19:g.203134431A>T		58.0	0.0		98.0	44.0	NM_001048230	A6NFY5|A6NGP4|A8K1L3|B3KXQ4|D2CGD0|Q6FHK3|Q8TAM8	Silent	SNP	ENST00000367236.4	hg19	CCDS1434.1																																																																																			.	.		0.657	ADORA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100273.1	NM_000674	
RYR2	6262	hgsc.bcm.edu	37	1	237905615	237905615	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr1:237905615A>T	ENST00000366574.2	+	80	11428	c.11111A>T	c.(11110-11112)gAt>gTt	p.D3704V	RYR2_ENST00000360064.6_Missense_Mutation_p.D3702V|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Missense_Mutation_p.D3688V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3704					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GATGAGGAAGATGACGATGGT	0.318																																					p.D3704V		Atlas-SNP	.											.	RYR2	1273	.	0			c.A11111T						.						201.0	204.0	203.0					1																	237905615		1868	4091	5959	SO:0001583	missense	6262	exon80			AGGAAGATGACGA	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.11111A>T	chr1.hg19:g.237905615A>T	ENSP00000355533:p.Asp3704Val	49.0	0.0		78.0	26.0	NM_001035	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	hg19	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	A	12.88	2.071034	0.36566	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.96913	-4.17;-4.12;-4.16	5.89	4.76	0.60689	.	0.077328	0.49916	D	0.000133	D	0.93871	0.8039	L	0.32530	0.975	0.80722	D	1	D;B	0.53462	0.96;0.346	P;B	0.47744	0.556;0.047	D	0.93001	0.6423	10	0.72032	D	0.01	-14.9408	9.9481	0.41623	0.9235:0.0:0.0765:0.0	.	659;3704	B4DGV4;Q92736	.;RYR2_HUMAN	V	3704;3702;3688;659	ENSP00000355533:D3704V;ENSP00000353174:D3702V;ENSP00000443798:D3688V	ENSP00000353174:D3702V	D	+	2	0	RYR2	235972238	1.000000	0.71417	0.997000	0.53966	0.287000	0.27160	6.112000	0.71547	1.052000	0.40392	0.477000	0.44152	GAT	.	.		0.318	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
SCCPDH	51097	hgsc.bcm.edu	37	1	246923257	246923257	+	Splice_Site	SNP	A	A	T			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr1:246923257A>T	ENST00000366510.3	+	8	1189		c.e8-1			NM_016002.2	NP_057086.2	Q8NBX0	SCPDL_HUMAN	saccharopine dehydrogenase (putative)							lipid particle (GO:0005811)|membrane (GO:0016020)|midbody (GO:0030496)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|ovary(1)	17	all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618)	all_cancers(173;0.0343)	OV - Ovarian serous cystadenocarcinoma(106;0.00323)	GBM - Glioblastoma multiforme(49;0.0896)		TCCATCATCTAGGTTCAGTAT	0.383																																					.		Atlas-SNP	.											.	SCCPDH	37	.	0			c.814-2A>T						.						281.0	252.0	262.0					1																	246923257		2203	4300	6503	SO:0001630	splice_region_variant	51097	exon8			TCATCTAGGTTCA		CCDS31084.1	1q44	2009-11-06			ENSG00000143653	ENSG00000143653			24275	protein-coding gene	gene with protein product						10810093	Standard	NM_016002		Approved	CGI-49, NET11	uc001ibr.3	Q8NBX0	OTTHUMG00000040221	ENST00000366510.3:c.814-1A>T	chr1.hg19:g.246923257A>T		101.0	0.0		92.0	59.0	NM_016002	Q8TAR0|Q9Y363	Splice_Site	SNP	ENST00000366510.3	hg19	CCDS31084.1	.	.	.	.	.	.	.	.	.	.	A	14.80	2.643612	0.47258	.	.	ENSG00000143653	ENST00000366510;ENST00000366509	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8548	0.78968	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SCCPDH	244989880	1.000000	0.71417	0.767000	0.31495	0.273000	0.26683	8.281000	0.89905	2.212000	0.71576	0.533000	0.62120	.	.	.		0.383	SCCPDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096902.2	NM_016002	Intron
KCNK3	3777	hgsc.bcm.edu	37	2	26950553	26950553	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr2:26950553C>A	ENST00000302909.3	+	2	427	c.302C>A	c.(301-303)cCc>cAc	p.P101H		NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	101					brain development (GO:0007420)|cellular response to hypoxia (GO:0071456)|cellular response to zinc ion (GO:0071294)|cochlea development (GO:0090102)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ion channel activity (GO:0005216)|open rectifier potassium channel activity (GO:0005252)|potassium channel activity (GO:0005267)|potassium ion leak channel activity (GO:0022841)|S100 protein binding (GO:0044548)			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Doxapram(DB00561)|Halothane(DB01159)	CACGCGGCACCCAGCACGGAT	0.612																																					p.P101H	GBM(80;1457 1631 27100 45946)	Atlas-SNP	.											.	KCNK3	43	.	0			c.C302A						.						134.0	136.0	136.0					2																	26950553		2203	4300	6503	SO:0001583	missense	3777	exon2			CGGCACCCAGCAC	AF006823	CCDS1727.1	2p23	2012-03-07			ENSG00000171303	ENSG00000171303		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6278	protein-coding gene	gene with protein product		603220				9312005, 9721223, 16382106	Standard	NM_002246		Approved	K2p3.1, TASK, TASK-1	uc002rhn.2	O14649	OTTHUMG00000125530	ENST00000302909.3:c.302C>A	chr2.hg19:g.26950553C>A	ENSP00000306275:p.Pro101His	97.0	0.0		148.0	31.0	NM_002246	Q53SU2	Missense_Mutation	SNP	ENST00000302909.3	hg19	CCDS1727.1	.	.	.	.	.	.	.	.	.	.	C	19.46	3.832039	0.71258	.	.	ENSG00000171303	ENST00000302909	T	0.59638	0.25	5.14	5.14	0.70334	Ion transport 2 (1);	0.000000	0.85682	D	0.000000	D	0.85474	0.5705	H	0.98559	4.265	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91076	0.4896	10	0.87932	D	0	.	16.4547	0.84008	0.0:1.0:0.0:0.0	.	101	O14649	KCNK3_HUMAN	H	101	ENSP00000306275:P101H	ENSP00000306275:P101H	P	+	2	0	KCNK3	26804057	1.000000	0.71417	0.998000	0.56505	0.884000	0.51177	7.757000	0.85209	2.550000	0.86006	0.462000	0.41574	CCC	.	.		0.612	KCNK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246861.2	NM_002246	
CLIP4	79745	hgsc.bcm.edu	37	2	29355071	29355071	+	Silent	SNP	T	T	A			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr2:29355071T>A	ENST00000320081.5	+	4	582	c.327T>A	c.(325-327)acT>acA	p.T109T	CLIP4_ENST00000404424.1_Silent_p.T109T|CLIP4_ENST00000401617.2_Silent_p.T2T|CLIP4_ENST00000401605.1_Silent_p.T109T	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	109										endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					CAGATATGACTCTTTTACATT	0.373																																					p.T109T		Atlas-SNP	.											.	CLIP4	69	.	0			c.T327A						.						257.0	244.0	248.0					2																	29355071		2203	4300	6503	SO:0001819	synonymous_variant	79745	exon4			TATGACTCTTTTA	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.327T>A	chr2.hg19:g.29355071T>A		81.0	0.0		147.0	101.0	NM_024692	A0AV10|B2RMQ3|B7Z7N8|Q7Z4U3|Q96BR7|Q96MA5|Q9H7C0	Silent	SNP	ENST00000320081.5	hg19	CCDS1770.1																																																																																			.	.		0.373	CLIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215123.2	NM_024692	
EML4	27436	hgsc.bcm.edu	37	2	42556058	42556058	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr2:42556058A>T	ENST00000318522.5	+	22	2636	c.2374A>T	c.(2374-2376)Atc>Ttc	p.I792F	EML4_ENST00000401738.3_Missense_Mutation_p.I803F|EML4_ENST00000402711.2_Missense_Mutation_p.I734F|EML4_ENST00000453191.2_Missense_Mutation_p.I56F	NM_019063.3	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	792					microtubule-based process (GO:0007017)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|mitotic spindle (GO:0072686)			EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						TGGGACAGATATCAATGCACT	0.418			T	ALK	NSCLC																																p.I792F		Atlas-SNP	.		Dom	yes		2	2p21	27436	echinoderm microtubule associated protein like 4		E	.	EML4	92	.	0			c.A2374T						.						139.0	128.0	132.0					2																	42556058		2203	4300	6503	SO:0001583	missense	27436	exon22			ACAGATATCAATG	AF177377	CCDS1807.1, CCDS46266.1	2p21	2013-01-10		2002-02-15	ENSG00000143924	ENSG00000143924		"""WD repeat domain containing"""	1316	protein-coding gene	gene with protein product		607442		C2orf2			Standard	NM_019063		Approved	ROPP120, ELP120	uc002rsi.3	Q9HC35	OTTHUMG00000128603	ENST00000318522.5:c.2374A>T	chr2.hg19:g.42556058A>T	ENSP00000320663:p.Ile792Phe	92.0	0.0		81.0	14.0	NM_019063	A6H8Y6|B2RBK3|B2RTW7|B5MCW9|Q3SWW0|Q53R29|Q53TW8|Q6PJ45|Q9NV40	Missense_Mutation	SNP	ENST00000318522.5	hg19	CCDS1807.1	.	.	.	.	.	.	.	.	.	.	A	35	5.415559	0.96092	.	.	ENSG00000143924	ENST00000318522;ENST00000402711;ENST00000401738;ENST00000453191	T;T;T;T	0.74421	1.9;1.21;1.9;-0.84	6.17	6.17	0.99709	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.88317	0.6404	M	0.86953	2.85	0.80722	D	1	D;D;D;D	0.89917	1.0;0.996;0.999;1.0	D;D;D;D	0.83275	0.996;0.957;0.972;0.996	D	0.89999	0.4113	10	0.87932	D	0	-14.0392	16.8222	0.85835	1.0:0.0:0.0:0.0	.	734;734;803;792	A6H8Y6;B5MCW9;B5MBZ0;Q9HC35	.;.;.;EMAL4_HUMAN	F	792;734;803;56	ENSP00000320663:I792F;ENSP00000385059:I734F;ENSP00000384939:I803F;ENSP00000400590:I56F	ENSP00000320663:I792F	I	+	1	0	EML4	42409562	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.220000	0.95180	2.371000	0.80710	0.533000	0.62120	ATC	.	.		0.418	EML4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250463.3	NM_019063	
FSHR	2492	hgsc.bcm.edu	37	2	49190816	49190816	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr2:49190816T>A	ENST00000406846.2	-	10	1263	c.1144A>T	c.(1144-1146)Ata>Tta	p.I382L	FSHR_ENST00000304421.4_Missense_Mutation_p.I356L|FSHR_ENST00000541117.1_Missense_Mutation_p.I118L|FSHR_ENST00000346173.3_Missense_Mutation_p.I320L	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	382					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	ACTAGCACTATGATGTTCCCA	0.458									Gonadal Dysgenesis, 46 XX																												p.I382L		Atlas-SNP	.											.	FSHR	164	.	0			c.A1144T						.						167.0	153.0	158.0					2																	49190816		2203	4300	6503	SO:0001583	missense	2492	exon10	Familial Cancer Database		GCACTATGATGTT		CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"""GPCR / Class A : Gonadotropin and TSH receptors"""	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.1144A>T	chr2.hg19:g.49190816T>A	ENSP00000384708:p.Ile382Leu	109.0	0.0		155.0	11.0	NM_000145	A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Missense_Mutation	SNP	ENST00000406846.2	hg19	CCDS1843.1	.	.	.	.	.	.	.	.	.	.	T	7.897	0.733509	0.15574	.	.	ENSG00000170820	ENST00000406846;ENST00000346173;ENST00000304421;ENST00000541117	D;D;D;D	0.85339	-1.97;-1.97;-1.97;-1.97	5.38	-2.55	0.06288	GPCR, rhodopsin-like superfamily (1);	0.847556	0.11041	N	0.606135	T	0.60327	0.2260	N	0.02368	-0.58	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.003;0.002;0.003	T	0.50668	-0.8801	9	.	.	.	.	8.3611	0.32359	0.0:0.5045:0.1281:0.3674	.	356;320;382	Q05AH0;G5E967;P23945	.;.;FSHR_HUMAN	L	382;320;356;118	ENSP00000384708:I382L;ENSP00000333908:I320L;ENSP00000306780:I356L;ENSP00000444172:I118L	.	I	-	1	0	FSHR	49044320	0.000000	0.05858	0.018000	0.16275	0.969000	0.65631	-0.675000	0.05227	-0.315000	0.08703	0.533000	0.62120	ATA	.	.		0.458	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2		
KIAA1841	84542	hgsc.bcm.edu	37	2	61333732	61333732	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr2:61333732A>T	ENST00000402291.1	+	14	1787	c.1546A>T	c.(1546-1548)Ata>Tta	p.I516L	KIAA1841_ENST00000295031.5_Missense_Mutation_p.I516L|KIAA1841_ENST00000356719.2_Missense_Mutation_p.I516L|KIAA1841_ENST00000453873.1_Missense_Mutation_p.I516L	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	516										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			TGAAAAGGGTATAGAATGTGA	0.353																																					p.I516L		Atlas-SNP	.											.	KIAA1841	95	.	0			c.A1546T						.						132.0	147.0	142.0					2																	61333732		2203	4300	6503	SO:0001583	missense	84542	exon14			AAGGGTATAGAAT	BC070104	CCDS1867.1, CCDS46296.1	2p15	2010-06-22			ENSG00000162929	ENSG00000162929			29387	protein-coding gene	gene with protein product						11347906	Standard	NM_032506		Approved		uc002saw.4	Q6NSI8	OTTHUMG00000129421	ENST00000402291.1:c.1546A>T	chr2.hg19:g.61333732A>T	ENSP00000385579:p.Ile516Leu	134.0	0.0		153.0	40.0	NM_032506	Q49AF0|Q6ZND0|Q96JI6	Missense_Mutation	SNP	ENST00000402291.1	hg19	CCDS46296.1	.	.	.	.	.	.	.	.	.	.	A	3.463	-0.109561	0.06924	.	.	ENSG00000162929	ENST00000402291;ENST00000295031;ENST00000356719;ENST00000453873	.	.	.	5.63	-1.14	0.09741	.	0.504108	0.20822	N	0.085056	T	0.07413	0.0187	N	0.03177	-0.4	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.25398	-1.0133	9	0.02654	T	1	-5.1694	0.5911	0.00728	0.3248:0.2449:0.1083:0.322	.	516;516	Q6NSI8-2;Q6NSI8	.;K1841_HUMAN	L	516	.	ENSP00000295031:I516L	I	+	1	0	KIAA1841	61187236	0.063000	0.20901	0.822000	0.32727	0.953000	0.61014	-0.022000	0.12480	0.074000	0.16767	-0.468000	0.05107	ATA	.	.		0.353	KIAA1841-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325477.1	NM_032506	
NMS	129521	hgsc.bcm.edu	37	2	101096962	101096962	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr2:101096962C>A	ENST00000376865.1	+	7	348	c.341C>A	c.(340-342)tCg>tAg	p.S114*		NM_001011717.1	NP_001011717.1	Q5H8A3	NMS_HUMAN	neuromedin S	114					neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						TTGCAGGGCTCGGGGACTGCT	0.542																																					p.S114X		Atlas-SNP	.											.	NMS	26	.	0			c.C341A						.						119.0	112.0	114.0					2																	101096962		2203	4300	6503	SO:0001587	stop_gained	129521	exon7			AGGGCTCGGGGAC	AB164464	CCDS33259.1	2q11.2	2013-02-26			ENSG00000204640	ENSG00000204640		"""Endogenous ligands"""	32203	protein-coding gene	gene with protein product	"""prepro-NMS"""					15635449	Standard	NM_001011717		Approved		uc002tan.1	Q5H8A3	OTTHUMG00000153142	ENST00000376865.1:c.341C>A	chr2.hg19:g.101096962C>A	ENSP00000366061:p.Ser114*	71.0	0.0		80.0	21.0	NM_001011717		Nonsense_Mutation	SNP	ENST00000376865.1	hg19	CCDS33259.1	.	.	.	.	.	.	.	.	.	.	C	12.22	1.872746	0.33069	.	.	ENSG00000204640	ENST00000376865	.	.	.	3.65	2.77	0.32553	.	0.603497	0.14808	N	0.297227	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.1112	7.2282	0.26028	0.0:0.8796:0.0:0.1204	.	.	.	.	X	114	.	ENSP00000366061:S114X	S	+	2	0	NMS	100463394	0.000000	0.05858	0.001000	0.08648	0.022000	0.10575	-0.617000	0.05584	1.114000	0.41781	0.650000	0.86243	TCG	.	.		0.542	NMS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329737.1	NM_001011717	
SLC9A4	389015	hgsc.bcm.edu	37	2	103142769	103142769	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr2:103142769T>A	ENST00000295269.4	+	11	2459	c.2002T>A	c.(2002-2004)Tct>Act	p.S668T		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	668					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GAATCCTCAGTCTGCAGGAAG	0.507																																					p.S668T		Atlas-SNP	.											.	SLC9A4	115	.	0			c.T2002A						.						123.0	114.0	117.0					2																	103142769		2203	4300	6503	SO:0001583	missense	389015	exon11			CCTCAGTCTGCAG		CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"""Solute carriers"""	11077	protein-coding gene	gene with protein product		600531	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 4"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 4"""			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.2002T>A	chr2.hg19:g.103142769T>A	ENSP00000295269:p.Ser668Thr	64.0	0.0		67.0	37.0	NM_001011552	Q69YK0	Missense_Mutation	SNP	ENST00000295269.4	hg19	CCDS33264.1	.	.	.	.	.	.	.	.	.	.	T	12.78	2.041269	0.35989	.	.	ENSG00000180251	ENST00000295269	T	0.43688	0.94	5.8	-11.3	0.00108	.	3.354190	0.00531	N	0.000206	T	0.21962	0.0529	L	0.33485	1.01	0.09310	N	1	B	0.12630	0.006	B	0.10450	0.005	T	0.10382	-1.0632	10	0.13853	T	0.58	.	3.0559	0.06184	0.0911:0.1684:0.2501:0.4904	.	668	Q6AI14	SL9A4_HUMAN	T	668	ENSP00000295269:S668T	ENSP00000295269:S668T	S	+	1	0	SLC9A4	102509201	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.636000	0.02016	-1.996000	0.00970	-0.250000	0.11733	TCT	.	.		0.507	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1	NM_001011552.3	
TFCP2L1	29842	hgsc.bcm.edu	37	2	122005784	122005784	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr2:122005784C>T	ENST00000263707.5	-	5	557	c.460G>A	c.(460-462)Gag>Aag	p.E154K		NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN	transcription factor CP2-like 1	154					cell morphogenesis (GO:0000902)|cytoplasm organization (GO:0007028)|determination of adult lifespan (GO:0008340)|epithelial cell maturation (GO:0002070)|female pregnancy (GO:0007565)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of growth (GO:0045927)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|salivary gland development (GO:0007431)|steroid biosynthetic process (GO:0006694)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					CACAAAAACTCGACTGCATTC	0.547																																					p.E154K		Atlas-SNP	.											.	TFCP2L1	54	.	0			c.G460A						.						66.0	62.0	63.0					2																	122005784		2203	4300	6503	SO:0001583	missense	29842	exon5			AAAACTCGACTGC	AF198488	CCDS2134.1	2q14	2008-02-05			ENSG00000115112	ENSG00000115112			17925	protein-coding gene	gene with protein product		609785				10644752, 11073954	Standard	NM_014553		Approved	LBP-9, CRTR1	uc002tmx.3	Q9NZI6	OTTHUMG00000131443	ENST00000263707.5:c.460G>A	chr2.hg19:g.122005784C>T	ENSP00000263707:p.Glu154Lys	58.0	0.0		42.0	12.0	NM_014553	Q4ZG43	Missense_Mutation	SNP	ENST00000263707.5	hg19	CCDS2134.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.743314	0.89663	.	.	ENSG00000115112	ENST00000263707	T	0.18502	2.21	4.96	4.96	0.65561	CP2 transcription factor (1);	0.116475	0.56097	N	0.000024	T	0.48132	0.1483	M	0.88377	2.95	0.80722	D	1	B;D	0.60160	0.035;0.987	B;D	0.65874	0.137;0.939	T	0.53542	-0.8424	10	0.39692	T	0.17	.	18.6315	0.91361	0.0:1.0:0.0:0.0	.	154;154	Q5JV87;Q9NZI6	.;TF2L1_HUMAN	K	154	ENSP00000263707:E154K	ENSP00000263707:E154K	E	-	1	0	TFCP2L1	121722254	1.000000	0.71417	0.914000	0.36105	0.473000	0.32948	7.748000	0.85085	2.459000	0.83118	0.650000	0.86243	GAG	.	.		0.547	TFCP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338539.1	NM_014553	
TANC1	85461	hgsc.bcm.edu	37	2	160086859	160086859	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr2:160086859C>T	ENST00000263635.6	+	27	5159	c.4922C>T	c.(4921-4923)gCc>gTc	p.A1641V	TANC1_ENST00000454300.1_Missense_Mutation_p.A1535V	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1641					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						GTGGACGCAGCCCCTCCAAAC	0.587																																					p.A1641V		Atlas-SNP	.											.	TANC1	157	.	0			c.C4922T						.						44.0	47.0	46.0					2																	160086859		2022	4182	6204	SO:0001583	missense	85461	exon27			ACGCAGCCCCTCC	AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29364	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.4922C>T	chr2.hg19:g.160086859C>T	ENSP00000263635:p.Ala1641Val	74.0	0.0		109.0	65.0	NM_033394	C9JD88|Q49AI8	Missense_Mutation	SNP	ENST00000263635.6	hg19	CCDS42766.1	.	.	.	.	.	.	.	.	.	.	C	5.249	0.231423	0.09969	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	T;T	0.69806	-0.43;-0.43	5.19	2.38	0.29361	.	0.764830	0.12837	N	0.435168	T	0.53158	0.1779	L	0.40543	1.245	0.09310	N	0.999998	B	0.02656	0.0	B	0.04013	0.001	T	0.36792	-0.9733	9	.	.	.	.	7.7149	0.28698	0.0:0.7151:0.1349:0.15	.	1641	Q9C0D5	TANC1_HUMAN	V	1535;1641	ENSP00000396339:A1535V;ENSP00000263635:A1641V	.	A	+	2	0	TANC1	159795105	0.651000	0.27340	0.001000	0.08648	0.050000	0.14768	2.807000	0.47955	0.197000	0.20387	0.655000	0.94253	GCC	.	.		0.587	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1		
XIRP2	129446	hgsc.bcm.edu	37	2	168100737	168100737	+	Silent	SNP	G	G	A			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr2:168100737G>A	ENST00000409195.1	+	9	2924	c.2835G>A	c.(2833-2835)gtG>gtA	p.V945V	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Silent_p.V945V|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Silent_p.V723V	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	770					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GAGGAGATGTGAAGAATTACA	0.333																																					p.V945V		Atlas-SNP	.											.	XIRP2	914	.	0			c.G2835A						.						54.0	51.0	52.0					2																	168100737		1843	4088	5931	SO:0001819	synonymous_variant	129446	exon9			AGATGTGAAGAAT	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.2835G>A	chr2.hg19:g.168100737G>A		258.0	0.0		277.0	166.0	NM_152381	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	ENST00000409195.1	hg19	CCDS42769.1																																																																																			.	.		0.333	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381	
ZAK	51776	hgsc.bcm.edu	37	2	173955762	173955762	+	Start_Codon_SNP	SNP	G	G	T			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr2:173955762G>T	ENST00000375213.3	+	2	81	c.3G>T	c.(1-3)atG>atT	p.M1I	MLTK_ENST00000539448.1_Start_Codon_SNP_p.M1I|MLTK_ENST00000409176.2_Start_Codon_SNP_p.M1I|MLTK_ENST00000338983.3_Start_Codon_SNP_p.M1I|MLTK_ENST00000431503.2_Intron	NM_016653.2	NP_057737.2	Q9NYL2	MLTK_HUMAN		1					activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell death (GO:0008219)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|DNA damage checkpoint (GO:0000077)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|response to radiation (GO:0009314)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)										ATTATGAGATGTCGTCTCTCG	0.358																																					p.M1I		Atlas-SNP	.											.	ZAK	62	.	0			c.G3T						.						80.0	81.0	81.0					2																	173955762		2203	4300	6503	SO:0001582	initiator_codon_variant	0	exon2			TGAGATGTCGTCT																												ENST00000375213.3:c.3G>T	chr2.hg19:g.173955762G>T	ENSP00000364361:p.Met1Ile	85.0	0.0		88.0	30.0	NM_133646	B3KPG2|Q53SX1|Q580W8|Q59GY5|Q86YW8|Q9HCC4|Q9HCC5|Q9HDD2|Q9NYE9	Missense_Mutation	SNP	ENST00000375213.3	hg19	CCDS42777.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.825498	0.90955	.	.	ENSG00000091436	ENST00000539448;ENST00000409176;ENST00000338983;ENST00000375213;ENST00000422149	T;T;T;T;T	0.78003	-0.9;-1.03;-0.9;-1.03;-1.14	5.66	5.66	0.87406	.	0.033706	0.85682	D	0.000000	D	0.88477	0.6447	.	.	.	0.80722	D	1	D;D;P;D	0.63880	0.962;0.993;0.936;0.962	D;D;P;D	0.70227	0.946;0.968;0.885;0.946	D	0.87931	0.2710	9	0.49607	T	0.09	.	19.7604	0.96314	0.0:0.0:1.0:0.0	.	1;1;1;1	Q9NYL2-2;Q9NYL2;D4Q8H0;Q9NYL2-3	.;MLTK_HUMAN;.;.	I	1	ENSP00000439414:M1I;ENSP00000387259:M1I;ENSP00000340257:M1I;ENSP00000364361:M1I;ENSP00000411923:M1I	ENSP00000340257:M1I	M	+	3	0	AC013461.1	173664008	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.281000	0.95811	2.675000	0.91044	0.655000	0.94253	ATG	.	.		0.358	MLTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255401.1		Missense_Mutation
TTN	7273	hgsc.bcm.edu	37	2	179560620	179560620	+	Silent	SNP	T	T	A			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr2:179560620T>A	ENST00000591111.1	-	112	30452	c.30228A>T	c.(30226-30228)gtA>gtT	p.V10076V	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Silent_p.V10393V|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Silent_p.V9149V|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	0	Glu-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAACTTGAATTACTTCCCTTT	0.383																																					p.V10393V		Atlas-SNP	.											.	TTN	18412	.	0			c.A31179T						.						139.0	137.0	138.0					2																	179560620		1378	2827	4205	SO:0001819	synonymous_variant	7273	exon114			TTGAATTACTTCC	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.30228A>T	chr2.hg19:g.179560620T>A		106.0	0.0		144.0	52.0	NM_001267550	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	hg19																																																																																				.	.		0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
ZNF804A	91752	hgsc.bcm.edu	37	2	185803176	185803176	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr2:185803176T>A	ENST00000302277.6	+	4	3647	c.3053T>A	c.(3052-3054)gTa>gAa	p.V1018E		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1018							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CATACTTTTGTAACAGCTGAG	0.408																																					p.V1018E		Atlas-SNP	.											.	ZNF804A	322	.	0			c.T3053A						.						94.0	90.0	91.0					2																	185803176		2203	4300	6503	SO:0001583	missense	91752	exon4			CTTTTGTAACAGC	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.3053T>A	chr2.hg19:g.185803176T>A	ENSP00000303252:p.Val1018Glu	116.0	0.0		126.0	28.0	NM_194250	A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	hg19	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	T	14.21	2.468700	0.43839	.	.	ENSG00000170396	ENST00000302277	T	0.07114	3.22	5.29	5.29	0.74685	.	0.341386	0.21113	N	0.079941	T	0.13286	0.0322	L	0.44542	1.39	0.28996	N	0.887765	D	0.55385	0.971	P	0.52159	0.691	T	0.04481	-1.0948	10	0.62326	D	0.03	-2.8241	8.9995	0.36072	0.0:0.0826:0.0:0.9174	.	1018	Q7Z570	Z804A_HUMAN	E	1018	ENSP00000303252:V1018E	ENSP00000303252:V1018E	V	+	2	0	ZNF804A	185511421	0.999000	0.42202	0.942000	0.38095	0.638000	0.38207	3.295000	0.51794	1.992000	0.58205	0.383000	0.25322	GTA	.	.		0.408	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250	
MDH1B	130752	hgsc.bcm.edu	37	2	207620148	207620148	+	Silent	SNP	T	T	A			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr2:207620148T>A	ENST00000374412.3	-	5	770	c.495A>T	c.(493-495)atA>atT	p.I165I	MDH1B_ENST00000454776.2_Silent_p.I165I|MDH1B_ENST00000392214.2_Intron|MDH1B_ENST00000449792.1_Silent_p.I67I	NM_001039845.1|NM_001282940.1	NP_001034934.1|NP_001269869.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	165					carbohydrate metabolic process (GO:0005975)|malate metabolic process (GO:0006108)|tricarboxylic acid cycle (GO:0006099)		malate dehydrogenase activity (GO:0016615)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		CAAATAGAGTTATGCTAATTT	0.488																																					p.I165I	Pancreas(76;29 1355 28675 37177 51207)	Atlas-SNP	.											.	MDH1B	89	.	0			c.A495T						.						93.0	83.0	86.0					2																	207620148		2203	4300	6503	SO:0001819	synonymous_variant	130752	exon5			TAGAGTTATGCTA		CCDS33365.1, CCDS63102.1	2q33.3	2008-05-27			ENSG00000138400	ENSG00000138400			17836	protein-coding gene	gene with protein product							Standard	NM_001039845		Approved	FLJ25341, RP11-95H11	uc002vbs.3	Q5I0G3	OTTHUMG00000132918	ENST00000374412.3:c.495A>T	chr2.hg19:g.207620148T>A		71.0	0.0		69.0	19.0	NM_001039845	A8K8M1|Q53TK9|Q8IV51	Silent	SNP	ENST00000374412.3	hg19	CCDS33365.1																																																																																			.	.		0.488	MDH1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256429.2	NM_001039845	
IQCA1	79781	hgsc.bcm.edu	37	2	237285770	237285770	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr2:237285770T>A	ENST00000409907.3	-	13	1811	c.1537A>T	c.(1537-1539)Aaa>Taa	p.K513*	IQCA1_ENST00000309507.5_Nonsense_Mutation_p.K510*|IQCA1_ENST00000431676.2_Nonsense_Mutation_p.K472*	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	513							ATP binding (GO:0005524)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						AGGTTGACTTTCAGAGCCTGG	0.458																																					p.K521X		Atlas-SNP	.											.	IQCA1	170	.	0			c.A1561T						.						118.0	114.0	115.0					2																	237285770		1889	4125	6014	SO:0001587	stop_gained	79781	exon13			TGACTTTCAGAGC	AK026180	CCDS46549.1, CCDS59441.1, CCDS74677.1	2q37.3	2014-07-18	2008-07-02	2008-07-02	ENSG00000132321	ENSG00000132321		"""ATPases / AAA-type"""	26195	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 11"""		"""IQ motif containing with AAA domain"""	IQCA		23427265	Standard	NM_024726		Approved	FLJ22527, DRC11	uc002vwb.3	Q86XH1	OTTHUMG00000153058	ENST00000409907.3:c.1537A>T	chr2.hg19:g.237285770T>A	ENSP00000387347:p.Lys513*	46.0	0.0		45.0	13.0	NM_001270585	B4DFH9|E7EWQ0|Q4G164|Q53R37|Q53RV3|Q96NS7|Q9H680	Nonsense_Mutation	SNP	ENST00000409907.3	hg19	CCDS46549.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	38|38	6.961480|6.961480	0.97964|0.97964	.|.	.|.	ENSG00000132321|ENSG00000132321	ENST00000418802|ENST00000409907;ENST00000457693;ENST00000309507;ENST00000431676;ENST00000412437	.|.	.|.	.|.	5.63|5.63	4.45|4.45	0.53987|0.53987	.|.	.|0.415223	.|0.23060	.|N	.|0.052393	T|.	0.26521|.	0.0648|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.28427|.	-1.0044|.	3|.	.|0.02654	.|T	.|1	.|.	11.522|11.522	0.50558|0.50558	0.0:0.0:0.2832:0.7168|0.0:0.0:0.2832:0.7168	.|.	.|.	.|.	.|.	V|X	532|513;521;510;472;510	.|.	.|ENSP00000254653:K514X	E|K	-|-	2|1	0|0	IQCA1|IQCA1	236950509|236950509	0.997000|0.997000	0.39634|0.39634	0.899000|0.899000	0.35326|0.35326	0.972000|0.972000	0.66771|0.66771	2.916000|2.916000	0.48813|0.48813	0.931000|0.931000	0.37242|0.37242	0.533000|0.533000	0.62120|0.62120	GAA|AAA	.	.		0.458	IQCA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000329266.1	NM_024726	
IQSEC1	9922	hgsc.bcm.edu	37	3	12957128	12957128	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr3:12957128T>A	ENST00000273221.4	-	7	2384	c.2168A>T	c.(2167-2169)cAg>cTg	p.Q723L		NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	723					actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CTCCACCTTCTGCACCTGGGA	0.597																																					p.Q723L		Atlas-SNP	.											.	IQSEC1	88	.	0			c.A2168T						.						205.0	155.0	172.0					3																	12957128		2203	4300	6503	SO:0001583	missense	9922	exon7			ACCTTCTGCACCT	BC010267	CCDS33703.1, CCDS74902.1	3p25.2	2011-09-23			ENSG00000144711	ENSG00000144711			29112	protein-coding gene	gene with protein product	"""brefeldin A-resistant ARF-GEF2"""	610166				9872452, 8619474	Standard	NM_001134382		Approved	KIAA0763, GEP100, BRAG2, ARF-GEP100	uc011auw.2	Q6DN90	OTTHUMG00000155398	ENST00000273221.4:c.2168A>T	chr3.hg19:g.12957128T>A	ENSP00000273221:p.Gln723Leu	57.0	0.0		64.0	19.0	NM_014869	O94863|Q96D85	Missense_Mutation	SNP	ENST00000273221.4	hg19	CCDS33703.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.127665	0.77549	.	.	ENSG00000144711	ENST00000273221;ENST00000435445;ENST00000429247	T;T	0.13778	2.61;2.56	4.54	4.54	0.55810	.	0.000000	0.85682	D	0.000000	T	0.26882	0.0658	.	.	.	0.80722	D	1	B;D;B	0.62365	0.034;0.991;0.012	B;P;B	0.58130	0.035;0.833;0.024	T	0.01767	-1.1278	9	0.27785	T	0.31	.	14.1699	0.65503	0.0:0.0:0.0:1.0	.	709;709;723	E9PG60;C9JMG9;Q6DN90	.;.;IQEC1_HUMAN	L	723;709;709	ENSP00000273221:Q723L;ENSP00000402299:Q709L	ENSP00000273221:Q723L	Q	-	2	0	IQSEC1	12932128	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.145000	0.71769	1.809000	0.52856	0.533000	0.62120	CAG	.	.		0.597	IQSEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339865.2	NM_014869	
ARPP21	10777	hgsc.bcm.edu	37	3	35771014	35771014	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr3:35771014T>A	ENST00000187397.4	+	15	1901	c.1445T>A	c.(1444-1446)cTt>cAt	p.L482H	ARPP21_ENST00000417925.1_Missense_Mutation_p.L448H|ARPP21_ENST00000458225.1_Missense_Mutation_p.L448H|ARPP21_ENST00000444190.1_Missense_Mutation_p.L428H|ARPP21_ENST00000337271.5_Missense_Mutation_p.L428H	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	482					cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						AGCATCCTTCTTAATCCACAC	0.473																																					p.L482H		Atlas-SNP	.											.	ARPP21	153	.	0			c.T1445A						.						48.0	47.0	47.0					3																	35771014		2203	4300	6503	SO:0001583	missense	10777	exon15			TCCTTCTTAATCC	AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"""R3H domain containing 3"""	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.1445T>A	chr3.hg19:g.35771014T>A	ENSP00000187397:p.Leu482His	84.0	0.0		90.0	52.0	NM_016300	B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Missense_Mutation	SNP	ENST00000187397.4	hg19	CCDS2661.1	.	.	.	.	.	.	.	.	.	.	T	32	5.161632	0.94727	.	.	ENSG00000172995	ENST00000458225;ENST00000337271;ENST00000444190;ENST00000187397;ENST00000417925	T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85	6.06	6.06	0.98353	.	0.142472	0.48767	D	0.000161	T	0.52517	0.1739	L	0.51422	1.61	0.58432	D	0.999993	P;P;P	0.52316	0.816;0.952;0.816	P;P;P	0.51833	0.678;0.681;0.678	T	0.43750	-0.9372	10	0.13470	T	0.59	-14.4824	16.6245	0.84952	0.0:0.0:0.0:1.0	.	448;482;428	Q9UBL0-3;Q9UBL0;Q9UBL0-4	.;ARP21_HUMAN;.	H	448;428;428;482;448	ENSP00000414351:L448H;ENSP00000337792:L428H;ENSP00000405276:L428H;ENSP00000187397:L482H;ENSP00000412326:L448H	ENSP00000187397:L482H	L	+	2	0	ARPP21	35746018	1.000000	0.71417	0.983000	0.44433	0.996000	0.88848	7.946000	0.87746	2.323000	0.78572	0.528000	0.53228	CTT	.	.		0.473	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253334.2	NM_198399	
TGM4	7047	hgsc.bcm.edu	37	3	44935105	44935105	+	Missense_Mutation	SNP	A	A	T	rs74776426	byFrequency	TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr3:44935105A>T	ENST00000296125.4	+	5	535	c.467A>T	c.(466-468)aAa>aTa	p.K156I		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	156					mating plug formation (GO:0042628)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	GACGAGCGCAAAGAGTACATC	0.502																																					p.K156I		Atlas-SNP	.											.	TGM4	82	.	0			c.A467T						.						130.0	116.0	121.0					3																	44935105		2203	4300	6503	SO:0001583	missense	7047	exon5			AGCGCAAAGAGTA	BC007003	CCDS2723.1	3p22-p21.33	2013-05-02	2013-05-02		ENSG00000163810	ENSG00000163810	2.3.2.13	"""Transglutaminases"""	11780	protein-coding gene	gene with protein product		600585	"""transglutaminase 4 (prostate)"""			7665178, 7916568	Standard	NM_003241		Approved	TGP	uc003coc.4	P49221	OTTHUMG00000133096	ENST00000296125.4:c.467A>T	chr3.hg19:g.44935105A>T	ENSP00000296125:p.Lys156Ile	93.0	0.0		115.0	69.0	NM_003241	Q16707|Q96QN4	Missense_Mutation	SNP	ENST00000296125.4	hg19	CCDS2723.1	.	.	.	.	.	.	.	.	.	.	A	10.99	1.508466	0.27036	.	.	ENSG00000163810	ENST00000296125	D	0.88741	-2.42	2.32	-4.63	0.03359	.	1.413030	0.06453	U	0.727998	D	0.88228	0.6380	M	0.72894	2.215	0.09310	N	1	P	0.50943	0.94	P	0.44597	0.454	T	0.82752	-0.0302	10	0.56958	D	0.05	.	12.792	0.57539	0.3306:0.6694:0.0:0.0	.	156	P49221	TGM4_HUMAN	I	156	ENSP00000296125:K156I	ENSP00000296125:K156I	K	+	2	0	TGM4	44910109	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-0.425000	0.07017	-0.931000	0.03746	-0.644000	0.03951	AAA	.	A|0.978;G|0.022		0.502	TGM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256755.2	NM_003241	
CDHR4	389118	hgsc.bcm.edu	37	3	49831234	49831234	+	Splice_Site	SNP	A	A	T			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr3:49831234A>T	ENST00000412678.2	-	11	1492		c.e11+1		CDHR4_ENST00000462108.1_5'Flank	NM_001007540.2	NP_001007541.2	A6H8M9	CDHR4_HUMAN	cadherin-related family member 4						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(3)	11						GGGTGGATGTACCGCTGAGAC	0.592																																					.		Atlas-SNP	.											.	CDHR4	37	.	0			c.1483+2T>A						.						93.0	85.0	87.0					3																	49831234		692	1591	2283	SO:0001630	splice_region_variant	389118	exon12			GGATGTACCGCTG		CCDS46829.1	3p21.31	2011-07-01	2010-01-25	2010-01-25	ENSG00000187492	ENSG00000187492		"""Cadherins / Cadherin-related"""	34527	protein-coding gene	gene with protein product			"""cadherin-like 29"""	CDH29			Standard	NM_001007540		Approved	VLLR9392	uc010hkz.3	A6H8M9	OTTHUMG00000158198	ENST00000412678.2:c.1483+1T>A	chr3.hg19:g.49831234A>T		158.0	0.0		164.0	99.0	NM_001007540	Q6UXT0	Splice_Site	SNP	ENST00000412678.2	hg19	CCDS46829.1	.	.	.	.	.	.	.	.	.	.	A	14.89	2.668966	0.47677	.	.	ENSG00000187492	ENST00000412678	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3513	0.60603	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CDHR4	49806238	1.000000	0.71417	0.999000	0.59377	0.574000	0.36063	4.942000	0.63547	1.986000	0.57962	0.529000	0.55759	.	.	.		0.592	CDHR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350387.1	NM_001007540	Intron
CDHR4	389118	hgsc.bcm.edu	37	3	49836807	49836807	+	Missense_Mutation	SNP	T	T	G			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr3:49836807T>G	ENST00000412678.2	-	2	121	c.113A>C	c.(112-114)cAg>cCg	p.Q38P	CDHR4_ENST00000343366.4_Missense_Mutation_p.Q38P|CDHR4_ENST00000487256.1_Missense_Mutation_p.Q38P	NM_001007540.2	NP_001007541.2	A6H8M9	CDHR4_HUMAN	cadherin-related family member 4	38					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(3)	11						GGATAAAAACTGAAGGACTGT	0.572																																					p.Q38P		Atlas-SNP	.											.	CDHR4	37	.	0			c.A113C						.						82.0	88.0	86.0					3																	49836807		1932	4131	6063	SO:0001583	missense	389118	exon2			AAAAACTGAAGGA		CCDS46829.1	3p21.31	2011-07-01	2010-01-25	2010-01-25	ENSG00000187492	ENSG00000187492		"""Cadherins / Cadherin-related"""	34527	protein-coding gene	gene with protein product			"""cadherin-like 29"""	CDH29			Standard	NM_001007540		Approved	VLLR9392	uc010hkz.3	A6H8M9	OTTHUMG00000158198	ENST00000412678.2:c.113A>C	chr3.hg19:g.49836807T>G	ENSP00000391409:p.Gln38Pro	94.0	0.0		95.0	42.0	NM_001007540	Q6UXT0	Missense_Mutation	SNP	ENST00000412678.2	hg19	CCDS46829.1	.	.	.	.	.	.	.	.	.	.	T	15.54	2.863211	0.51482	.	.	ENSG00000187492	ENST00000412678;ENST00000343366;ENST00000487256	T;T;T	0.56444	0.46;0.88;0.88	4.66	1.92	0.25849	.	1.152800	0.06475	N	0.731813	T	0.49729	0.1574	L	0.50333	1.59	0.09310	N	1	P;B;P	0.47302	0.893;0.396;0.893	P;B;P	0.45310	0.476;0.188;0.476	T	0.41034	-0.9531	10	0.56958	D	0.05	-0.4162	4.7659	0.13132	0.1649:0.0947:0.0:0.7404	.	38;38;38	E9PFE8;A6H8M9;A6H8M9-2	.;CDHR4_HUMAN;.	P	38	ENSP00000391409:Q38P;ENSP00000341302:Q38P;ENSP00000420677:Q38P	ENSP00000341302:Q38P	Q	-	2	0	CDHR4	49811811	0.000000	0.05858	0.001000	0.08648	0.573000	0.36030	0.104000	0.15313	0.688000	0.31529	0.533000	0.62120	CAG	.	.		0.572	CDHR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350387.1	NM_001007540	
BAP1	8314	hgsc.bcm.edu	37	3	52439294	52439294	+	Silent	SNP	C	C	T			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr3:52439294C>T	ENST00000460680.1	-	11	1419	c.948G>A	c.(946-948)gcG>gcA	p.A316A	BAP1_ENST00000296288.5_Silent_p.A298A	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		ATGAACCAGCCGCCTCCTCTG	0.597			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""																															p.A316A	GBM(101;493 1458 7992 21037 25532)	Atlas-SNP	.		Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	.	BAP1	371	.	0			c.G948A						.						97.0	100.0	99.0					3																	52439294		2203	4300	6503	SO:0001819	synonymous_variant	8314	exon11			ACCAGCCGCCTCC	AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930			950	protein-coding gene	gene with protein product		603089				9528852	Standard	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.948G>A	chr3.hg19:g.52439294C>T		44.0	0.0		46.0	19.0	NM_004656	B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Silent	SNP	ENST00000460680.1	hg19	CCDS2853.1																																																																																			.	.		0.597	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1		
FLNB	2317	hgsc.bcm.edu	37	3	58095360	58095360	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr3:58095360G>C	ENST00000295956.4	+	15	2422	c.2257G>C	c.(2257-2259)Gag>Cag	p.E753Q	FLNB_ENST00000348383.5_Missense_Mutation_p.E753Q|FLNB_ENST00000358537.3_Missense_Mutation_p.E753Q|FLNB_ENST00000357272.4_Missense_Mutation_p.E753Q|FLNB_ENST00000493452.1_Missense_Mutation_p.E584Q|FLNB_ENST00000490882.1_Missense_Mutation_p.E753Q|FLNB_ENST00000429972.2_Missense_Mutation_p.E753Q|FLNB_ENST00000419752.2_Missense_Mutation_p.E584Q	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	753					actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GCCAGGTGTGGAGAGAAGTGG	0.502																																					p.E753Q		Atlas-SNP	.											.	FLNB	430	.	0			c.G2257C						.						143.0	142.0	143.0					3																	58095360		2203	4300	6503	SO:0001583	missense	2317	exon15			GGTGTGGAGAGAA	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.2257G>C	chr3.hg19:g.58095360G>C	ENSP00000295956:p.Glu753Gln	115.0	0.0		124.0	29.0	NM_001457	B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Missense_Mutation	SNP	ENST00000295956.4	hg19	CCDS2885.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.831298	0.91036	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000357272;ENST00000493452;ENST00000419752	D;D;D;D;D;D;D;D	0.86297	-2.1;-2.1;-2.1;-2.1;-2.1;-2.1;-2.1;-2.1	5.54	5.54	0.83059	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.93112	0.7807	M	0.72118	2.19	0.80722	D	1	D;D;D;P;D;D	0.76494	0.999;0.994;0.999;0.659;0.999;0.999	D;D;D;P;D;D	0.91635	0.998;0.962;0.999;0.607;0.999;0.999	D	0.92002	0.5611	10	0.40728	T	0.16	.	19.4738	0.94976	0.0:0.0:1.0:0.0	.	753;753;584;584;753;753	O75369-2;B2ZZ83;E7EN95;O75369-7;Q60FE7;O75369	.;.;.;.;.;FLNB_HUMAN	Q	753;753;753;753;753;753;584;584	ENSP00000295956:E753Q;ENSP00000420213:E753Q;ENSP00000351339:E753Q;ENSP00000415599:E753Q;ENSP00000232447:E753Q;ENSP00000349819:E753Q;ENSP00000418510:E584Q;ENSP00000414532:E584Q	ENSP00000295956:E753Q	E	+	1	0	FLNB	58070400	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	9.869000	0.99810	2.622000	0.88805	0.655000	0.94253	GAG	.	.		0.502	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457	
TMF1	7110	hgsc.bcm.edu	37	3	69084229	69084229	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr3:69084229T>A	ENST00000398559.2	-	9	2405	c.2189A>T	c.(2188-2190)cAa>cTa	p.Q730L	CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000596274.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|TMF1_ENST00000543976.1_Missense_Mutation_p.Q733L|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000601511.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000599467.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA			P82094	TMF1_HUMAN	TATA element modulatory factor 1	730					acrosome assembly (GO:0001675)|cellular response to organic cyclic compound (GO:0071407)|defense response to bacterium (GO:0042742)|Leydig cell differentiation (GO:0033327)|luteinizing hormone secretion (GO:0032275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|positive regulation of cytokine production (GO:0001819)|positive regulation of testosterone secretion (GO:2000845)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of transcription, DNA-templated (GO:0006355)|sperm motility (GO:0030317)|spermatid nucleus differentiation (GO:0007289)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription cofactor activity (GO:0003712)			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		GGCAGCCGCTTGTTCTGTACG	0.438																																					p.Q730L		Atlas-SNP	.											.	TMF1	77	.	0			c.A2189T						.						206.0	207.0	207.0					3																	69084229		1953	4143	6096	SO:0001583	missense	7110	exon9			GCCGCTTGTTCTG		CCDS43105.1	3p21-p12	2009-02-11			ENSG00000144747	ENSG00000144747			11870	protein-coding gene	gene with protein product		601126				1409643	Standard	NM_007114		Approved	ARA160, TMF	uc003dnn.3	P82094	OTTHUMG00000158771	ENST00000398559.2:c.2189A>T	chr3.hg19:g.69084229T>A	ENSP00000381567:p.Gln730Leu	78.0	0.0		90.0	54.0	NM_007114	B7ZLJ2|Q17R87|Q59GK0	Missense_Mutation	SNP	ENST00000398559.2	hg19	CCDS43105.1	.	.	.	.	.	.	.	.	.	.	T	16.72	3.200606	0.58126	.	.	ENSG00000144747	ENST00000398559;ENST00000543976;ENST00000356248	T;T	0.21191	2.02;2.02	5.03	5.03	0.67393	.	0.115517	0.64402	D	0.000009	T	0.43433	0.1247	M	0.63428	1.95	0.58432	D	0.999997	D;D	0.76494	0.999;0.999	D;D	0.75484	0.986;0.976	T	0.28776	-1.0033	10	0.46703	T	0.11	-17.6263	15.0578	0.71927	0.0:0.0:0.0:1.0	.	733;730	P82094-2;P82094	.;TMF1_HUMAN	L	730;733;646	ENSP00000381567:Q730L;ENSP00000438706:Q733L	ENSP00000348582:Q646L	Q	-	2	0	TMF1	69166919	1.000000	0.71417	0.993000	0.49108	0.614000	0.37383	6.176000	0.71955	2.012000	0.59069	0.533000	0.62120	CAA	.	.		0.438	TMF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352106.1	NM_007114	
CRYBG3	131544	hgsc.bcm.edu	37	3	97605567	97605567	+	Silent	SNP	A	A	G			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr3:97605567A>G	ENST00000182096.4	+	5	1465	c.1401A>G	c.(1399-1401)gaA>gaG	p.E467E		NM_153605.3	NP_705833.3	Q68DQ2	CRBG3_HUMAN	beta-gamma crystallin domain containing 3	2415							carbohydrate binding (GO:0030246)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						ATTTGGAAGAACTGAATATCT	0.413																																					p.E2415E		Atlas-SNP	.											.	CRYBG3	86	.	0			c.A7245G						.						151.0	143.0	145.0					3																	97605567		1866	4099	5965	SO:0001819	synonymous_variant	131544	exon8			GGAAGAACTGAAT			3q11.2	2008-09-30			ENSG00000080200	ENSG00000080200			34427	protein-coding gene	gene with protein product							Standard	NM_153605		Approved	DKFZp667G2110	uc021xbn.2	Q68DQ2	OTTHUMG00000159187	ENST00000182096.4:c.1401A>G	chr3.hg19:g.97605567A>G		297.0	0.0		298.0	159.0	NM_153605	B4DLE8|F6VHI2|Q4G0V8|Q7Z4R9|Q86VD0|Q8N262|Q8N7F1|Q8NDQ8	Silent	SNP	ENST00000182096.4	hg19																																																																																				.	.		0.413	CRYBG3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353751.1	NM_153605	
LINC01205	401082	hgsc.bcm.edu	37	3	109136694	109136694	+	lincRNA	SNP	C	C	A			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr3:109136694C>A	ENST00000497996.1	+	0	333																											gcacccCACCCATTCAAGTCC	0.478																																					p.P52P		Atlas-SNP	.											.	.	.	.	0			c.C156A						.						112.0	102.0	105.0					3																	109136694		692	1591	2283			0	exon2			CCCACCCATTCAA																													chr3.hg19:g.109136694C>A		62.0	0.0		77.0	13.0	NM_001145553		Silent	SNP	ENST00000497996.1	hg19																																																																																				.	.		0.478	RP11-702L6.4-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000353892.1		
CD86	942	hgsc.bcm.edu	37	3	121810486	121810486	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr3:121810486T>A	ENST00000330540.2	+	2	169	c.53T>A	c.(52-54)tTc>tAc	p.F18Y	CD86_ENST00000483949.1_3'UTR|CD86_ENST00000493101.1_Missense_Mutation_p.F18Y|CD86_ENST00000393627.2_Missense_Mutation_p.F12Y|CD86_ENST00000469710.1_Intron|CD86_ENST00000264468.5_Missense_Mutation_p.F18Y	NM_175862.4	NP_787058	P42081	CD86_HUMAN	CD86 molecule	18					aging (GO:0007568)|B cell activation (GO:0042113)|cell-cell signaling (GO:0007267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to metal ion (GO:0071248)|defense response to virus (GO:0051607)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|immune response (GO:0006955)|innate immune response (GO:0045087)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of T cell anergy (GO:0002668)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of lymphotoxin A biosynthetic process (GO:0043017)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|response to interferon-gamma (GO:0034341)|response to yeast (GO:0001878)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell proliferation involved in immune response (GO:0002309)|toll-like receptor signaling pathway (GO:0002224)|viral process (GO:0016032)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)|receptor activity (GO:0004872)			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)|Antithymocyte globulin(DB00098)|Belatacept(DB06681)	GTGATGGCCTTCCTGCTCTCT	0.443																																					p.F18Y	GBM(67;1379 1389 36064 39806)	Atlas-SNP	.											.	CD86	43	.	0			c.T53A						.						318.0	301.0	307.0					3																	121810486		2203	4300	6503	SO:0001583	missense	942	exon2			TGGCCTTCCTGCT		CCDS3009.1, CCDS43138.1, CCDS56272.1, CCDS56273.1, CCDS74991.1	3q21	2013-01-29	2006-03-28		ENSG00000114013	ENSG00000114013		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1705	protein-coding gene	gene with protein product	"""B-lymphocyte antigen B7-2"""	601020	"""CD86 antigen (CD28 antigen ligand 2, B7-2 antigen)"""	CD28LG2		7513726	Standard	NM_006889		Approved	B7.2, B7-2	uc003eet.3	P42081	OTTHUMG00000159482	ENST00000330540.2:c.53T>A	chr3.hg19:g.121810486T>A	ENSP00000332049:p.Phe18Tyr	39.0	0.0		48.0	34.0	NM_001206924	A0N0P0|B7Z2F3|B7Z702|E7ETN5|E9PC27|Q13655|Q6FHB1|Q6GTS4|Q7M4L5	Missense_Mutation	SNP	ENST00000330540.2	hg19	CCDS3009.1	.	.	.	.	.	.	.	.	.	.	T	3.809	-0.040144	0.07497	.	.	ENSG00000114013	ENST00000493101;ENST00000330540;ENST00000264468;ENST00000482356;ENST00000393627	T;T;T;T;T	0.38240	2.37;4.29;1.15;3.48;4.27	4.42	1.9	0.25705	.	1.104600	0.06973	N	0.818459	T	0.25382	0.0617	L	0.44542	1.39	0.09310	N	1	B;B	0.21606	0.058;0.036	B;B	0.22152	0.038;0.026	T	0.31420	-0.9944	10	0.05436	T	0.98	1.1314	5.1143	0.14825	0.1815:0.0:0.1893:0.6293	.	18;18	E9PC27;P42081	.;CD86_HUMAN	Y	18;18;18;12;12	ENSP00000420230:F18Y;ENSP00000332049:F18Y;ENSP00000264468:F18Y;ENSP00000419116:F12Y;ENSP00000377248:F12Y	ENSP00000264468:F18Y	F	+	2	0	CD86	123293176	0.627000	0.27129	0.227000	0.23927	0.007000	0.05969	1.019000	0.30014	0.409000	0.25649	0.533000	0.62120	TTC	.	.		0.443	CD86-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000355671.1	NM_006889	
CHST13	166012	hgsc.bcm.edu	37	3	126260677	126260677	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr3:126260677G>C	ENST00000319340.2	+	3	332	c.282G>C	c.(280-282)gaG>gaC	p.E94D		NM_152889.2	NP_690849.1	Q8NET6	CHSTD_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 13	94					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin 4-sulfotransferase activity (GO:0047756)|N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)			central_nervous_system(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(114;0.151)		TACAGCCGGAGGACCTGCGGC	0.701																																					p.E94D		Atlas-SNP	.											.	CHST13	21	.	0			c.G282C						.						19.0	13.0	15.0					3																	126260677		2179	4263	6442	SO:0001583	missense	166012	exon3			GCCGGAGGACCTG	AY120869	CCDS3039.1	3q21.3	2008-02-05			ENSG00000180767	ENSG00000180767	2.8.2.5	"""Sulfotransferases, membrane-bound"""	21755	protein-coding gene	gene with protein product		610124				12080076	Standard	NM_152889		Approved	C4ST3	uc003eja.3	Q8NET6	OTTHUMG00000162721	ENST00000319340.2:c.282G>C	chr3.hg19:g.126260677G>C	ENSP00000317404:p.Glu94Asp	58.0	0.0		76.0	24.0	NM_152889	Q3SYA3|Q3SYA5	Missense_Mutation	SNP	ENST00000319340.2	hg19	CCDS3039.1	.	.	.	.	.	.	.	.	.	.	G	10.42	1.346376	0.24426	.	.	ENSG00000180767	ENST00000319340;ENST00000383575	T	0.68479	-0.33	4.84	3.05	0.35203	.	0.115936	0.56097	D	0.000027	T	0.58764	0.2145	M	0.66939	2.045	0.80722	D	1	B	0.18461	0.028	B	0.19148	0.024	T	0.49184	-0.8966	10	0.23302	T	0.38	-20.1085	7.1048	0.25358	0.2842:0.0:0.7158:0.0	.	94	Q8NET6	CHSTD_HUMAN	D	94	ENSP00000317404:E94D	ENSP00000317404:E94D	E	+	3	2	CHST13	127743367	0.997000	0.39634	0.936000	0.37596	0.774000	0.43823	0.243000	0.18106	0.459000	0.27016	-0.424000	0.05967	GAG	.	.		0.701	CHST13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370201.2	NM_152889	
C3orf58	205428	hgsc.bcm.edu	37	3	143708415	143708416	+	Missense_Mutation	DNP	GC	GC	TG			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr3:143708415_143708416GC>TG	ENST00000315691.3	+	3	1560_1561	c.1025_1026GC>TG	c.(1024-1026)tGC>tTG	p.C342L	C3orf58_ENST00000441925.2_Missense_Mutation_p.C104L|C3orf58_ENST00000493396.1_Intron|C3orf58_ENST00000495414.1_Missense_Mutation_p.C133L	NM_173552.3	NP_775823.1	Q8NDZ4	DIA1_HUMAN	chromosome 3 open reading frame 58	342					cardiac muscle cell proliferation (GO:0060038)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)	COPI vesicle coat (GO:0030126)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AAGGAGGCTTGCTTATCATTTT	0.396																																					p.C342F|p.C342W		Atlas-SNP	.											.	C3orf58	36	.	0			c.G1025T|c.C1026G						.																																			SO:0001583	missense	205428	exon3			AGGCTTGCTTATC|GGCTTGCTTATCA	AK095161	CCDS3130.1, CCDS46929.1	3q24	2013-12-06			ENSG00000181744	ENSG00000181744			28490	protein-coding gene	gene with protein product	"""deleted in autism 1"", ""hypoxia and Akt induced stem cell factor"""	612200				21283809, 23784961, 24269490	Standard	NM_173552		Approved	MGC33365, DIA1, HASF	uc003evo.3	Q8NDZ4	OTTHUMG00000159380	Exception_encountered	chr3.hg19:g.143708415_143708416delinsTG	ENSP00000320081:p.Cys342Leu	77.0	0.0		95.0|97.0	28.0|29.0	NM_173552	B2RCF2|B7Z1W3	Missense_Mutation	SNP	ENST00000315691.3	hg19	CCDS3130.1																																																																																			.	.		0.396	C3orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355038.1	NM_173552	
KCNMB2	10242	hgsc.bcm.edu	37	3	178543411	178543411	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr3:178543411T>A	ENST00000432997.1	+	3	444	c.92T>A	c.(91-93)cTg>cAg	p.L31Q	RP11-385J1.2_ENST00000451742.1_RNA|RP11-385J1.2_ENST00000425330.1_RNA|KCNMB2_ENST00000420517.2_Missense_Mutation_p.L31Q|RP11-385J1.2_ENST00000432385.1_RNA|RP11-385J1.2_ENST00000437488.1_RNA|KCNMB2_ENST00000358316.3_Missense_Mutation_p.L31Q|KCNMB2_ENST00000452583.1_Missense_Mutation_p.L31Q	NM_001278911.1	NP_001265840.1	Q9NPA1	KCMB3_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 2	43					action potential (GO:0001508)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|neuronal action potential (GO:0019228)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|potassium channel regulator activity (GO:0015459)			NS(2)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12	all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125)		OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841)		Miconazole(DB01110)|Procaine(DB00721)	CATGACCTCCTGGACAAAAGG	0.438																																					p.L31Q		Atlas-SNP	.											.	KCNMB2	35	.	0			c.T92A						.						143.0	135.0	138.0					3																	178543411		2203	4300	6503	SO:0001583	missense	10242	exon4			ACCTCCTGGACAA	AF099137	CCDS3223.1	3q26.32	2005-10-13			ENSG00000197584	ENSG00000197584		"""Potassium channels"""	6286	protein-coding gene	gene with protein product		605214				10097176	Standard	NM_181361		Approved		uc003fjd.3	Q9Y691	OTTHUMG00000157264	ENST00000432997.1:c.92T>A	chr3.hg19:g.178543411T>A	ENSP00000407592:p.Leu31Gln	78.0	0.0		77.0	41.0	NM_005832	B7Z9C9|D3DNR2|E9PER5|Q9NPG7|Q9NRM9|Q9UHN3	Missense_Mutation	SNP	ENST00000432997.1	hg19	CCDS3223.1	.	.	.	.	.	.	.	.	.	.	T	18.08	3.542965	0.65198	.	.	ENSG00000197584	ENST00000437510;ENST00000420517;ENST00000452583;ENST00000432997;ENST00000455865;ENST00000358316;ENST00000457763	T;T;T;T;T;T	0.26660	2.03;2.89;2.89;2.89;1.72;2.89	5.38	5.38	0.77491	KCNMB2, ball/chain domain (2);	0.000000	0.85682	D	0.000000	T	0.37293	0.0998	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.972	T	0.16958	-1.0385	10	0.42905	T	0.14	-12.043	15.3897	0.74731	0.0:0.0:0.0:1.0	.	31;31	B5BNW9;Q9Y691	.;KCMB2_HUMAN	Q	31	ENSP00000395807:L31Q;ENSP00000408252:L31Q;ENSP00000397483:L31Q;ENSP00000407592:L31Q;ENSP00000399100:L31Q;ENSP00000351068:L31Q	ENSP00000351068:L31Q	L	+	2	0	KCNMB2	180026105	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.698000	0.84413	2.049000	0.60858	0.528000	0.53228	CTG	.	.		0.438	KCNMB2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348251.1	NM_181361	
EVC2	132884	hgsc.bcm.edu	37	4	5564738	5564738	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr4:5564738A>T	ENST00000344408.5	-	22	3817	c.3764T>A	c.(3763-3765)gTa>gAa	p.V1255E	EVC2_ENST00000310917.2_Missense_Mutation_p.V1175E|EVC2_ENST00000344938.1_Intron	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	1255					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						TACAATGGGTACAGGGGCCAG	0.468																																					p.V1255E		Atlas-SNP	.											.	EVC2	202	.	0			c.T3764A						.						128.0	135.0	132.0					4																	5564738		2203	4300	6503	SO:0001583	missense	132884	exon22			ATGGGTACAGGGG	AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.3764T>A	chr4.hg19:g.5564738A>T	ENSP00000342144:p.Val1255Glu	64.0	0.0		101.0	38.0	NM_147127	Q86YT3|Q86YT4|Q8NG49	Missense_Mutation	SNP	ENST00000344408.5	hg19	CCDS3382.2	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506804	0.44558	.	.	ENSG00000173040	ENST00000310917;ENST00000344408	T;T	0.78481	-1.18;-1.18	5.15	5.15	0.70609	.	1.086050	0.06967	N	0.817483	T	0.77212	0.4097	L	0.27053	0.805	0.45554	D	0.998502	D	0.62365	0.991	P	0.52109	0.69	T	0.69101	-0.5234	10	0.72032	D	0.01	-21.6719	11.3634	0.49657	1.0:0.0:0.0:0.0	.	1255	Q86UK5	LBN_HUMAN	E	1175;1255	ENSP00000311683:V1175E;ENSP00000342144:V1255E	ENSP00000311683:V1175E	V	-	2	0	EVC2	5615639	0.008000	0.16893	0.016000	0.15963	0.232000	0.25224	2.476000	0.45171	1.960000	0.56953	0.533000	0.62120	GTA	.	.		0.468	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	NM_147127	
TBC1D1	23216	hgsc.bcm.edu	37	4	37962314	37962314	+	Intron	SNP	A	A	T			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr4:37962314A>T	ENST00000261439.4	+	3	772				TBC1D1_ENST00000508802.1_Intron|PTTG2_ENST00000504686.1_Missense_Mutation_p.S87C	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1						membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						AAAACAGCCAAGCTTTTCTGC	0.413																																					p.S87C		Atlas-SNP	.											.	PTTG2	15	.	0			c.A259T						.						79.0	88.0	85.0					4																	37962314		2198	4300	6498	SO:0001627	intron_variant	10744	exon1			CAGCCAAGCTTTT	AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.418-53816A>T	chr4.hg19:g.37962314A>T		120.0	0.0		140.0	86.0	NM_006607	B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Missense_Mutation	SNP	ENST00000261439.4	hg19	CCDS33972.1	.	.	.	.	.	.	.	.	.	.	A	10.49	1.364297	0.24684	.	.	ENSG00000250254	ENST00000504686	T	0.48522	0.81	1.42	-0.0777	0.13717	.	.	.	.	.	T	0.46249	0.1383	L	0.44542	1.39	0.09310	N	1	D	0.53885	0.963	P	0.55999	0.789	T	0.30563	-0.9974	9	0.34782	T	0.22	.	3.7523	0.08572	0.7474:0.0:0.2526:0.0	.	87	Q9NZH5-2	.	C	87	ENSP00000424261:S87C	ENSP00000424261:S87C	S	+	1	0	PTTG2	37638709	0.000000	0.05858	0.005000	0.12908	0.015000	0.08874	0.190000	0.17057	-0.210000	0.10140	-0.385000	0.06624	AGC	.	.		0.413	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317443.2	NM_015173	
TMPRSS11BNL	401136	hgsc.bcm.edu	37	4	69078179	69078179	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr4:69078179A>T	ENST00000432593.3	-	2	191	c.25T>A	c.(25-27)Tgt>Agt	p.C9S	RP11-646E20.6_ENST00000510782.1_RNA|FTLP10_ENST00000503647.1_RNA					TMPRSS11B N-terminal like, pseudogene											autonomic_ganglia(1)	1						ACAGATGTACAGGAAGCCATG	0.408																																					p.C9S		Atlas-SNP	.											.	TMPRSS11BNL	4	.	0			c.T25A						.						102.0	79.0	86.0					4																	69078179		692	1591	2283	SO:0001583	missense	401136	exon2			ATGTACAGGAAGC			4q13.2	2014-05-09	2014-05-08		ENSG00000226894	ENSG00000250026			37262	pseudogene	pseudogene			"""TMPRSS11B N terminal-like"", ""TMPRSS11B N-terminal like"""				Standard	NR_104048		Approved	FLJ41562	uc003hdv.1		OTTHUMG00000160802	ENST00000432593.3:c.25T>A	chr4.hg19:g.69078179A>T	ENSP00000391149:p.Cys9Ser	254.0	0.0		286.0	89.0	NM_001129907		Missense_Mutation	SNP	ENST00000432593.3	hg19	CCDS47066.1	.	.	.	.	.	.	.	.	.	.	G	4.545	0.101256	0.08731	.	.	ENSG00000226894	ENST00000432593	.	.	.	4.94	4.94	0.65067	.	.	.	.	.	T	0.12902	0.0313	N	0.01352	-0.895	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.24012	-1.0172	8	0.12430	T	0.62	.	9.3631	0.38208	0.0969:0.0:0.9031:0.0	.	9	B3KVV0	TM11L_HUMAN	S	9	.	ENSP00000391149:C9S	C	-	1	0	TMPRSS11BNL	68760774	0.045000	0.20229	0.465000	0.27155	0.002000	0.02628	1.867000	0.39499	1.333000	0.45449	-0.128000	0.14901	TGT	.	.		0.408	TMPRSS11BNL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001129907	
FRAS1	80144	hgsc.bcm.edu	37	4	79461941	79461941	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr4:79461941A>T	ENST00000264895.6	+	74	12142	c.11702A>T	c.(11701-11703)cAg>cTg	p.Q3901L		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	3897					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TCCCTGTCACAGACTGGGGCG	0.493																																					p.Q3901L		Atlas-SNP	.											.	FRAS1	779	.	0			c.A11702T						.						51.0	57.0	55.0					4																	79461941		2003	4180	6183	SO:0001583	missense	80144	exon74			TGTCACAGACTGG	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.11702A>T	chr4.hg19:g.79461941A>T	ENSP00000264895:p.Gln3901Leu	145.0	0.0		141.0	82.0	NM_025074	A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000264895.6	hg19	CCDS54771.1	.	.	.	.	.	.	.	.	.	.	A	14.31	2.497196	0.44352	.	.	ENSG00000138759	ENST00000264895	T	0.52295	0.67	6.17	5.01	0.66863	.	0.184361	0.48286	D	0.000194	T	0.50343	0.1610	L	0.51422	1.61	0.80722	D	1	D	0.54207	0.965	P	0.50049	0.629	T	0.52563	-0.8559	10	0.56958	D	0.05	.	11.8368	0.52330	0.9327:0.0:0.0673:0.0	.	3901	E9PHH6	.	L	3901	ENSP00000264895:Q3901L	ENSP00000264895:Q3901L	Q	+	2	0	FRAS1	79680965	1.000000	0.71417	0.956000	0.39512	0.012000	0.07955	4.869000	0.63028	2.371000	0.80710	0.533000	0.62120	CAG	.	.		0.493	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
BMPR1B	658	hgsc.bcm.edu	37	4	96052479	96052479	+	Missense_Mutation	SNP	G	G	A	rs373000965		TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr4:96052479G>A	ENST00000515059.1	+	10	1175	c.892G>A	c.(892-894)Gct>Act	p.A298T	BMPR1B_ENST00000264568.4_Missense_Mutation_p.A298T|BMPR1B_ENST00000394931.1_Missense_Mutation_p.A298T|BMPR1B_ENST00000440890.2_Missense_Mutation_p.A328T	NM_001203.2	NP_001194.1	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	298	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				BMP signaling pathway (GO:0030509)|cartilage condensation (GO:0001502)|chondrocyte differentiation (GO:0002062)|dorsal/ventral pattern formation (GO:0009953)|eye development (GO:0001654)|inflammatory response (GO:0006954)|limb morphogenesis (GO:0035108)|ovarian cumulus expansion (GO:0001550)|ovulation cycle (GO:0042698)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell differentiation (GO:0045597)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of osteoblast differentiation (GO:0045669)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|skeletal system development (GO:0001501)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta receptor activity, type I (GO:0005025)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		CACCCTAGACGCTAAATCAAT	0.428																																					p.A328T		Atlas-SNP	.											.	BMPR1B	121	.	0			c.G982A						.	A	THR/ALA	0,4406		0,0,2203	125.0	106.0	113.0		892	3.7	0.0	4		113	1,8599	819.2+/-406.8	0,1,4299	no	missense	BMPR1B	NM_001203.2	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	298/503	96052479	1,13005	2203	4300	6503	SO:0001583	missense	658	exon8			CTAGACGCTAAAT	D89675	CCDS3642.1, CCDS58919.1	4q23-q24	2008-02-05			ENSG00000138696	ENSG00000138696		"""CD molecules"""	1077	protein-coding gene	gene with protein product		603248				8140412, 9730621	Standard	NM_001203		Approved	ALK6, CDw293	uc031sgn.1	O00238	OTTHUMG00000130991	ENST00000515059.1:c.892G>A	chr4.hg19:g.96052479G>A	ENSP00000426617:p.Ala298Thr	164.0	0.0		144.0	44.0	NM_001256793	B2R953|B4DSV1|P78366	Missense_Mutation	SNP	ENST00000515059.1	hg19	CCDS3642.1	.	.	.	.	.	.	.	.	.	.	A	1.486	-0.555873	0.03967	0.0	1.16E-4	ENSG00000138696	ENST00000515059;ENST00000512312;ENST00000509540;ENST00000440890;ENST00000264568;ENST00000394931	D;D;D;D;D;D	0.93247	-3.19;-3.19;-3.19;-3.19;-3.19;-3.19	6.06	3.67	0.42095	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.639008	0.17282	N	0.179951	T	0.80752	0.4683	N	0.04245	-0.25	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.63395	-0.6647	10	0.02654	T	1	.	9.4564	0.38758	0.7982:0.0:0.2018:0.0	.	298	O00238	BMR1B_HUMAN	T	298;298;298;328;298;298	ENSP00000426617:A298T;ENSP00000425444:A298T;ENSP00000421671:A298T;ENSP00000401907:A328T;ENSP00000264568:A298T;ENSP00000378389:A298T	ENSP00000264568:A298T	A	+	1	0	BMPR1B	96271502	0.005000	0.15991	0.003000	0.11579	0.961000	0.63080	1.465000	0.35299	0.193000	0.20303	-0.254000	0.11334	GCT	.	.		0.428	BMPR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253609.3	NM_001203	
DDIT4L	115265	hgsc.bcm.edu	37	4	101109256	101109256	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr4:101109256A>T	ENST00000273990.2	-	3	374	c.160T>A	c.(160-162)Tgc>Agc	p.C54S	RP11-588P8.1_ENST00000515782.1_RNA|RP11-15B17.1_ENST00000515026.1_RNA	NM_145244.3	NP_660287.1	Q96D03	DDT4L_HUMAN	DNA-damage-inducible transcript 4-like	54					negative regulation of signal transduction (GO:0009968)	cytoplasm (GO:0005737)				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(2)	12				OV - Ovarian serous cystadenocarcinoma(123;5.75e-09)		AAATTCTGGCAAGTTGATTCC	0.393																																					p.C54S		Atlas-SNP	.											.	DDIT4L	33	.	0			c.T160A						.						89.0	93.0	91.0					4																	101109256		2203	4300	6503	SO:0001583	missense	115265	exon3			TCTGGCAAGTTGA	BC013592	CCDS34036.1	4q23	2008-02-05				ENSG00000145358			30555	protein-coding gene	gene with protein product	"""regulated in development and DNA damage response 2"", "" similar to Smhs1 protein"""	607730				12477932	Standard	NM_145244		Approved	REDD2, Rtp801L	uc003hvq.3	Q96D03		ENST00000273990.2:c.160T>A	chr4.hg19:g.101109256A>T	ENSP00000354830:p.Cys54Ser	36.0	0.0		61.0	16.0	NM_145244	B2R7C3	Missense_Mutation	SNP	ENST00000273990.2	hg19	CCDS34036.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.164571	0.78339	.	.	ENSG00000145358	ENST00000273990;ENST00000502763;ENST00000513992	T;T	0.50277	0.76;0.75	5.63	4.47	0.54385	.	0.120522	0.56097	D	0.000027	T	0.39963	0.1098	L	0.27053	0.805	0.41958	D	0.990692	P	0.47409	0.895	P	0.47044	0.535	T	0.33854	-0.9852	10	0.54805	T	0.06	-18.7937	10.1541	0.42812	0.9213:0.0:0.0787:0.0	.	54	Q96D03	DDT4L_HUMAN	S	54	ENSP00000354830:C54S;ENSP00000427301:C54S	ENSP00000354830:C54S	C	-	1	0	DDIT4L	101328279	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.614000	0.67695	2.145000	0.66743	0.533000	0.62120	TGC	.	.		0.393	DDIT4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363423.1	NM_145244	
NEUROG2	63973	hgsc.bcm.edu	37	4	113436007	113436007	+	Missense_Mutation	SNP	A	A	C			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr4:113436007A>C	ENST00000313341.3	-	2	951	c.625T>G	c.(625-627)Tcg>Gcg	p.S209A	RP11-402J6.1_ENST00000504009.1_RNA|RP11-402J6.1_ENST00000506057.1_RNA	NM_024019.3	NP_076924.1	Q9H2A3	NGN2_HUMAN	neurogenin 2	209	Ser-rich.				axon guidance (GO:0007411)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|central nervous system neuron development (GO:0021954)|forebrain development (GO:0030900)|neuron migration (GO:0001764)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	E-box binding (GO:0070888)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|large_intestine(3)|lung(6)|skin(2)	12		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.00168)		GAGGCGGGCGAGGGGCTGTCT	0.721																																					p.S209A		Atlas-SNP	.											.	NEUROG2	25	.	0			c.T625G						.						22.0	26.0	24.0					4																	113436007		2197	4292	6489	SO:0001583	missense	63973	exon2			CGGGCGAGGGGCT	AF303002	CCDS3698.1	4q25	2013-05-21			ENSG00000178403	ENSG00000178403		"""Basic helix-loop-helix proteins"""	13805	protein-coding gene	gene with protein product		606624					Standard	NM_024019		Approved	Atoh4, Math4A, ngn-2, bHLHa8, NGN2	uc003ias.3	Q9H2A3	OTTHUMG00000132907	ENST00000313341.3:c.625T>G	chr4.hg19:g.113436007A>C	ENSP00000317333:p.Ser209Ala	24.0	0.0		48.0	20.0	NM_024019	Q8N416	Missense_Mutation	SNP	ENST00000313341.3	hg19	CCDS3698.1	.	.	.	.	.	.	.	.	.	.	A	14.22	2.470834	0.43942	.	.	ENSG00000178403	ENST00000313341	D	0.91521	-2.86	4.07	4.07	0.47477	.	0.000000	0.41605	D	0.000841	D	0.86209	0.5878	L	0.34521	1.04	0.37427	D	0.913875	D	0.56035	0.974	P	0.52267	0.694	T	0.83275	-0.0041	10	0.09590	T	0.72	-10.3413	7.5672	0.27885	0.782:0.218:0.0:0.0	.	209	Q9H2A3	NGN2_HUMAN	A	209	ENSP00000317333:S209A	ENSP00000317333:S209A	S	-	1	0	NEUROG2	113655456	0.967000	0.33354	0.989000	0.46669	0.868000	0.49771	0.922000	0.28734	1.706000	0.51276	0.533000	0.62120	TCG	.	.		0.721	NEUROG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256414.1	NM_024019	
NAA15	80155	hgsc.bcm.edu	37	4	140264113	140264113	+	Splice_Site	SNP	A	A	T			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr4:140264113A>T	ENST00000296543.5	+	5	859	c.536A>T	c.(535-537)cAg>cTg	p.Q179L	NAA15_ENST00000398947.1_Splice_Site_p.Q179L|NAA15_ENST00000480277.2_3'UTR	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	179					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						AAAACACAACAGGTAATAACT	0.308																																					p.Q179L		Atlas-SNP	.											.	NAA15	88	.	0			c.A536T						.						72.0	67.0	69.0					4																	140264113		1811	4077	5888	SO:0001630	splice_region_variant	80155	exon5			CACAACAGGTAAT	AY039242	CCDS43270.1	4q31.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000164134	ENSG00000164134		"""N(alpha)-acetyltransferase subunits"""	30782	protein-coding gene	gene with protein product		608000	"""NMDA receptor regulated 1"""	NARG1		12140756, 11478804, 19660095	Standard	XM_005263236		Approved	TBDN100, NATH, FLJ13340	uc003ihu.1	Q9BXJ9	OTTHUMG00000137363	ENST00000296543.5:c.537+1A>T	chr4.hg19:g.140264113A>T		291.0	0.0		225.0	99.0	NM_057175	D3DNY6|Q52LG9|Q8IWH4|Q8NEV2|Q9H8P6	Missense_Mutation	SNP	ENST00000296543.5	hg19	CCDS43270.1	.	.	.	.	.	.	.	.	.	.	A	17.31	3.357409	0.61293	.	.	ENSG00000164134	ENST00000296543;ENST00000544077;ENST00000398947	T;T	0.51574	0.7;0.7	4.69	4.69	0.59074	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.151493	0.47093	D	0.000249	T	0.44180	0.1281	L	0.46157	1.445	0.80722	D	1	B	0.26845	0.161	B	0.29598	0.104	T	0.45011	-0.9290	10	0.54805	T	0.06	-9.2365	14.6005	0.68438	1.0:0.0:0.0:0.0	.	179	Q9BXJ9	NAA15_HUMAN	L	179;53;179	ENSP00000296543:Q179L;ENSP00000381920:Q179L	ENSP00000296543:Q179L	Q	+	2	0	NAA15	140483563	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.585000	0.90802	2.094000	0.63399	0.383000	0.25322	CAG	.	.		0.308	NAA15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000267839.2	NM_057175	Missense_Mutation
TMEM144	55314	hgsc.bcm.edu	37	4	159161486	159161486	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr4:159161486T>A	ENST00000296529.6	+	10	1238	c.718T>A	c.(718-720)Ttt>Att	p.F240I	TMEM144_ENST00000503404.1_3'UTR	NM_018342.4	NP_060812.2	Q7Z5S9	TM144_HUMAN	transmembrane protein 144	240						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1)	19	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0539)		CAGTGGCATCTTTCTTACAAG	0.348																																					p.F240I		Atlas-SNP	.											.	TMEM144	34	.	0			c.T718A						.						129.0	115.0	120.0					4																	159161486		2203	4300	6503	SO:0001583	missense	55314	exon10			GGCATCTTTCTTA	AK002017	CCDS3799.1	4q32.1	2008-02-05			ENSG00000164124	ENSG00000164124			25633	protein-coding gene	gene with protein product						12477932	Standard	NM_018342		Approved	FLJ11155	uc003ipx.3	Q7Z5S9	OTTHUMG00000162013	ENST00000296529.6:c.718T>A	chr4.hg19:g.159161486T>A	ENSP00000296529:p.Phe240Ile	110.0	0.0		113.0	32.0	NM_018342	D3DP24|Q49A05|Q9NUT3	Missense_Mutation	SNP	ENST00000296529.6	hg19	CCDS3799.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.505152	0.85282	.	.	ENSG00000164124	ENST00000296529	T	0.53206	0.63	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.69708	0.3141	M	0.88906	2.99	0.80722	D	1	D	0.58620	0.983	P	0.59487	0.858	T	0.75769	-0.3201	10	0.54805	T	0.06	-45.8651	14.3292	0.66541	0.0:0.0:0.0:1.0	.	240	Q7Z5S9	TM144_HUMAN	I	240	ENSP00000296529:F240I	ENSP00000296529:F240I	F	+	1	0	TMEM144	159380936	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	6.281000	0.72632	2.027000	0.59764	0.383000	0.25322	TTT	.	.		0.348	TMEM144-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365597.1	NM_018342	
PALLD	23022	hgsc.bcm.edu	37	4	169432856	169432856	+	Silent	SNP	T	T	A			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr4:169432856T>A	ENST00000505667.1	+	2	374	c.201T>A	c.(199-201)atT>atA	p.I67I	PALLD_ENST00000335742.7_5'UTR|PALLD_ENST00000261509.6_Silent_p.I67I|PALLD_ENST00000333488.4_5'UTR			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	67					cytoskeleton organization (GO:0007010)	actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	muscle alpha-actinin binding (GO:0051371)			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		TCTCGCAGATTTTCAGTACTT	0.498									Pancreatic Cancer, Familial Clustering of																												p.I67I	Esophageal Squamous(109;1482 1532 18347 40239 51172)	Atlas-SNP	.											.	PALLD	179	.	0			c.T201A						.						39.0	41.0	40.0					4																	169432856		2203	4300	6503	SO:0001819	synonymous_variant	23022	exon2	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	GCAGATTTTCAGT	AB023209	CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1	4q32.3	2013-01-11			ENSG00000129116	ENSG00000129116		"""Immunoglobulin superfamily / I-set domain containing"""	17068	protein-coding gene	gene with protein product		608092				10231032, 10931874	Standard	NM_001166108		Approved	KIAA0992, SIH002, CGI-151	uc011cjx.2	Q8WX93	OTTHUMG00000161097	ENST00000505667.1:c.201T>A	chr4.hg19:g.169432856T>A		223.0	0.0		234.0	63.0	NM_001166108	B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	Silent	SNP	ENST00000505667.1	hg19	CCDS54818.1																																																																																			.	.		0.498	PALLD-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363762.1	NM_016081	
LRRC14B	389257	hgsc.bcm.edu	37	5	192291	192291	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr5:192291T>A	ENST00000328278.3	+	1	666	c.638T>A	c.(637-639)cTg>cAg	p.L213Q		NM_001080478.1	NP_001073947.1	A6NHZ5	LR14B_HUMAN	leucine rich repeat containing 14B	213										endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	10						CCGGGTGCCCTGCGCAAGCTG	0.736																																					p.L213Q		Atlas-SNP	.											.	LRRC14B	30	.	0			c.T638A						.						8.0	10.0	10.0					5																	192291		2044	4161	6205	SO:0001583	missense	389257	exon1			GTGCCCTGCGCAA		CCDS47184.1	5p15.33	2010-02-17			ENSG00000185028	ENSG00000185028			37268	protein-coding gene	gene with protein product							Standard	NM_001080478		Approved		uc003jal.1	A6NHZ5	OTTHUMG00000161578	ENST00000328278.3:c.638T>A	chr5.hg19:g.192291T>A	ENSP00000327675:p.Leu213Gln	80.0	0.0		158.0	80.0	NM_001080478		Missense_Mutation	SNP	ENST00000328278.3	hg19	CCDS47184.1	.	.	.	.	.	.	.	.	.	.	T	13.33	2.205881	0.39003	.	.	ENSG00000185028	ENST00000328278	T	0.62364	0.03	5.23	5.23	0.72850	.	0.214867	0.41938	D	0.000788	T	0.77253	0.4103	M	0.82323	2.585	0.20196	N	0.99993	D	0.76494	0.999	D	0.73380	0.98	T	0.71027	-0.4711	10	0.87932	D	0	.	7.7805	0.29062	0.0:0.0937:0.0:0.9063	.	213	A6NHZ5	LR14B_HUMAN	Q	213	ENSP00000327675:L213Q	ENSP00000327675:L213Q	L	+	2	0	LRRC14B	245291	0.983000	0.35010	0.415000	0.26534	0.587000	0.36485	4.745000	0.62125	1.983000	0.57843	0.379000	0.24179	CTG	.	.		0.736	LRRC14B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000365393.2	NM_001080478	
SLC12A7	10723	hgsc.bcm.edu	37	5	1094313	1094313	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr5:1094313C>T	ENST00000264930.5	-	2	218	c.175G>A	c.(175-177)Gaa>Aaa	p.E59K		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	59					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	CTCTCTTGTTCCACCTCGACA	0.423																																					p.E59K		Atlas-SNP	.											.	SLC12A7	97	.	0			c.G175A						.						134.0	124.0	128.0					5																	1094313		2203	4300	6503	SO:0001583	missense	10723	exon2			CTTGTTCCACCTC	AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"""Solute carriers"""	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.175G>A	chr5.hg19:g.1094313C>T	ENSP00000264930:p.Glu59Lys	75.0	0.0		145.0	48.0	NM_006598	A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Missense_Mutation	SNP	ENST00000264930.5	hg19	CCDS34129.1	.	.	.	.	.	.	.	.	.	.	C	16.57	3.161301	0.57368	.	.	ENSG00000113504	ENST00000264930;ENST00000343658	D	0.84442	-1.85	3.59	3.59	0.41128	.	0.481200	0.20635	N	0.088502	T	0.80706	0.4674	L	0.59436	1.845	0.41340	D	0.987298	B	0.15141	0.012	B	0.14578	0.011	T	0.74873	-0.3516	10	0.11485	T	0.65	.	14.1132	0.65137	0.0:1.0:0.0:0.0	.	59	Q9Y666	S12A7_HUMAN	K	59	ENSP00000264930:E59K	ENSP00000264930:E59K	E	-	1	0	SLC12A7	1147313	0.984000	0.35163	0.022000	0.16811	0.002000	0.02628	4.982000	0.63825	1.713000	0.51359	0.491000	0.48974	GAA	.	.		0.423	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	NM_006598	
MAST4	375449	hgsc.bcm.edu	37	5	66462123	66462123	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr5:66462123G>T	ENST00000403625.2	+	29	7411	c.7116G>T	c.(7114-7116)aaG>aaT	p.K2372N	MAST4_ENST00000403666.1_Missense_Mutation_p.K2183N|MAST4_ENST00000404260.3_Missense_Mutation_p.K2375N|MAST4_ENST00000261569.7_Missense_Mutation_p.K2178N|MAST4_ENST00000405643.1_Missense_Mutation_p.K2193N	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	2375						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CGGAAGGGAAGAAATGCACTG	0.577											OREG0016638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.K2372N		Atlas-SNP	.											.	MAST4	218	.	0			c.G7116T						.						21.0	31.0	28.0					5																	66462123		2090	4219	6309	SO:0001583	missense	375449	exon29			AGGGAAGAAATGC	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.7116G>T	chr5.hg19:g.66462123G>T	ENSP00000385727:p.Lys2372Asn	81.0	0.0	1092	133.0	19.0	NM_001164664	A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	ENST00000403625.2	hg19	CCDS54861.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.23|12.23	1.875359|1.875359	0.33162|0.33162	.|.	.|.	ENSG00000069020|ENSG00000069020	ENST00000443808|ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569	.|T;T;T;T;T	.|0.73575	.|-0.74;-0.74;-0.76;-0.76;-0.73	4.69|4.69	1.53|1.53	0.23141|0.23141	.|.	.|0.118515	.|0.37577	.|N	.|0.002034	.|T	.|0.55257	.|0.1909	L|L	0.32530|0.32530	0.975|0.975	0.22989|0.22989	N|N	0.998461|0.998461	.|B;B	.|0.10296	.|0.003;0.002	.|B;B	.|0.10450	.|0.002;0.005	.|T	.|0.43523	.|-0.9386	.|10	.|0.45353	.|T	.|0.12	-9.2249|-9.2249	0.9102|0.9102	0.01293|0.01293	0.2202:0.2016:0.3763:0.2019|0.2202:0.2016:0.3763:0.2019	.|.	.|2375;2183	.|O15021;O15021-3	.|MAST4_HUMAN;.	X|N	1429|2375;2372;2183;2193;2193;2178	.|ENSP00000385048:K2375N;ENSP00000385727:K2372N;ENSP00000384313:K2183N;ENSP00000384099:K2193N;ENSP00000261569:K2178N	.|ENSP00000261569:K2178N	E|K	+|+	1|3	0|2	MAST4|MAST4	66497879|66497879	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.044000|0.044000	0.14063|0.14063	1.785000|1.785000	0.38684|0.38684	0.127000|0.127000	0.18452|0.18452	-0.218000|-0.218000	0.12543|0.12543	GAA|AAG	.	.		0.577	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2		
MCTP1	79772	hgsc.bcm.edu	37	5	94275891	94275891	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr5:94275891T>A	ENST00000515393.1	-	5	1069	c.1070A>T	c.(1069-1071)gAt>gTt	p.D357V	MCTP1_ENST00000429576.2_Missense_Mutation_p.D136V|MCTP1_ENST00000505208.1_Missense_Mutation_p.D136V|MCTP1_ENST00000312216.8_Missense_Mutation_p.D136V	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	357					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		AAGGGTCACATCTGTGGGCCT	0.333																																					p.D357V		Atlas-SNP	.											.	MCTP1	110	.	0			c.A1070T						.						122.0	123.0	123.0					5																	94275891		2203	4300	6503	SO:0001583	missense	79772	exon5			GTCACATCTGTGG		CCDS34203.1, CCDS47247.1, CCDS75275.1	5q15	2008-02-05			ENSG00000175471	ENSG00000175471			26183	protein-coding gene	gene with protein product						15528213	Standard	XM_005272082		Approved	FLJ22344	uc003kkx.2	Q6DN14	OTTHUMG00000162742	ENST00000515393.1:c.1070A>T	chr5.hg19:g.94275891T>A	ENSP00000424126:p.Asp357Val	76.0	0.0		78.0	43.0	NM_024717	Q6DN13|Q8N2W1|Q8NBA2|Q96LX0|Q9H6E8	Missense_Mutation	SNP	ENST00000515393.1	hg19	CCDS34203.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.40|16.40	3.112821|3.112821	0.56398|0.56398	.|.	.|.	ENSG00000175471|ENSG00000175471	ENST00000515393;ENST00000429576;ENST00000312216;ENST00000508509;ENST00000512425;ENST00000505208;ENST00000415885;ENST00000507214;ENST00000514780|ENST00000503301	T;T;T;T;T;T;T;T|.	0.78924|.	-0.2;-0.2;-0.2;-0.2;-1.22;-0.2;-0.2;-0.2|.	5.63|5.63	5.63|5.63	0.86233|0.86233	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.56277|0.56277	0.1974|0.1974	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	D;D;P|.	0.76494|.	0.999;0.993;0.843|.	D;D;B|.	0.73380|.	0.98;0.917;0.429|.	T|T	0.52480|0.52480	-0.8570|-0.8570	10|5	0.87932|.	D|.	0|.	-15.8603|-15.8603	16.1297|16.1297	0.81418|0.81418	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	357;136;136|.	Q6DN14;Q6DN14-3;Q6DN14-2|.	MCTP1_HUMAN;.;.|.	V|S	357;136;136;136;18;136;98;118;117|165	ENSP00000424126:D357V;ENSP00000391639:D136V;ENSP00000308957:D136V;ENSP00000423410:D136V;ENSP00000431075:D18V;ENSP00000426438:D136V;ENSP00000424936:D118V;ENSP00000421543:D117V|.	ENSP00000308957:D136V|.	D|R	-|-	2|3	0|2	MCTP1|MCTP1	94301647|94301647	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.954000|0.954000	0.61252|0.61252	6.573000|6.573000	0.74009|0.74009	2.270000|2.270000	0.75569|0.75569	0.460000|0.460000	0.39030|0.39030	GAT|AGA	.	.		0.333	MCTP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370280.3	NM_024717	
SPATA9	83890	hgsc.bcm.edu	37	5	95018538	95018538	+	Silent	SNP	C	C	T	rs373326650		TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr5:95018538C>T	ENST00000274432.8	-	1	162	c.21G>A	c.(19-21)ggG>ggA	p.G7G	SPATA9_ENST00000477047.2_5'UTR|SPATA9_ENST00000395899.3_Silent_p.G7G|RFESD_ENST00000508206.1_Intron	NM_031952.3	NP_114158.2	Q9BWV2	SPAT9_HUMAN	spermatogenesis associated 9	7					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)				large_intestine(3)|lung(4)	7		all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.91e-16)		CACATATCCACCCAACAGGTT	0.458																																					p.G7G		Atlas-SNP	.											.	SPATA9	17	.	0			c.G21A						.						149.0	142.0	144.0					5																	95018538		2203	4300	6503	SO:0001819	synonymous_variant	83890	exon1			TATCCACCCAACA	AK093225	CCDS4076.1	5q15	2008-02-05			ENSG00000145757	ENSG00000145757			22988	protein-coding gene	gene with protein product		608039				12493713	Standard	NM_031952		Approved	NYD-SP16, FLJ35906	uc003klj.1	Q9BWV2	OTTHUMG00000121169	ENST00000274432.8:c.21G>A	chr5.hg19:g.95018538C>T		107.0	0.0		161.0	7.0	NM_031952	A8K8H3|Q4G122|Q86X33|Q8NA28	Silent	SNP	ENST00000274432.8	hg19	CCDS4076.1																																																																																			.	.		0.458	SPATA9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304036.1	NM_031952	
FBXL17	64839	hgsc.bcm.edu	37	5	107356642	107356642	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr5:107356642A>T	ENST00000542267.1	-	7	2212	c.1806T>A	c.(1804-1806)tgT>tgA	p.C602*	FBXL17_ENST00000359660.5_Nonsense_Mutation_p.C204*|FBXL17_ENST00000496714.1_Nonsense_Mutation_p.C204*	NM_001163315.2	NP_001156787.2	Q9UF56	FXL17_HUMAN	F-box and leucine-rich repeat protein 17	602										endometrium(1)|large_intestine(4)|lung(1)	6		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)		CTGTGATTTTACAGGACACCA	0.328																																					p.C602X		Atlas-SNP	.											.	FBXL17	60	.	0			c.T1806A						.						109.0	110.0	110.0					5																	107356642		2202	4300	6502	SO:0001587	stop_gained	64839	exon7			GATTTTACAGGAC	AL133602	CCDS54886.1	5q21.3	2011-06-09	2004-06-15	2004-06-16	ENSG00000145743	ENSG00000145743		"""F-boxes / Leucine-rich repeats"""	13615	protein-coding gene	gene with protein product		609083	"""F-box only protein 13"""	FBXO13			Standard	NM_001163315		Approved	DKFZP434C1715, Fbx13, Fbl17	uc011cvc.2	Q9UF56	OTTHUMG00000159785	ENST00000542267.1:c.1806T>A	chr5.hg19:g.107356642A>T	ENSP00000437464:p.Cys602*	56.0	0.0		70.0	19.0	NM_001163315	A1A4E3	Nonsense_Mutation	SNP	ENST00000542267.1	hg19	CCDS54886.1	.	.	.	.	.	.	.	.	.	.	A	40	8.386735	0.98789	.	.	ENSG00000145743	ENST00000359660;ENST00000542267;ENST00000496714	.	.	.	5.5	4.34	0.51931	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.4727	0.32995	0.8506:0.0:0.1494:0.0	.	.	.	.	X	204;602;204	.	ENSP00000352683:C204X	C	-	3	2	FBXL17	107384541	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.897000	0.48664	0.929000	0.37192	0.528000	0.53228	TGT	.	.		0.328	FBXL17-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
LOX	4015	hgsc.bcm.edu	37	5	121405851	121405851	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr5:121405851G>A	ENST00000231004.4	-	6	1443	c.1144C>T	c.(1144-1146)Ccc>Tcc	p.P382S	LOX_ENST00000513319.1_5'UTR|SRFBP1_ENST00000504881.1_Intron	NM_001178102.1|NM_002317.5	NP_001171573.1|NP_002308.2	P28300	LYOX_HUMAN	lysyl oxidase	382	Lysyl-oxidase like.				blood vessel development (GO:0001568)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|elastic fiber assembly (GO:0048251)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|wound healing (GO:0042060)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)			endometrium(1)|lung(6)|prostate(1)	8		all_cancers(142;0.0124)|Prostate(80;0.0322)|Ovarian(225;0.0814)|Breast(839;0.143)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;2.14e-11)|OV - Ovarian serous cystadenocarcinoma(64;7.87e-10)|all cancers(49;2.49e-09)|COAD - Colon adenocarcinoma(49;0.02)		AGGTAGCTGGGGTTTACACTG	0.438																																					p.P382S		Atlas-SNP	.											.	LOX	29	.	0			c.C1144T						.						121.0	112.0	115.0					5																	121405851		2203	4300	6503	SO:0001583	missense	4015	exon6			AGCTGGGGTTTAC		CCDS4129.1	5q23.3-q31.2	2008-02-05			ENSG00000113083	ENSG00000113083	1.4.3.13		6664	protein-coding gene	gene with protein product		153455				1685472	Standard	NM_002317		Approved		uc003ksu.3	P28300	OTTHUMG00000128914	ENST00000231004.4:c.1144C>T	chr5.hg19:g.121405851G>A	ENSP00000231004:p.Pro382Ser	115.0	0.0		180.0	27.0	NM_002317	B2R5Q3|Q5FWF0	Missense_Mutation	SNP	ENST00000231004.4	hg19	CCDS4129.1	.	.	.	.	.	.	.	.	.	.	G	33	5.200061	0.94997	.	.	ENSG00000113083	ENST00000231004;ENST00000543620	T	0.47869	0.83	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.75817	0.3901	M	0.89904	3.07	0.80722	D	1	D	0.71674	0.998	D	0.79108	0.992	T	0.81120	-0.1077	10	0.87932	D	0	.	19.3672	0.94468	0.0:0.0:1.0:0.0	.	382	P28300	LYOX_HUMAN	S	382;342	ENSP00000231004:P382S	ENSP00000231004:P382S	P	-	1	0	LOX	121433750	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.703000	0.98714	2.637000	0.89404	0.558000	0.71614	CCC	.	.		0.438	LOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250887.2		
SLC25A48	153328	hgsc.bcm.edu	37	5	135188444	135188444	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr5:135188444G>C	ENST00000420621.1	+	4	527	c.355G>C	c.(355-357)Ggg>Cgg	p.G119R	SLC25A48_ENST00000274513.5_Missense_Mutation_p.G119R|SLC25A48_ENST00000412661.2_Missense_Mutation_p.G119R|SLC25A48_ENST00000433282.2_Missense_Mutation_p.G65R|SLC25A48_ENST00000425402.1_Intron			Q6ZT89	S2548_HUMAN	solute carrier family 25, member 48	119					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						GGTCTCTGTCGGGCTGGGAGG	0.672																																					p.G119R		Atlas-SNP	.											.	SLC25A48	37	.	0			c.G355C						.						33.0	37.0	36.0					5																	135188444		1967	4133	6100	SO:0001583	missense	153328	exon4			TCTGTCGGGCTGG		CCDS43366.2	5q31.1	2013-05-22			ENSG00000145832	ENSG00000145832		"""Solute carriers"""	30451	protein-coding gene	gene with protein product	"""HCC-down-regulated mitochondrial carrier protein"""					15322095, 19303656	Standard	NM_145282		Approved	FLJ44862, HDMCP	uc003lba.3	Q6ZT89	OTTHUMG00000157007	ENST00000420621.1:c.355G>C	chr5.hg19:g.135188444G>C	ENSP00000407973:p.Gly119Arg	135.0	0.0		207.0	22.0	NM_145282	Q8TAV9	Missense_Mutation	SNP	ENST00000420621.1	hg19		.	.	.	.	.	.	.	.	.	.	G	14.72	2.618770	0.46736	.	.	ENSG00000145832	ENST00000274513;ENST00000420621;ENST00000433282;ENST00000412661	T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.14	5.08	5.08	0.68730	.	0.105021	0.64402	D	0.000004	D	0.86414	0.5927	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.85130	0.979;0.997	D	0.84792	0.0779	10	0.33141	T	0.24	-28.3799	18.4819	0.90815	0.0:0.0:1.0:0.0	.	119;119	Q6ZT89-3;Q6ZT89-2	.;.	R	119;119;65;119	ENSP00000274513:G119R;ENSP00000407973:G119R;ENSP00000399834:G65R;ENSP00000413049:G119R	ENSP00000274513:G119R	G	+	1	0	SLC25A48	135216343	1.000000	0.71417	0.370000	0.25965	0.268000	0.26511	5.794000	0.69067	2.359000	0.80004	0.462000	0.41574	GGG	.	.		0.672	SLC25A48-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_145282	
TRPC7	57113	hgsc.bcm.edu	37	5	135651437	135651437	+	Missense_Mutation	SNP	T	T	G			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr5:135651437T>G	ENST00000513104.1	-	3	1093	c.811A>C	c.(811-813)Aag>Cag	p.K271Q	TRPC7_ENST00000426057.2_Intron|TRPC7-AS2_ENST00000513958.1_RNA|TRPC7_ENST00000355180.3_Intron	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	271					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ACAAAATCCTTGCATTGCATA	0.488																																					p.K271Q		Atlas-SNP	.											.	TRPC7	126	.	0			c.A811C						.						71.0	74.0	73.0					5																	135651437		2073	4231	6304	SO:0001583	missense	57113	exon3			AATCCTTGCATTG	AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.811A>C	chr5.hg19:g.135651437T>G	ENSP00000426070:p.Lys271Gln	67.0	0.0		130.0	66.0	NM_020389	A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Missense_Mutation	SNP	ENST00000513104.1	hg19	CCDS47267.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.5|21.5	4.157050|4.157050	0.78114|0.78114	.|.	.|.	ENSG00000069018|ENSG00000069018	ENST00000513104;ENST00000265193|ENST00000502753	T|.	0.68903|.	-0.36|.	5.64|5.64	5.64|5.64	0.86602|0.86602	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.58935|0.58935	0.2157|0.2157	L|L	0.36672|0.36672	1.1|1.1	0.80722|0.80722	D|D	1|1	D;P|.	0.71674|.	0.998;0.762|.	D;B|.	0.73380|.	0.98;0.403|.	T|T	0.54840|0.54840	-0.8233|-0.8233	10|5	0.14656|.	T|.	0.56|.	-27.9049|-27.9049	16.0238|16.0238	0.80522|0.80522	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	271;271|.	Q70T25;Q9HCX4|.	.;TRPC7_HUMAN|.	Q|P	271|270	ENSP00000426070:K271Q|.	ENSP00000265193:K271Q|.	K|Q	-|-	1|2	0|0	TRPC7|TRPC7	135679336|135679336	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.868000|7.868000	0.87116|0.87116	2.367000|2.367000	0.80283|0.80283	0.528000|0.528000	0.53228|0.53228	AAG|CAA	.	.		0.488	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1	NM_020389	
PCDHA13	56136	hgsc.bcm.edu	37	5	140262151	140262151	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr5:140262151G>A	ENST00000289272.2	+	1	298	c.298G>A	c.(298-300)Gcg>Acg	p.A100T	PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.A100T|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	100	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGCGGAGCGCGGAGTGCAG	0.557																																					p.A100T	Melanoma(147;1739 1852 5500 27947 37288)	Atlas-SNP	.											.	PCDHA13	213	.	0			c.G298A						.						128.0	139.0	135.0					5																	140262151		2203	4298	6501	SO:0001583	missense	56136	exon1			CGGAGCGCGGAGT	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.298G>A	chr5.hg19:g.140262151G>A	ENSP00000289272:p.Ala100Thr	112.0	0.0		186.0	31.0	NM_031865	O75277	Missense_Mutation	SNP	ENST00000289272.2	hg19	CCDS4240.1	.	.	.	.	.	.	.	.	.	.	G	9.105	1.005045	0.19199	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.27104	1.69;1.69	5.58	-1.46	0.08800	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.17704	0.0425	L	0.33189	0.99	0.09310	N	1	B;B;B	0.30033	0.197;0.168;0.266	B;B;B	0.26770	0.022;0.073;0.005	T	0.17137	-1.0379	9	0.37606	T	0.19	.	11.3185	0.49407	0.0:0.5547:0.1696:0.2757	.	100;100;100	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	T	100	ENSP00000386821:A100T;ENSP00000289272:A100T	ENSP00000289272:A100T	A	+	1	0	PCDHA13	140242335	0.000000	0.05858	0.953000	0.39169	0.737000	0.42083	-1.380000	0.02551	-0.247000	0.09597	-0.311000	0.09066	GCG	.	.		0.557	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904	
PCDHGA5	56110	hgsc.bcm.edu	37	5	140744468	140744468	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr5:140744468T>A	ENST00000518069.1	+	1	571	c.571T>A	c.(571-573)Tat>Aat	p.Y191N	PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	191	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGACAAAAGTATCCGGAGCT	0.562																																					p.Y191N		Atlas-SNP	.											.	PCDHGA5	215	.	0			c.T571A						.						61.0	63.0	62.0					5																	140744468		2011	4178	6189	SO:0001583	missense	56110	exon1			CAAAAGTATCCGG	AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"""Cadherins / Protocadherins : Clustered"""	8703	other	protocadherin	"""cadherin ME3"""	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.571T>A	chr5.hg19:g.140744468T>A	ENSP00000429834:p.Tyr191Asn	96.0	0.0		186.0	77.0	NM_032054	Q2M3F5|Q9Y5D2	Missense_Mutation	SNP	ENST00000518069.1	hg19	CCDS54925.1	.	.	.	.	.	.	.	.	.	.	.	8.086	0.773421	0.16051	.	.	ENSG00000253485	ENST00000518069	T	0.19669	2.13	5.52	2.99	0.34606	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.20210	0.0486	M	0.65677	2.01	0.09310	N	1	B;B	0.14805	0.005;0.011	B;B	0.20577	0.03;0.02	T	0.25984	-1.0116	9	0.36615	T	0.2	.	2.9328	0.05804	0.2937:0.1777:0.0:0.5286	.	191;191	Q9Y5G8-2;Q9Y5G8	.;PCDG5_HUMAN	N	191	ENSP00000429834:Y191N	ENSP00000429834:Y191N	Y	+	1	0	PCDHGA5	140724652	0.000000	0.05858	0.930000	0.37139	0.915000	0.54546	-1.238000	0.02919	1.047000	0.40274	0.460000	0.39030	TAT	.	.		0.562	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374742.1	NM_018918	
PCDHGA12	26025	hgsc.bcm.edu	37	5	140811636	140811636	+	Missense_Mutation	SNP	A	A	G	rs572724741	byFrequency	TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr5:140811636A>G	ENST00000252085.3	+	1	1452	c.1310A>G	c.(1309-1311)cAt>cGt	p.H437R	PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000398587.2_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	437	Cadherin 4. {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)			ACGGAAACTCATATCTCGCTG	0.542													a|||	7	0.00139776	0.0	0.0	5008	,	,		16557	0.0		0.0	False		,,,				2504	0.0072				p.H437R		Atlas-SNP	.											.	PCDHGA12	271	.	0			c.A1310G						.						60.0	66.0	64.0					5																	140811636		2203	4300	6503	SO:0001583	missense	26025	exon1			AAACTCATATCTC	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.1310A>G	chr5.hg19:g.140811636A>G	ENSP00000252085:p.His437Arg	96.0	0.0		153.0	18.0	NM_032094	O15100|Q6UW70|Q9Y5D7	Missense_Mutation	SNP	ENST00000252085.3	hg19	CCDS4260.1	.	.	.	.	.	.	.	.	.	.	a	0.019	-1.454401	0.01071	.	.	ENSG00000253159	ENST00000252085	T	0.01647	4.71	5.36	2.92	0.33932	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.02193	0.0068	M	0.63208	1.945	0.09310	N	1	B;B	0.14805	0.011;0.006	B;B	0.21151	0.031;0.033	T	0.49781	-0.8903	9	0.25751	T	0.34	.	0.5167	0.00604	0.4307:0.1413:0.1555:0.2725	.	437;437	O60330-2;O60330	.;PCDGC_HUMAN	R	437	ENSP00000252085:H437R	ENSP00000252085:H437R	H	+	2	0	PCDHGA12	140791820	0.000000	0.05858	0.057000	0.19452	0.014000	0.08584	-0.521000	0.06245	0.324000	0.23333	0.533000	0.62120	CAT	.	.		0.542	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	NM_003735	
PRELID2	153768	hgsc.bcm.edu	37	5	145197614	145197614	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr5:145197614T>A	ENST00000334744.4	-	5	299	c.247A>T	c.(247-249)Agc>Tgc	p.S83C	PRELID2_ENST00000358004.2_Missense_Mutation_p.S71C|PRELID2_ENST00000394450.2_Missense_Mutation_p.S42C|PRELID2_ENST00000511435.1_Missense_Mutation_p.S71C|PRELID2_ENST00000505416.1_Missense_Mutation_p.S71C	NM_182960.2	NP_892005.1	Q8N945	PRLD2_HUMAN	PRELI domain containing 2	83	PRELI/MSF1. {ECO:0000255|PROSITE- ProRule:PRU00158}.				phospholipid transport (GO:0015914)	mitochondrial intermembrane space (GO:0005758)	phosphatidic acid transporter activity (GO:1990050)			endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCAAAATGCTCACCTGTCCA	0.433																																					p.S83C		Atlas-SNP	.											.	PRELID2	16	.	0			c.A247T						.						76.0	66.0	70.0					5																	145197614		2203	4300	6503	SO:0001583	missense	153768	exon5			AAATGCTCACCTG	AK095695	CCDS34261.1, CCDS34262.1, CCDS43377.1	5q32	2012-04-23			ENSG00000186314	ENSG00000186314			28306	protein-coding gene	gene with protein product						12477932	Standard	NM_182960		Approved	MGC21644, FLJ38376	uc003lnq.1	Q8N945	OTTHUMG00000163384	ENST00000334744.4:c.247A>T	chr5.hg19:g.145197614T>A	ENSP00000335675:p.Ser83Cys	65.0	0.0		111.0	20.0	NM_182960	G5EA01|Q96EQ3	Missense_Mutation	SNP	ENST00000334744.4	hg19	CCDS34262.1	.	.	.	.	.	.	.	.	.	.	T	18.09	3.547265	0.65311	.	.	ENSG00000186314	ENST00000358004;ENST00000334744;ENST00000394450;ENST00000505416;ENST00000511435	T;T;T;T;T	0.48201	2.17;2.08;0.82;2.17;2.18	5.84	5.84	0.93424	PRELI/MSF1 (2);	0.116572	0.64402	D	0.000015	T	0.59569	0.2203	L	0.51422	1.61	0.46631	D	0.99913	P;P;D	0.62365	0.946;0.896;0.991	P;P;P	0.59288	0.733;0.487;0.855	T	0.61297	-0.7091	10	0.59425	D	0.04	-21.1438	15.2019	0.73147	0.0:0.0:0.0:1.0	.	71;71;83	D6RAB6;G5EA01;Q8N945	.;.;PRLD2_HUMAN	C	71;83;42;71;71	ENSP00000350694:S71C;ENSP00000335675:S83C;ENSP00000377965:S42C;ENSP00000424730:S71C;ENSP00000422789:S71C	ENSP00000335675:S83C	S	-	1	0	PRELID2	145177807	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	2.361000	0.44160	2.234000	0.73211	0.528000	0.53228	AGC	.	.		0.433	PRELID2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000372970.1	NM_182960	
GABRP	2568	hgsc.bcm.edu	37	5	170232776	170232776	+	Missense_Mutation	SNP	C	C	A	rs79061387	byFrequency	TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr5:170232776C>A	ENST00000518525.1	+	8	1062	c.598C>A	c.(598-600)Cgt>Agt	p.R200S	GABRP_ENST00000519385.1_Missense_Mutation_p.R200S|GABRP_ENST00000265294.4_Missense_Mutation_p.R200S|GABRP_ENST00000519598.1_Missense_Mutation_p.R200S			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	200					signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)	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(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CGACTCTGTGCGTGGACTGGA	0.522																																					p.R200S		Atlas-SNP	.											.	GABRP	65	.	0			c.C598A						.						91.0	80.0	83.0					5																	170232776		2203	4300	6503	SO:0001583	missense	2568	exon7			TCTGTGCGTGGAC	U95367	CCDS4375.1, CCDS75368.1	5q35.1	2012-06-22			ENSG00000094755	ENSG00000094755		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4089	protein-coding gene	gene with protein product	"""GABA(A) receptor, pi"""	602729				9182563	Standard	NM_014211		Approved		uc003mau.3	O00591	OTTHUMG00000130443	ENST00000518525.1:c.598C>A	chr5.hg19:g.170232776C>A	ENSP00000430100:p.Arg200Ser	106.0	0.0		135.0	49.0	NM_014211	A8KA36|D3DQL2|Q32MJ1	Missense_Mutation	SNP	ENST00000518525.1	hg19	CCDS4375.1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.757949	0.49468	.	.	ENSG00000094755	ENST00000518525;ENST00000539175;ENST00000265294;ENST00000519385;ENST00000519598	T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08	5.12	5.12	0.69794	Neurotransmitter-gated ion-channel ligand-binding (3);	0.164522	0.53938	D	0.000043	T	0.59183	0.2175	N	0.05487	-0.04	0.42174	D	0.991651	B;B	0.31290	0.121;0.318	B;B	0.25405	0.06;0.057	T	0.59306	-0.7479	9	.	.	.	.	18.1856	0.89791	0.0:1.0:0.0:0.0	.	200;200	E7EWG0;O00591	.;GBRP_HUMAN	S	200;98;200;200;200	ENSP00000430100:R200S;ENSP00000265294:R200S;ENSP00000430727:R200S;ENSP00000430772:R200S	.	R	+	1	0	GABRP	170165354	0.986000	0.35501	1.000000	0.80357	0.995000	0.86356	5.867000	0.69597	2.384000	0.81235	0.655000	0.94253	CGT	.	C|0.999;T|0.001		0.522	GABRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252834.3	NM_014211	
GPRIN1	114787	hgsc.bcm.edu	37	5	176024938	176024938	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr5:176024938T>A	ENST00000303991.4	-	2	2075	c.1898A>T	c.(1897-1899)cAg>cTg	p.Q633L		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	633					neuron projection development (GO:0031175)	cell projection (GO:0042995)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCACCAGACTGCGGCTGTGC	0.592																																					p.Q633L		Atlas-SNP	.											.	GPRIN1	77	.	0			c.A1898T						.						46.0	46.0	46.0					5																	176024938		2203	4300	6503	SO:0001583	missense	114787	exon2			CCAGACTGCGGCT	AB067480	CCDS4405.1	5q35.2	2008-02-05			ENSG00000169258	ENSG00000169258			24835	protein-coding gene	gene with protein product		611239				11572484	Standard	NM_052899		Approved	GRIN1, KIAA1893	uc003meo.1	Q7Z2K8	OTTHUMG00000130659	ENST00000303991.4:c.1898A>T	chr5.hg19:g.176024938T>A	ENSP00000305839:p.Gln633Leu	41.0	0.0		72.0	45.0	NM_052899	C9JM70|Q8ND74|Q96PZ4	Missense_Mutation	SNP	ENST00000303991.4	hg19	CCDS4405.1	.	.	.	.	.	.	.	.	.	.	T	9.638	1.138281	0.21123	.	.	ENSG00000169258	ENST00000303991;ENST00000335532	T	0.08193	3.12	4.1	-6.77	0.01727	.	1.999330	0.02839	N	0.127779	T	0.05364	0.0142	L	0.36672	1.1	0.09310	N	1	B	0.18610	0.029	B	0.15870	0.014	T	0.34800	-0.9814	10	0.26408	T	0.33	3.8714	0.9331	0.01339	0.3874:0.2198:0.1003:0.2924	.	633	Q7Z2K8	GRIN1_HUMAN	L	633	ENSP00000305839:Q633L	ENSP00000305839:Q633L	Q	-	2	0	GPRIN1	175957544	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.372000	0.07504	-0.985000	0.03503	-0.475000	0.04921	CAG	.	.		0.592	GPRIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253149.1	NM_052899	
FOXQ1	94234	hgsc.bcm.edu	37	6	1313560	1313560	+	Silent	SNP	G	G	T			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr6:1313560G>T	ENST00000296839.2	+	1	886	c.621G>T	c.(619-621)ggG>ggT	p.G207G		NM_033260.3	NP_150285.3	Q9C009	FOXQ1_HUMAN	forkhead box Q1	207					hair follicle morphogenesis (GO:0031069)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(1)|urinary_tract(1)	2	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)		TCGCCGACGGGGTCTTCCGCC	0.756																																					p.G207G		Atlas-SNP	.											.	FOXQ1	8	.	0			c.G621T						.						16.0	20.0	19.0					6																	1313560		2160	4257	6417	SO:0001819	synonymous_variant	94234	exon1			CGACGGGGTCTTC	AF153341	CCDS4471.1	6p25	2008-02-05			ENSG00000164379	ENSG00000164379		"""Forkhead boxes"""	20951	protein-coding gene	gene with protein product		612788				11747606, 12011061	Standard	NM_033260		Approved	HFH1	uc003mtl.4	Q9C009	OTTHUMG00000016160	ENST00000296839.2:c.621G>T	chr6.hg19:g.1313560G>T		78.0	0.0		114.0	56.0	NM_033260	Q9NS06	Silent	SNP	ENST00000296839.2	hg19	CCDS4471.1																																																																																			.	.		0.756	FOXQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043410.1	NM_033260	
MBOAT1	154141	hgsc.bcm.edu	37	6	20131376	20131376	+	Splice_Site	SNP	A	A	G			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr6:20131376A>G	ENST00000324607.7	-	5	638	c.474T>C	c.(472-474)gaT>gaC	p.D158D	MBOAT1_ENST00000541730.1_Intron|MBOAT1_ENST00000536798.1_Splice_Site_p.D158D	NM_001080480.1	NP_001073949.1	Q6ZNC8	MBOA1_HUMAN	membrane bound O-acyltransferase domain containing 1	158					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)			breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5)	20	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)			TGTTCTTACCATCATGAACCT	0.433																																					p.D158D		Atlas-SNP	.											.	MBOAT1	48	.	0			c.T474C						.						155.0	144.0	148.0					6																	20131376		2203	4300	6503	SO:0001630	splice_region_variant	154141	exon5			CTTACCATCATGA	AK093994	CCDS34346.1	6p22.3	2013-10-11	2006-06-29	2006-06-29	ENSG00000172197	ENSG00000172197			21579	protein-coding gene	gene with protein product	"""lysophosphatidylethanolamine acyltransferase 1"""	611732	"""O-acyltransferase (membrane bound) domain containing 1"""	OACT1		18287005	Standard	NM_001080480		Approved	MGC44669, dJ434O11.1, LPEAT1	uc003ncx.2	Q6ZNC8	OTTHUMG00000014334	ENST00000324607.7:c.475+1T>C	chr6.hg19:g.20131376A>G		73.0	0.0		70.0	18.0	NM_001080480	A9EDQ5|B4DL59|B4E3J4|Q86XC2|Q8N9R5	Silent	SNP	ENST00000324607.7	hg19	CCDS34346.1																																																																																			.	.		0.433	MBOAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039980.1		Silent
ZSCAN12	9753	hgsc.bcm.edu	37	6	28359478	28359479	+	Nonsense_Mutation	DNP	GC	GC	AA			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr6:28359478_28359479GC>AA	ENST00000361028.1	-	4	733_734	c.588_589GC>TT	c.(586-591)aaGCaa>aaTTaa	p.196_197KQ>N*	ZSCAN12_ENST00000396827.3_Nonsense_Mutation_p.196_197KQ>N*			O43309	ZSC12_HUMAN	zinc finger and SCAN domain containing 12	196					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(3)|urinary_tract(1)	6						GAAACTTCTTGCTTTAAATTCC	0.351																																					p.Q197X|p.K196N		Atlas-SNP	.											.	ZSCAN12	35	.	0			c.C589T|c.G588T						.																																			SO:0001587	stop_gained	9753	exon4			CTTCTTGCTTTAA|TTCTTGCTTTAAA	AB007886		6p21	2013-01-08	2007-02-20	2007-02-20	ENSG00000158691	ENSG00000158691		"""-"", ""Zinc fingers, C2H2-type"""	13172	protein-coding gene	gene with protein product		603978	"""zinc finger protein 305"", ""zinc finger protein 96"""	ZNF305, ZNF96		9244436	Standard	NM_001163391		Approved	KIAA0426, ZNF29K1, ZFP96, dJ29K1.2	uc011dlh.2	O43309	OTTHUMG00000014522	ENST00000361028.1:c.588_589delinsAA	chr6.hg19:g.28359478_28359479delinsAA	ENSP00000354305:p.K196_Q197delinsN*	22.0	0.0		37.0|36.0	27.0|28.0	NM_001163391	O43724	Nonsense_Mutation|Missense_Mutation	SNP	ENST00000361028.1	hg19																																																																																				.	.		0.351	ZSCAN12-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000040190.1	NM_014724	
PSORS1C1	170679	hgsc.bcm.edu	37	6	31106509	31106509	+	Silent	SNP	C	C	T			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr6:31106509C>T	ENST00000259881.9	+	5	409	c.120C>T	c.(118-120)caC>caT	p.H40H	PSORS1C2_ENST00000259845.4_Intron|PSORS1C1_ENST00000547221.1_5'UTR|PSORS1C1_ENST00000481450.2_Intron	NM_014068.2	NP_054787.2	Q9UIG5	PS1C1_HUMAN	psoriasis susceptibility 1 candidate 1	40										kidney(1)|ovary(2)|prostate(1)|skin(1)	5						GTCCCCCCCACGTTAATCCTG	0.562																																					p.H40H		Atlas-SNP	.											.	PSORS1C1	11	.	0			c.C120T						.						150.0	149.0	149.0					6																	31106509		1511	2709	4220	SO:0001819	synonymous_variant	170679	exon5			CCCCCACGTTAAT	AB031479	CCDS34390.1	6p21.3	2014-01-28	2003-06-12		ENSG00000204540	ENSG00000204540			17202	protein-coding gene	gene with protein product		613525	"""chromosome 6 open reading frame 16"""	C6orf16			Standard	NM_014068		Approved	SEEK1	uc003nsl.2	Q9UIG5	OTTHUMG00000031077	ENST00000259881.9:c.120C>T	chr6.hg19:g.31106509C>T		73.0	0.0		82.0	17.0	NM_014068	B0V083|Q5ST21|Q86WJ8|Q86WJ9|Q96QC3	Silent	SNP	ENST00000259881.9	hg19	CCDS34390.1																																																																																			.	.		0.562	PSORS1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076110.3	NM_014068	
FOXP4	116113	hgsc.bcm.edu	37	6	41566593	41566593	+	Silent	SNP	G	G	C			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr6:41566593G>C	ENST00000307972.4	+	16	1974	c.1962G>C	c.(1960-1962)ctG>ctC	p.L654L	FOXP4_ENST00000373057.3_Silent_p.L652L|MIR4641_ENST00000578353.1_RNA|FOXP4_ENST00000409208.1_Silent_p.L642L|FOXP4_ENST00000373060.1_Silent_p.L654L|FOXP4_ENST00000373063.3_Silent_p.L641L			Q8IVH2	FOXP4_HUMAN	forkhead box P4	654					embryonic foregut morphogenesis (GO:0048617)|heart development (GO:0007507)|lung secretory cell differentiation (GO:0061140)|negative regulation of lung goblet cell differentiation (GO:1901250)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					GGCCTCCCCTGGGCGCCCCTA	0.672																																					p.L654L		Atlas-SNP	.											.	FOXP4	83	.	0			c.G1962C						.						15.0	18.0	17.0					6																	41566593		2190	4282	6472	SO:0001819	synonymous_variant	116113	exon17			TCCCCTGGGCGCC	AB080747	CCDS4856.1, CCDS34447.1, CCDS34448.1	6p21.1	2008-02-05			ENSG00000137166	ENSG00000137166		"""Forkhead boxes"""	20842	protein-coding gene	gene with protein product		608924					Standard	XM_006714991		Approved	FLJ40908	uc003oql.3	Q8IVH2	OTTHUMG00000014679	ENST00000307972.4:c.1962G>C	chr6.hg19:g.41566593G>C		200.0	0.0		174.0	78.0	NM_001012426	Q5W098|Q7Z7F8|Q8IW55|Q96E19	Silent	SNP	ENST00000307972.4	hg19	CCDS34447.1																																																																																			.	.		0.672	FOXP4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000106767.1	NM_138457	
MEP1A	4224	hgsc.bcm.edu	37	6	46803136	46803136	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr6:46803136A>T	ENST00000230588.4	+	13	1943	c.1934A>T	c.(1933-1935)cAg>cTg	p.Q645L		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	645					digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|meprin A complex (GO:0017090)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			AGCCTGAGCCAGGGGCAGCCC	0.607																																					p.Q645L		Atlas-SNP	.											.	MEP1A	93	.	0			c.A1934T						.						22.0	21.0	21.0					6																	46803136		2203	4300	6503	SO:0001583	missense	4224	exon13			TGAGCCAGGGGCA		CCDS4918.1	6p12-p11	2010-10-18			ENSG00000112818	ENSG00000112818	3.4.24.18		7015	protein-coding gene	gene with protein product		600388				7774936	Standard	NM_005588		Approved	PPHA	uc010jzh.1	Q16819	OTTHUMG00000014790	ENST00000230588.4:c.1934A>T	chr6.hg19:g.46803136A>T	ENSP00000230588:p.Gln645Leu	67.0	0.0		95.0	26.0	NM_005588	A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	Missense_Mutation	SNP	ENST00000230588.4	hg19	CCDS4918.1	.	.	.	.	.	.	.	.	.	.	A	7.561	0.664682	0.14710	.	.	ENSG00000112818	ENST00000230588	T	0.24908	1.83	5.35	2.88	0.33553	.	0.784026	0.12295	N	0.481627	T	0.08582	0.0213	L	0.56769	1.78	0.18873	N	0.999981	B;B	0.30482	0.118;0.281	B;B	0.22601	0.025;0.04	T	0.27191	-1.0081	10	0.33940	T	0.23	-3.3402	6.602	0.22705	0.7619:0.1552:0.0828:0.0	.	673;645	B7ZL91;Q16819	.;MEP1A_HUMAN	L	645	ENSP00000230588:Q645L	ENSP00000230588:Q645L	Q	+	2	0	MEP1A	46911095	0.973000	0.33851	0.102000	0.21198	0.027000	0.11550	1.558000	0.36309	0.330000	0.23485	0.528000	0.53228	CAG	.	.		0.607	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040803.1	NM_005588	
PTCHD4	442213	hgsc.bcm.edu	37	6	47869646	47869646	+	Intron	SNP	G	G	A			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr6:47869646G>A	ENST00000339488.4	-	3	941				PTCHD4_ENST00000543600.1_Silent_p.S294S	NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4							integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)										TTTGTTTCTAGCTTGAGGTAA	0.343																																					p.S311S		Atlas-SNP	.											.	.	.	.	0			c.C933T						.																																			SO:0001627	intron_variant	442213	exon3			TTTCTAGCTTGAG		CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 138"""	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.908-21974C>T	chr6.hg19:g.47869646G>A		46.0	0.0		62.0	36.0	NM_207499	B0QZ29|B4DRK3|Q5T884	Silent	SNP	ENST00000339488.4	hg19	CCDS34473.2																																																																																			.	.		0.343	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732	
IL17A	3605	hgsc.bcm.edu	37	6	52053894	52053894	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr6:52053894A>T	ENST00000340057.1	+	3	317	c.272A>T	c.(271-273)gAg>gTg	p.E91V		NM_002190.2	NP_002181.1	Q16552	IL17_HUMAN	interleukin 17A	91					apoptotic process (GO:0006915)|cell death (GO:0008219)|cell-cell signaling (GO:0007267)|cellular response to interleukin-1 (GO:0071347)|fibroblast activation (GO:0072537)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of interleukin-23 production (GO:0032747)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein glycosylation (GO:0006486)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)			endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1)	17	Lung NSC(77;0.116)					GTGATCTGGGAGGCAAAGTGC	0.532																																					p.E91V		Atlas-SNP	.											.	IL17A	28	.	0			c.A272T						.						65.0	57.0	60.0					6																	52053894		2203	4300	6503	SO:0001583	missense	3605	exon3			TCTGGGAGGCAAA	U32659	CCDS4937.1	6p12	2011-07-14	2006-04-26	2006-04-26	ENSG00000112115	ENSG00000112115		"""Interleukins and interleukin receptors"""	5981	protein-coding gene	gene with protein product	"""cytotoxic T-lymphocyte-associated protein 8"""	603149	"""interleukin 17 (cytotoxic T-lymphocyte-associated serine esterase 8)"""	CTLA8, IL17		8390535	Standard	NM_002190		Approved	IL-17A, IL-17	uc003pak.1	Q16552	OTTHUMG00000014840	ENST00000340057.1:c.272A>T	chr6.hg19:g.52053894A>T	ENSP00000344192:p.Glu91Val	69.0	0.0		110.0	37.0	NM_002190	Q5T2P0	Missense_Mutation	SNP	ENST00000340057.1	hg19	CCDS4937.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.080477	0.76528	.	.	ENSG00000112115	ENST00000340057	T	0.63255	-0.03	5.64	5.64	0.86602	.	0.112907	0.56097	D	0.000022	T	0.73931	0.3650	M	0.76838	2.35	0.50632	D	0.999885	D	0.69078	0.997	D	0.70016	0.967	T	0.76247	-0.3029	10	0.48119	T	0.1	-26.5823	15.8596	0.79012	1.0:0.0:0.0:0.0	.	91	Q16552	IL17_HUMAN	V	91	ENSP00000344192:E91V	ENSP00000344192:E91V	E	+	2	0	IL17A	52161853	1.000000	0.71417	1.000000	0.80357	0.688000	0.40055	6.365000	0.73090	2.158000	0.67659	0.496000	0.49642	GAG	.	.		0.532	IL17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040892.1	NM_002190	
EYS	346007	hgsc.bcm.edu	37	6	66115107	66115107	+	Missense_Mutation	SNP	A	A	G	rs149421359		TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr6:66115107A>G	ENST00000370621.3	-	6	1542	c.1016T>C	c.(1015-1017)gTa>gCa	p.V339A	EYS_ENST00000370618.3_Missense_Mutation_p.V339A|EYS_ENST00000342421.5_Missense_Mutation_p.V339A|EYS_ENST00000503581.1_Missense_Mutation_p.V339A|EYS_ENST00000393380.2_Missense_Mutation_p.V339A|EYS_ENST00000370616.2_Missense_Mutation_p.V339A			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	339	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						CTGACATGGTACTAATGAAAA	0.343																																					p.V339A		Atlas-SNP	.											.	EYS	527	.	0			c.T1016C						.	A	ALA/VAL,ALA/VAL,ALA/VAL	0,4406		0,0,2203	113.0	112.0	112.0		1016,1016,1016	-8.8	0.0	6	dbSNP_134	112	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	EYS	NM_198283.1,NM_001142801.1,NM_001142800.1	64,64,64	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign,benign,benign	339/595,339/620,339/3145	66115107	1,13005	2203	4300	6503	SO:0001583	missense	346007	exon6			CATGGTACTAATG		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.1016T>C	chr6.hg19:g.66115107A>G	ENSP00000359655:p.Val339Ala	172.0	0.0		243.0	123.0	NM_001142801	A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	ENST00000370621.3	hg19		.	.	.	.	.	.	.	.	.	.	A	7.298	0.612430	0.14066	0.0	1.16E-4	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	D;D;D;T;T;T	0.85411	-1.98;-1.98;-1.98;1.62;1.62;1.62	4.4	-8.8	0.00817	.	.	.	.	.	T	0.33876	0.0878	N	0.05259	-0.085	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.001	T	0.34625	-0.9821	9	0.19147	T	0.46	.	2.0294	0.03526	0.1626:0.2329:0.3785:0.2261	.	339;339;339	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	A	339	ENSP00000424243:V339A;ENSP00000359655:V339A;ENSP00000359650:V339A;ENSP00000377042:V339A;ENSP00000341818:V339A;ENSP00000359652:V339A	ENSP00000341818:V339A	V	-	2	0	EYS	66171828	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.781000	0.04648	-2.117000	0.00829	-0.644000	0.03951	GTA	.	A|1.000;G|0.000		0.343	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050	
COL12A1	1303	hgsc.bcm.edu	37	6	75799957	75799957	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr6:75799957C>A	ENST00000322507.8	-	63	9119	c.8810G>T	c.(8809-8811)aGt>aTt	p.S2937I	COL12A1_ENST00000483888.2_Missense_Mutation_p.S2933I|COL12A1_ENST00000345356.6_Missense_Mutation_p.S1773I|COL12A1_ENST00000416123.2_Missense_Mutation_p.S2861I|COL12A1_ENST00000511023.1_5'UTR	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2937	Nonhelical region (NC2).				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CTGGTTGCGACTGGACTGGTA	0.557																																					p.S2937I		Atlas-SNP	.											.	COL12A1	385	.	0			c.G8810T						.						155.0	165.0	162.0					6																	75799957		1898	4134	6032	SO:0001583	missense	1303	exon63			TTGCGACTGGACT	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.8810G>T	chr6.hg19:g.75799957C>A	ENSP00000325146:p.Ser2937Ile	47.0	0.0		60.0	17.0	NM_004370	O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	hg19	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	C	15.78	2.934790	0.52866	.	.	ENSG00000111799	ENST00000322507;ENST00000425443;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888	D;D;D;D;D	0.89875	-2.21;-2.58;-2.28;-2.2;-2.17	5.32	-4.65	0.03339	.	0.319059	0.29246	N	0.012719	T	0.66733	0.2819	N	0.03608	-0.345	0.25162	N	0.990341	P;P	0.45011	0.817;0.848	P;P	0.55999	0.684;0.789	T	0.70978	-0.4725	10	0.40728	T	0.16	.	6.7934	0.23711	0.1081:0.366:0.0:0.5259	.	1773;2937	Q99715-2;Q99715	.;COCA1_HUMAN	I	2937;575;2861;1773;2861;2933	ENSP00000325146:S2937I;ENSP00000399812:S575I;ENSP00000305147:S1773I;ENSP00000412864:S2861I;ENSP00000421216:S2933I	ENSP00000325146:S2937I	S	-	2	0	COL12A1	75856677	0.838000	0.29461	0.833000	0.33012	0.557000	0.35523	-0.281000	0.08456	-1.227000	0.02571	-0.961000	0.02630	AGT	.	.		0.557	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370	
ASCC3	10973	hgsc.bcm.edu	37	6	101054670	101054671	+	Nonsense_Mutation	DNP	CC	CC	AA			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr6:101054670_101054671CC>AA	ENST00000369162.2	-	32	5333_5334	c.4989_4990GG>TT	c.(4987-4992)aaGGga>aaTTga	p.1663_1664KG>N*		NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	1663	Helicase C-terminal 2. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		TATTCTGTTCCCTTAATAATTA	0.312																																					p.G1664X|p.K1663N		Atlas-SNP	.											.	ASCC3	205	.	0			c.G4990T|c.G4989T						.																																			SO:0001587	stop_gained	10973	exon32			CTGTTCCCTTAAT|TGTTCCCTTAATA	AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"""RNA helicase family"""	614217	"""helicase, ATP binding 1"""	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.4989_4990delinsAA	chr6.hg19:g.101054670_101054671delinsAA	ENSP00000358159:p.K1663_G1664delinsN*	87.0|86.0	0.0		67.0	30.0	NM_006828	E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Nonsense_Mutation|Missense_Mutation	SNP	ENST00000369162.2	hg19	CCDS5046.1																																																																																			.	.		0.312	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828	
IGF2BP3	10643	hgsc.bcm.edu	37	7	23391100	23391100	+	Silent	SNP	T	T	C			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr7:23391100T>C	ENST00000258729.3	-	6	863	c.507A>G	c.(505-507)cgA>cgG	p.R169R	IGF2BP3_ENST00000491719.1_5'UTR	NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	169					anatomical structure morphogenesis (GO:0009653)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation regulator activity (GO:0045182)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						CCCGGCGACCTCGGGGCTGCT	0.547																																					p.R169R		Atlas-SNP	.											.	IGF2BP3	71	.	0			c.A507G						.						36.0	40.0	38.0					7																	23391100		2203	4300	6503	SO:0001819	synonymous_variant	10643	exon6			GCGACCTCGGGGC	AF117108	CCDS5382.1	7p15.3	2014-02-19			ENSG00000136231	ENSG00000136231		"""RNA binding motif (RRM) containing"""	28868	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 3"", ""cancer/testis antigen 98"""	608259				9891060, 9178771	Standard	NM_006547		Approved	IMP-3, CT98, IMP3	uc003swg.3	O00425	OTTHUMG00000128445	ENST00000258729.3:c.507A>G	chr7.hg19:g.23391100T>C		39.0	0.0		53.0	9.0	NM_006547	A0A4Z5|Q63HM0|Q6MZZ2|Q86VB1	Silent	SNP	ENST00000258729.3	hg19	CCDS5382.1																																																																																			.	.		0.547	IGF2BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250243.2	NM_006547	
PPP1R17	10842	hgsc.bcm.edu	37	7	31732136	31732136	+	Splice_Site	SNP	A	A	T			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr7:31732136A>T	ENST00000342032.3	+	2	709	c.81A>T	c.(79-81)ttA>ttT	p.L27F	PPP1R17_ENST00000409146.3_Splice_Site_p.L27F	NM_006658.4	NP_006649.2	O96001	PPR17_HUMAN	protein phosphatase 1, regulatory subunit 17	27					central nervous system development (GO:0007417)|intracellular signal transduction (GO:0035556)|regulation of phosphatase activity (GO:0010921)		protein serine/threonine phosphatase inhibitor activity (GO:0004865)										GCAGCCACTTAGGTAAACAAA	0.522																																					p.L27F		Atlas-SNP	.											.	.	.	.	0			c.A81T						.						100.0	86.0	91.0					7																	31732136		2203	4300	6503	SO:0001630	splice_region_variant	10842	exon2			CCACTTAGGTAAA	AF071789	CCDS5436.1, CCDS47570.1	7p15	2012-04-17	2011-10-11	2011-10-11	ENSG00000106341	ENSG00000106341		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	16973	protein-coding gene	gene with protein product	"""G-substrate"""	604088	"""chromosome 7 open reading frame 16"""	C7orf16		10051666, 9920894	Standard	NM_006658		Approved	GSBS	uc003tcl.3	O96001	OTTHUMG00000128629	ENST00000342032.3:c.82+1A>T	chr7.hg19:g.31732136A>T		73.0	0.0		63.0	40.0	NM_006658	B4DE58|Q9UDQ0	Missense_Mutation	SNP	ENST00000342032.3	hg19	CCDS5436.1	.	.	.	.	.	.	.	.	.	.	A	14.60	2.584144	0.46110	.	.	ENSG00000106341	ENST00000342032;ENST00000409146	T;T	0.35973	1.28;1.37	6.17	-2.02	0.07388	.	0.577406	0.16632	N	0.206029	T	0.46678	0.1405	L	0.50333	1.59	0.33508	D	0.590766	D;D	0.67145	0.996;0.979	D;P	0.63877	0.919;0.839	T	0.59343	-0.7472	10	0.59425	D	0.04	.	12.5375	0.56150	0.6118:0.0:0.3882:0.0	.	27;27	B4DE58;O96001	.;PPR17_HUMAN	F	27	ENSP00000340125:L27F;ENSP00000386459:L27F	ENSP00000340125:L27F	L	+	3	2	C7orf16	31698661	1.000000	0.71417	0.934000	0.37439	0.262000	0.26303	1.756000	0.38390	-0.220000	0.09988	0.533000	0.62120	TTA	.	.		0.522	PPP1R17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250498.1	NM_006658	Missense_Mutation
DBNL	28988	hgsc.bcm.edu	37	7	44089828	44089828	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr7:44089828C>T	ENST00000448521.1	+	2	186	c.88C>T	c.(88-90)Ctc>Ttc	p.L30F	DBNL_ENST00000452943.1_Missense_Mutation_p.L30F|DBNL_ENST00000494774.1_Missense_Mutation_p.L30F|DBNL_ENST00000468694.1_Missense_Mutation_p.L30F|DBNL_ENST00000440166.1_Intron|DBNL_ENST00000497184.1_3'UTR|DBNL_ENST00000456905.1_Missense_Mutation_p.L30F|DBNL_ENST00000490734.2_5'UTR	NM_001014436.2	NP_001014436.1	Q9UJU6	DBNL_HUMAN	drebrin-like	30	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|endocytosis (GO:0006897)|immune system process (GO:0002376)|neuron projection morphogenesis (GO:0048812)|podosome assembly (GO:0071800)|Rac protein signal transduction (GO:0016601)|synapse assembly (GO:0007416)	cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|podosome (GO:0002102)|postsynaptic density (GO:0014069)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|enzyme activator activity (GO:0008047)			breast(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|stomach(1)	12						TTTCAGGGCTCTCTTTACCTA	0.532																																					p.L30F	NSCLC(68;573 1327 18604 34760 37992)	Atlas-SNP	.											.	DBNL	26	.	0			c.C88T						.						171.0	148.0	156.0					7																	44089828		2203	4300	6503	SO:0001583	missense	28988	exon2			AGGGCTCTCTTTA	AF151364	CCDS34622.1, CCDS34623.1, CCDS47579.1, CCDS64633.1, CCDS64634.1	7p13	2004-07-22			ENSG00000136279	ENSG00000136279			2696	protein-coding gene	gene with protein product		610106				10087302	Standard	NM_014063		Approved	SH3P7, HIP-55	uc003tjq.4	Q9UJU6	OTTHUMG00000155350	ENST00000448521.1:c.88C>T	chr7.hg19:g.44089828C>T	ENSP00000411701:p.Leu30Phe	82.0	0.0		99.0	24.0	NM_001122956	A4D2I9|B4DEM2|C9J7P1|P84070|Q6IAI8|Q96F30|Q96K74|Q9HBN8|Q9NR72	Missense_Mutation	SNP	ENST00000448521.1	hg19	CCDS34623.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.013445	0.75161	.	.	ENSG00000136279	ENST00000448521;ENST00000456905;ENST00000452943;ENST00000468694;ENST00000494774	T;T;T;T;T	0.40225	1.04;1.04;1.04;1.04;1.04	5.41	3.28	0.37604	Actin-binding, cofilin/tropomyosin type (3);	0.000000	0.64402	D	0.000011	T	0.70133	0.3189	M	0.92412	3.305	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;0.999;1.0	T	0.78069	-0.2348	10	0.72032	D	0.01	-33.5727	12.7176	0.57123	0.0:0.8406:0.0:0.1594	.	30;30;30;30;30	B4DDP6;B4DDD6;Q9UJU6-3;Q9UJU6;Q9UJU6-2	.;.;.;DBNL_HUMAN;.	F	30	ENSP00000411701:L30F;ENSP00000416421:L30F;ENSP00000405343:L30F;ENSP00000417653:L30F;ENSP00000419992:L30F	ENSP00000390397:L30F	L	+	1	0	DBNL	44056353	0.946000	0.32159	0.997000	0.53966	0.997000	0.91878	1.634000	0.37123	1.305000	0.44909	0.650000	0.86243	CTC	.	.		0.532	DBNL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339572.2	NM_014063	
NACAD	23148	hgsc.bcm.edu	37	7	45124713	45124713	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr7:45124713T>A	ENST00000490531.2	-	2	1085	c.1066A>T	c.(1066-1068)Agc>Tgc	p.S356C		NM_001146334.1	NP_001139806.1	O15069	NACAD_HUMAN	NAC alpha domain containing	356					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(2)|skin(2)	5						GCAGACGTGCTGTCCTCCTCA	0.637																																					p.S356C		Atlas-SNP	.											.	NACAD	44	.	0			c.A1066T						.						45.0	45.0	45.0					7																	45124713		692	1591	2283	SO:0001583	missense	23148	exon2			ACGTGCTGTCCTC	AB002361	CCDS47582.1	7p13	2010-07-14			ENSG00000136274	ENSG00000136274			22196	protein-coding gene	gene with protein product							Standard	NM_001146334		Approved	KIAA0363	uc003tmt.3	O15069	OTTHUMG00000159170	ENST00000490531.2:c.1066A>T	chr7.hg19:g.45124713T>A	ENSP00000420477:p.Ser356Cys	99.0	0.0		141.0	42.0	NM_001146334		Missense_Mutation	SNP	ENST00000490531.2	hg19	CCDS47582.1	.	.	.	.	.	.	.	.	.	.	T	15.15	2.747076	0.49257	.	.	ENSG00000136274	ENST00000490531	T	0.20738	2.05	4.17	4.17	0.49024	.	0.396803	0.18405	U	0.142253	T	0.31104	0.0786	L	0.27053	0.805	0.29699	N	0.840349	D	0.89917	1.0	D	0.68765	0.96	T	0.09552	-1.0669	10	0.87932	D	0	-9.296	12.158	0.54087	0.0:0.0:0.0:1.0	.	356	O15069	NACAD_HUMAN	C	356	ENSP00000420477:S356C	ENSP00000420477:S356C	S	-	1	0	NACAD	45091238	1.000000	0.71417	0.560000	0.28344	0.311000	0.27955	4.805000	0.62561	1.751000	0.51876	0.379000	0.24179	AGC	.	.		0.637	NACAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353652.2	NM_001146334	
FBXL13	222235	hgsc.bcm.edu	37	7	102603993	102603993	+	Silent	SNP	A	A	T			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr7:102603993A>T	ENST00000313221.4	-	8	1137	c.711T>A	c.(709-711)acT>acA	p.T237T	FBXL13_ENST00000471074.1_5'UTR|FBXL13_ENST00000455112.2_Silent_p.T237T|FBXL13_ENST00000379308.3_Silent_p.T237T|FBXL13_ENST00000379305.3_Silent_p.T237T|FBXL13_ENST00000393772.2_Silent_p.T237T|FBXL13_ENST00000379306.3_Silent_p.T237T|FBXL13_ENST00000436908.1_Silent_p.T237T|FBXL13_ENST00000456695.1_Silent_p.T237T	NM_145032.3	NP_659469.3	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	237										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						CAGATCTGAAAGTTTTGGGTC	0.328																																					p.T237T		Atlas-SNP	.											.	FBXL13	65	.	0			c.T711A						.						80.0	82.0	81.0					7																	102603993		2203	4300	6503	SO:0001819	synonymous_variant	222235	exon8			TCTGAAAGTTTTG	BC031285	CCDS5726.1, CCDS47678.1, CCDS75649.1	7q22.1	2014-07-18			ENSG00000161040	ENSG00000161040		"""F-boxes / Leucine-rich repeats"""	21658	protein-coding gene	gene with protein product		609080					Standard	NM_145032		Approved	MGC21636, Fbl13	uc003vaq.2	Q8NEE6	OTTHUMG00000157224	ENST00000313221.4:c.711T>A	chr7.hg19:g.102603993A>T		46.0	0.0		45.0	11.0	NM_001111038	C9J565|C9J566|Q6UVW7|Q6UVW8|Q75MN5|Q86UJ5|Q8N7Y4|Q8TCL2|Q8WUF9|Q8WUG0	Silent	SNP	ENST00000313221.4	hg19	CCDS5726.1																																																																																			.	.		0.328	FBXL13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348001.1	NM_145032	
LAMB1	3912	hgsc.bcm.edu	37	7	107635345	107635345	+	Missense_Mutation	SNP	A	A	C			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr7:107635345A>C	ENST00000222399.6	-	5	640	c.410T>G	c.(409-411)aTa>aGa	p.I137R	LAMB1_ENST00000393561.1_Missense_Mutation_p.I161R|LAMB1_ENST00000393560.1_Missense_Mutation_p.I137R	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	137	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						GAAAGTCATTATGAGATGAGT	0.343																																					p.I137R		Atlas-SNP	.											.	LAMB1	185	.	0			c.T410G						.						100.0	97.0	98.0					7																	107635345		2203	4300	6503	SO:0001583	missense	3912	exon5			GTCATTATGAGAT	M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"""Laminins"""	6486	protein-coding gene	gene with protein product		150240	"""cutis laxa with marfanoid phenotype"""	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.410T>G	chr7.hg19:g.107635345A>C	ENSP00000222399:p.Ile137Arg	49.0	0.0		43.0	23.0	NM_002291	Q14D91	Missense_Mutation	SNP	ENST00000222399.6	hg19	CCDS5750.1	.	.	.	.	.	.	.	.	.	.	A	25.8	4.678252	0.88542	.	.	ENSG00000091136	ENST00000393561;ENST00000222399;ENST00000393560	T;T;T	0.76968	-1.06;-1.06;-1.06	5.95	5.95	0.96441	Laminin, N-terminal (3);	.	.	.	.	D	0.86986	0.6065	M	0.67625	2.065	0.80722	D	1	D;D;D	0.76494	0.994;0.999;0.999	D;D;D	0.76071	0.963;0.987;0.957	D	0.88158	0.2855	9	0.87932	D	0	.	16.0971	0.81132	1.0:0.0:0.0:0.0	.	137;137;161	E7EPA6;P07942;G3XAI2	.;LAMB1_HUMAN;.	R	161;137;137	ENSP00000377191:I161R;ENSP00000222399:I137R;ENSP00000377190:I137R	ENSP00000222399:I137R	I	-	2	0	LAMB1	107422581	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.279000	0.76181	0.533000	0.62120	ATA	.	.		0.343	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291	
LMOD2	442721	hgsc.bcm.edu	37	7	123303032	123303032	+	Silent	SNP	A	A	G			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr7:123303032A>G	ENST00000458573.2	+	2	1549	c.1392A>G	c.(1390-1392)aaA>aaG	p.K464K	LMOD2_ENST00000456238.2_Intron	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	464						cytoskeleton (GO:0005856)											AAGTCATCAAACAACAGGAGA	0.448																																					p.K464K		Atlas-SNP	.											.	LMOD2	62	.	0			c.A1392G						.						36.0	33.0	34.0					7																	123303032		1802	4015	5817	SO:0001819	synonymous_variant	442721	exon2			CATCAAACAACAG	AC006333	CCDS47693.1	7q31.32	2008-08-08			ENSG00000170807	ENSG00000170807			6648	protein-coding gene	gene with protein product		608006					Standard	NM_207163		Approved		uc003vky.2	Q6P5Q4	OTTHUMG00000157149	ENST00000458573.2:c.1392A>G	chr7.hg19:g.123303032A>G		151.0	0.0		128.0	59.0	NM_207163	A4D0W9|A4D0Y2|Q8WVJ8	Silent	SNP	ENST00000458573.2	hg19	CCDS47693.1																																																																																			.	.		0.448	LMOD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348525.1		
CALU	813	hgsc.bcm.edu	37	7	128407568	128407568	+	Silent	SNP	A	A	T			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr7:128407568A>T	ENST00000249364.4	+	6	804	c.702A>T	c.(700-702)cgA>cgT	p.R234R	CALU_ENST00000479257.1_Silent_p.R242R|CALU_ENST00000542996.2_Silent_p.R242R|CALU_ENST00000538546.1_Silent_p.R83R|CALU_ENST00000535011.2_Intron|CALU_ENST00000449187.2_Silent_p.R234R|CALU_ENST00000535623.1_3'UTR	NM_001219.4	NP_001210.1	O43852	CALU_HUMAN	calumenin	234	EF-hand 5. {ECO:0000255|PROSITE- ProRule:PRU00448}.				blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)			kidney(2)|large_intestine(3)|lung(5)	10						AGACAGAGCGAGAGCAGTTTG	0.458																																					p.R242R		Atlas-SNP	.											.	CALU	42	.	0			c.A726T						.						192.0	181.0	185.0					7																	128407568		2203	4300	6503	SO:0001819	synonymous_variant	813	exon7			AGAGCGAGAGCAG	AF013759	CCDS5805.1, CCDS47703.1, CCDS56506.1, CCDS56507.1, CCDS56508.1	7q32	2013-01-10			ENSG00000128595	ENSG00000128595		"""EF-hand domain containing"""	1458	protein-coding gene	gene with protein product		603420				9598325	Standard	NM_001219		Approved		uc003vnq.3	O43852	OTTHUMG00000158274	ENST00000249364.4:c.702A>T	chr7.hg19:g.128407568A>T		179.0	0.0		115.0	52.0	NM_001199671	B3KPG9|D6QS48|D6QS49|D6QS50|D6QS51|D6QS52|D6QS53|D6QS54|D6QS55|D6QS56|D6QS57|D6QS58|D6QS59|F5H1Q9|F5H879|O60456|Q6FHB9|Q96RL3|Q9NR43	Silent	SNP	ENST00000249364.4	hg19	CCDS5805.1	.	.	.	.	.	.	.	.	.	.	A	11.43	1.635997	0.29068	.	.	ENSG00000128595	ENST00000537014;ENST00000493278	.	.	.	5.44	-1.8	0.07907	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.044	5.2574	0.15553	0.5276:0.0:0.3338:0.1386	.	.	.	.	X	167;66	.	ENSP00000417973:R66X	R	+	1	2	CALU	128194804	0.954000	0.32549	0.999000	0.59377	0.997000	0.91878	0.128000	0.15810	0.042000	0.15717	0.460000	0.39030	AGA	.	.		0.458	CALU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350533.1	NM_001219	
TNPO3	23534	hgsc.bcm.edu	37	7	128612495	128612495	+	Silent	SNP	T	T	A			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr7:128612495T>A	ENST00000265388.5	-	19	2558	c.2415A>T	c.(2413-2415)acA>acT	p.T805T	RN7SL306P_ENST00000492941.2_RNA|TNPO3_ENST00000471234.1_Silent_p.T741T|TNPO3_ENST00000393245.1_Silent_p.T839T|TNPO3_ENST00000471166.1_Silent_p.T839T|TNPO3_ENST00000482320.1_Silent_p.T739T			Q9Y5L0	TNPO3_HUMAN	transportin 3	805					splicing factor protein import into nucleus (GO:0035048)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						TGGCTACCCCTGTATGAATGA	0.433																																					p.T805T	Pancreas(147;583 2585 39696 52331)	Atlas-SNP	.											TNPO3_ENST00000393245,rectum,carcinoma,0,2	TNPO3	148	.	0			c.A2415T						.						97.0	91.0	93.0					7																	128612495		2203	4300	6503	SO:0001819	synonymous_variant	23534	exon19			TACCCCTGTATGA	AF145029	CCDS5809.1, CCDS55162.1	7q32.2	2014-02-03			ENSG00000064419	ENSG00000064419		"""Importins"""	17103	protein-coding gene	gene with protein product	"""importin 12"""	610032	"""limb girdle muscular dystrophy 1F (autosomal dominant)"""	LGMD1F		10366588, 10713112, 23543484, 23667635	Standard	NM_012470		Approved	TRN-SR, MTR10A, TRN-SR2, IPO12	uc003vol.2	Q9Y5L0	OTTHUMG00000158409	ENST00000265388.5:c.2415A>T	chr7.hg19:g.128612495T>A		62.0	0.0		49.0	19.0	NM_012470	A4D1K9|C9IZM0|Q6NUM1|Q96G71|Q96GU9|Q9Y3R2	Silent	SNP	ENST00000265388.5	hg19	CCDS5809.1																																																																																			.	.		0.433	TNPO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350929.1	NM_012470	
ADCK2	90956	hgsc.bcm.edu	37	7	140373721	140373721	+	Silent	SNP	C	C	T			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr7:140373721C>T	ENST00000072869.4	+	1	769	c.591C>T	c.(589-591)atC>atT	p.I197I	ADCK2_ENST00000476491.1_Silent_p.I197I	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	197						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					GGGGGAGCATCCTCTCTTTTG	0.592																																					p.I197I		Atlas-SNP	.											.	ADCK2	37	.	0			c.C591T						.						58.0	63.0	61.0					7																	140373721		2203	4300	6503	SO:0001819	synonymous_variant	90956	exon1			GAGCATCCTCTCT	AF131745	CCDS5861.1	7q34	2003-07-21			ENSG00000133597	ENSG00000133597			19039	protein-coding gene	gene with protein product							Standard	NM_052853		Approved	MGC20727	uc003vvy.1	Q7Z695	OTTHUMG00000157409	ENST00000072869.4:c.591C>T	chr7.hg19:g.140373721C>T		56.0	0.0		36.0	13.0	NM_052853	Q96CN6|Q9Y6T5	Silent	SNP	ENST00000072869.4	hg19	CCDS5861.1	.	.	.	.	.	.	.	.	.	.	C	5.504	0.278019	0.10403	.	.	ENSG00000133597	ENST00000483369	.	.	.	4.63	3.69	0.42338	.	.	.	.	.	T	0.57592	0.2064	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	T	0.52682	-0.8543	4	.	.	.	-15.8898	7.7262	0.28761	0.0:0.7473:0.1595:0.0932	.	.	.	.	S	35	.	.	P	+	1	0	ADCK2	140020190	0.998000	0.40836	0.180000	0.23079	0.363000	0.29612	0.920000	0.28705	0.859000	0.35456	-0.367000	0.07326	CCT	.	.		0.592	ADCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348734.1	NM_052853	
KEL	3792	hgsc.bcm.edu	37	7	142639612	142639612	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr7:142639612T>C	ENST00000355265.2	-	18	2420	c.1946A>G	c.(1945-1947)tAc>tGc	p.Y649C		NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	649					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					CCTCTTGCTGTATGCCTGGGT	0.587																																					p.Y649C		Atlas-SNP	.											.	KEL	128	.	0			c.A1946G						.						55.0	37.0	43.0					7																	142639612		2203	4298	6501	SO:0001583	missense	3792	exon18			TTGCTGTATGCCT	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"""CD molecules"", ""Blood group antigens"""	6308	protein-coding gene	gene with protein product		613883	"""Kell blood group"", ""Kell blood group, metalloendopeptidase"""			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.1946A>G	chr7.hg19:g.142639612T>C	ENSP00000347409:p.Tyr649Cys	54.0	0.0		45.0	27.0	NM_000420	B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	ENST00000355265.2	hg19	CCDS34766.1	.	.	.	.	.	.	.	.	.	.	T	12.96	2.095114	0.36952	.	.	ENSG00000197993	ENST00000355265	D	0.88277	-2.36	4.34	4.34	0.51931	Peptidase M13, neprilysin, C-terminal (1);	0.000000	0.43579	D	0.000555	D	0.95513	0.8542	H	0.95745	3.715	0.49915	D	0.999836	D	0.89917	1.0	D	0.97110	1.0	D	0.95757	0.8797	10	0.87932	D	0	-6.3936	9.8525	0.41066	0.0:0.0:0.0:1.0	.	649	P23276	KELL_HUMAN	C	649	ENSP00000347409:Y649C	ENSP00000347409:Y649C	Y	-	2	0	KEL	142349734	0.992000	0.36948	0.879000	0.34478	0.170000	0.22686	3.764000	0.55264	1.819000	0.53055	0.533000	0.62120	TAC	.	.		0.587	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420	
NPM2	10361	hgsc.bcm.edu	37	8	21891622	21891622	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr8:21891622G>T	ENST00000397940.1	+	6	1382	c.367G>T	c.(367-369)Gca>Tca	p.A123S	NPM2_ENST00000521157.1_Missense_Mutation_p.A123S|NPM2_ENST00000381530.5_Intron|NPM2_ENST00000518119.1_Missense_Mutation_p.A123S|NPM2_ENST00000520180.1_3'UTR|NPM2_ENST00000289820.6_Missense_Mutation_p.A123S|snoU13_ENST00000459495.1_RNA			Q86SE8	NPM2_HUMAN	nucleophosmin/nucleoplasmin 2	123					chromatin remodeling (GO:0006338)|embryo development (GO:0009790)|oocyte differentiation (GO:0009994)|positive regulation of catalytic activity (GO:0043085)|positive regulation of DNA replication (GO:0045740)|positive regulation of meiosis (GO:0045836)|protein homooligomerization (GO:0051260)|regulation of exit from mitosis (GO:0007096)|single fertilization (GO:0007338)	cytoplasmic chromatin (GO:0000789)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleic acid binding (GO:0003676)			large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4				Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618)		TATTACAGAAGCATCAGACCT	0.517																																					p.A123S		Atlas-SNP	.											.	NPM2	12	.	0			c.G367T						.						80.0	81.0	80.0					8																	21891622		2203	4300	6503	SO:0001583	missense	10361	exon6			ACAGAAGCATCAG	AY262113	CCDS6018.1, CCDS75703.1	8p21.3	2009-08-27	2009-08-27		ENSG00000158806	ENSG00000158806			7930	protein-coding gene	gene with protein product		608073				12714744	Standard	NM_182795		Approved		uc003xae.3	Q86SE8	OTTHUMG00000131129	ENST00000397940.1:c.367G>T	chr8.hg19:g.21891622G>T	ENSP00000381032:p.Ala123Ser	38.0	0.0		62.0	27.0	NM_182795	B3KSU0|D3DSQ8|Q6NVH6	Missense_Mutation	SNP	ENST00000397940.1	hg19	CCDS6018.1	.	.	.	.	.	.	.	.	.	.	G	2.746	-0.261090	0.05791	.	.	ENSG00000158806	ENST00000521157;ENST00000397940;ENST00000522813;ENST00000518119;ENST00000289820	T;T;T;T;T	0.41758	1.64;1.64;0.99;1.64;1.64	4.76	-2.33	0.06724	Nucleoplasmin core (2);	1.123880	0.06755	N	0.780735	T	0.17831	0.0428	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.16482	-1.0401	10	0.33940	T	0.23	1.8013	0.8021	0.01077	0.3751:0.1707:0.2891:0.1652	.	123	Q86SE8	NPM2_HUMAN	S	123	ENSP00000429413:A123S;ENSP00000381032:A123S;ENSP00000428016:A123S;ENSP00000427741:A123S;ENSP00000289820:A123S	ENSP00000289820:A123S	A	+	1	0	NPM2	21947568	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.542000	0.06091	-0.199000	0.10317	-1.271000	0.01417	GCA	.	.		0.517	NPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253810.2	NM_182795	
KLHL38	340359	hgsc.bcm.edu	37	8	124658143	124658143	+	Missense_Mutation	SNP	C	C	T	rs559948746		TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr8:124658143C>T	ENST00000325995.7	-	3	1605	c.1582G>A	c.(1582-1584)Ggg>Agg	p.G528R	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	528										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						AGCCGCCGCCCGCCCGTCACG	0.582													C|||	1	0.000199681	0.0	0.0	5008	,	,		18570	0.0		0.0	False		,,,				2504	0.001				p.G528R		Atlas-SNP	.											.	KLHL38	81	.	0			c.G1582A						.						96.0	112.0	106.0					8																	124658143		2098	4222	6320	SO:0001583	missense	340359	exon3			GCCGCCCGCCCGT		CCDS43766.1	8q24.13	2013-02-22	2013-02-22		ENSG00000175946	ENSG00000175946		"""Kelch-like"", ""BTB/POZ domain containing"""	34435	protein-coding gene	gene with protein product			"""kelch-like 38 (Drosophila)"""				Standard	NM_001081675		Approved	C8ORFK36	uc003yqs.1	Q2WGJ6	OTTHUMG00000164983	ENST00000325995.7:c.1582G>A	chr8.hg19:g.124658143C>T	ENSP00000321475:p.Gly528Arg	103.0	0.0		108.0	59.0	NM_001081675	A0PK12	Missense_Mutation	SNP	ENST00000325995.7	hg19	CCDS43766.1	.	.	.	.	.	.	.	.	.	.	C	32	5.107670	0.94292	.	.	ENSG00000175946	ENST00000325995	D	0.99494	-6.01	5.0	5.0	0.66597	Kelch-type beta propeller (1);	0.049697	0.85682	D	0.000000	D	0.99743	0.9898	H	0.97758	4.07	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97021	0.9743	10	0.87932	D	0	.	18.2916	0.90133	0.0:1.0:0.0:0.0	.	528	Q2WGJ6	KLH38_HUMAN	R	528	ENSP00000321475:G528R	ENSP00000321475:G528R	G	-	1	0	KLHL38	124727324	1.000000	0.71417	0.985000	0.45067	0.940000	0.58332	7.818000	0.86416	2.323000	0.78572	0.455000	0.32223	GGG	.	.		0.582	KLHL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381288.1		
ANXA13	312	hgsc.bcm.edu	37	8	124693593	124693593	+	Missense_Mutation	SNP	G	G	T	rs531775603		TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr8:124693593G>T	ENST00000419625.1	-	11	910	c.838C>A	c.(838-840)Ctt>Att	p.L280I	ANXA13_ENST00000262219.6_Missense_Mutation_p.L321I	NM_004306.2	NP_004297.2	P27216	ANX13_HUMAN	annexin A13	280					cell differentiation (GO:0030154)|negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|exocytic vesicle (GO:0070382)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylglycerol binding (GO:1901611)|phosphatidylserine binding (GO:0001786)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	25	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00288)			ATCCCCTGAAGGTCCACCTGT	0.443													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18868	0.0		0.0	False		,,,				2504	0.0				p.L321I		Atlas-SNP	.											.	ANXA13	38	.	0			c.C961A						.						144.0	153.0	150.0					8																	124693593		2203	4300	6503	SO:0001583	missense	312	exon12			CCTGAAGGTCCAC	Z11502	CCDS34939.1, CCDS47917.1	8q24.13	2005-11-09			ENSG00000104537	ENSG00000104537		"""Annexins"""	536	protein-coding gene	gene with protein product		602573		ANX13		9503022	Standard	NM_004306		Approved		uc003yqt.3	P27216	OTTHUMG00000164987	ENST00000419625.1:c.838C>A	chr8.hg19:g.124693593G>T	ENSP00000390809:p.Leu280Ile	56.0	0.0		49.0	7.0	NM_001003954	Q9BQR5	Missense_Mutation	SNP	ENST00000419625.1	hg19	CCDS47917.1	.	.	.	.	.	.	.	.	.	.	G	13.90	2.374909	0.42105	.	.	ENSG00000104537	ENST00000262219;ENST00000419625	T;T	0.05025	3.51;3.51	5.57	4.69	0.59074	Annexin repeat, conserved site (1);	0.186113	0.48767	D	0.000170	T	0.09335	0.0230	L	0.45698	1.435	0.46609	D	0.999125	P;P	0.52842	0.737;0.956	B;B	0.44108	0.36;0.441	T	0.03706	-1.1011	10	0.87932	D	0	.	13.7173	0.62705	0.0:0.1547:0.8453:0.0	.	280;321	P27216;P27216-2	ANX13_HUMAN;.	I	321;280	ENSP00000262219:L321I;ENSP00000390809:L280I	ENSP00000262219:L321I	L	-	1	0	ANXA13	124762774	1.000000	0.71417	0.998000	0.56505	0.044000	0.14063	4.711000	0.61881	1.347000	0.45714	0.655000	0.94253	CTT	.	.		0.443	ANXA13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381308.1	NM_004306	
FER1L6	654463	hgsc.bcm.edu	37	8	125072802	125072802	+	Missense_Mutation	SNP	G	G	T	rs373037712		TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr8:125072802G>T	ENST00000522917.1	+	24	3205	c.2999G>T	c.(2998-3000)gGa>gTa	p.G1000V	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6-AS2_ENST00000601180.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.G1000V	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1000						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CTCTTCTGGGGAGTTCGGGAA	0.567																																					p.G1000V		Atlas-SNP	.											.	FER1L6	268	.	0			c.G2999T						.	G	VAL/GLY	0,4406		0,0,2203	149.0	122.0	131.0		2999	5.7	1.0	8		131	1,8599	1.2+/-3.3	0,1,4299	no	missense	FER1L6	NM_001039112.2	109	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	probably-damaging	1000/1858	125072802	1,13005	2203	4300	6503	SO:0001583	missense	654463	exon24			TCTGGGGAGTTCG	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.2999G>T	chr8.hg19:g.125072802G>T	ENSP00000428280:p.Gly1000Val	81.0	0.0		91.0	13.0	NM_001039112		Missense_Mutation	SNP	ENST00000522917.1	hg19	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.541327	0.85917	0.0	1.16E-4	ENSG00000214814	ENST00000522917;ENST00000399018	D;D	0.85556	-2.0;-2.0	5.66	5.66	0.87406	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	U	0.000000	D	0.94328	0.8177	M	0.91872	3.25	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95032	0.8170	10	0.87932	D	0	-5.0631	19.329	0.94278	0.0:0.0:1.0:0.0	.	1000	Q2WGJ9	FR1L6_HUMAN	V	1000	ENSP00000428280:G1000V;ENSP00000381982:G1000V	ENSP00000381982:G1000V	G	+	2	0	FER1L6	125141983	1.000000	0.71417	0.997000	0.53966	0.714000	0.41099	7.910000	0.87451	2.661000	0.90470	0.655000	0.94253	GGA	.	.		0.567	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112	
HSF1	3297	hgsc.bcm.edu	37	8	145533158	145533158	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr8:145533158G>T	ENST00000528838.1	+	3	404	c.244G>T	c.(244-246)Gtc>Ttc	p.V82F	HSF1_ENST00000400780.4_Missense_Mutation_p.V17F	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	heat shock transcription factor 1	82					cellular response to heat (GO:0034605)|defense response (GO:0006952)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|female meiotic division (GO:0007143)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of spindle checkpoint (GO:0090231)|response to lipopolysaccharide (GO:0032496)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pronucleus (GO:0045120)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			CCGGAAAGTGGTCCACATCGA	0.627																																					p.V82F		Atlas-SNP	.											.	HSF1	29	.	0			c.G244T						.						99.0	102.0	101.0					8																	145533158		2203	4296	6499	SO:0001583	missense	3297	exon3			AAAGTGGTCCACA	M64673	CCDS6419.1	8q24.3	2014-04-10			ENSG00000185122	ENSG00000185122			5224	protein-coding gene	gene with protein product		140580				1871105	Standard	NM_005526		Approved	HSTF1	uc003zbt.4	Q00613	OTTHUMG00000174604	ENST00000528838.1:c.244G>T	chr8.hg19:g.145533158G>T	ENSP00000431512:p.Val82Phe	175.0	1.0		204.0	118.0	NM_005526	A8K4L0|A8MW26|Q53XT4	Missense_Mutation	SNP	ENST00000528838.1	hg19	CCDS6419.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.792432	0.90453	.	.	ENSG00000185122	ENST00000528838;ENST00000533240;ENST00000400780	D;D;D	0.90133	-2.62;-2.62;-2.62	5.48	4.61	0.57282	Winged helix-turn-helix transcription repressor DNA-binding (1);Heat shock factor (HSF)-type, DNA-binding (2);	0.000000	0.85682	D	0.000000	D	0.94703	0.8291	M	0.81497	2.545	0.80722	D	1	D	0.76494	0.999	D	0.71656	0.974	D	0.94968	0.8114	10	0.87932	D	0	-15.9657	12.3809	0.55305	0.0817:0.0:0.9183:0.0	.	82	Q00613	HSF1_HUMAN	F	82;17;17	ENSP00000431512:V82F;ENSP00000436616:V17F;ENSP00000383590:V17F	ENSP00000383590:V17F	V	+	1	0	HSF1	145503966	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.886000	0.63149	1.338000	0.45544	-0.124000	0.14976	GTC	.	.		0.627	HSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382053.1	NM_005526	
LRRC24	441381	hgsc.bcm.edu	37	8	145748008	145748008	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr8:145748008C>G	ENST00000529415.2	-	5	1510	c.1393G>C	c.(1393-1395)Gag>Cag	p.E465Q	LRRC14_ENST00000528528.1_3'UTR|LRRC14_ENST00000292524.1_3'UTR|LRRC24_ENST00000533758.1_Missense_Mutation_p.E462Q			Q50LG9	LRC24_HUMAN	leucine rich repeat containing 24	465						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(1)|lung(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TGGCCGCGCTCGTCGCGGAGC	0.697																																					p.E465Q		Atlas-SNP	.											.	LRRC24	11	.	0			c.G1393C						.						15.0	16.0	15.0					8																	145748008		2176	4282	6458	SO:0001583	missense	441381	exon5			CGCGCTCGTCGCG	AB178281	CCDS34969.1	8q24.3	2013-01-11			ENSG00000254402	ENSG00000254402		"""Immunoglobulin superfamily / I-set domain containing"""	28947	protein-coding gene	gene with protein product						7584026	Standard	NM_001024678		Approved	LRRC14OS	uc003zdm.3	Q50LG9	OTTHUMG00000165180	ENST00000529415.2:c.1393G>C	chr8.hg19:g.145748008C>G	ENSP00000434849:p.Glu465Gln	91.0	0.0		92.0	25.0	NM_001024678		Missense_Mutation	SNP	ENST00000529415.2	hg19	CCDS34969.1	.	.	.	.	.	.	.	.	.	.	C	35	5.446886	0.96205	.	.	ENSG00000254402	ENST00000529415;ENST00000533758	T;T	0.60548	0.3;0.18	4.92	4.92	0.64577	.	0.225721	0.44483	N	0.000460	T	0.62648	0.2445	L	0.29908	0.895	0.58432	D	0.999995	D;D	0.71674	0.998;0.997	P;P	0.61003	0.882;0.766	T	0.65747	-0.6093	10	0.62326	D	0.03	.	15.6382	0.76973	0.0:1.0:0.0:0.0	.	462;465	G3V1D8;Q50LG9	.;LRC24_HUMAN	Q	465;462	ENSP00000434849:E465Q;ENSP00000435653:E462Q	ENSP00000434849:E465Q	E	-	1	0	LRRC24	145718816	1.000000	0.71417	0.987000	0.45799	0.863000	0.49368	3.336000	0.52113	2.565000	0.86533	0.561000	0.74099	GAG	.	.		0.697	LRRC24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382501.2	NM_001024678	
FOCAD	54914	hgsc.bcm.edu	37	9	20944683	20944683	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr9:20944683A>T	ENST00000380249.1	+	31	3829	c.3465A>T	c.(3463-3465)caA>caT	p.Q1155H	FOCAD_ENST00000605086.1_Missense_Mutation_p.Q591H|FOCAD_ENST00000338382.6_Missense_Mutation_p.Q1155H	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	1155						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											ACAGCAGCCAAATGCAGTCCC	0.507																																					p.Q1155H		Atlas-SNP	.											.	.	.	.	0			c.A3465T						.						132.0	113.0	119.0					9																	20944683		2203	4300	6503	SO:0001583	missense	54914	exon31			CAGCCAAATGCAG	AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"""KIAA1797"""	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.3465A>T	chr9.hg19:g.20944683A>T	ENSP00000369599:p.Gln1155His	74.0	0.0		100.0	25.0	NM_017794	D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Missense_Mutation	SNP	ENST00000380249.1	hg19	CCDS34993.1	.	.	.	.	.	.	.	.	.	.	A	12.28	1.891690	0.33442	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	T;T	0.69435	-0.4;-0.4	5.87	-6.82	0.01698	Armadillo-type fold (1);	0.385440	0.32190	N	0.006445	T	0.40094	0.1103	L	0.40543	1.245	0.20196	N	0.999925	B	0.09022	0.002	B	0.06405	0.002	T	0.41787	-0.9489	10	0.11794	T	0.64	-21.7829	2.4296	0.04468	0.364:0.3053:0.2347:0.096	.	1155	Q5VW36	K1797_HUMAN	H	1155	ENSP00000369599:Q1155H;ENSP00000344307:Q1155H	ENSP00000344307:Q1155H	Q	+	3	2	KIAA1797	20934683	0.017000	0.18338	0.000000	0.03702	0.787000	0.44495	-0.243000	0.08915	-1.451000	0.01933	0.533000	0.62120	CAA	.	.		0.507	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1	NM_017794	
C9orf57	138240	hgsc.bcm.edu	37	9	74671740	74671740	+	Silent	SNP	T	T	A			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr9:74671740T>A	ENST00000377024.3	-	3	278	c.183A>T	c.(181-183)acA>acT	p.T61T	C9orf57_ENST00000424431.2_Silent_p.T27T	NM_001128618.1	NP_001122090.1	Q5W0N0	CI057_HUMAN	chromosome 9 open reading frame 57	61						integral component of membrane (GO:0016021)				endometrium(1)	1						GACCAGGTTTTGTCTGGCAGG	0.343																																					p.T61T		Atlas-SNP	.											.	C9orf57	16	.	0			c.A183T						.						78.0	66.0	69.0					9																	74671740		692	1591	2283	SO:0001819	synonymous_variant	138240	exon3			AGGTTTTGTCTGG	BC036255	CCDS47980.1	9q21.2	2012-03-15			ENSG00000204669	ENSG00000204669			27037	protein-coding gene	gene with protein product						12477932	Standard	NM_001128618		Approved		uc004aip.3	Q5W0N0	OTTHUMG00000020003	ENST00000377024.3:c.183A>T	chr9.hg19:g.74671740T>A		60.0	0.0		78.0	54.0	NM_001128618	A1L456	Silent	SNP	ENST00000377024.3	hg19	CCDS47980.1																																																																																			.	.		0.343	C9orf57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052631.1	NM_001128618	
PRUNE2	158471	hgsc.bcm.edu	37	9	79324389	79324389	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr9:79324389A>T	ENST00000376718.3	-	8	2924	c.2801T>A	c.(2800-2802)cTa>cAa	p.L934Q	PRUNE2_ENST00000428286.1_Missense_Mutation_p.L575Q	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	934					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CCAAGGAACTAGGACATCTGA	0.408																																					p.L934Q		Atlas-SNP	.											.	PRUNE2	331	.	0			c.T2801A						.						237.0	221.0	226.0					9																	79324389		1568	3582	5150	SO:0001583	missense	158471	exon8			GGAACTAGGACAT	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.2801T>A	chr9.hg19:g.79324389A>T	ENSP00000365908:p.Leu934Gln	94.0	0.0		98.0	63.0	NM_015225	B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	hg19	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	A	14.29	2.490692	0.44249	.	.	ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033	T;T	0.59083	0.31;0.29	5.89	3.25	0.37280	.	0.449885	0.16510	N	0.211288	T	0.58581	0.2132	L	0.29908	0.895	0.23314	N	0.997924	D	0.57899	0.981	P	0.57371	0.819	T	0.51036	-0.8756	10	0.87932	D	0	-3.5622	11.076	0.48032	0.855:0.0:0.145:0.0	.	934	Q8WUY3	PRUN2_HUMAN	Q	934;575;933	ENSP00000365908:L934Q;ENSP00000397425:L575Q	ENSP00000365908:L934Q	L	-	2	0	PRUNE2	78514209	0.127000	0.22367	0.709000	0.30452	0.834000	0.47266	1.768000	0.38511	1.061000	0.40601	0.459000	0.35465	CTA	.	.		0.408	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818	
SPATA31D1	389763	hgsc.bcm.edu	37	9	84606346	84606346	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr9:84606346T>A	ENST00000344803.2	+	4	1008	c.961T>A	c.(961-963)Ttg>Atg	p.L321M		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	321					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TCTCACCATCTTGAAGACTTT	0.478																																					p.L321M		Atlas-SNP	.											.	.	.	.	0			c.T961A						.						198.0	178.0	184.0					9																	84606346		1936	4124	6060	SO:0001583	missense	389763	exon4			ACCATCTTGAAGA		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.961T>A	chr9.hg19:g.84606346T>A	ENSP00000341988:p.Leu321Met	132.0	0.0		142.0	98.0	NM_001001670		Missense_Mutation	SNP	ENST00000344803.2	hg19	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	T	12.27	1.888117	0.33348	.	.	ENSG00000214929	ENST00000344803	T	0.09255	3.0	2.99	-2.87	0.05700	.	.	.	.	.	T	0.17704	0.0425	L	0.52573	1.65	0.09310	N	1	D	0.69078	0.997	D	0.64237	0.923	T	0.11036	-1.0604	9	0.49607	T	0.09	.	4.4836	0.11780	0.0:0.4578:0.2069:0.3353	.	321	Q6ZQQ2	F75D1_HUMAN	M	321	ENSP00000341988:L321M	ENSP00000341988:L321M	L	+	1	2	FAM75D1	83796166	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.729000	0.04920	-0.595000	0.05828	0.529000	0.55759	TTG	.	.		0.478	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670	
EPB41L4B	54566	hgsc.bcm.edu	37	9	111979288	111979288	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr9:111979288T>C	ENST00000374566.3	-	16	2064	c.1547A>G	c.(1546-1548)cAc>cGc	p.H516R		NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	516	His-rich.				actomyosin structure organization (GO:0031032)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)	structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTTTGAgtggtgctggtgctg	0.572																																					p.H516R		Atlas-SNP	.											.	EPB41L4B	111	.	0			c.A1547G						.						120.0	122.0	121.0					9																	111979288		2182	4280	6462	SO:0001583	missense	54566	exon16			GAGTGGTGCTGGT	AB032179	CCDS43859.1, CCDS43860.1	9q22.1-q22.3	2008-02-05			ENSG00000095203	ENSG00000095203			19818	protein-coding gene	gene with protein product		610340				10783258	Standard	NM_018424		Approved	EHM2	uc004bdz.1	Q9H329	OTTHUMG00000020470	ENST00000374566.3:c.1547A>G	chr9.hg19:g.111979288T>C	ENSP00000363694:p.His516Arg	86.0	0.0		105.0	27.0	NM_019114	Q5T4G5|Q5T4G6|Q9H328|Q9P2V3	Missense_Mutation	SNP	ENST00000374566.3	hg19	CCDS43859.1	.	.	.	.	.	.	.	.	.	.	T	8.639	0.895563	0.17686	.	.	ENSG00000095203	ENST00000262536;ENST00000374566	D	0.83837	-1.77	4.12	2.95	0.34219	.	0.182117	0.26991	N	0.021466	T	0.64316	0.2587	N	0.14661	0.345	0.80722	D	1	B	0.13145	0.007	B	0.08055	0.003	T	0.49312	-0.8953	10	0.15499	T	0.54	.	6.8643	0.24084	0.206:0.0:0.0:0.794	.	516	Q9H329	E41LB_HUMAN	R	201;516	ENSP00000363694:H516R	ENSP00000262536:H201R	H	-	2	0	EPB41L4B	111019109	1.000000	0.71417	0.998000	0.56505	0.744000	0.42396	3.135000	0.50546	0.466000	0.27193	-0.417000	0.06048	CAC	.	.		0.572	EPB41L4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053592.1	NM_018424	
MUSK	4593	hgsc.bcm.edu	37	9	113459680	113459681	+	Missense_Mutation	DNP	TA	TA	GT			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	T|A	T|A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr9:113459680_113459681TA>GT	ENST00000374448.4	+	5	696_697	c.562_563TA>GT	c.(562-564)TAt>GTt	p.Y188V	MUSK_ENST00000416899.2_Missense_Mutation_p.Y188V|MUSK_ENST00000189978.5_Missense_Mutation_p.Y188V|MUSK_ENST00000374439.1_Missense_Mutation_p.Y70V|MUSK_ENST00000374440.3_Missense_Mutation_p.Y70V	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	188	Ig-like 2.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|neuromuscular junction development (GO:0007528)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein geranylgeranylation (GO:2000541)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						TGCAGGACAGTATCGATGTGTG	0.47																																					p.Y188D|p.Y188F		Atlas-SNP	.											.	MUSK	112	.	0			c.T562G|c.A563T						.																																			SO:0001583	missense	4593	exon5			GGACAGTATCGAT|GACAGTATCGATG	AF006464	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			ENSG00000030304	ENSG00000030304		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7525	protein-coding gene	gene with protein product		601296				7546737	Standard	NM_005592		Approved		uc022blv.1	O15146	OTTHUMG00000020485	Exception_encountered	chr9.hg19:g.113459680_113459681delinsGT	ENSP00000363571:p.Tyr188Val	122.0|123.0	0.0		157.0|154.0	47.0|46.0	NM_001166281	Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Missense_Mutation	SNP	ENST00000374448.4	hg19	CCDS48005.1																																																																																			.	.		0.470	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			
LAMC3	10319	hgsc.bcm.edu	37	9	133936495	133936495	+	Silent	SNP	T	T	A			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr9:133936495T>A	ENST00000361069.4	+	13	2365	c.2232T>A	c.(2230-2232)ccT>ccA	p.P744P	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	744	Laminin EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00460}.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		ATGGCAACCCTTTCGCGGGCC	0.632																																					p.P744P		Atlas-SNP	.											.	LAMC3	167	.	0			c.T2232A						.						79.0	70.0	73.0					9																	133936495		2203	4300	6503	SO:0001819	synonymous_variant	10319	exon13			CAACCCTTTCGCG	AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"""Laminins"""	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.2232T>A	chr9.hg19:g.133936495T>A		34.0	0.0		43.0	33.0	NM_006059	B1APX9|B1APY0|Q59H72	Silent	SNP	ENST00000361069.4	hg19	CCDS6938.1																																																																																			.	.		0.632	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059	
KCNT1	57582	hgsc.bcm.edu	37	9	138662770	138662770	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr9:138662770C>G	ENST00000263604.3	+	18	1780	c.1780C>G	c.(1780-1782)Cgg>Ggg	p.R594G	KCNT1_ENST00000487664.1_Missense_Mutation_p.R568G|KCNT1_ENST00000298480.5_Missense_Mutation_p.R613G|KCNT1_ENST00000488444.2_Missense_Mutation_p.R594G|KCNT1_ENST00000371757.2_Missense_Mutation_p.R613G|KCNT1_ENST00000486577.2_Missense_Mutation_p.R574G|KCNT1_ENST00000490355.2_Missense_Mutation_p.R594G|KCNT1_ENST00000491806.2_Missense_Mutation_p.R580G			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	594	RCK N-terminal.				potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CCCGGGGCCCCGGCACATCCT	0.602																																					p.R613G		Atlas-SNP	.											.	KCNT1	139	.	0			c.C1837G						.						47.0	42.0	44.0					9																	138662770		2202	4300	6502	SO:0001583	missense	57582	exon18			GGGCCCCGGCACA	AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.1780C>G	chr9.hg19:g.138662770C>G	ENSP00000263604:p.Arg594Gly	142.0	0.0		165.0	61.0	NM_020822	B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Missense_Mutation	SNP	ENST00000263604.3	hg19		.	.	.	.	.	.	.	.	.	.	C	12.42	1.931698	0.34096	.	.	ENSG00000107147	ENST00000487664;ENST00000298480;ENST00000371757;ENST00000486577;ENST00000491806;ENST00000488444;ENST00000490355;ENST00000263604	T;T;T;T	0.24908	1.85;1.84;1.84;1.83	3.88	2.95	0.34219	.	0.000000	0.64402	U	0.000002	T	0.20414	0.0491	L	0.41236	1.265	0.58432	D	0.999997	B;B;B;B	0.21821	0.061;0.005;0.003;0.007	B;B;B;B	0.17979	0.02;0.018;0.019;0.008	T	0.04427	-1.0952	10	0.44086	T	0.13	-18.4168	10.7263	0.46070	0.3457:0.6543:0.0:0.0	.	580;613;568;594	C9JYL2;B9EGP2;G5E9V0;Q5JUK3	.;.;.;KCNT1_HUMAN	G	568;613;613;574;580;594;594;594	ENSP00000417851:R568G;ENSP00000298480:R613G;ENSP00000360822:R613G;ENSP00000263604:R594G	ENSP00000263604:R594G	R	+	1	2	KCNT1	137802591	0.371000	0.25056	0.695000	0.30226	0.966000	0.64601	0.987000	0.29603	0.794000	0.33899	0.467000	0.42956	CGG	.	.		0.602	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_020822	
CCDC3	83643	hgsc.bcm.edu	37	10	13040480	13040480	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr10:13040480C>A	ENST00000378825.3	-	2	533	c.407G>T	c.(406-408)gGa>gTa	p.G136V	CCDC3_ENST00000378839.1_Missense_Mutation_p.G11V	NM_031455.3	NP_113643.1	Q9BQI4	CCDC3_HUMAN	coiled-coil domain containing 3	136						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	11		Ovarian(717;0.0822)	BRCA - Breast invasive adenocarcinoma(52;0.163)			GAAATTGACTCCGTGAGGCAA	0.453																																					p.G136V		Atlas-SNP	.											.	CCDC3	27	.	0			c.G407T						.						119.0	108.0	111.0					10																	13040480		2203	4300	6503	SO:0001583	missense	83643	exon2			TTGACTCCGTGAG	BC051334	CCDS7093.1, CCDS60484.1	10p14	2004-02-13			ENSG00000151468	ENSG00000151468			23813	protein-coding gene	gene with protein product							Standard	NM_031455		Approved	DKFZp761F241	uc001ilq.1	Q9BQI4	OTTHUMG00000017689	ENST00000378825.3:c.407G>T	chr10.hg19:g.13040480C>A	ENSP00000368102:p.Gly136Val	70.0	0.0		96.0	23.0	NM_031455	Q5VYV8|Q5VYV9	Missense_Mutation	SNP	ENST00000378825.3	hg19	CCDS7093.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.407966	0.83340	.	.	ENSG00000151468	ENST00000378839;ENST00000378825	.	.	.	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.79656	0.4483	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82004	-0.0672	9	0.72032	D	0.01	-22.1565	17.7904	0.88551	0.0:1.0:0.0:0.0	.	136	Q9BQI4	CCDC3_HUMAN	V	11;136	.	ENSP00000368102:G136V	G	-	2	0	CCDC3	13080486	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.426000	0.80270	2.433000	0.82419	0.462000	0.41574	GGA	.	.		0.453	CCDC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046829.1	NM_031455	
FAM188A	80013	hgsc.bcm.edu	37	10	15863696	15863696	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr10:15863696C>G	ENST00000277632.3	-	9	980	c.760G>C	c.(760-762)Gta>Cta	p.V254L	FAM188A_ENST00000477891.1_5'UTR	NM_024948.2	NP_079224.1	Q9H8M7	F188A_HUMAN	family with sequence similarity 188, member A	254					apoptotic process (GO:0006915)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	22						AAAAATCCTACTGCTGCTTGT	0.303																																					p.V254L	Pancreas(159;946 1953 2111 4475 22008)	Atlas-SNP	.											.	FAM188A	44	.	0			c.G760C						.						102.0	96.0	98.0					10																	15863696		2202	4300	6502	SO:0001583	missense	80013	exon9			ATCCTACTGCTGC	AK023459	CCDS7110.1	10p13	2009-07-14	2009-07-14	2009-07-14	ENSG00000148481	ENSG00000148481			23578	protein-coding gene	gene with protein product	"""caspase recruitment domain containing pro-apoptotic protein"", ""CARD-containing protein"""	611649	"""chromosome 10 open reading frame 97"""	C10orf97		12054670, 17652099	Standard	XM_005252600		Approved	FLJ13397, CARP, my042, DERP5	uc001iod.1	Q9H8M7	OTTHUMG00000017734	ENST00000277632.3:c.760G>C	chr10.hg19:g.15863696C>G	ENSP00000277632:p.Val254Leu	79.0	0.0		126.0	71.0	NM_024948	Q5SZ68|Q5SZ69|Q5SZ70|Q6IA40|Q6P7P0|Q7Z2S1|Q8WUF1|Q9H3I4	Missense_Mutation	SNP	ENST00000277632.3	hg19	CCDS7110.1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.053020	0.55218	.	.	ENSG00000148481	ENST00000277632;ENST00000418767;ENST00000436829	T;T;T	0.34667	1.35;1.35;1.35	5.26	4.34	0.51931	.	0.115270	0.64402	D	0.000019	T	0.38268	0.1034	L	0.61218	1.895	0.80722	D	1	B	0.20780	0.048	B	0.27170	0.077	T	0.26258	-1.0108	10	0.42905	T	0.14	-16.4026	13.7485	0.62890	0.0:0.919:0.0:0.081	.	254	Q9H8M7	F188A_HUMAN	L	254;94;107	ENSP00000277632:V254L;ENSP00000388661:V94L;ENSP00000389883:V107L	ENSP00000277632:V254L	V	-	1	0	FAM188A	15903702	1.000000	0.71417	0.997000	0.53966	0.970000	0.65996	3.282000	0.51693	2.613000	0.88420	0.467000	0.42956	GTA	.	.		0.303	FAM188A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046990.2	NM_024948	
HNRNPF	3185	hgsc.bcm.edu	37	10	43883327	43883327	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr10:43883327C>A	ENST00000544000.1	-	4	413	c.6G>T	c.(4-6)atG>atT	p.M2I	HNRNPF_ENST00000443950.2_Missense_Mutation_p.M2I|HNRNPF_ENST00000357065.4_Missense_Mutation_p.M2I|HNRNPF_ENST00000356053.3_Missense_Mutation_p.M2I|HNRNPF_ENST00000498176.1_5'UTR|HNRNPF_ENST00000337970.3_Missense_Mutation_p.M2I	NM_001098207.1	NP_001091677.1	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	2					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						CAGGGCCCAGCATCATGGACA	0.498																																					p.M2I		Atlas-SNP	.											.	HNRNPF	57	.	0			c.G6T						.						42.0	45.0	44.0					10																	43883327		2198	4300	6498	SO:0001583	missense	3185	exon4			GCCCAGCATCATG		CCDS7204.1	10q11.21	2013-02-12		2008-04-18	ENSG00000169813	ENSG00000169813		"""RNA binding motif (RRM) containing"""	5039	protein-coding gene	gene with protein product		601037		HNRPF		7499401	Standard	NM_001098208		Approved		uc001jas.2	P52597	OTTHUMG00000018029	ENST00000544000.1:c.6G>T	chr10.hg19:g.43883327C>A	ENSP00000438061:p.Met2Ile	85.0	0.0		75.0	43.0	NM_001098204	B3KM84|Q5T0N2|Q96AU2	Missense_Mutation	SNP	ENST00000544000.1	hg19	CCDS7204.1	.	.	.	.	.	.	.	.	.	.	C	16.07	3.017369	0.54576	.	.	ENSG00000169813	ENST00000544000;ENST00000443950;ENST00000356053;ENST00000357065;ENST00000337970	T;T;T;T;T	0.08896	3.04;3.04;3.04;3.04;3.04	4.17	4.17	0.49024	.	0.076578	0.56097	D	0.000033	T	0.20659	0.0497	L	0.34521	1.04	0.48762	D	0.999702	P	0.38800	0.648	D	0.66084	0.941	T	0.01405	-1.1363	10	0.87932	D	0	-29.7191	14.7967	0.69884	0.0:1.0:0.0:0.0	.	2	P52597	HNRPF_HUMAN	I	2	ENSP00000438061:M2I;ENSP00000400433:M2I;ENSP00000348345:M2I;ENSP00000349573:M2I;ENSP00000338477:M2I	ENSP00000338477:M2I	M	-	3	0	HNRNPF	43203333	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	4.661000	0.61518	2.615000	0.88500	0.650000	0.86243	ATG	.	.		0.498	HNRNPF-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047705.2		
DLG5	9231	hgsc.bcm.edu	37	10	79553847	79553847	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr10:79553847C>T	ENST00000372391.2	-	31	5580	c.5575G>A	c.(5575-5577)Gac>Aac	p.D1859N	RP13-39P12.3_ENST00000434097.2_RNA|RP13-39P12.3_ENST00000601701.1_RNA|DLG5_ENST00000372388.2_Missense_Mutation_p.D1519N|DLG5_ENST00000459739.1_5'UTR	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1859	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			GTCACCTTGTCCCTCAGGTAG	0.597																																					p.D1859N		Atlas-SNP	.											.	DLG5	154	.	0			c.G5575A						.						237.0	193.0	208.0					10																	79553847		2203	4300	6503	SO:0001583	missense	9231	exon31			CCTTGTCCCTCAG	U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"""discs, large (Drosophila) homolog 5"""			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.5575G>A	chr10.hg19:g.79553847C>T	ENSP00000361467:p.Asp1859Asn	45.0	0.0		70.0	47.0	NM_004747	A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Missense_Mutation	SNP	ENST00000372391.2	hg19	CCDS7353.2	.	.	.	.	.	.	.	.	.	.	C	36	5.910178	0.97093	.	.	ENSG00000151208	ENST00000372391;ENST00000424842;ENST00000372388	T;T;T	0.38887	1.11;1.11;1.11	5.86	5.86	0.93980	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.000000	0.41396	D	0.000889	T	0.61135	0.2323	M	0.68317	2.08	0.58432	D	0.999999	P;P	0.50443	0.935;0.916	P;P	0.56700	0.804;0.76	T	0.61148	-0.7121	10	0.66056	D	0.02	.	20.1865	0.98220	0.0:1.0:0.0:0.0	.	1859;1519	Q8TDM6;Q8TDM6-2	DLG5_HUMAN;.	N	1859;820;1519	ENSP00000361467:D1859N;ENSP00000394797:D820N;ENSP00000361464:D1519N	ENSP00000361464:D1519N	D	-	1	0	DLG5	79223853	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.261000	0.78400	2.775000	0.95449	0.655000	0.94253	GAC	.	.		0.597	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2		
C10orf99	387695	hgsc.bcm.edu	37	10	85933619	85933619	+	Silent	SNP	A	A	T			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr10:85933619A>T	ENST00000372126.3	+	1	126	c.12A>T	c.(10-12)ctA>ctT	p.L4L		NM_207373.2	NP_997256.1	Q6UWK7	CJ099_HUMAN	chromosome 10 open reading frame 99	4						extracellular region (GO:0005576)				endometrium(1)|lung(1)|pancreas(1)|prostate(1)	4						TGAGGCTTCTAGTCCTTTCCA	0.537																																					p.L4L		Atlas-SNP	.											.	C10orf99	8	.	0			c.A12T						.						253.0	194.0	214.0					10																	85933619		2203	4300	6503	SO:0001819	synonymous_variant	387695	exon1			GCTTCTAGTCCTT	AY358751	CCDS7371.1	10q23.2	2014-04-16			ENSG00000188373	ENSG00000188373			31428	protein-coding gene	gene with protein product						12975309	Standard	NM_207373		Approved	UNQ1833, RLLV1833, FLJ21763	uc001kcu.3	Q6UWK7	OTTHUMG00000018635	ENST00000372126.3:c.12A>T	chr10.hg19:g.85933619A>T		56.0	0.0		76.0	18.0	NM_207373		Silent	SNP	ENST00000372126.3	hg19	CCDS7371.1																																																																																			.	.		0.537	C10orf99-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049114.1	NM_207373	
CFAP46	54777	hgsc.bcm.edu	37	10	134693042	134693042	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr10:134693042A>T	ENST00000368586.5	-	29	3993	c.3893T>A	c.(3892-3894)cTg>cAg	p.L1298Q	TTC40_ENST00000368582.2_Missense_Mutation_p.L1298Q	NM_001200049.2	NP_001186978.2														breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						CAGCGCCTCCAGCTGCCGCAC	0.697																																					p.L1298Q		Atlas-SNP	.											.	TTC40	100	.	0			c.T3893A						.																																			SO:0001583	missense	54777	exon29			GCCTCCAGCTGCC																												ENST00000368586.5:c.3893T>A	chr10.hg19:g.134693042A>T	ENSP00000357575:p.Leu1298Gln	158.0	0.0		130.0	70.0	NM_001200049		Missense_Mutation	SNP	ENST00000368586.5	hg19	CCDS58101.1	.	.	.	.	.	.	.	.	.	.	A	19.17	3.776397	0.70107	.	.	ENSG00000171811	ENST00000368586;ENST00000368582	T;T	0.64618	1.87;-0.11	3.85	3.85	0.44370	.	.	.	.	.	T	0.65037	0.2653	.	.	.	0.24615	N	0.9937	.	.	.	.	.	.	T	0.59456	-0.7451	6	0.87932	D	0	.	10.4539	0.44539	1.0:0.0:0.0:0.0	.	.	.	.	Q	1298	ENSP00000357575:L1298Q;ENSP00000357571:L1298Q	ENSP00000357571:L1298Q	L	-	2	0	C10orf93	134543032	1.000000	0.71417	0.849000	0.33467	0.860000	0.49131	4.884000	0.63135	1.505000	0.48720	0.379000	0.24179	CTG	.	.		0.697	TTC40-001	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051095.3		
KNDC1	85442	hgsc.bcm.edu	37	10	135020434	135020434	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr10:135020434A>T	ENST00000304613.3	+	19	3577	c.3556A>T	c.(3556-3558)Agc>Tgc	p.S1186C	KNDC1_ENST00000368571.2_Missense_Mutation_p.S1121C|KNDC1_ENST00000368572.2_Missense_Mutation_p.S1188C			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1186					cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GCAATTCCTCAGCTTGGTCAA	0.577																																					p.S1186C		Atlas-SNP	.											.	KNDC1	155	.	0			c.A3556T						.						90.0	94.0	93.0					10																	135020434		2203	4300	6503	SO:0001583	missense	85442	exon19			TTCCTCAGCTTGG	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"""RasGEF domain family, member 2"""	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.3556A>T	chr10.hg19:g.135020434A>T	ENSP00000304437:p.Ser1186Cys	159.0	0.0		161.0	82.0	NM_152643	B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	ENST00000304613.3	hg19	CCDS7674.1	.	.	.	.	.	.	.	.	.	.	A	13.11	2.140609	0.37825	.	.	ENSG00000171798	ENST00000304613;ENST00000368572;ENST00000368571	T;T;T	0.18960	2.68;2.68;2.18	4.45	-0.254	0.12992	.	0.673655	0.13573	U	0.377902	T	0.15869	0.0382	N	0.22421	0.69	0.24037	N	0.99609	D;D	0.59357	0.979;0.985	P;B	0.46452	0.517;0.408	T	0.16305	-1.0407	10	0.66056	D	0.02	-15.3245	8.6044	0.33764	0.3388:0.0:0.6612:0.0	.	1121;1186	Q76NI1-2;Q76NI1	.;VKIND_HUMAN	C	1186;1188;1121	ENSP00000304437:S1186C;ENSP00000357561:S1188C;ENSP00000357560:S1121C	ENSP00000304437:S1186C	S	+	1	0	KNDC1	134870424	0.959000	0.32827	0.622000	0.29159	0.798000	0.45092	1.035000	0.30216	-0.294000	0.08973	-0.417000	0.06048	AGC	.	.		0.577	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643	
OR51G2	81282	hgsc.bcm.edu	37	11	4936771	4936771	+	Silent	SNP	C	C	A			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr11:4936771C>A	ENST00000322013.3	-	1	151	c.123G>T	c.(121-123)ctG>ctT	p.L41L	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	41						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGATGGAAACCAGATACATGA	0.502																																					p.L41L		Atlas-SNP	.											.	OR51G2	70	.	0			c.G123T						.						90.0	84.0	86.0					11																	4936771		2201	4298	6499	SO:0001819	synonymous_variant	81282	exon1			GGAAACCAGATAC	AB065794	CCDS31365.1	11p15.4	2012-08-09			ENSG00000176893	ENSG00000176893		"""GPCR / Class A : Olfactory receptors"""	15198	protein-coding gene	gene with protein product							Standard	NM_001005238		Approved		uc001lzr.1	Q8NGK0	OTTHUMG00000066501	ENST00000322013.3:c.123G>T	chr11.hg19:g.4936771C>A		106.0	0.0		109.0	68.0	NM_001005238	Q6IFH7	Silent	SNP	ENST00000322013.3	hg19	CCDS31365.1																																																																																			.	.		0.502	OR51G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142174.1	NM_001005238	
OR51A2	401667	hgsc.bcm.edu	37	11	4976935	4976935	+	Silent	SNP	A	A	T	rs148063081	byFrequency	TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr11:4976935A>T	ENST00000380371.1	-	1	8	c.9T>A	c.(7-9)atT>atA	p.I3I	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004748.1	NP_001004748.1	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A, member 2	3						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGTGTTGATAATGGACATGA	0.428																																					p.I3I		Atlas-SNP	.											.	OR51A2	40	.	0			c.T9A						.						48.0	48.0	48.0					11																	4976935		2161	4276	6437	SO:0001819	synonymous_variant	401667	exon1			GTTGATAATGGAC	AB065797	CCDS31368.1	11p15.4	2012-08-09			ENSG00000205496	ENSG00000205496		"""GPCR / Class A : Olfactory receptors"""	14764	protein-coding gene	gene with protein product							Standard	NM_001004748		Approved		uc010qyt.2	Q8NGJ7	OTTHUMG00000066602	ENST00000380371.1:c.9T>A	chr11.hg19:g.4976935A>T		245.0	0.0		304.0	77.0	NM_001004748		Silent	SNP	ENST00000380371.1	hg19	CCDS31368.1																																																																																			.	.		0.428	OR51A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142809.1	NM_001004748	
OR10A5	144124	hgsc.bcm.edu	37	11	6866988	6866988	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr11:6866988G>C	ENST00000299454.4	+	1	106	c.75G>C	c.(73-75)caG>caC	p.Q25H	OR10A5_ENST00000379831.2_Missense_Mutation_p.Q29H			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	25					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CTGAAATACAGTCATTGCTCT	0.428																																					p.Q25H	Pancreas(44;21 1072 25662 28041 45559)	Atlas-SNP	.											.	OR10A5	48	.	0			c.G75C						.						202.0	206.0	205.0					11																	6866988		2201	4296	6497	SO:0001583	missense	144124	exon1			AATACAGTCATTG	AF324499	CCDS7773.1	11p15.4	2012-08-09			ENSG00000166363	ENSG00000166363		"""GPCR / Class A : Olfactory receptors"""	15131	protein-coding gene	gene with protein product		608493		OR10A1			Standard	NM_178168		Approved	OR11-403, JCG6	uc001met.1	Q9H207	OTTHUMG00000165738	ENST00000299454.4:c.75G>C	chr11.hg19:g.6866988G>C	ENSP00000299454:p.Gln25His	105.0	0.0		133.0	8.0	NM_178168	O95223|Q52M66|Q96R21|Q96R22	Missense_Mutation	SNP	ENST00000299454.4	hg19	CCDS7773.1	.	.	.	.	.	.	.	.	.	.	.	14.89	2.671689	0.47781	.	.	ENSG00000166363	ENST00000299454;ENST00000379831	T;T	0.00601	6.29;6.29	3.46	2.55	0.30701	.	0.000000	0.48767	D	0.000173	T	0.01489	0.0048	M	0.77486	2.375	0.30078	N	0.809437	P	0.52463	0.953	P	0.55577	0.779	T	0.17501	-1.0367	10	0.59425	D	0.04	.	5.578	0.17235	0.2471:0.0:0.7529:0.0	.	25	Q9H207	O10A5_HUMAN	H	25;29	ENSP00000299454:Q25H;ENSP00000369159:Q29H	ENSP00000299454:Q25H	Q	+	3	2	OR10A5	6823564	0.095000	0.21747	0.709000	0.30452	0.920000	0.55202	0.783000	0.26802	1.028000	0.39785	0.591000	0.81541	CAG	.	.		0.428	OR10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385983.1	NM_178168	
ABCC8	6833	hgsc.bcm.edu	37	11	17464328	17464328	+	Silent	SNP	C	C	T			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr11:17464328C>T	ENST00000389817.3	-	10	1637	c.1569G>A	c.(1567-1569)gaG>gaA	p.E523E	ABCC8_ENST00000302539.4_Silent_p.E523E|ABCC8_ENST00000528202.1_5'UTR			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	523	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	TGCGGGTCGTCTCCACCCGCG	0.597																																					p.E523E		Atlas-SNP	.											.	ABCC8	170	.	0			c.G1569A						.						100.0	88.0	92.0					11																	17464328		2200	4293	6493	SO:0001819	synonymous_variant	6833	exon10			GGTCGTCTCCACC	L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.1569G>A	chr11.hg19:g.17464328C>T		50.0	0.0		77.0	19.0	NM_000352	A6NMX8|E3UYX6|O75948|Q16583	Silent	SNP	ENST00000389817.3	hg19	CCDS31437.1																																																																																			.	.		0.597	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352	
OR5R1	219479	hgsc.bcm.edu	37	11	56184984	56184984	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr11:56184984C>G	ENST00000312253.1	-	1	724	c.725G>C	c.(724-726)gGc>gCc	p.G242A		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	242						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					CATATGGGAGCCACAGGTGGA	0.458																																					p.G242A		Atlas-SNP	.											OR5R1,colon,carcinoma,0,1	OR5R1	83	.	0			c.G725C						.						153.0	143.0	147.0					11																	56184984		2201	4296	6497	SO:0001583	missense	219479	exon1			TGGGAGCCACAGG	AB065504	CCDS31530.1	11q11	2012-08-09		2004-03-10	ENSG00000174942	ENSG00000174942		"""GPCR / Class A : Olfactory receptors"""	14841	protein-coding gene	gene with protein product				OR5R1P			Standard	NM_001004744		Approved		uc010rji.2	Q8NH85	OTTHUMG00000154219	ENST00000312253.1:c.725G>C	chr11.hg19:g.56184984C>G	ENSP00000308595:p.Gly242Ala	121.0	0.0		144.0	32.0	NM_001004744		Missense_Mutation	SNP	ENST00000312253.1	hg19	CCDS31530.1	.	.	.	.	.	.	.	.	.	.	C	0.611	-0.825245	0.02755	.	.	ENSG00000174942	ENST00000312253	T	0.33654	1.4	5.62	3.61	0.41365	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33419	U	0.004934	T	0.18383	0.0441	N	0.04994	-0.135	0.09310	N	1	B	0.28082	0.2	B	0.37144	0.242	T	0.32025	-0.9922	10	0.02654	T	1	-10.9135	11.2781	0.49178	0.1218:0.5384:0.3398:0.0	.	242	Q8NH85	OR5R1_HUMAN	A	242	ENSP00000308595:G242A	ENSP00000308595:G242A	G	-	2	0	OR5R1	55941560	0.000000	0.05858	0.449000	0.26957	0.032000	0.12392	0.489000	0.22387	1.342000	0.45619	0.643000	0.83706	GGC	.	.		0.458	OR5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334444.1	NM_001004744	
TMEM132A	54972	hgsc.bcm.edu	37	11	60703650	60703650	+	Silent	SNP	T	T	A			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr11:60703650T>A	ENST00000453848.2	+	11	2501	c.2343T>A	c.(2341-2343)gcT>gcA	p.A781A	TMEM132A_ENST00000005286.4_Silent_p.A782A			Q24JP5	T132A_HUMAN	transmembrane protein 132A	781	Binds to HSPA5/GRP78. {ECO:0000250}.|Confers cellular localization similar to full-length form. {ECO:0000250}.					endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CCAGCCCTGCTTGGAGCCCAC	0.701																																					p.A782A		Atlas-SNP	.											.	TMEM132A	135	.	0			c.T2346A						.						23.0	27.0	25.0					11																	60703650		2203	4294	6497	SO:0001819	synonymous_variant	54972	exon11			CCCTGCTTGGAGC	AK000546	CCDS7997.1, CCDS44618.1	11q12.2	2006-03-02	2006-03-02	2006-03-02	ENSG00000006118	ENSG00000006118			31092	protein-coding gene	gene with protein product			"""heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1"""	HSPA5BP1		12514190, 10997877	Standard	NM_017870		Approved	GBP, FLJ20539	uc001nqi.3	Q24JP5	OTTHUMG00000167803	ENST00000453848.2:c.2343T>A	chr11.hg19:g.60703650T>A		77.0	0.0		61.0	32.0	NM_017870	Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0	Silent	SNP	ENST00000453848.2	hg19	CCDS44618.1																																																																																			.	.		0.701	TMEM132A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396352.1	NM_017870	
LGALS12	85329	hgsc.bcm.edu	37	11	63283717	63283717	+	Splice_Site	SNP	A	A	T			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr11:63283717A>T	ENST00000394618.3	+	9	1155		c.e9-1		LGALS12_ENST00000425950.2_Splice_Site|LGALS12_ENST00000340246.5_Splice_Site|LGALS12_ENST00000415491.2_Splice_Site|LGALS12_ENST00000255684.5_Splice_Site	NM_001142535.1|NM_033101.3	NP_001136007.1|NP_149092.2	Q96DT0	LEG12_HUMAN	lectin, galactoside-binding, soluble, 12						intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	16						CTCCTTTCCCAGGTGCTGCTC	0.632																																					.		Atlas-SNP	.											.	LGALS12	35	.	0			c.838-2A>T						.						47.0	46.0	46.0					11																	63283717		2201	4298	6499	SO:0001630	splice_region_variant	85329	exon8			TTTCCCAGGTGCT	AF222695	CCDS8045.1, CCDS44633.1, CCDS44634.1, CCDS44635.1, CCDS53648.1	11q13	2011-08-04	2008-07-25		ENSG00000133317	ENSG00000133317		"""Lectins, galactoside-binding"""	15788	protein-coding gene	gene with protein product	"""galectin 12"""	606096				11283015, 11435439	Standard	NM_033101		Approved	GRIP1	uc001nxc.2	Q96DT0	OTTHUMG00000167807	ENST00000394618.3:c.865-1A>T	chr11.hg19:g.63283717A>T		27.0	0.0		26.0	7.0	NM_001142536	B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Splice_Site	SNP	ENST00000394618.3	hg19	CCDS8045.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.988595	0.74589	.	.	ENSG00000133317	ENST00000255684;ENST00000394618;ENST00000340246;ENST00000415491;ENST00000425950	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.5857	0.56416	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LGALS12	63040293	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.851000	0.62896	2.288000	0.76882	0.533000	0.62120	.	.	.		0.632	LGALS12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396378.1	NM_033101	Intron
DYNC2H1	79659	hgsc.bcm.edu	37	11	103339360	103339360	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr11:103339360A>T	ENST00000375735.2	+	88	12836	c.12692A>T	c.(12691-12693)cAa>cTa	p.Q4231L	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.Q4238L|DYNC2H1_ENST00000334267.7_Missense_Mutation_p.Q844L	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	4231					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GATGGAAATCAACTTTCTGAA	0.388																																					p.Q4238L		Atlas-SNP	.											.	DYNC2H1	246	.	0			c.A12713T						.						158.0	149.0	152.0					11																	103339360		1922	4144	6066	SO:0001583	missense	79659	exon89			GAAATCAACTTTC	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.12692A>T	chr11.hg19:g.103339360A>T	ENSP00000364887:p.Gln4231Leu	86.0	0.0		104.0	67.0	NM_001080463	O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	hg19	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	A	11.43	1.635361	0.29068	.	.	ENSG00000187240	ENST00000375735;ENST00000334267;ENST00000398093;ENST00000540621;ENST00000533197	T;T;T;T	0.08370	3.1;3.1;3.1;3.1	5.69	1.6	0.23607	Dynein heavy chain (1);	0.565185	0.18135	N	0.150609	T	0.05456	0.0144	N	0.11560	0.145	0.28065	N	0.932818	B;B;B	0.22683	0.073;0.0;0.0	B;B;B	0.30029	0.11;0.004;0.003	T	0.30794	-0.9966	10	0.72032	D	0.01	.	9.671	0.40013	0.2804:0.0:0.7196:0.0	.	844;4231;4238	Q8NCM8-3;Q8NCM8;Q8NCM8-2	.;DYHC2_HUMAN;.	L	4231;844;4238;477;148	ENSP00000364887:Q4231L;ENSP00000334021:Q844L;ENSP00000381167:Q4238L;ENSP00000436736:Q148L	ENSP00000334021:Q844L	Q	+	2	0	DYNC2H1	102844570	0.995000	0.38212	0.686000	0.30086	0.571000	0.35966	2.287000	0.43505	0.343000	0.23821	-0.345000	0.07892	CAA	.	.		0.388	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652	
SORL1	6653	hgsc.bcm.edu	37	11	121475846	121475846	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr11:121475846A>T	ENST00000260197.7	+	34	4805	c.4676A>T	c.(4675-4677)cAg>cTg	p.Q1559L	SORL1_ENST00000525532.1_Missense_Mutation_p.Q503L|SORL1_ENST00000534286.1_Missense_Mutation_p.Q469L|SORL1_ENST00000532694.1_Missense_Mutation_p.Q405L|SORL1_ENST00000527934.1_Missense_Mutation_p.Q174L	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1559	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TACAAAGTACAGAATCTTCAG	0.443																																					p.Q1559L		Atlas-SNP	.											.	SORL1	218	.	0			c.A4676T						.						149.0	148.0	149.0					11																	121475846		2203	4299	6502	SO:0001583	missense	6653	exon34			AAGTACAGAATCT	Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.4676A>T	chr11.hg19:g.121475846A>T	ENSP00000260197:p.Gln1559Leu	42.0	0.0		70.0	47.0	NM_003105	B2RNX7|Q92856	Missense_Mutation	SNP	ENST00000260197.7	hg19	CCDS8436.1	.	.	.	.	.	.	.	.	.	.	A	18.84	3.708816	0.68615	.	.	ENSG00000137642	ENST00000260197;ENST00000525532;ENST00000532694;ENST00000534286;ENST00000527934	T;T;T;T;T	0.57907	0.37;0.37;0.37;0.37;0.37	5.19	5.19	0.71726	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.59998	0.2235	L	0.29908	0.895	0.58432	D	0.999998	D;D	0.69078	0.997;0.997	D;D	0.83275	0.994;0.996	T	0.56679	-0.7939	10	0.26408	T	0.33	.	14.7146	0.69257	1.0:0.0:0.0:0.0	.	174;1559	E9PKB0;Q92673	.;SORL_HUMAN	L	1559;503;405;469;174	ENSP00000260197:Q1559L;ENSP00000434634:Q503L;ENSP00000432131:Q405L;ENSP00000436447:Q469L;ENSP00000435405:Q174L	ENSP00000260197:Q1559L	Q	+	2	0	SORL1	120981056	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.159000	0.77483	1.968000	0.57251	0.533000	0.62120	CAG	.	.		0.443	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105	
OR6M1	390261	hgsc.bcm.edu	37	11	123676807	123676807	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr11:123676807A>T	ENST00000309154.2	-	1	288	c.251T>A	c.(250-252)cTa>cAa	p.L84Q		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	84						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		CTCTTCTCCTAGGAGGCAGGC	0.443																																					p.L84Q		Atlas-SNP	.											.	OR6M1	60	.	0			c.T251A						.						109.0	100.0	103.0					11																	123676807		2202	4299	6501	SO:0001583	missense	390261	exon1			TCTCCTAGGAGGC	AB065762	CCDS31696.1	11q24.1	2012-08-09			ENSG00000196099	ENSG00000196099		"""GPCR / Class A : Olfactory receptors"""	14711	protein-coding gene	gene with protein product							Standard	NM_001005325		Approved		uc010rzz.2	Q8NGM8	OTTHUMG00000166012	ENST00000309154.2:c.251T>A	chr11.hg19:g.123676807A>T	ENSP00000311038:p.Leu84Gln	83.0	0.0		103.0	52.0	NM_001005325	B2RNK0|Q6IEW9|Q96R37	Missense_Mutation	SNP	ENST00000309154.2	hg19	CCDS31696.1	.	.	.	.	.	.	.	.	.	.	A	3.661	-0.069536	0.07228	.	.	ENSG00000196099	ENST00000309154	T	0.01438	4.89	3.76	2.58	0.30949	GPCR, rhodopsin-like superfamily (1);	0.000000	0.27744	U	0.018024	T	0.02119	0.0066	L	0.61387	1.9	0.09310	N	1	B	0.31193	0.312	B	0.31245	0.126	T	0.38023	-0.9680	10	0.66056	D	0.02	.	7.3755	0.26825	0.8047:0.0:0.0:0.1953	.	84	Q8NGM8	OR6M1_HUMAN	Q	84	ENSP00000311038:L84Q	ENSP00000311038:L84Q	L	-	2	0	OR6M1	123182017	0.000000	0.05858	0.001000	0.08648	0.083000	0.17756	0.775000	0.26689	0.459000	0.27016	0.533000	0.62120	CTA	.	.		0.443	OR6M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387437.1	NM_001005325	
B4GALNT3	283358	hgsc.bcm.edu	37	12	663011	663011	+	Missense_Mutation	SNP	G	G	T	rs138791810	byFrequency	TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr12:663011G>T	ENST00000266383.5	+	14	1935	c.1922G>T	c.(1921-1923)cGg>cTg	p.R641L		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	641					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			TTCAGTGCCCGGAATCTCGAC	0.547																																					p.R641L		Atlas-SNP	.											.	B4GALNT3	64	.	0			c.G1922T						.						134.0	108.0	117.0					12																	663011		2203	4300	6503	SO:0001583	missense	283358	exon14			GTGCCCGGAATCT	AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"""Beta 4-glycosyltransferases"""	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283	ENST00000266383.5:c.1922G>T	chr12.hg19:g.663011G>T	ENSP00000266383:p.Arg641Leu	117.0	0.0		177.0	36.0	NM_173593	Q6ZNC1|Q8N7T6	Missense_Mutation	SNP	ENST00000266383.5	hg19	CCDS8504.1	.	.	.	.	.	.	.	.	.	.	G	9.647	1.140527	0.21205	.	.	ENSG00000139044	ENST00000266383;ENST00000322843	T;T	0.31247	3.48;1.5	5.76	-2.92	0.05615	.	0.780907	0.12732	N	0.443754	T	0.19208	0.0461	L	0.46157	1.445	0.09310	N	1	P;B	0.36010	0.532;0.428	B;B	0.27608	0.071;0.081	T	0.04307	-1.0961	10	0.44086	T	0.13	-4.0594	7.1744	0.25736	0.4495:0.1091:0.4414:0.0	.	544;641	E9PHD9;Q6L9W6	.;B4GN3_HUMAN	L	641;544	ENSP00000266383:R641L;ENSP00000322953:R544L	ENSP00000266383:R641L	R	+	2	0	B4GALNT3	533272	0.000000	0.05858	0.000000	0.03702	0.314000	0.28054	0.057000	0.14279	-1.001000	0.03434	-0.140000	0.14226	CGG	.	G|0.998;A|0.002		0.547	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251406.2	NM_173593	
ERC1	23085	hgsc.bcm.edu	37	12	1553897	1553897	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr12:1553897A>T	ENST00000397203.2	+	18	3600	c.3194A>T	c.(3193-3195)cAg>cTg	p.Q1065L	ERC1_ENST00000355446.5_Missense_Mutation_p.Q1065L|ERC1_ENST00000360905.4_Missense_Mutation_p.Q1065L|ERC1_ENST00000589028.1_Missense_Mutation_p.Q1065L|ERC1_ENST00000546231.2_Missense_Mutation_p.Q1069L|ERC1_ENST00000543086.3_Missense_Mutation_p.Q1037L			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	1065	FIP-RBD. {ECO:0000255|PROSITE- ProRule:PRU00844}.				I-kappaB phosphorylation (GO:0007252)|multicellular organismal development (GO:0007275)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|IkappaB kinase complex (GO:0008385)|presynaptic membrane (GO:0042734)	leucine zipper domain binding (GO:0043522)			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			AATGAGCTGCAGAAGATGACC	0.557																																					p.Q1065L		Atlas-SNP	.											.	ERC1	95	.	0			c.A3194T						.						62.0	65.0	64.0					12																	1553897		2203	4300	6503	SO:0001583	missense	23085	exon18			AGCTGCAGAAGAT	AB015617	CCDS8508.1, CCDS53732.1	12p13.3	2008-02-05	2006-08-14	2006-08-14	ENSG00000082805	ENSG00000082805			17072	protein-coding gene	gene with protein product		607127	"""RAB6 interacting protein 2"""	RAB6IP2		10697956, 11929610	Standard	NM_178040		Approved	ELKS, KIAA1081, CAST2, MGC12974	uc001qjb.2	Q8IUD2	OTTHUMG00000130138	ENST00000397203.2:c.3194A>T	chr12.hg19:g.1553897A>T	ENSP00000380386:p.Gln1065Leu	87.0	0.0		135.0	59.0	NM_178040	A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1	Missense_Mutation	SNP	ENST00000397203.2	hg19	CCDS8508.1	.	.	.	.	.	.	.	.	.	.	A	15.30	2.793415	0.50102	.	.	ENSG00000082805	ENST00000397203;ENST00000543086;ENST00000546231;ENST00000355446;ENST00000360905	T;T;T;T	0.25414	1.87;1.86;1.8;1.87	5.53	4.37	0.52481	Rab-binding domain FIP-RBD (1);	0.633137	0.15222	N	0.273846	T	0.21921	0.0528	L	0.32530	0.975	0.51233	D	0.999917	B;B	0.27732	0.187;0.016	B;B	0.24701	0.055;0.015	T	0.02797	-1.1109	10	0.72032	D	0.01	-24.8152	12.7198	0.57136	0.8625:0.1375:0.0:0.0	.	1037;1065	Q8IUD2-3;Q8IUD2	.;RB6I2_HUMAN	L	1065;1037;1065;1065;1065	ENSP00000380386:Q1065L;ENSP00000438546:Q1037L;ENSP00000347621:Q1065L;ENSP00000354158:Q1065L	ENSP00000347621:Q1065L	Q	+	2	0	ERC1	1424158	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.882000	0.69714	0.917000	0.36895	0.529000	0.55759	CAG	.	.		0.557	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398380.2	NM_015064	
PTPN6	5777	hgsc.bcm.edu	37	12	7064872	7064872	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr12:7064872A>T	ENST00000318974.9	+	7	1041	c.797A>T	c.(796-798)cAg>cTg	p.Q266L	PTPN6_ENST00000447931.2_Missense_Mutation_p.Q227L|PTPN6_ENST00000399448.1_Missense_Mutation_p.Q268L|PTPN6_ENST00000456013.1_Missense_Mutation_p.Q266L	NM_002831.5	NP_002822.2	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type 6	266	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				abortive mitotic cell cycle (GO:0033277)|apoptotic process (GO:0006915)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|G-protein coupled receptor signaling pathway (GO:0007186)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|natural killer cell mediated cytotoxicity (GO:0042267)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of cell proliferation (GO:0008285)|negative regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002924)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein dephosphorylation (GO:0006470)|regulation of B cell differentiation (GO:0045577)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|type I interferon signaling pathway (GO:0060337)	alpha-beta T cell receptor complex (GO:0042105)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						CTGGAAGGGCAGCGGCCAGAG	0.587																																					p.Q268L		Atlas-SNP	.											.	PTPN6	42	.	0			c.A803T						.						88.0	105.0	100.0					12																	7064872		2119	4225	6344	SO:0001583	missense	5777	exon7			AAGGGCAGCGGCC		CCDS41744.1, CCDS44820.1, CCDS44821.1	12p13.31	2013-02-14			ENSG00000111679	ENSG00000111679		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"", ""SH2 domain containing"""	9658	protein-coding gene	gene with protein product		176883				1639416	Standard	NM_080548		Approved	HCP, HCPH, PTP-1C, SHP-1, SHP1	uc001qsa.1	P29350	OTTHUMG00000168518	ENST00000318974.9:c.797A>T	chr12.hg19:g.7064872A>T	ENSP00000326010:p.Gln266Leu	115.0	0.0		167.0	71.0	NM_080548	A8K306|G3V0F8|Q969V8|Q9UK67	Missense_Mutation	SNP	ENST00000318974.9	hg19	CCDS44820.1	.	.	.	.	.	.	.	.	.	.	A	16.42	3.117177	0.56505	.	.	ENSG00000111679	ENST00000399448;ENST00000447931;ENST00000318974;ENST00000456013	T;T;T;T	0.13657	2.63;2.59;2.57;2.57	5.4	4.24	0.50183	Protein-tyrosine phosphatase, receptor/non-receptor type (2);	0.210095	0.41823	D	0.000807	T	0.09905	0.0243	L	0.31476	0.935	0.58432	D	0.999999	P;B;B;B;B	0.43352	0.804;0.051;0.055;0.008;0.016	B;B;B;B;B	0.38225	0.268;0.045;0.045;0.02;0.02	T	0.20840	-1.0263	10	0.18710	T	0.47	.	12.5704	0.56334	0.861:0.139:0.0:0.0	.	254;227;266;266;268	B4DPS0;P29350-2;G3V0F8;P29350;Q53XS4	.;.;.;PTN6_HUMAN;.	L	268;227;266;266	ENSP00000382376:Q268L;ENSP00000415979:Q227L;ENSP00000326010:Q266L;ENSP00000391592:Q266L	ENSP00000326010:Q266L	Q	+	2	0	PTPN6	6935133	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.582000	0.60957	0.871000	0.35750	0.459000	0.35465	CAG	.	.		0.587	PTPN6-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400023.1	NM_002831	
KMT2D	8085	hgsc.bcm.edu	37	12	49416526	49416526	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr12:49416526C>A	ENST00000301067.7	-	51	16184	c.16185G>T	c.(16183-16185)tgG>tgT	p.W5395C		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5395					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CGTTGTTCTTCCATTCGGTGC	0.552																																					p.W5395C		Atlas-SNP	.											.	MLL2	1173	.	0			c.G16185T						.						105.0	118.0	114.0					12																	49416526		2070	4197	6267	SO:0001583	missense	8085	exon51			GTTCTTCCATTCG	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.16185G>T	chr12.hg19:g.49416526C>A	ENSP00000301067:p.Trp5395Cys	114.0	0.0		168.0	77.0	NM_003482	O14687	Missense_Mutation	SNP	ENST00000301067.7	hg19	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	13.21	2.169412	0.38315	.	.	ENSG00000167548	ENST00000301067;ENST00000526209	D;D	0.85702	-2.02;-2.02	5.09	5.09	0.68999	.	0.000000	0.33534	N	0.004814	D	0.92136	0.7507	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92937	0.6369	10	0.87932	D	0	.	17.6392	0.88130	0.0:1.0:0.0:0.0	.	5395	O14686	MLL2_HUMAN	C	5395;76	ENSP00000301067:W5395C;ENSP00000435714:W76C	ENSP00000301067:W5395C	W	-	3	0	MLL2	47702793	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.734000	0.84928	2.546000	0.85860	0.591000	0.81541	TGG	.	.		0.552	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2		
ACVRL1	94	hgsc.bcm.edu	37	12	52309133	52309133	+	Silent	SNP	T	T	A	rs370666061		TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr12:52309133T>A	ENST00000388922.4	+	7	1180	c.897T>A	c.(895-897)gcT>gcA	p.A299A	ACVRL1_ENST00000550683.1_Silent_p.A313A|ACVRL1_ENST00000419526.2_Silent_p.A125A	NM_000020.2	NP_000011.2	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	299	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|angiogenesis (GO:0001525)|artery development (GO:0060840)|blood circulation (GO:0008015)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|blood vessel maturation (GO:0001955)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|cellular response to transforming growth factor beta stimulus (GO:0071560)|endothelial tube morphogenesis (GO:0061154)|in utero embryonic development (GO:0001701)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of focal adhesion assembly (GO:0051895)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of blood pressure (GO:0008217)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of DNA replication (GO:0006275)|regulation of endothelial cell proliferation (GO:0001936)|regulation of transcription, DNA-templated (GO:0006355)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|venous blood vessel development (GO:0060841)|wound healing, spreading of epidermal cells (GO:0035313)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	activin binding (GO:0048185)|activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	CCCATCTGGCTCTGAGGCTAG	0.627																																					p.A299A		Atlas-SNP	.											.	ACVRL1	60	.	0			c.T897A						.						60.0	56.0	57.0					12																	52309133		2203	4300	6503	SO:0001819	synonymous_variant	94	exon7			TCTGGCTCTGAGG	L17075	CCDS31804.1	12q13.13	2014-09-17			ENSG00000139567	ENSG00000139567			175	protein-coding gene	gene with protein product		601284		ACVRLK1, ORW2		8397373, 8640225	Standard	NM_000020		Approved	HHT2, ALK1, HHT	uc001rzk.3	P37023	OTTHUMG00000169507	ENST00000388922.4:c.897T>A	chr12.hg19:g.52309133T>A		74.0	0.0		102.0	51.0	NM_000020	A6NGA8	Silent	SNP	ENST00000388922.4	hg19	CCDS31804.1																																																																																			.	.		0.627	ACVRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404520.2		
KRT1	3848	hgsc.bcm.edu	37	12	53069093	53069093	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr12:53069093C>G	ENST00000252244.3	-	9	1877	c.1819G>C	c.(1819-1821)Ggg>Cgg	p.G607R		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	607	Gly/Ser-rich.|Tail.				complement activation, lectin pathway (GO:0001867)|establishment of skin barrier (GO:0061436)|fibrinolysis (GO:0042730)|negative regulation of inflammatory response (GO:0050728)|regulation of angiogenesis (GO:0045765)|response to oxidative stress (GO:0006979)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						CCAGAGCTCCCGCCGCCAGAG	0.667																																					p.G607R		Atlas-SNP	.											.	KRT1	110	.	0			c.G1819C						.						20.0	27.0	25.0					12																	53069093		2193	4277	6470	SO:0001583	missense	3848	exon9			AGCTCCCGCCGCC	X69725	CCDS8836.1	12q13.13	2014-06-05	2008-08-01		ENSG00000167768	ENSG00000167768		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6412	protein-coding gene	gene with protein product		139350	"""epidermolytic hyperkeratosis 1"""	EHK1		2461420, 2470667, 16831889	Standard	NM_006121		Approved	KRT1A	uc001sau.1	P04264	OTTHUMG00000169749	ENST00000252244.3:c.1819G>C	chr12.hg19:g.53069093C>G	ENSP00000252244:p.Gly607Arg	80.0	0.0		96.0	32.0	NM_006121	B2RA01|P85925|P86104|Q14720|Q6GSJ0|Q9H298	Missense_Mutation	SNP	ENST00000252244.3	hg19	CCDS8836.1	.	.	.	.	.	.	.	.	.	.	C	9.964	1.223634	0.22457	.	.	ENSG00000167768	ENST00000252244	D	0.96041	-3.89	4.32	2.37	0.29283	.	.	.	.	.	D	0.86797	0.6019	N	0.08118	0	0.09310	N	1	B	0.26744	0.158	B	0.22753	0.041	T	0.78583	-0.2148	9	0.37606	T	0.19	.	5.6336	0.17524	0.3479:0.556:0.0:0.096	.	607	P04264	K2C1_HUMAN	R	607	ENSP00000252244:G607R	ENSP00000252244:G607R	G	-	1	0	KRT1	51355360	0.000000	0.05858	0.004000	0.12327	0.391000	0.30476	0.019000	0.13444	0.894000	0.36317	0.313000	0.20887	GGG	.	.		0.667	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405706.1	NM_006121	
OR6C65	403282	hgsc.bcm.edu	37	12	55795077	55795077	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr12:55795077T>A	ENST00000379665.2	+	1	864	c.765T>A	c.(763-765)ttT>ttA	p.F255L		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	255						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						GTTGCATTTTTATGTGTGTAA	0.383																																					p.F255L		Atlas-SNP	.											.	OR6C65	44	.	0			c.T765A						.						102.0	95.0	97.0					12																	55795077		2203	4300	6503	SO:0001583	missense	403282	exon1			CATTTTTATGTGT		CCDS31821.1	12q13.2	2013-09-23			ENSG00000205328	ENSG00000205328		"""GPCR / Class A : Olfactory receptors"""	31295	protein-coding gene	gene with protein product							Standard	NM_001005518		Approved		uc010spl.2	A6NJZ3	OTTHUMG00000169955	ENST00000379665.2:c.765T>A	chr12.hg19:g.55795077T>A	ENSP00000368986:p.Phe255Leu	94.0	0.0		92.0	26.0	NM_001005518	B2RNH9	Missense_Mutation	SNP	ENST00000379665.2	hg19	CCDS31821.1	.	.	.	.	.	.	.	.	.	.	T	15.59	2.878610	0.51801	.	.	ENSG00000205328	ENST00000379665	T	0.00241	8.46	3.56	-1.56	0.08532	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41500	U	0.000867	T	0.00412	0.0013	M	0.78916	2.43	0.18873	N	0.999988	D	0.89917	1.0	D	0.97110	1.0	T	0.39860	-0.9593	10	0.87932	D	0	.	8.489	0.33089	0.0:0.6152:0.0:0.3848	.	255	A6NJZ3	O6C65_HUMAN	L	255	ENSP00000368986:F255L	ENSP00000368986:F255L	F	+	3	2	OR6C65	54081344	0.000000	0.05858	0.180000	0.23079	0.686000	0.39977	-0.563000	0.05943	-0.495000	0.06659	0.348000	0.21847	TTT	.	.		0.383	OR6C65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406674.1		
OR6C65	403282	hgsc.bcm.edu	37	12	55795161	55795161	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr12:55795161G>T	ENST00000379665.2	+	1	948	c.849G>T	c.(847-849)ttG>ttT	p.L283F		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	283						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						CTCCTATGTTGAATCCCTTTA	0.358																																					p.L283F		Atlas-SNP	.											.	OR6C65	44	.	0			c.G849T						.						67.0	65.0	66.0					12																	55795161		2203	4300	6503	SO:0001583	missense	403282	exon1			TATGTTGAATCCC		CCDS31821.1	12q13.2	2013-09-23			ENSG00000205328	ENSG00000205328		"""GPCR / Class A : Olfactory receptors"""	31295	protein-coding gene	gene with protein product							Standard	NM_001005518		Approved		uc010spl.2	A6NJZ3	OTTHUMG00000169955	ENST00000379665.2:c.849G>T	chr12.hg19:g.55795161G>T	ENSP00000368986:p.Leu283Phe	42.0	0.0		44.0	17.0	NM_001005518	B2RNH9	Missense_Mutation	SNP	ENST00000379665.2	hg19	CCDS31821.1	.	.	.	.	.	.	.	.	.	.	G	11.40	1.628726	0.28978	.	.	ENSG00000205328	ENST00000379665	T	0.48522	0.81	4.24	-0.00449	0.14022	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31071	U	0.008318	T	0.53562	0.1804	M	0.82323	2.585	0.21499	N	0.999667	P	0.51449	0.945	P	0.51324	0.666	T	0.50083	-0.8869	10	0.62326	D	0.03	.	4.8583	0.13570	0.347:0.1457:0.5072:0.0	.	283	A6NJZ3	O6C65_HUMAN	F	283	ENSP00000368986:L283F	ENSP00000368986:L283F	L	+	3	2	OR6C65	54081428	0.000000	0.05858	0.015000	0.15790	0.395000	0.30598	-2.726000	0.00808	-0.236000	0.09753	0.424000	0.28305	TTG	.	.		0.358	OR6C65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406674.1		
SOCS2	8835	hgsc.bcm.edu	37	12	93968804	93968804	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr12:93968804A>T	ENST00000340600.2	+	3	1044	c.446A>T	c.(445-447)cAc>cTc	p.H149L	SOCS2_ENST00000548537.1_3'UTR|SOCS2_ENST00000549206.1_Missense_Mutation_p.H149L|SOCS2_ENST00000536696.2_Missense_Mutation_p.H149L|SOCS2_ENST00000551556.1_Missense_Mutation_p.H149L|SOCS2_ENST00000549122.1_Missense_Mutation_p.H149L	NM_001270468.1|NM_001270469.1|NM_001270471.1|NM_003877.4	NP_001257397.1|NP_001257398.1|NP_001257400.1|NP_003868.1	O14508	SOCS2_HUMAN	suppressor of cytokine signaling 2	149	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cellular response to hormone stimulus (GO:0032870)|growth hormone receptor signaling pathway (GO:0060396)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of signal transduction (GO:0009967)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)|regulation of signal transduction (GO:0009966)|response to estradiol (GO:0032355)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	growth hormone receptor binding (GO:0005131)|insulin-like growth factor receptor binding (GO:0005159)|JAK pathway signal transduction adaptor activity (GO:0008269)|SH3/SH2 adaptor activity (GO:0005070)			cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)	14						GGCACTGTTCACCTTTATCTG	0.502																																					p.H149L		Atlas-SNP	.											.	SOCS2	23	.	0			c.A446T						.						91.0	84.0	86.0					12																	93968804		2203	4300	6503	SO:0001583	missense	8835	exon3			CTGTTCACCTTTA	AF037989	CCDS9047.1	12q	2013-02-14			ENSG00000120833	ENSG00000120833		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	19382	protein-coding gene	gene with protein product	"""STAT-induced STAT inhibitor-2"""	605117				9344848, 9266833	Standard	NM_003877		Approved	STATI2, SSI2, SOCS-2, SSI-2, CIS2, Cish2	uc031qjc.1	O14508		ENST00000340600.2:c.446A>T	chr12.hg19:g.93968804A>T	ENSP00000339428:p.His149Leu	116.0	0.0		115.0	73.0	NM_001270470	A8K3D1|O14542|O95102|Q9UKS5	Missense_Mutation	SNP	ENST00000340600.2	hg19	CCDS9047.1	.	.	.	.	.	.	.	.	.	.	A	11.35	1.611657	0.28712	.	.	ENSG00000120833	ENST00000340600;ENST00000549206;ENST00000536696;ENST00000539385;ENST00000549122;ENST00000549887;ENST00000551556	T;T;T;T;T;T	0.31510	1.93;1.93;1.93;1.93;1.49;1.93	5.84	5.84	0.93424	SH2 motif (2);	0.046636	0.85682	D	0.000000	T	0.17959	0.0431	N	0.25144	0.715	0.58432	D	0.999999	P	0.38455	0.632	B	0.24394	0.053	T	0.07673	-1.0760	10	0.17832	T	0.49	-2.5936	16.2108	0.82158	1.0:0.0:0.0:0.0	.	149	O14508	SOCS2_HUMAN	L	149;149;149;97;149;149;149	ENSP00000339428:H149L;ENSP00000448815:H149L;ENSP00000442898:H149L;ENSP00000447161:H149L;ENSP00000448611:H149L;ENSP00000449227:H149L	ENSP00000339428:H149L	H	+	2	0	SOCS2	92492935	1.000000	0.71417	1.000000	0.80357	0.754000	0.42855	7.114000	0.77103	2.232000	0.73038	0.533000	0.62120	CAC	.	.		0.502	SOCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407731.2		
NTN4	59277	hgsc.bcm.edu	37	12	96104336	96104336	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr12:96104336T>C	ENST00000343702.4	-	5	1511	c.1063A>G	c.(1063-1065)Agt>Ggt	p.S355G	NTN4_ENST00000344911.4_Missense_Mutation_p.S318G|NTN4_ENST00000553059.1_Missense_Mutation_p.S355G|NTN4_ENST00000538383.1_Missense_Mutation_p.S318G|NTN4_ENST00000552603.1_5'Flank	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN	netrin 4	355	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|extracellular matrix organization (GO:0030198)|neuron remodeling (GO:0016322)|regulation of branching involved in salivary gland morphogenesis by extracellular matrix-epithelial cell signaling (GO:0060668)	basement membrane (GO:0005604)|plasma membrane (GO:0005886)				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						ACACCACCACTACGATTCCCT	0.517																																					p.S355G		Atlas-SNP	.											.	NTN4	67	.	0			c.A1063G						.						198.0	134.0	156.0					12																	96104336		2203	4300	6503	SO:0001583	missense	59277	exon5			CACCACTACGATT	AF119916	CCDS9054.1	12q22	2013-03-01			ENSG00000074527	ENSG00000074527		"""Netrins"""	13658	protein-coding gene	gene with protein product	"""beta-netrin"", ""Netrin-4"""	610401				11038171	Standard	NM_021229		Approved		uc001tei.3	Q9HB63	OTTHUMG00000170290	ENST00000343702.4:c.1063A>G	chr12.hg19:g.96104336T>C	ENSP00000340998:p.Ser355Gly	85.0	0.0		74.0	16.0	NM_021229	B2RNC2|Q658K9|Q7L3F1|Q7L9D6|Q7Z5B6|Q9BZP1|Q9NT44|Q9P133	Missense_Mutation	SNP	ENST00000343702.4	hg19	CCDS9054.1	.	.	.	.	.	.	.	.	.	.	T	17.17	3.321950	0.60634	.	.	ENSG00000074527	ENST00000343702;ENST00000344911;ENST00000538383;ENST00000553059	T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04	5.39	5.39	0.77823	EGF-like, laminin (3);	0.173356	0.64402	D	0.000008	T	0.56906	0.2017	L	0.33485	1.01	0.58432	D	0.999993	B;B	0.23540	0.072;0.087	B;B	0.34590	0.045;0.186	T	0.53358	-0.8450	10	0.30854	T	0.27	.	15.7214	0.77713	0.0:0.0:0.0:1.0	.	355;355	Q9HB63-2;Q9HB63	.;NET4_HUMAN	G	355;318;318;355	ENSP00000340998:S355G;ENSP00000339436:S318G;ENSP00000444432:S318G;ENSP00000447292:S355G	ENSP00000340998:S355G	S	-	1	0	NTN4	94628467	1.000000	0.71417	0.803000	0.32268	0.024000	0.10985	5.953000	0.70290	2.188000	0.69820	0.533000	0.62120	AGT	.	.		0.517	NTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408372.1	NM_021229	
SELPLG	6404	hgsc.bcm.edu	37	12	109017504	109017504	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr12:109017504T>A	ENST00000550948.1	-	2	804	c.580A>T	c.(580-582)Act>Tct	p.T194S	SELPLG_ENST00000388962.3_Missense_Mutation_p.T184S|SELPLG_ENST00000228463.6_Missense_Mutation_p.T210S			Q14242	SELPL_HUMAN	selectin P ligand	194	12 X 10 AA tandem repeats.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular response to interleukin-6 (GO:0071354)|leukocyte adhesive activation (GO:0050902)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						GCTGGTGCAGTGGTCTGTGCC	0.622																																					p.T210S		Atlas-SNP	.											.	SELPLG	138	.	0			c.A628T						.						181.0	145.0	157.0					12																	109017504		2203	4300	6503	SO:0001583	missense	6404	exon2			GTGCAGTGGTCTG		CCDS31895.1, CCDS31895.2, CCDS55881.1	12q24	2014-01-30						"""CD molecules"", ""Endogenous ligands"""	10722	protein-coding gene	gene with protein product		600738				7505206	Standard	NM_003006		Approved	PSGL-1, CD162	uc010sxe.2	Q14242		ENST00000550948.1:c.580A>T	chr12.hg19:g.109017504T>A	ENSP00000447752:p.Thr194Ser	99.0	0.0		92.0	26.0	NM_001206609	A8K2Y0|B4DQC3|B7Z5C7|J3KMX6|Q12775|Q6GTW7|Q8N7J7	Missense_Mutation	SNP	ENST00000550948.1	hg19	CCDS31895.2	.	.	.	.	.	.	.	.	.	.	T	6.124	0.391166	0.11581	.	.	ENSG00000110876	ENST00000388962;ENST00000550948;ENST00000228463	T;T;T	0.14516	2.5;2.5;2.5	3.31	0.741	0.18336	.	1.049680	0.07607	N	0.924631	T	0.08492	0.0211	N	0.25380	0.74	0.09310	N	1	B;B;B	0.33044	0.395;0.395;0.395	B;B;B	0.32289	0.143;0.143;0.143	T	0.40365	-0.9567	10	0.20046	T	0.44	-6.481	4.6405	0.12546	0.2906:0.0:0.3974:0.312	.	210;194;154	B7Z5C7;Q14242;B4DHR9	.;SELPL_HUMAN;.	S	184;194;210	ENSP00000373614:T184S;ENSP00000447752:T194S;ENSP00000228463:T210S	ENSP00000228463:T210S	T	-	1	0	SELPLG	107541633	0.000000	0.05858	0.002000	0.10522	0.009000	0.06853	0.015000	0.13355	0.130000	0.18549	0.402000	0.26972	ACT	.	.		0.622	SELPLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403904.1		
DHX37	57647	hgsc.bcm.edu	37	12	125435079	125435079	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr12:125435079C>T	ENST00000308736.2	-	23	3099	c.3001G>A	c.(3001-3003)Gtc>Atc	p.V1001I	DHX37_ENST00000544745.1_Missense_Mutation_p.V788I	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	1001							ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		ATCCACTGGACCTCCACGCTA	0.697																																					p.V1001I		Atlas-SNP	.											.	DHX37	114	.	0			c.G3001A						.						18.0	25.0	23.0					12																	125435079		2197	4294	6491	SO:0001583	missense	57647	exon23			ACTGGACCTCCAC	AB040950	CCDS9261.1	12q24.31	2004-03-25	2003-06-13	2003-06-20		ENSG00000150990		"""DEAH-boxes"""	17210	protein-coding gene	gene with protein product			"""DEAD/DEAH box helicase DDX37"""	DDX37		10819331	Standard	NM_032656		Approved	KIAA1517, MGC4322, MGC2695	uc001ugy.3	Q8IY37		ENST00000308736.2:c.3001G>A	chr12.hg19:g.125435079C>T	ENSP00000311135:p.Val1001Ile	120.0	0.0		66.0	22.0	NM_032656	Q9BUI7|Q9P211	Missense_Mutation	SNP	ENST00000308736.2	hg19	CCDS9261.1	.	.	.	.	.	.	.	.	.	.	C	5.938	0.357142	0.11239	.	.	ENSG00000150990	ENST00000308736;ENST00000544745	T;T	0.03004	4.17;4.08	5.07	-3.55	0.04639	Domain of unknown function DUF1605 (1);	0.741508	0.12791	N	0.438895	T	0.03011	0.0089	L	0.34521	1.04	0.09310	N	1	B;B	0.11235	0.002;0.004	B;B	0.14023	0.003;0.01	T	0.35301	-0.9794	10	0.37606	T	0.19	-16.5356	8.9162	0.35583	0.0:0.3147:0.1261:0.5592	.	788;1001	F5H3Y4;Q8IY37	.;DHX37_HUMAN	I	1001;788	ENSP00000311135:V1001I;ENSP00000439009:V788I	ENSP00000311135:V1001I	V	-	1	0	DHX37	124001032	0.261000	0.24063	0.003000	0.11579	0.156000	0.22039	0.504000	0.22626	-1.301000	0.02338	-0.300000	0.09419	GTC	.	.		0.697	DHX37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032656	
SACS	26278	hgsc.bcm.edu	37	13	23909572	23909572	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr13:23909572G>T	ENST00000382292.3	-	9	8716	c.8443C>A	c.(8443-8445)Ctt>Att	p.L2815I	SACS_ENST00000402364.1_Missense_Mutation_p.L2065I|SACS_ENST00000382298.3_Missense_Mutation_p.L2815I			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	2815					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CACGTAGTAAGATTTCCTTCA	0.348																																					p.L2815I		Atlas-SNP	.											.	SACS	871	.	0			c.C8443A						.						101.0	95.0	97.0					13																	23909572		2203	4299	6502	SO:0001583	missense	26278	exon10			TAGTAAGATTTCC	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.8443C>A	chr13.hg19:g.23909572G>T	ENSP00000371729:p.Leu2815Ile	43.0	0.0		94.0	14.0	NM_014363	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	hg19	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	G	20.3	3.972140	0.74246	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.87029	-2.05;-2.2;-2.05	5.65	5.65	0.86999	.	0.073809	0.52532	D	0.000079	T	0.73048	0.3537	N	0.08118	0	0.28514	N	0.913406	P	0.42827	0.791	B	0.31946	0.138	T	0.66101	-0.6007	10	0.18276	T	0.48	.	19.7855	0.96434	0.0:0.0:1.0:0.0	.	2815	Q9NZJ4	SACS_HUMAN	I	2815;2065;2815	ENSP00000371729:L2815I;ENSP00000385844:L2065I;ENSP00000371735:L2815I	ENSP00000371729:L2815I	L	-	1	0	SACS	22807572	1.000000	0.71417	0.957000	0.39632	0.992000	0.81027	3.644000	0.54381	2.684000	0.91462	0.555000	0.69702	CTT	.	.		0.348	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363	
SUPT20H	55578	hgsc.bcm.edu	37	13	37621713	37621713	+	Missense_Mutation	SNP	C	C	A	rs530162287	byFrequency	TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr13:37621713C>A	ENST00000350612.6	-	5	344	c.124G>T	c.(124-126)Gac>Tac	p.D42Y	SUPT20H_ENST00000475892.1_Missense_Mutation_p.D42Y|SUPT20H_ENST00000464744.1_Missense_Mutation_p.D42Y|SUPT20H_ENST00000360252.4_Missense_Mutation_p.D42Y|SUPT20H_ENST00000542180.1_Missense_Mutation_p.D30Y|SUPT20H_ENST00000470359.2_5'UTR|SUPT20H_ENST00000356185.3_Missense_Mutation_p.D42Y	NM_001014286.2	NP_001014308.2	Q8NEM7	SP20H_HUMAN	suppressor of Ty 20 homolog (S. cerevisiae)	42					autophagy (GO:0006914)|chromatin organization (GO:0006325)|gastrulation (GO:0007369)	SAGA complex (GO:0000124)|SAGA-type complex (GO:0070461)	transcription cofactor activity (GO:0003712)										ATATACAAGTCATAAAGTTTT	0.234													C|||	2	0.000399361	0.0	0.0029	5008	,	,		15950	0.0		0.0	False		,,,				2504	0.0				p.D42Y		Atlas-SNP	.											.	.	.	.	0			c.G124T						.						16.0	16.0	16.0					13																	37621713		2122	4163	6285	SO:0001583	missense	55578	exon5			ACAAGTCATAAAG	AF093250	CCDS9362.1, CCDS31959.1, CCDS61311.1	13q13	2012-11-29	2012-11-29	2012-11-29	ENSG00000102710	ENSG00000102710			20596	protein-coding gene	gene with protein product	"""p38 interacting protein"", ""transcription factor (p38 interacting protein)"""	613417	"""chromosome 13 open reading frame 19"", ""family with sequence similarity 48, member A"""	C13orf19, FAM48A		12070015 , 16685401	Standard	NM_001278480		Approved	SPT20, bA421P11.4, P38IP	uc001uwg.3	Q8NEM7	OTTHUMG00000016747	ENST00000350612.6:c.124G>T	chr13.hg19:g.37621713C>A	ENSP00000218894:p.Asp42Tyr	398.0	0.0		145.0	95.0	NM_001014286	E7ER46|Q71RF3|Q9Y6A6	Missense_Mutation	SNP	ENST00000350612.6	hg19	CCDS31959.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.764630	0.89932	.	.	ENSG00000102710	ENST00000360252;ENST00000475892;ENST00000350612;ENST00000356185;ENST00000536874;ENST00000464744;ENST00000542180;ENST00000497318	T;T;T;T;T;T;T	0.56776	0.44;0.51;1.05;0.44;0.44;0.61;0.69	6.02	6.02	0.97574	.	0.045079	0.85682	D	0.000000	T	0.68869	0.3048	L	0.46157	1.445	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.79108	0.986;0.986;0.987;0.986;0.992;0.992	T	0.68678	-0.5345	10	0.87932	D	0	-17.3561	19.5289	0.95219	0.0:1.0:0.0:0.0	.	30;42;42;42;42;42	B4E2D5;B3KNI1;E7ER46;A8K8L1;Q8NEM7-2;Q8NEM7	.;.;.;.;.;FA48A_HUMAN	Y	42;42;42;42;42;42;30;42	ENSP00000353388:D42Y;ENSP00000417510:D42Y;ENSP00000218894:D42Y;ENSP00000348512:D42Y;ENSP00000419754:D42Y;ENSP00000439000:D30Y;ENSP00000420170:D42Y	ENSP00000218894:D42Y	D	-	1	0	FAM48A	36519713	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.138000	0.77305	2.865000	0.98341	0.655000	0.94253	GAC	.	.		0.234	SUPT20H-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354766.1	NM_017569	
DIAPH3	81624	hgsc.bcm.edu	37	13	60544097	60544097	+	Silent	SNP	T	T	A			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr13:60544097T>A	ENST00000400324.4	-	17	2275	c.2055A>T	c.(2053-2055)acA>acT	p.T685T	DIAPH3_ENST00000400319.1_Silent_p.T615T|DIAPH3_ENST00000400330.1_Silent_p.T685T|DIAPH3_ENST00000267215.4_Silent_p.T685T|DIAPH3_ENST00000377908.2_Silent_p.T674T|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400320.1_Silent_p.T639T	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	685	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		GGCAACAAAATGTATTCTCAA	0.254																																					p.T685T		Atlas-SNP	.											.	DIAPH3	139	.	0			c.A2055T						.						63.0	59.0	60.0					13																	60544097		1805	4061	5866	SO:0001819	synonymous_variant	81624	exon17			ACAAAATGTATTC	AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"""diaphanous (Drosophila, homolog) 3"", ""auditory neuropathy, autosomal dominant 1"", ""diaphanous homolog 3 (Drosophila)"""	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.2055A>T	chr13.hg19:g.60544097T>A		142.0	0.0		236.0	184.0	NM_001042517	A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Silent	SNP	ENST00000400324.4	hg19	CCDS41898.1																																																																																			.	.		0.254	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045166.3	NM_001042517	
NIN	51199	hgsc.bcm.edu	37	14	51224347	51224347	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr14:51224347T>A	ENST00000382041.3	-	18	3591	c.3401A>T	c.(3400-3402)cAa>cTa	p.Q1134L	NIN_ENST00000382043.4_Intron|NIN_ENST00000530997.2_Missense_Mutation_p.Q1134L|NIN_ENST00000245441.5_Missense_Mutation_p.Q1134L|NIN_ENST00000324330.9_Missense_Mutation_p.Q1134L|NIN_ENST00000453196.1_Missense_Mutation_p.Q1134L|NIN_ENST00000389868.3_Intron	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1134					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					ACCTTCTACTTGCTTCGTTCG	0.483			T	PDGFRB	MPD																																p.Q1134L		Atlas-SNP	.		Dom	yes		14	14q24	51199	ninein (GSK3B interacting protein)		L	.	NIN	475	.	0			c.A3401T						.						156.0	147.0	150.0					14																	51224347		2203	4300	6503	SO:0001583	missense	51199	exon18			TCTACTTGCTTCG	AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"""EF-hand domain containing"""	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.3401A>T	chr14.hg19:g.51224347T>A	ENSP00000371472:p.Gln1134Leu	98.0	0.0		81.0	67.0	NM_020921	A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	ENST00000382041.3	hg19	CCDS32079.1	.	.	.	.	.	.	.	.	.	.	T	6.198	0.404728	0.11754	.	.	ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196	T;T;T;T	0.07688	3.43;3.17;3.17;3.17	5.93	-1.04	0.10068	.	0.892392	0.09791	N	0.755371	T	0.07324	0.0185	L	0.47716	1.5	0.09310	N	0.999997	B;B;P;P	0.38504	0.241;0.302;0.634;0.634	B;B;B;B	0.36766	0.08;0.124;0.232;0.232	T	0.35025	-0.9805	10	0.32370	T	0.25	-0.6246	6.248	0.20830	0.0:0.2752:0.1219:0.6028	.	1140;1134;1134;1134	Q8N4C6-5;C9J066;Q8N4C6;Q8N4C6-7	.;.;NIN_HUMAN;.	L	1134;1117;1140;1134;1134;1134	ENSP00000245441:Q1134L;ENSP00000371472:Q1134L;ENSP00000324210:Q1134L;ENSP00000412391:Q1134L	ENSP00000245441:Q1134L	Q	-	2	0	NIN	50294097	0.000000	0.05858	0.067000	0.19924	0.006000	0.05464	-0.480000	0.06559	-0.093000	0.12396	0.460000	0.39030	CAA	.	.		0.483	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946	
KTN1	3895	hgsc.bcm.edu	37	14	56113703	56113703	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr14:56113703G>A	ENST00000395314.3	+	19	2253	c.2185G>A	c.(2185-2187)Gtt>Att	p.V729I	KTN1_ENST00000416613.1_Missense_Mutation_p.V729I|KTN1_ENST00000413890.2_Missense_Mutation_p.V729I|KTN1_ENST00000438792.2_Missense_Mutation_p.V729I|KTN1_ENST00000395309.3_Missense_Mutation_p.V729I|KTN1_ENST00000395308.1_Missense_Mutation_p.V729I|KTN1_ENST00000395311.1_Missense_Mutation_p.V729I|KTN1_ENST00000554507.1_Missense_Mutation_p.V24I	NM_001079521.1	NP_001072989.1	Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	729					microtubule-based movement (GO:0007018)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						TAATAAGGATGTTGTGGAACA	0.244			T	RET	papillary thryoid																																p.V729I		Atlas-SNP	.		Dom	yes		14	14q22.1	3895	kinectin 1 (kinesin receptor)		E	.	KTN1	147	.	0			c.G2185A						.						92.0	92.0	92.0					14																	56113703		2202	4294	6496	SO:0001583	missense	3895	exon19			AAGGATGTTGTGG		CCDS41957.1, CCDS41958.1, CCDS41959.1	14q22.1	2008-05-02			ENSG00000126777	ENSG00000126777			6467	protein-coding gene	gene with protein product		600381				9605849	Standard	NM_001079521		Approved	KIAA0004, CG1	uc001xcc.3	Q86UP2	OTTHUMG00000140312	ENST00000395314.3:c.2185G>A	chr14.hg19:g.56113703G>A	ENSP00000378725:p.Val729Ile	57.0	0.0		43.0	34.0	NM_004986	B4DZ88|Q13999|Q14707|Q15387|Q17RZ5|Q5GGW3|Q86W57	Missense_Mutation	SNP	ENST00000395314.3	hg19	CCDS41957.1	.	.	.	.	.	.	.	.	.	.	G	13.09	2.133093	0.37630	.	.	ENSG00000126777	ENST00000413890;ENST00000395309;ENST00000438792;ENST00000395314;ENST00000395308;ENST00000395311;ENST00000416613;ENST00000554507;ENST00000554890	T;T;T;T;T;T;T;T	0.46451	1.47;1.47;1.46;1.47;1.47;1.47;1.47;0.87	4.48	3.59	0.41128	.	0.324151	0.22338	N	0.061361	T	0.27313	0.0670	N	0.25647	0.755	0.21762	N	0.999557	B;B;B;B;B	0.16603	0.002;0.002;0.018;0.001;0.005	B;B;B;B;B	0.15052	0.005;0.012;0.011;0.005;0.005	T	0.13361	-1.0512	10	0.36615	T	0.2	-3.9708	7.9107	0.29789	0.0886:0.0:0.7131:0.1983	.	729;24;729;729;729	B4DZ88;G3V4Y7;Q86UP2-2;Q17RZ5;Q86UP2	.;.;.;.;KTN1_HUMAN	I	729;729;729;729;729;729;729;24;24	ENSP00000394992:V729I;ENSP00000378720:V729I;ENSP00000391964:V729I;ENSP00000378725:V729I;ENSP00000378719:V729I;ENSP00000378722:V729I;ENSP00000388807:V729I;ENSP00000452073:V24I	ENSP00000378719:V729I	V	+	1	0	KTN1	55183456	0.936000	0.31750	1.000000	0.80357	0.997000	0.91878	0.170000	0.16663	1.232000	0.43678	0.585000	0.79938	GTT	.	.		0.244	KTN1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276912.2		
AP5M1	55745	hgsc.bcm.edu	37	14	57741303	57741303	+	Missense_Mutation	SNP	A	A	C			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr14:57741303A>C	ENST00000261558.3	+	2	822	c.416A>C	c.(415-417)cAg>cCg	p.Q139P	AP5M1_ENST00000431972.2_Missense_Mutation_p.Q153P	NM_018229.3	NP_060699.3	Q9H0R1	AP5M1_HUMAN	adaptor-related protein complex 5, mu 1 subunit	139					endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|cytosol (GO:0005829)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)											TTTGGGATACAGGATTTTCTT	0.408																																					p.Q139P		Atlas-SNP	.											.	.	.	.	0			c.A416C						.						55.0	58.0	57.0					14																	57741303		2203	4300	6503	SO:0001583	missense	55745	exon2			GGATACAGGATTT	AF094583	CCDS9729.1	14q22.2	2012-03-20	2012-03-20	2012-03-20	ENSG00000053770	ENSG00000053770			20192	protein-coding gene	gene with protein product	"""Mu-2 related death-inducing gene"""	614368	"""chromosome 14 open reading frame 108"", ""MU-2/AP1M2 domain containing, death-inducing"""	C14orf108, MUDENG		18395520	Standard	NM_018229		Approved	FLJ10813, MuD, mu5	uc001xcv.3	Q9H0R1	OTTHUMG00000140318	ENST00000261558.3:c.416A>C	chr14.hg19:g.57741303A>C	ENSP00000261558:p.Gln139Pro	78.0	0.0		65.0	47.0	NM_018229	O95354|Q6ZMD7|Q96DX3|Q9NVC5	Missense_Mutation	SNP	ENST00000261558.3	hg19	CCDS9729.1	.	.	.	.	.	.	.	.	.	.	A	13.52	2.261487	0.39995	.	.	ENSG00000053770	ENST00000261558;ENST00000556995;ENST00000431972	T;T	0.31769	1.49;1.48	5.78	4.51	0.55191	.	0.298284	0.38663	N	0.001608	T	0.29652	0.0740	L	0.43152	1.355	0.46185	D	0.998911	P;D	0.54964	0.536;0.969	B;P	0.47827	0.133;0.558	T	0.01617	-1.1311	10	0.36615	T	0.2	.	8.8224	0.35034	0.6433:0.0:0.0:0.3567	.	139;139	Q9H0R1;Q9H0R1-2	MUDEN_HUMAN;.	P	139;36;153	ENSP00000261558:Q139P;ENSP00000390531:Q153P	ENSP00000261558:Q139P	Q	+	2	0	MUDENG	56811056	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.333000	0.65917	2.333000	0.79357	0.482000	0.46254	CAG	.	.		0.408	AP5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276922.1	NM_018229	
ZFYVE26	23503	hgsc.bcm.edu	37	14	68219127	68219127	+	Silent	SNP	T	T	A			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr14:68219127T>A	ENST00000347230.4	-	40	7443	c.7305A>T	c.(7303-7305)gcA>gcT	p.A2435A	RN7SL213P_ENST00000463482.2_RNA|ZFYVE26_ENST00000557306.1_Silent_p.A281A	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	2435					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CACTTTTGGCTGCCATGCCTG	0.557																																					p.A2435A		Atlas-SNP	.											.	ZFYVE26	223	.	0			c.A7305T						.						111.0	70.0	84.0					14																	68219127		2203	4300	6503	SO:0001819	synonymous_variant	23503	exon40			TTTGGCTGCCATG	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.7305A>T	chr14.hg19:g.68219127T>A		72.0	0.0		72.0	43.0	NM_015346	B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Silent	SNP	ENST00000347230.4	hg19	CCDS9788.1																																																																																			.	.		0.557	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346	
JAG2	3714	hgsc.bcm.edu	37	14	105609336	105609336	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr14:105609336A>G	ENST00000331782.3	-	26	3816	c.3413T>C	c.(3412-3414)aTt>aCt	p.I1138T	JAG2_ENST00000347004.2_Missense_Mutation_p.I1100T	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	1138					auditory receptor cell fate commitment (GO:0009912)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|epithelial cell apoptotic process involved in palatal shelf morphogenesis (GO:1990134)|gamma-delta T cell differentiation (GO:0042492)|in utero embryonic development (GO:0001701)|morphogenesis of embryonic epithelium (GO:0016331)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|respiratory system process (GO:0003016)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|thymic T cell selection (GO:0045061)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		CGGCCGCTCAATGGGGTTGCG	0.721																																					p.I1138T		Atlas-SNP	.											.	JAG2	69	.	0			c.T3413C						.						17.0	21.0	20.0					14																	105609336		2169	4227	6396	SO:0001583	missense	3714	exon26			CGCTCAATGGGGT	AF020201	CCDS9998.1, CCDS9999.1	14q32	2008-08-01			ENSG00000184916	ENSG00000184916			6189	protein-coding gene	gene with protein product		602570				9315665, 10662552	Standard	NM_002226		Approved		uc001yqg.4	Q9Y219	OTTHUMG00000140172	ENST00000331782.3:c.3413T>C	chr14.hg19:g.105609336A>G	ENSP00000328169:p.Ile1138Thr	22.0	0.0		10.0	9.0	NM_002226	Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Missense_Mutation	SNP	ENST00000331782.3	hg19	CCDS9998.1	.	.	.	.	.	.	.	.	.	.	A	14.28	2.488000	0.44249	.	.	ENSG00000184916	ENST00000331782;ENST00000347004	D;D	0.87412	-2.22;-2.25	4.09	4.09	0.47781	.	0.340396	0.27080	N	0.021036	D	0.91395	0.7285	L	0.61218	1.895	0.40805	D	0.983373	D;D	0.76494	0.981;0.999	P;D	0.78314	0.795;0.991	D	0.92029	0.5632	10	0.59425	D	0.04	.	12.37	0.55250	1.0:0.0:0.0:0.0	.	1100;1138	Q9Y219-2;Q9Y219	.;JAG2_HUMAN	T	1138;1100	ENSP00000328169:I1138T;ENSP00000328566:I1100T	ENSP00000328169:I1138T	I	-	2	0	JAG2	104680381	0.729000	0.28090	0.995000	0.50966	0.290000	0.27261	1.478000	0.35442	1.713000	0.51359	0.402000	0.26972	ATT	.	.		0.721	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276506.2		
PLA2G4F	255189	hgsc.bcm.edu	37	15	42442915	42442915	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr15:42442915A>T	ENST00000382396.4	-	8	748	c.662T>A	c.(661-663)cTg>cAg	p.L221Q	PLA2G4F_ENST00000397272.3_Missense_Mutation_p.L221Q			Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	221					arachidonic acid secretion (GO:0050482)|cellular response to antibiotic (GO:0071236)|cellular response to organic cyclic compound (GO:0071407)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	calcium-dependent phospholipase A2 activity (GO:0047498)|lysophospholipase activity (GO:0004622)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		GGGAGGCTGCAGGGGCAAGAG	0.652																																					p.L221Q		Atlas-SNP	.											.	PLA2G4F	75	.	0			c.T662A						.						46.0	45.0	45.0					15																	42442915		2203	4299	6502	SO:0001583	missense	255189	exon8			GGCTGCAGGGGCA		CCDS32204.1	15q15.1	2008-09-19				ENSG00000168907	3.1.1.4		27396	protein-coding gene	gene with protein product						14702039, 15866882	Standard	NM_213600		Approved	PLA2G4F/Z	uc001zoz.3	Q68DD2		ENST00000382396.4:c.662T>A	chr15.hg19:g.42442915A>T	ENSP00000371833:p.Leu221Gln	62.0	0.0		45.0	11.0	NM_213600	Q6ZMC8	Missense_Mutation	SNP	ENST00000382396.4	hg19	CCDS32204.1	.	.	.	.	.	.	.	.	.	.	A	10.95	1.494551	0.26774	.	.	ENSG00000168907	ENST00000290497;ENST00000397272;ENST00000382396;ENST00000357924;ENST00000443825	T;T	0.01599	4.74;4.79	5.44	4.2	0.49525	.	0.788558	0.10772	N	0.635860	T	0.02047	0.0064	L	0.39898	1.24	0.26592	N	0.973173	B	0.29805	0.257	B	0.23419	0.046	T	0.37888	-0.9686	10	0.51188	T	0.08	-2.1656	7.604	0.28091	0.7673:0.0:0.0:0.2327	.	221	Q68DD2	PA24F_HUMAN	Q	217;221;221;221;221	ENSP00000380442:L221Q;ENSP00000371833:L221Q	ENSP00000290497:L217Q	L	-	2	0	PLA2G4F	40230207	0.271000	0.24162	1.000000	0.80357	0.166000	0.22503	0.890000	0.28295	2.212000	0.71576	0.529000	0.55759	CTG	.	.		0.652	PLA2G4F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000420463.1	NM_213600	
UNC13C	440279	hgsc.bcm.edu	37	15	54305537	54305537	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr15:54305537A>T	ENST00000260323.11	+	1	437	c.437A>T	c.(436-438)cAc>cTc	p.H146L	UNC13C_ENST00000545554.1_Missense_Mutation_p.H146L|UNC13C_ENST00000537900.1_Missense_Mutation_p.H146L	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	146					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CAATCAACACACACAATGCCA	0.468																																					p.H146L		Atlas-SNP	.											.	UNC13C	674	.	0			c.A437T						.						82.0	81.0	81.0					15																	54305537		2030	4186	6216	SO:0001583	missense	440279	exon1			CAACACACACAAT	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.437A>T	chr15.hg19:g.54305537A>T	ENSP00000260323:p.His146Leu	117.0	0.0		126.0	36.0	NM_001080534	Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	hg19	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	A	8.792	0.930707	0.18131	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.79141	-1.24;-1.24;-1.24	5.16	-1.81	0.07882	.	.	.	.	.	T	0.56717	0.2004	N	0.24115	0.695	0.29353	N	0.865229	B	0.02656	0.0	B	0.01281	0.0	T	0.45308	-0.9270	9	0.48119	T	0.1	.	0.8256	0.01120	0.466:0.1322:0.1466:0.2551	.	146	Q8NB66	UN13C_HUMAN	L	146	ENSP00000260323:H146L;ENSP00000438156:H146L;ENSP00000442569:H146L	ENSP00000260323:H146L	H	+	2	0	UNC13C	52092829	0.480000	0.25933	0.186000	0.23195	0.346000	0.29079	0.895000	0.28363	-0.263000	0.09378	0.533000	0.62120	CAC	.	.		0.468	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166	
ADAMTS7	11173	hgsc.bcm.edu	37	15	79066995	79066995	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr15:79066995A>T	ENST00000388820.4	-	12	2057	c.1847T>A	c.(1846-1848)cTg>cAg	p.L616Q	ADAMTS7_ENST00000566303.1_Intron	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	616	Cys-rich.				cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CCATGTGTGCAGCTGGCCCTT	0.637																																					p.L616Q		Atlas-SNP	.											.	ADAMTS7	142	.	0			c.T1847A						.						55.0	54.0	55.0					15																	79066995		2196	4291	6487	SO:0001583	missense	11173	exon12			GTGTGCAGCTGGC	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.1847T>A	chr15.hg19:g.79066995A>T	ENSP00000373472:p.Leu616Gln	36.0	0.0		12.0	5.0	NM_014272	Q14F51|Q6P7J9	Missense_Mutation	SNP	ENST00000388820.4	hg19	CCDS32303.1	.	.	.	.	.	.	.	.	.	.	A	14.15	2.449230	0.43531	.	.	ENSG00000136378	ENST00000388820	T	0.03951	3.75	3.61	0.836	0.18891	.	0.252100	0.32970	N	0.005426	T	0.04861	0.0131	L	0.53729	1.69	0.37090	D	0.899389	P;P	0.41929	0.609;0.765	B;B	0.37198	0.168;0.243	T	0.46857	-0.9161	10	0.40728	T	0.16	.	7.8919	0.29682	0.6764:0.0:0.0:0.3236	.	616;616	A8MQ00;Q9UKP4	.;ATS7_HUMAN	Q	616	ENSP00000373472:L616Q	ENSP00000373472:L616Q	L	-	2	0	ADAMTS7	76854050	1.000000	0.71417	0.773000	0.31616	0.966000	0.64601	5.687000	0.68219	0.524000	0.28502	0.240000	0.17902	CTG	.	.		0.637	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272	
RGMA	56963	hgsc.bcm.edu	37	15	93588391	93588391	+	Missense_Mutation	SNP	G	G	A	rs201783150		TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr15:93588391G>A	ENST00000329082.7	-	4	1461	c.1190C>T	c.(1189-1191)gCg>gTg	p.A397V	RGMA_ENST00000557301.1_Missense_Mutation_p.A405V|RGMA_ENST00000425933.2_Missense_Mutation_p.A381V|RGMA_ENST00000556658.1_Missense_Mutation_p.A288V|RGMA_ENST00000542321.2_Missense_Mutation_p.A381V|RGMA_ENST00000543599.1_Missense_Mutation_p.A381V|RGMA_ENST00000557420.1_3'UTR|RGMA_ENST00000538818.1_Missense_Mutation_p.A288V	NM_020211.2	NP_064596	Q96B86	RGMA_HUMAN	repulsive guidance molecule family member a	397					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|neural tube closure (GO:0001843)|regulation of BMP signaling pathway (GO:0030510)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	9	Lung NSC(78;0.0542)|all_lung(78;0.0786)		BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)			ATCCTCCAACGCGTAGTAGGC	0.612																																					p.A405V		Atlas-SNP	.											.	RGMA	49	.	0			c.C1214T						.						40.0	44.0	42.0					15																	93588391		2097	4240	6337	SO:0001583	missense	56963	exon4			TCCAACGCGTAGT	AL390083	CCDS45357.1, CCDS53973.1, CCDS53974.1	15q26.1	2013-11-06	2013-11-06			ENSG00000182175			30308	protein-coding gene	gene with protein product		607362	"""RGM domain family, member A"""			15975920	Standard	NM_020211		Approved	RGM, RGMa	uc010urc.2	Q96B86		ENST00000329082.7:c.1190C>T	chr15.hg19:g.93588391G>A	ENSP00000330005:p.Ala397Val	113.0	0.0		87.0	41.0	NM_001166283	B2RTW1|B7Z5S8|F5GXQ7|F5GZU6|G3V518|Q0JV97|Q8NC80|Q9H0E6|Q9NPM3	Missense_Mutation	SNP	ENST00000329082.7	hg19	CCDS45357.1	.	.	.	.	.	.	.	.	.	.	G	18.47	3.631302	0.67015	.	.	ENSG00000182175	ENST00000543599;ENST00000425933;ENST00000329082;ENST00000542321;ENST00000538818;ENST00000557301	D;D;D;D;D;D	0.90504	-2.68;-2.68;-2.68;-2.68;-2.68;-2.68	4.87	4.87	0.63330	Repulsive guidance molecule, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95915	0.8670	M	0.86502	2.82	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.96751	0.9554	10	0.87932	D	0	-11.6506	17.6076	0.88042	0.0:0.0:1.0:0.0	.	405;397	G3V518;Q96B86	.;RGMA_HUMAN	V	381;381;397;381;288;405	ENSP00000442498:A381V;ENSP00000404442:A381V;ENSP00000330005:A397V;ENSP00000440025:A381V;ENSP00000442546:A288V;ENSP00000452126:A405V	ENSP00000330005:A397V	A	-	2	0	RGMA	91389395	1.000000	0.71417	0.679000	0.29978	0.002000	0.02628	9.733000	0.98818	2.240000	0.73641	0.491000	0.48974	GCG	.	G|1.000;T|0.000		0.612	RGMA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000415091.1	NM_020211	
DOC2A	8448	hgsc.bcm.edu	37	16	30018203	30018203	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr16:30018203A>T	ENST00000350119.4	-	8	971	c.781T>A	c.(781-783)Tac>Aac	p.Y261N	DOC2A_ENST00000564944.1_Missense_Mutation_p.Y261N|DOC2A_ENST00000564979.1_Missense_Mutation_p.Y261N	NM_001282062.1|NM_001282063.1|NM_001282068.1|NM_003586.2	NP_001268991.1|NP_001268992.1|NP_001268997.1|NP_003577.2	Q14183	DOC2A_HUMAN	double C2-like domains, alpha	261	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.|Interaction with UNC13D.				nervous system development (GO:0007399)|regulation of calcium ion-dependent exocytosis (GO:0017158)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|lysosome (GO:0005764)|membrane (GO:0016020)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)	9						CGCGAGCTGTAGCTGAGACTC	0.677																																					p.Y261N		Atlas-SNP	.											.	DOC2A	40	.	0			c.T781A						.						27.0	30.0	29.0					16																	30018203		2197	4299	6496	SO:0001583	missense	8448	exon8			AGCTGTAGCTGAG	D31897	CCDS10666.1	16p11.2	2014-07-02			ENSG00000149927	ENSG00000149927		"""Synaptotagmins"""	2985	protein-coding gene	gene with protein product		604567				7826360, 9736751	Standard	NM_003586		Approved		uc002dvn.3	Q14183	OTTHUMG00000132109	ENST00000350119.4:c.781T>A	chr16.hg19:g.30018203A>T	ENSP00000340017:p.Tyr261Asn	109.0	0.0		92.0	53.0	NM_003586	B4DEJ2|H3BNH6|Q6P4G4|Q7Z5G0|Q8IVX0	Missense_Mutation	SNP	ENST00000350119.4	hg19	CCDS10666.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.459666	0.84317	.	.	ENSG00000149927	ENST00000350119	T	0.75367	-0.93	5.14	5.14	0.70334	C2 calcium/lipid-binding domain, CaLB (1);Synaptotagmin (1);	0.000000	0.49305	D	0.000148	D	0.90003	0.6879	H	0.96398	3.815	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92744	0.6210	10	0.87932	D	0	.	13.1768	0.59633	1.0:0.0:0.0:0.0	.	261	Q14183	DOC2A_HUMAN	N	261	ENSP00000340017:Y261N	ENSP00000340017:Y261N	Y	-	1	0	DOC2A	29925704	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	6.831000	0.75324	2.063000	0.61619	0.402000	0.26972	TAC	.	.		0.677	DOC2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255148.2	NM_003586	
ITGAD	3681	hgsc.bcm.edu	37	16	31429500	31429500	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr16:31429500T>A	ENST00000389202.2	+	21	2653	c.2604T>A	c.(2602-2604)caT>caA	p.H868Q		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	868					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CCATCTTCCATGAGGGCTCTA	0.567																																					p.H868Q		Atlas-SNP	.											.	ITGAD	154	.	0			c.T2604A						.						147.0	137.0	140.0					16																	31429500		2197	4300	6497	SO:0001583	missense	3681	exon21			CTTCCATGAGGGC	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"""CD molecules"", ""Integrins"""	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.2604T>A	chr16.hg19:g.31429500T>A	ENSP00000373854:p.His868Gln	71.0	0.0		96.0	26.0	NM_005353	Q15575|Q15576	Missense_Mutation	SNP	ENST00000389202.2	hg19	CCDS32438.1	.	.	.	.	.	.	.	.	.	.	T	8.519	0.868266	0.17250	.	.	ENSG00000156886	ENST00000444228;ENST00000389202	T	0.42131	0.98	5.06	-10.1	0.00402	Integrin alpha-2 (1);	.	.	.	.	T	0.15782	0.0380	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.11329	0.006;0.006	T	0.20107	-1.0285	9	0.34782	T	0.22	.	4.4444	0.11589	0.1102:0.0937:0.4046:0.3915	.	884;868	Q59H14;Q13349	.;ITAD_HUMAN	Q	884;868	ENSP00000373854:H868Q	ENSP00000373854:H868Q	H	+	3	2	ITGAD	31337001	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-2.169000	0.01269	-2.969000	0.00287	-1.392000	0.01152	CAT	.	.		0.567	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353	
ADAT1	23536	hgsc.bcm.edu	37	16	75642206	75642206	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr16:75642206G>A	ENST00000307921.3	-	9	1350	c.1205C>T	c.(1204-1206)gCa>gTa	p.A402V	RP11-77K12.8_ENST00000564489.1_RNA	NM_012091.3	NP_036223.2	Q9BUB4	ADAT1_HUMAN	adenosine deaminase, tRNA-specific 1	402	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				tRNA processing (GO:0008033)		metal ion binding (GO:0046872)|RNA binding (GO:0003723)|tRNA-specific adenosine deaminase activity (GO:0008251)			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)	19						CTCAGGAACTGCACTCCAGCT	0.398																																					p.A402V		Atlas-SNP	.											.	ADAT1	45	.	0			c.C1205T						.						153.0	140.0	144.0					16																	75642206		2198	4300	6498	SO:0001583	missense	23536	exon9			GGAACTGCACTCC	AF125188	CCDS10922.1	16q23	2008-02-05			ENSG00000065457	ENSG00000065457			228	protein-coding gene	gene with protein product		604230				10430867	Standard	NM_012091		Approved		uc002feo.2	Q9BUB4	OTTHUMG00000137611	ENST00000307921.3:c.1205C>T	chr16.hg19:g.75642206G>A	ENSP00000310015:p.Ala402Val	59.0	0.0		79.0	20.0	NM_012091	Q9NVB7|Q9UNG3	Missense_Mutation	SNP	ENST00000307921.3	hg19	CCDS10922.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.171620	0.78452	.	.	ENSG00000065457	ENST00000307921;ENST00000542252	D	0.93189	-3.18	5.41	5.41	0.78517	Adenosine deaminase/editase (3);	0.300277	0.36234	N	0.002703	D	0.92260	0.7545	L	0.42245	1.32	0.47009	D	0.999283	D	0.57899	0.981	P	0.50570	0.644	D	0.89808	0.3980	10	0.13853	T	0.58	0.2695	17.7735	0.88500	0.0:0.0:1.0:0.0	.	402	Q9BUB4	ADAT1_HUMAN	V	402;373	ENSP00000310015:A402V	ENSP00000310015:A402V	A	-	2	0	ADAT1	74199707	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.825000	0.75293	2.537000	0.85549	0.563000	0.77884	GCA	.	.		0.398	ADAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269027.1	NM_012091	
ARRB2	409	hgsc.bcm.edu	37	17	4619957	4619957	+	Intron	SNP	T	T	G			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr17:4619957T>G	ENST00000269260.2	+	5	590				ARRB2_ENST00000571206.1_Intron|ARRB2_ENST00000412477.3_Silent_p.S137S|ARRB2_ENST00000381488.6_Intron|ARRB2_ENST00000575877.1_Intron|ARRB2_ENST00000572457.1_Intron|ARRB2_ENST00000574954.1_Intron|ARRB2_ENST00000346341.2_Intron	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN	arrestin, beta 2						adult walking behavior (GO:0007628)|apoptotic DNA fragmentation (GO:0006309)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cell chemotaxis (GO:0060326)|desensitization of G-protein coupled receptor protein signaling pathway by arrestin (GO:0002032)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor internalization (GO:0002031)|negative regulation of GTPase activity (GO:0034260)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of tumor necrosis factor production (GO:0032720)|Notch signaling pathway (GO:0007219)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|receptor internalization (GO:0031623)|regulation of androgen receptor signaling pathway (GO:0060765)|transcription from RNA polymerase II promoter (GO:0006366)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	angiotensin receptor binding (GO:0031701)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)|ubiquitin protein ligase binding (GO:0031625)			large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						ggactgtgtctggggtggggg	0.632																																					p.S137S		Atlas-SNP	.											.	ARRB2	30	.	0			c.T411G						.																																			SO:0001627	intron_variant	409	exon5			TGTGTCTGGGGTG		CCDS11050.1, CCDS11051.1, CCDS58504.1, CCDS58505.1, CCDS59276.1	17p13	2008-12-11			ENSG00000141480	ENSG00000141480			712	protein-coding gene	gene with protein product	"""arrestin 3"""	107941		ARR2		7695743	Standard	NM_001257329		Approved	BARR2, DKFZp686L0365	uc002fyl.3	P32121	OTTHUMG00000090759	ENST00000269260.2:c.357+54T>G	chr17.hg19:g.4619957T>G		30.0	0.0		24.0	12.0	NM_001257328	B4DLW0|B5B0C0|B7WPL3|D3DTK2|H0Y688|Q0Z8D3|Q2PP19|Q6ICT3|Q8N7Y2|Q9UEQ6	Silent	SNP	ENST00000269260.2	hg19	CCDS11050.1																																																																																			.	.		0.632	ARRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439552.1	NM_004313	
DNAH2	146754	hgsc.bcm.edu	37	17	7643760	7643760	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr17:7643760C>A	ENST00000572933.1	+	10	2859	c.1399C>A	c.(1399-1401)Ctg>Atg	p.L467M	DNAH2_ENST00000570791.1_Missense_Mutation_p.L549M|DNAH2_ENST00000082259.3_Missense_Mutation_p.L549M|DNAH2_ENST00000389173.2_Missense_Mutation_p.L467M			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	467	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(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AATCAAGGACCTGGAGGTGAT	0.627																																					p.L467M		Atlas-SNP	.											.	DNAH2	498	.	0			c.C1399A						.						134.0	114.0	121.0					17																	7643760		2203	4300	6503	SO:0001583	missense	146754	exon9			AAGGACCTGGAGG	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.1399C>A	chr17.hg19:g.7643760C>A	ENSP00000458355:p.Leu467Met	106.0	0.0		59.0	49.0	NM_020877	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	hg19	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	C	17.79	3.476102	0.63737	.	.	ENSG00000183914	ENST00000360606;ENST00000389173;ENST00000082259	T;T	0.65549	-0.16;-0.16	4.18	2.12	0.27331	Dynein heavy chain, domain-1 (1);	0.092996	0.44688	D	0.000436	T	0.77130	0.4085	M	0.87682	2.9	0.26338	N	0.977408	B;D	0.76494	0.373;0.999	P;D	0.72075	0.688;0.976	T	0.66027	-0.6025	10	0.52906	T	0.07	.	8.2135	0.31496	0.0:0.7285:0.0:0.2715	.	467;549	Q9P225;Q9P225-3	DYH2_HUMAN;.	M	467;467;549	ENSP00000373825:L467M;ENSP00000082259:L549M	ENSP00000082259:L549M	L	+	1	2	DNAH2	7584485	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	2.496000	0.45346	0.995000	0.38917	-0.476000	0.04901	CTG	.	.		0.627	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877	
MYH4	4622	hgsc.bcm.edu	37	17	10348322	10348322	+	Missense_Mutation	SNP	T	T	G			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr17:10348322T>G	ENST00000255381.2	-	37	5547	c.5437A>C	c.(5437-5439)Aag>Cag	p.K1813Q	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1813					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						ATCTGCTTCTTCCCACCCTTC	0.552																																					p.K1813Q		Atlas-SNP	.											.	MYH4	349	.	0			c.A5437C						.						161.0	155.0	157.0					17																	10348322		2203	4300	6503	SO:0001583	missense	4622	exon37			GCTTCTTCCCACC		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.5437A>C	chr17.hg19:g.10348322T>G	ENSP00000255381:p.Lys1813Gln	91.0	0.0		76.0	57.0	NM_017533		Missense_Mutation	SNP	ENST00000255381.2	hg19	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	T	26.4	4.731834	0.89390	.	.	ENSG00000141048	ENST00000255381	D	0.82526	-1.62	5.5	5.5	0.81552	Myosin tail (1);	0.000000	0.39146	U	0.001450	D	0.92541	0.7631	M	0.90369	3.11	0.52501	D	0.999951	D	0.89917	1.0	D	0.80764	0.994	D	0.94011	0.7284	10	0.87932	D	0	.	15.8867	0.79255	0.0:0.0:0.0:1.0	.	1813	Q9Y623	MYH4_HUMAN	Q	1813	ENSP00000255381:K1813Q	ENSP00000255381:K1813Q	K	-	1	0	MYH4	10289047	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	7.994000	0.88315	2.214000	0.71695	0.482000	0.46254	AAG	.	.		0.552	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533	
MYOCD	93649	hgsc.bcm.edu	37	17	12569544	12569544	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr17:12569544G>T	ENST00000343344.4	+	1	39	c.39G>T	c.(37-39)agG>agT	p.R13S	MYOCD_ENST00000425538.1_Missense_Mutation_p.R13S			Q8IZQ8	MYCD_HUMAN	myocardin	13					cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		TGCTGATTAGGAGCAAGTTCA	0.488																																					p.R13S		Atlas-SNP	.											.	MYOCD	291	.	0			c.G39T						.						97.0	81.0	87.0					17																	12569544		2203	4300	6503	SO:0001583	missense	93649	exon1			GATTAGGAGCAAG	AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.39G>T	chr17.hg19:g.12569544G>T	ENSP00000341835:p.Arg13Ser	77.0	0.0		46.0	39.0	NM_001146312	Q5UBU5|Q8N7Q1	Missense_Mutation	SNP	ENST00000343344.4	hg19	CCDS11163.1	.	.	.	.	.	.	.	.	.	.	G	13.58	2.278333	0.40294	.	.	ENSG00000141052	ENST00000425538;ENST00000343344	T	0.50277	0.75	4.84	1.56	0.23342	.	0.068719	0.64402	D	0.000019	T	0.43500	0.1250	L	0.52364	1.645	0.80722	D	1	P;P	0.45827	0.867;0.79	P;B	0.48030	0.564;0.36	T	0.19910	-1.0291	10	0.46703	T	0.11	-1.799	5.807	0.18446	0.4614:0.0:0.5386:0.0	.	13;13	Q8IZQ8-3;Q8IZQ8	.;MYCD_HUMAN	S	13	ENSP00000341835:R13S	ENSP00000341835:R13S	R	+	3	2	MYOCD	12510269	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.177000	0.31969	0.113000	0.18004	0.563000	0.77884	AGG	.	.		0.488	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604	
RAPGEFL1	51195	hgsc.bcm.edu	37	17	38348509	38348509	+	Silent	SNP	C	C	T			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr17:38348509C>T	ENST00000456989.2	+	11	1243	c.1197C>T	c.(1195-1197)aaC>aaT	p.N399N	RAPGEFL1_ENST00000436615.3_Silent_p.N344N|RAPGEFL1_ENST00000544503.1_Silent_p.N393N|RAPGEFL1_ENST00000264644.6_Silent_p.N344N			Q9UHV5	RPGFL_HUMAN	Rap guanine nucleotide exchange factor (GEF)-like 1	550					G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						AATTTGAGAACCTGACGGTGA	0.483																																					p.N344N	Esophageal Squamous(28;274 750 6870 14218 42203)	Atlas-SNP	.											.	RAPGEFL1	31	.	0			c.C1032T						.						172.0	176.0	175.0					17																	38348509		2203	4300	6503	SO:0001819	synonymous_variant	51195	exon11			TGAGAACCTGACG	AF117946	CCDS11363.1	17q21.2	2006-08-01	2004-03-26		ENSG00000108352	ENSG00000108352			17428	protein-coding gene	gene with protein product	"""Link guanine nucleotide exchange factor II"""		"""RAP guanine-nucleotide-exchange factor (GEF)-like 1"""				Standard	NM_016339		Approved	Link-GEFII	uc010cwu.1	Q9UHV5	OTTHUMG00000133325	ENST00000456989.2:c.1197C>T	chr17.hg19:g.38348509C>T		70.0	0.0		42.0	5.0	NM_016339		Silent	SNP	ENST00000456989.2	hg19																																																																																				.	.		0.483	RAPGEFL1-005	PUTATIVE	non_canonical_conserved|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000397518.1	NM_016339	
KRT12	3859	hgsc.bcm.edu	37	17	39022937	39022937	+	Missense_Mutation	SNP	T	T	A	rs377161982		TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr17:39022937T>A	ENST00000251643.4	-	1	525	c.502A>T	c.(502-504)Act>Tct	p.T168S		NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	168	Linker 1.|Rod.				visual perception (GO:0007601)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)			Griseofulvin(DB00400)	GCATCTGCAGTCCCAGTTCCT	0.413																																					p.T168S		Atlas-SNP	.											.	KRT12	53	.	0			c.A502T						.						128.0	129.0	129.0					17																	39022937		2203	4300	6503	SO:0001583	missense	3859	exon1			CTGCAGTCCCAGT		CCDS11378.1	17q21.2	2013-06-20	2008-08-01		ENSG00000187242	ENSG00000187242		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6414	protein-coding gene	gene with protein product	"""Meesmann corneal dystrophy"""	601687				9171831, 16831889	Standard	NM_000223		Approved	K12	uc002hvk.2	Q99456	OTTHUMG00000133369	ENST00000251643.4:c.502A>T	chr17.hg19:g.39022937T>A	ENSP00000251643:p.Thr168Ser	104.0	0.0		98.0	47.0	NM_000223	B2R9E0	Missense_Mutation	SNP	ENST00000251643.4	hg19	CCDS11378.1	.	.	.	.	.	.	.	.	.	.	T	0.017	-1.491964	0.01009	.	.	ENSG00000187242	ENST00000251643	D	0.85773	-2.03	5.84	-4.44	0.03557	Filament (1);	0.389002	0.22096	N	0.064683	T	0.54743	0.1877	N	0.04203	-0.255	0.09310	N	1	B	0.10296	0.003	B	0.12837	0.008	T	0.57283	-0.7838	10	0.02654	T	1	.	3.9266	0.09267	0.0907:0.3747:0.2345:0.3002	.	168	Q99456	K1C12_HUMAN	S	168	ENSP00000251643:T168S	ENSP00000251643:T168S	T	-	1	0	KRT12	36276463	.	.	0.000000	0.03702	0.247000	0.25773	.	.	-1.026000	0.03330	-0.274000	0.10170	ACT	.	.		0.413	KRT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257214.2	NM_000223	
KCNH4	23415	hgsc.bcm.edu	37	17	40330402	40330402	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr17:40330402T>A	ENST00000264661.3	-	3	736	c.404A>T	c.(403-405)cAg>cTg	p.Q135L	KCNH4_ENST00000607371.1_Missense_Mutation_p.Q135L	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	135	PAC. {ECO:0000255|PROSITE- ProRule:PRU00141}.				potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GCTTCCACTCTGAGTGATATC	0.567																																					p.Q135L	NSCLC(117;707 1703 2300 21308 31858)	Atlas-SNP	.											.	KCNH4	105	.	0			c.A404T						.						50.0	44.0	46.0					17																	40330402		2203	4300	6503	SO:0001583	missense	23415	exon3			CCACTCTGAGTGA	AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.404A>T	chr17.hg19:g.40330402T>A	ENSP00000264661:p.Gln135Leu	117.0	0.0		91.0	37.0	NM_012285		Missense_Mutation	SNP	ENST00000264661.3	hg19	CCDS11420.1	.	.	.	.	.	.	.	.	.	.	T	14.61	2.585567	0.46110	.	.	ENSG00000089558	ENST00000264661	D	0.99563	-6.17	4.99	3.89	0.44902	PAS-associated, C-terminal (1);PAS (1);	0.000000	0.38720	N	0.001588	D	0.98074	0.9365	L	0.34521	1.04	0.37116	D	0.900564	B	0.17465	0.022	B	0.25759	0.063	D	0.99748	1.1017	10	0.28530	T	0.3	.	12.1128	0.53848	0.0:0.0:0.1433:0.8567	.	135	Q9UQ05	KCNH4_HUMAN	L	135	ENSP00000264661:Q135L	ENSP00000264661:Q135L	Q	-	2	0	KCNH4	37583928	0.008000	0.16893	1.000000	0.80357	0.693000	0.40251	1.141000	0.31528	0.886000	0.36113	0.460000	0.39030	CAG	.	.		0.567	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2	NM_012285	
TRIM47	91107	hgsc.bcm.edu	37	17	73871178	73871178	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr17:73871178C>T	ENST00000254816.2	-	6	1329	c.1303G>A	c.(1303-1305)Gac>Aac	p.D435N	RP11-552F3.9_ENST00000586076.1_RNA|TRIM47_ENST00000587339.1_Missense_Mutation_p.D197N	NM_033452.2	NP_258411.2	Q96LD4	TRI47_HUMAN	tripartite motif containing 47	435	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22			Epithelial(20;4.23e-06)|all cancers(21;5.24e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			TCTGCTGTGTCGCTGTCCAAA	0.577																																					p.D435N		Atlas-SNP	.											.	TRIM47	40	.	0			c.G1303A						.						58.0	63.0	61.0					17																	73871178		2202	4298	6500	SO:0001583	missense	91107	exon6			CTGTGTCGCTGTC	AY026763	CCDS32737.1	17q25	2013-01-09	2011-01-25			ENSG00000132481		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19020	protein-coding gene	gene with protein product		611041	"""tripartite motif-containing 47"""				Standard	NM_033452		Approved	GOA, RNF100	uc002jpw.3	Q96LD4		ENST00000254816.2:c.1303G>A	chr17.hg19:g.73871178C>T	ENSP00000254816:p.Asp435Asn	42.0	0.0		146.0	12.0	NM_033452	Q96AD0|Q96GU5|Q9BRN7	Missense_Mutation	SNP	ENST00000254816.2	hg19	CCDS32737.1	.	.	.	.	.	.	.	.	.	.	C	8.746	0.920131	0.17982	.	.	ENSG00000132481	ENST00000254816	T	0.59502	0.26	5.18	5.18	0.71444	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);B30.2/SPRY domain (1);	0.000000	0.64402	D	0.000004	T	0.24586	0.0596	N	0.04669	-0.19	0.41135	D	0.985919	P	0.39601	0.68	B	0.26094	0.066	T	0.44847	-0.9301	10	0.02654	T	1	.	12.0839	0.53686	0.0:0.9211:0.0:0.0789	.	435	Q96LD4	TRI47_HUMAN	N	435	ENSP00000254816:D435N	ENSP00000254816:D435N	D	-	1	0	TRIM47	71382773	1.000000	0.71417	0.940000	0.37924	0.365000	0.29674	4.371000	0.59523	2.426000	0.82243	0.561000	0.74099	GAC	.	.		0.577	TRIM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448934.1		
QRICH2	84074	hgsc.bcm.edu	37	17	74288478	74288478	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr17:74288478T>C	ENST00000262765.5	-	4	2011	c.1832A>G	c.(1831-1833)gAt>gGt	p.D611G		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	611	Gln-rich.									breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						ACCATGCTGATCCACTCCAGG	0.542																																					p.D611G		Atlas-SNP	.											.	QRICH2	143	.	0			c.A1832G						.						154.0	127.0	136.0					17																	74288478		2203	4300	6503	SO:0001583	missense	84074	exon4			TGCTGATCCACTC	AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.1832A>G	chr17.hg19:g.74288478T>C	ENSP00000262765:p.Asp611Gly	77.0	0.0		138.0	10.0	NM_032134	A2RRE1|Q96LM3	Missense_Mutation	SNP	ENST00000262765.5	hg19	CCDS32741.1	.	.	.	.	.	.	.	.	.	.	T	1.387	-0.581946	0.03827	.	.	ENSG00000129646	ENST00000262765;ENST00000301613	T	0.19250	2.16	4.74	-9.49	0.00587	.	.	.	.	.	T	0.02767	0.0083	N	0.00170	-1.935	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.0	T	0.40979	-0.9534	9	0.23302	T	0.38	0.4676	2.1613	0.03826	0.4626:0.2469:0.1587:0.1318	.	611;611	B5MD94;Q9H0J4	.;QRIC2_HUMAN	G	611	ENSP00000262765:D611G	ENSP00000262765:D611G	D	-	2	0	QRICH2	71800073	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-5.117000	0.00149	-4.204000	0.00065	-2.487000	0.00196	GAT	.	.		0.542	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1	NM_032134	
RAC3	5881	hgsc.bcm.edu	37	17	79991460	79991460	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr17:79991460A>T	ENST00000306897.4	+	5	571	c.433A>T	c.(433-435)Atg>Ttg	p.M145L	DCXR_ENST00000584318.1_5'Flank	NM_005052.2	NP_005043.1	P60763	RAC3_HUMAN	ras-related C3 botulinum toxin substrate 3 (rho family, small GTP binding protein Rac3)	145					actin cytoskeleton organization (GO:0030036)|cell projection assembly (GO:0030031)|GTP catabolic process (GO:0006184)|intracellular signal transduction (GO:0035556)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|kidney(1)|skin(1)	3	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			GGGCCTGGCCATGGCCCGGGA	0.682																																					p.M145L		Atlas-SNP	.											.	RAC3	8	.	0			c.A433T						.						38.0	41.0	40.0					17																	79991460		2200	4298	6498	SO:0001583	missense	5881	exon5			CTGGCCATGGCCC	AF008591	CCDS11798.1	17q25.3	2014-01-30				ENSG00000169750		"""Endogenous ligands"""	9803	protein-coding gene	gene with protein product		602050					Standard	NM_005052		Approved		uc002kdf.3	P60763		ENST00000306897.4:c.433A>T	chr17.hg19:g.79991460A>T	ENSP00000304283:p.Met145Leu	75.0	0.0		375.0	17.0	NM_005052	O14658|Q5U0M8	Missense_Mutation	SNP	ENST00000306897.4	hg19	CCDS11798.1	.	.	.	.	.	.	.	.	.	.	a	8.380	0.837225	0.16891	.	.	ENSG00000169750	ENST00000306897	T	0.65732	-0.17	3.64	3.64	0.41730	.	0.100706	0.64402	D	0.000003	T	0.35595	0.0937	N	0.03983	-0.305	0.58432	D	0.999999	B	0.02656	0.0	B	0.14578	0.011	T	0.14448	-1.0472	9	.	.	.	.	12.4244	0.55538	1.0:0.0:0.0:0.0	.	145	P60763	RAC3_HUMAN	L	145	ENSP00000304283:M145L	.	M	+	1	0	RAC3	77584749	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	7.105000	0.77031	1.504000	0.48704	0.478000	0.44815	ATG	.	.		0.682	RAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442064.1		
TUBB6	84617	hgsc.bcm.edu	37	18	12310993	12310993	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr18:12310993T>A	ENST00000317702.5	+	3	452	c.218T>A	c.(217-219)aTg>aAg	p.M73K	TUBB6_ENST00000590967.1_Missense_Mutation_p.M73K|TUBB6_ENST00000591208.1_Missense_Mutation_p.M73K|TUBB6_ENST00000586653.1_Missense_Mutation_p.M73K|TUBB6_ENST00000592683.1_Missense_Mutation_p.M73K|TUBB6_ENST00000591909.1_Missense_Mutation_p.M73K			Q9BUF5	TBB6_HUMAN	tubulin, beta 6 class V	73					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14				READ - Rectum adenocarcinoma(1;0.0649)		CCAGGCACCATGGACAGCGTG	0.493																																					p.M73K		Atlas-SNP	.											.	TUBB6	35	.	0			c.T218A						.						89.0	80.0	83.0					18																	12310993		2203	4300	6503	SO:0001583	missense	84617	exon3			GCACCATGGACAG	AK001295	CCDS11858.1	18p11.21	2011-10-10	2011-10-10		ENSG00000176014	ENSG00000176014		"""Tubulins"""	20776	protein-coding gene	gene with protein product	"""tubulin beta MGC4083"", ""class V beta-tubulin"""	615103	"""tubulin, beta 6"""			12477932	Standard	NM_032525		Approved	MGC4083, HsT1601	uc002kqw.3	Q9BUF5	OTTHUMG00000131692	ENST00000317702.5:c.218T>A	chr18.hg19:g.12310993T>A	ENSP00000318697:p.Met73Lys	78.0	0.0		96.0	44.0	NM_032525	B3KM76|Q9HA42	Missense_Mutation	SNP	ENST00000317702.5	hg19	CCDS11858.1	.	.	.	.	.	.	.	.	.	.	T	19.61	3.860743	0.71834	.	.	ENSG00000176014	ENST00000317702;ENST00000417736;ENST00000445717	T	0.70045	-0.45	4.82	4.82	0.62117	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.85682	D	0.000000	D	0.84705	0.5531	M	0.93939	3.475	0.80722	D	1	P	0.48162	0.906	P	0.61275	0.886	D	0.88744	0.3245	10	0.87932	D	0	.	14.5111	0.67787	0.0:0.0:0.0:1.0	.	73	Q9BUF5	TBB6_HUMAN	K	73;1;73	ENSP00000318697:M73K	ENSP00000318697:M73K	M	+	2	0	TUBB6	12300993	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.504000	0.81646	2.150000	0.67090	0.533000	0.62120	ATG	.	.		0.493	TUBB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254600.2	NM_032525	
LAMA3	3909	hgsc.bcm.edu	37	18	21474874	21474874	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr18:21474874G>A	ENST00000313654.9	+	44	5706	c.5465G>A	c.(5464-5466)tGc>tAc	p.C1822Y	LAMA3_ENST00000399516.3_Missense_Mutation_p.C1822Y|LAMA3_ENST00000269217.6_Missense_Mutation_p.C213Y|AC010754.1_ENST00000408462.1_RNA|LAMA3_ENST00000587184.1_Missense_Mutation_p.C213Y	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1822	Domain II and I.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					CCTACAGATTGCGACAGCTGT	0.612																																					p.C1822Y		Atlas-SNP	.											.	LAMA3	397	.	0			c.G5465A						.						65.0	54.0	58.0					18																	21474874		2203	4300	6503	SO:0001583	missense	3909	exon44			CAGATTGCGACAG	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.5465G>A	chr18.hg19:g.21474874G>A	ENSP00000324532:p.Cys1822Tyr	38.0	0.0		52.0	14.0	NM_001127717	B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	hg19	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.501709	0.85176	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	T;T;T	0.35421	1.31;1.49;2.68	5.91	5.91	0.95273	.	.	.	.	.	T	0.67655	0.2916	M	0.86651	2.83	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;1.0	D;D;D;D	0.91635	0.996;0.997;0.999;0.999	T	0.71613	-0.4540	9	0.72032	D	0.01	.	19.0696	0.93127	0.0:0.0:1.0:0.0	.	213;213;1822;1822	Q6VU69;B0YJ33;Q6VU67;Q16787	.;.;.;LAMA3_HUMAN	Y	1822;1822;213	ENSP00000324532:C1822Y;ENSP00000382432:C1822Y;ENSP00000269217:C213Y	ENSP00000269217:C213Y	C	+	2	0	LAMA3	19728872	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.310000	0.78947	2.803000	0.96430	0.655000	0.94253	TGC	.	.		0.612	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129	
KIAA1328	57536	hgsc.bcm.edu	37	18	34752988	34752988	+	Silent	SNP	A	A	C			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr18:34752988A>C	ENST00000280020.5	+	9	1489	c.1467A>C	c.(1465-1467)ggA>ggC	p.G489G	KIAA1328_ENST00000543923.1_Silent_p.G381G|KIAA1328_ENST00000586135.1_Silent_p.G241G|KIAA1328_ENST00000591619.1_Silent_p.G485G|KIAA1328_ENST00000435985.2_Silent_p.G241G	NM_020776.1	NP_065827.1	Q86T90	K1328_HUMAN	KIAA1328	489										central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14				COAD - Colon adenocarcinoma(74;0.195)		TGCCAACAGGAAGCCTAAAGG	0.388																																					p.G489G		Atlas-SNP	.											.	KIAA1328	39	.	0			c.A1467C						.						143.0	150.0	148.0					18																	34752988		2031	4196	6227	SO:0001819	synonymous_variant	57536	exon9			AACAGGAAGCCTA	AB037749	CCDS45855.1	18q12.2	2011-12-12			ENSG00000150477	ENSG00000150477			29248	protein-coding gene	gene with protein product						10718198	Standard	XM_005258317		Approved		uc002kzz.3	Q86T90		ENST00000280020.5:c.1467A>C	chr18.hg19:g.34752988A>C		89.0	0.0		95.0	9.0	NM_020776	Q05DL0|Q49AG6|Q9P2L8	Silent	SNP	ENST00000280020.5	hg19	CCDS45855.1																																																																																			.	.		0.388	KIAA1328-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440455.1	NM_020776	
LOXHD1	125336	hgsc.bcm.edu	37	18	44140460	44140460	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr18:44140460T>A	ENST00000398722.4	-	12	1812	c.1813A>T	c.(1813-1815)Acg>Tcg	p.T605S	LOXHD1_ENST00000441893.2_5'Flank|LOXHD1_ENST00000582408.1_5'Flank|LOXHD1_ENST00000536736.1_Missense_Mutation_p.T883S|LOXHD1_ENST00000441551.2_Intron|LOXHD1_ENST00000300591.6_5'Flank			Q8IVV2	LOXH1_HUMAN	lipoxygenase homology domains 1	605	PLAT 5. {ECO:0000255|PROSITE- ProRule:PRU00152}.				calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|sensory perception of sound (GO:0007605)	membrane (GO:0016020)|stereocilium (GO:0032420)	calcium channel activity (GO:0005262)			NS(3)|autonomic_ganglia(1)|breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(2)|pancreas(1)|prostate(4)|skin(4)|stomach(1)	36						CCCTCGCCCGTGTGCCCGAGC	0.701																																					p.T883S		Atlas-SNP	.											.	LOXHD1	367	.	0			c.A2647T						.						25.0	24.0	25.0					18																	44140460		692	1591	2283	SO:0001583	missense	125336	exon19			CGCCCGTGTGCCC	AK057232	CCDS45861.1, CCDS45862.1, CCDS54184.1	18q21.1	2009-09-11			ENSG00000167210	ENSG00000167210			26521	protein-coding gene	gene with protein product		613072	"""deafness, autosomal recessive 77"""	DFNB77		19732867	Standard	NM_144612		Approved	FLJ32670, LH2D1	uc010xcw.1	Q8IVV2	OTTHUMG00000132644	ENST00000398722.4:c.1813A>T	chr18.hg19:g.44140460T>A	ENSP00000381707:p.Thr605Ser	658.0	0.0		727.0	219.0	NM_144612	B7WNN3|B7WNT1|B7WPI9|Q6ZRY7|Q86WW9|Q96DL7	Missense_Mutation	SNP	ENST00000398722.4	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.65|11.65	1.701417|1.701417	0.30142|0.30142	.|.	.|.	ENSG00000167210|ENSG00000167210	ENST00000441551|ENST00000398722;ENST00000536736;ENST00000335730	.|T;T	.|0.28069	.|1.63;1.63	5.36|5.36	4.13|4.13	0.48395|0.48395	.|.	.|0.214212	.|0.46758	.|D	.|0.000275	T|T	0.14917|0.14917	0.0360|0.0360	N|N	0.13235|0.13235	0.315|0.315	0.80722|0.80722	D|D	1|1	.|B;B	.|0.16603	.|0.007;0.018	.|B;B	.|0.14578	.|0.007;0.011	T|T	0.14090|0.14090	-1.0485|-1.0485	6|10	0.87932|0.56958	D|D	0|0.05	.|.	2.3079|2.3079	0.04179|0.04179	0.2175:0.1984:0.0:0.5842|0.2175:0.1984:0.0:0.5842	.|.	.|883;605	.|F5GZB4;Q8IVV2-2	.|.;.	L|S	863|605;883;605	.|ENSP00000381707:T605S;ENSP00000444586:T883S	ENSP00000387621:H863L|ENSP00000338222:T605S	H|T	-|-	2|1	0|0	LOXHD1|LOXHD1	42394458|42394458	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.801000|0.801000	0.45260|0.45260	3.814000|3.814000	0.55643|0.55643	2.035000|2.035000	0.60131|0.60131	0.386000|0.386000	0.25728|0.25728	CAC|ACG	.	.		0.701	LOXHD1-201	KNOWN	basic	protein_coding	protein_coding		NM_144612	
PHLPP1	23239	hgsc.bcm.edu	37	18	60642658	60642658	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr18:60642658G>A	ENST00000262719.5	+	16	4018	c.3784G>A	c.(3784-3786)Ggt>Agt	p.G1262S	PHLPP1_ENST00000400316.4_Missense_Mutation_p.G750S			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1262	PP2C-like.				apoptotic process (GO:0006915)|entrainment of circadian clock (GO:0009649)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			endometrium(2)|kidney(2)|lung(13)	17						GCAGAAGCTTGGTGGTGCCGC	0.517																																					p.G1262S		Atlas-SNP	.											.	PHLPP1	164	.	0			c.G3784A						.						139.0	134.0	136.0					18																	60642658		2032	4181	6213	SO:0001583	missense	23239	exon16			AAGCTTGGTGGTG	AB011178	CCDS45881.1, CCDS45881.2	18q21.32	2013-01-11	2009-05-26	2009-05-26	ENSG00000081913	ENSG00000081913		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	20610	protein-coding gene	gene with protein product		609396	"""pleckstrin homology domain containing, family E (with leucine rich repeats) member 1"", ""PH domain and leucine rich repeat protein phosphatase"""	PLEKHE1, PHLPP		10570941, 15808505	Standard	NM_194449		Approved	KIAA0606, SCOP	uc021ule.1	O60346	OTTHUMG00000150629	ENST00000262719.5:c.3784G>A	chr18.hg19:g.60642658G>A	ENSP00000262719:p.Gly1262Ser	56.0	0.0		83.0	25.0	NM_194449	A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	Missense_Mutation	SNP	ENST00000262719.5	hg19	CCDS45881.2	.	.	.	.	.	.	.	.	.	.	G	36	5.621017	0.96660	.	.	ENSG00000081913	ENST00000400316;ENST00000262719	T;T	0.68181	-0.31;-0.31	5.28	5.28	0.74379	Protein phosphatase 2C-like (4);	.	.	.	.	T	0.81351	0.4804	M	0.73372	2.23	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78996	-0.1983	9	0.36615	T	0.2	-13.4424	19.1036	0.93283	0.0:0.0:1.0:0.0	.	1262	O60346	PHLP1_HUMAN	S	750;1262	ENSP00000383170:G750S;ENSP00000262719:G1262S	ENSP00000262719:G1262S	G	+	1	0	PHLPP1	58793638	1.000000	0.71417	0.993000	0.49108	0.806000	0.45545	9.623000	0.98386	2.751000	0.94390	0.555000	0.69702	GGT	.	.		0.517	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319249.2	NM_194449	
SERPINB13	5275	hgsc.bcm.edu	37	18	61256029	61256029	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr18:61256029T>A	ENST00000344731.5	+	2	230	c.128T>A	c.(127-129)cTg>cAg	p.L43Q	SERPINB13_ENST00000269489.5_Missense_Mutation_p.L43Q	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	43					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						ATGGTCCTCCTGGGGACCCGA	0.527																																					p.L43Q		Atlas-SNP	.											.	SERPINB13	51	.	0			c.T128A						.						59.0	60.0	60.0					18																	61256029		2203	4300	6503	SO:0001583	missense	5275	exon2			TCCTCCTGGGGAC	AF169949, BC101821	CCDS11985.1	18q21.33	2014-02-18	2005-08-18		ENSG00000197641	ENSG00000197641		"""Serine (or cysteine) peptidase inhibitors"""	8944	protein-coding gene	gene with protein product		604445	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 13"""	PI13		9297979, 10512713, 24172014	Standard	NM_012397		Approved	HUR7, hurpin, headpin	uc002ljc.3	Q9UIV8	OTTHUMG00000060406	ENST00000344731.5:c.128T>A	chr18.hg19:g.61256029T>A	ENSP00000341584:p.Leu43Gln	41.0	0.0		48.0	27.0	NM_012397	A8K2Q8|Q3MII2|Q9HCX1|Q9UBW1|Q9UKG0	Missense_Mutation	SNP	ENST00000344731.5	hg19	CCDS11985.1	.	.	.	.	.	.	.	.	.	.	T	15.03	2.711990	0.48517	.	.	ENSG00000197641	ENST00000431153;ENST00000269489;ENST00000539341;ENST00000344731;ENST00000415733	D;D;D;D	0.86865	-2.18;-2.18;-2.03;-2.03	4.89	-0.357	0.12579	Serpin domain (3);	1.234140	0.05976	N	0.643329	D	0.91744	0.7389	M	0.79123	2.44	0.09310	N	0.999998	D;P	0.65815	0.995;0.484	D;P	0.67725	0.953;0.557	T	0.78008	-0.2372	10	0.87932	D	0	.	5.5245	0.16951	0.0:0.2216:0.1346:0.6438	.	43;43	B7ZKV6;Q9UIV8	.;SPB13_HUMAN	Q	73;43;43;43;22	ENSP00000388300:L73Q;ENSP00000269489:L43Q;ENSP00000341584:L43Q;ENSP00000391156:L22Q	ENSP00000269489:L43Q	L	+	2	0	SERPINB13	59407009	0.029000	0.19370	0.000000	0.03702	0.002000	0.02628	2.016000	0.40971	-0.202000	0.10268	-0.411000	0.06167	CTG	.	.		0.527	SERPINB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133798.1	NM_012397	
RTTN	25914	hgsc.bcm.edu	37	18	67671402	67671402	+	Silent	SNP	G	G	T			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr18:67671402G>T	ENST00000255674.6	-	49	6952	c.6666C>A	c.(6664-6666)ctC>ctA	p.L2222L	RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	2222					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				AAGAATTAAGGAGCTGCACGA	0.428																																					p.L2222L		Atlas-SNP	.											.	RTTN	184	.	0			c.C6666A						.						140.0	134.0	136.0					18																	67671402		1887	4118	6005	SO:0001819	synonymous_variant	25914	exon49			ATTAAGGAGCTGC	AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.6666C>A	chr18.hg19:g.67671402G>T		67.0	0.0		66.0	12.0	NM_173630	Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Silent	SNP	ENST00000255674.6	hg19	CCDS42443.1																																																																																			.	.		0.428	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	NM_173630	
C19orf26	255057	hgsc.bcm.edu	37	19	1233486	1233486	+	Silent	SNP	A	A	G			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr19:1233486A>G	ENST00000382477.2	-	8	1252	c.978T>C	c.(976-978)taT>taC	p.Y326Y	C19orf26_ENST00000590083.1_Silent_p.Y306Y|C19orf26_ENST00000215376.6_Silent_p.Y300Y			Q8N350	DOS_HUMAN	chromosome 19 open reading frame 26	326						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|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)		TGACCTTGAAATAGGGGCTGG	0.682										HNSCC(14;0.022)																											p.Y306Y		Atlas-SNP	.											.	C19orf26	31	.	0			c.T918C						.						16.0	16.0	16.0					19																	1233486		2171	4288	6459	SO:0001819	synonymous_variant	255057	exon8			CTTGAAATAGGGG	BC028156	CCDS12057.1, CCDS12057.2	19p13.3	2012-10-24			ENSG00000099625	ENSG00000099625			28617	protein-coding gene	gene with protein product	"""downstream of STK11"""					12477932	Standard	NM_152769		Approved	MGC40084, DOS	uc002lrm.3	Q8N350	OTTHUMG00000180141	ENST00000382477.2:c.978T>C	chr19.hg19:g.1233486A>G		108.0	0.0		156.0	65.0	NM_152769	O43385	Silent	SNP	ENST00000382477.2	hg19																																																																																				.	.		0.682	C19orf26-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_152769	
MUC16	94025	hgsc.bcm.edu	37	19	9087179	9087179	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr19:9087179T>A	ENST00000397910.4	-	1	4839	c.4636A>T	c.(4636-4638)Agt>Tgt	p.S1546C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1546	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCAATCACACTGGTCCACGTG	0.478																																					p.S1546C		Atlas-SNP	.											.	MUC16	4315	.	0			c.A4636T						.						383.0	360.0	367.0					19																	9087179		2071	4213	6284	SO:0001583	missense	94025	exon1			TCACACTGGTCCA	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.4636A>T	chr19.hg19:g.9087179T>A	ENSP00000381008:p.Ser1546Cys	127.0	0.0		156.0	77.0	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	hg19	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	6.152	0.396214	0.11638	.	.	ENSG00000181143	ENST00000397910	T	0.02737	4.18	0.235	0.235	0.15431	.	.	.	.	.	T	0.04092	0.0114	N	0.08118	0	.	.	.	D	0.67145	0.996	D	0.65773	0.938	T	0.45338	-0.9268	7	0.87932	D	0	.	.	.	.	.	1546	B5ME49	.	C	1546	ENSP00000381008:S1546C	ENSP00000381008:S1546C	S	-	1	0	MUC16	8948179	0.000000	0.05858	0.424000	0.26647	0.431000	0.31685	-0.250000	0.08830	0.263000	0.21812	0.260000	0.18958	AGT	.	.		0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
ZSWIM4	65249	hgsc.bcm.edu	37	19	13936403	13936403	+	Missense_Mutation	SNP	A	A	C			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr19:13936403A>C	ENST00000254323.2	+	11	2093	c.1904A>C	c.(1903-1905)cAg>cCg	p.Q635P	ZSWIM4_ENST00000440752.2_Missense_Mutation_p.Q469P	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	635							zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			GGCTCCATCCAGCAGAACATC	0.647																																					p.Q635P		Atlas-SNP	.											.	ZSWIM4	69	.	0			c.A1904C						.						87.0	89.0	88.0					19																	13936403		2203	4300	6503	SO:0001583	missense	65249	exon11			CCATCCAGCAGAA	AK022283	CCDS32924.1	19p13.13	2012-02-23			ENSG00000132003	ENSG00000132003		"""Zinc fingers, SWIM-type"""	25704	protein-coding gene	gene with protein product							Standard	NM_023072		Approved	FLJ12221	uc002mxh.1	Q9H7M6		ENST00000254323.2:c.1904A>C	chr19.hg19:g.13936403A>C	ENSP00000254323:p.Gln635Pro	52.0	0.0		66.0	15.0	NM_023072		Missense_Mutation	SNP	ENST00000254323.2	hg19	CCDS32924.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.422675	0.83559	.	.	ENSG00000132003	ENST00000254323;ENST00000440752	T;T	0.53640	0.61;0.62	4.23	4.23	0.50019	.	0.000000	0.48767	D	0.000161	T	0.48642	0.1511	M	0.66297	2.02	0.45822	D	0.998693	B;B	0.23990	0.009;0.095	B;B	0.31245	0.013;0.126	T	0.53809	-0.8386	10	0.66056	D	0.02	-32.3189	11.299	0.49294	1.0:0.0:0.0:0.0	.	469;635	E7ERX2;Q9H7M6	.;ZSWM4_HUMAN	P	635;469	ENSP00000254323:Q635P;ENSP00000405278:Q469P	ENSP00000254323:Q635P	Q	+	2	0	ZSWIM4	13797403	1.000000	0.71417	0.999000	0.59377	0.925000	0.55904	8.659000	0.91116	1.767000	0.52121	0.482000	0.46254	CAG	.	.		0.647	ZSWIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457457.1	XM_031342	
ZSWIM4	65249	hgsc.bcm.edu	37	19	13936406	13936406	+	Missense_Mutation	SNP	A	A	C			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr19:13936406A>C	ENST00000254323.2	+	11	2096	c.1907A>C	c.(1906-1908)cAg>cCg	p.Q636P	ZSWIM4_ENST00000440752.2_Missense_Mutation_p.Q470P	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	636							zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			TCCATCCAGCAGAACATCCAC	0.642																																					p.Q636P		Atlas-SNP	.											.	ZSWIM4	69	.	0			c.A1907C						.						87.0	89.0	88.0					19																	13936406		2203	4300	6503	SO:0001583	missense	65249	exon11			TCCAGCAGAACAT	AK022283	CCDS32924.1	19p13.13	2012-02-23			ENSG00000132003	ENSG00000132003		"""Zinc fingers, SWIM-type"""	25704	protein-coding gene	gene with protein product							Standard	NM_023072		Approved	FLJ12221	uc002mxh.1	Q9H7M6		ENST00000254323.2:c.1907A>C	chr19.hg19:g.13936406A>C	ENSP00000254323:p.Gln636Pro	51.0	0.0		65.0	15.0	NM_023072		Missense_Mutation	SNP	ENST00000254323.2	hg19	CCDS32924.1	.	.	.	.	.	.	.	.	.	.	A	19.45	3.829862	0.71258	.	.	ENSG00000132003	ENST00000254323;ENST00000440752	T;T	0.46063	0.88;0.88	4.23	4.23	0.50019	.	0.298357	0.22940	N	0.053790	T	0.50394	0.1613	L	0.53249	1.67	0.39318	D	0.965202	P;D	0.53151	0.95;0.958	P;P	0.54706	0.698;0.759	T	0.55256	-0.8169	10	0.59425	D	0.04	-30.8687	11.299	0.49294	1.0:0.0:0.0:0.0	.	470;636	E7ERX2;Q9H7M6	.;ZSWM4_HUMAN	P	636;470	ENSP00000254323:Q636P;ENSP00000405278:Q470P	ENSP00000254323:Q636P	Q	+	2	0	ZSWIM4	13797406	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	5.523000	0.67099	1.767000	0.52121	0.482000	0.46254	CAG	.	.		0.642	ZSWIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457457.1	XM_031342	
NANOS3	342977	hgsc.bcm.edu	37	19	13988410	13988410	+	Silent	SNP	C	C	A	rs535775641	byFrequency	TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr19:13988410C>A	ENST00000397555.2	+	2	291	c.291C>A	c.(289-291)ggC>ggA	p.G97G	NANOS3_ENST00000339133.5_Silent_p.G116G|MIR181C_ENST00000384881.1_RNA|NANOS3_ENST00000591727.1_Intron|MIR181D_ENST00000384853.1_RNA	NM_001098622.2	NP_001092092.1	P60323	NANO3_HUMAN	nanos homolog 3 (Drosophila)	97					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	7			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			CCCAGTGCGGCGCCACACGTG	0.662																																					p.G116G		Atlas-SNP	.											.	NANOS3	19	.	0			c.C348A						.						29.0	34.0	32.0					19																	13988410		2157	4264	6421	SO:0001819	synonymous_variant	342977	exon1			GTGCGGCGCCACA	BM702754	CCDS42511.1	19p13.13	2003-12-01				ENSG00000187556			22048	protein-coding gene	gene with protein product		608229					Standard	NM_001098622		Approved	NANOS1L, NOS3	uc002mxj.4	P60323		ENST00000397555.2:c.291C>A	chr19.hg19:g.13988410C>A		30.0	0.0		46.0	17.0	NM_001098622	Q495E5	Silent	SNP	ENST00000397555.2	hg19																																																																																				.	.		0.662	NANOS3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_292819	
ZNF383	163087	hgsc.bcm.edu	37	19	37733636	37733636	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr19:37733636A>T	ENST00000589413.1	+	8	1081	c.498A>T	c.(496-498)gaA>gaT	p.E166D	ZNF383_ENST00000352998.3_Missense_Mutation_p.E166D|ZNF383_ENST00000590503.1_Missense_Mutation_p.E166D			Q8NA42	ZN383_HUMAN	zinc finger protein 383	166					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTAATAATGAAGACAGACCCT	0.323																																					p.E166D		Atlas-SNP	.											.	ZNF383	42	.	0			c.A498T						.						51.0	54.0	53.0					19																	37733636		2203	4299	6502	SO:0001583	missense	163087	exon5			TAATGAAGACAGA	AY438646	CCDS12501.1	19q13.13	2013-01-08				ENSG00000188283		"""Zinc fingers, C2H2-type"", ""-"""	18609	protein-coding gene	gene with protein product							Standard	NM_152604		Approved	FLJ35863	uc002ofu.1	Q8NA42		ENST00000589413.1:c.498A>T	chr19.hg19:g.37733636A>T	ENSP00000464871:p.Glu166Asp	116.0	0.0		150.0	63.0	NM_152604	Q6X2C7	Missense_Mutation	SNP	ENST00000589413.1	hg19	CCDS12501.1	.	.	.	.	.	.	.	.	.	.	A	3.884	-0.025269	0.07589	.	.	ENSG00000188283	ENST00000352998	T	0.15256	2.44	3.78	0.355	0.16069	.	0.256785	0.20487	N	0.091375	T	0.08223	0.0205	N	0.17838	0.53	0.20074	N	0.999932	B	0.09022	0.002	B	0.12837	0.008	T	0.25502	-1.0130	10	0.59425	D	0.04	.	0.9524	0.01379	0.4971:0.198:0.1136:0.1913	.	166	Q8NA42	ZN383_HUMAN	D	166	ENSP00000340132:E166D	ENSP00000340132:E166D	E	+	3	2	ZNF383	42425476	0.087000	0.21565	0.977000	0.42913	0.095000	0.18619	-0.007000	0.12810	-0.115000	0.11915	-0.371000	0.07208	GAA	.	.		0.323	ZNF383-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458141.1	NM_152604	
CATSPERG	57828	hgsc.bcm.edu	37	19	38857882	38857882	+	Silent	SNP	C	C	G			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr19:38857882C>G	ENST00000409235.3	+	23	2815	c.2700C>G	c.(2698-2700)cgC>cgG	p.R900R	CATSPERG_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Silent_p.R860R	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	900					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						AATACAGCCGCCTGAAGAACA	0.577																																					p.R900R		Atlas-SNP	.											.	CATSPERG	121	.	0			c.C2700G						.						133.0	102.0	113.0					19																	38857882		2203	4300	6503	SO:0001819	synonymous_variant	57828	exon23			CAGCCGCCTGAAG	AK128220	CCDS12514.2	19q13.1	2014-05-13	2012-02-22	2009-07-17	ENSG00000099338	ENSG00000099338			25243	protein-coding gene	gene with protein product		613452	"""chromosome 19 open reading frame 15"", ""cation channel, sperm-associated, gamma"""	C19orf15		19516020	Standard	NM_021185		Approved	DKFZp434A1022, FLJ46353	uc002oih.4	Q6ZRH7	OTTHUMG00000153223	ENST00000409235.3:c.2700C>G	chr19.hg19:g.38857882C>G		22.0	0.0		49.0	17.0	NM_021185	A6NEG6|Q659E1	Silent	SNP	ENST00000409235.3	hg19	CCDS12514.2																																																																																			.	.		0.577	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330204.1	NM_021185	
FCGBP	8857	hgsc.bcm.edu	37	19	40398324	40398324	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr19:40398324T>A	ENST00000221347.6	-	14	6650	c.6643A>T	c.(6643-6645)Aac>Tac	p.N2215Y		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2215	VWFD 5. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGGTCCTGGTTGTAGTTCCCG	0.692																																					p.N2215Y		Atlas-SNP	.											.	FCGBP	416	.	0			c.A6643T						.						11.0	14.0	13.0					19																	40398324		1837	3506	5343	SO:0001583	missense	8857	exon14			CCTGGTTGTAGTT	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.6643A>T	chr19.hg19:g.40398324T>A	ENSP00000221347:p.Asn2215Tyr	131.0	0.0		172.0	51.0	NM_003890	O95784	Missense_Mutation	SNP	ENST00000221347.6	hg19	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	T	14.60	2.583624	0.46006	.	.	ENSG00000090920	ENST00000221347	T	0.67865	-0.29	2.17	2.17	0.27698	von Willebrand factor, type D domain (3);	.	.	.	.	D	0.85517	0.5715	H	0.96604	3.85	0.45366	D	0.998355	D	0.89917	1.0	D	0.91635	0.999	D	0.87347	0.2335	9	0.87932	D	0	.	9.5999	0.39598	0.0:0.0:0.0:1.0	.	2215	Q9Y6R7	FCGBP_HUMAN	Y	2215	ENSP00000221347:N2215Y	ENSP00000221347:N2215Y	N	-	1	0	FCGBP	45090164	1.000000	0.71417	0.985000	0.45067	0.650000	0.38633	4.286000	0.58995	1.253000	0.44018	0.392000	0.25879	AAC	.	.		0.692	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890	
BSPH1	100131137	hgsc.bcm.edu	37	19	48480713	48480713	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr19:48480713T>A	ENST00000344839.3	-	4	261	c.173A>T	c.(172-174)gAc>gTc	p.D58V		NM_001128326.2	NP_001121798.1	Q075Z2	BSPH1_HUMAN	binder of sperm protein homolog 1	58	Fibronectin type-II 1. {ECO:0000255|PROSITE-ProRule:PRU00479}.				single fertilization (GO:0007338)|sperm capacitation (GO:0048240)	cell surface (GO:0009986)|extracellular region (GO:0005576)	heparin binding (GO:0008201)			stomach(2)	2						CTTGATGCAGTCATAATATGT	0.428																																					p.D58V		Atlas-SNP	.											.	BSPH1	6	.	0			c.A173T						.						376.0	287.0	314.0					19																	48480713		692	1591	2283	SO:0001583	missense	100131137	exon4			ATGCAGTCATAAT	DQ227497	CCDS46135.1	19q13.32	2012-09-20				ENSG00000188334			33906	protein-coding gene	gene with protein product	"""epididymal sperm binding protein 2"", ""bovine seminal plasma protein homolog 1"""	612213				17085770, 18923155	Standard	NM_001128326		Approved	ELSPBP2, BSP1	uc002phs.1	Q075Z2		ENST00000344839.3:c.173A>T	chr19.hg19:g.48480713T>A	ENSP00000341762:p.Asp58Val	94.0	0.0		90.0	52.0	NM_001128326	A6NIZ5	Missense_Mutation	SNP	ENST00000344839.3	hg19	CCDS46135.1	.	.	.	.	.	.	.	.	.	.	T	12.79	2.043659	0.36085	.	.	ENSG00000188334	ENST00000344839	T	0.52057	0.68	3.89	2.86	0.33363	Fibronectin, type II, collagen-binding (4);Kringle-like fold (1);	0.000000	0.41194	D	0.000926	T	0.62270	0.2414	M	0.88906	2.99	0.22629	N	0.998913	P	0.46987	0.888	P	0.53490	0.727	T	0.56245	-0.8011	10	0.56958	D	0.05	-42.1826	7.5223	0.27635	0.0:0.0:0.2186:0.7814	.	58	Q075Z2	BSPH1_HUMAN	V	58	ENSP00000341762:D58V	ENSP00000341762:D58V	D	-	2	0	BSPH1	53172525	0.302000	0.24454	0.125000	0.21846	0.012000	0.07955	0.487000	0.22356	0.820000	0.34516	0.482000	0.46254	GAC	.	.		0.428	BSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465206.1	NM_001128326	
ZNF880	400713	hgsc.bcm.edu	37	19	52877651	52877651	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr19:52877651G>T	ENST00000422689.2	+	3	254	c.239G>T	c.(238-240)gGc>gTc	p.G80V	ZNF880_ENST00000597976.1_Missense_Mutation_p.G80V|ZNF880_ENST00000424032.2_Missense_Mutation_p.G80V|ZNF880_ENST00000344085.5_Intron|ZNF880_ENST00000600321.1_Missense_Mutation_p.G80V	NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880	80					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						AATCCAGGTGGCAGGGAGTGC	0.468																																					p.G80V		Atlas-SNP	.											.	ZNF880	45	.	0			c.G239T						.						78.0	71.0	73.0					19																	52877651		692	1591	2283	SO:0001583	missense	400713	exon3			CAGGTGGCAGGGA	BC058819	CCDS46164.1	19q13.41	2013-01-08			ENSG00000221923	ENSG00000221923		"""Zinc fingers, C2H2-type"", ""-"""	37249	protein-coding gene	gene with protein product							Standard	NM_001145434		Approved		uc002pzc.3	Q6PDB4	OTTHUMG00000167972	ENST00000422689.2:c.239G>T	chr19.hg19:g.52877651G>T	ENSP00000406318:p.Gly80Val	169.0	0.0		211.0	10.0	NM_001145434	B4DNA6	Missense_Mutation	SNP	ENST00000422689.2	hg19	CCDS46164.1	.	.	.	.	.	.	.	.	.	.	G	6.228	0.410122	0.11812	.	.	ENSG00000221923	ENST00000424032;ENST00000422689	T;T	0.06449	5.37;3.3	1.03	-1.36	0.09085	.	.	.	.	.	T	0.02571	0.0078	L	0.29908	0.895	0.09310	N	1	P	0.42993	0.797	B	0.23150	0.044	T	0.46205	-0.9208	9	0.17369	T	0.5	.	3.9207	0.09242	0.5188:0.0:0.4812:0.0	.	80	Q6PDB4	ZN880_HUMAN	V	80	ENSP00000414470:G80V;ENSP00000406318:G80V	ENSP00000406318:G80V	G	+	2	0	ZNF880	57569463	0.001000	0.12720	0.000000	0.03702	0.010000	0.07245	0.408000	0.21065	-0.461000	0.06993	0.448000	0.29417	GGC	.	.		0.468	ZNF880-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397374.1	NM_001145434	
NLRP2	55655	hgsc.bcm.edu	37	19	55495067	55495067	+	Silent	SNP	T	T	A			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr19:55495067T>A	ENST00000543010.1	+	6	2144	c.2001T>A	c.(1999-2001)acT>acA	p.T667T	NLRP2_ENST00000427260.2_Silent_p.T644T|NLRP2_ENST00000537859.1_Silent_p.T645T|NLRP2_ENST00000538819.1_Silent_p.T643T|NLRP2_ENST00000339757.7_Silent_p.T645T|NLRP2_ENST00000391721.4_Silent_p.T643T|NLRP2_ENST00000263437.6_Silent_p.T664T|NLRP2_ENST00000448584.2_Silent_p.T667T	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	667					positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		AGAATGTCACTGCGTCTGAAT	0.507																																					p.T667T		Atlas-SNP	.											.	NLRP2	161	.	0			c.T2001A						.						56.0	54.0	54.0					19																	55495067		2203	4300	6503	SO:0001819	synonymous_variant	55655	exon6			TGTCACTGCGTCT	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"""Nucleotide-binding domain and leucine rich repeat containing"""	22948	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"""	609364	"""NACHT, leucine rich repeat and PYD containing 2"""	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.2001T>A	chr19.hg19:g.55495067T>A		31.0	0.0		21.0	10.0	NM_017852	B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Silent	SNP	ENST00000543010.1	hg19	CCDS12913.1																																																																																			.	.		0.507	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852	
SNTA1	6640	hgsc.bcm.edu	37	20	32026678	32026678	+	Silent	SNP	G	G	C			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr20:32026678G>C	ENST00000217381.2	-	2	736	c.465C>G	c.(463-465)ctC>ctG	p.L155L		NM_003098.2	NP_003089.1	Q13424	SNTA1_HUMAN	syntrophin, alpha 1	155	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.|PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				muscle contraction (GO:0006936)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|neuromuscular junction development (GO:0007528)|regulation of heart rate (GO:0002027)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of vasoconstriction by circulating norepinephrine (GO:0003117)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|ventricular cardiac muscle cell action potential (GO:0086005)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular (GO:0005622)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	ATPase binding (GO:0051117)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)			breast(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(1)	13						CTGTCTTCTTGAGGACCTGCA	0.582																																					p.L155L		Atlas-SNP	.											.	SNTA1	35	.	0			c.C465G						.						168.0	150.0	156.0					20																	32026678		2203	4300	6503	SO:0001819	synonymous_variant	6640	exon2			CTTCTTGAGGACC	U40571	CCDS13220.1	20q11.2	2014-09-17	2012-06-15		ENSG00000101400	ENSG00000101400			11167	protein-coding gene	gene with protein product	"""pro-TGF-alpha cytoplasmic domain-interacting protein 1"", ""dystrophin-associated protein A1, 59kDa, acidic component"""	601017	"""syntrophin, alpha 1 (dystrophin-associated protein A1, 59kD, acidic component)"""	SNT1		8576247, 8612778	Standard	NM_003098		Approved	TACIP1, LQT12	uc002wzd.1	Q13424	OTTHUMG00000032259	ENST00000217381.2:c.465C>G	chr20.hg19:g.32026678G>C		81.0	0.0		155.0	26.0	NM_003098	A8K7H9|B4DX40|E1P5N1|Q16438	Silent	SNP	ENST00000217381.2	hg19	CCDS13220.1																																																																																			.	.		0.582	SNTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078704.2	NM_003098	
PREX1	57580	hgsc.bcm.edu	37	20	47268095	47268095	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr20:47268095G>A	ENST00000371941.3	-	22	2516	c.2494C>T	c.(2494-2496)Cgg>Tgg	p.R832W	PREX1_ENST00000396220.1_Missense_Mutation_p.R832W	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	832					actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			AGGCTCAGCCGGGGACCCAGG	0.607																																					p.R832W		Atlas-SNP	.											.	PREX1	441	.	0			c.C2494T						.						51.0	48.0	49.0					20																	47268095		2203	4300	6503	SO:0001583	missense	57580	exon22			TCAGCCGGGGACC	AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.2494C>T	chr20.hg19:g.47268095G>A	ENSP00000361009:p.Arg832Trp	50.0	0.0		45.0	13.0	NM_020820	E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	hg19	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	G	16.58	3.162437	0.57368	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.61859	0.09;0.07	4.82	4.82	0.62117	.	0.513361	0.16178	U	0.225959	T	0.43875	0.1267	N	0.14661	0.345	0.29711	N	0.839429	B;B	0.14805	0.001;0.011	B;B	0.09377	0.001;0.004	T	0.48581	-0.9023	10	0.72032	D	0.01	.	16.1203	0.81346	0.0:0.0:1.0:0.0	.	832;129	Q8TCU6;Q8TCU6-2	PREX1_HUMAN;.	W	832	ENSP00000361009:R832W;ENSP00000379522:R832W	ENSP00000361009:R832W	R	-	1	2	PREX1	46701502	1.000000	0.71417	0.985000	0.45067	0.870000	0.49936	4.339000	0.59322	2.225000	0.72522	0.563000	0.77884	CGG	.	.		0.607	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820	
ARFGAP1	55738	hgsc.bcm.edu	37	20	61919056	61919056	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr20:61919056G>A	ENST00000370283.4	+	13	1192	c.1052G>A	c.(1051-1053)tGc>tAc	p.C351Y	ARFGAP1_ENST00000370275.4_3'UTR|ARFGAP1_ENST00000519273.2_Missense_Mutation_p.C238Y|ARFGAP1_ENST00000353546.3_Missense_Mutation_p.C359Y|ARFGAP1_ENST00000518794.2_3'UTR|ARFGAP1_ENST00000519604.1_Missense_Mutation_p.C306Y|MIR4326_ENST00000582203.1_RNA|ARFGAP1_ENST00000547204.1_Missense_Mutation_p.C285Y	NM_018209.2	NP_060679.1	Q8N6T3	ARFG1_HUMAN	ADP-ribosylation factor GTPase activating protein 1	351					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|COPI coating of Golgi vesicle (GO:0048205)|endoplasmic reticulum unfolded protein response (GO:0030968)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	cytosol (GO:0005829)|Golgi-associated vesicle membrane (GO:0030660)|synapse (GO:0045202)	ARF GTPase activator activity (GO:0008060)|GTPase activator activity (GO:0005096)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)	13	all_cancers(38;1.59e-09)					AGCTGGACGTGCGCGGACACC	0.642																																					p.C359Y		Atlas-SNP	.											.	ARFGAP1	38	.	0			c.G1076A						.						33.0	33.0	33.0					20																	61919056		2196	4297	6493	SO:0001583	missense	55738	exon14			GGACGTGCGCGGA	AK001629	CCDS13515.1, CCDS13516.1, CCDS63326.1, CCDS63327.1, CCDS63328.1	20q13.33	2009-11-30	2002-08-20	2002-08-23	ENSG00000101199	ENSG00000101199		"""ADP-ribosylation factor GTPase activating proteins"""	15852	protein-coding gene	gene with protein product		608377	"""ADP-ribosylation factor 1 GTPase activating protein"""	ARF1GAP		11210549	Standard	NM_018209		Approved	FLJ10767, bA261N11.3	uc002yel.3	Q8N6T3	OTTHUMG00000032965	ENST00000370283.4:c.1052G>A	chr20.hg19:g.61919056G>A	ENSP00000359306:p.Cys351Tyr	102.0	0.0		116.0	30.0	NM_175609	B7Z3U0|B7Z8H8|B7ZBI3|E1P5I9|E7EV62|Q6PK71|Q96KC4|Q96T02|Q9NSU3|Q9NVF6|Q9UIL0	Missense_Mutation	SNP	ENST00000370283.4	hg19	CCDS13515.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.786|4.786	0.146162|0.146162	0.09134|0.09134	.|.	.|.	ENSG00000101199|ENSG00000101199	ENST00000549076|ENST00000370283;ENST00000547204;ENST00000523460;ENST00000519604;ENST00000519273;ENST00000353546	.|T;T;T;T;T	.|0.41758	.|1.59;1.0;1.0;0.99;1.59	4.95|4.95	3.75|3.75	0.43078|0.43078	.|.	.|0.621705	.|0.17967	.|N	.|0.155965	T|T	0.17109|0.17109	0.0411|0.0411	N|N	0.13043|0.13043	0.29|0.29	0.32563|0.32563	N|N	0.530815|0.530815	.|B;B;B;B	.|0.09022	.|0.002;0.0;0.0;0.0	.|B;B;B;B	.|0.09377	.|0.004;0.001;0.0;0.002	T|T	0.33727|0.33727	-0.9857|-0.9857	5|10	.|0.02654	.|T	.|1	-7.1054|-7.1054	2.3333|2.3333	0.04241|0.04241	0.2043:0.0:0.4925:0.3032|0.2043:0.0:0.4925:0.3032	.|.	.|238;306;351;359	.|B7Z8H8;E7EV62;Q8N6T3;Q8N6T3-2	.|.;.;ARFG1_HUMAN;.	T|Y	17|351;285;107;306;238;359	.|ENSP00000359306:C351Y;ENSP00000449800:C285Y;ENSP00000430500:C306Y;ENSP00000443716:C238Y;ENSP00000314615:C359Y	.|ENSP00000314615:C359Y	A|C	+|+	1|2	0|0	ARFGAP1|ARFGAP1	61389501|61389501	0.990000|0.990000	0.36364|0.36364	0.479000|0.479000	0.27329|0.27329	0.420000|0.420000	0.31355|0.31355	3.016000|3.016000	0.49607|0.49607	2.449000|2.449000	0.82847|0.82847	0.462000|0.462000	0.41574|0.41574	GCG|TGC	.	.		0.642	ARFGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080134.3	NM_018209	
KCNQ2	3785	hgsc.bcm.edu	37	20	62038313	62038313	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr20:62038313T>A	ENST00000359125.2	-	17	2477	c.2303A>T	c.(2302-2304)cAg>cTg	p.Q768L	KCNQ2_ENST00000354587.3_Missense_Mutation_p.Q776L|KCNQ2_ENST00000359689.1_Missense_Mutation_p.Q768L|KCNQ2_ENST00000344462.4_Missense_Mutation_p.Q737L|KCNQ2_ENST00000370224.1_Missense_Mutation_p.Q776L|KCNQ2_ENST00000357249.2_Missense_Mutation_p.Q750L|KCNQ2_ENST00000360480.3_Missense_Mutation_p.Q740L	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	768					axon guidance (GO:0007411)|nervous system development (GO:0007399)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	GGTGTCCTCCTGCCGCAGGAA	0.731																																					p.Q768L		Atlas-SNP	.											.	KCNQ2	201	.	0			c.A2303T						.						9.0	8.0	8.0					20																	62038313		2136	4220	6356	SO:0001583	missense	3785	exon17			TCCTCCTGCCGCA	AF033348	CCDS13518.1, CCDS13519.1, CCDS13520.1, CCDS13521.1, CCDS46629.1	20q13.33	2012-07-05			ENSG00000075043	ENSG00000075043		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6296	protein-coding gene	gene with protein product		602235		EBN, EBN1		9425895, 16382104	Standard	NM_172107		Approved	Kv7.2, ENB1, BFNC, KCNA11, HNSPC	uc002yex.3	O43526	OTTHUMG00000033049	ENST00000359125.2:c.2303A>T	chr20.hg19:g.62038313T>A	ENSP00000352035:p.Gln768Leu	180.0	0.0		224.0	124.0	NM_172107	O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Missense_Mutation	SNP	ENST00000359125.2	hg19	CCDS13520.1	.	.	.	.	.	.	.	.	.	.	T	0.715	-0.785662	0.02907	.	.	ENSG00000075043	ENST00000357249;ENST00000359125;ENST00000370226;ENST00000354587;ENST00000359689;ENST00000430658;ENST00000360480;ENST00000344462;ENST00000370224	T;T;T;T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96	4.95	-4.91	0.03085	.	1.340020	0.05022	N	0.472991	T	0.16557	0.0398	N	0.08118	0	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.0;0.0;0.001	T	0.13124	-1.0521	10	0.11794	T	0.64	-3.1419	2.4451	0.04504	0.3695:0.0698:0.3293:0.2314	.	740;750;737;768	O43526-3;O43526-2;O43526-4;O43526	.;.;.;KCNQ2_HUMAN	L	750;768;738;776;768;737;740;764;776	ENSP00000349789:Q750L;ENSP00000352035:Q768L;ENSP00000359246:Q738L;ENSP00000346601:Q776L;ENSP00000352718:Q768L;ENSP00000399612:Q737L;ENSP00000353668:Q740L;ENSP00000339611:Q764L;ENSP00000359244:Q776L	ENSP00000339611:Q764L	Q	-	2	0	KCNQ2	61508757	0.000000	0.05858	0.005000	0.12908	0.030000	0.12068	-0.161000	0.10026	-1.454000	0.01926	0.402000	0.26972	CAG	.	.		0.731	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080353.1	NM_172109	
ADAMTS5	11096	hgsc.bcm.edu	37	21	28338522	28338522	+	Silent	SNP	G	G	T			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr21:28338522G>T	ENST00000284987.5	-	1	310	c.189C>A	c.(187-189)ccC>ccA	p.P63P		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	63					defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						GCTGCGCCAGGGGGTGCGGGT	0.746																																					p.P63P	Esophageal Squamous(53;683 1080 10100 14424 45938)	Atlas-SNP	.											.	ADAMTS5	184	.	0			c.C189A						.						18.0	19.0	18.0					21																	28338522		2101	4140	6241	SO:0001819	synonymous_variant	11096	exon1			CGCCAGGGGGTGC	AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	221	protein-coding gene	gene with protein product	"""aggrecanase-2"""	605007	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"""			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.189C>A	chr21.hg19:g.28338522G>T		63.0	0.0		97.0	60.0	NM_007038	Q52LV4|Q9UKP2	Silent	SNP	ENST00000284987.5	hg19	CCDS13579.1																																																																																			.	.		0.746	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1		
TTC3	7267	hgsc.bcm.edu	37	21	38567975	38567975	+	Splice_Site	SNP	G	G	A			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr21:38567975G>A	ENST00000399017.2	+	42	7964		c.e42-1		TTC3-AS1_ENST00000424733.1_RNA|TTC3_ENST00000354749.2_Splice_Site|TTC3_ENST00000479930.1_Splice_Site|TTC3_ENST00000355666.1_Splice_Site	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3						negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				GTTCCTCACAGGTTCATCCCG	0.537																																					.	Ovarian(38;194 1649 35661)	Atlas-SNP	.											.	TTC3	182	.	0			c.5218-1G>A						.						268.0	278.0	275.0					21																	38567975		2203	4300	6503	SO:0001630	splice_region_variant	7267	exon42			CTCACAGGTTCAT	D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"""RING-type (C3HC4) zinc fingers"", ""Tetratricopeptide (TTC) repeat domain containing"""	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.5218-1G>A	chr21.hg19:g.38567975G>A		144.0	0.0		176.0	48.0	NM_001001894	A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Splice_Site	SNP	ENST00000399017.2	hg19	CCDS13651.1	.	.	.	.	.	.	.	.	.	.	G	9.382	1.073249	0.20147	.	.	ENSG00000182670	ENST00000355666;ENST00000399017;ENST00000354749;ENST00000428693	.	.	.	4.72	3.56	0.40772	.	.	.	.	.	.	.	.	.	.	.	0.21020	N	0.999802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.861	0.18747	0.1781:0.0:0.8219:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TTC3	37489845	0.159000	0.22864	0.095000	0.20976	0.003000	0.03518	1.405000	0.34635	2.348000	0.79779	0.563000	0.77884	.	.	.		0.537	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1		Intron
TTC3	7267	hgsc.bcm.edu	37	21	38567997	38567997	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr21:38567997G>T	ENST00000399017.2	+	42	7986	c.5239G>T	c.(5239-5241)Gag>Tag	p.E1747*	TTC3-AS1_ENST00000424733.1_RNA|TTC3_ENST00000354749.2_Nonsense_Mutation_p.E1747*|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000355666.1_Nonsense_Mutation_p.E1747*	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1747					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				GTTACTCCCTGAGTCTTCAGG	0.542																																					p.E1747X	Ovarian(38;194 1649 35661)	Atlas-SNP	.											.	TTC3	182	.	0			c.G5239T						.						238.0	247.0	244.0					21																	38567997		2203	4300	6503	SO:0001587	stop_gained	7267	exon42			CTCCCTGAGTCTT	D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"""RING-type (C3HC4) zinc fingers"", ""Tetratricopeptide (TTC) repeat domain containing"""	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.5239G>T	chr21.hg19:g.38567997G>T	ENSP00000381981:p.Glu1747*	151.0	0.0		168.0	44.0	NM_001001894	A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Nonsense_Mutation	SNP	ENST00000399017.2	hg19	CCDS13651.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	53|53	20.113003|20.113003	0.99927|0.99927	.|.	.|.	ENSG00000182670|ENSG00000182670	ENST00000355666;ENST00000399017;ENST00000354749|ENST00000428693	.|.	.|.	.|.	4.72|4.72	0.712|0.712	0.18167|0.18167	.|.	0.700044|.	0.12264|.	N|.	0.484431|.	.|.	.|.	.|.	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.59425|.	D|.	0.04|.	-4.7468|-4.7468	3.9876|3.9876	0.09522|0.09522	0.303:0.1782:0.5188:0.0|0.303:0.1782:0.5188:0.0	.|.	.|.	.|.	.|.	X|L	1747|38	.|.	ENSP00000346791:E1747X|.	E|X	+|+	1|2	0|2	TTC3|TTC3	37489867|37489867	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.008000|0.008000	0.06430|0.06430	0.022000|0.022000	0.13511|0.13511	0.158000|0.158000	0.19367|0.19367	0.563000|0.563000	0.77884|0.77884	GAG|TGA	.	.		0.542	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1		
KRTAP10-10	353333	hgsc.bcm.edu	37	21	46057580	46057580	+	Silent	SNP	G	G	T	rs150687639	byFrequency	TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr21:46057580G>T	ENST00000380095.1	+	1	308	c.246G>T	c.(244-246)ccG>ccT	p.P82P	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	82	15 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						GCTGCCAGCCGGATTGCTGCA	0.652																																					p.P82P		Atlas-SNP	.											.	KRTAP10-10	37	.	0			c.G246T						.						112.0	108.0	109.0					21																	46057580		2203	4300	6503	SO:0001819	synonymous_variant	353333	exon1			CCAGCCGGATTGC	AJ566387	CCDS33585.1	21q22.3	2006-03-13			ENSG00000221859	ENSG00000221859		"""Keratin associated proteins"""	22972	protein-coding gene	gene with protein product							Standard	NM_181688		Approved	KAP10.10, KAP18.10, KRTAP18-10	uc002zfq.3	P60014	OTTHUMG00000057631	ENST00000380095.1:c.246G>T	chr21.hg19:g.46057580G>T		31.0	0.0		36.0	14.0	NM_181688		Silent	SNP	ENST00000380095.1	hg19	CCDS33585.1																																																																																			.	G|0.999;A|0.001		0.652	KRTAP10-10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128034.1	NM_181688	
SCARF2	91179	hgsc.bcm.edu	37	22	20784091	20784091	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr22:20784091T>A	ENST00000266214.5	-	7	1336	c.1232A>T	c.(1231-1233)cAc>cTc	p.H411L	SCARF2_ENST00000405555.3_Missense_Mutation_p.H411L	NM_153334.4	NP_699165.2	Q96GP6	SREC2_HUMAN	scavenger receptor class F, member 2	411					cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GTCCGCGCCGTGGAGTCCGGG	0.677																																					p.H411L		Atlas-SNP	.											.	SCARF2	23	.	0			c.A1232T						.						43.0	41.0	42.0					22																	20784091		2203	4299	6502	SO:0001583	missense	91179	exon7			GCGCCGTGGAGTC	AF522196	CCDS13779.1, CCDS46666.1	22q11.21	2011-10-10			ENSG00000244486	ENSG00000244486			19869	protein-coding gene	gene with protein product		613619				12154095	Standard	XM_006724364		Approved	SREC-II, SREC2, HUMZD58C02	uc002zsk.2	Q96GP6	OTTHUMG00000150779	ENST00000266214.5:c.1232A>T	chr22.hg19:g.20784091T>A	ENSP00000266214:p.His411Leu	118.0	0.0		88.0	40.0	NM_182895	E5RFB8|Q58A83|Q8IXF3|Q9BW74	Missense_Mutation	SNP	ENST00000266214.5	hg19	CCDS13779.1	.	.	.	.	.	.	.	.	.	.	T	16.56	3.156590	0.57259	.	.	ENSG00000244486	ENST00000405555;ENST00000341328;ENST00000266214	T;T	0.32753	1.44;1.44	4.11	2.97	0.34412	.	0.331162	0.28057	N	0.016765	T	0.18087	0.0434	L	0.27053	0.805	0.80722	D	1	P;B	0.35383	0.498;0.329	B;B	0.33454	0.164;0.095	T	0.04579	-1.0941	10	0.48119	T	0.1	-24.2577	6.4427	0.21859	0.3545:0.0:0.0:0.6455	.	411;411	E5RFB8;Q96GP6	.;SREC2_HUMAN	L	411	ENSP00000385589:H411L;ENSP00000266214:H411L	ENSP00000266214:H411L	H	-	2	0	SCARF2	19114091	0.995000	0.38212	0.996000	0.52242	0.872000	0.50106	2.314000	0.43743	1.614000	0.50241	0.383000	0.25322	CAC	.	.		0.677	SCARF2-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320047.1		
KLHL22	84861	hgsc.bcm.edu	37	22	20819206	20819206	+	Missense_Mutation	SNP	C	C	T	rs372979261		TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr22:20819206C>T	ENST00000328879.4	-	4	1207	c.1051G>A	c.(1051-1053)Gta>Ata	p.V351I	KLHL22_ENST00000440659.2_Missense_Mutation_p.V208I	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	351					cell division (GO:0051301)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein monoubiquitination (GO:0006513)	centrosome (GO:0005813)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|polar microtubule (GO:0005827)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			ATCAAGTATACGAAGTTGTTG	0.557																																					p.V351I		Atlas-SNP	.											KLHL22,colon,carcinoma,0,1	KLHL22	52	.	0			c.G1051A						.	C	ILE/VAL	0,4406		0,0,2203	99.0	89.0	93.0		1051	5.4	1.0	22		93	2,8598	1.2+/-3.3	0,2,4298	no	missense	KLHL22	NM_032775.3	29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	351/635	20819206	2,13004	2203	4300	6503	SO:0001583	missense	84861	exon4			AGTATACGAAGTT		CCDS13780.1	22q11.21	2013-01-30	2013-01-30		ENSG00000099910	ENSG00000099910		"""Kelch-like"", ""BTB/POZ domain containing"""	25888	protein-coding gene	gene with protein product			"""kelch-like 22 (Drosophila)"""			12477932	Standard	NM_032775		Approved	FLJ14360, KELCHL	uc002zsl.2	Q53GT1	OTTHUMG00000150778	ENST00000328879.4:c.1051G>A	chr22.hg19:g.20819206C>T	ENSP00000331682:p.Val351Ile	48.0	0.0		31.0	10.0	NM_032775	A8K3Q4|A8MTV3|B7Z2G1|D3DX30|Q96B68|Q96KC6	Missense_Mutation	SNP	ENST00000328879.4	hg19	CCDS13780.1	.	.	.	.	.	.	.	.	.	.	C	19.77	3.890168	0.72524	0.0	2.33E-4	ENSG00000099910	ENST00000328879;ENST00000440659	T;T	0.63744	-0.06;-0.06	5.42	5.42	0.78866	Kelch-type beta propeller (1);	0.119762	0.56097	D	0.000033	T	0.55289	0.1911	N	0.21282	0.65	0.50313	D	0.999869	D;D	0.56968	0.978;0.957	P;B	0.47206	0.541;0.387	T	0.56396	-0.7986	10	0.38643	T	0.18	.	16.693	0.85327	0.0:1.0:0.0:0.0	.	208;351	B7Z2G1;Q53GT1	.;KLH22_HUMAN	I	351;208	ENSP00000331682:V351I;ENSP00000405521:V208I	ENSP00000331682:V351I	V	-	1	0	KLHL22	19149206	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	4.578000	0.60929	2.531000	0.85337	0.655000	0.94253	GTA	.	.		0.557	KLHL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320045.2	NM_032775	
PLXNB2	23654	hgsc.bcm.edu	37	22	50722376	50722376	+	Silent	SNP	C	C	G			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr22:50722376C>G	ENST00000449103.1	-	14	2447	c.2307G>C	c.(2305-2307)ctG>ctC	p.L769L	PLXNB2_ENST00000359337.4_Silent_p.L769L|PLXNB2_ENST00000496720.1_5'UTR			O15031	PLXB2_HUMAN	plexin B2	769					brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CGGCCCGGCACAGGCTGCAGT	0.697																																					p.L769L		Atlas-SNP	.											.	PLXNB2	172	.	0			c.G2307C						.						12.0	18.0	16.0					22																	50722376		2009	4127	6136	SO:0001819	synonymous_variant	23654	exon14			CCGGCACAGGCTG		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.2307G>C	chr22.hg19:g.50722376C>G		40.0	0.0		32.0	10.0	NM_012401	A6QRH0|Q7KZU3|Q9BSU7	Silent	SNP	ENST00000449103.1	hg19	CCDS43035.1																																																																																			.	.		0.697	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401	
TBL1X	6907	hgsc.bcm.edu	37	X	9677307	9677307	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chrX:9677307A>G	ENST00000217964.7	+	14	1896	c.1256A>G	c.(1255-1257)aAa>aGa	p.K419R	TBL1X_ENST00000380961.1_Missense_Mutation_p.K368R|TBL1X_ENST00000407597.2_Missense_Mutation_p.K419R|TBL1X_ENST00000536365.1_Missense_Mutation_p.K368R|TBL1X_ENST00000424279.1_Missense_Mutation_p.K368R	NM_005647.3	NP_005638.1	O60907	TBL1X_HUMAN	transducin (beta)-like 1X-linked	419					canonical Wnt signaling pathway (GO:0060070)|cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|proteolysis (GO:0006508)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|histone binding (GO:0042393)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2)	20		Hepatocellular(5;0.000888)				AACGCCATCAAATGGGATCCG	0.527											OREG0019658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.K419R		Atlas-SNP	.											.	TBL1X	103	.	0			c.A1256G						.						113.0	78.0	90.0					X																	9677307		2203	4300	6503	SO:0001583	missense	6907	exon14			CCATCAAATGGGA	Y12781	CCDS14133.1, CCDS48078.1	Xp22.3	2013-01-10	2002-05-22	2002-05-24	ENSG00000101849	ENSG00000101849		"""WD repeat domain containing"""	11585	protein-coding gene	gene with protein product		300196	"""transducin (beta)-like 1"""	TBL1		10330347	Standard	NM_005647		Approved	EBI	uc004csr.3	O60907	OTTHUMG00000021117	ENST00000217964.7:c.1256A>G	chrX.hg19:g.9677307A>G	ENSP00000217964:p.Lys419Arg	169.0	0.0	658	135.0	50.0	NM_001139466	A8K044|A8K4J7|Q86UY2	Missense_Mutation	SNP	ENST00000217964.7	hg19	CCDS14133.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.120678	0.77323	.	.	ENSG00000101849	ENST00000407597;ENST00000424279;ENST00000536365;ENST00000380961;ENST00000217964	T;T;T;T;T	0.60424	0.19;0.19;0.19;0.19;0.19	4.03	4.03	0.46877	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.50292	0.1607	N	0.04355	-0.22	0.58432	D	0.999998	D;D	0.63880	0.993;0.965	D;D	0.63381	0.914;0.914	T	0.54262	-0.8320	10	0.30854	T	0.27	.	12.8926	0.58080	1.0:0.0:0.0:0.0	.	382;419	Q59F53;O60907	.;TBL1X_HUMAN	R	419;368;368;368;419	ENSP00000385988:K419R;ENSP00000394097:K368R;ENSP00000445317:K368R;ENSP00000370348:K368R;ENSP00000217964:K419R	ENSP00000217964:K419R	K	+	2	0	TBL1X	9637307	1.000000	0.71417	0.978000	0.43139	0.951000	0.60555	8.650000	0.91073	1.569000	0.49696	0.481000	0.45027	AAA	.	.		0.527	TBL1X-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055709.1	NM_005647	
JADE3	9767	hgsc.bcm.edu	37	X	46893038	46893038	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chrX:46893038C>T	ENST00000218343.4	+	7	1001	c.703C>T	c.(703-705)Ctc>Ttc	p.L235F	PHF16_ENST00000397189.1_Missense_Mutation_p.L235F	NM_014735.3	NP_055550.1														NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						CTATGGCATCCTCAAGGTCCC	0.532																																					p.L235F		Atlas-SNP	.											.	PHF16	72	.	0			c.C703T						.						123.0	77.0	93.0					X																	46893038		2203	4300	6503	SO:0001583	missense	9767	exon7			GGCATCCTCAAGG																												ENST00000218343.4:c.703C>T	chrX.hg19:g.46893038C>T	ENSP00000218343:p.Leu235Phe	118.0	0.0		186.0	9.0	NM_001077445		Missense_Mutation	SNP	ENST00000218343.4	hg19	CCDS14271.1	.	.	.	.	.	.	.	.	.	.	c	21.3	4.122821	0.77436	.	.	ENSG00000102221	ENST00000397189;ENST00000218343	D;D	0.87809	-2.3;-2.3	5.39	5.39	0.77823	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.063541	0.64402	D	0.000008	D	0.90133	0.6917	M	0.66439	2.03	0.45962	D	0.998785	P	0.46277	0.875	P	0.54590	0.756	D	0.90341	0.4359	10	0.54805	T	0.06	.	11.9528	0.52964	0.0:0.9071:0.0:0.0929	.	235	Q92613	JADE3_HUMAN	F	235	ENSP00000380373:L235F;ENSP00000218343:L235F	ENSP00000218343:L235F	L	+	1	0	PHF16	46777982	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.210000	0.42816	2.240000	0.73641	0.591000	0.81541	CTC	.	.		0.532	PHF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056376.1		
IQSEC2	23096	hgsc.bcm.edu	37	X	53279807	53279807	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chrX:53279807G>T	ENST00000375368.5	-	4	2121	c.1921C>A	c.(1921-1923)Cct>Act	p.P641T	IQSEC2_ENST00000375365.2_Missense_Mutation_p.P446T|IQSEC2_ENST00000396435.3_Missense_Mutation_p.P651T			Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	641	Pro-rich.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						gggccttcaggggctgggTAG	0.701																																					p.P651T		Atlas-SNP	.											.	IQSEC2	195	.	0			c.C1951A						.						13.0	16.0	15.0					X																	53279807		2165	4215	6380	SO:0001583	missense	23096	exon5			CTTCAGGGGCTGG	AB011094	CCDS35298.1, CCDS48130.1	Xp11.23	2014-01-31			ENSG00000124313	ENSG00000124313			29059	protein-coding gene	gene with protein product		300522	"""mental retardation, X-linked 1 (non-dysmorphic)"""	MRX1		9628581, 20473311	Standard	NM_001243197		Approved	KIAA0522	uc004dsd.3	Q5JU85	OTTHUMG00000021608	ENST00000375368.5:c.1921C>A	chrX.hg19:g.53279807G>T	ENSP00000364517:p.Pro641Thr	73.0	0.0		80.0	22.0	NM_001111125	B3KT97|C7SDG1|O60275|Q5JUX1	Missense_Mutation	SNP	ENST00000375368.5	hg19		.	.	.	.	.	.	.	.	.	.	g	14.11	2.436633	0.43224	.	.	ENSG00000124313	ENST00000396435;ENST00000375368;ENST00000375365	T;T;T	0.11821	2.74;2.74;2.74	5.37	5.37	0.77165	.	0.448137	0.23319	N	0.049468	T	0.15219	0.0367	N	0.08118	0	0.52099	D	0.999941	D;D	0.59767	0.986;0.981	P;P	0.56563	0.801;0.732	T	0.30446	-0.9978	10	0.28530	T	0.3	.	16.8728	0.86044	0.0:0.0:1.0:0.0	.	651;446	Q5JU85-2;Q5JU85-3	.;.	T	651;641;446	ENSP00000379712:P651T;ENSP00000364517:P641T;ENSP00000364514:P446T	ENSP00000364514:P446T	P	-	1	0	IQSEC2	53296532	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.076000	0.76806	2.246000	0.74042	0.597000	0.82753	CCT	.	.		0.701	IQSEC2-201	KNOWN	basic	protein_coding	protein_coding		XM_291345	
HUWE1	10075	hgsc.bcm.edu	37	X	53591649	53591649	+	Silent	SNP	A	A	G			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chrX:53591649A>G	ENST00000342160.3	-	50	7372	c.6915T>C	c.(6913-6915)gaT>gaC	p.D2305D	HUWE1_ENST00000262854.6_Silent_p.D2305D			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2305	Glu-rich.				base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TGACATCATGATCCTCCTCCT	0.532																																					p.D2305D		Atlas-SNP	.											.	HUWE1	724	.	0			c.T6915C						.						186.0	124.0	145.0					X																	53591649		2203	4300	6503	SO:0001819	synonymous_variant	10075	exon51			ATCATGATCCTCC	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.6915T>C	chrX.hg19:g.53591649A>G		71.0	0.0		78.0	23.0	NM_031407	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Silent	SNP	ENST00000342160.3	hg19	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	A	7.025	0.559405	0.13436	.	.	ENSG00000086758	ENST00000427052	.	.	.	5.44	4.26	0.50523	.	.	.	.	.	T	0.56277	0.1974	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54390	-0.8301	4	.	.	.	.	6.6606	0.23012	0.8091:0.0:0.1909:0.0	.	.	.	.	P	1339	.	.	S	-	1	0	HUWE1	53608374	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.539000	0.45718	1.813000	0.52934	0.417000	0.27973	TCA	.	.		0.532	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119	
APEX2	27301	hgsc.bcm.edu	37	X	55026952	55026952	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chrX:55026952G>A	ENST00000374987.3	+	1	163	c.97G>A	c.(97-99)Ggg>Agg	p.G33R	PFKFB1_ENST00000545676.1_5'Flank|APEX2_ENST00000471758.1_3'UTR	NM_014481.2	NP_055296.2	Q9UBZ4	APEX2_HUMAN	APEX nuclease (apurinic/apyrimidinic endonuclease) 2	33					base-excision repair (GO:0006284)|cell cycle (GO:0007049)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008311)|zinc ion binding (GO:0008270)			breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1)	21						CGTGGCCGTGGGGCGCATTTT	0.552								Other BER factors																													p.G33R		Atlas-SNP	.											.	APEX2	50	.	0			c.G97A						.						83.0	55.0	64.0					X																	55026952		2203	4300	6503	SO:0001583	missense	27301	exon1			GCCGTGGGGCGCA	AB021260	CCDS14365.1	Xp11.23	2014-02-18			ENSG00000169188	ENSG00000169188	4.2.99.18		17889	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 2"""	300773				11376153	Standard	NM_014481		Approved	APEXL2, APE2, XTH2, ZGRF2	uc004dtz.4	Q9UBZ4	OTTHUMG00000021642	ENST00000374987.3:c.97G>A	chrX.hg19:g.55026952G>A	ENSP00000364126:p.Gly33Arg	128.0	0.0		143.0	48.0	NM_014481	Q9Y5X7	Missense_Mutation	SNP	ENST00000374987.3	hg19	CCDS14365.1	.	.	.	.	.	.	.	.	.	.	G	1.756	-0.488033	0.04352	.	.	ENSG00000169188	ENST00000374987	T	0.79554	-1.28	4.28	-0.352	0.12598	Endonuclease/exonuclease/phosphatase (2);	0.854101	0.09910	N	0.739931	T	0.41971	0.1182	N	0.00450	-1.49	0.09310	N	1	B	0.09022	0.002	B	0.16289	0.015	T	0.42275	-0.9461	10	0.10377	T	0.69	-0.2934	3.5056	0.07689	0.4379:0.2004:0.3617:0.0	.	33	Q9UBZ4	APEX2_HUMAN	R	33	ENSP00000364126:G33R	ENSP00000364126:G33R	G	+	1	0	APEX2	55043677	0.472000	0.25870	0.064000	0.19789	0.736000	0.42039	0.035000	0.13797	-0.044000	0.13491	0.544000	0.68410	GGG	.	.		0.552	APEX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056845.1		
MED12	9968	hgsc.bcm.edu	37	X	70354642	70354642	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chrX:70354642C>A	ENST00000374080.3	+	35	4839	c.4807C>A	c.(4807-4809)Caa>Aaa	p.Q1603K	MED12_ENST00000333646.6_Missense_Mutation_p.Q1603K|MED12_ENST00000374102.1_Missense_Mutation_p.Q1603K			Q93074	MED12_HUMAN	mediator complex subunit 12	1603					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					TAGCATCTCGCAAGGTAGCAT	0.517			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																														p.Q1603K		Atlas-SNP	.		Dom	yes		X	Xq13	9968	mediator complex subunit 12	Yes	M	.	MED12	984	.	0			c.C4807A						.						104.0	89.0	94.0					X																	70354642		2062	4192	6254	SO:0001583	missense	9968	exon35			ATCTCGCAAGGTA	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.4807C>A	chrX.hg19:g.70354642C>A	ENSP00000363193:p.Gln1603Lys	199.0	0.0		188.0	61.0	NM_005120	O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	hg19	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	-	18.36	3.605928	0.66445	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072;ENST00000439750	T;T;T;T;T	0.61742	0.33;0.08;0.33;0.08;1.39	4.28	4.28	0.50868	.	0.000000	0.85682	D	0.000000	T	0.51466	0.1676	L	0.31752	0.955	0.58432	D	0.999999	P;P;P;P	0.42785	0.762;0.616;0.739;0.79	B;B;P;B	0.44811	0.352;0.221;0.461;0.379	T	0.52434	-0.8576	10	0.35671	T	0.21	-0.2101	16.4023	0.83644	0.0:1.0:0.0:0.0	.	1603;1450;1603;1603	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	K	1603;1603;1603;1603;1571;348	ENSP00000333125:Q1603K;ENSP00000363215:Q1603K;ENSP00000363193:Q1603K;ENSP00000414203:Q1571K;ENSP00000408388:Q348K	ENSP00000333125:Q1603K	Q	+	1	0	MED12	70271367	1.000000	0.71417	0.514000	0.27761	0.707000	0.40811	5.546000	0.67243	2.129000	0.65627	0.529000	0.55759	CAA	.	.		0.517	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120	
LRCH2	57631	hgsc.bcm.edu	37	X	114404863	114404863	+	Splice_Site	SNP	T	T	A			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chrX:114404863T>A	ENST00000317135.8	-	6	1027	c.997A>T	c.(997-999)Agt>Tgt	p.S333C	LRCH2_ENST00000538422.1_Splice_Site_p.S333C	NM_020871.3	NP_065922.3	Q5VUJ6	LRCH2_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 2	333										breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						TTACATTACCTGTCTGTGAGA	0.353																																					p.S333C		Atlas-SNP	.											.	LRCH2	138	.	0			c.A997T						.						109.0	95.0	99.0					X																	114404863		1892	4094	5986	SO:0001630	splice_region_variant	57631	exon6			ATTACCTGTCTGT	AB040928	CCDS48155.1, CCDS59175.1	Xq24	2008-02-05			ENSG00000130224	ENSG00000130224			29292	protein-coding gene	gene with protein product						10819331	Standard	NM_020871		Approved	KIAA1495	uc010nqe.3	Q5VUJ6	OTTHUMG00000022233	ENST00000317135.8:c.998+1A>T	chrX.hg19:g.114404863T>A		202.0	0.0		197.0	54.0	NM_001243963	F5H2T1|Q08AD5|Q9HA88|Q9P233	Missense_Mutation	SNP	ENST00000317135.8	hg19	CCDS48155.1	.	.	.	.	.	.	.	.	.	.	T	17.71	3.457707	0.63401	.	.	ENSG00000130224	ENST00000317135;ENST00000538422	T;T	0.01015	5.5;5.44	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.03651	0.0104	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.79108	0.99;0.992	T	0.65878	-0.6061	10	0.23302	T	0.38	-12.5504	13.7074	0.62648	0.0:0.0:0.0:1.0	.	333;333	Q5VUJ6;F5H2T1	LRCH2_HUMAN;.	C	333	ENSP00000325091:S333C;ENSP00000439366:S333C	ENSP00000325091:S333C	S	-	1	0	LRCH2	114311119	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.662000	0.83803	1.917000	0.55516	0.481000	0.45027	AGT	.	.		0.353	LRCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057971.2	NM_020871	Missense_Mutation
ARHGAP36	158763	hgsc.bcm.edu	37	X	130215821	130215821	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chrX:130215821T>A	ENST00000276211.5	+	2	527	c.182T>A	c.(181-183)cTg>cAg	p.L61Q	ARHGAP36_ENST00000370922.1_Missense_Mutation_p.L49Q|ARHGAP36_ENST00000370921.1_5'Flank	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	61					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						CTGGAGCGTCTGAAGCTGCAA	0.527																																					p.L61Q		Atlas-SNP	.											.	ARHGAP36	171	.	0			c.T182A						.						124.0	107.0	113.0					X																	130215821		2203	4300	6503	SO:0001583	missense	158763	exon2			AGCGTCTGAAGCT		CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"""Rho GTPase activating proteins"""	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.182T>A	chrX.hg19:g.130215821T>A	ENSP00000276211:p.Leu61Gln	88.0	0.0		99.0	27.0	NM_144967	B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Missense_Mutation	SNP	ENST00000276211.5	hg19	CCDS14628.1	.	.	.	.	.	.	.	.	.	.	T	17.08	3.297589	0.60086	.	.	ENSG00000147256	ENST00000276211;ENST00000370922;ENST00000423277;ENST00000412432	T;T;T	0.12569	2.67;2.69;2.71	4.16	4.16	0.48862	.	0.000000	0.36374	N	0.002633	T	0.16471	0.0396	N	0.19112	0.55	0.80722	D	1	D;D;D	0.69078	0.997;0.997;0.995	D;D;D	0.68943	0.961;0.961;0.916	T	0.12041	-1.0563	10	0.13108	T	0.6	.	8.6068	0.33778	0.0:0.0:0.0:1.0	.	30;49;61	Q6ZRI8-2;Q6ZRI8-4;Q6ZRI8	.;.;RHG36_HUMAN	Q	61;49;13;30	ENSP00000276211:L61Q;ENSP00000359960:L49Q;ENSP00000408515:L30Q	ENSP00000276211:L61Q	L	+	2	0	ARHGAP36	130043502	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.868000	0.48436	1.852000	0.53769	0.441000	0.28932	CTG	.	.		0.527	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355073.1	NM_144967	
SLITRK2	84631	hgsc.bcm.edu	37	X	144906061	144906061	+	Silent	SNP	A	A	T			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chrX:144906061A>T	ENST00000370490.1	+	1	6373	c.2118A>T	c.(2116-2118)ggA>ggT	p.G706G	SLITRK2_ENST00000434188.2_Silent_p.G706G|SLITRK2_ENST00000428560.2_Silent_p.G706G|TMEM257_ENST00000408967.2_5'Flank|SLITRK2_ENST00000447897.2_Silent_p.G706G|SLITRK2_ENST00000413937.2_Silent_p.G706G			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	706					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					AGAAGGAAGGAGACCCAGTAG	0.488																																					p.G706G		Atlas-SNP	.											.	SLITRK2	221	.	0			c.A2118T						.						75.0	75.0	75.0					X																	144906061		2203	4300	6503	SO:0001819	synonymous_variant	84631	exon5			GGAAGGAGACCCA	Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"""slit-like 1 (Drosophila)"""	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.2118A>T	chrX.hg19:g.144906061A>T		149.0	0.0		171.0	53.0	NM_001144005	A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Silent	SNP	ENST00000370490.1	hg19	CCDS14680.1																																																																																			.	.		0.488	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539	
PLXNA3	55558	hgsc.bcm.edu	37	X	153690520	153690520	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chrX:153690520G>C	ENST00000369682.3	+	4	1362	c.1187G>C	c.(1186-1188)gGa>gCa	p.G396A		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	396	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CAGCCTCTGGGAGGCCTGCAT	0.632																																					p.G396A		Atlas-SNP	.											.	PLXNA3	156	.	0			c.G1187C						.						44.0	43.0	43.0					X																	153690520		2202	4300	6502	SO:0001583	missense	55558	exon4			CTCTGGGAGGCCT	X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"""Plexins"""	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.1187G>C	chrX.hg19:g.153690520G>C	ENSP00000358696:p.Gly396Ala	174.0	0.0		154.0	37.0	NM_017514	Q5HY36	Missense_Mutation	SNP	ENST00000369682.3	hg19	CCDS14752.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.051905	0.75960	.	.	ENSG00000130827	ENST00000369682	T	0.10288	2.89	4.9	4.9	0.64082	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.26340	0.0643	L	0.55213	1.73	0.80722	D	1	D	0.62365	0.991	D	0.64321	0.924	T	0.00525	-1.1689	10	0.42905	T	0.14	.	15.8369	0.78805	0.0:0.0:1.0:0.0	.	396	P51805	PLXA3_HUMAN	A	396	ENSP00000358696:G396A	ENSP00000358696:G396A	G	+	2	0	PLXNA3	153343714	1.000000	0.71417	0.922000	0.36590	0.458000	0.32498	9.574000	0.98184	2.251000	0.74343	0.597000	0.82753	GGA	.	.		0.632	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514	
LHFPL4	375323	hgsc.bcm.edu	37	3	9594117	9594130	+	Frame_Shift_Del	DEL	CGGTGAAGGAGCCC	CGGTGAAGGAGCCC	-	rs370762541		TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	CGGTGAAGGAGCCC	CGGTGAAGGAGCCC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr3:9594117_9594130delCGGTGAAGGAGCCC	ENST00000287585.6	-	2	519_532	c.234_247delGGGCTCCTTCACCG	c.(232-249)cggggctccttcaccgacfs	p.GSFTD79fs	LHFPL4_ENST00000495730.1_5'Flank	NM_198560.2	NP_940962.1	Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 4	92						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(3)|skin(1)	10	Medulloblastoma(99;0.227)					GTGCTGAAGTCGGTGAAGGAGCCCCGGCAGGTGA	0.654																																					p.79_83del		Atlas-INDEL	.											.	LHFPL4	34	.	0			c.235_248del						.																																			SO:0001589	frameshift_variant	375323	exon2			.	AY278320	CCDS33691.1	3p25.3	2006-06-13			ENSG00000156959	ENSG00000156959			29568	protein-coding gene	gene with protein product		610240				15905332	Standard	NM_198560		Approved		uc003bry.3	Q7Z7J7	OTTHUMG00000155066	ENST00000287585.6:c.234_247delGGGCTCCTTCACCG	chr3.hg19:g.9594117_9594130delCGGTGAAGGAGCCC	ENSP00000287585:p.Gly79fs	107.0	0.0		101.0	11.0	NM_198560	A1L383|A4D0Q5	Frame_Shift_Del	DEL	ENST00000287585.6	hg19	CCDS33691.1																																																																																			.	.		0.654	LHFPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338298.1	NM_198560	
OR6C65	403282	hgsc.bcm.edu	37	12	55795097	55795097	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr12:55795097delC	ENST00000379665.2	+	1	884	c.785delC	c.(784-786)gcafs	p.A262fs		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	262						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						AAAACATCTGCAAAAGAAGGT	0.393																																					p.A262fs		Atlas-INDEL	.											OR6C65,NS,carcinoma,0,1	OR6C65	44	.	0			c.784delG						.						97.0	92.0	94.0					12																	55795097		2203	4300	6503	SO:0001589	frameshift_variant	403282	exon1			.		CCDS31821.1	12q13.2	2013-09-23			ENSG00000205328	ENSG00000205328		"""GPCR / Class A : Olfactory receptors"""	31295	protein-coding gene	gene with protein product							Standard	NM_001005518		Approved		uc010spl.2	A6NJZ3	OTTHUMG00000169955	ENST00000379665.2:c.785delC	chr12.hg19:g.55795097delC	ENSP00000368986:p.Ala262fs	84.0	0.0		83.0	26.0	NM_001005518	B2RNH9	Frame_Shift_Del	DEL	ENST00000379665.2	hg19	CCDS31821.1																																																																																			.	.		0.393	OR6C65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406674.1		
KRTAP29-1	100533177	hgsc.bcm.edu	37	17	39458442	39458443	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	TA	TA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr17:39458442_39458443delTA	ENST00000391353.1	-	1	660_661	c.661_662delTA	c.(661-663)tacfs	p.Y221fs		NM_001257309.1	NP_001244238.1	A8MX34	KR291_HUMAN	keratin associated protein 29-1	221	7 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)											AACAGGCATGTAGAGGGCTGAT	0.49																																					p.221_221del		Atlas-INDEL	.											.	KRTAP29-1	2	.	0			c.662_663del						.																																			SO:0001589	frameshift_variant	100533177	exon1			.		CCDS62183.1	17q21.2	2013-06-20			ENSG00000212658	ENSG00000212658		"""Keratin associated proteins"""	34211	protein-coding gene	gene with protein product							Standard	NM_001257309		Approved	KAP29.2	uc031rai.1	A8MX34	OTTHUMG00000133662	ENST00000391353.1:c.661_662delTA	chr17.hg19:g.39458442_39458443delTA	ENSP00000375148:p.Tyr221fs	134.0	0.0		104.0	39.0	NM_001257309		Frame_Shift_Del	DEL	ENST00000391353.1	hg19																																																																																				.	.		0.490	KRTAP29-1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000257828.2		
CBX4	8535	hgsc.bcm.edu	37	17	77808241	77808246	+	In_Frame_Del	DEL	GTGGTG	GTGGTG	-	rs3833850		TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	GTGGTG	GTGGTG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr17:77808241_77808246delGTGGTG	ENST00000269397.4	-	5	1372_1377	c.1195_1200delCACCAC	c.(1195-1200)caccacdel	p.HH399del		NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	399	His-rich.|Interaction with BMI1.|Poly-His.				chromatin modification (GO:0016568)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein sumoylation (GO:0016925)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|single-stranded RNA binding (GO:0003727)|SUMO binding (GO:0032183)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GGCCGACGGCgtggtggtggtggtgg	0.709																																					p.399_401del		Atlas-INDEL	.											.	CBX4	40	.	0			c.1196_1201del						.																																			SO:0001651	inframe_deletion	8535	exon5			.	AF013956	CCDS32758.1	17q25.3	2010-07-06	2010-06-24		ENSG00000141582	ENSG00000141582			1554	protein-coding gene	gene with protein product	"""NS5ATP1-binding protein 16"", ""Pc class 2 homolog (Drosophila)"""	603079	"""chromobox homolog 4 (Drosophila Pc class)"""			9315667	Standard	NM_003655		Approved	hPC2, PC2, NBP16	uc002jxe.3	O00257	OTTHUMG00000150415	ENST00000269397.4:c.1195_1200delCACCAC	chr17.hg19:g.77808247_77808252delGTGGTG	ENSP00000269397:p.His399_His400del	9.0	0.0		49.0	19.0	NM_003655	B1PJR7|Q6TPI8|Q96C04	In_Frame_Del	DEL	ENST00000269397.4	hg19	CCDS32758.1																																																																																			.	.		0.709	CBX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318007.1	NM_003655	
ELAVL2	1993	hgsc.bcm.edu	37	9	23731126	23731126	+	Intron	DEL	A	A	-			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr9:23731126delA	ENST00000397312.2	-	3	504				ELAVL2_ENST00000544538.1_Intron|ELAVL2_ENST00000223951.6_Intron|ELAVL2_ENST00000380110.4_Intron|ELAVL2_ENST00000380117.1_Intron	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2						regulation of transcription, DNA-templated (GO:0006355)		mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		GCTCTGCCCTAATGAAAAGGA	0.393																																					.		Atlas-INDEL	.											.	ELAVL2	80	.	0			c.230-2T>-						.						101.0	84.0	90.0					9																	23731126		2203	4299	6502	SO:0001627	intron_variant	1993	exon4			.	BC030692	CCDS6515.1, CCDS55298.1	9p21	2013-10-03	2013-10-03		ENSG00000107105	ENSG00000107105		"""RNA binding motif (RRM) containing"""	3313	protein-coding gene	gene with protein product	"""Hu antigen B"""	601673	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2"", ""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B)"""			8812435	Standard	NM_004432		Approved	HuB, HEL-N1	uc003zpu.3	Q12926	OTTHUMG00000019700	ENST00000397312.2:c.230-3T>-	chr9.hg19:g.23731126delA		31.0	0.0		50.0	11.0	NM_004432	D3DRK3|Q13235|Q59G15|Q8NEM4|Q9H1Q8	Splice_Site	DEL	ENST00000397312.2	hg19	CCDS6515.1																																																																																			.	.		0.393	ELAVL2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051943.2	NM_004432	
FAM131C	348487	hgsc.bcm.edu	37	1	16390079	16390092	+	Frame_Shift_Del	DEL	GGGGTCCGCACCCT	GGGGTCCGCACCCT	-	rs35576581|rs549929286	byFrequency	TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	GGGGTCCGCACCCT	GGGGTCCGCACCCT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr1:16390079_16390092delGGGGTCCGCACCCT	ENST00000375662.4	-	2	245_258	c.62_75delAGGGTGCGGACCCC	c.(61-75)cagggtgcggaccccfs	p.QGADP21fs	FAM131C_ENST00000494078.1_Intron	NM_182623.2	NP_872429.2	Q96AQ9	F131C_HUMAN	family with sequence similarity 131, member C	21										large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.32e-08)|COAD - Colon adenocarcinoma(227;5.56e-06)|BRCA - Breast invasive adenocarcinoma(304;9.12e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		CTGGGTTCAAGGGGTCCGCACCCTGGGGCATGGG	0.589																																					p.21_26del		Atlas-INDEL	.											.	FAM131C	21	.	0			c.63_76del						.																																			SO:0001589	frameshift_variant	348487	exon2			.		CCDS41270.1	1p36.13	2008-02-05	2007-03-20	2007-03-20	ENSG00000185519	ENSG00000185519			26717	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 117"""	C1orf117		12477932	Standard	NM_182623		Approved	FLJ36766	uc001axz.4	Q96AQ9	OTTHUMG00000009525	ENST00000375662.4:c.62_75delAGGGTGCGGACCCC	chr1.hg19:g.16390079_16390092delGGGGTCCGCACCCT	ENSP00000364814:p.Gln21fs	100.0	0.0		65.0	17.0	NM_182623	Q5T5Q5|Q8N3X3|Q8N9P9	Frame_Shift_Del	DEL	ENST00000375662.4	hg19	CCDS41270.1																																																																																			.	.		0.589	FAM131C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026319.1	NM_182623	
TRPC6	7225	hgsc.bcm.edu	37	11	101375006	101375006	+	Frame_Shift_Del	DEL	A	A	-	rs200066139		TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr11:101375006delA	ENST00000344327.3	-	2	1118	c.694delT	c.(694-696)tatfs	p.Y232fs	TRPC6_ENST00000526713.1_5'Flank|TRPC6_ENST00000532133.1_Frame_Shift_Del_p.Y232fs|TRPC6_ENST00000360497.4_Frame_Shift_Del_p.Y232fs|TRPC6_ENST00000348423.4_Frame_Shift_Del_p.Y232fs	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	232					aging (GO:0007568)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|ion transmembrane transport (GO:0034220)|platelet activation (GO:0030168)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ion transmembrane transporter activity (GO:0032414)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		ACAATTTCATATTCCTGGCAG	0.468																																					p.Y232fs	Colon(166;1315 1927 11094 12848 34731)	Atlas-INDEL	.											.	TRPC6	132	.	0			c.695delA						.						122.0	111.0	115.0					11																	101375006		2203	4299	6502	SO:0001589	frameshift_variant	7225	exon2			.	AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12338	protein-coding gene	gene with protein product		603652	"""focal segmental glomerulosclerosis 2"""	FSGS2		9925922, 16382100, 15879175	Standard	NM_004621		Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000344327.3:c.694delT	chr11.hg19:g.101375006delA	ENSP00000340913:p.Tyr232fs	51.0	0.0		63.0	13.0	NM_004621	Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Frame_Shift_Del	DEL	ENST00000344327.3	hg19	CCDS8311.1																																																																																			.	.		0.468	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394770.1	NM_004621	
CDC42BPA	8476	hgsc.bcm.edu	37	1	227204675	227204675	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DD-AADF-01A-11D-A40R-10	TCGA-DD-AADF-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	a59f4ad7-f2cf-4109-b2e9-fa35260a2fe0	87a7ce38-2b8a-42a0-b22f-33534f342ff4	g.chr1:227204675delC	ENST00000366769.3	-	32	5878	c.4587delG	c.(4585-4587)cggfs	p.R1530fs	CDC42BPA_ENST00000366767.3_Frame_Shift_Del_p.R1449fs|CDC42BPA_ENST00000366764.2_Frame_Shift_Del_p.R1502fs|CDC42BPA_ENST00000366765.3_Frame_Shift_Del_p.R1543fs|CDC42BPA_ENST00000334218.5_Frame_Shift_Del_p.R1530fs|CDC42BPA_ENST00000366766.2_Frame_Shift_Del_p.R1565fs|CDC42BPA_ENST00000535525.1_Frame_Shift_Del_p.R1510fs	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)											NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				AGGAATAACGCCGCTTATTGT	0.398																																					p.R1530fs		Atlas-INDEL	.											CDC42BPA_ENST00000366769,colon,carcinoma,0,3	CDC42BPA	528	.	0			c.4588delC						.						213.0	201.0	205.0					1																	227204675		2203	4300	6503	SO:0001589	frameshift_variant	8476	exon32			.	U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"""myotonic dystrophy kinase-related Cdc42-binding kinase"""	603412	"""CDC42-binding protein kinase alpha (DMPK-like)"""				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.4587delG	chr1.hg19:g.227204675delC	ENSP00000355731:p.Arg1530fs	103.0	0.0		106.0	31.0	NM_003607		Frame_Shift_Del	DEL	ENST00000366769.3	hg19	CCDS1558.1																																																																																			.	.		0.398	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1	NM_014826	
