#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
MMEL1	79258	hgsc.bcm.edu	37	1	2524344	2524344	+	Silent	SNP	G	G	A			TCGA-QA-A7B7-01A-11D-A32G-10	TCGA-QA-A7B7-10A-01D-A32G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5e551b27-70d1-46fd-9a37-83d2cecac02d	6f59797f-d0a5-43b4-ae29-7f21022909d2	g.chr1:2524344G>A	ENST00000378412.3	-	20	2090	c.1929C>T	c.(1927-1929)caC>caT	p.H643H	MMEL1_ENST00000502556.1_Silent_p.H486H|MMEL1_ENST00000288709.6_Silent_p.H634H			Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	643						endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		GCTCCCGGAAGTGCTGGGTGG	0.602																																					p.H643H		Atlas-SNP	.											.	MMEL1	64	.	0			c.C1929T						.						132.0	108.0	116.0					1																	2524344		2203	4300	6503	SO:0001819	synonymous_variant	79258	exon20			CCGGAAGTGCTGG	AF336981	CCDS30569.1, CCDS30569.2	1p36	2008-02-05			ENSG00000142606	ENSG00000142606			14668	protein-coding gene	gene with protein product			"""membrane metallo-endopeptidase-like 2"""	MMEL2			Standard	NM_033467		Approved	SEP, NL1, NL2, NEPII	uc001ajy.2	Q495T6	OTTHUMG00000000846	ENST00000378412.3:c.1929C>T	chr1.hg19:g.2524344G>A		65.0	0.0		76.0	36.0	NM_033467	B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9	Silent	SNP	ENST00000378412.3	hg19	CCDS30569.2																																																																																			.	.		0.602	MMEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002395.2	NM_033467	
AIM1L	55057	hgsc.bcm.edu	37	1	26655355	26655355	+	Missense_Mutation	SNP	C	C	T			TCGA-QA-A7B7-01A-11D-A32G-10	TCGA-QA-A7B7-10A-01D-A32G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5e551b27-70d1-46fd-9a37-83d2cecac02d	6f59797f-d0a5-43b4-ae29-7f21022909d2	g.chr1:26655355C>T	ENST00000308182.5	-	15	1618	c.1189G>A	c.(1189-1191)Gag>Aag	p.E397K	AIM1L_ENST00000527815.1_Missense_Mutation_p.E568K			Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	397							carbohydrate binding (GO:0030246)			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		ATGGAAGGCTCTGAAAAGTGC	0.592																																					p.E1442K		Atlas-SNP	.											.	AIM1L	98	.	0			c.G4324A						.						72.0	69.0	70.0					1																	26655355		2203	4300	6503	SO:0001583	missense	55057	exon16			AAGGCTCTGAAAA			1p35	2010-07-14			ENSG00000176092	ENSG00000176092			17295	protein-coding gene	gene with protein product	"""beta-gamma crystallin domain containing 2"""						Standard	NM_001039775		Approved	CRYBG2, FLJ38020	uc001bmd.4	Q8N1P7	OTTHUMG00000003490	ENST00000308182.5:c.1189G>A	chr1.hg19:g.26655355C>T	ENSP00000310435:p.Glu397Lys	57.0	0.0		59.0	28.0	NM_001039775	B2RNG3|Q5T137|Q5T150	Missense_Mutation	SNP	ENST00000308182.5	hg19		.	.	.	.	.	.	.	.	.	.	C	17.36	3.370985	0.61624	.	.	ENSG00000176092	ENST00000527815;ENST00000308182	T;T	0.75367	-0.93;-0.93	5.03	5.03	0.67393	Beta/gamma crystallin (1);Gamma-crystallin-related (1);	0.125962	0.52532	D	0.000073	T	0.78704	0.4325	M	0.75085	2.285	0.80722	D	1	D	0.57257	0.979	P	0.51777	0.679	T	0.77395	-0.2604	10	0.33141	T	0.24	.	11.6205	0.51115	0.0:0.9182:0.0:0.0818	.	397	Q8N1P7	AIM1L_HUMAN	K	568;397	ENSP00000433931:E568K;ENSP00000310435:E397K	ENSP00000310435:E397K	E	-	1	0	AIM1L	26527942	0.997000	0.39634	0.998000	0.56505	0.135000	0.20990	3.929000	0.56514	2.607000	0.88179	0.561000	0.74099	GAG	.	.		0.592	AIM1L-201	KNOWN	basic	protein_coding	protein_coding		NM_001039775.2	
PCSK9	255738	hgsc.bcm.edu	37	1	55527146	55527146	+	Missense_Mutation	SNP	G	G	A			TCGA-QA-A7B7-01A-11D-A32G-10	TCGA-QA-A7B7-10A-01D-A32G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5e551b27-70d1-46fd-9a37-83d2cecac02d	6f59797f-d0a5-43b4-ae29-7f21022909d2	g.chr1:55527146G>A	ENST00000302118.5	+	11	2070	c.1780G>A	c.(1780-1782)Gcc>Acc	p.A594T	PCSK9_ENST00000543384.1_3'UTR|PCSK9_ENST00000490692.1_3'UTR	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	594	C-terminal domain.				apoptotic process (GO:0006915)|cellular response to insulin stimulus (GO:0032869)|cellular response to starvation (GO:0009267)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|kidney development (GO:0001822)|lipoprotein metabolic process (GO:0042157)|liver development (GO:0001889)|low-density lipoprotein particle receptor catabolic process (GO:0032802)|lysosomal transport (GO:0007041)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of receptor recycling (GO:0001920)|neurogenesis (GO:0022008)|neuron differentiation (GO:0030182)|phospholipid metabolic process (GO:0006644)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of receptor internalization (GO:0002092)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)|regulation of neuron apoptotic process (GO:0043523)|regulation of receptor activity (GO:0010469)|triglyceride metabolic process (GO:0006641)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	apolipoprotein binding (GO:0034185)|apolipoprotein receptor binding (GO:0034190)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein particle receptor binding (GO:0050750)|poly(A) RNA binding (GO:0044822)|protein self-association (GO:0043621)|serine-type endopeptidase activity (GO:0004252)|sodium channel inhibitor activity (GO:0019871)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						CCACAGGGAGGCCAGCATCCA	0.652																																					p.A594T	Pancreas(137;1454 1827 5886 22361 42375)	Atlas-SNP	.											.	PCSK9	76	.	0			c.G1780A						.						30.0	27.0	28.0					1																	55527146		2201	4299	6500	SO:0001583	missense	255738	exon11			AGGGAGGCCAGCA	AX207686	CCDS603.1	1p34.1-p32	2014-09-17	2003-05-13		ENSG00000169174	ENSG00000169174			20001	protein-coding gene	gene with protein product		607786	"""hypercholesterolemia, autosomal dominant 3"""	HCHOLA3		12552133, 12730697	Standard	NM_174936		Approved	NARC-1, FH3	uc001cyf.2	Q8NBP7	OTTHUMG00000008136	ENST00000302118.5:c.1780G>A	chr1.hg19:g.55527146G>A	ENSP00000303208:p.Ala594Thr	135.0	0.0		176.0	76.0	NM_174936	A8T640|C0JYY9|Q5PSM5|Q5SZQ2	Missense_Mutation	SNP	ENST00000302118.5	hg19	CCDS603.1	.	.	.	.	.	.	.	.	.	.	G	13.73	2.325484	0.41197	.	.	ENSG00000169174	ENST00000302118	T	0.71341	-0.56	3.82	2.87	0.33458	.	0.619911	0.12806	U	0.437547	T	0.59266	0.2181	L	0.36672	1.1	0.27995	N	0.93551	B	0.28713	0.22	B	0.21708	0.036	T	0.56523	-0.7965	10	0.49607	T	0.09	-13.7968	11.8331	0.52307	0.0951:0.0:0.9049:0.0	.	594	Q8NBP7	PCSK9_HUMAN	T	594	ENSP00000303208:A594T	ENSP00000303208:A594T	A	+	1	0	PCSK9	55299734	0.555000	0.26530	0.867000	0.34043	0.043000	0.13939	1.485000	0.35519	1.830000	0.53286	0.456000	0.33151	GCC	.	.		0.652	PCSK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022280.1	NM_174936	
EFCAB7	84455	hgsc.bcm.edu	37	1	63998376	63998376	+	Silent	SNP	C	C	T			TCGA-QA-A7B7-01A-11D-A32G-10	TCGA-QA-A7B7-10A-01D-A32G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5e551b27-70d1-46fd-9a37-83d2cecac02d	6f59797f-d0a5-43b4-ae29-7f21022909d2	g.chr1:63998376C>T	ENST00000371088.4	+	4	681	c.435C>T	c.(433-435)gcC>gcT	p.A145A	RN7SL488P_ENST00000585186.1_RNA	NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN	EF-hand calcium binding domain 7	145	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						AAGTAAATGCCATAATAAATT	0.328																																					p.A145A		Atlas-SNP	.											.	EFCAB7	45	.	0			c.C435T						.						117.0	118.0	118.0					1																	63998376		2203	4298	6501	SO:0001819	synonymous_variant	84455	exon4			AAATGCCATAATA	BC015814	CCDS30737.1	1p31.3	2013-01-10			ENSG00000203965	ENSG00000203965		"""EF-hand domain containing"""	29379	protein-coding gene	gene with protein product						11347906	Standard	NM_032437		Approved	KIAA1799, RP4-534K7.1	uc001dbf.3	A8K855	OTTHUMG00000008983	ENST00000371088.4:c.435C>T	chr1.hg19:g.63998376C>T		274.0	1.0		316.0	123.0	NM_032437	Q658P0|Q96B95|Q96JM6	Silent	SNP	ENST00000371088.4	hg19	CCDS30737.1																																																																																			.	.		0.328	EFCAB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024910.1	NM_032437	
AGL	178	hgsc.bcm.edu	37	1	100350158	100350158	+	Silent	SNP	T	T	C			TCGA-QA-A7B7-01A-11D-A32G-10	TCGA-QA-A7B7-10A-01D-A32G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5e551b27-70d1-46fd-9a37-83d2cecac02d	6f59797f-d0a5-43b4-ae29-7f21022909d2	g.chr1:100350158T>C	ENST00000294724.4	+	20	3058	c.2580T>C	c.(2578-2580)gtT>gtC	p.V860V	AGL_ENST00000361522.4_Silent_p.V843V|AGL_ENST00000370165.3_Silent_p.V860V|AGL_ENST00000370163.3_Silent_p.V860V|AGL_ENST00000361302.3_Silent_p.V844V|AGL_ENST00000370161.2_Silent_p.V844V|AGL_ENST00000361915.3_Silent_p.V860V	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	860					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		AAGTCGCTGTTGGAATTCTTC	0.333																																					p.V860V		Atlas-SNP	.											.	AGL	137	.	0			c.T2580C						.						76.0	74.0	74.0					1																	100350158		2203	4300	6503	SO:0001819	synonymous_variant	178	exon20			CGCTGTTGGAATT	BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"""glycogen debranching enzyme"", ""glycogen storage disease type III"""	610860	"""amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"""			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.2580T>C	chr1.hg19:g.100350158T>C		173.0	0.0		188.0	69.0	NM_000644	A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Silent	SNP	ENST00000294724.4	hg19	CCDS759.1																																																																																			.	.		0.333	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	NM_000028	
MAN1A2	10905	hgsc.bcm.edu	37	1	118065534	118065534	+	Silent	SNP	A	A	G			TCGA-QA-A7B7-01A-11D-A32G-10	TCGA-QA-A7B7-10A-01D-A32G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5e551b27-70d1-46fd-9a37-83d2cecac02d	6f59797f-d0a5-43b4-ae29-7f21022909d2	g.chr1:118065534A>G	ENST00000356554.3	+	13	2616	c.1881A>G	c.(1879-1881)ttA>ttG	p.L627L		NM_006699.3	NP_006690.1	O60476	MA1A2_HUMAN	mannosidase, alpha, class 1A, member 2	627					cellular protein metabolic process (GO:0044267)|lung alveolus development (GO:0048286)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	27	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)		TGCCTGTGTTACATTTAGCCA	0.423																																					p.L627L	Ovarian(33;199 881 8228 13687 31538)	Atlas-SNP	.											.	MAN1A2	50	.	0			c.A1881G						.						146.0	139.0	142.0					1																	118065534		2203	4299	6502	SO:0001819	synonymous_variant	10905	exon13			TGTGTTACATTTA	AF027156	CCDS895.1	1p13	2008-02-05			ENSG00000198162	ENSG00000198162			6822	protein-coding gene	gene with protein product		604345				9592125	Standard	NM_006699		Approved	MAN1B	uc001ehd.1	O60476	OTTHUMG00000012149	ENST00000356554.3:c.1881A>G	chr1.hg19:g.118065534A>G		76.0	0.0		78.0	43.0	NM_006699	Q9H510	Silent	SNP	ENST00000356554.3	hg19	CCDS895.1	.	.	.	.	.	.	.	.	.	.	A	7.714	0.695836	0.15106	.	.	ENSG00000198162	ENST00000421535	.	.	.	5.93	1.71	0.24356	.	.	.	.	.	T	0.35008	0.0917	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.16778	-1.0391	4	.	.	.	-12.3858	4.8577	0.13568	0.5027:0.1579:0.3394:0.0	.	.	.	.	A	194	.	.	T	+	1	0	MAN1A2	117867057	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	1.808000	0.38912	0.033000	0.15463	0.454000	0.30748	ACA	.	.		0.423	MAN1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033593.1	NM_006699	
HMCN1	83872	hgsc.bcm.edu	37	1	186017888	186017888	+	Missense_Mutation	SNP	A	A	G			TCGA-QA-A7B7-01A-11D-A32G-10	TCGA-QA-A7B7-10A-01D-A32G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5e551b27-70d1-46fd-9a37-83d2cecac02d	6f59797f-d0a5-43b4-ae29-7f21022909d2	g.chr1:186017888A>G	ENST00000271588.4	+	42	6723	c.6494A>G	c.(6493-6495)cAg>cGg	p.Q2165R	HMCN1_ENST00000367492.2_Missense_Mutation_p.Q2165R	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2165	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						GAAGATGCTCAGGTTCAAGAC	0.328																																					p.Q2165R		Atlas-SNP	.											.	HMCN1	797	.	0			c.A6494G						.						98.0	100.0	99.0					1																	186017888		2203	4300	6503	SO:0001583	missense	83872	exon42			ATGCTCAGGTTCA	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.6494A>G	chr1.hg19:g.186017888A>G	ENSP00000271588:p.Gln2165Arg	86.0	0.0		129.0	27.0	NM_031935	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	hg19	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.625992	0.87560	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.67865	-0.29;-0.29	5.08	5.08	0.68730	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.62146	0.2404	L	0.31157	0.91	0.58432	D	0.999999	P	0.49961	0.93	P	0.50192	0.634	T	0.58002	-0.7713	10	0.18276	T	0.48	.	15.1496	0.72687	1.0:0.0:0.0:0.0	.	2165	Q96RW7	HMCN1_HUMAN	R	2165	ENSP00000271588:Q2165R;ENSP00000356462:Q2165R	ENSP00000271588:Q2165R	Q	+	2	0	HMCN1	184284511	1.000000	0.71417	0.975000	0.42487	0.991000	0.79684	8.910000	0.92685	2.026000	0.59711	0.455000	0.32223	CAG	.	.		0.328	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	
SPATA17	128153	hgsc.bcm.edu	37	1	217915436	217915436	+	Missense_Mutation	SNP	A	A	T			TCGA-QA-A7B7-01A-11D-A32G-10	TCGA-QA-A7B7-10A-01D-A32G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5e551b27-70d1-46fd-9a37-83d2cecac02d	6f59797f-d0a5-43b4-ae29-7f21022909d2	g.chr1:217915436A>T	ENST00000366933.4	+	6	570	c.515A>T	c.(514-516)aAg>aTg	p.K172M		NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	172						cytoplasm (GO:0005737)				endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		CTCAGCACAAAGCAGGTTGGT	0.468																																					p.K172M		Atlas-SNP	.											.	SPATA17	59	.	0			c.A515T						.						167.0	159.0	162.0					1																	217915436		2203	4300	6503	SO:0001583	missense	128153	exon6			GCACAAAGCAGGT	AK098591	CCDS1519.1	1q41	2008-02-05			ENSG00000162814	ENSG00000162814			25184	protein-coding gene	gene with protein product	"""IQ motif containing H"""	611032				16395525	Standard	NM_138796		Approved	IQCH	uc001hlh.1	Q96L03	OTTHUMG00000037875	ENST00000366933.4:c.515A>T	chr1.hg19:g.217915436A>T	ENSP00000355900:p.Lys172Met	50.0	0.0		69.0	42.0	NM_138796	A5D6N2	Missense_Mutation	SNP	ENST00000366933.4	hg19	CCDS1519.1	.	.	.	.	.	.	.	.	.	.	A	19.10	3.762650	0.69763	.	.	ENSG00000162814	ENST00000366933	T	0.51574	0.7	5.83	4.69	0.59074	.	0.560746	0.20316	N	0.094740	T	0.55305	0.1912	M	0.69823	2.125	0.37495	D	0.916542	D	0.53885	0.963	P	0.49502	0.613	T	0.60110	-0.7327	10	0.34782	T	0.22	-6.15	13.2872	0.60249	0.868:0.132:0.0:0.0	.	172	Q96L03	SPT17_HUMAN	M	172	ENSP00000355900:K172M	ENSP00000355900:K172M	K	+	2	0	SPATA17	215982059	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.983000	0.56916	0.990000	0.38787	0.528000	0.53228	AAG	.	.		0.468	SPATA17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092433.2	NM_138796	
TARBP1	6894	hgsc.bcm.edu	37	1	234614188	234614188	+	Missense_Mutation	SNP	A	A	G	rs12082990		TCGA-QA-A7B7-01A-11D-A32G-10	TCGA-QA-A7B7-10A-01D-A32G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5e551b27-70d1-46fd-9a37-83d2cecac02d	6f59797f-d0a5-43b4-ae29-7f21022909d2	g.chr1:234614188A>G	ENST00000040877.1	-	1	661	c.662T>C	c.(661-663)cTg>cCg	p.L221P		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	221			L -> P (in dbSNP:rs12082990).		regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			GCCGGACCCCAGGGACGCCCC	0.791																																					p.L221P		Atlas-SNP	.											.	TARBP1	111	.	0			c.T662C						.	G	PRO/LEU	19,1975		0,19,978	1.0	1.0	1.0		662	-0.3	0.0	1	dbSNP_120	1	0,4340		0,0,2170	no	missense	TARBP1	NM_005646.3	98	0,19,3148	GG,GA,AA		0.0,0.9529,0.3	benign	221/1622	234614188	19,6315	997	2170	3167	SO:0001583	missense	6894	exon1			GACCCCAGGGACG		CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"""tRNA methyltransferase 3 homolog (S. cerevisiae)"""	605052	"""Tar (HIV-1) RNA binding protein 1"""			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.662T>C	chr1.hg19:g.234614188A>G	ENSP00000040877:p.Leu221Pro	0.0	0.0		4.0	4.0	NM_005646	Q9H581	Missense_Mutation	SNP	ENST00000040877.1	hg19	CCDS1601.1	.	.	.	.	.	.	.	.	.	.	G	2.049	-0.418136	0.04766	0.009529	0.0	ENSG00000059588	ENST00000040877	T	0.06142	3.34	4.08	-0.306	0.12780	.	1.497540	0.04333	N	0.352680	T	0.02012	0.0063	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42649	-0.9439	10	0.24483	T	0.36	-15.5763	3.6255	0.08112	0.3353:0.0:0.3872:0.2774	rs12082990	221	Q13395	TARB1_HUMAN	P	221	ENSP00000040877:L221P	ENSP00000040877:L221P	L	-	2	0	TARBP1	232680811	0.000000	0.05858	0.004000	0.12327	0.050000	0.14768	-0.190000	0.09615	0.047000	0.15862	-0.684000	0.03749	CTG	.	.		0.791	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092616.1	NM_005646	
HEATR1	55127	hgsc.bcm.edu	37	1	236720605	236720605	+	Missense_Mutation	SNP	C	C	T			TCGA-QA-A7B7-01A-11D-A32G-10	TCGA-QA-A7B7-10A-01D-A32G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5e551b27-70d1-46fd-9a37-83d2cecac02d	6f59797f-d0a5-43b4-ae29-7f21022909d2	g.chr1:236720605C>T	ENST00000366582.3	-	37	5359	c.5245G>A	c.(5245-5247)Gag>Aag	p.E1749K	HEATR1_ENST00000366581.2_Missense_Mutation_p.E1668K	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1749					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			GAGACCAGCTCGCTGGTGTTC	0.512																																					p.E1749K		Atlas-SNP	.											.	HEATR1	197	.	0			c.G5245A						.						71.0	71.0	71.0					1																	236720605		2203	4300	6503	SO:0001583	missense	55127	exon37			CCAGCTCGCTGGT	BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.5245G>A	chr1.hg19:g.236720605C>T	ENSP00000355541:p.Glu1749Lys	129.0	0.0		203.0	64.0	NM_018072	Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	ENST00000366582.3	hg19	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.923011	0.52653	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.64260	-0.09;-0.09	5.36	4.45	0.53987	Armadillo-like helical (1);Armadillo-type fold (1);	0.161191	0.53938	D	0.000044	T	0.63803	0.2542	M	0.70595	2.14	0.80722	D	1	B;D	0.64830	0.006;0.994	B;P	0.45538	0.002;0.484	T	0.65759	-0.6090	10	0.33141	T	0.24	.	14.0273	0.64592	0.0:0.9279:0.0:0.0721	.	1668;1749	Q5T3Q7;Q9H583	.;HEAT1_HUMAN	K	1749;1668	ENSP00000355541:E1749K;ENSP00000355540:E1668K	ENSP00000355540:E1668K	E	-	1	0	HEATR1	234787228	1.000000	0.71417	0.039000	0.18376	0.841000	0.47740	7.254000	0.78329	1.497000	0.48584	0.655000	0.94253	GAG	.	.		0.512	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853	
FMN2	56776	hgsc.bcm.edu	37	1	240370856	240370856	+	Missense_Mutation	SNP	T	T	C			TCGA-QA-A7B7-01A-11D-A32G-10	TCGA-QA-A7B7-10A-01D-A32G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5e551b27-70d1-46fd-9a37-83d2cecac02d	6f59797f-d0a5-43b4-ae29-7f21022909d2	g.chr1:240370856T>C	ENST00000319653.9	+	5	2974	c.2744T>C	c.(2743-2745)cTt>cCt	p.L915P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	915	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCCCCTCCTCTTCCCGGAGCG	0.652																																					p.L915P		Atlas-SNP	.											.	FMN2	451	.	0			c.T2744C						.						41.0	46.0	44.0					1																	240370856		2202	4299	6501	SO:0001583	missense	56776	exon5			CTCCTCTTCCCGG	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.2744T>C	chr1.hg19:g.240370856T>C	ENSP00000318884:p.Leu915Pro	52.0	0.0		132.0	7.0	NM_020066	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	hg19	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	T	8.160	0.789405	0.16258	.	.	ENSG00000155816	ENST00000319653	T	0.65549	-0.16	3.89	-0.223	0.13118	Actin-binding FH2/DRF autoregulatory (1);Formin Homology 1 (1);	0.382297	0.16991	N	0.191281	T	0.58308	0.2113	M	0.87547	2.89	0.09310	N	1	B	0.10296	0.003	B	0.12156	0.007	T	0.52711	-0.8539	9	.	.	.	.	3.2044	0.06661	0.1367:0.0819:0.1414:0.6401	.	915	Q9NZ56	FMN2_HUMAN	P	915	ENSP00000318884:L915P	.	L	+	2	0	FMN2	238437479	0.998000	0.40836	0.000000	0.03702	0.227000	0.25037	0.291000	0.18994	0.167000	0.19631	0.254000	0.18369	CTT	.	.		0.652	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352	
AHCTF1	25909	hgsc.bcm.edu	37	1	247031037	247031037	+	Silent	SNP	G	G	T			TCGA-QA-A7B7-01A-11D-A32G-10	TCGA-QA-A7B7-10A-01D-A32G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5e551b27-70d1-46fd-9a37-83d2cecac02d	6f59797f-d0a5-43b4-ae29-7f21022909d2	g.chr1:247031037G>T	ENST00000391829.2	-	25	3288	c.3165C>A	c.(3163-3165)atC>atA	p.I1055I	AHCTF1_ENST00000366508.1_Silent_p.I1090I|AHCTF1_ENST00000326225.3_Silent_p.I1064I|AHCTF1_ENST00000470300.1_5'UTR			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1055	Disordered. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			ACACATTGTTGATGAAAACAG	0.363																																					p.I1064I	Colon(145;197 1800 4745 15099 26333)	Atlas-SNP	.											.	AHCTF1	187	.	0			c.C3192A						.						127.0	122.0	124.0					1																	247031037		2202	4291	6493	SO:0001819	synonymous_variant	25909	exon25			ATTGTTGATGAAA		CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.3165C>A	chr1.hg19:g.247031037G>T		242.0	1.0		381.0	213.0	NM_015446	A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Silent	SNP	ENST00000391829.2	hg19																																																																																				.	.		0.363	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446	
CAPN13	92291	hgsc.bcm.edu	37	2	31010123	31010123	+	Silent	SNP	G	G	T			TCGA-QA-A7B7-01A-11D-A32G-10	TCGA-QA-A7B7-10A-01D-A32G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5e551b27-70d1-46fd-9a37-83d2cecac02d	6f59797f-d0a5-43b4-ae29-7f21022909d2	g.chr2:31010123G>T	ENST00000295055.8	-	2	245	c.69C>A	c.(67-69)acC>acA	p.T23T	CAPN13_ENST00000534090.2_Silent_p.T23T|CAPN13_ENST00000465960.2_5'UTR	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	23					proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					GATCCCGCAAGGTGGTAAAGT	0.522																																					p.T23T		Atlas-SNP	.											.	CAPN13	70	.	0			c.C69A						.						46.0	47.0	47.0					2																	31010123		1985	4165	6150	SO:0001819	synonymous_variant	92291	exon2			CCGCAAGGTGGTA		CCDS46252.1	2p22-p21	2008-02-05			ENSG00000162949	ENSG00000162949			16663	protein-coding gene	gene with protein product		610228				11675017	Standard	NM_144575		Approved	FLJ23523	uc021vfm.1	Q6MZZ7	OTTHUMG00000152053	ENST00000295055.8:c.69C>A	chr2.hg19:g.31010123G>T		137.0	0.0		154.0	63.0	NM_144575	Q17RF0|Q580X1|Q8TE80	Silent	SNP	ENST00000295055.8	hg19	CCDS46252.1																																																																																			.	.		0.522	CAPN13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325101.2	NM_144575	
SPTBN1	6711	hgsc.bcm.edu	37	2	54859797	54859797	+	Missense_Mutation	SNP	C	C	T			TCGA-QA-A7B7-01A-11D-A32G-10	TCGA-QA-A7B7-10A-01D-A32G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5e551b27-70d1-46fd-9a37-83d2cecac02d	6f59797f-d0a5-43b4-ae29-7f21022909d2	g.chr2:54859797C>T	ENST00000356805.4	+	17	3940	c.3659C>T	c.(3658-3660)gCc>gTc	p.A1220V	SPTBN1_ENST00000333896.5_Missense_Mutation_p.A1207V	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1220					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			ACCATGGACGCCAATGAGGAG	0.498																																					p.A1220V		Atlas-SNP	.											.	SPTBN1	378	.	0			c.C3659T						.						119.0	106.0	111.0					2																	54859797		2203	4300	6503	SO:0001583	missense	6711	exon17			TGGACGCCAATGA		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.3659C>T	chr2.hg19:g.54859797C>T	ENSP00000349259:p.Ala1220Val	85.0	0.0		128.0	50.0	NM_003128	B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	hg19	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.020635	0.93462	.	.	ENSG00000115306	ENST00000356805;ENST00000333896	T;T	0.55234	0.53;0.53	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.67887	0.2941	M	0.79614	2.46	0.80722	D	1	P;P	0.38745	0.593;0.645	B;P	0.48952	0.381;0.596	T	0.66866	-0.5815	10	0.40728	T	0.16	.	19.3216	0.94243	0.0:1.0:0.0:0.0	.	1207;1220	Q01082-3;Q01082	.;SPTB2_HUMAN	V	1220;1207	ENSP00000349259:A1220V;ENSP00000334156:A1207V	ENSP00000334156:A1207V	A	+	2	0	SPTBN1	54713301	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.770000	0.85390	2.573000	0.86826	0.655000	0.94253	GCC	.	.		0.498	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3		
ZNF638	27332	hgsc.bcm.edu	37	2	71654499	71654499	+	Missense_Mutation	SNP	G	G	A			TCGA-QA-A7B7-01A-11D-A32G-10	TCGA-QA-A7B7-10A-01D-A32G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5e551b27-70d1-46fd-9a37-83d2cecac02d	6f59797f-d0a5-43b4-ae29-7f21022909d2	g.chr2:71654499G>A	ENST00000409544.1	+	24	6130	c.5500G>A	c.(5500-5502)Gtt>Att	p.V1834I	ZNF638_ENST00000264447.4_Missense_Mutation_p.V1834I|ZNF638_ENST00000409407.1_Missense_Mutation_p.V774I|ZNF638_ENST00000355812.3_3'UTR	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1834					regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						AAATGAGAATGTTATGGAAGA	0.368																																					p.V1834I		Atlas-SNP	.											.	ZNF638	179	.	0			c.G5500A						.						57.0	58.0	57.0					2																	71654499		2203	4299	6502	SO:0001583	missense	27332	exon24			GAGAATGTTATGG	D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"""RNA binding motif (RRM) containing"""	17894	protein-coding gene	gene with protein product		614349	"""zinc finger, matrin-like"""	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.5500G>A	chr2.hg19:g.71654499G>A	ENSP00000386433:p.Val1834Ile	21.0	0.0		26.0	8.0	NM_014497	B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	ENST00000409544.1	hg19	CCDS1917.1	.	.	.	.	.	.	.	.	.	.	G	4.580	0.107791	0.08780	.	.	ENSG00000075292	ENST00000264447;ENST00000409544;ENST00000409407	T;T;T	0.31247	1.5;1.5;1.89	5.18	0.219	0.15274	.	0.208610	0.29868	N	0.010981	T	0.16685	0.0401	N	0.19112	0.55	0.51482	D	0.999927	B;B	0.11235	0.004;0.003	B;B	0.14578	0.011;0.007	T	0.06110	-1.0845	10	0.36615	T	0.2	-3.0624	7.9563	0.30045	0.4404:0.0:0.5596:0.0	.	1834;1834	Q14966-3;Q14966	.;ZN638_HUMAN	I	1834;1834;774	ENSP00000264447:V1834I;ENSP00000386433:V1834I;ENSP00000386813:V774I	ENSP00000264447:V1834I	V	+	1	0	ZNF638	71508007	0.908000	0.30866	0.730000	0.30809	0.430000	0.31655	-0.019000	0.12546	0.073000	0.16731	0.655000	0.94253	GTT	.	.		0.368	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497	
SH3RF3	344558	hgsc.bcm.edu	37	2	110015366	110015366	+	Missense_Mutation	SNP	C	C	G			TCGA-QA-A7B7-01A-11D-A32G-10	TCGA-QA-A7B7-10A-01D-A32G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5e551b27-70d1-46fd-9a37-83d2cecac02d	6f59797f-d0a5-43b4-ae29-7f21022909d2	g.chr2:110015366C>G	ENST00000309415.6	+	4	1266	c.1266C>G	c.(1264-1266)gaC>gaG	p.D422E		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	422							zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						GGATTGGAGACCTTGCTCATC	0.612																																					p.D422E		Atlas-SNP	.											.	SH3RF3	62	.	0			c.C1266G						.						39.0	44.0	42.0					2																	110015366		2099	4234	6333	SO:0001583	missense	344558	exon4			TGGAGACCTTGCT	AK074131	CCDS74557.1	2q13	2013-01-11	2008-05-14	2008-05-14	ENSG00000172985	ENSG00000172985		"""RING-type (C3HC4) zinc fingers"""	24699	protein-coding gene	gene with protein product			"""SH3 multiple domains 4"""	SH3MD4		16374509	Standard	XM_006712493		Approved	FLJ00204, POSH2	uc010ywt.1	Q8TEJ3	OTTHUMG00000153439	ENST00000309415.6:c.1266C>G	chr2.hg19:g.110015366C>G	ENSP00000309186:p.Asp422Glu	40.0	0.0		60.0	28.0	NM_001099289	A0SDZ7|A8MPR1|Q8NDU1	Missense_Mutation	SNP	ENST00000309415.6	hg19		.	.	.	.	.	.	.	.	.	.	C	0.247	-1.009595	0.02095	.	.	ENSG00000172985	ENST00000418513;ENST00000309415	T;T	0.54279	0.58;2.34	5.0	2.17	0.27698	.	0.461885	0.20658	N	0.088061	T	0.23649	0.0572	.	.	.	0.27209	N	0.959977	B	0.06786	0.001	B	0.08055	0.003	T	0.28364	-1.0046	9	0.02654	T	1	-26.7133	7.2751	0.26279	0.0908:0.3276:0.4999:0.0817	.	422	Q8TEJ3	SH3R3_HUMAN	E	422	ENSP00000414997:D422E;ENSP00000309186:D422E	ENSP00000309186:D422E	D	+	3	2	SH3RF3	109381798	0.171000	0.23029	0.429000	0.26710	0.732000	0.41865	-0.011000	0.12721	0.287000	0.22375	0.561000	0.74099	GAC	.	.		0.612	SH3RF3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001099289	
LCT	3938	hgsc.bcm.edu	37	2	136567036	136567036	+	Missense_Mutation	SNP	C	C	T			TCGA-QA-A7B7-01A-11D-A32G-10	TCGA-QA-A7B7-10A-01D-A32G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5e551b27-70d1-46fd-9a37-83d2cecac02d	6f59797f-d0a5-43b4-ae29-7f21022909d2	g.chr2:136567036C>T	ENST00000264162.2	-	8	2891	c.2881G>A	c.(2881-2883)Gcc>Acc	p.A961T	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	961	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	TTCAGATCGGCATCCAGCTGG	0.517																																					p.A961T		Atlas-SNP	.											.	LCT	309	.	0			c.G2881A						.						95.0	94.0	95.0					2																	136567036		2203	4300	6503	SO:0001583	missense	3938	exon8			GATCGGCATCCAG	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.2881G>A	chr2.hg19:g.136567036C>T	ENSP00000264162:p.Ala961Thr	57.0	0.0		84.0	30.0	NM_002299	Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	hg19	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	C	33	5.215871	0.95104	.	.	ENSG00000115850	ENST00000264162;ENST00000455227	T	0.51071	0.72	5.78	5.78	0.91487	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.258408	0.44483	D	0.000449	T	0.54415	0.1857	N	0.26042	0.785	0.53688	D	0.999979	P	0.46578	0.88	P	0.59221	0.854	T	0.40001	-0.9586	10	0.22706	T	0.39	-23.6568	20.0139	0.97470	0.0:1.0:0.0:0.0	.	961	P09848	LPH_HUMAN	T	961;393	ENSP00000264162:A961T	ENSP00000264162:A961T	A	-	1	0	LCT	136283506	1.000000	0.71417	0.984000	0.44739	0.989000	0.77384	7.818000	0.86416	2.724000	0.93272	0.563000	0.77884	GCC	.	.		0.517	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299	
NEB	4703	hgsc.bcm.edu	37	2	152497166	152497166	+	Missense_Mutation	SNP	T	T	G			TCGA-QA-A7B7-01A-11D-A32G-10	TCGA-QA-A7B7-10A-01D-A32G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5e551b27-70d1-46fd-9a37-83d2cecac02d	6f59797f-d0a5-43b4-ae29-7f21022909d2	g.chr2:152497166T>G	ENST00000172853.10	-	61	8535	c.8388A>C	c.(8386-8388)gaA>gaC	p.E2796D	NEB_ENST00000603639.1_Missense_Mutation_p.E2796D|NEB_ENST00000409198.1_Missense_Mutation_p.E2796D|NEB_ENST00000397345.3_Missense_Mutation_p.E2796D|NEB_ENST00000604864.1_Missense_Mutation_p.E2796D|NEB_ENST00000427231.2_Missense_Mutation_p.E2796D			P20929	NEBU_HUMAN	nebulin	2796					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TACGATAGCCTTCTTTGTACT	0.413																																					p.E2796D		Atlas-SNP	.											.	NEB	1697	.	0			c.A8388C						.						102.0	92.0	95.0					2																	152497166		1836	4090	5926	SO:0001583	missense	4703	exon61			ATAGCCTTCTTTG	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.8388A>C	chr2.hg19:g.152497166T>G	ENSP00000172853:p.Glu2796Asp	109.0	0.0		119.0	47.0	NM_004543	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	hg19		.	.	.	.	.	.	.	.	.	.	T	11.44	1.640068	0.29157	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.57907	0.37;3.34;3.34;0.37	6.17	3.7	0.42460	.	0.247003	0.41097	N	0.000957	T	0.40956	0.1138	L	0.39898	1.24	0.80722	D	1	B	0.12013	0.005	B	0.17979	0.02	T	0.29027	-1.0025	10	0.44086	T	0.13	.	7.9747	0.30149	0.1222:0.0656:0.0:0.8122	.	2796	P20929	NEBU_HUMAN	D	2796	ENSP00000386259:E2796D;ENSP00000380505:E2796D;ENSP00000416578:E2796D;ENSP00000172853:E2796D	ENSP00000172853:E2796D	E	-	3	2	NEB	152205412	0.953000	0.32496	1.000000	0.80357	0.932000	0.56968	1.155000	0.31700	1.161000	0.42604	-0.250000	0.11733	GAA	.	.		0.413	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543	
DNAH7	56171	hgsc.bcm.edu	37	2	196620969	196620969	+	Missense_Mutation	SNP	C	C	T			TCGA-QA-A7B7-01A-11D-A32G-10	TCGA-QA-A7B7-10A-01D-A32G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5e551b27-70d1-46fd-9a37-83d2cecac02d	6f59797f-d0a5-43b4-ae29-7f21022909d2	g.chr2:196620969C>T	ENST00000312428.6	-	62	11574	c.11474G>A	c.(11473-11475)aGc>aAc	p.S3825N	DNAH7_ENST00000409063.1_Missense_Mutation_p.S308N	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3825					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CAAAATGCTGCTAACCACTTC	0.373																																					p.S3825N		Atlas-SNP	.											.	DNAH7	512	.	0			c.G11474A						.						116.0	108.0	111.0					2																	196620969		1841	4099	5940	SO:0001583	missense	56171	exon62			ATGCTGCTAACCA	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.11474G>A	chr2.hg19:g.196620969C>T	ENSP00000311273:p.Ser3825Asn	273.0	0.0		327.0	130.0	NM_018897	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	hg19	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	C	4.034	0.003777	0.07866	.	.	ENSG00000118997	ENST00000312428;ENST00000409063	T;T	0.08282	3.11;3.11	5.23	3.28	0.37604	Dynein heavy chain (1);	0.659459	0.16266	N	0.222030	T	0.02848	0.0085	N	0.03209	-0.39	0.80722	D	1	B	0.02656	0.0	B	0.12837	0.008	T	0.30679	-0.9970	10	0.02654	T	1	.	7.1366	0.25531	0.0:0.7192:0.0:0.2808	.	3825	Q8WXX0	DYH7_HUMAN	N	3825;308	ENSP00000311273:S3825N;ENSP00000386912:S308N	ENSP00000311273:S3825N	S	-	2	0	DNAH7	196329214	0.974000	0.33945	0.999000	0.59377	0.988000	0.76386	0.812000	0.27211	1.427000	0.47276	0.650000	0.86243	AGC	.	.		0.373	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897	
WNT6	7475	hgsc.bcm.edu	37	2	219735837	219735837	+	Missense_Mutation	SNP	G	G	T			TCGA-QA-A7B7-01A-11D-A32G-10	TCGA-QA-A7B7-10A-01D-A32G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5e551b27-70d1-46fd-9a37-83d2cecac02d	6f59797f-d0a5-43b4-ae29-7f21022909d2	g.chr2:219735837G>T	ENST00000233948.3	+	2	386	c.169G>T	c.(169-171)Gct>Tct	p.A57S	WNT6_ENST00000486233.1_Intron	NM_006522.3	NP_006513.1	Q9Y6F9	WNT6_HUMAN	wingless-type MMTV integration site family, member 6	57					axis specification (GO:0009798)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|cornea development in camera-type eye (GO:0061303)|epithelial-mesenchymal cell signaling (GO:0060684)|nephron tubule formation (GO:0072079)|neuron differentiation (GO:0030182)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of gene expression (GO:0010628)|positive regulation of tooth mineralization (GO:0070172)|positive regulation of transcription, DNA-templated (GO:0045893)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			large_intestine(1)|ovary(2)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTTGTGCCAGGCTGAGCCGGA	0.677																																					p.A57S		Atlas-SNP	.											.	WNT6	21	.	0			c.G169T						.						50.0	60.0	57.0					2																	219735837		2203	4298	6501	SO:0001583	missense	7475	exon2			TGCCAGGCTGAGC	AF079522	CCDS2425.1	2q35	2008-05-23			ENSG00000115596	ENSG00000115596		"""Wingless-type MMTV integration sites"""	12785	protein-coding gene	gene with protein product		604663				10343101, 11350055	Standard	NM_006522		Approved		uc002vjc.1	Q9Y6F9	OTTHUMG00000133082	ENST00000233948.3:c.169G>T	chr2.hg19:g.219735837G>T	ENSP00000233948:p.Ala57Ser	87.0	0.0		107.0	47.0	NM_006522	Q9H1J6|Q9H238	Missense_Mutation	SNP	ENST00000233948.3	hg19	CCDS2425.1	.	.	.	.	.	.	.	.	.	.	g	10.25	1.298856	0.23650	.	.	ENSG00000115596	ENST00000233948	T	0.75367	-0.93	5.17	4.29	0.51040	.	0.318671	0.34110	N	0.004243	T	0.49966	0.1588	N	0.08118	0	0.25083	N	0.990915	B	0.16396	0.017	B	0.25614	0.062	T	0.33137	-0.9880	10	0.15952	T	0.53	.	5.9699	0.19346	0.172:0.1704:0.6577:0.0	.	57	Q9Y6F9	WNT6_HUMAN	S	57	ENSP00000233948:A57S	ENSP00000233948:A57S	A	+	1	0	WNT6	219444081	1.000000	0.71417	0.903000	0.35520	0.986000	0.74619	3.299000	0.51826	1.172000	0.42781	0.586000	0.80456	GCT	.	.		0.677	WNT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256727.2	NM_006522	
CADM2	253559	hgsc.bcm.edu	37	3	85935378	85935378	+	Missense_Mutation	SNP	C	C	A			TCGA-QA-A7B7-01A-11D-A32G-10	TCGA-QA-A7B7-10A-01D-A32G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5e551b27-70d1-46fd-9a37-83d2cecac02d	6f59797f-d0a5-43b4-ae29-7f21022909d2	g.chr3:85935378C>A	ENST00000407528.2	+	4	465	c.403C>A	c.(403-405)Cca>Aca	p.P135T	CADM2_ENST00000405615.2_Missense_Mutation_p.P137T|CADM2_ENST00000383699.3_Missense_Mutation_p.P144T	NM_001167674.1	NP_001161146.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	135	Ig-like C2-type 1.				adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|synapse (GO:0045202)				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		ATTCTCATCACCAGTTATGGA	0.388																																					p.P144T		Atlas-SNP	.											.	CADM2	195	.	0			c.C430A						.						101.0	93.0	96.0					3																	85935378		2203	4300	6503	SO:0001583	missense	253559	exon5			TCATCACCAGTTA	AF538973	CCDS33792.1, CCDS54613.1, CCDS54614.1	3p12.2	2013-01-11	2007-02-07	2007-02-07	ENSG00000175161	ENSG00000175161		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	29849	protein-coding gene	gene with protein product	"""nectin-like 3"""	609938	"""immunoglobulin superfamily, member 4D"""	IGSF4D			Standard	NM_153184		Approved	NECL3, Necl-3, SynCAM2	uc003dqj.3	Q8N3J6	OTTHUMG00000158990	ENST00000407528.2:c.403C>A	chr3.hg19:g.85935378C>A	ENSP00000384575:p.Pro135Thr	244.0	0.0		249.0	88.0	NM_001167675	G3XHN7|G3XHN8|Q3KQY9|Q658Q7|Q8IZP8	Missense_Mutation	SNP	ENST00000407528.2	hg19	CCDS54614.1	.	.	.	.	.	.	.	.	.	.	C	12.18	1.859446	0.32884	.	.	ENSG00000175161	ENST00000383699;ENST00000407528;ENST00000405615	T;T;T	0.65549	-0.06;-0.16;-0.14	5.57	5.57	0.84162	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.69682	0.3138	L	0.39397	1.21	0.80722	D	1	D;D;D	0.89917	0.997;1.0;1.0	D;D;D	0.91635	0.947;0.999;0.999	T	0.61282	-0.7094	10	0.02654	T	1	.	19.5761	0.95444	0.0:1.0:0.0:0.0	.	137;144;135	Q8N3J6-3;G3XHN4;Q8N3J6	.;.;CADM2_HUMAN	T	144;135;137	ENSP00000373200:P144T;ENSP00000384575:P135T;ENSP00000384193:P137T	ENSP00000373200:P144T	P	+	1	0	CADM2	86018068	1.000000	0.71417	0.999000	0.59377	0.971000	0.66376	7.442000	0.80503	2.619000	0.88677	0.650000	0.86243	CCA	.	.		0.388	CADM2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352822.1	NM_153184	
EPHA3	2042	hgsc.bcm.edu	37	3	89391190	89391190	+	Missense_Mutation	SNP	G	G	T			TCGA-QA-A7B7-01A-11D-A32G-10	TCGA-QA-A7B7-10A-01D-A32G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5e551b27-70d1-46fd-9a37-83d2cecac02d	6f59797f-d0a5-43b4-ae29-7f21022909d2	g.chr3:89391190G>T	ENST00000336596.2	+	5	1481	c.1256G>T	c.(1255-1257)aGc>aTc	p.S419I	EPHA3_ENST00000452448.2_Missense_Mutation_p.S419I|EPHA3_ENST00000494014.1_Missense_Mutation_p.S419I	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	419	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.S419T(2)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TCAGAGCTGAGCTCCCCACCA	0.473										TSP Lung(6;0.00050)																											p.S419I		Atlas-SNP	.											EPHA3_ENST00000452448,NS,carcinoma,0,2	EPHA3	501	.	2	Substitution - Missense(2)	endometrium(2)	c.G1256T						.						77.0	63.0	68.0					3																	89391190		2203	4300	6503	SO:0001583	missense	2042	exon5			AGCTGAGCTCCCC	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.1256G>T	chr3.hg19:g.89391190G>T	ENSP00000337451:p.Ser419Ile	62.0	0.0		81.0	39.0	NM_005233	Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	hg19	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	G	17.07	3.293997	0.60086	.	.	ENSG00000044524	ENST00000336596;ENST00000452448;ENST00000494014	T;T;T	0.53640	0.61;0.61;0.61	5.53	4.6	0.57074	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.180477	0.64402	D	0.000008	T	0.57946	0.2088	M	0.72479	2.2	0.46874	D	0.999238	P;P	0.39665	0.627;0.682	B;P	0.48030	0.17;0.564	T	0.57159	-0.7859	9	.	.	.	.	16.1804	0.81895	0.0:0.1331:0.8669:0.0	.	419;419	P29320;P29320-2	EPHA3_HUMAN;.	I	419	ENSP00000337451:S419I;ENSP00000399926:S419I;ENSP00000419190:S419I	.	S	+	2	0	EPHA3	89473880	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	5.705000	0.68355	2.763000	0.94921	0.563000	0.77884	AGC	.	.		0.473	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233	
HEG1	57493	hgsc.bcm.edu	37	3	124732434	124732434	+	Silent	SNP	A	A	G	rs374949821		TCGA-QA-A7B7-01A-11D-A32G-10	TCGA-QA-A7B7-10A-01D-A32G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5e551b27-70d1-46fd-9a37-83d2cecac02d	6f59797f-d0a5-43b4-ae29-7f21022909d2	g.chr3:124732434A>G	ENST00000311127.4	-	6	2056	c.1989T>C	c.(1987-1989)tcT>tcC	p.S663S	HEG1_ENST00000477536.1_5'UTR	NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	663	Ser-rich.				cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						aggaggaggaagaggaggagg	0.488																																					p.S663S		Atlas-SNP	.											.	HEG1	109	.	0			c.T1989C						.						60.0	66.0	64.0					3																	124732434		2169	4257	6426	SO:0001819	synonymous_variant	57493	exon6			GGAGGAAGAGGAG	AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"""heart of glass"""	614182	"""HEG homolog 1 (zebrafish)"""			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.1989T>C	chr3.hg19:g.124732434A>G		71.0	0.0		100.0	5.0	NM_020733	Q6NX66|Q8NC40|Q9BSV0	Silent	SNP	ENST00000311127.4	hg19	CCDS46898.1																																																																																			.	.		0.488	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355732.2	XM_087386	
ATP13A4	84239	hgsc.bcm.edu	37	3	193175188	193175188	+	Missense_Mutation	SNP	G	G	A			TCGA-QA-A7B7-01A-11D-A32G-10	TCGA-QA-A7B7-10A-01D-A32G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5e551b27-70d1-46fd-9a37-83d2cecac02d	6f59797f-d0a5-43b4-ae29-7f21022909d2	g.chr3:193175188G>A	ENST00000342695.4	-	15	2063	c.1741C>T	c.(1741-1743)Ccc>Tcc	p.P581S	ATP13A4_ENST00000392443.3_Missense_Mutation_p.P562S	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	581						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		GTTCTGCAGGGCTTAACTACC	0.483																																					p.P581S		Atlas-SNP	.											.	ATP13A4	154	.	0			c.C1741T						.						184.0	185.0	185.0					3																	193175188		2203	4300	6503	SO:0001583	missense	84239	exon15			TGCAGGGCTTAAC	AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"""ATPases / P-type"""	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.1741C>T	chr3.hg19:g.193175188G>A	ENSP00000339182:p.Pro581Ser	169.0	0.0		197.0	81.0	NM_032279	B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Missense_Mutation	SNP	ENST00000342695.4	hg19	CCDS3304.2	.	.	.	.	.	.	.	.	.	.	G	16.30	3.083257	0.55861	.	.	ENSG00000127249	ENST00000392443;ENST00000342695	D;D	0.86627	-1.87;-2.15	4.95	4.95	0.65309	ATPase, cation-transporting, domain N (1);ATPase, P-type, cytoplasmic domain N (1);	0.183867	0.38720	N	0.001594	D	0.92450	0.7603	M	0.67517	2.055	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.92927	0.6360	10	0.62326	D	0.03	-21.5642	16.0609	0.80838	0.0:0.0:1.0:0.0	.	562;581;581	B7WPN9;Q4VNC1-2;Q4VNC1	.;.;AT134_HUMAN	S	562;581	ENSP00000376238:P562S;ENSP00000339182:P581S	ENSP00000339182:P581S	P	-	1	0	ATP13A4	194657882	1.000000	0.71417	1.000000	0.80357	0.333000	0.28666	5.343000	0.65976	2.457000	0.83068	0.655000	0.94253	CCC	.	.		0.483	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279	
CHIC2	26511	hgsc.bcm.edu	37	4	54915246	54915246	+	Missense_Mutation	SNP	T	T	C	rs374480856		TCGA-QA-A7B7-01A-11D-A32G-10	TCGA-QA-A7B7-10A-01D-A32G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5e551b27-70d1-46fd-9a37-83d2cecac02d	6f59797f-d0a5-43b4-ae29-7f21022909d2	g.chr4:54915246T>C	ENST00000263921.3	-	3	595	c.206A>G	c.(205-207)aAc>aGc	p.N69S	FIP1L1_ENST00000507166.1_Intron|CHIC2_ENST00000512964.1_Missense_Mutation_p.N69S	NM_012110.3	NP_036242.1	Q9UKJ5	CHIC2_HUMAN	cysteine-rich hydrophobic domain 2	69						Golgi-associated vesicle (GO:0005798)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4	all_cancers(7;0.0193)|all_neural(26;0.0209)|Lung NSC(11;0.0281)|Glioma(25;0.08)		LUSC - Lung squamous cell carcinoma(32;0.00216)			GTTAACTCTGTTGATGCTGGC	0.363			T	ETV6	AML																																p.N69S		Atlas-SNP	.		Dom	yes		4	4q11-q12	26511	cysteine-rich hydrophobic domain 2		L	.	CHIC2	20	.	0			c.A206G						.	T	SER/ASN	0,4406		0,0,2203	42.0	37.0	39.0		206	3.3	1.0	4		39	1,8595	1.2+/-3.3	0,1,4297	no	missense	CHIC2	NM_012110.3	46	0,1,6500	CC,CT,TT		0.0116,0.0,0.0077	benign	69/166	54915246	1,13001	2203	4298	6501	SO:0001583	missense	26511	exon3			ACTCTGTTGATGC	AF159423	CCDS3493.1	4q12	2013-09-04			ENSG00000109220	ENSG00000109220			1935	protein-coding gene	gene with protein product		604332				10477709	Standard	NM_012110		Approved	BTL	uc003haj.2	Q9UKJ5	OTTHUMG00000102101	ENST00000263921.3:c.206A>G	chr4.hg19:g.54915246T>C	ENSP00000263921:p.Asn69Ser	183.0	0.0		208.0	90.0	NM_012110	B2R639	Missense_Mutation	SNP	ENST00000263921.3	hg19	CCDS3493.1	.	.	.	.	.	.	.	.	.	.	T	2.259	-0.369651	0.05069	0.0	1.16E-4	ENSG00000109220	ENST00000263921;ENST00000512964	.	.	.	5.81	3.35	0.38373	Golgin subfamily A member 7/ERF4 (1);	0.089901	0.85682	D	0.000000	T	0.21674	0.0522	N	0.04203	-0.255	0.46631	D	0.999139	B	0.02656	0.0	B	0.10450	0.005	T	0.18023	-1.0350	9	0.02654	T	1	-24.0801	5.2613	0.15576	0.0:0.188:0.15:0.662	.	69	Q9UKJ5	CHIC2_HUMAN	S	69	.	ENSP00000263921:N69S	N	-	2	0	CHIC2	54610003	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	4.607000	0.61133	0.460000	0.27045	-0.361000	0.07541	AAC	.	.		0.363	CHIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219937.2		
NDNF	79625	hgsc.bcm.edu	37	4	121958596	121958596	+	Missense_Mutation	SNP	G	G	T			TCGA-QA-A7B7-01A-11D-A32G-10	TCGA-QA-A7B7-10A-01D-A32G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5e551b27-70d1-46fd-9a37-83d2cecac02d	6f59797f-d0a5-43b4-ae29-7f21022909d2	g.chr4:121958596G>T	ENST00000379692.4	-	4	1056	c.530C>A	c.(529-531)cCc>cAc	p.P177H	NDNF_ENST00000506900.1_5'UTR	NM_024574.3	NP_078850.3	Q8TB73	NDNF_HUMAN	neuron-derived neurotrophic factor	177					cell growth (GO:0016049)|extracellular matrix organization (GO:0030198)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of neuron projection development (GO:0010976)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						TGGGTCATAGGGTAACTCAGG	0.478																																					p.P177H		Atlas-SNP	.											.	NDNF	72	.	0			c.C530A						.						204.0	205.0	204.0					4																	121958596		2066	4214	6280	SO:0001583	missense	79625	exon4			TCATAGGGTAACT	BC019351	CCDS3717.2	4q27	2011-07-05	2011-07-05	2011-07-05	ENSG00000173376	ENSG00000173376			26256	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 31"""	C4orf31		12975309, 20969804	Standard	NM_024574		Approved	FLJ23191	uc003idq.1	Q8TB73	OTTHUMG00000132973	ENST00000379692.4:c.530C>A	chr4.hg19:g.121958596G>T	ENSP00000369014:p.Pro177His	206.0	0.0		196.0	90.0	NM_024574	A8K0Q0|Q6UWE5|Q9H5P7	Missense_Mutation	SNP	ENST00000379692.4	hg19	CCDS3717.2	.	.	.	.	.	.	.	.	.	.	G	19.56	3.850892	0.71719	.	.	ENSG00000173376	ENST00000379692	T	0.79940	-1.32	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	D	0.89674	0.6783	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89316	0.3636	10	0.87932	D	0	-22.2687	20.6208	0.99490	0.0:0.0:1.0:0.0	.	177	Q8TB73	NDNF_HUMAN	H	177	ENSP00000369014:P177H	ENSP00000369014:P177H	P	-	2	0	NDNF	122178046	1.000000	0.71417	0.584000	0.28653	0.776000	0.43924	9.833000	0.99426	2.882000	0.98803	0.655000	0.94253	CCC	.	.		0.478	NDNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256532.2	NM_024574	
PAPD7	11044	hgsc.bcm.edu	37	5	6737736	6737736	+	Missense_Mutation	SNP	C	C	G			TCGA-QA-A7B7-01A-11D-A32G-10	TCGA-QA-A7B7-10A-01D-A32G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5e551b27-70d1-46fd-9a37-83d2cecac02d	6f59797f-d0a5-43b4-ae29-7f21022909d2	g.chr5:6737736C>G	ENST00000230859.6	+	2	209	c.80C>G	c.(79-81)cCg>cGg	p.P27R		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	257	Ala-rich.				double-strand break repair (GO:0006302)|mitotic chromosome condensation (GO:0007076)|response to drug (GO:0042493)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|SMC family protein binding (GO:0043221)			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GACCTTTGGCCGACGGCTGAT	0.453																																					p.P27R	NSCLC(7;212 333 5667 23379 46547)	Atlas-SNP	.											.	PAPD7	69	.	0			c.C80G						.						251.0	199.0	217.0					5																	6737736		2203	4300	6503	SO:0001583	missense	11044	exon2			TTTGGCCGACGGC	AF089896	CCDS3871.1	5p15	2010-11-18	2010-01-19	2010-01-19	ENSG00000112941	ENSG00000112941			16705	protein-coding gene	gene with protein product	"""topoisomerase-related function protein 4-1"", ""polymerase (DNA-directed) sigma"", ""DNA polymerase kappa"", ""TUTase5"""	605198	"""polymerase (DNA directed) sigma"""	POLS		10066793, 10926539	Standard	NM_006999		Approved	POLK, TRF4, LAK-1, TRF4-1	uc003jdx.1	Q5XG87	OTTHUMG00000090457	ENST00000230859.6:c.80C>G	chr5.hg19:g.6737736C>G	ENSP00000230859:p.Pro27Arg	266.0	0.0		282.0	110.0	NM_001171805	A8K1E2|M1JCE6|O43289|Q17RZ1|Q9Y6C1	Missense_Mutation	SNP	ENST00000230859.6	hg19	CCDS3871.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.732789	0.89482	.	.	ENSG00000112941	ENST00000230859;ENST00000515721	T	0.56611	0.45	5.05	5.05	0.67936	Nucleotidyl transferase domain (1);	0.000000	0.85682	D	0.000000	T	0.75361	0.3839	M	0.84156	2.68	0.80722	D	1	D;D	0.71674	0.998;0.995	D;D	0.74674	0.982;0.984	T	0.79621	-0.1727	10	0.66056	D	0.02	-15.5341	18.4239	0.90602	0.0:1.0:0.0:0.0	.	27;27	B7ZLL4;Q5XG87	.;PAPD7_HUMAN	R	27	ENSP00000230859:P27R	ENSP00000230859:P27R	P	+	2	0	PAPD7	6790736	1.000000	0.71417	0.876000	0.34364	0.978000	0.69477	6.990000	0.76225	2.346000	0.79739	0.484000	0.47621	CCG	.	.		0.453	PAPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206904.1	NM_006999	
LOX	4015	hgsc.bcm.edu	37	5	121411127	121411127	+	Missense_Mutation	SNP	A	A	T			TCGA-QA-A7B7-01A-11D-A32G-10	TCGA-QA-A7B7-10A-01D-A32G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5e551b27-70d1-46fd-9a37-83d2cecac02d	6f59797f-d0a5-43b4-ae29-7f21022909d2	g.chr5:121411127A>T	ENST00000231004.4	-	3	1149	c.850T>A	c.(850-852)Tat>Aat	p.Y284N	SRFBP1_ENST00000504881.1_3'UTR|LOX_ENST00000513319.1_5'UTR	NM_001178102.1|NM_002317.5	NP_001171573.1|NP_002308.2	P28300	LYOX_HUMAN	lysyl oxidase	284	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)		TCCCAGGAATATCTTGGTCGG	0.443																																					p.Y284N		Atlas-SNP	.											.	LOX	29	.	0			c.T850A						.						133.0	127.0	129.0					5																	121411127		2203	4300	6503	SO:0001583	missense	4015	exon3			AGGAATATCTTGG		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.850T>A	chr5.hg19:g.121411127A>T	ENSP00000231004:p.Tyr284Asn	202.0	0.0		220.0	90.0	NM_002317	B2R5Q3|Q5FWF0	Missense_Mutation	SNP	ENST00000231004.4	hg19	CCDS4129.1	.	.	.	.	.	.	.	.	.	.	A	17.87	3.494200	0.64186	.	.	ENSG00000113083	ENST00000231004;ENST00000543620	T	0.29142	1.58	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.41396	0.1157	L	0.54323	1.7	0.58432	D	0.999997	B	0.29188	0.236	B	0.42062	0.374	T	0.39231	-0.9624	10	0.72032	D	0.01	.	15.3085	0.74011	1.0:0.0:0.0:0.0	.	284	P28300	LYOX_HUMAN	N	284;244	ENSP00000231004:Y284N	ENSP00000231004:Y284N	Y	-	1	0	LOX	121439026	1.000000	0.71417	0.896000	0.35187	0.997000	0.91878	5.970000	0.70431	2.080000	0.62538	0.533000	0.62120	TAT	.	.		0.443	LOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250887.2		
PCDHGA12	26025	hgsc.bcm.edu	37	5	140811445	140811445	+	Missense_Mutation	SNP	C	C	A			TCGA-QA-A7B7-01A-11D-A32G-10	TCGA-QA-A7B7-10A-01D-A32G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5e551b27-70d1-46fd-9a37-83d2cecac02d	6f59797f-d0a5-43b4-ae29-7f21022909d2	g.chr5:140811445C>A	ENST00000252085.3	+	1	1261	c.1119C>A	c.(1117-1119)gaC>gaA	p.D373E	PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	373	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)			ATGTAAATGACCAAGATTCTG	0.428																																					p.D373E		Atlas-SNP	.											.	PCDHGA12	271	.	0			c.C1119A						.						52.0	58.0	56.0					5																	140811445		2203	4300	6503	SO:0001583	missense	26025	exon1			AAATGACCAAGAT	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.1119C>A	chr5.hg19:g.140811445C>A	ENSP00000252085:p.Asp373Glu	64.0	0.0		74.0	37.0	NM_032094	O15100|Q6UW70|Q9Y5D7	Missense_Mutation	SNP	ENST00000252085.3	hg19	CCDS4260.1	.	.	.	.	.	.	.	.	.	.	c	16.45	3.125421	0.56721	.	.	ENSG00000253159	ENST00000252085	T	0.73152	-0.72	4.69	-4.35	0.03656	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.89469	0.6724	H	0.99444	4.57	0.21445	N	0.999686	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.82430	-0.0461	9	0.87932	D	0	.	12.7084	0.57076	0.0:0.4743:0.0:0.5257	.	373;373	O60330-2;O60330	.;PCDGC_HUMAN	E	373	ENSP00000252085:D373E	ENSP00000252085:D373E	D	+	3	2	PCDHGA12	140791629	0.000000	0.05858	0.962000	0.40283	0.885000	0.51271	-0.781000	0.04648	-0.830000	0.04262	0.655000	0.94253	GAC	.	.		0.428	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	NM_003735	
HIST1H3B	8358	hgsc.bcm.edu	37	6	26032226	26032226	+	Silent	SNP	C	C	A			TCGA-QA-A7B7-01A-11D-A32G-10	TCGA-QA-A7B7-10A-01D-A32G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5e551b27-70d1-46fd-9a37-83d2cecac02d	6f59797f-d0a5-43b4-ae29-7f21022909d2	g.chr6:26032226C>A	ENST00000244661.2	-	1	62	c.63G>T	c.(61-63)ctG>ctT	p.L21L		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	21					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						CCTTGGTAGCCAGCTGCTTGC	0.622																																					p.L21L		Atlas-SNP	.											.	HIST1H3B	59	.	0			c.G63T						.						69.0	84.0	79.0					6																	26032226		2165	4219	6384	SO:0001819	synonymous_variant	8358	exon1			GGTAGCCAGCTGC	X00090	CCDS4573.1	6p22.1	2011-01-27	2006-10-11	2003-03-14	ENSG00000124693	ENSG00000274267		"""Histones / Replication-dependent"""	4776	protein-coding gene	gene with protein product		602819	"""H3 histone family, member L"", ""histone 1, H3b"""	H3FL		6647026, 9119399, 12408966	Standard	NM_003537		Approved	H3/l	uc003nfs.1	P68431	OTTHUMG00000014415	ENST00000244661.2:c.63G>T	chr6.hg19:g.26032226C>A		35.0	0.0		52.0	19.0	NM_003537	A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Silent	SNP	ENST00000244661.2	hg19	CCDS4573.1																																																																																			.	.		0.622	HIST1H3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040077.1	NM_003537	
CNR1	1268	hgsc.bcm.edu	37	6	88854612	88854612	+	Missense_Mutation	SNP	T	T	A			TCGA-QA-A7B7-01A-11D-A32G-10	TCGA-QA-A7B7-10A-01D-A32G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5e551b27-70d1-46fd-9a37-83d2cecac02d	6f59797f-d0a5-43b4-ae29-7f21022909d2	g.chr6:88854612T>A	ENST00000537554.1	-	2	3944	c.382A>T	c.(382-384)Acc>Tcc	p.T128S	CNR1_ENST00000549890.1_Missense_Mutation_p.T128S|CNR1_ENST00000468898.1_Missense_Mutation_p.T95S|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000549716.1_Missense_Mutation_p.T67S|CNR1_ENST00000428600.2_Missense_Mutation_p.T128S|CNR1_ENST00000369499.2_Missense_Mutation_p.T128S|CNR1_ENST00000369501.2_Missense_Mutation_p.T128S|CNR1_ENST00000535130.1_Missense_Mutation_p.T128S	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	128					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|positive regulation of acute inflammatory response to antigenic stimulus (GO:0002866)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood pressure (GO:0045777)|positive regulation of fever generation (GO:0031622)|positive regulation of neuron projection development (GO:0010976)|regulation of feeding behavior (GO:0060259)|regulation of insulin secretion (GO:0050796)|regulation of penile erection (GO:0060405)|regulation of synaptic transmission, GABAergic (GO:0032228)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|sensory perception of pain (GO:0019233)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)|drug binding (GO:0008144)			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Dronabinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	ACCGTGAAGGTGCCCAGCGTG	0.607																																					p.T128S		Atlas-SNP	.											CNR1,NS,carcinoma,0,1	CNR1	91	.	0			c.A382T						.						59.0	52.0	54.0					6																	88854612		2203	4300	6503	SO:0001583	missense	1268	exon4			TGAAGGTGCCCAG	AF107262	CCDS5015.1, CCDS5016.1, CCDS5016.2	6q14-q15	2012-08-08			ENSG00000118432	ENSG00000118432		"""GPCR / Class A : Cannabinoid receptors"""	2159	protein-coding gene	gene with protein product		114610		CNR			Standard	NM_016083		Approved	CB1K5, CB-R, CB1, CANN6, CB1A	uc003pmq.4	P21554	OTTHUMG00000015184	ENST00000537554.1:c.382A>T	chr6.hg19:g.88854612T>A	ENSP00000441046:p.Thr128Ser	56.0	0.0		70.0	26.0	NM_001160258	B2R9T4|E1P512|Q13949|Q495Z0|Q4PLI4|Q4VBM6|Q5JVL5|Q5UB37|Q9UNN0	Missense_Mutation	SNP	ENST00000537554.1	hg19	CCDS5015.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.073890	0.76415	.	.	ENSG00000118432	ENST00000369501;ENST00000535130;ENST00000537554;ENST00000369499;ENST00000549890;ENST00000468898;ENST00000428600;ENST00000549716	T;T;T;T;T;T;T;T	0.37235	1.21;1.21;1.21;1.21;1.21;1.21;1.21;1.21	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.47967	0.1474	L	0.58101	1.795	0.80722	D	1	D;P	0.67145	0.996;0.944	D;P	0.73380	0.98;0.554	T	0.46624	-0.9178	10	0.49607	T	0.09	.	16.1022	0.81184	0.0:0.0:0.0:1.0	.	95;128	P21554-3;P21554	.;CNR1_HUMAN	S	128;128;128;128;128;95;128;67	ENSP00000358513:T128S;ENSP00000442689:T128S;ENSP00000441046:T128S;ENSP00000358511:T128S;ENSP00000446819:T128S;ENSP00000420188:T95S;ENSP00000412192:T128S;ENSP00000449549:T67S	ENSP00000358511:T128S	T	-	1	0	CNR1	88911331	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.040000	0.89188	2.205000	0.71048	0.460000	0.39030	ACC	.	.		0.607	CNR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354204.2		
NCOA7	135112	hgsc.bcm.edu	37	6	126202239	126202239	+	Missense_Mutation	SNP	C	C	A			TCGA-QA-A7B7-01A-11D-A32G-10	TCGA-QA-A7B7-10A-01D-A32G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5e551b27-70d1-46fd-9a37-83d2cecac02d	6f59797f-d0a5-43b4-ae29-7f21022909d2	g.chr6:126202239C>A	ENST00000368357.3	+	7	815	c.463C>A	c.(463-465)Ctt>Att	p.L155I	NCOA7_ENST00000229634.9_Missense_Mutation_p.L51I|NCOA7_ENST00000392477.2_Missense_Mutation_p.L155I	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	155					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		TTCTCAGGTCCTTTTTGTGCC	0.458																																					p.L155I		Atlas-SNP	.											.	NCOA7	92	.	0			c.C463A						.						152.0	110.0	124.0					6																	126202239		2203	4300	6503	SO:0001583	missense	135112	exon7			CAGGTCCTTTTTG	AJ420542	CCDS5132.1, CCDS56448.1	6q22.33	2013-03-14			ENSG00000111912	ENSG00000111912			21081	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 4"""	609752				11971969	Standard	NM_001199619		Approved	ERAP140, dJ187J11.3, TLDC4	uc003qai.3	Q8NI08	OTTHUMG00000015513	ENST00000368357.3:c.463C>A	chr6.hg19:g.126202239C>A	ENSP00000357341:p.Leu155Ile	198.0	0.0		230.0	95.0	NM_001199619	B2RNS2|B7Z2C4|B9EH71|G8JL91|Q3LID6|Q4G0V1|Q5TF95|Q6IPQ4|Q6NE83|Q86T89|Q8N1W4	Missense_Mutation	SNP	ENST00000368357.3	hg19	CCDS5132.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.404412	0.83230	.	.	ENSG00000111912	ENST00000368357;ENST00000392477;ENST00000417494;ENST00000229634	T;T;T;T	0.56103	0.48;0.48;0.48;0.48	5.72	5.72	0.89469	Peptidoglycan-binding Lysin subgroup (1);Peptidoglycan-binding lysin domain (1);	0.066231	0.64402	N	0.000014	T	0.54951	0.1890	L	0.39514	1.22	0.41132	D	0.985894	D;D;B;D	0.89917	1.0;0.998;0.197;1.0	D;D;B;D	0.91635	0.998;0.996;0.062;0.999	T	0.54702	-0.8254	10	0.44086	T	0.13	-8.8356	13.184	0.59670	0.0:0.9275:0.0:0.0725	.	155;155;155;155	B3KXK4;Q8NI08-2;Q8NI08-4;Q8NI08	.;.;.;NCOA7_HUMAN	I	155;155;155;51	ENSP00000357341:L155I;ENSP00000376269:L155I;ENSP00000406363:L155I;ENSP00000229634:L51I	ENSP00000229634:L51I	L	+	1	0	NCOA7	126243932	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.550000	0.45811	2.714000	0.92807	0.644000	0.83932	CTT	.	.		0.458	NCOA7-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042083.4	XM_059748	
GRM1	2911	hgsc.bcm.edu	37	6	146708066	146708066	+	Missense_Mutation	SNP	C	C	A	rs201399008		TCGA-QA-A7B7-01A-11D-A32G-10	TCGA-QA-A7B7-10A-01D-A32G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5e551b27-70d1-46fd-9a37-83d2cecac02d	6f59797f-d0a5-43b4-ae29-7f21022909d2	g.chr6:146708066C>A	ENST00000282753.1	+	6	1878	c.1643C>A	c.(1642-1644)aCg>aAg	p.T548K	GRM1_ENST00000392299.2_Missense_Mutation_p.T548K|GRM1_ENST00000361719.2_Missense_Mutation_p.T548K|GRM1_ENST00000355289.4_Missense_Mutation_p.T548K|GRM1_ENST00000492807.2_Missense_Mutation_p.T548K|GRM1_ENST00000507907.1_Missense_Mutation_p.T548K			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	548					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		TGGATTTGCACGGCCTGCAAA	0.418																																					p.T548K		Atlas-SNP	.											GRM1_ENST00000392299,colon,carcinoma,0,6	GRM1	419	.	0			c.C1643A						.						132.0	125.0	128.0					6																	146708066		2203	4300	6503	SO:0001583	missense	2911	exon7			TTTGCACGGCCTG	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.1643C>A	chr6.hg19:g.146708066C>A	ENSP00000282753:p.Thr548Lys	84.0	0.0		120.0	49.0	NM_000838	B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	hg19	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.545701	0.86022	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.89810	-2.57;-2.57;-2.57;-2.57;-2.57;-2.57	5.45	5.45	0.79879	GPCR, family 3, conserved site (1);GPCR, family 3, nine cysteines domain (1);	0.043920	0.85682	D	0.000000	D	0.92110	0.7499	L	0.52126	1.63	0.80722	D	1	D;D;D	0.89917	0.998;1.0;0.998	D;D;D	0.91635	0.977;0.999;0.971	D	0.92435	0.5957	10	0.62326	D	0.03	.	18.8729	0.92324	0.0:1.0:0.0:0.0	.	548;548;548	F8W805;Q13255;Q13255-2	.;GRM1_HUMAN;.	K	548	ENSP00000354896:T548K;ENSP00000376119:T548K;ENSP00000424095:T548K;ENSP00000282753:T548K;ENSP00000347437:T548K;ENSP00000425599:T548K	ENSP00000282753:T548K	T	+	2	0	GRM1	146749759	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.223000	0.78033	2.533000	0.85409	0.585000	0.79938	ACG	.	.		0.418	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838	
THBS2	7058	hgsc.bcm.edu	37	6	169639701	169639701	+	Nonsense_Mutation	SNP	G	G	T			TCGA-QA-A7B7-01A-11D-A32G-10	TCGA-QA-A7B7-10A-01D-A32G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5e551b27-70d1-46fd-9a37-83d2cecac02d	6f59797f-d0a5-43b4-ae29-7f21022909d2	g.chr6:169639701G>T	ENST00000366787.3	-	8	1371	c.1122C>A	c.(1120-1122)tgC>tgA	p.C374*	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	374	VWFC. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CACAGTGGAGGCAGGAAGGGC	0.478																																					p.C374X	Esophageal Squamous(91;219 1934 18562 44706)	Atlas-SNP	.											.	THBS2	230	.	0			c.C1122A						.						60.0	43.0	49.0					6																	169639701		2201	4295	6496	SO:0001587	stop_gained	7058	exon8			GTGGAGGCAGGAA		CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.1122C>A	chr6.hg19:g.169639701G>T	ENSP00000355751:p.Cys374*	46.0	0.0		31.0	14.0	NM_003247	A6H8N1|A7E232|Q5RI52	Nonsense_Mutation	SNP	ENST00000366787.3	hg19	CCDS34574.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.056218	0.76074	.	.	ENSG00000186340	ENST00000366787	.	.	.	5.34	1.49	0.22878	.	0.000000	0.44902	U	0.000408	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-48.3649	8.5014	0.33161	0.311:0.0:0.689:0.0	.	.	.	.	X	374	.	ENSP00000355751:C374X	C	-	3	2	THBS2	169381626	0.998000	0.40836	0.957000	0.39632	0.021000	0.10359	1.496000	0.35638	0.611000	0.30052	0.655000	0.94253	TGC	.	.		0.478	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247	
IQCE	23288	hgsc.bcm.edu	37	7	2649728	2649728	+	Missense_Mutation	SNP	G	G	A			TCGA-QA-A7B7-01A-11D-A32G-10	TCGA-QA-A7B7-10A-01D-A32G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5e551b27-70d1-46fd-9a37-83d2cecac02d	6f59797f-d0a5-43b4-ae29-7f21022909d2	g.chr7:2649728G>A	ENST00000402050.2	+	22	2204	c.2020G>A	c.(2020-2022)Gtc>Atc	p.V674I	IQCE_ENST00000325979.7_Missense_Mutation_p.V609I|IQCE_ENST00000404984.1_Missense_Mutation_p.V623I|IQCE_ENST00000438376.2_Missense_Mutation_p.V658I	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN	IQ motif containing E	674						mitochondrion (GO:0005739)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		TGGGGATGACGTCAACTCCGA	0.587																																					p.V674I		Atlas-SNP	.											.	IQCE	66	.	0			c.G2020A						.						96.0	99.0	98.0					7																	2649728		2104	4225	6329	SO:0001583	missense	23288	exon22			GATGACGTCAACT	AL136792	CCDS43542.1, CCDS47527.1, CCDS47527.2, CCDS75559.1, CCDS75560.1	7p22.3	2006-04-12			ENSG00000106012	ENSG00000106012			29171	protein-coding gene	gene with protein product						10470851	Standard	XR_242067		Approved	KIAA1023	uc003smo.4	Q6IPM2	OTTHUMG00000152047	ENST00000402050.2:c.2020G>A	chr7.hg19:g.2649728G>A	ENSP00000385597:p.Val674Ile	65.0	0.0		94.0	37.0	NM_152558	Q4G0P7|Q6P7T4|Q9H0H7|Q9UPX7	Missense_Mutation	SNP	ENST00000402050.2	hg19	CCDS43542.1	.	.	.	.	.	.	.	.	.	.	G	12.57	1.976895	0.34848	.	.	ENSG00000106012	ENST00000402050;ENST00000404984;ENST00000438376;ENST00000325979	T;T;T;T	0.13657	2.58;2.57;2.58;2.59	4.9	-1.0	0.10196	.	0.760191	0.11028	N	0.607556	T	0.08223	0.0205	N	0.24115	0.695	0.09310	N	1	B;B	0.17465	0.013;0.022	B;B	0.08055	0.001;0.003	T	0.37407	-0.9707	10	0.27785	T	0.31	.	8.324	0.32145	0.5666:0.0:0.4334:0.0	.	674;658	Q6IPM2;Q6IPM2-4	IQCE_HUMAN;.	I	674;623;658;609	ENSP00000385597:V674I;ENSP00000385945:V623I;ENSP00000396178:V658I;ENSP00000313772:V609I	ENSP00000313772:V609I	V	+	1	0	IQCE	2616254	0.000000	0.05858	0.000000	0.03702	0.224000	0.24922	-0.724000	0.04947	-0.604000	0.05760	0.561000	0.74099	GTC	.	.		0.587	IQCE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325063.2	NM_152558	
CCDC136	64753	hgsc.bcm.edu	37	7	128449530	128449530	+	Silent	SNP	A	A	G			TCGA-QA-A7B7-01A-11D-A32G-10	TCGA-QA-A7B7-10A-01D-A32G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5e551b27-70d1-46fd-9a37-83d2cecac02d	6f59797f-d0a5-43b4-ae29-7f21022909d2	g.chr7:128449530A>G	ENST00000297788.4	+	11	1999	c.1632A>G	c.(1630-1632)acA>acG	p.T544T	CCDC136_ENST00000464832.1_Intron|CCDC136_ENST00000487361.1_Intron|CCDC136_ENST00000378685.4_Intron	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	544						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						CCAGACTGACAGAATTGCAGG	0.567																																					p.T544T		Atlas-SNP	.											.	CCDC136	170	.	0			c.A1632G						.						21.0	23.0	22.0					7																	128449530		1983	4055	6038	SO:0001819	synonymous_variant	64753	exon11			ACTGACAGAATTG		CCDS47704.1, CCDS56510.1	7q33	2007-08-01			ENSG00000128596	ENSG00000128596			22225	protein-coding gene	gene with protein product		611902				15112360	Standard	NM_022742		Approved	KIAA1793, NAG6, DKFZP434G156	uc003vnv.2	Q96JN2	OTTHUMG00000158310	ENST00000297788.4:c.1632A>G	chr7.hg19:g.128449530A>G		158.0	1.0		120.0	99.0	NM_022742	A4D1K1|A7MCY7|A8MYA7|Q6ZVK7|Q9H8M3|Q9UFE1	Silent	SNP	ENST00000297788.4	hg19	CCDS47704.1	.	.	.	.	.	.	.	.	.	.	A	10.39	1.336417	0.24253	.	.	ENSG00000128596	ENST00000494552	.	.	.	6.07	3.75	0.43078	.	.	.	.	.	T	0.55862	0.1947	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51826	-0.8656	4	.	.	.	-4.6257	6.8338	0.23925	0.826:0.0:0.174:0.0	.	.	.	.	R	421	.	.	Q	+	2	0	CCDC136	128236766	0.998000	0.40836	1.000000	0.80357	0.987000	0.75469	0.410000	0.21098	1.128000	0.42052	0.533000	0.62120	CAG	.	.		0.567	CCDC136-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350641.1	NM_022742	
ESYT2	57488	hgsc.bcm.edu	37	7	158540904	158540904	+	Missense_Mutation	SNP	C	C	T			TCGA-QA-A7B7-01A-11D-A32G-10	TCGA-QA-A7B7-10A-01D-A32G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5e551b27-70d1-46fd-9a37-83d2cecac02d	6f59797f-d0a5-43b4-ae29-7f21022909d2	g.chr7:158540904C>T	ENST00000251527.5	-	15	1771	c.1706G>A	c.(1705-1707)cGc>cAc	p.R569H		NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	597	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				endocytosis (GO:0006897)|lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)|organelle membrane contact site (GO:0044232)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|identical protein binding (GO:0042802)|phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						AAGGTCCTGGCGCTTGGGATT	0.338																																					p.R569H		Atlas-SNP	.											.	ESYT2	70	.	0			c.G1706A						.						120.0	124.0	123.0					7																	158540904		2203	4300	6503	SO:0001583	missense	57488	exon15			TCCTGGCGCTTGG	AB033054	CCDS34791.1	7q36.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000117868	ENSG00000117868		"""Synaptotagmins"""	22211	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member B"""	FAM62B		17672888	Standard	NM_020728		Approved	KIAA1228, CHR2SYT	uc003wob.1	A0FGR8	OTTHUMG00000151436	ENST00000251527.5:c.1706G>A	chr7.hg19:g.158540904C>T	ENSP00000251527:p.Arg569His	103.0	0.0		62.0	50.0	NM_020728	A4D229|Q69YJ2|Q6UKI4|Q6ZTU0|Q6ZVU1|Q9BQS0|Q9NW47|Q9ULJ2	Missense_Mutation	SNP	ENST00000251527.5	hg19	CCDS34791.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.949205	0.73787	.	.	ENSG00000117868	ENST00000251527;ENST00000421679;ENST00000275418;ENST00000429474	T;T	0.69040	-0.37;-0.37	4.98	4.98	0.66077	.	0.117564	0.52532	D	0.000062	T	0.75975	0.3923	L	0.44542	1.39	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.70016	0.967;0.939	T	0.76647	-0.2882	10	0.48119	T	0.1	-21.6892	17.2579	0.87062	0.0:1.0:0.0:0.0	.	618;569	A0FGR8-6;A0FGR8-2	.;.	H	569;618;560;393	ENSP00000251527:R569H;ENSP00000275418:R560H	ENSP00000251527:R569H	R	-	2	0	ESYT2	158233665	0.859000	0.29813	1.000000	0.80357	0.998000	0.95712	1.507000	0.35758	2.308000	0.77769	0.563000	0.77884	CGC	.	.		0.338	ESYT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322647.1	NM_020728	
HR	55806	hgsc.bcm.edu	37	8	21986325	21986325	+	Missense_Mutation	SNP	C	C	G			TCGA-QA-A7B7-01A-11D-A32G-10	TCGA-QA-A7B7-10A-01D-A32G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5e551b27-70d1-46fd-9a37-83d2cecac02d	6f59797f-d0a5-43b4-ae29-7f21022909d2	g.chr8:21986325C>G	ENST00000381418.4	-	2	1839	c.359G>C	c.(358-360)gGc>gCc	p.G120A	HR_ENST00000518377.1_5'Flank|HR_ENST00000312841.8_Missense_Mutation_p.G120A	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	120					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		CATCAGGGGGCCACAGCGAGG	0.627																																					p.G120A		Atlas-SNP	.											.	HR	71	.	0			c.G359C						.						35.0	32.0	33.0					8																	21986325		2203	4299	6502	SO:0001583	missense	55806	exon2			AGGGGGCCACAGC	AF039196	CCDS6022.1, CCDS6023.1	8p12	2012-12-07	2012-12-07		ENSG00000168453	ENSG00000168453			5172	protein-coding gene	gene with protein product		602302	"""hairless (mouse) homolog"", ""hairless homolog (mouse)"""	ALUNC		10051399, 9463324	Standard	NM_018411		Approved	AU	uc003xas.3	O43593	OTTHUMG00000097089	ENST00000381418.4:c.359G>C	chr8.hg19:g.21986325C>G	ENSP00000370826:p.Gly120Ala	60.0	0.0		52.0	41.0	NM_018411	Q6GS30|Q96H33|Q9NPE1	Missense_Mutation	SNP	ENST00000381418.4	hg19	CCDS6022.1	.	.	.	.	.	.	.	.	.	.	C	13.48	2.248812	0.39797	.	.	ENSG00000168453	ENST00000381418;ENST00000312841	T;T	0.71698	-0.58;-0.59	4.82	2.87	0.33458	.	0.819977	0.10525	N	0.664520	T	0.55226	0.1907	L	0.27053	0.805	0.09310	N	1	P;P;P	0.51351	0.944;0.901;0.841	B;B;B	0.41271	0.352;0.269;0.138	T	0.49418	-0.8942	10	0.72032	D	0.01	-4.6596	5.959	0.19289	0.0:0.7656:0.0:0.2344	.	120;120;120	A6NCE3;O43593-2;O43593	.;.;HAIR_HUMAN	A	120	ENSP00000370826:G120A;ENSP00000326765:G120A	ENSP00000326765:G120A	G	-	2	0	HR	22042270	0.599000	0.26891	0.722000	0.30670	0.693000	0.40251	1.265000	0.33027	1.267000	0.44247	0.561000	0.74099	GGC	.	.		0.627	HR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214213.1		
PNMA2	10687	hgsc.bcm.edu	37	8	26365742	26365742	+	Missense_Mutation	SNP	T	T	A			TCGA-QA-A7B7-01A-11D-A32G-10	TCGA-QA-A7B7-10A-01D-A32G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5e551b27-70d1-46fd-9a37-83d2cecac02d	6f59797f-d0a5-43b4-ae29-7f21022909d2	g.chr8:26365742T>A	ENST00000522362.2	-	3	1424	c.530A>T	c.(529-531)gAg>gTg	p.E177V	PNMA2_ENST00000522764.1_5'Flank	NM_007257.5	NP_009188.1	Q9UL42	PNMA2_HUMAN	paraneoplastic Ma antigen 2	177					positive regulation of apoptotic process (GO:0043065)	nucleus (GO:0005634)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)		ggactcttcctctggggctgg	0.552																																					p.E177V		Atlas-SNP	.											.	PNMA2	33	.	0			c.A530T						.						66.0	66.0	66.0					8																	26365742		2203	4300	6503	SO:0001583	missense	10687	exon3			TCTTCCTCTGGGG		CCDS34868.1	8p21.1	2012-02-09	2012-02-09		ENSG00000240694	ENSG00000240694		"""Paraneoplastic Ma antigens"""	9159	protein-coding gene	gene with protein product		603970	"""paraneoplastic antigen MA2"""			10362822	Standard	NM_007257		Approved	MA2, RGAG2	uc003xez.2	Q9UL42	OTTHUMG00000163816	ENST00000522362.2:c.530A>T	chr8.hg19:g.26365742T>A	ENSP00000429344:p.Glu177Val	69.0	0.0		43.0	36.0	NM_007257	B3KNY9|O94959|O95145|Q49A18|Q9UL43	Missense_Mutation	SNP	ENST00000522362.2	hg19	CCDS34868.1	.	.	.	.	.	.	.	.	.	.	T	15.34	2.804993	0.50315	.	.	ENSG00000240694	ENST00000522362	T	0.12774	2.65	4.22	3.06	0.35304	.	.	.	.	.	T	0.14013	0.0339	L	0.43152	1.355	0.32544	N	0.53326	P	0.52316	0.952	P	0.45998	0.5	T	0.17501	-1.0367	9	0.62326	D	0.03	-11.9143	6.4336	0.21811	0.0:0.1095:0.0:0.8905	.	177	Q9UL42	PNMA2_HUMAN	V	177	ENSP00000429344:E177V	ENSP00000429344:E177V	E	-	2	0	PNMA2	26421659	0.994000	0.37717	0.988000	0.46212	0.556000	0.35491	1.677000	0.37576	0.954000	0.37851	0.533000	0.62120	GAG	.	.		0.552	PNMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375709.2	NM_007257	
CSMD3	114788	hgsc.bcm.edu	37	8	113569137	113569137	+	Silent	SNP	T	T	G			TCGA-QA-A7B7-01A-11D-A32G-10	TCGA-QA-A7B7-10A-01D-A32G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5e551b27-70d1-46fd-9a37-83d2cecac02d	6f59797f-d0a5-43b4-ae29-7f21022909d2	g.chr8:113569137T>G	ENST00000297405.5	-	25	4333	c.4089A>C	c.(4087-4089)ggA>ggC	p.G1363G	CSMD3_ENST00000352409.3_Silent_p.G1363G|CSMD3_ENST00000343508.3_Silent_p.G1323G|CSMD3_ENST00000455883.2_Silent_p.G1259G	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1363	Sushi 7. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGATCTTGTATCCAAATTGTG	0.413										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																											p.G1363G		Atlas-SNP	.											.	CSMD3	2325	.	0			c.A4089C						.						94.0	85.0	88.0					8																	113569137		2203	4299	6502	SO:0001819	synonymous_variant	114788	exon25			CTTGTATCCAAAT	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.4089A>C	chr8.hg19:g.113569137T>G		66.0	0.0		20.0	10.0	NM_198123	Q96PZ3	Silent	SNP	ENST00000297405.5	hg19	CCDS6315.1																																																																																			.	.		0.413	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	
SETX	23064	hgsc.bcm.edu	37	9	135176017	135176017	+	Splice_Site	SNP	T	T	C			TCGA-QA-A7B7-01A-11D-A32G-10	TCGA-QA-A7B7-10A-01D-A32G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5e551b27-70d1-46fd-9a37-83d2cecac02d	6f59797f-d0a5-43b4-ae29-7f21022909d2	g.chr9:135176017T>C	ENST00000224140.5	-	12	5730	c.5548A>G	c.(5548-5550)Atg>Gtg	p.M1850V	SETX_ENST00000393220.1_Splice_Site_p.M1850V|SETX_ENST00000372169.2_Splice_Site_p.M1850V	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	1850					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		ATTTACTTACTGACTGACGTG	0.333																																					p.M1850V		Atlas-SNP	.											.	SETX	234	.	0			c.A5548G						.						197.0	184.0	188.0					9																	135176017		2203	4300	6503	SO:0001630	splice_region_variant	23064	exon12			ACTTACTGACTGA	AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.5548+1A>G	chr9.hg19:g.135176017T>C		159.0	0.0		176.0	66.0	NM_015046	A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	hg19	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	T	12.69	2.014925	0.35511	.	.	ENSG00000107290	ENST00000224140;ENST00000436441;ENST00000372169;ENST00000393220	D;D;D;D	0.89617	-1.98;-2.54;-2.06;-1.67	5.02	3.88	0.44766	.	0.847483	0.10530	N	0.663948	T	0.82181	0.4981	L	0.29908	0.895	0.34310	D	0.685386	B;B;B	0.22003	0.02;0.037;0.063	B;B;B	0.21917	0.023;0.017;0.037	T	0.76228	-0.3036	9	.	.	.	.	9.8167	0.40858	0.0:0.0823:0.0:0.9177	.	1850;1850;1850	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	V	1850;92;1850;1850	ENSP00000224140:M1850V;ENSP00000409143:M92V;ENSP00000361242:M1850V;ENSP00000376913:M1850V	.	M	-	1	0	SETX	134165838	0.999000	0.42202	0.997000	0.53966	0.940000	0.58332	2.807000	0.47955	0.875000	0.35847	0.533000	0.62120	ATG	.	.		0.333	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046	Missense_Mutation
COL5A1	1289	hgsc.bcm.edu	37	9	137715262	137715262	+	Splice_Site	SNP	G	G	A			TCGA-QA-A7B7-01A-11D-A32G-10	TCGA-QA-A7B7-10A-01D-A32G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5e551b27-70d1-46fd-9a37-83d2cecac02d	6f59797f-d0a5-43b4-ae29-7f21022909d2	g.chr9:137715262G>A	ENST00000371817.3	+	61	5059	c.4645G>A	c.(4645-4647)Ggt>Agt	p.G1549S		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1549	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TTCTCCCCAGGGTCCAACTGG	0.602																																					p.G1549S		Atlas-SNP	.											.	COL5A1	323	.	0			c.G4645A						.						113.0	131.0	125.0					9																	137715262		2203	4300	6503	SO:0001630	splice_region_variant	1289	exon61			CCCCAGGGTCCAA	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.4645-1G>A	chr9.hg19:g.137715262G>A		114.0	0.0		140.0	50.0	NM_000093	Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	hg19	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.499060	0.85069	.	.	ENSG00000130635	ENST00000371817;ENST00000355306	D	0.99329	-5.75	5.14	5.14	0.70334	.	0.070767	0.56097	N	0.000030	D	0.99658	0.9873	H	0.97103	3.94	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97473	1.0042	9	.	.	.	.	18.5897	0.91206	0.0:0.0:1.0:0.0	.	1549	P20908	CO5A1_HUMAN	S	1549;86	ENSP00000360882:G1549S	.	G	+	1	0	COL5A1	136855083	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	9.770000	0.98971	2.389000	0.81357	0.643000	0.83706	GGT	.	.		0.602	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093	Missense_Mutation
CACNA1B	774	hgsc.bcm.edu	37	9	140865851	140865851	+	Silent	SNP	C	C	T	rs201843778		TCGA-QA-A7B7-01A-11D-A32G-10	TCGA-QA-A7B7-10A-01D-A32G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5e551b27-70d1-46fd-9a37-83d2cecac02d	6f59797f-d0a5-43b4-ae29-7f21022909d2	g.chr9:140865851C>T	ENST00000371372.1	+	11	1495	c.1350C>T	c.(1348-1350)cgC>cgT	p.R450R	CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000277551.2_Silent_p.R450R|CACNA1B_ENST00000371363.1_Silent_p.R450R|CACNA1B_ENST00000371355.4_Silent_p.R451R|CACNA1B_ENST00000371357.1_Silent_p.R451R	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	450					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	CCTTCGCCCGCGCCAGCCTCA	0.607																																					p.R450R		Atlas-SNP	.											.	CACNA1B	266	.	0			c.C1350T						.	C		2,3922		0,2,1960	36.0	41.0	39.0		1350	-10.5	0.0	9		39	0,8266		0,0,4133	no	coding-synonymous	CACNA1B	NM_000718.3		0,2,6093	TT,TC,CC		0.0,0.051,0.0164		450/2340	140865851	2,12188	1962	4133	6095	SO:0001819	synonymous_variant	774	exon11			CGCCCGCGCCAGC	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.1350C>T	chr9.hg19:g.140865851C>T		66.0	0.0		87.0	37.0	NM_001243812	B1AQK5	Silent	SNP	ENST00000371372.1	hg19	CCDS59522.1																																																																																			.	.		0.607	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718	
CUL2	8453	hgsc.bcm.edu	37	10	35333758	35333758	+	Missense_Mutation	SNP	T	T	C			TCGA-QA-A7B7-01A-11D-A32G-10	TCGA-QA-A7B7-10A-01D-A32G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5e551b27-70d1-46fd-9a37-83d2cecac02d	6f59797f-d0a5-43b4-ae29-7f21022909d2	g.chr10:35333758T>C	ENST00000374748.1	-	8	858	c.545A>G	c.(544-546)cAt>cGt	p.H182R	CUL2_ENST00000537177.1_Missense_Mutation_p.H201R|CUL2_ENST00000374751.3_Missense_Mutation_p.H182R|CUL2_ENST00000374749.3_Missense_Mutation_p.H182R|CUL2_ENST00000602371.1_Missense_Mutation_p.H125R|CUL2_ENST00000374742.1_Missense_Mutation_p.H182R|CUL2_ENST00000374746.1_Missense_Mutation_p.H182R			Q13617	CUL2_HUMAN	cullin 2	182					cell cycle arrest (GO:0007050)|cellular response to hypoxia (GO:0071456)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul2-RING ubiquitin ligase complex (GO:0031462)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|VCB complex (GO:0030891)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						AATAACCCCATGGATTACTTT	0.323																																					p.H201R		Atlas-SNP	.											.	CUL2	63	.	0			c.A602G						.						84.0	84.0	84.0					10																	35333758		2203	4297	6500	SO:0001583	missense	8453	exon7			ACCCCATGGATTA	U83410	CCDS7179.1, CCDS73086.1	10p11.2	2011-05-24			ENSG00000108094	ENSG00000108094			2552	protein-coding gene	gene with protein product		603135				8681378	Standard	NM_003591		Approved		uc021ppa.1	Q13617	OTTHUMG00000017950	ENST00000374748.1:c.545A>G	chr10.hg19:g.35333758T>C	ENSP00000363880:p.His182Arg	109.0	0.0		199.0	134.0	NM_001198778	B3KT95|B7Z6K8|D3DRY6|G3V1S2|O00200|Q5T2B6|Q9UNF9	Missense_Mutation	SNP	ENST00000374748.1	hg19	CCDS7179.1	.	.	.	.	.	.	.	.	.	.	T	7.395	0.631579	0.14322	.	.	ENSG00000108094	ENST00000374751;ENST00000374748;ENST00000374746;ENST00000374749;ENST00000374754;ENST00000374742;ENST00000537177;ENST00000421317	T;T;T;T;T;T;T	0.26067	1.76;1.76;1.76;1.76;1.76;1.76;1.76	5.89	5.89	0.94794	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.13798	0.0334	N	0.08118	0	0.80722	D	1	B;B;B	0.21071	0.051;0.023;0.028	B;B;B	0.18871	0.023;0.014;0.023	T	0.11891	-1.0569	10	0.08381	T	0.77	-24.9147	16.3123	0.82883	0.0:0.0:0.0:1.0	.	182;201;182	Q5T2B5;G3V1S2;Q13617	.;.;CUL2_HUMAN	R	182;182;182;182;125;182;201;182	ENSP00000363883:H182R;ENSP00000363880:H182R;ENSP00000363878:H182R;ENSP00000363881:H182R;ENSP00000363874:H182R;ENSP00000444856:H201R;ENSP00000414095:H182R	ENSP00000363874:H182R	H	-	2	0	CUL2	35373764	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	8.015000	0.88690	2.254000	0.74563	0.459000	0.35465	CAT	.	.		0.323	CUL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047538.1	NM_003591	
BTAF1	9044	hgsc.bcm.edu	37	10	93742473	93742473	+	Missense_Mutation	SNP	G	G	T			TCGA-QA-A7B7-01A-11D-A32G-10	TCGA-QA-A7B7-10A-01D-A32G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5e551b27-70d1-46fd-9a37-83d2cecac02d	6f59797f-d0a5-43b4-ae29-7f21022909d2	g.chr10:93742473G>T	ENST00000265990.6	+	18	2486	c.2178G>T	c.(2176-2178)agG>agT	p.R726S	BTAF1_ENST00000471217.1_3'UTR	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	726					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				CTTTACAGAGGATTAGTGTAG	0.378																																					p.R726S		Atlas-SNP	.											.	BTAF1	148	.	0			c.G2178T						.						123.0	117.0	119.0					10																	93742473		2203	4300	6503	SO:0001583	missense	9044	exon18			ACAGAGGATTAGT	AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"""Mot1 homolog (S. cerevisiae)"""	605191	"""BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"""			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.2178G>T	chr10.hg19:g.93742473G>T	ENSP00000265990:p.Arg726Ser	85.0	0.0		67.0	48.0	NM_003972	B4E0W6|O43578	Missense_Mutation	SNP	ENST00000265990.6	hg19	CCDS7419.1	.	.	.	.	.	.	.	.	.	.	G	16.45	3.127279	0.56721	.	.	ENSG00000095564	ENST00000265990	T	0.74106	-0.81	5.81	-1.07	0.09968	Domain of unknown function DUF3535 (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.83147	0.5191	M	0.81802	2.56	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.79784	0.993;0.993	T	0.82147	-0.0601	10	0.87932	D	0	-10.4349	10.4584	0.44563	0.6396:0.0:0.3604:0.0	.	726;726	Q2M1V9;O14981	.;BTAF1_HUMAN	S	726	ENSP00000265990:R726S	ENSP00000265990:R726S	R	+	3	2	BTAF1	93732453	0.995000	0.38212	0.994000	0.49952	0.940000	0.58332	0.365000	0.20348	-0.208000	0.10171	0.462000	0.41574	AGG	.	.		0.378	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4	NM_003972	
PNLIP	5406	hgsc.bcm.edu	37	10	118314762	118314762	+	Missense_Mutation	SNP	T	T	C			TCGA-QA-A7B7-01A-11D-A32G-10	TCGA-QA-A7B7-10A-01D-A32G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5e551b27-70d1-46fd-9a37-83d2cecac02d	6f59797f-d0a5-43b4-ae29-7f21022909d2	g.chr10:118314762T>C	ENST00000369221.2	+	7	672	c.644T>C	c.(643-645)tTt>tCt	p.F215S		NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	215					intestinal cholesterol absorption (GO:0030299)|lipid catabolic process (GO:0016042)|lipid digestion (GO:0044241)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|triglyceride lipase activity (GO:0004806)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Glycerol Phenylbutyrate(DB08909)|Orlistat(DB01083)	GATGCCAAATTTGTGGATGTA	0.473																																					p.F215S		Atlas-SNP	.											.	PNLIP	166	.	0			c.T644C						.						82.0	74.0	77.0					10																	118314762		2203	4300	6503	SO:0001583	missense	5406	exon7			CCAAATTTGTGGA	BC014309	CCDS7594.1	10q25.3	2012-07-31			ENSG00000175535	ENSG00000175535	3.1.1.3		9155	protein-coding gene	gene with protein product		246600				1783385	Standard	NM_000936		Approved	PL	uc001lcm.3	P16233	OTTHUMG00000019103	ENST00000369221.2:c.644T>C	chr10.hg19:g.118314762T>C	ENSP00000358223:p.Phe215Ser	120.0	0.0		69.0	48.0	NM_000936	Q5VSQ2	Missense_Mutation	SNP	ENST00000369221.2	hg19	CCDS7594.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.254911	0.80135	.	.	ENSG00000175535	ENST00000369221	D	0.97016	-4.21	6.07	6.07	0.98685	Lipase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98915	0.9632	H	0.97983	4.12	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99466	1.0944	10	0.87932	D	0	.	15.6176	0.76780	0.0:0.0:0.0:1.0	.	215	P16233	LIPP_HUMAN	S	215	ENSP00000358223:F215S	ENSP00000358223:F215S	F	+	2	0	PNLIP	118304752	1.000000	0.71417	0.996000	0.52242	0.607000	0.37147	6.590000	0.74085	2.330000	0.79161	0.477000	0.44152	TTT	.	.		0.473	PNLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050524.1	NM_000936	
DNHD1	144132	hgsc.bcm.edu	37	11	6565467	6565467	+	Missense_Mutation	SNP	C	C	A			TCGA-QA-A7B7-01A-11D-A32G-10	TCGA-QA-A7B7-10A-01D-A32G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5e551b27-70d1-46fd-9a37-83d2cecac02d	6f59797f-d0a5-43b4-ae29-7f21022909d2	g.chr11:6565467C>A	ENST00000527990.2	+	17	3745	c.3745C>A	c.(3745-3747)Cat>Aat	p.H1249N	DNHD1_ENST00000254579.6_Missense_Mutation_p.H1249N			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	1249					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GGCCATCATGCATGGCCTGGG	0.542																																					p.H1249N		Atlas-SNP	.											.	DNHD1	198	.	0			c.C3745A						.						68.0	61.0	63.0					11																	6565467		692	1591	2283	SO:0001583	missense	144132	exon19			ATCATGCATGGCC	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.3745C>A	chr11.hg19:g.6565467C>A	ENSP00000436180:p.His1249Asn	64.0	0.0		62.0	23.0	NM_144666	Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	hg19	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	C	9.931	1.214938	0.22373	.	.	ENSG00000179532	ENST00000254579;ENST00000527990	T;T	0.58797	0.31;0.31	5.09	3.17	0.36434	Dynein heavy chain, domain-2 (1);	.	.	.	.	T	0.34454	0.0898	N	0.14661	0.345	0.22292	N	0.999229	B	0.18166	0.026	B	0.18871	0.023	T	0.22208	-1.0223	9	0.13470	T	0.59	.	6.2383	0.20776	0.1845:0.7168:0.0:0.0987	.	1249	Q96M86	DNHD1_HUMAN	N	1249	ENSP00000254579:H1249N;ENSP00000436180:H1249N	ENSP00000254579:H1249N	H	+	1	0	DNHD1	6522043	0.880000	0.30214	0.916000	0.36221	0.319000	0.28217	0.780000	0.26760	0.767000	0.33267	0.561000	0.74099	CAT	.	.		0.542	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666	
INTS5	80789	hgsc.bcm.edu	37	11	62415200	62415200	+	Silent	SNP	A	A	T			TCGA-QA-A7B7-01A-11D-A32G-10	TCGA-QA-A7B7-10A-01D-A32G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5e551b27-70d1-46fd-9a37-83d2cecac02d	6f59797f-d0a5-43b4-ae29-7f21022909d2	g.chr11:62415200A>T	ENST00000330574.2	-	2	2404	c.2352T>A	c.(2350-2352)gtT>gtA	p.V784V	GANAB_ENST00000534779.1_5'Flank|GANAB_ENST00000356638.3_5'Flank|GANAB_ENST00000540933.1_5'Flank|GANAB_ENST00000346178.4_5'Flank	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	784					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						TGCAGCAGTGAACCAGGAGGC	0.582																																					p.V784V		Atlas-SNP	.											.	INTS5	81	.	0			c.T2352A						.						54.0	61.0	59.0					11																	62415200		2202	4299	6501	SO:0001819	synonymous_variant	80789	exon2			GCAGTGAACCAGG	AK123587	CCDS8027.1	11q12.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000185085	ENSG00000185085			29352	protein-coding gene	gene with protein product		611349	"""KIAA1698"""	KIAA1698		16239144	Standard	NM_030628		Approved	INT5	uc001nud.3	Q6P9B9	OTTHUMG00000167605	ENST00000330574.2:c.2352T>A	chr11.hg19:g.62415200A>T		91.0	0.0		135.0	59.0	NM_030628	Q8N6W5|Q9C0G5	Silent	SNP	ENST00000330574.2	hg19	CCDS8027.1																																																																																			.	.		0.582	INTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395327.1	NM_030628	
PELI3	246330	hgsc.bcm.edu	37	11	66243202	66243202	+	Missense_Mutation	SNP	C	C	A			TCGA-QA-A7B7-01A-11D-A32G-10	TCGA-QA-A7B7-10A-01D-A32G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5e551b27-70d1-46fd-9a37-83d2cecac02d	6f59797f-d0a5-43b4-ae29-7f21022909d2	g.chr11:66243202C>A	ENST00000320740.7	+	8	1134	c.974C>A	c.(973-975)gCa>gAa	p.A325E	CTD-3074O7.5_ENST00000525142.1_RNA|CTD-3074O7.5_ENST00000602951.1_RNA|PELI3_ENST00000531856.1_Intron|CTD-3074O7.5_ENST00000527274.2_RNA|PELI3_ENST00000349459.6_Missense_Mutation_p.A301E|CTD-3074O7.5_ENST00000527092.1_RNA|CTD-3074O7.5_ENST00000533502.1_RNA	NM_001243136.1|NM_145065.2	NP_001230065.1|NP_659502.2	Q8N2H9	PELI3_HUMAN	pellino E3 ubiquitin protein ligase family member 3	325					defense response to Gram-negative bacterium (GO:0050829)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of Toll signaling pathway (GO:0045751)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|negative regulation of type I interferon production (GO:0032480)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|protein K63-linked ubiquitination (GO:0070534)|regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070428)|Toll signaling pathway (GO:0008063)	cytosol (GO:0005829)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						CGGCAGGAGGCAAATGCAGCG	0.706																																					p.A325E		Atlas-SNP	.											.	PELI3	36	.	0			c.C974A						.						16.0	18.0	17.0					11																	66243202		2175	4257	6432	SO:0001583	missense	246330	exon8			AGGAGGCAAATGC	AL834395	CCDS31615.1, CCDS41675.1, CCDS73328.1	11q13.2	2012-02-23	2012-02-23		ENSG00000174516	ENSG00000174516		"""Pellino homologs"""	30010	protein-coding gene	gene with protein product		609827	"""pellino homolog 3 (Drosophila)"""			12874243, 15917247	Standard	NM_145065		Approved	MGC35521	uc001oic.4	Q8N2H9	OTTHUMG00000167109	ENST00000320740.7:c.974C>A	chr11.hg19:g.66243202C>A	ENSP00000322532:p.Ala325Glu	65.0	0.0		104.0	41.0	NM_145065	Q8N3E1|Q8N9Q6|Q8TAW7|Q8TED5	Missense_Mutation	SNP	ENST00000320740.7	hg19	CCDS31615.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.067753	0.76301	.	.	ENSG00000174516	ENST00000349459;ENST00000320740;ENST00000526296	T;T;T	0.44482	0.92;0.92;0.92	5.14	4.21	0.49690	.	0.173579	0.39687	N	0.001298	T	0.28830	0.0715	N	0.08118	0	0.80722	D	1	P;P	0.51653	0.892;0.947	P;P	0.49887	0.491;0.625	T	0.14615	-1.0466	10	0.87932	D	0	-21.4884	6.8759	0.24147	0.0:0.7295:0.179:0.0915	.	301;325	Q8N2H9-2;Q8N2H9	.;PELI3_HUMAN	E	301;325;218	ENSP00000309848:A301E;ENSP00000322532:A325E;ENSP00000436722:A218E	ENSP00000322532:A325E	A	+	2	0	PELI3	65999778	1.000000	0.71417	0.972000	0.41901	0.988000	0.76386	4.808000	0.62583	1.358000	0.45922	0.561000	0.74099	GCA	.	.		0.706	PELI3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393226.1	NM_145065	
CLCF1	23529	hgsc.bcm.edu	37	11	67135026	67135026	+	Missense_Mutation	SNP	G	G	T	rs76168219	byFrequency	TCGA-QA-A7B7-01A-11D-A32G-10	TCGA-QA-A7B7-10A-01D-A32G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5e551b27-70d1-46fd-9a37-83d2cecac02d	6f59797f-d0a5-43b4-ae29-7f21022909d2	g.chr11:67135026G>T	ENST00000312438.7	-	2	285	c.88C>A	c.(88-90)Cgc>Agc	p.R30S	AP003419.11_ENST00000543494.1_RNA|CLCF1_ENST00000533438.1_Missense_Mutation_p.R20S|CLCF1_ENST00000528474.1_Missense_Mutation_p.R20S	NM_013246.2	NP_037378.1	Q9UBD9	CLCF1_HUMAN	cardiotrophin-like cytokine factor 1	30					B cell differentiation (GO:0030183)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell proliferation (GO:0008284)|positive regulation of immunoglobulin production (GO:0002639)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)	CNTFR-CLCF1 complex (GO:0097059)|CRLF-CLCF1 complex (GO:0097058)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	ciliary neurotrophic factor receptor binding (GO:0005127)|cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)			endometrium(1)|urinary_tract(1)	2			BRCA - Breast invasive adenocarcinoma(15;2.39e-06)			TCCCCTGTGCGATTGAGAGCT	0.627																																					p.R30S		Atlas-SNP	.											.	CLCF1	15	.	0			c.C88A						.						106.0	87.0	94.0					11																	67135026		2200	4295	6495	SO:0001583	missense	23529	exon2			CTGTGCGATTGAG	BC012939	CCDS31617.1, CCDS53666.1	11q13.3	2014-01-28	2006-07-03		ENSG00000175505	ENSG00000175505			17412	protein-coding gene	gene with protein product	"""B-cell stimulating factor 3"", ""cold-induced sweating syndrome 2"", ""novel neurotrophin-1"""	607672	"""CRLF1 associated cytokine-like factor 1"""			10500198, 10448081, 16782820	Standard	NM_001166212		Approved	NNT1, BSF3, CLC, NR6, CISS2, BSF-3, NNT-1	uc010rpp.2	Q9UBD9	OTTHUMG00000167669	ENST00000312438.7:c.88C>A	chr11.hg19:g.67135026G>T	ENSP00000309338:p.Arg30Ser	79.0	0.0		78.0	30.0	NM_013246	B4DNT4|Q6NZA4	Missense_Mutation	SNP	ENST00000312438.7	hg19	CCDS31617.1	.	.	.	.	.	.	.	.	.	.	G	8.627	0.892775	0.17613	.	.	ENSG00000175505	ENST00000312438;ENST00000533438;ENST00000528474	T;T;T	0.76316	-1.01;-1.01;-1.01	5.43	4.52	0.55395	.	0.311666	0.26556	N	0.023705	T	0.54481	0.1861	N	0.08118	0	0.25048	N	0.991152	B	0.12013	0.005	B	0.10450	0.005	T	0.46665	-0.9175	10	0.87932	D	0	-0.5423	2.9791	0.05947	0.1557:0.1416:0.5562:0.1465	.	30	Q9UBD9	CLCF1_HUMAN	S	30;20;20	ENSP00000309338:R30S;ENSP00000434122:R20S;ENSP00000432553:R20S	ENSP00000309338:R30S	R	-	1	0	CLCF1	66891602	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	2.473000	0.45145	1.433000	0.47394	0.591000	0.81541	CGC	.	G|0.997;A|0.003		0.627	CLCF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395478.1	NM_013246	
GPR152	390212	hgsc.bcm.edu	37	11	67219232	67219232	+	Missense_Mutation	SNP	G	G	C			TCGA-QA-A7B7-01A-11D-A32G-10	TCGA-QA-A7B7-10A-01D-A32G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5e551b27-70d1-46fd-9a37-83d2cecac02d	6f59797f-d0a5-43b4-ae29-7f21022909d2	g.chr11:67219232G>C	ENST00000312457.2	-	1	968	c.964C>G	c.(964-966)Ccg>Gcg	p.P322A	CABP4_ENST00000438189.2_5'Flank	NM_206997.1	NP_996880.1	Q8TDT2	GP152_HUMAN	G protein-coupled receptor 152	322						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			AAGCTGCCCGGCCGCTCCTCG	0.657																																					p.P322A	Pancreas(102;800 1581 2723 7382 33622)	Atlas-SNP	.											.	GPR152	41	.	0			c.C964G						.						42.0	43.0	43.0					11																	67219232		2200	4295	6495	SO:0001583	missense	390212	exon1			TGCCCGGCCGCTC	AY255600	CCDS8165.1	11q13.2	2013-09-20			ENSG00000175514	ENSG00000175514		"""GPCR / Class A : Orphans"""	23622	protein-coding gene	gene with protein product						12679517	Standard	NM_206997		Approved	PGR5	uc001olm.3	Q8TDT2	OTTHUMG00000168032	ENST00000312457.2:c.964C>G	chr11.hg19:g.67219232G>C	ENSP00000310255:p.Pro322Ala	55.0	0.0		61.0	25.0	NM_206997	Q0VD88|Q86SM0	Missense_Mutation	SNP	ENST00000312457.2	hg19	CCDS8165.1	.	.	.	.	.	.	.	.	.	.	G	7.618	0.676230	0.14841	.	.	ENSG00000175514	ENST00000312457	T	0.36520	1.25	4.3	3.3	0.37823	.	0.376128	0.19551	N	0.111577	T	0.24661	0.0598	L	0.36672	1.1	0.09310	N	1	P	0.42735	0.788	B	0.38985	0.287	T	0.07385	-1.0775	10	0.21014	T	0.42	.	8.9472	0.35767	0.1216:0.0:0.8784:0.0	.	322	Q8TDT2	GP152_HUMAN	A	322	ENSP00000310255:P322A	ENSP00000310255:P322A	P	-	1	0	GPR152	66975808	0.886000	0.30341	0.243000	0.24186	0.055000	0.15305	2.228000	0.42981	2.216000	0.71823	0.462000	0.41574	CCG	.	.		0.657	GPR152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397623.1		
IGHMBP2	3508	hgsc.bcm.edu	37	11	68701272	68701272	+	Silent	SNP	A	A	T			TCGA-QA-A7B7-01A-11D-A32G-10	TCGA-QA-A7B7-10A-01D-A32G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5e551b27-70d1-46fd-9a37-83d2cecac02d	6f59797f-d0a5-43b4-ae29-7f21022909d2	g.chr11:68701272A>T	ENST00000255078.3	+	10	1539	c.1428A>T	c.(1426-1428)ccA>ccT	p.P476P	IGHMBP2_ENST00000541229.1_3'UTR	NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	476					ATP catabolic process (GO:0006200)|cell death (GO:0008219)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)	axon (GO:0030424)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent 5'-3' RNA helicase activity (GO:0032575)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|RNA-dependent ATPase activity (GO:0008186)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)|tRNA binding (GO:0000049)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GGGACCTCCCAGGTGTGGCTG	0.642																																					p.P476P		Atlas-SNP	.											.	IGHMBP2	83	.	0			c.A1428T						.						33.0	34.0	34.0					11																	68701272		2199	4294	6493	SO:0001819	synonymous_variant	3508	exon10			CCTCCCAGGTGTG	L14754	CCDS8187.1	11q13.3	2014-09-17			ENSG00000132740	ENSG00000132740		"""Zinc fingers, AN1-type domain containing"""	5542	protein-coding gene	gene with protein product	"""cardiac transcription factor 1"", ""zinc finger, AN1-type domain 7"""	600502				8349627	Standard	NM_002180		Approved	ZFAND7, SMUBP2, CATF1, SMARD1, HCSA, HMN6	uc001ook.1	P38935	OTTHUMG00000167894	ENST00000255078.3:c.1428A>T	chr11.hg19:g.68701272A>T		72.0	0.0		63.0	36.0	NM_002180	A0PJD2|Q00443|Q14177	Silent	SNP	ENST00000255078.3	hg19	CCDS8187.1																																																																																			.	.		0.642	IGHMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396862.1	NM_002180	
MAML2	84441	hgsc.bcm.edu	37	11	95825257	95825257	+	Silent	SNP	T	T	C	rs575986134	byFrequency	TCGA-QA-A7B7-01A-11D-A32G-10	TCGA-QA-A7B7-10A-01D-A32G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5e551b27-70d1-46fd-9a37-83d2cecac02d	6f59797f-d0a5-43b4-ae29-7f21022909d2	g.chr11:95825257T>C	ENST00000524717.1	-	2	3222	c.1938A>G	c.(1936-1938)caA>caG	p.Q646Q		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	646					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				gctgctgctgttgttgctgct	0.517			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid								T|||	5	0.000998403	0.0	0.0	5008	,	,		17451	0.005		0.0	False		,,,				2504	0.0				p.Q646Q		Atlas-SNP	.		Dom	yes		11	11q22-q23	84441	mastermind-like 2 (Drosophila)		E	MAML2,colon,carcinoma,0,1	MAML2	94	.	0			c.A1938G						.						37.0	42.0	40.0					11																	95825257		2095	4114	6209	SO:0001819	synonymous_variant	84441	exon2			CTGCTGTTGTTGC	AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"""mastermind (Drosophila)-like 2"""			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.1938A>G	chr11.hg19:g.95825257T>C		156.0	1.0		184.0	9.0	NM_032427	A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Silent	SNP	ENST00000524717.1	hg19	CCDS44714.1																																																																																			.	.		0.517	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395540.1		
CACNA2D4	93589	hgsc.bcm.edu	37	12	1902886	1902886	+	Missense_Mutation	SNP	C	C	G			TCGA-QA-A7B7-01A-11D-A32G-10	TCGA-QA-A7B7-10A-01D-A32G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5e551b27-70d1-46fd-9a37-83d2cecac02d	6f59797f-d0a5-43b4-ae29-7f21022909d2	g.chr12:1902886C>G	ENST00000382722.5	-	38	3711	c.3349G>C	c.(3349-3351)Gcc>Ccc	p.A1117P	CACNA2D4_ENST00000588077.1_Missense_Mutation_p.A1053P|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.A1092P|CACNA2D4_ENST00000538027.2_Missense_Mutation_p.A262P|CACNA2D4_ENST00000538450.1_Missense_Mutation_p.A247P	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	1117					calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908)	voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		GGCGGCGAGGCTGAGGTGTCC	0.657																																					p.A1117P	Colon(2;101 179 21030 23310 28141)	Atlas-SNP	.											.	CACNA2D4	220	.	0			c.G3349C						.						30.0	38.0	35.0					12																	1902886		2062	4200	6262	SO:0001583	missense	93589	exon38			GCGAGGCTGAGGT	AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062		"""Calcium channel subunits"""	20202	protein-coding gene	gene with protein product		608171				12181424	Standard	NM_172364		Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.3349G>C	chr12.hg19:g.1902886C>G	ENSP00000372169:p.Ala1117Pro	104.0	0.0		138.0	55.0	NM_172364	Q7Z3S8|Q86XZ5|Q8IZS9	Missense_Mutation	SNP	ENST00000382722.5	hg19	CCDS44785.1	.	.	.	.	.	.	.	.	.	.	C	11.13	1.547709	0.27652	.	.	ENSG00000151062	ENST00000456077;ENST00000537784;ENST00000545595;ENST00000382722;ENST00000538027;ENST00000538450	T;T	0.61510	0.1;0.1	4.8	3.87	0.44632	.	0.405160	0.23908	N	0.043375	T	0.40322	0.1112	L	0.31578	0.945	0.80722	D	1	B	0.09022	0.002	B	0.08055	0.003	T	0.23655	-1.0182	10	0.05620	T	0.96	.	12.9306	0.58284	0.0:0.7761:0.2239:0.0	.	1117	Q7Z3S7	CA2D4_HUMAN	P	1053;184;184;1117;184;247	ENSP00000372169:A1117P;ENSP00000446341:A247P	ENSP00000372169:A1117P	A	-	1	0	CACNA2D4	1773147	0.882000	0.30256	0.169000	0.22859	0.491000	0.33493	1.587000	0.36622	1.117000	0.41842	0.561000	0.74099	GCC	.	.		0.657	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398230.2		
C1RL	51279	hgsc.bcm.edu	37	12	7249108	7249108	+	Missense_Mutation	SNP	T	T	C			TCGA-QA-A7B7-01A-11D-A32G-10	TCGA-QA-A7B7-10A-01D-A32G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5e551b27-70d1-46fd-9a37-83d2cecac02d	6f59797f-d0a5-43b4-ae29-7f21022909d2	g.chr12:7249108T>C	ENST00000266542.4	-	6	1435	c.1343A>G	c.(1342-1344)cAt>cGt	p.H448R	C1RL_ENST00000504702.2_Intron|C1RL_ENST00000544702.1_3'UTR|C1RL_ENST00000545280.1_Intron	NM_016546.2	NP_057630.2	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	448	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CACCCAGTGATGGGCATGATT	0.542																																					p.H448R		Atlas-SNP	.											.	C1RL	39	.	0			c.A1343G						.						133.0	114.0	120.0					12																	7249108		2203	4300	6503	SO:0001583	missense	51279	exon6			CAGTGATGGGCAT	AF178985	CCDS8573.1, CCDS73431.1	12p13.31	2008-02-05				ENSG00000139178			21265	protein-coding gene	gene with protein product		608974				12838346	Standard	XM_005253385		Approved	C1r-LP, C1RL1	uc001qsn.3	Q9NZP8		ENST00000266542.4:c.1343A>G	chr12.hg19:g.7249108T>C	ENSP00000266542:p.His448Arg	85.0	0.0		91.0	31.0	NM_016546	Q53GX9	Missense_Mutation	SNP	ENST00000266542.4	hg19	CCDS8573.1	.	.	.	.	.	.	.	.	.	.	T	7.051	0.564428	0.13498	.	.	ENSG00000139178	ENST00000266542	T	0.40225	1.04	4.98	-3.9	0.04181	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.848408	0.10475	N	0.670333	T	0.15825	0.0381	N	0.03224	-0.385	0.20307	N	0.999911	B	0.06786	0.001	B	0.15052	0.012	T	0.28808	-1.0032	10	0.18710	T	0.47	.	7.67	0.28453	0.1236:0.4755:0.0:0.4009	.	448	Q9NZP8	C1RL_HUMAN	R	448	ENSP00000266542:H448R	ENSP00000266542:H448R	H	-	2	0	C1RL	7140250	0.000000	0.05858	0.145000	0.22337	0.603000	0.37013	0.019000	0.13444	-0.912000	0.03837	-0.558000	0.04189	CAT	.	.		0.542	C1RL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398367.1	NM_016546	
AICDA	57379	hgsc.bcm.edu	37	12	8759531	8759531	+	Missense_Mutation	SNP	A	A	C			TCGA-QA-A7B7-01A-11D-A32G-10	TCGA-QA-A7B7-10A-01D-A32G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5e551b27-70d1-46fd-9a37-83d2cecac02d	6f59797f-d0a5-43b4-ae29-7f21022909d2	g.chr12:8759531A>C	ENST00000229335.6	-	2	189	c.86T>G	c.(85-87)cTg>cGg	p.L29R	AICDA_ENST00000537228.1_Missense_Mutation_p.L29R	NM_020661.2	NP_065712.1	Q9GZX7	AICDA_HUMAN	activation-induced cytidine deaminase	29	Nuclear localization signal.				B cell differentiation (GO:0030183)|cellular response to lipopolysaccharide (GO:0071222)|DNA demethylation (GO:0080111)|isotype switching (GO:0045190)|mRNA processing (GO:0006397)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|somatic diversification of immunoglobulins (GO:0016445)|somatic hypermutation of immunoglobulin genes (GO:0016446)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cytidine deaminase activity (GO:0004126)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16	Lung SC(5;0.184)					TACGTAGCACAGGTAGGTCTC	0.483																																					p.L29R	GBM(62;896 1067 5527 26594 30137)	Atlas-SNP	.											.	AICDA	37	.	0			c.T86G						.						81.0	77.0	78.0					12																	8759531		1957	4141	6098	SO:0001583	missense	57379	exon2			TAGCACAGGTAGG	AB040430	CCDS41747.1	12p13	2014-09-17			ENSG00000111732	ENSG00000111732		"""Apolipoprotein B mRNA editing enzymes"""	13203	protein-coding gene	gene with protein product		605257					Standard	NM_020661		Approved	HIGM2, CDA2, ARP2, AID	uc001qur.2	Q9GZX7	OTTHUMG00000168676	ENST00000229335.6:c.86T>G	chr12.hg19:g.8759531A>C	ENSP00000229335:p.Leu29Arg	47.0	0.0		77.0	29.0	NM_020661	Q6QJ81|Q8NFC1	Missense_Mutation	SNP	ENST00000229335.6	hg19	CCDS41747.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.479854|4.479854	0.84747|0.84747	.|.	.|.	ENSG00000111732|ENSG00000111732	ENST00000543081;ENST00000544516;ENST00000545512|ENST00000229335;ENST00000537228	.|D;D	.|0.83591	.|-1.74;-1.74	5.36|5.36	5.36|5.36	0.76844|0.76844	.|APOBEC-like, N-terminal (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.92760|0.92760	0.7698|0.7698	M|M	0.92122|0.92122	3.275|3.275	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.79784	.|0.993;0.993;0.993	D|D	0.94335|0.94335	0.7565|0.7565	5|10	.|0.87932	.|D	.|0	-15.8062|-15.8062	14.17|14.17	0.65503|0.65503	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|29;29;29	.|Q9GZX7;Q6QJ80;Q6QJ81	.|AICDA_HUMAN;.;.	G|R	28|29	.|ENSP00000229335:L29R;ENSP00000445691:L29R	.|ENSP00000229335:L29R	C|L	-|-	1|2	0|0	AICDA|AICDA	8650798|8650798	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	8.669000|8.669000	0.91163|0.91163	2.026000|2.026000	0.59711|0.59711	0.383000|0.383000	0.25322|0.25322	TGT|CTG	.	.		0.483	AICDA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400575.1	NM_020661	
ADAMTS20	80070	hgsc.bcm.edu	37	12	43828114	43828114	+	Missense_Mutation	SNP	T	T	G			TCGA-QA-A7B7-01A-11D-A32G-10	TCGA-QA-A7B7-10A-01D-A32G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5e551b27-70d1-46fd-9a37-83d2cecac02d	6f59797f-d0a5-43b4-ae29-7f21022909d2	g.chr12:43828114T>G	ENST00000389420.3	-	19	2653	c.2654A>C	c.(2653-2655)aAa>aCa	p.K885T	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.K885T|ADAMTS20_ENST00000395541.2_Missense_Mutation_p.K39T	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	885	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GTCACATTCTTTATCAGACAC	0.323																																					p.K885T		Atlas-SNP	.											.	ADAMTS20	635	.	0			c.A2654C						.						88.0	74.0	79.0					12																	43828114		2203	4300	6503	SO:0001583	missense	80070	exon19			CATTCTTTATCAG	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.2654A>C	chr12.hg19:g.43828114T>G	ENSP00000374071:p.Lys885Thr	147.0	0.0		147.0	71.0	NM_025003	A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	hg19	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	T	14.31	2.498144	0.44455	.	.	ENSG00000173157	ENST00000389420;ENST00000549670;ENST00000395541;ENST00000553158;ENST00000389417	T;T;T;T	0.60797	0.16;0.16;0.16;0.16	4.91	3.72	0.42706	.	0.291163	0.24400	N	0.038860	T	0.32133	0.0819	N	0.03608	-0.345	0.24389	N	0.994751	B;B	0.25235	0.002;0.121	B;B	0.21546	0.004;0.035	T	0.18085	-1.0348	10	0.33141	T	0.24	.	11.2484	0.49010	0.0:0.0744:0.0:0.9256	.	885;39	P59510;E9PBD5	ATS20_HUMAN;.	T	885;51;39;885;885	ENSP00000374071:K885T;ENSP00000447427:K51T;ENSP00000378911:K39T;ENSP00000448341:K885T	ENSP00000374068:K885T	K	-	2	0	ADAMTS20	42114381	1.000000	0.71417	0.964000	0.40570	0.851000	0.48451	4.532000	0.60608	0.918000	0.36919	0.533000	0.62120	AAA	.	.		0.323	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003	
ADAMTS20	80070	hgsc.bcm.edu	37	12	43828156	43828156	+	Missense_Mutation	SNP	A	A	G			TCGA-QA-A7B7-01A-11D-A32G-10	TCGA-QA-A7B7-10A-01D-A32G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5e551b27-70d1-46fd-9a37-83d2cecac02d	6f59797f-d0a5-43b4-ae29-7f21022909d2	g.chr12:43828156A>G	ENST00000389420.3	-	19	2611	c.2612T>C	c.(2611-2613)aTa>aCa	p.I871T	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.I871T|ADAMTS20_ENST00000395541.2_Missense_Mutation_p.I25T	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	871	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TATGCAAGTTATGTTTCTTCG	0.333																																					p.I871T		Atlas-SNP	.											.	ADAMTS20	635	.	0			c.T2612C						.						73.0	59.0	64.0					12																	43828156		2203	4298	6501	SO:0001583	missense	80070	exon19			CAAGTTATGTTTC	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.2612T>C	chr12.hg19:g.43828156A>G	ENSP00000374071:p.Ile871Thr	121.0	0.0		120.0	53.0	NM_025003	A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	hg19	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	A	14.70	2.612922	0.46631	.	.	ENSG00000173157	ENST00000389420;ENST00000549670;ENST00000395541;ENST00000553158;ENST00000389417	T;T;T;T	0.61040	0.14;0.14;0.14;0.14	4.91	4.91	0.64330	.	0.256439	0.27060	N	0.021133	T	0.57873	0.2083	M	0.76002	2.32	0.25405	N	0.988402	P;D	0.54207	0.791;0.965	B;B	0.41860	0.368;0.366	T	0.58387	-0.7645	10	0.26408	T	0.33	.	15.2455	0.73504	1.0:0.0:0.0:0.0	.	871;25	P59510;E9PBD5	ATS20_HUMAN;.	T	871;37;25;871;871	ENSP00000374071:I871T;ENSP00000447427:I37T;ENSP00000378911:I25T;ENSP00000448341:I871T	ENSP00000374068:I871T	I	-	2	0	ADAMTS20	42114423	0.688000	0.27680	0.475000	0.27278	0.855000	0.48748	2.689000	0.46993	2.127000	0.65507	0.533000	0.62120	ATA	.	.		0.333	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003	
GRIP1	23426	hgsc.bcm.edu	37	12	66838427	66838427	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QA-A7B7-01A-11D-A32G-10	TCGA-QA-A7B7-10A-01D-A32G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5e551b27-70d1-46fd-9a37-83d2cecac02d	6f59797f-d0a5-43b4-ae29-7f21022909d2	g.chr12:66838427G>A	ENST00000398016.3	-	12	1536	c.1468C>T	c.(1468-1470)Cag>Tag	p.Q490*	GRIP1_ENST00000286445.7_Nonsense_Mutation_p.Q542*|GRIP1_ENST00000359742.4_Nonsense_Mutation_p.Q542*	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0					intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		CGGAGGAGCTGACTGGCTTCT	0.463																																					p.Q490X		Atlas-SNP	.											.	GRIP1	106	.	0			c.C1468T						.						122.0	123.0	122.0					12																	66838427		1961	4146	6107	SO:0001587	stop_gained	23426	exon12			GGAGCTGACTGGC	AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.1468C>T	chr12.hg19:g.66838427G>A	ENSP00000381098:p.Gln490*	187.0	0.0		171.0	58.0	NM_001178074	B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Nonsense_Mutation	SNP	ENST00000398016.3	hg19	CCDS41807.1	.	.	.	.	.	.	.	.	.	.	G	39	7.661230	0.98419	.	.	ENSG00000155974	ENST00000398016;ENST00000359742;ENST00000286445;ENST00000538211;ENST00000540433;ENST00000536215	.	.	.	5.61	5.61	0.85477	.	0.114988	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-7.2371	19.6387	0.95748	0.0:0.0:1.0:0.0	.	.	.	.	X	490;542;542;490;434;382	.	.	Q	-	1	0	GRIP1	65124694	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.476000	0.97823	2.641000	0.89580	0.544000	0.68410	CAG	.	.		0.463	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401975.2		
CCDC63	160762	hgsc.bcm.edu	37	12	111336787	111336787	+	Silent	SNP	C	C	T	rs141258896		TCGA-QA-A7B7-01A-11D-A32G-10	TCGA-QA-A7B7-10A-01D-A32G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5e551b27-70d1-46fd-9a37-83d2cecac02d	6f59797f-d0a5-43b4-ae29-7f21022909d2	g.chr12:111336787C>T	ENST00000308208.5	+	10	1442	c.1200C>T	c.(1198-1200)taC>taT	p.Y400Y	CCDC63_ENST00000545036.1_Silent_p.Y360Y|CCDC63_ENST00000552694.1_Silent_p.Y321Y	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	400										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						AGAGCAAGTACGGGGAGGTCA	0.512													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17309	0.0		0.0	False		,,,				2504	0.0				p.Y400Y		Atlas-SNP	.											.	CCDC63	89	.	0			c.C1200T						.	C		2,4404	4.2+/-10.8	0,2,2201	111.0	104.0	106.0		1200	4.5	0.0	12	dbSNP_134	106	0,8600		0,0,4300	no	coding-synonymous	CCDC63	NM_152591.1		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		400/564	111336787	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	160762	exon10			CAAGTACGGGGAG	AK093162	CCDS9151.1, CCDS66470.1, CCDS73528.1	12q24.11	2013-02-19				ENSG00000173093			26669	protein-coding gene	gene with protein product	"""outer row dynein assembly 5 homolog (Chlamydomonas)"""						Standard	NM_001286243		Approved	ODA5, FLJ35843	uc001trv.1	Q8NA47	OTTHUMG00000169534	ENST00000308208.5:c.1200C>T	chr12.hg19:g.111336787C>T		65.0	0.0		76.0	39.0	NM_152591	B4DY03|Q0P603|Q6P2E1	Silent	SNP	ENST00000308208.5	hg19	CCDS9151.1																																																																																			.	C|1.000;T|0.000		0.512	CCDC63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404673.2	NM_152591	
UGGT2	55757	hgsc.bcm.edu	37	13	96579585	96579585	+	Silent	SNP	T	T	C			TCGA-QA-A7B7-01A-11D-A32G-10	TCGA-QA-A7B7-10A-01D-A32G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5e551b27-70d1-46fd-9a37-83d2cecac02d	6f59797f-d0a5-43b4-ae29-7f21022909d2	g.chr13:96579585T>C	ENST00000376747.3	-	18	2053	c.1983A>G	c.(1981-1983)acA>acG	p.T661T		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	661					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-glucosylation (GO:0097359)	endoplasmic reticulum lumen (GO:0005788)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						GATCATTTAATGTGCCCTAAA	0.299																																					p.T661T		Atlas-SNP	.											.	UGGT2	127	.	0			c.A1983G						.						58.0	57.0	58.0					13																	96579585		2203	4295	6498	SO:0001819	synonymous_variant	55757	exon18			ATTTAATGTGCCC	AF227906	CCDS9480.1	13q32.1	2009-07-23	2009-07-23	2009-07-23	ENSG00000102595	ENSG00000102595			15664	protein-coding gene	gene with protein product	"""UDP-glucose:glycoprotein glucosyltransferase 2"""	605898	"""UDP-glucose ceramide glucosyltransferase-like 2"""	UGCGL2		10694380	Standard	NM_020121		Approved	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360	uc001vmt.3	Q9NYU1	OTTHUMG00000017230	ENST00000376747.3:c.1983A>G	chr13.hg19:g.96579585T>C		136.0	0.0		198.0	88.0	NM_020121	A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Silent	SNP	ENST00000376747.3	hg19	CCDS9480.1																																																																																			.	.		0.299	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045507.1	NM_020121	
RABGGTA	5875	hgsc.bcm.edu	37	14	24734864	24734864	+	Missense_Mutation	SNP	T	T	A			TCGA-QA-A7B7-01A-11D-A32G-10	TCGA-QA-A7B7-10A-01D-A32G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5e551b27-70d1-46fd-9a37-83d2cecac02d	6f59797f-d0a5-43b4-ae29-7f21022909d2	g.chr14:24734864T>A	ENST00000399409.3	-	16	2144	c.1661A>T	c.(1660-1662)cAa>cTa	p.Q554L	RABGGTA_ENST00000216840.6_Missense_Mutation_p.Q554L|RABGGTA_ENST00000560777.1_Missense_Mutation_p.Q163L|TGM1_ENST00000544573.1_5'Flank|TGM1_ENST00000206765.6_5'Flank	NM_004581.5	NP_004572.3	Q92696	PGTA_HUMAN	Rab geranylgeranyltransferase, alpha subunit	554					cellular protein modification process (GO:0006464)|protein geranylgeranylation (GO:0018344)|visual perception (GO:0007601)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12				GBM - Glioblastoma multiforme(265;0.0184)		TTCAGCCAGTTGCTCCAAGAT	0.587																																					p.Q554L		Atlas-SNP	.											.	RABGGTA	43	.	0			c.A1661T						.						40.0	44.0	43.0					14																	24734864		2025	4191	6216	SO:0001583	missense	5875	exon16			GCCAGTTGCTCCA		CCDS45088.1	14q11.2	2011-06-27				ENSG00000100949		"""Prenyltransferase alpha subunit repeat containing"""	9795	protein-coding gene	gene with protein product	"""protein prenyltransferase alpha subunit repeat containing 3"""	601905				8954794	Standard	NM_182836		Approved	PTAR3	uc001wog.4	Q92696		ENST00000399409.3:c.1661A>T	chr14.hg19:g.24734864T>A	ENSP00000382341:p.Gln554Leu	45.0	0.0		46.0	20.0	NM_004581	A8K5N2|D3DS69	Missense_Mutation	SNP	ENST00000399409.3	hg19	CCDS45088.1	.	.	.	.	.	.	.	.	.	.	T	10.87	1.471824	0.26423	.	.	ENSG00000100949	ENST00000216840;ENST00000399409	T;T	0.49720	0.77;0.77	5.67	3.33	0.38152	.	1.031460	0.07628	N	0.928062	T	0.33177	0.0854	N	0.22421	0.69	0.21950	N	0.999459	B	0.02656	0.0	B	0.01281	0.0	T	0.26744	-1.0094	10	0.25106	T	0.35	-0.2127	7.4138	0.27032	0.0:0.1775:0.0:0.8225	.	554	Q92696	PGTA_HUMAN	L	554	ENSP00000216840:Q554L;ENSP00000382341:Q554L	ENSP00000216840:Q554L	Q	-	2	0	RABGGTA	23804704	0.997000	0.39634	0.123000	0.21794	0.582000	0.36321	2.630000	0.46494	0.445000	0.26639	0.379000	0.24179	CAA	.	.		0.587	RABGGTA-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415308.5	NM_182836	
DCAF5	8816	hgsc.bcm.edu	37	14	69520835	69520835	+	Silent	SNP	C	C	T			TCGA-QA-A7B7-01A-11D-A32G-10	TCGA-QA-A7B7-10A-01D-A32G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5e551b27-70d1-46fd-9a37-83d2cecac02d	6f59797f-d0a5-43b4-ae29-7f21022909d2	g.chr14:69520835C>T	ENST00000341516.5	-	9	2715	c.2568G>A	c.(2566-2568)gtG>gtA	p.V856V	DCAF5_ENST00000553293.1_5'Flank|DCAF5_ENST00000554215.1_Silent_p.V774V|DCAF5_ENST00000557386.1_Silent_p.V855V|DCAF5_ENST00000556847.1_Silent_p.V774V	NM_001284206.1|NM_001284207.1|NM_003861.2	NP_001271135.1|NP_001271136.1|NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	856					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|mitochondrion (GO:0005739)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						AGTAGGCCACCACCTCCAGCT	0.562																																					p.V856V		Atlas-SNP	.											.	DCAF5	67	.	0			c.G2568A						.						128.0	112.0	118.0					14																	69520835		2203	4300	6503	SO:0001819	synonymous_variant	8816	exon9			GGCCACCACCTCC	AB058727	CCDS32106.1, CCDS61480.1, CCDS61481.1, CCDS73646.1	14q23-q24.1	2013-01-09	2009-07-17	2009-07-17				"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	20224	protein-coding gene	gene with protein product		603812	"""WD repeat domain 22"""	WDR22		9740667, 9521877	Standard	NM_003861		Approved	BCRP2, D14S1461E, BCRG2, KIAA1824	uc001xkp.3	Q96JK2		ENST00000341516.5:c.2568G>A	chr14.hg19:g.69520835C>T		73.0	0.0		93.0	28.0	NM_003861	B2RN31|G3V4J7|O60559|Q8N3V3|Q8N3V5	Silent	SNP	ENST00000341516.5	hg19	CCDS32106.1																																																																																			.	.		0.562	DCAF5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414806.2	NM_003861	
CHGA	1113	hgsc.bcm.edu	37	14	93397788	93397788	+	Silent	SNP	C	C	G			TCGA-QA-A7B7-01A-11D-A32G-10	TCGA-QA-A7B7-10A-01D-A32G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5e551b27-70d1-46fd-9a37-83d2cecac02d	6f59797f-d0a5-43b4-ae29-7f21022909d2	g.chr14:93397788C>G	ENST00000216492.5	+	6	829	c.549C>G	c.(547-549)acC>acG	p.T183T	CHGA_ENST00000553866.1_3'UTR|CHGA_ENST00000334654.4_Intron	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN	chromogranin A (parathyroid secretory protein 1)	183	O-glycosylated at one site only in cerebrospinal fluid.				regulation of blood pressure (GO:0008217)	extracellular region (GO:0005576)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|secretory granule (GO:0030141)				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		CCACCAACACCCACCCTCCAG	0.677																																					p.T183T	Colon(31;154 822 45066 49155)|NSCLC(28;804 1157 13734 25204)	Atlas-SNP	.											.	CHGA	32	.	0			c.C549G						.						25.0	28.0	27.0					14																	93397788		2200	4299	6499	SO:0001819	synonymous_variant	1113	exon6			CAACACCCACCCT		CCDS9906.1	14q32	2012-10-02			ENSG00000100604	ENSG00000100604			1929	protein-coding gene	gene with protein product	"""vasostatin"", ""pancreastatin"", ""parastatin"""	118910				3403545	Standard	NM_001275		Approved		uc001ybc.4	P10645		ENST00000216492.5:c.549C>G	chr14.hg19:g.93397788C>G		34.0	0.0		14.0	12.0	NM_001275	B2R9E9|Q53FA8|Q6NR84|Q96E84|Q96GL7|Q9BQB5	Silent	SNP	ENST00000216492.5	hg19	CCDS9906.1																																																																																			.	.		0.677	CHGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412411.1	NM_001275	
MYO1E	4643	hgsc.bcm.edu	37	15	59500993	59500993	+	Missense_Mutation	SNP	C	C	A			TCGA-QA-A7B7-01A-11D-A32G-10	TCGA-QA-A7B7-10A-01D-A32G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5e551b27-70d1-46fd-9a37-83d2cecac02d	6f59797f-d0a5-43b4-ae29-7f21022909d2	g.chr15:59500993C>A	ENST00000288235.4	-	14	1816	c.1417G>T	c.(1417-1419)Gtg>Ttg	p.V473L		NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	473	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		CCCTCACCCACCGCATGCATC	0.537																																					p.V473L		Atlas-SNP	.											.	MYO1E	99	.	0			c.G1417T						.						148.0	124.0	132.0					15																	59500993		2191	4290	6481	SO:0001583	missense	4643	exon14			CACCCACCGCATG	U14391	CCDS32254.1	15q21-q22	2011-09-27				ENSG00000157483		"""Myosins / Myosin superfamily : Class I"""	7599	protein-coding gene	gene with protein product	"""myosin-IC"""	601479				8884266	Standard	NM_004998		Approved	MYO1C, HuncM-IC, MGC104638	uc002aga.4	Q12965		ENST00000288235.4:c.1417G>T	chr15.hg19:g.59500993C>A	ENSP00000288235:p.Val473Leu	76.0	0.0		95.0	37.0	NM_004998	Q14778	Missense_Mutation	SNP	ENST00000288235.4	hg19	CCDS32254.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.832662	0.50845	.	.	ENSG00000157483	ENST00000288235	D	0.86097	-2.07	5.37	5.37	0.77165	Myosin head, motor domain (2);	0.119081	0.64402	D	0.000020	D	0.85626	0.5740	L	0.60455	1.87	0.50171	D	0.999851	B	0.34061	0.436	B	0.39935	0.314	T	0.82563	-0.0395	10	0.27082	T	0.32	.	19.4857	0.95027	0.0:1.0:0.0:0.0	.	473	Q12965	MYO1E_HUMAN	L	473	ENSP00000288235:V473L	ENSP00000288235:V473L	V	-	1	0	MYO1E	57288285	1.000000	0.71417	0.988000	0.46212	0.952000	0.60782	4.443000	0.59994	2.677000	0.91161	0.561000	0.74099	GTG	.	.		0.537	MYO1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416024.1	NM_004998	
HERC1	8925	hgsc.bcm.edu	37	15	63978599	63978599	+	Silent	SNP	A	A	G			TCGA-QA-A7B7-01A-11D-A32G-10	TCGA-QA-A7B7-10A-01D-A32G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5e551b27-70d1-46fd-9a37-83d2cecac02d	6f59797f-d0a5-43b4-ae29-7f21022909d2	g.chr15:63978599A>G	ENST00000443617.2	-	34	6271	c.6184T>C	c.(6184-6186)Ttg>Ctg	p.L2062L	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2062	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GTAGATGCCAATCCATATCCT	0.418																																					p.L2062L		Atlas-SNP	.											.	HERC1	624	.	0			c.T6184C						.						189.0	190.0	190.0					15																	63978599		1933	4145	6078	SO:0001819	synonymous_variant	8925	exon34			ATGCCAATCCATA	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.6184T>C	chr15.hg19:g.63978599A>G		137.0	0.0		124.0	67.0	NM_003922	Q8IW65	Silent	SNP	ENST00000443617.2	hg19	CCDS45277.1																																																																																			.	.		0.418	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922	
SNX33	257364	hgsc.bcm.edu	37	15	75942327	75942327	+	Missense_Mutation	SNP	C	C	T			TCGA-QA-A7B7-01A-11D-A32G-10	TCGA-QA-A7B7-10A-01D-A32G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5e551b27-70d1-46fd-9a37-83d2cecac02d	6f59797f-d0a5-43b4-ae29-7f21022909d2	g.chr15:75942327C>T	ENST00000308527.5	+	1	2081	c.884C>T	c.(883-885)aCt>aTt	p.T295I	IMP3_ENST00000565349.1_5'Flank|IMP3_ENST00000314852.2_5'Flank	NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33	295	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|macropinocytosis (GO:0044351)|membrane tubulation (GO:0097320)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|negative regulation of endocytosis (GO:0045806)|negative regulation of protein localization to cell surface (GO:2000009)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein localization to cell surface (GO:2000010)|protein import (GO:0017038)	cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						AAGCAGGCCACTGGCCGCTTC	0.582																																					p.T295I		Atlas-SNP	.											.	SNX33	43	.	0			c.C884T						.						93.0	99.0	97.0					15																	75942327		2197	4294	6491	SO:0001583	missense	257364	exon1			AGGCCACTGGCCG	AK091291	CCDS10283.1	15q23	2008-04-18	2008-03-25	2008-03-25	ENSG00000173548	ENSG00000173548			28468	protein-coding gene	gene with protein product			"""SH3 and PX domain containing 3"""	SH3PX3		16374509, 16782399, 18353773	Standard	NM_153271		Approved	MGC32065, SH3PXD3C, SNX30	uc002bau.3	Q8WV41	OTTHUMG00000142835	ENST00000308527.5:c.884C>T	chr15.hg19:g.75942327C>T	ENSP00000311427:p.Thr295Ile	68.0	0.0		81.0	31.0	NM_153271	B1NM17	Missense_Mutation	SNP	ENST00000308527.5	hg19	CCDS10283.1	.	.	.	.	.	.	.	.	.	.	C	12.63	1.995793	0.35226	.	.	ENSG00000173548	ENST00000308527	T	0.37411	1.2	5.68	5.68	0.88126	Phox homologous domain (5);	0.097518	0.64402	D	0.000002	T	0.50803	0.1637	L	0.37466	1.105	0.80722	D	1	D	0.69078	0.997	D	0.72982	0.979	T	0.50398	-0.8833	10	0.87932	D	0	-2.935	15.928	0.79635	0.0:0.865:0.135:0.0	.	295	Q8WV41	SNX33_HUMAN	I	295	ENSP00000311427:T295I	ENSP00000311427:T295I	T	+	2	0	SNX33	73729382	1.000000	0.71417	0.986000	0.45419	0.993000	0.82548	7.817000	0.86213	2.692000	0.91855	0.561000	0.74099	ACT	.	.		0.582	SNX33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286471.1	NM_153271	
ITFG3	83986	hgsc.bcm.edu	37	16	312457	312457	+	Silent	SNP	C	C	T			TCGA-QA-A7B7-01A-11D-A32G-10	TCGA-QA-A7B7-10A-01D-A32G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5e551b27-70d1-46fd-9a37-83d2cecac02d	6f59797f-d0a5-43b4-ae29-7f21022909d2	g.chr16:312457C>T	ENST00000399932.3	+	8	1327	c.876C>T	c.(874-876)ctC>ctT	p.L292L	ITFG3_ENST00000450082.2_Silent_p.L292L|ITFG3_ENST00000600536.1_Silent_p.L292L|ITFG3_ENST00000442458.2_Silent_p.L292L|ITFG3_ENST00000301679.2_Silent_p.L292L|ITFG3_ENST00000301678.3_Silent_p.L292L	NM_001284497.1	NP_001271426.1	Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	292						cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				TGAAGGGTCTCTACGAGAAGG	0.632																																					p.L292L		Atlas-SNP	.											.	ITFG3	42	.	0			c.C876T						.						48.0	53.0	51.0					16																	312457		1939	4129	6068	SO:0001819	synonymous_variant	83986	exon8			GGGTCTCTACGAG	AL136542	CCDS10402.1	16p13.3	2006-03-31	2006-03-31	2006-03-31	ENSG00000167930	ENSG00000167930			14163	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 9"""	C16orf9			Standard	XM_005255622		Approved	DKFZP761D0211, FLJ32603	uc002cgf.3	Q9H0X4	OTTHUMG00000060728	ENST00000399932.3:c.876C>T	chr16.hg19:g.312457C>T		34.0	0.0		72.0	24.0	NM_032039	D3DU45|Q7L416|Q96FR1|Q96MC7|Q96S30	Silent	SNP	ENST00000399932.3	hg19	CCDS10402.1																																																																																			.	.		0.632	ITFG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134227.2	NM_032039	
ZG16B	124220	hgsc.bcm.edu	37	16	2880717	2880717	+	Silent	SNP	C	C	T			TCGA-QA-A7B7-01A-11D-A32G-10	TCGA-QA-A7B7-10A-01D-A32G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5e551b27-70d1-46fd-9a37-83d2cecac02d	6f59797f-d0a5-43b4-ae29-7f21022909d2	g.chr16:2880717C>T	ENST00000382280.3	+	3	262	c.183C>T	c.(181-183)ggC>ggT	p.G61G	ZG16B_ENST00000572863.1_Silent_p.G31G	NM_145252.2	NP_660295.2	Q96DA0	ZG16B_HUMAN	zymogen granule protein 16B	61					retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5						CTGGAGGAGGCAAGTATTTCA	0.522																																					p.G61G		Atlas-SNP	.											.	ZG16B	16	.	0			c.C183T						.						202.0	206.0	205.0					16																	2880717		1936	4140	6076	SO:0001819	synonymous_variant	124220	exon3			AGGAGGCAAGTAT	BC009722	CCDS10479.2	16p13.3	2014-02-12	2012-12-07		ENSG00000162078	ENSG00000162078			30456	protein-coding gene	gene with protein product	"""jacalin-like lectin domain containing 2"""		"""zymogen granule protein 16 homolog B (rat)"""			12477932	Standard	NM_145252		Approved	HRPE773, PRO1567, JCLN2	uc002cru.3	Q96DA0	OTTHUMG00000128933	ENST00000382280.3:c.183C>T	chr16.hg19:g.2880717C>T		87.0	0.0		119.0	22.0	NM_145252	A6NIY1|B2R4F6|Q6UW28	Silent	SNP	ENST00000382280.3	hg19	CCDS10479.2																																																																																			.	.		0.522	ZG16B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250912.1	NM_145252	
MTSS1L	92154	hgsc.bcm.edu	37	16	70698047	70698047	+	Missense_Mutation	SNP	C	C	T			TCGA-QA-A7B7-01A-11D-A32G-10	TCGA-QA-A7B7-10A-01D-A32G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5e551b27-70d1-46fd-9a37-83d2cecac02d	6f59797f-d0a5-43b4-ae29-7f21022909d2	g.chr16:70698047C>T	ENST00000338779.6	-	15	2051	c.1777G>A	c.(1777-1779)Gtg>Atg	p.V593M	FLJ00418_ENST00000597002.1_5'UTR	NM_138383.2	NP_612392.1	Q765P7	MTSSL_HUMAN	metastasis suppressor 1-like	593					filopodium assembly (GO:0046847)|signal transduction (GO:0007165)					breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1)	7						GGCGTCTTCACAGGGACGATG	0.716																																					p.V593M		Atlas-SNP	.											.	MTSS1L	22	.	0			c.G1777A						.						23.0	20.0	21.0					16																	70698047		2185	4262	6447	SO:0001583	missense	92154	exon15			TCTTCACAGGGAC		CCDS32476.1	16q22.1	2008-12-16				ENSG00000132613			25094	protein-coding gene	gene with protein product	"""actin-bundling protein with BAIAP2 homology"""					12477932	Standard	XM_006721335		Approved	ABBA-1, LOC92154	uc002ezj.3	Q765P7		ENST00000338779.6:c.1777G>A	chr16.hg19:g.70698047C>T	ENSP00000341171:p.Val593Met	36.0	0.0		27.0	19.0	NM_138383	A6NJI7|Q9BUA8	Missense_Mutation	SNP	ENST00000338779.6	hg19	CCDS32476.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.615168	0.87359	.	.	ENSG00000132613	ENST00000338779	T	0.39229	1.09	4.38	4.38	0.52667	.	0.000000	0.85682	D	0.000000	T	0.63224	0.2493	M	0.72894	2.215	0.50467	D	0.999879	D	0.89917	1.0	D	0.79784	0.993	T	0.65150	-0.6238	10	0.41790	T	0.15	-20.8792	16.5688	0.84606	0.0:1.0:0.0:0.0	.	593	Q765P7	MTSSL_HUMAN	M	593	ENSP00000341171:V593M	ENSP00000341171:V593M	V	-	1	0	MTSS1L	69255548	1.000000	0.71417	0.983000	0.44433	0.959000	0.62525	5.912000	0.69948	1.964000	0.57103	0.462000	0.41574	GTG	.	.		0.716	MTSS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434927.3	NM_138383	
TP53	7157	hgsc.bcm.edu	37	17	7577534	7577534	+	Missense_Mutation	SNP	C	C	A	rs28934571		TCGA-QA-A7B7-01A-11D-A32G-10	TCGA-QA-A7B7-10A-01D-A32G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5e551b27-70d1-46fd-9a37-83d2cecac02d	6f59797f-d0a5-43b4-ae29-7f21022909d2	g.chr17:7577534C>A	ENST00000269305.4	-	7	936	c.747G>T	c.(745-747)agG>agT	p.R249S	TP53_ENST00000359597.4_Missense_Mutation_p.R249S|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.R249S|TP53_ENST00000455263.2_Missense_Mutation_p.R249S|TP53_ENST00000445888.2_Missense_Mutation_p.R249S|TP53_ENST00000420246.2_Missense_Mutation_p.R249S	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	249	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> I (in a sporadic cancer; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).|R -> M (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; dbSNP:rs28934571). {ECO:0000269|PubMed:1694291, ECO:0000269|PubMed:16959974}.|R -> T (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R249S(348)|p.0?(8)|p.R249R(5)|p.?(5)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.R249_P250delRP(1)|p.R249_P250insR(1)|p.R249_P250>SS(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*14(1)|p.R249_T256delRPILTIIT(1)|p.P250fs*14(1)|p.R249_I251delRPI(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TGAGGATGGGCCTCCGGTTCA	0.572		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											p.R249S	Pancreas(47;798 1329 9957 10801)	Atlas-SNP	.	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	TP53_ENST00000455263,right_lower_lobe,carcinoma,-2,1	TP53	33396	.	378	Substitution - Missense(348)|Deletion - In frame(8)|Whole gene deletion(8)|Unknown(5)|Substitution - coding silent(5)|Insertion - Frameshift(1)|Insertion - In frame(1)|Deletion - Frameshift(1)|Complex - compound substitution(1)	liver(240)|lung(44)|upper_aerodigestive_tract(12)|breast(12)|central_nervous_system(10)|stomach(7)|ovary(6)|prostate(6)|cervix(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(5)|biliary_tract(5)|urinary_tract(5)|bone(4)|endometrium(3)|oesophagus(3)|skin(2)|peritoneum(1)|kidney(1)|salivary_gland(1)|pancreas(1)	c.G747T						.						155.0	113.0	127.0					17																	7577534		2203	4300	6503	SO:0001583	missense	7157	exon7	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	GATGGGCCTCCGG	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.747G>T	chr17.hg19:g.7577534C>A	ENSP00000269305:p.Arg249Ser	74.0	0.0		51.0	39.0	NM_000546	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	hg19	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.344264	0.61073	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D;D	0.99865	-7.29;-7.29;-7.29;-7.29;-7.29;-7.29;-7.29	4.62	-0.0929	0.13654	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99792	0.9912	M	0.92367	3.3	0.50039	D	0.999848	D;D;D;D;D	0.89917	0.996;0.996;0.997;0.99;1.0	D;D;D;D;D	0.79108	0.968;0.966;0.981;0.955;0.992	D	0.98720	1.0708	10	0.72032	D	0.01	-3.0658	3.2479	0.06803	0.1392:0.5551:0.1362:0.1695	rs28934571	249;249;249;249;249	P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;P53_HUMAN;.;.	S	249;249;249;249;249;249;238;117	ENSP00000410739:R249S;ENSP00000352610:R249S;ENSP00000269305:R249S;ENSP00000398846:R249S;ENSP00000391127:R249S;ENSP00000391478:R249S;ENSP00000425104:R117S	ENSP00000269305:R249S	R	-	3	2	TP53	7518259	0.011000	0.17503	0.998000	0.56505	0.783000	0.44284	-1.379000	0.02554	0.253000	0.21552	0.462000	0.41574	AGG	.	.		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
KRTAP16-1	100505753	hgsc.bcm.edu	37	17	39464645	39464645	+	Missense_Mutation	SNP	G	G	T			TCGA-QA-A7B7-01A-11D-A32G-10	TCGA-QA-A7B7-10A-01D-A32G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5e551b27-70d1-46fd-9a37-83d2cecac02d	6f59797f-d0a5-43b4-ae29-7f21022909d2	g.chr17:39464645G>T	ENST00000391352.1	-	1	860	c.861C>A	c.(859-861)agC>agA	p.S287R		NM_001146182.1	NP_001139654.1	A8MUX0	KR161_HUMAN	keratin associated protein 16-1	287	11 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				haematopoietic_and_lymphoid_tissue(1)	1						GCTCGCACGAGCTCTGAACAC	0.587																																					p.S287R		Atlas-SNP	.											.	KRTAP16-1	12	.	0			c.C861A						.																																			SO:0001583	missense	100505753	exon1			GCACGAGCTCTGA	AP001708	CCDS56032.1	17q21.2	2012-07-04			ENSG00000212657	ENSG00000212657		"""Keratin associated proteins"""	18916	protein-coding gene	gene with protein product							Standard	NM_001146182		Approved	KAP16.1	uc021txi.1	A8MUX0	OTTHUMG00000133640	ENST00000391352.1:c.861C>A	chr17.hg19:g.39464645G>T	ENSP00000375147:p.Ser287Arg	37.0	0.0		45.0	20.0	NM_001146182		Missense_Mutation	SNP	ENST00000391352.1	hg19	CCDS56032.1	.	.	.	.	.	.	.	.	.	.	G	7.852	0.724229	0.15439	.	.	ENSG00000212657	ENST00000391352	T	0.01584	4.75	5.17	1.56	0.23342	.	.	.	.	.	T	0.02494	0.0076	L	0.40543	1.245	0.24229	N	0.995406	.	.	.	.	.	.	T	0.45804	-0.9236	7	0.54805	T	0.06	.	5.8491	0.18683	0.4923:0.0:0.5077:0.0	.	.	.	.	R	287	ENSP00000375147:S287R	ENSP00000375147:S287R	S	-	3	2	KRTAP16-1	36718171	0.905000	0.30787	0.912000	0.35992	0.203000	0.24098	0.623000	0.24447	0.580000	0.29522	0.491000	0.48974	AGC	.	.		0.587	KRTAP16-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257785.1	NM_001146182	
SLC35B1	10237	hgsc.bcm.edu	37	17	47784394	47784394	+	Silent	SNP	C	C	T			TCGA-QA-A7B7-01A-11D-A32G-10	TCGA-QA-A7B7-10A-01D-A32G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5e551b27-70d1-46fd-9a37-83d2cecac02d	6f59797f-d0a5-43b4-ae29-7f21022909d2	g.chr17:47784394C>T	ENST00000240333.6	-	2	262	c.141G>A	c.(139-141)gaG>gaA	p.E47E	SLC35B1_ENST00000415270.2_Silent_p.E84E|RP11-613C6.2_ENST00000512720.1_RNA			P78383	S35B1_HUMAN	solute carrier family 35, member B1	47					transport (GO:0006810)|UDP-galactose transmembrane transport (GO:0072334)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	UDP-galactose transmembrane transporter activity (GO:0005459)			endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(1)	7						AGGTGAACGTCTCCTGCTTGG	0.408																																					p.E47E		Atlas-SNP	.											.	SLC35B1	21	.	0			c.G141A						.						239.0	189.0	206.0					17																	47784394		2203	4300	6503	SO:0001819	synonymous_variant	10237	exon2			GAACGTCTCCTGC	D16978	CCDS11552.1, CCDS11552.2	17q21.32	2013-05-22			ENSG00000121073	ENSG00000121073		"""Solute carriers"""	20798	protein-coding gene	gene with protein product		610790				9010752	Standard	NM_005827		Approved	UGTREL1	uc002iph.1	P78383	OTTHUMG00000161638	ENST00000240333.6:c.141G>A	chr17.hg19:g.47784394C>T		51.0	0.0		68.0	31.0	NM_005827	B4DEC4|J3KQV4|Q96EW7	Silent	SNP	ENST00000240333.6	hg19	CCDS11552.1																																																																																			.	.		0.408	SLC35B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365564.2	NM_005827	
KLHL14	57565	hgsc.bcm.edu	37	18	30257147	30257147	+	Missense_Mutation	SNP	T	T	C			TCGA-QA-A7B7-01A-11D-A32G-10	TCGA-QA-A7B7-10A-01D-A32G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5e551b27-70d1-46fd-9a37-83d2cecac02d	6f59797f-d0a5-43b4-ae29-7f21022909d2	g.chr18:30257147T>C	ENST00000359358.4	-	8	2173	c.1735A>G	c.(1735-1737)Agc>Ggc	p.S579G		NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	579						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						ATACTCCAGCTGTAGCCTCCC	0.463																																					p.S579G		Atlas-SNP	.											.	KLHL14	92	.	0			c.A1735G						.						215.0	179.0	191.0					18																	30257147		2203	4300	6503	SO:0001583	missense	57565	exon8			TCCAGCTGTAGCC	AB037805	CCDS32813.1	18q12.1	2013-10-15	2013-01-30		ENSG00000197705	ENSG00000197705		"""Kelch-like"", ""BTB/POZ domain containing"""	29266	protein-coding gene	gene with protein product	"""printor"""	613772	"""kelch-like 14 (Drosophila)"""			10718198, 19535332	Standard	NM_020805		Approved	KIAA1384	uc002kxm.1	Q9P2G3	OTTHUMG00000179819	ENST00000359358.4:c.1735A>G	chr18.hg19:g.30257147T>C	ENSP00000352314:p.Ser579Gly	103.0	0.0		142.0	61.0	NM_020805	A6NNW1|B4DHA0|Q8WU41	Missense_Mutation	SNP	ENST00000359358.4	hg19	CCDS32813.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.798844	0.90538	.	.	ENSG00000197705	ENST00000359358	T	0.78707	-1.2	5.73	5.73	0.89815	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.82277	0.5002	L	0.28608	0.87	0.80722	D	1	D	0.53885	0.963	D	0.69824	0.966	D	0.84332	0.0522	10	0.72032	D	0.01	.	16.3197	0.82945	0.0:0.0:0.0:1.0	.	579	Q9P2G3	KLH14_HUMAN	G	579	ENSP00000352314:S579G	ENSP00000352314:S579G	S	-	1	0	KLHL14	28511145	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.648000	0.83479	2.302000	0.77476	0.533000	0.62120	AGC	.	.		0.463	KLHL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448376.1		
KCNG2	26251	hgsc.bcm.edu	37	18	77623988	77623988	+	Nonsense_Mutation	SNP	C	C	A			TCGA-QA-A7B7-01A-11D-A32G-10	TCGA-QA-A7B7-10A-01D-A32G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5e551b27-70d1-46fd-9a37-83d2cecac02d	6f59797f-d0a5-43b4-ae29-7f21022909d2	g.chr18:77623988C>A	ENST00000316249.3	+	1	321	c.321C>A	c.(319-321)taC>taA	p.Y107*		NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	107					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		AGCTGGCCTACTGGGGCATCG	0.786																																					p.Y107X		Atlas-SNP	.											.	KCNG2	48	.	0			c.C321A						.						5.0	5.0	5.0					18																	77623988		1971	3882	5853	SO:0001587	stop_gained	26251	exon1			GGCCTACTGGGGC	AJ011021	CCDS12019.1	18q23	2011-07-05			ENSG00000178342	ENSG00000178342		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6249	protein-coding gene	gene with protein product		605696				10551266, 16382104	Standard	NM_012283		Approved	Kv6.2, KCNF2	uc010xfl.2	Q9UJ96	OTTHUMG00000044541	ENST00000316249.3:c.321C>A	chr18.hg19:g.77623988C>A	ENSP00000315654:p.Tyr107*	13.0	0.0		16.0	14.0	NM_012283		Nonsense_Mutation	SNP	ENST00000316249.3	hg19	CCDS12019.1	.	.	.	.	.	.	.	.	.	.	C	37	6.037401	0.97226	.	.	ENSG00000178342	ENST00000316249	.	.	.	3.77	1.89	0.25635	.	0.000000	0.64402	U	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.3085	0.32058	0.0:0.728:0.0:0.272	.	.	.	.	X	107	.	ENSP00000315654:Y107X	Y	+	3	2	KCNG2	75724976	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.797000	0.38804	0.585000	0.29608	0.478000	0.44815	TAC	.	.		0.786	KCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103906.1	NM_012283	
DPP9	91039	hgsc.bcm.edu	37	19	4695540	4695540	+	Silent	SNP	G	G	T			TCGA-QA-A7B7-01A-11D-A32G-10	TCGA-QA-A7B7-10A-01D-A32G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5e551b27-70d1-46fd-9a37-83d2cecac02d	6f59797f-d0a5-43b4-ae29-7f21022909d2	g.chr19:4695540G>T	ENST00000598800.1	-	13	1621	c.1116C>A	c.(1114-1116)ccC>ccA	p.P372P	DPP9_ENST00000262960.9_Silent_p.P401P|DPP9_ENST00000594671.1_Silent_p.P372P|DPP9_ENST00000597849.1_Silent_p.P401P			Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9	372						cytoplasm (GO:0005737)|membrane (GO:0016020)	aminopeptidase activity (GO:0004177)|identical protein binding (GO:0042802)|serine-type peptidase activity (GO:0008236)			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		GCCACTGCTGGGGCCGGTCCA	0.657																																					p.P401P		Atlas-SNP	.											.	DPP9	59	.	0			c.C1203A						.						8.0	10.0	9.0					19																	4695540		1989	4151	6140	SO:0001819	synonymous_variant	91039	exon12			CTGCTGGGGCCGG	AF452102	CCDS45928.1	19p13.3	2014-06-11	2006-01-12		ENSG00000142002	ENSG00000142002			18648	protein-coding gene	gene with protein product		608258	"""dipeptidylpeptidase 9"""				Standard	NM_139159		Approved		uc002mba.3	Q86TI2	OTTHUMG00000182040	ENST00000598800.1:c.1116C>A	chr19.hg19:g.4695540G>T		42.0	0.0		76.0	5.0	NM_139159	O75273|O75868|Q1ZZB8|Q6AI37|Q6UAL0|Q6ZMT2|Q6ZNJ5|Q8N2J7|Q8N3F5|Q8WXD8|Q96NT8|Q9BVR3	Silent	SNP	ENST00000598800.1	hg19																																																																																				.	.		0.657	DPP9-026	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000459343.2		
ZNF708	7562	hgsc.bcm.edu	37	19	21476555	21476555	+	Missense_Mutation	SNP	A	A	C			TCGA-QA-A7B7-01A-11D-A32G-10	TCGA-QA-A7B7-10A-01D-A32G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5e551b27-70d1-46fd-9a37-83d2cecac02d	6f59797f-d0a5-43b4-ae29-7f21022909d2	g.chr19:21476555A>C	ENST00000356929.3	-	4	1410	c.1213T>G	c.(1213-1215)Tca>Gca	p.S405A		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	341					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						GTAAGAGTTGAGGACTTGGTA	0.358																																					p.S405A		Atlas-SNP	.											.	ZNF708	66	.	0			c.T1213G						.						62.0	66.0	65.0					19																	21476555		2199	4297	6496	SO:0001583	missense	7562	exon4			GAGTTGAGGACTT	X52339	CCDS32980.1	19p12	2014-02-14	2006-08-22	2005-08-16	ENSG00000182141	ENSG00000182141		"""Zinc fingers, C2H2-type"", ""-"""	12945	protein-coding gene	gene with protein product			"""zinc finger protein 15-like 1 (KOX 8)"", ""zinc finger protein 708"", ""zinc finger protein 708 (KOX8)"""	ZNF15, ZNF15L1		2014798	Standard	NM_021269		Approved	KOX8	uc002npq.1	P17019	OTTHUMG00000182841	ENST00000356929.3:c.1213T>G	chr19.hg19:g.21476555A>C	ENSP00000349401:p.Ser405Ala	68.0	0.0		62.0	18.0	NM_021269	Q6ZMR0	Missense_Mutation	SNP	ENST00000356929.3	hg19	CCDS32980.1	.	.	.	.	.	.	.	.	.	.	.	6.100	0.386725	0.11524	.	.	ENSG00000182141	ENST00000356929	T	0.35605	1.3	1.05	-0.848	0.10727	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.33118	0.0852	L	0.55213	1.73	0.09310	N	1	P	0.45474	0.859	P	0.45610	0.487	T	0.24297	-1.0164	9	0.54805	T	0.06	.	4.4652	0.11685	0.548:0.0:0.0:0.4519	.	405	P17019	ZN708_HUMAN	A	405	ENSP00000349401:S405A	ENSP00000349401:S405A	S	-	1	0	ZNF708	21268395	0.001000	0.12720	0.013000	0.15412	0.013000	0.08279	0.357000	0.20199	0.408000	0.25621	0.397000	0.26171	TCA	.	.		0.358	ZNF708-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463953.1	NM_021269	
LRP3	4037	hgsc.bcm.edu	37	19	33696163	33696163	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QA-A7B7-01A-11D-A32G-10	TCGA-QA-A7B7-10A-01D-A32G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5e551b27-70d1-46fd-9a37-83d2cecac02d	6f59797f-d0a5-43b4-ae29-7f21022909d2	g.chr19:33696163C>T	ENST00000253193.7	+	5	689	c.487C>T	c.(487-489)Cag>Tag	p.Q163*	CTD-2540B15.13_ENST00000609744.1_RNA	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	163					receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					GAAGCTGGGCCAGGCATCCTG	0.662																																					p.Q163X		Atlas-SNP	.											.	LRP3	46	.	0			c.C487T						.						15.0	14.0	14.0					19																	33696163		2202	4298	6500	SO:0001587	stop_gained	4037	exon5			CTGGGCCAGGCAT	AB009462	CCDS12430.1	19q13.11	2013-05-30			ENSG00000130881	ENSG00000130881		"""Low density lipoprotein receptors"""	6695	protein-coding gene	gene with protein product		603159				9693042, 7959795	Standard	NM_002333		Approved	LRP-3, hLRp105	uc010edh.3	O75074	OTTHUMG00000180343	ENST00000253193.7:c.487C>T	chr19.hg19:g.33696163C>T	ENSP00000253193:p.Gln163*	27.0	0.0		38.0	20.0	NM_002333	B3KQD6|B4DKF2	Nonsense_Mutation	SNP	ENST00000253193.7	hg19	CCDS12430.1	.	.	.	.	.	.	.	.	.	.	C	33	5.242988	0.95272	.	.	ENSG00000130881	ENST00000431491;ENST00000253193	.	.	.	4.02	4.02	0.46733	.	0.075315	0.56097	D	0.000032	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	-16.0617	15.328	0.74182	0.0:1.0:0.0:0.0	.	.	.	.	X	37;163	.	ENSP00000253193:Q163X	Q	+	1	0	LRP3	38388003	1.000000	0.71417	0.994000	0.49952	0.806000	0.45545	3.541000	0.53618	2.100000	0.63781	0.462000	0.41574	CAG	.	.		0.662	LRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450842.4		
KIAA0355	9710	hgsc.bcm.edu	37	19	34839933	34839933	+	Silent	SNP	C	C	T	rs150651317		TCGA-QA-A7B7-01A-11D-A32G-10	TCGA-QA-A7B7-10A-01D-A32G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5e551b27-70d1-46fd-9a37-83d2cecac02d	6f59797f-d0a5-43b4-ae29-7f21022909d2	g.chr19:34839933C>T	ENST00000299505.6	+	12	3573	c.2700C>T	c.(2698-2700)caC>caT	p.H900H	AC010504.2_ENST00000591311.1_RNA	NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	900										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					ATGGCCTGCACGGTGGCTGGT	0.632																																					p.H900H		Atlas-SNP	.											.	KIAA0355	105	.	0			c.C2700T						.	C		1,4405	2.1+/-5.4	0,1,2202	78.0	70.0	73.0		2700	-0.5	0.0	19	dbSNP_134	73	0,8600		0,0,4300	no	coding-synonymous	KIAA0355	NM_014686.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		900/1071	34839933	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9710	exon12			CCTGCACGGTGGC		CCDS12436.1	19q13.12	2012-11-29			ENSG00000166398	ENSG00000166398			29016	protein-coding gene	gene with protein product						9205841	Standard	NM_014686		Approved		uc002nvd.4	O15063	OTTHUMG00000180505	ENST00000299505.6:c.2700C>T	chr19.hg19:g.34839933C>T		61.0	0.0		75.0	35.0	NM_014686	Q2M3W4	Silent	SNP	ENST00000299505.6	hg19	CCDS12436.1																																																																																			.	C|1.000;T|0.000		0.632	KIAA0355-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451678.4	NM_014686	
LRRC4B	94030	hgsc.bcm.edu	37	19	51021678	51021678	+	Missense_Mutation	SNP	G	G	A			TCGA-QA-A7B7-01A-11D-A32G-10	TCGA-QA-A7B7-10A-01D-A32G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5e551b27-70d1-46fd-9a37-83d2cecac02d	6f59797f-d0a5-43b4-ae29-7f21022909d2	g.chr19:51021678G>A	ENST00000599957.1	-	3	1489	c.1292C>T	c.(1291-1293)aCg>aTg	p.T431M	LRRC4B_ENST00000389201.3_Missense_Mutation_p.T431M			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	431	Ig-like C2-type.				positive regulation of synapse assembly (GO:0051965)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GTACTGGCCCGTGTCCTGCAC	0.677																																					p.T431M		Atlas-SNP	.											LRRC4B,NS,carcinoma,0,1	LRRC4B	89	.	0			c.C1292T						.						61.0	69.0	66.0					19																	51021678		2191	4271	6462	SO:0001583	missense	94030	exon3			TGGCCCGTGTCCT	BC032460	CCDS42595.1	19q13.33	2014-01-30	2004-06-14	2004-06-16	ENSG00000131409	ENSG00000131409		"""Immunoglobulin superfamily / I-set domain containing"", ""Endogenous ligands"""	25042	protein-coding gene	gene with protein product	"""netrin-G3 ligand"""		"""leucine-rich repeats and immunoglobulin-like domains 4"""	LRIG4		11441184	Standard	NM_001080457		Approved	DKFZp761A179, HSM	uc002pss.3	Q9NT99		ENST00000599957.1:c.1292C>T	chr19.hg19:g.51021678G>A	ENSP00000471502:p.Thr431Met	47.0	0.0		49.0	23.0	NM_001080457	Q3ZCQ4|Q58F20	Missense_Mutation	SNP	ENST00000599957.1	hg19	CCDS42595.1	.	.	.	.	.	.	.	.	.	.	G	18.97	3.735436	0.69189	.	.	ENSG00000131409	ENST00000389201	T	0.28895	1.59	3.45	3.45	0.39498	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	U	0.000001	T	0.31857	0.0810	N	0.04686	-0.185	0.54753	D	0.999985	D	0.89917	1.0	D	0.72075	0.976	T	0.42378	-0.9455	10	0.72032	D	0.01	.	12.7732	0.57434	0.0:0.0:1.0:0.0	.	431	Q9NT99	LRC4B_HUMAN	M	431	ENSP00000373853:T431M	ENSP00000373853:T431M	T	-	2	0	LRRC4B	55713490	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.577000	0.98196	1.934000	0.56057	0.462000	0.41574	ACG	.	.		0.677	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464907.1	NM_001080457	
SHANK1	50944	hgsc.bcm.edu	37	19	51169904	51169904	+	Silent	SNP	G	G	T			TCGA-QA-A7B7-01A-11D-A32G-10	TCGA-QA-A7B7-10A-01D-A32G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5e551b27-70d1-46fd-9a37-83d2cecac02d	6f59797f-d0a5-43b4-ae29-7f21022909d2	g.chr19:51169904G>T	ENST00000293441.1	-	22	5331	c.5313C>A	c.(5311-5313)ggC>ggA	p.G1771G	SHANK1_ENST00000359082.3_Silent_p.G1762G|SHANK1_ENST00000391814.1_Silent_p.G1779G|SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000391813.1_Silent_p.G1158G	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	1771					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CCCCGCTGGGGCCAGGCCGCA	0.706																																					p.G1771G		Atlas-SNP	.											.	SHANK1	210	.	0			c.C5313A						.						4.0	6.0	5.0					19																	51169904		1834	3755	5589	SO:0001819	synonymous_variant	50944	exon22			GCTGGGGCCAGGC	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.5313C>A	chr19.hg19:g.51169904G>T		41.0	0.0		27.0	12.0	NM_016148	A8MXP5|B7WNY6|Q9NYW9	Silent	SNP	ENST00000293441.1	hg19	CCDS12799.1																																																																																			.	.		0.706	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148	
PLCB1	23236	hgsc.bcm.edu	37	20	8113326	8113326	+	Missense_Mutation	SNP	G	G	T	rs150241349		TCGA-QA-A7B7-01A-11D-A32G-10	TCGA-QA-A7B7-10A-01D-A32G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5e551b27-70d1-46fd-9a37-83d2cecac02d	6f59797f-d0a5-43b4-ae29-7f21022909d2	g.chr20:8113326G>T	ENST00000338037.6	+	1	55	c.28G>T	c.(28-30)Gcc>Tcc	p.A10S	PLCB1_ENST00000378641.3_Missense_Mutation_p.A10S|PLCB1_ENST00000378637.2_Missense_Mutation_p.A10S	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	10				MAGAQPGVHALQLKPVCVSDSLKKGTKFVKWDDD -> MGS LQGIATKILIRILSDALIRKETDLKS (in Ref. 2; AAF86613). {ECO:0000305}.	activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						CGGAGTGCACGCCTTGCAACT	0.697																																					p.A10S		Atlas-SNP	.											.	PLCB1	394	.	0			c.G28T						.		SER/ALA,SER/ALA	0,4406		0,0,2203	40.0	33.0	35.0		28,28	4.8	1.0	20	dbSNP_134	35	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	PLCB1	NM_015192.2,NM_182734.1	99,99	0,3,6500	TT,TG,GG		0.0349,0.0,0.0231	benign,benign	10/1217,10/1174	8113326	3,13003	2203	4300	6503	SO:0001583	missense	23236	exon1			GTGCACGCCTTGC	AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.28G>T	chr20.hg19:g.8113326G>T	ENSP00000338185:p.Ala10Ser	131.0	0.0		111.0	55.0	NM_015192	D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	ENST00000338037.6	hg19	CCDS13102.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.085057	0.76642	0.0	3.49E-4	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000404098	T;T;T;T	0.46063	2.2;2.19;2.2;0.88	4.82	4.82	0.62117	.	0.188937	0.34555	N	0.003873	T	0.57184	0.2036	L	0.43923	1.385	0.49483	D	0.999799	P;D;D	0.89917	0.823;1.0;0.998	B;D;D	0.87578	0.219;0.998;0.995	T	0.53287	-0.8460	10	0.33940	T	0.23	.	17.8576	0.88771	0.0:0.0:1.0:0.0	.	10;10;9	Q9NQ66;Q9NQ66-2;B1AK73	PLCB1_HUMAN;.;.	S	10;10;10;9	ENSP00000367908:A10S;ENSP00000338185:A10S;ENSP00000367904:A10S;ENSP00000384001:A9S	ENSP00000338185:A10S	A	+	1	0	PLCB1	8061326	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.182000	0.89698	2.378000	0.81104	0.558000	0.71614	GCC	.	G|1.000;T|0.000		0.697	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3		
EVA1C	59271	hgsc.bcm.edu	37	21	33887198	33887198	+	Missense_Mutation	SNP	G	G	T			TCGA-QA-A7B7-01A-11D-A32G-10	TCGA-QA-A7B7-10A-01D-A32G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5e551b27-70d1-46fd-9a37-83d2cecac02d	6f59797f-d0a5-43b4-ae29-7f21022909d2	g.chr21:33887198G>T	ENST00000300255.2	+	8	1497	c.1024G>T	c.(1024-1026)Gtc>Ttc	p.V342F	EVA1C_ENST00000382699.3_Missense_Mutation_p.V339F|EVA1C_ENST00000401402.3_Missense_Mutation_p.V294F|EVA1C_ENST00000485488.1_3'UTR	NM_058187.3	NP_478067.2	P58658	EVA1C_HUMAN	eva-1 homolog C (C. elegans)	342						integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)										GTGCGCCCTGGTCATCAGAGA	0.622																																					p.V342F		Atlas-SNP	.											.	.	.	.	0			c.G1024T						.						56.0	54.0	55.0					21																	33887198		2203	4300	6503	SO:0001583	missense	59271	exon8			GCCCTGGTCATCA	AF358258	CCDS13614.1, CCDS68186.1	21q22.11	2012-11-05	2012-11-05	2012-11-05	ENSG00000166979	ENSG00000166979			13239	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 64"", ""chromosome 21 open reading frame 63"", ""family with sequence similarity 176, member C"""	C21orf64, C21orf63, FAM176C		11707072, 19470522	Standard	NM_058187		Approved	B18, PRED34, B19	uc002ypr.1	P58658	OTTHUMG00000064922	ENST00000300255.2:c.1024G>T	chr21.hg19:g.33887198G>T	ENSP00000300255:p.Val342Phe	44.0	0.0		54.0	33.0	NM_058187	A6ND58|Q8IXZ0	Missense_Mutation	SNP	ENST00000300255.2	hg19	CCDS13614.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.973029	0.74246	.	.	ENSG00000166979	ENST00000300255;ENST00000401402;ENST00000382699	T;T;T	0.59772	0.24;0.24;0.24	5.75	5.75	0.90469	.	0.124635	0.56097	D	0.000031	T	0.80864	0.4705	M	0.87456	2.885	0.50813	D	0.999896	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.983	T	0.82948	-0.0204	10	0.66056	D	0.02	-9.0884	19.9428	0.97171	0.0:0.0:1.0:0.0	.	339;342	A6ND58;P58658	.;CU063_HUMAN	F	342;294;339	ENSP00000300255:V342F;ENSP00000384594:V294F;ENSP00000372146:V339F	ENSP00000300255:V342F	V	+	1	0	C21orf63	32809069	1.000000	0.71417	0.988000	0.46212	0.616000	0.37450	6.902000	0.75699	2.704000	0.92352	0.655000	0.94253	GTC	.	.		0.622	EVA1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139403.1	NM_058187	
PDE9A	5152	hgsc.bcm.edu	37	21	44117597	44117597	+	Intron	SNP	C	C	T			TCGA-QA-A7B7-01A-11D-A32G-10	TCGA-QA-A7B7-10A-01D-A32G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5e551b27-70d1-46fd-9a37-83d2cecac02d	6f59797f-d0a5-43b4-ae29-7f21022909d2	g.chr21:44117597C>T	ENST00000291539.6	+	4	278				PDE9A_ENST00000398232.3_Intron|PDE9A_ENST00000398225.3_Intron|PDE9A_ENST00000398224.3_Intron|PDE9A_ENST00000398227.3_Intron|PDE9A_ENST00000380328.2_Silent_p.H97H|PDE9A_ENST00000539837.1_Intron|PDE9A_ENST00000335512.4_Intron|PDE9A_ENST00000328862.6_Intron|PDE9A_ENST00000349112.3_Intron|PDE9A_ENST00000335440.6_Intron|PDE9A_ENST00000398234.3_Intron|PDE9A_ENST00000398236.3_Intron|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000398229.3_Intron	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A						blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|metabolic process (GO:0008152)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Caffeine(DB00201)	GGGCGTCCCACCAGGTGAATA	0.418																																					p.H97H		Atlas-SNP	.											.	PDE9A	69	.	0			c.C291T						.						283.0	245.0	258.0					21																	44117597		2203	4300	6503	SO:0001627	intron_variant	5152	exon4			GTCCCACCAGGTG	AF048837	CCDS13690.1, CCDS33567.1, CCDS33568.1, CCDS33569.1, CCDS33570.1, CCDS33571.1, CCDS42941.1, CCDS42942.1, CCDS42943.1, CCDS42944.1, CCDS42945.1, CCDS42946.1, CCDS42947.1	21q22.3	2005-11-29			ENSG00000160191	ENSG00000160191	3.1.4.17	"""Phosphodiesterases"""	8795	protein-coding gene	gene with protein product		602973				9624146	Standard	NM_001001584		Approved		uc002zbm.3	O76083	OTTHUMG00000086825	ENST00000291539.6:c.219-1481C>T	chr21.hg19:g.44117597C>T		199.0	0.0		249.0	68.0	NM_001001570	B2RBI5|B4DFI5|D3DSJ8|D3DSJ9|O75490|O75491|O95225|Q53Y40|Q5QD39|Q86SF7|Q86SI6|Q86SJ3|Q86WN3|Q86WN4|Q86WN5|Q86WN6|Q86WN7|Q86WN8|Q86WN9|Q86WP0	Silent	SNP	ENST00000291539.6	hg19	CCDS13690.1																																																																																			.	.		0.418	PDE9A-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195466.1		
AR	367	hgsc.bcm.edu	37	X	66765176	66765176	+	Missense_Mutation	SNP	A	A	T	rs62636527		TCGA-QA-A7B7-01A-11D-A32G-10	TCGA-QA-A7B7-10A-01D-A32G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5e551b27-70d1-46fd-9a37-83d2cecac02d	6f59797f-d0a5-43b4-ae29-7f21022909d2	g.chrX:66765176A>T	ENST00000374690.3	+	1	712	c.188A>T	c.(187-189)cAg>cTg	p.Q63L	AR_ENST00000396044.3_Missense_Mutation_p.Q63L|AR_ENST00000504326.1_Missense_Mutation_p.Q63L|AR_ENST00000513847.1_3'UTR	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	63	Gln-rich.|Modulating.|Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	cagcagcagcagcagcagcag	0.672									Androgen Insensitivity Syndrome																												p.Q63L		Atlas-SNP	.											.	AR	249	.	0			c.A188T						.						5.0	8.0	7.0					X																	66765176		1640	3236	4876	SO:0001583	missense	367	exon1	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	AGCAGCAGCAGCA	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"""Nuclear hormone receptors"""	644	protein-coding gene	gene with protein product	"""testicular feminization"", ""Kennedy disease"""	313700	"""dihydrotestosterone receptor"", ""spinal and bulbar muscular atrophy"""	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.188A>T	chrX.hg19:g.66765176A>T	ENSP00000363822:p.Gln63Leu	19.0	0.0		39.0	8.0	NM_000044	A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	ENST00000374690.3	hg19	CCDS14387.1	.	.	.	.	.	.	.	.	.	.	a	11.08	1.532203	0.27387	.	.	ENSG00000169083	ENST00000374690;ENST00000504326;ENST00000396044;ENST00000538891	T;T;T	0.78246	-1.16;-1.16;-1.16	.	.	.	.	0.479323	0.15343	U	0.267412	T	0.62624	0.2443	N	0.19112	0.55	0.09310	N	0.999992	P;D;.	0.58268	0.755;0.982;.	B;P;.	0.48627	0.089;0.584;.	T	0.56408	-0.7984	8	0.17832	T	0.49	.	.	.	.	rs62636527	63;63;61	E7EVX6;D3YPQ2;P10275	.;.;ANDR_HUMAN	L	63	ENSP00000363822:Q63L;ENSP00000421155:Q63L;ENSP00000379359:Q63L	ENSP00000363822:Q63L	Q	+	2	0	AR	66681901	0.810000	0.29049	0.871000	0.34182	0.555000	0.35460	1.078000	0.30754	0.000000	0.14550	0.000000	0.15137	CAG	.	A|0.982;T|0.018		0.672	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044	
AR	367	hgsc.bcm.edu	37	X	66765179	66765179	+	Missense_Mutation	SNP	A	A	T			TCGA-QA-A7B7-01A-11D-A32G-10	TCGA-QA-A7B7-10A-01D-A32G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5e551b27-70d1-46fd-9a37-83d2cecac02d	6f59797f-d0a5-43b4-ae29-7f21022909d2	g.chrX:66765179A>T	ENST00000374690.3	+	1	715	c.191A>T	c.(190-192)cAg>cTg	p.Q64L	AR_ENST00000396044.3_Missense_Mutation_p.Q64L|AR_ENST00000504326.1_Missense_Mutation_p.Q64L|AR_ENST00000513847.1_3'UTR	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	64	Gln-rich.|Modulating.|Poly-Gln.		Q -> R (in prostate cancer).		androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	cagcagcagcagcagcagcag	0.677									Androgen Insensitivity Syndrome																												p.Q64L		Atlas-SNP	.											.	AR	249	.	0			c.A191T						.						4.0	8.0	7.0					X																	66765179		1590	3143	4733	SO:0001583	missense	367	exon1	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	AGCAGCAGCAGCA	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"""Nuclear hormone receptors"""	644	protein-coding gene	gene with protein product	"""testicular feminization"", ""Kennedy disease"""	313700	"""dihydrotestosterone receptor"", ""spinal and bulbar muscular atrophy"""	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.191A>T	chrX.hg19:g.66765179A>T	ENSP00000363822:p.Gln64Leu	19.0	0.0		37.0	10.0	NM_000044	A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	ENST00000374690.3	hg19	CCDS14387.1	.	.	.	.	.	.	.	.	.	.	a	11.28	1.591655	0.28357	.	.	ENSG00000169083	ENST00000374690;ENST00000504326;ENST00000396044;ENST00000538891	T;T;T	0.67865	-0.29;-0.29;-0.29	.	.	.	.	1.847110	0.03494	N	0.217131	T	0.56124	0.1964	N	0.19112	0.55	0.09310	N	0.999991	P;D;.	0.58268	0.755;0.982;.	B;P;.	0.48627	0.089;0.584;.	T	0.50381	-0.8835	8	0.38643	T	0.18	.	.	.	.	.	64;64;62	E7EVX6;D3YPQ2;P10275	.;.;ANDR_HUMAN	L	64	ENSP00000363822:Q64L;ENSP00000421155:Q64L;ENSP00000379359:Q64L	ENSP00000363822:Q64L	Q	+	2	0	AR	66681904	0.024000	0.19004	0.883000	0.34634	0.574000	0.36063	-0.145000	0.10265	0.000000	0.14550	0.000000	0.15137	CAG	.	.		0.677	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044	
CSMD3	114788	hgsc.bcm.edu	37	8	113569140	113569140	+	Frame_Shift_Del	DEL	A	A	-			TCGA-QA-A7B7-01A-11D-A32G-10	TCGA-QA-A7B7-10A-01D-A32G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5e551b27-70d1-46fd-9a37-83d2cecac02d	6f59797f-d0a5-43b4-ae29-7f21022909d2	g.chr8:113569140delA	ENST00000297405.5	-	25	4330	c.4086delT	c.(4084-4086)tttfs	p.F1362fs	CSMD3_ENST00000352409.3_Frame_Shift_Del_p.F1362fs|CSMD3_ENST00000343508.3_Frame_Shift_Del_p.F1322fs|CSMD3_ENST00000455883.2_Frame_Shift_Del_p.F1258fs	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1362	Sushi 7. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCTTGTATCCAAATTGTGGAA	0.413										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																											p.G1363fs		Atlas-INDEL	.											CSMD3_ENST00000343508,NS,carcinoma,0,2	CSMD3	2325	.	0			c.4087delG						.						90.0	83.0	85.0					8																	113569140		2203	4299	6502	SO:0001589	frameshift_variant	114788	exon25			.	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.4086delT	chr8.hg19:g.113569140delA	ENSP00000297405:p.Phe1362fs	65.0	0.0		20.0	11.0	NM_198123	Q96PZ3	Frame_Shift_Del	DEL	ENST00000297405.5	hg19	CCDS6315.1																																																																																			.	.		0.413	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	
PTEN	5728	hgsc.bcm.edu	37	10	89720726	89720726	+	Frame_Shift_Del	DEL	G	G	-			TCGA-QA-A7B7-01A-11D-A32G-10	TCGA-QA-A7B7-10A-01D-A32G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5e551b27-70d1-46fd-9a37-83d2cecac02d	6f59797f-d0a5-43b4-ae29-7f21022909d2	g.chr10:89720726delG	ENST00000371953.3	+	8	2234	c.877delG	c.(877-879)ggafs	p.G293fs	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	293	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.W274_F341del(1)|p.G293*(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AGTAGAAAATGGAAGTCTATG	0.313		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																											p.N292fs		Atlas-Indel,Pindel	.	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	.	PTEN	3652	.	51	Whole gene deletion(37)|Deletion - Frameshift(9)|Deletion - In frame(2)|Unknown(2)|Substitution - Nonsense(1)	prostate(16)|central_nervous_system(12)|skin(6)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|urinary_tract(2)|soft_tissue(1)|endometrium(1)	c.876delT						.						72.0	74.0	73.0					10																	89720726		2203	4298	6501	SO:0001589	frameshift_variant	5728	exon8	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.877delG	chr10.hg19:g.89720726delG	ENSP00000361021:p.Gly293fs	132.0	0.0		94.0	72.0	NM_000314	B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Del	DEL	ENST00000371953.3	hg19	CCDS31238.1																																																																																			.	.		0.313	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
C3	718	hgsc.bcm.edu	37	19	6714044	6714046	+	In_Frame_Del	DEL	GTA	GTA	-			TCGA-QA-A7B7-01A-11D-A32G-10	TCGA-QA-A7B7-10A-01D-A32G-10	GTA	GTA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5e551b27-70d1-46fd-9a37-83d2cecac02d	6f59797f-d0a5-43b4-ae29-7f21022909d2	g.chr19:6714044_6714046delGTA	ENST00000245907.6	-	7	822_824	c.730_732delTAC	c.(730-732)tacdel	p.Y244del		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	244					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	CGTTATAGATGTAGTAGAATTTC	0.616																																					p.244_245del		Atlas-Indel,Pindel	.											.	C3	192	.	0			c.731_733del						.																																			SO:0001651	inframe_deletion	718	exon7			.	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.730_732delTAC	chr19.hg19:g.6714047_6714049delGTA	ENSP00000245907:p.Tyr244del	33.0	0.0		41.0	16.0	NM_000064	A7E236	In_Frame_Del	DEL	ENST00000245907.6	hg19	CCDS32883.1																																																																																			.	.		0.616	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064	
ADAMTS12	81792	hgsc.bcm.edu	37	5	33881413	33881415	+	In_Frame_Del	DEL	CTT	CTT	-	rs141295692	byFrequency	TCGA-QA-A7B7-01A-11D-A32G-10	TCGA-QA-A7B7-10A-01D-A32G-10	CTT	CTT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5e551b27-70d1-46fd-9a37-83d2cecac02d	6f59797f-d0a5-43b4-ae29-7f21022909d2	g.chr5:33881413_33881415delCTT	ENST00000504830.1	-	2	633_635	c.298_300delAAG	c.(298-300)aagdel	p.K100del	ADAMTS12_ENST00000352040.3_In_Frame_Del_p.K100del|ADAMTS12_ENST00000515401.1_In_Frame_Del_p.K100del	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	100					cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						AAAACAGGTCCTTCTCCTCGTGA	0.443										HNSCC(64;0.19)																											p.100_101del		Pindel	.											ADAMTS12_ENST00000515401,caecum,carcinoma,0,2	ADAMTS12	464	.	0			c.299_301del						.																																			SO:0001651	inframe_deletion	81792	exon2			.	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.298_300delAAG	chr5.hg19:g.33881413_33881415delCTT	ENSP00000422554:p.Lys100del	100.0	0.0		112.0	32.0	NM_030955	A2RRN9|A5D6V6|Q6UWL3	In_Frame_Del	DEL	ENST00000504830.1	hg19	CCDS34140.1																																																																																			.	.		0.443	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955	
KRTAP10-7	386675	hgsc.bcm.edu	37	21	46021011	46021012	+	In_Frame_Ins	INS	-	-	TCTGCTGCGTGCCCA	rs7283052		TCGA-QA-A7B7-01A-11D-A32G-10	TCGA-QA-A7B7-10A-01D-A32G-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5e551b27-70d1-46fd-9a37-83d2cecac02d	6f59797f-d0a5-43b4-ae29-7f21022909d2	g.chr21:46021011_46021012insTCTGCTGCGTGCCCA	ENST00000380102.2	+	1	515_516	c.490_491insTCTGCTGCGTGCCCA	c.(490-492)atc>aTCTGCTGCGTGCCCAtc	p.164_164I>ICCVPI	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	164	30 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.I164V(1)		breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						CTGTGTGCCCATCTGCTGCAAG	0.614																																					p.I159delinsICCVPI		Pindel	.											KRTAP10-7,trunk,malignant_melanoma,0,1	KRTAP10-7	41	.	1	Substitution - Missense(1)	skin(1)	c.475_476insTCTGCTGCGTGCCCA						.																																			SO:0001652	inframe_insertion	386675	exon2			.	AJ566385	CCDS74803.1	21q22.3	2014-04-10			ENSG00000205441	ENSG00000272804		"""Keratin associated proteins"""	22970	protein-coding gene	gene with protein product				KRTAP18-7			Standard	NM_198689		Approved	KAP10.7, KAP18.7	uc002zfn.4	P60409	OTTHUMG00000188307	Exception_encountered	chr21.hg19:g.46021011_46021012insTCTGCTGCGTGCCCA	ENSP00000369445:p.CysCysValProIle164dup	84.0	0.0		107.0	13.0	NM_198689	Q0VDJ8|Q70LJ2	In_Frame_Ins	INS	ENST00000380102.2	hg19																																																																																				.	.		0.614	KRTAP10-7-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000128038.1	NM_198689	
CSMD3	114788	hgsc.bcm.edu	37	8	113569077	113569140	+	Frame_Shift_Del	DEL	TGGATTGCATCCATAAATGATGGTGCTACCAGCAAAGTGGCCTTGGTCACTGATCTTGTATCCA	TGGATTGCATCCATAAATGATGGTGCTACCAGCAAAGTGGCCTTGGTCACTGATCTTGTATCCA	-	rs145750770|rs201327971|rs202053990|rs143731892	byFrequency	TCGA-QA-A7B7-01A-11D-A32G-10	TCGA-QA-A7B7-10A-01D-A32G-10	TGGATTGCATCCATAAATGATGGTGCTACCAGCAAAGTGGCCTTGGTCACTGATCTTGTATCCA	TGGATTGCATCCATAAATGATGGTGCTACCAGCAAAGTGGCCTTGGTCACTGATCTTGTATCCA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5e551b27-70d1-46fd-9a37-83d2cecac02d	6f59797f-d0a5-43b4-ae29-7f21022909d2	g.chr8:113569077_113569140delTGGATTGCATCCATAAATGATGGTGCTACCAGCAAAGTGGCCTTGGTCACTGATCTTGTATCCA	ENST00000297405.5	-	25	4330_4393	c.4086_4149delTGGATACAAGATCAGTGACCAAGGCCACTTTGCTGGTAGCACCATCATTTATGGATGCAATCCA	c.(4084-4149)tttggatacaagatcagtgaccaaggccactttgctggtagcaccatcatttatggatgcaatccafs	p.FGYKISDQGHFAGSTIIYGCNP1362fs	CSMD3_ENST00000352409.3_Frame_Shift_Del_p.FGYKISDQGHFAGSTIIYGCNP1362fs|CSMD3_ENST00000343508.3_Frame_Shift_Del_p.FGYKISDQGHFAGSTIIYGCNP1322fs|CSMD3_ENST00000455883.2_Frame_Shift_Del_p.FGYKISDQGHFAGSTIIYGCNP1258fs	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1362	Sushi 7. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Q1369H(2)|p.Q1329H(2)|p.G1380*(1)|p.G1323*(1)|p.G1363*(1)|p.C1341F(1)|p.S1367C(1)|p.C1381F(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GAGTGTAGCCTGGATTGCATCCATAAATGATGGTGCTACCAGCAAAGTGGCCTTGGTCACTGATCTTGTATCCAAATTGTGGAA	0.436										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																											p.1363_1384del		Pindel	.											.	CSMD3	2325	.	10	Substitution - Missense(7)|Substitution - Nonsense(3)	lung(8)|upper_aerodigestive_tract(1)|ovary(1)	c.4087_4150del						.																																			SO:0001589	frameshift_variant	114788	exon25			.	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.4086_4149delTGGATACAAGATCAGTGACCAAGGCCACTTTGCTGGTAGCACCATCATTTATGGATGCAATCCA	chr8.hg19:g.113569077_113569140delTGGATTGCATCCATAAATGATGGTGCTACCAGCAAAGTGGCCTTGGTCACTGATCTTGTATCCA	ENSP00000297405:p.Phe1362fs	68.0	0.0		18.0	15.0	NM_198123	Q96PZ3	Frame_Shift_Del	DEL	ENST00000297405.5	hg19	CCDS6315.1																																																																																			.	.		0.436	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	
