#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
NRD1	4898	hgsc.bcm.edu	37	1	52306079	52306079	+	Missense_Mutation	SNP	T	T	A	rs62648104		TCGA-CC-A1HT-01A-11D-A12Z-10	TCGA-CC-A1HT-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6b25a78f-20dc-4ccc-b4c0-f9885d16725d	0255f601-3be9-4059-9d36-7f666977eff0	g.chr1:52306079T>A	ENST00000354831.7	-	2	638	c.449A>T	c.(448-450)gAg>gTg	p.E150V	NRD1_ENST00000539524.1_Missense_Mutation_p.E18V|NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000544028.1_Missense_Mutation_p.E18V|NRD1_ENST00000352171.7_Missense_Mutation_p.E150V	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	0	Asp/Glu-rich (highly acidic).|Poly-Glu.				cell migration (GO:0016477)|cell proliferation (GO:0008283)|neuromuscular junction development (GO:0007528)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)	cell surface (GO:0009986)|cytosol (GO:0005829)	epidermal growth factor binding (GO:0048408)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						ttcttcttcctccacctcctc	0.378																																					p.E150V		Atlas-SNP	.											.	NRD1	89	.	0			c.A449T						.						163.0	138.0	146.0					1																	52306079		2203	4300	6503	SO:0001583	missense	4898	exon2			TCTTCCTCCACCT	X93207	CCDS559.1, CCDS41335.1, CCDS55599.1	1p32.2-p32.1	2008-07-18			ENSG00000078618	ENSG00000078618			7995	protein-coding gene	gene with protein product		602651				9581555, 9479496	Standard	NM_002525		Approved	hNRD1, hNRD2	uc001ctc.4	O43847	OTTHUMG00000008278	ENST00000354831.7:c.449A>T	chr1.hg19:g.52306079T>A	ENSP00000346890:p.Glu150Val	311.0	0.0		314.0	44.0	NM_001101662	A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Missense_Mutation	SNP	ENST00000354831.7	hg19	CCDS559.1	.	.	.	.	.	.	.	.	.	.	T	3.056	-0.194350	0.06259	.	.	ENSG00000078618	ENST00000352171;ENST00000354831;ENST00000539524;ENST00000546169;ENST00000544028	T;T;T;T	0.38240	1.31;3.15;1.15;1.22	5.25	2.92	0.33932	Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.525899	0.19688	N	0.108344	T	0.18341	0.0440	N	0.14661	0.345	0.09310	N	1	B;B;B	0.23650	0.062;0.089;0.01	B;B;B	0.17098	0.017;0.007;0.007	T	0.14755	-1.0461	10	0.38643	T	0.18	-0.0317	5.1939	0.15225	0.0:0.1704:0.2022:0.6274	rs62648104	150;150;150	F5H6R2;O43847;B1AKJ5	.;NRDC_HUMAN;.	V	150;150;18;150;18	ENSP00000262679:E150V;ENSP00000346890:E150V;ENSP00000444416:E18V;ENSP00000442262:E18V	ENSP00000262679:E150V	E	-	2	0	NRD1	52078667	0.129000	0.22400	0.012000	0.15200	0.145000	0.21501	0.870000	0.28010	0.317000	0.23160	0.454000	0.30748	GAG	.	T|0.024;A|0.976		0.378	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023045.1	NM_002525	
SEMA6C	10500	hgsc.bcm.edu	37	1	151108527	151108527	+	Missense_Mutation	SNP	G	G	T			TCGA-CC-A1HT-01A-11D-A12Z-10	TCGA-CC-A1HT-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6b25a78f-20dc-4ccc-b4c0-f9885d16725d	0255f601-3be9-4059-9d36-7f666977eff0	g.chr1:151108527G>T	ENST00000341697.3	-	13	2910	c.1219C>A	c.(1219-1221)Cca>Aca	p.P407T				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	407	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GTGACAGGTGGTACAGCGGGG	0.572																																					p.P407T		Atlas-SNP	.											.	SEMA6C	70	.	0			c.C1219A						.						128.0	120.0	123.0					1																	151108527		2203	4300	6503	SO:0001583	missense	10500	exon13			CAGGTGGTACAGC	AF339154	CCDS984.1, CCDS53363.1, CCDS53364.1	1q21.2	2008-02-05			ENSG00000143434	ENSG00000143434		"""Semaphorins"""	10740	protein-coding gene	gene with protein product	"""m-Sema Y2"""	609294				12110693	Standard	NM_030913		Approved	KIAA1869	uc001ewv.3	Q9H3T2	OTTHUMG00000012261	ENST00000341697.3:c.1219C>A	chr1.hg19:g.151108527G>T	ENSP00000344148:p.Pro407Thr	284.0	0.0		452.0	170.0	NM_001178061	D3DV15|Q5JR71|Q5JR72|Q5JR73|Q8WXT8|Q8WXT9|Q8WXU0|Q96JF8	Missense_Mutation	SNP	ENST00000341697.3	hg19	CCDS984.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.658586	0.67586	.	.	ENSG00000143434	ENST00000368914;ENST00000368912;ENST00000368913;ENST00000341697	T;T;T;T	0.10005	2.92;2.92;2.92;2.92	5.35	5.35	0.76521	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.056339	0.64402	D	0.000001	T	0.24160	0.0585	M	0.68593	2.085	0.47308	D	0.999387	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.996;0.998;0.999	T	0.00533	-1.1685	10	0.59425	D	0.04	.	16.5625	0.84570	0.0:0.0:1.0:0.0	.	407;367;407;407	B4DZD4;Q9H3T2-2;Q9H3T2-3;Q9H3T2	.;.;.;SEM6C_HUMAN	T	407;367;407;407	ENSP00000357910:P407T;ENSP00000357908:P367T;ENSP00000357909:P407T;ENSP00000344148:P407T	ENSP00000344148:P407T	P	-	1	0	SEMA6C	149375151	1.000000	0.71417	1.000000	0.80357	0.720000	0.41350	3.325000	0.52030	2.526000	0.85167	0.561000	0.74099	CCA	.	.		0.572	SEMA6C-004	KNOWN	alternative_5_UTR|mRNA_start_NF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034074.1	NM_030913	
SPTA1	6708	hgsc.bcm.edu	37	1	158623173	158623173	+	Missense_Mutation	SNP	G	G	T			TCGA-CC-A1HT-01A-11D-A12Z-10	TCGA-CC-A1HT-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6b25a78f-20dc-4ccc-b4c0-f9885d16725d	0255f601-3be9-4059-9d36-7f666977eff0	g.chr1:158623173G>T	ENST00000368147.4	-	22	3259	c.3079C>A	c.(3079-3081)Cca>Aca	p.P1027T		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1027	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TAGACAGCTGGGACAATGCCC	0.552																																					p.P1027T		Atlas-SNP	.											.	SPTA1	720	.	0			c.C3079A						.						90.0	93.0	92.0					1																	158623173		2048	4175	6223	SO:0001583	missense	6708	exon22			CAGCTGGGACAAT	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.3079C>A	chr1.hg19:g.158623173G>T	ENSP00000357129:p.Pro1027Thr	201.0	0.0		232.0	97.0	NM_003126	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	hg19	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	18.06	3.540463	0.65085	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	D;D	0.90504	-2.68;-2.68	5.15	5.15	0.70609	Src homology-3 domain (4);Spectrin alpha chain, SH3 domain (1);	0.000000	0.31976	N	0.006762	D	0.97043	0.9034	H	0.97758	4.07	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.97467	1.0038	10	0.54805	T	0.06	.	17.367	0.87367	0.0:0.0:1.0:0.0	.	1027	P02549	SPTA1_HUMAN	T	1027	ENSP00000357130:P1027T;ENSP00000357129:P1027T	ENSP00000357129:P1027T	P	-	1	0	SPTA1	156889797	1.000000	0.71417	1.000000	0.80357	0.188000	0.23474	8.882000	0.92420	2.692000	0.91855	0.655000	0.94253	CCA	.	.		0.552	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126	
HMCN1	83872	hgsc.bcm.edu	37	1	185970862	185970862	+	Missense_Mutation	SNP	T	T	A			TCGA-CC-A1HT-01A-11D-A12Z-10	TCGA-CC-A1HT-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6b25a78f-20dc-4ccc-b4c0-f9885d16725d	0255f601-3be9-4059-9d36-7f666977eff0	g.chr1:185970862T>A	ENST00000271588.4	+	28	4566	c.4337T>A	c.(4336-4338)aTt>aAt	p.I1446N	HMCN1_ENST00000367492.2_Missense_Mutation_p.I1446N	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1446	Ig-like C2-type 11.				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						TACTTTAACATTGATGTGCTA	0.353																																					p.I1446N		Atlas-SNP	.											.	HMCN1	797	.	0			c.T4337A						.						49.0	52.0	51.0					1																	185970862		2203	4298	6501	SO:0001583	missense	83872	exon28			TTAACATTGATGT	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.4337T>A	chr1.hg19:g.185970862T>A	ENSP00000271588:p.Ile1446Asn	234.0	0.0		189.0	46.0	NM_031935	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	hg19	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.429619	0.83776	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.78816	-1.21;-1.21	5.82	5.82	0.92795	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.370573	0.29868	N	0.010988	D	0.86752	0.6008	M	0.77486	2.375	0.23487	N	0.997577	D	0.60160	0.987	P	0.60173	0.87	T	0.81756	-0.0787	10	0.87932	D	0	.	16.1839	0.81934	0.0:0.0:0.0:1.0	.	1446	Q96RW7	HMCN1_HUMAN	N	1446	ENSP00000271588:I1446N;ENSP00000356462:I1446N	ENSP00000271588:I1446N	I	+	2	0	HMCN1	184237485	0.972000	0.33761	0.708000	0.30435	0.982000	0.71751	7.344000	0.79328	2.222000	0.72286	0.533000	0.62120	ATT	.	.		0.353	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	
OR2B11	127623	hgsc.bcm.edu	37	1	247614391	247614391	+	Silent	SNP	A	A	G			TCGA-CC-A1HT-01A-11D-A12Z-10	TCGA-CC-A1HT-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6b25a78f-20dc-4ccc-b4c0-f9885d16725d	0255f601-3be9-4059-9d36-7f666977eff0	g.chr1:247614391A>G	ENST00000318749.6	-	1	917	c.894T>C	c.(892-894)aaT>aaC	p.N298N		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	298						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TCATATCTTTATTTCTCAGGG	0.473																																					p.N298N		Atlas-SNP	.											.	OR2B11	102	.	0			c.T894C						.						186.0	200.0	195.0					1																	247614391		2203	4300	6503	SO:0001819	synonymous_variant	127623	exon1			ATCTTTATTTCTC		CCDS31090.1	1q44	2012-08-09			ENSG00000177535	ENSG00000177535		"""GPCR / Class A : Olfactory receptors"""	31249	protein-coding gene	gene with protein product							Standard	NM_001004492		Approved		uc010pyx.2	Q5JQS5	OTTHUMG00000040572	ENST00000318749.6:c.894T>C	chr1.hg19:g.247614391A>G		202.0	0.0		186.0	28.0	NM_001004492	B2RP03	Silent	SNP	ENST00000318749.6	hg19	CCDS31090.1																																																																																			.	.		0.473	OR2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097620.1	NM_001004492	
ACP1	52	hgsc.bcm.edu	37	2	277013	277013	+	Silent	SNP	C	C	T			TCGA-CC-A1HT-01A-11D-A12Z-10	TCGA-CC-A1HT-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6b25a78f-20dc-4ccc-b4c0-f9885d16725d	0255f601-3be9-4059-9d36-7f666977eff0	g.chr2:277013C>T	ENST00000272065.5	+	5	420	c.327C>T	c.(325-327)acC>acT	p.T109T	ACP1_ENST00000484464.1_3'UTR|ACP1_ENST00000272067.6_Silent_p.T109T	NM_004300.3	NP_004291.1	P24666	PPAC_HUMAN	acid phosphatase 1, soluble	109						cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|extracellular vesicular exosome (GO:0070062)	acid phosphatase activity (GO:0003993)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00175)|Lung NSC(108;0.216)|all_epithelial(98;0.236)		all cancers(51;0.000391)|Epithelial(75;0.00281)|OV - Ovarian serous cystadenocarcinoma(76;0.00542)|GBM - Glioblastoma multiforme(21;0.127)	Adenine(DB00173)	AAGTTAAAACCTGCAAAGCTA	0.313																																					p.T109T		Atlas-SNP	.											.	ACP1	42	.	0			c.C327T						.						60.0	63.0	62.0					2																	277013		2201	4300	6501	SO:0001819	synonymous_variant	52	exon5			TAAAACCTGCAAA	M87546	CCDS1639.1, CCDS1640.1, CCDS46217.1	2p25	2011-06-09			ENSG00000143727	ENSG00000143727	3.1.3.2	"""Protein tyrosine phosphatases / Class II Cys-based PTPs"""	122	protein-coding gene	gene with protein product		171500					Standard	NM_001040649		Approved		uc002qwf.3	P24666	OTTHUMG00000086933	ENST00000272065.5:c.327C>T	chr2.hg19:g.277013C>T		277.0	0.0		241.0	39.0	NM_007099	A8K1L9|B5MCC7|P24667|Q16035|Q16036|Q16725|Q3KQX8|Q53RU0	Silent	SNP	ENST00000272065.5	hg19	CCDS1639.1																																																																																			.	.		0.313	ACP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195862.3		
MYT1L	23040	hgsc.bcm.edu	37	2	1812887	1812887	+	Missense_Mutation	SNP	C	C	T			TCGA-CC-A1HT-01A-11D-A12Z-10	TCGA-CC-A1HT-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6b25a78f-20dc-4ccc-b4c0-f9885d16725d	0255f601-3be9-4059-9d36-7f666977eff0	g.chr2:1812887C>T	ENST00000399161.2	-	22	3880	c.3133G>A	c.(3133-3135)Gga>Aga	p.G1045R	MYT1L_ENST00000428368.2_Missense_Mutation_p.G1043R|MYT1L_ENST00000407844.1_Missense_Mutation_p.G41R	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	1045					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		ATCTGCTCTCCAGAAAGCTTT	0.592																																					p.G1043R		Atlas-SNP	.											.	MYT1L	241	.	0			c.G3127A						.						116.0	123.0	121.0					2																	1812887		2147	4245	6392	SO:0001583	missense	23040	exon22			GCTCTCCAGAAAG	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.3133G>A	chr2.hg19:g.1812887C>T	ENSP00000382114:p.Gly1045Arg	197.0	0.0		170.0	26.0	NM_015025	A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	hg19		.	.	.	.	.	.	.	.	.	.	C	29.7	5.029396	0.93518	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000407844;ENST00000399157;ENST00000428368	T;T;T	0.48201	0.82;1.62;0.82	5.24	5.24	0.73138	.	0.108901	0.64402	D	0.000007	T	0.63189	0.2490	M	0.62723	1.935	0.80722	D	1	P;D;D	0.63880	0.587;0.988;0.993	B;P;P	0.57776	0.221;0.676;0.827	T	0.64202	-0.6463	10	0.49607	T	0.09	-16.9142	18.8228	0.92105	0.0:1.0:0.0:0.0	.	41;1045;1043	Q9UL68-3;Q9UL68;Q9UL68-4	.;MYT1L_HUMAN;.	R	1045;991;41;99;1043	ENSP00000382114:G1045R;ENSP00000382111:G99R;ENSP00000396103:G1043R	ENSP00000295067:G991R	G	-	1	0	MYT1L	1791894	1.000000	0.71417	0.837000	0.33122	0.967000	0.64934	4.754000	0.62191	2.439000	0.82584	0.655000	0.94253	GGA	.	.		0.592	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025	
TTC27	55622	hgsc.bcm.edu	37	2	32859027	32859027	+	Silent	SNP	C	C	T			TCGA-CC-A1HT-01A-11D-A12Z-10	TCGA-CC-A1HT-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6b25a78f-20dc-4ccc-b4c0-f9885d16725d	0255f601-3be9-4059-9d36-7f666977eff0	g.chr2:32859027C>T	ENST00000317907.4	+	3	582	c.351C>T	c.(349-351)caC>caT	p.H117H	MIR4765_ENST00000585007.1_RNA	NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	117										breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						TTGACTTACACCCTCAGGACT	0.363																																					p.H117H		Atlas-SNP	.											.	TTC27	71	.	0			c.C351T						.						130.0	128.0	128.0					2																	32859027		2203	4300	6503	SO:0001819	synonymous_variant	55622	exon3			CTTACACCCTCAG	BC063791, AK000279	CCDS33176.1	2p22.3	2013-01-10			ENSG00000018699	ENSG00000018699		"""Tetratricopeptide (TTC) repeat domain containing"""	25986	protein-coding gene	gene with protein product							Standard	NM_001193509		Approved	FLJ20272	uc002rom.3	Q6P3X3	OTTHUMG00000152134	ENST00000317907.4:c.351C>T	chr2.hg19:g.32859027C>T		456.0	0.0		461.0	74.0	NM_017735	A6NKJ0|Q96SS5|Q9BVF1|Q9NWR4|Q9NXG4	Silent	SNP	ENST00000317907.4	hg19	CCDS33176.1																																																																																			.	.		0.363	TTC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325395.1	NM_017735	
LRP1B	53353	hgsc.bcm.edu	37	2	141812802	141812802	+	Missense_Mutation	SNP	G	G	A	rs545142973		TCGA-CC-A1HT-01A-11D-A12Z-10	TCGA-CC-A1HT-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6b25a78f-20dc-4ccc-b4c0-f9885d16725d	0255f601-3be9-4059-9d36-7f666977eff0	g.chr2:141812802G>A	ENST00000389484.3	-	10	2406	c.1435C>T	c.(1435-1437)Cca>Tca	p.P479S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	479	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATTCCATATGGATCGACTTCA	0.433										TSP Lung(27;0.18)																											p.P479S	Colon(99;50 2074 2507 20106)	Atlas-SNP	.											.	LRP1B	1315	.	0			c.C1435T						.						100.0	89.0	93.0					2																	141812802		2203	4300	6503	SO:0001583	missense	53353	exon10			CATATGGATCGAC	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.1435C>T	chr2.hg19:g.141812802G>A	ENSP00000374135:p.Pro479Ser	167.0	0.0		167.0	22.0	NM_018557	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	hg19	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.118079	0.37339	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.89681	-2.55	5.45	4.56	0.56223	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);Epidermal growth factor-like (1);	0.370906	0.25349	U	0.031320	T	0.78253	0.4254	N	0.12746	0.255	0.25272	N	0.989504	B	0.06786	0.001	B	0.04013	0.001	T	0.56195	-0.8019	10	0.09084	T	0.74	.	15.8587	0.79005	0.0:0.1406:0.8594:0.0	.	479	Q9NZR2	LRP1B_HUMAN	S	479;417	ENSP00000374135:P479S	ENSP00000374135:P479S	P	-	1	0	LRP1B	141529272	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.527000	0.45615	1.268000	0.44264	0.557000	0.71058	CCA	.	.		0.433	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	
COBLL1	22837	hgsc.bcm.edu	37	2	165551580	165551580	+	Missense_Mutation	SNP	T	T	A			TCGA-CC-A1HT-01A-11D-A12Z-10	TCGA-CC-A1HT-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6b25a78f-20dc-4ccc-b4c0-f9885d16725d	0255f601-3be9-4059-9d36-7f666977eff0	g.chr2:165551580T>A	ENST00000392717.2	-	13	2554	c.2550A>T	c.(2548-2550)aaA>aaT	p.K850N	COBLL1_ENST00000194871.6_Missense_Mutation_p.K879N|COBLL1_ENST00000342193.4_Missense_Mutation_p.K812N|COBLL1_ENST00000375458.2_Missense_Mutation_p.K774N|COBLL1_ENST00000409184.3_Missense_Mutation_p.K812N			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	850						extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						TGGCAGTTTCTTTCACATTCT	0.423																																					p.K812N		Atlas-SNP	.											.	COBLL1	122	.	0			c.A2436T						.						147.0	145.0	146.0					2																	165551580		2203	4300	6503	SO:0001583	missense	22837	exon12			AGTTTCTTTCACA	AB023194	CCDS2223.2, CCDS63045.1	2q24.3	2012-12-07	2012-12-07		ENSG00000082438	ENSG00000082438			23571	protein-coding gene	gene with protein product		610318	"""COBL-like 1"""				Standard	NM_001278458		Approved	KIAA0977	uc002ucp.3	Q53SF7	OTTHUMG00000074019	ENST00000392717.2:c.2550A>T	chr2.hg19:g.165551580T>A	ENSP00000376478:p.Lys850Asn	396.0	0.0		324.0	60.0	NM_014900	A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Missense_Mutation	SNP	ENST00000392717.2	hg19		.	.	.	.	.	.	.	.	.	.	T	16.71	3.199731	0.58126	.	.	ENSG00000082438	ENST00000375458;ENST00000342193;ENST00000409184;ENST00000392717;ENST00000194871	.	.	.	6.04	1.36	0.22044	.	0.144833	0.48767	D	0.000166	T	0.48804	0.1520	L	0.46157	1.445	0.32112	N	0.589155	P;P;D	0.58268	0.893;0.948;0.982	P;P;P	0.58331	0.567;0.649;0.837	T	0.53620	-0.8413	9	0.32370	T	0.25	-10.6926	6.1571	0.20344	0.1249:0.1933:0.0:0.6817	.	850;879;812	Q53SF7;B7Z2P5;Q53SF7-2	COBL1_HUMAN;.;.	N	774;812;812;850;879	.	ENSP00000194871:K879N	K	-	3	2	COBLL1	165259826	0.158000	0.22850	0.990000	0.47175	0.986000	0.74619	-0.280000	0.08468	0.140000	0.18849	0.460000	0.39030	AAA	.	.		0.423	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014900	
TTN	7273	hgsc.bcm.edu	37	2	179395002	179395002	+	Missense_Mutation	SNP	G	G	C			TCGA-CC-A1HT-01A-11D-A12Z-10	TCGA-CC-A1HT-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6b25a78f-20dc-4ccc-b4c0-f9885d16725d	0255f601-3be9-4059-9d36-7f666977eff0	g.chr2:179395002G>C	ENST00000591111.1	-	308	101641	c.101417C>G	c.(101416-101418)cCc>cGc	p.P33806R	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592161.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P26382R|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P26574R|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000587576.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P26507R|TTN_ENST00000342992.6_Missense_Mutation_p.P32879R|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P35447R|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000442329.2_RNA			Q8WZ42	TITIN_HUMAN	titin	33806	Ig-like 149.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTTGGCCGGGGTTCTCCAGT	0.378																																					p.P35447R		Atlas-SNP	.											.	TTN	18412	.	0			c.C106340G						.						97.0	90.0	92.0					2																	179395002		1822	4080	5902	SO:0001583	missense	7273	exon358			GGCCGGGGTTCTC	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.101417C>G	chr2.hg19:g.179395002G>C	ENSP00000465570:p.Pro33806Arg	131.0	0.0		134.0	21.0	NM_001267550	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	hg19		.	.	.	.	.	.	.	.	.	.	G	8.740	0.918832	0.17982	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.74315	-0.83;-0.83;-0.83;-0.83	5.14	5.14	0.70334	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.89111	0.6622	H	0.96269	3.795	0.39327	D	0.965345	D;D;D;D	0.59767	0.986;0.986;0.986;0.986	P;P;P;P	0.61800	0.859;0.859;0.859;0.894	D	0.92802	0.6257	9	0.87932	D	0	.	14.1191	0.65175	0.0:0.0:1.0:0.0	.	26382;26507;26574;33806	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	R	32879;26382;26574;26507;26379	ENSP00000343764:P32879R;ENSP00000434586:P26382R;ENSP00000340554:P26574R;ENSP00000352154:P26507R	ENSP00000340554:P26574R	P	-	2	0	TTN	179103248	1.000000	0.71417	0.993000	0.49108	0.157000	0.22087	5.191000	0.65110	2.406000	0.81754	0.491000	0.48974	CCC	.	.		0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TNP1	7141	hgsc.bcm.edu	37	2	217724619	217724619	+	Splice_Site	SNP	C	C	A			TCGA-CC-A1HT-01A-11D-A12Z-10	TCGA-CC-A1HT-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6b25a78f-20dc-4ccc-b4c0-f9885d16725d	0255f601-3be9-4059-9d36-7f666977eff0	g.chr2:217724619C>A	ENST00000236979.2	-	1	168	c.139G>T	c.(139-141)Gcc>Tcc	p.A47S	AC007563.5_ENST00000607591.1_RNA|AC007563.5_ENST00000447289.1_RNA	NM_003284.3	NP_003275.1	P09430	STP1_HUMAN	transition protein 1 (during histone to protamine replacement)	47					chromatin remodeling (GO:0006338)|chromatin silencing (GO:0006342)|fertilization, exchange of chromosomal proteins (GO:0035042)|multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|sexual reproduction (GO:0019953)|single strand break repair (GO:0000012)|sperm motility (GO:0030317)|spermatid development (GO:0007286)|spermatid nucleus differentiation (GO:0007289)|spermatid nucleus elongation (GO:0007290)	male germ cell nucleus (GO:0001673)|nucleosome (GO:0000786)	DNA binding (GO:0003677)			large_intestine(1)|lung(1)|stomach(1)	3		Renal(207;0.0822)		Epithelial(149;8.97e-07)|all cancers(144;2.46e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTCACTCACCGTCATCGCCC	0.552																																					p.A47S		Atlas-SNP	.											.	TNP1	10	.	0			c.G139T						.						218.0	196.0	203.0					2																	217724619		2203	4300	6503	SO:0001630	splice_region_variant	7141	exon1			ACTCACCGTCATC		CCDS2406.1	2q35-q36	2008-06-03			ENSG00000118245	ENSG00000118245			11951	protein-coding gene	gene with protein product		190231				2249851	Standard	NM_003284		Approved		uc002vgk.3	P09430	OTTHUMG00000133057	ENST00000236979.2:c.139+1G>T	chr2.hg19:g.217724619C>A		221.0	0.0		226.0	37.0	NM_003284		Missense_Mutation	SNP	ENST00000236979.2	hg19	CCDS2406.1	.	.	.	.	.	.	.	.	.	.	C	11.69	1.714696	0.30413	.	.	ENSG00000118245	ENST00000236979	.	.	.	5.55	4.67	0.58626	.	0.123073	0.37437	N	0.002085	T	0.34221	0.0890	.	.	.	0.29839	N	0.829379	B	0.21225	0.053	B	0.25405	0.06	T	0.24512	-1.0158	7	.	.	.	-7.7748	11.7343	0.51757	0.1755:0.8245:0.0:0.0	.	47	P09430	STP1_HUMAN	S	47	.	.	A	-	1	0	TNP1	217432864	0.980000	0.34600	0.998000	0.56505	0.660000	0.38997	1.224000	0.32539	1.569000	0.49696	0.655000	0.94253	GCC	.	.		0.552	TNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256673.1	NM_003284	Missense_Mutation
PRRT3	285368	hgsc.bcm.edu	37	3	9991578	9991578	+	Silent	SNP	A	A	G			TCGA-CC-A1HT-01A-11D-A12Z-10	TCGA-CC-A1HT-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6b25a78f-20dc-4ccc-b4c0-f9885d16725d	0255f601-3be9-4059-9d36-7f666977eff0	g.chr3:9991578A>G	ENST00000412055.1	-	2	351	c.222T>C	c.(220-222)gaT>gaC	p.D74D	PRRT3_ENST00000411976.2_Silent_p.D74D|PRRT3-AS1_ENST00000431558.1_RNA	NM_207351.3	NP_997234.3	Q5FWE3	PRRT3_HUMAN	proline-rich transmembrane protein 3	74						integral component of membrane (GO:0016021)				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2)	13						CGTGGCGGACATCAGAGTTCC	0.627																																					p.D74D		Atlas-SNP	.											.	PRRT3	35	.	0			c.T222C						.						53.0	60.0	57.0					3																	9991578		2009	4178	6187	SO:0001819	synonymous_variant	285368	exon2			GCGGACATCAGAG	AK090993	CCDS43049.1	3p25.3	2011-10-10			ENSG00000163704	ENSG00000163704		"""Proline-rich transmembrane proteins"""	26591	protein-coding gene	gene with protein product							Standard	NM_207351		Approved	FLJ33674	uc003bul.2	Q5FWE3	OTTHUMG00000155285	ENST00000412055.1:c.222T>C	chr3.hg19:g.9991578A>G		90.0	0.0		120.0	25.0	NM_207351	Q49AD0|Q6UXY6|Q8NBC9	Silent	SNP	ENST00000412055.1	hg19	CCDS43049.1																																																																																			.	.		0.627	PRRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339322.1	NM_207351	
TCAIM	285343	hgsc.bcm.edu	37	3	44449032	44449032	+	Missense_Mutation	SNP	T	T	G			TCGA-CC-A1HT-01A-11D-A12Z-10	TCGA-CC-A1HT-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6b25a78f-20dc-4ccc-b4c0-f9885d16725d	0255f601-3be9-4059-9d36-7f666977eff0	g.chr3:44449032T>G	ENST00000342649.4	+	11	1776	c.1349T>G	c.(1348-1350)gTg>gGg	p.V450G	TCAIM_ENST00000417237.1_Missense_Mutation_p.V450G	NM_001282913.1|NM_173826.3	NP_001269842.1|NP_776187.2	Q8N3R3	TCAIM_HUMAN	T cell activation inhibitor, mitochondrial	450						mitochondrion (GO:0005739)											ATACAAATGGTGGATTGTTGT	0.358																																					p.V450G		Atlas-SNP	.											.	.	.	.	0			c.T1349G						.						103.0	106.0	105.0					3																	44449032		2203	4300	6503	SO:0001583	missense	285343	exon11			AAATGGTGGATTG		CCDS2712.1, CCDS43076.1	3p21.33-p21.32	2012-08-22	2012-08-22	2012-08-22	ENSG00000179152	ENSG00000179152			25241	protein-coding gene	gene with protein product	"""tolerance associated gene-1"""		"""chromosome 3 open reading frame 23"""	C3orf23		12477932	Standard	NM_001029840		Approved	DKFZp313N0621, TOAG-1	uc003cnd.4	Q8N3R3	OTTHUMG00000133049	ENST00000342649.4:c.1349T>G	chr3.hg19:g.44449032T>G	ENSP00000341539:p.Val450Gly	376.0	0.0		362.0	56.0	NM_173826	A8K9P1|Q0P5T9|Q495R1|Q495R3|Q4G0M4|Q6GMU8	Missense_Mutation	SNP	ENST00000342649.4	hg19	CCDS2712.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.212411	0.79240	.	.	ENSG00000179152	ENST00000417237;ENST00000342649	T;T	0.54279	0.58;0.58	6.07	1.07	0.20283	.	0.227073	0.42420	D	0.000718	T	0.42017	0.1184	L	0.36672	1.1	0.58432	D	0.999992	P	0.38078	0.617	B	0.39738	0.308	T	0.29882	-0.9997	10	0.87932	D	0	.	9.7349	0.40382	0.0:0.255:0.0:0.745	.	450	Q8N3R3	CC023_HUMAN	G	450	ENSP00000402581:V450G;ENSP00000341539:V450G	ENSP00000341539:V450G	V	+	2	0	C3orf23	44424036	1.000000	0.71417	0.878000	0.34440	0.990000	0.78478	3.661000	0.54503	-0.035000	0.13691	0.533000	0.62120	GTG	.	.		0.358	TCAIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256655.2	NM_173826	
PIK3CB	5291	hgsc.bcm.edu	37	3	138426053	138426053	+	Missense_Mutation	SNP	A	A	G			TCGA-CC-A1HT-01A-11D-A12Z-10	TCGA-CC-A1HT-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6b25a78f-20dc-4ccc-b4c0-f9885d16725d	0255f601-3be9-4059-9d36-7f666977eff0	g.chr3:138426053A>G	ENST00000477593.1	-	10	1551	c.1478T>C	c.(1477-1479)gTt>gCt	p.V493A	PIK3CB_ENST00000289153.2_Missense_Mutation_p.V493A|PIK3CB_ENST00000544716.1_Intron			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	493	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|embryonic cleavage (GO:0040016)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of autophagy (GO:0010508)|regulation of cell-matrix adhesion (GO:0001952)|regulation of clathrin-mediated endocytosis (GO:2000369)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41					Caffeine(DB00201)	TGGAAATTTAACATGCAAAGC	0.313																																					p.V493A		Atlas-SNP	.											.	PIK3CB	103	.	0			c.T1478C						.						107.0	106.0	106.0					3																	138426053		2203	4300	6503	SO:0001583	missense	5291	exon9			AATTTAACATGCA		CCDS3104.1	3q22.3	2013-09-19	2012-07-13		ENSG00000051382	ENSG00000051382	2.7.1.153		8976	protein-coding gene	gene with protein product		602925	"""phosphoinositide-3-kinase, catalytic, beta polypeptide"""	PIK3C1		8246984	Standard	NM_006219		Approved		uc011bmq.3	P42338	OTTHUMG00000159893	ENST00000477593.1:c.1478T>C	chr3.hg19:g.138426053A>G	ENSP00000418143:p.Val493Ala	256.0	0.0		265.0	34.0	NM_006219	D3DNF0|Q24JU2	Missense_Mutation	SNP	ENST00000477593.1	hg19	CCDS3104.1	.	.	.	.	.	.	.	.	.	.	A	12.41	1.930360	0.34096	.	.	ENSG00000051382	ENST00000477593;ENST00000289153	T;T	0.73789	-0.78;-0.78	5.84	4.67	0.58626	C2 calcium/lipid-binding domain, CaLB (1);	0.830341	0.11251	N	0.583632	T	0.73552	0.3601	L	0.52011	1.625	0.80722	D	1	B;B	0.29270	0.08;0.24	B;B	0.36092	0.142;0.217	T	0.68758	-0.5324	10	0.87932	D	0	-6.1165	11.9542	0.52973	0.932:0.0:0.068:0.0	.	493;97	P42338;B4DZI3	PK3CB_HUMAN;.	A	493	ENSP00000418143:V493A;ENSP00000289153:V493A	ENSP00000289153:V493A	V	-	2	0	PIK3CB	139908743	1.000000	0.71417	0.572000	0.28498	0.194000	0.23727	8.690000	0.91272	1.024000	0.39682	0.482000	0.46254	GTT	.	.		0.313	PIK3CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358019.1		
TRIM42	287015	hgsc.bcm.edu	37	3	140401304	140401304	+	Splice_Site	SNP	C	C	A			TCGA-CC-A1HT-01A-11D-A12Z-10	TCGA-CC-A1HT-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6b25a78f-20dc-4ccc-b4c0-f9885d16725d	0255f601-3be9-4059-9d36-7f666977eff0	g.chr3:140401304C>A	ENST00000286349.3	+	2	533	c.342C>A	c.(340-342)tcC>tcA	p.S114S		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	114						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CTCCTTTCAGCTCCAAGACTG	0.537																																					p.S114S		Atlas-SNP	.											.	TRIM42	143	.	0			c.C342A						.						62.0	64.0	63.0					3																	140401304		2203	4300	6503	SO:0001630	splice_region_variant	287015	exon2			TTTCAGCTCCAAG	AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"""Tripartite motif containing / Tripartite motif containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	19014	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 40"""		"""tripartite motif-containing 42"""				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.342-1C>A	chr3.hg19:g.140401304C>A		111.0	0.0		118.0	15.0	NM_152616	A1L4B4|Q8N832|Q8NDL3	Silent	SNP	ENST00000286349.3	hg19	CCDS3113.1																																																																																			.	.		0.537	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2	NM_152616	Silent
CP	1356	hgsc.bcm.edu	37	3	148923993	148923993	+	Missense_Mutation	SNP	T	T	C	rs201036476		TCGA-CC-A1HT-01A-11D-A12Z-10	TCGA-CC-A1HT-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6b25a78f-20dc-4ccc-b4c0-f9885d16725d	0255f601-3be9-4059-9d36-7f666977eff0	g.chr3:148923993T>C	ENST00000264613.6	-	6	1432	c.1170A>G	c.(1168-1170)atA>atG	p.I390M		NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	390	F5/8 type A 2.|Plastocyanin-like 3.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)	chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	TGAAGATGTCTATACCAGAGG	0.393																																					p.I390M		Atlas-SNP	.											.	CP	112	.	0			c.A1170G						.						124.0	124.0	124.0					3																	148923993		2203	4300	6503	SO:0001583	missense	1356	exon6			GATGTCTATACCA	M13536	CCDS3141.1	3q23-q25	2010-07-01			ENSG00000047457	ENSG00000047457	1.16.3.1		2295	protein-coding gene	gene with protein product		117700					Standard	NM_000096		Approved		uc003ewy.4	P00450	OTTHUMG00000159563	ENST00000264613.6:c.1170A>G	chr3.hg19:g.148923993T>C	ENSP00000264613:p.Ile390Met	267.0	0.0		253.0	62.0	NM_000096	Q14063|Q2PP18|Q9UKS4	Missense_Mutation	SNP	ENST00000264613.6	hg19	CCDS3141.1	.	.	.	.	.	.	.	.	.	.	T	2.831	-0.242725	0.05906	.	.	ENSG00000047457	ENST00000264613;ENST00000494544	D;D	0.98947	-5.26;-5.26	5.08	1.05	0.20165	Cupredoxin (2);	0.594800	0.17372	N	0.176645	D	0.94265	0.8158	L	0.31294	0.92	0.09310	N	0.999997	B;B;B;B	0.32245	0.2;0.2;0.2;0.361	B;B;B;B	0.28232	0.059;0.059;0.059;0.087	D	0.89158	0.3528	10	0.33940	T	0.23	-8.5659	2.7669	0.05322	0.1192:0.1462:0.1234:0.6113	.	390;390;390;390	A5PL27;A8K5A4;P00450;Q1L857	.;.;CERU_HUMAN;.	M	390;173	ENSP00000264613:I390M;ENSP00000420545:I173M	ENSP00000264613:I390M	I	-	3	3	CP	150406683	0.067000	0.21026	0.012000	0.15200	0.145000	0.21501	0.290000	0.18975	0.077000	0.16863	-0.316000	0.08728	ATA	.	T|0.999;C|0.001		0.393	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317498.1	NM_000096	
MME	4311	hgsc.bcm.edu	37	3	154890002	154890002	+	Splice_Site	SNP	G	G	T			TCGA-CC-A1HT-01A-11D-A12Z-10	TCGA-CC-A1HT-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6b25a78f-20dc-4ccc-b4c0-f9885d16725d	0255f601-3be9-4059-9d36-7f666977eff0	g.chr3:154890002G>T	ENST00000460393.1	+	21	2196		c.e21+1		MME-AS1_ENST00000484721.1_RNA|MME_ENST00000360490.2_Splice_Site|MME_ENST00000462745.1_Splice_Site|MME_ENST00000492661.1_Splice_Site|MME_ENST00000493237.1_Splice_Site	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase						angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	CTTTGCACAGGTATTGTGTCT	0.328																																					.		Atlas-SNP	.											.	MME	133	.	0			c.2076+1G>T						.						89.0	96.0	94.0					3																	154890002		2203	4298	6501	SO:0001630	splice_region_variant	4311	exon21			GCACAGGTATTGT		CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"""CD molecules"""	7154	protein-coding gene	gene with protein product	"""neutral endopeptidase"", ""enkephalinase"", ""neprilysin"""	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.2076+1G>T	chr3.hg19:g.154890002G>T		1098.0	0.0		827.0	132.0	NM_000902	A8K6U6|D3DNJ9|Q3MIX4	Splice_Site	SNP	ENST00000460393.1	hg19	CCDS3172.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.110435	0.77210	.	.	ENSG00000196549	ENST00000492661;ENST00000460393;ENST00000462745;ENST00000493237;ENST00000360490	.	.	.	5.43	5.43	0.79202	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2626	0.93974	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MME	156372696	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	9.666000	0.98612	2.544000	0.85801	0.585000	0.79938	.	.	.		0.328	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351076.1	NM_000902	Intron
EIF4G1	1981	hgsc.bcm.edu	37	3	184045645	184045645	+	Missense_Mutation	SNP	G	G	A			TCGA-CC-A1HT-01A-11D-A12Z-10	TCGA-CC-A1HT-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6b25a78f-20dc-4ccc-b4c0-f9885d16725d	0255f601-3be9-4059-9d36-7f666977eff0	g.chr3:184045645G>A	ENST00000346169.2	+	26	4079	c.3808G>A	c.(3808-3810)Gcc>Acc	p.A1270T	EIF4G1_ENST00000435046.2_Missense_Mutation_p.A1074T|EIF4G1_ENST00000427845.1_Missense_Mutation_p.A1184T|EIF4G1_ENST00000424196.1_Missense_Mutation_p.A1277T|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000392537.2_Missense_Mutation_p.A1183T|EIF4G1_ENST00000350481.5_Missense_Mutation_p.A1106T|EIF4G1_ENST00000434061.2_Missense_Mutation_p.A1075T|EIF4G1_ENST00000342981.4_Missense_Mutation_p.A1271T|EIF4G1_ENST00000352767.3_Missense_Mutation_p.A1277T|EIF4G1_ENST00000382330.3_Missense_Mutation_p.A1277T|EIF4G1_ENST00000411531.1_Missense_Mutation_p.A1231T|SNORD66_ENST00000390856.1_RNA|EIF4G1_ENST00000319274.6_Missense_Mutation_p.A1270T|EIF4G1_ENST00000414031.1_Missense_Mutation_p.A1230T|EIF4G1_ENST00000441154.1_Missense_Mutation_p.A1107T	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1270	MI. {ECO:0000255|PROSITE- ProRule:PRU00698}.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCAGGAGCTGGCCTCACCCTC	0.617																																					p.A1277T		Atlas-SNP	.											.	EIF4G1	151	.	0			c.G3829A						.						88.0	74.0	79.0					3																	184045645		2203	4300	6503	SO:0001583	missense	1981	exon27			GAGCTGGCCTCAC	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.3808G>A	chr3.hg19:g.184045645G>A	ENSP00000316879:p.Ala1270Thr	106.0	0.0		109.0	33.0	NM_001194946	D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	ENST00000346169.2	hg19	CCDS3259.1	.	.	.	.	.	.	.	.	.	.	G	19.92	3.916641	0.73098	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000382330;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000441154;ENST00000434061;ENST00000435046	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55	6.17	4.37	0.52481	Initiation factor eIF-4 gamma, MA3 (3);Armadillo-type fold (1);	0.221143	0.47852	D	0.000219	T	0.24392	0.0591	L	0.40543	1.245	0.30116	N	0.806153	P;P;P	0.40931	0.733;0.733;0.733	B;B;B	0.43052	0.406;0.406;0.406	T	0.09357	-1.0678	10	0.16420	T	0.52	-5.3456	6.6418	0.22913	0.1259:0.0:0.6099:0.2642	.	1277;1271;1270	E9PFM1;D3DNT2;Q04637	.;.;IF4G1_HUMAN	T	1270;1230;1183;1277;1106;1277;1184;1271;1270;1277;1231;1107;1075;1074	ENSP00000316879:A1270T;ENSP00000391935:A1230T;ENSP00000376320:A1183T;ENSP00000371767:A1277T;ENSP00000317600:A1106T;ENSP00000338020:A1277T;ENSP00000407682:A1184T;ENSP00000343450:A1271T;ENSP00000323737:A1270T;ENSP00000416255:A1277T;ENSP00000395974:A1231T;ENSP00000399858:A1107T;ENSP00000411826:A1075T;ENSP00000404754:A1074T	ENSP00000323737:A1270T	A	+	1	0	EIF4G1	185528339	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	3.505000	0.53356	0.923000	0.37045	-0.169000	0.13324	GCC	.	.		0.617	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917	
EPHA5	2044	hgsc.bcm.edu	37	4	66361224	66361224	+	Silent	SNP	G	G	A			TCGA-CC-A1HT-01A-11D-A12Z-10	TCGA-CC-A1HT-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6b25a78f-20dc-4ccc-b4c0-f9885d16725d	0255f601-3be9-4059-9d36-7f666977eff0	g.chr4:66361224G>A	ENST00000273854.3	-	4	1548	c.948C>T	c.(946-948)atC>atT	p.I316I	EPHA5_ENST00000511294.1_Silent_p.I316I|EPHA5_ENST00000432638.2_Intron|EPHA5_ENST00000354839.4_Silent_p.I316I	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	316	Cys-rich.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CGCAGCTCTGGATGTGAGGTG	0.448										TSP Lung(17;0.13)																											p.I316I		Atlas-SNP	.											.	EPHA5	315	.	0			c.C948T						.						130.0	131.0	131.0					4																	66361224		2203	4300	6503	SO:0001819	synonymous_variant	2044	exon4			GCTCTGGATGTGA	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.948C>T	chr4.hg19:g.66361224G>A		216.0	0.0		208.0	37.0	NM_004439	Q7Z3F2	Silent	SNP	ENST00000273854.3	hg19	CCDS3513.1																																																																																			.	.		0.448	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439	
MUC7	4589	hgsc.bcm.edu	37	4	71346814	71346814	+	Missense_Mutation	SNP	C	C	T			TCGA-CC-A1HT-01A-11D-A12Z-10	TCGA-CC-A1HT-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6b25a78f-20dc-4ccc-b4c0-f9885d16725d	0255f601-3be9-4059-9d36-7f666977eff0	g.chr4:71346814C>T	ENST00000304887.5	+	3	543	c.353C>T	c.(352-354)tCa>tTa	p.S118L	MUC7_ENST00000456088.1_Missense_Mutation_p.S118L|MUC7_ENST00000413702.1_Missense_Mutation_p.S118L|MUC7_ENST00000514512.1_3'UTR	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	118	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ACTTTCCCATCAGCTTCCACC	0.428																																					p.S118L		Atlas-SNP	.											.	MUC7	91	.	0			c.C353T						.						122.0	115.0	118.0					4																	71346814		2203	4300	6503	SO:0001583	missense	4589	exon4			TCCCATCAGCTTC	BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"""Mucins"""	7518	protein-coding gene	gene with protein product		158375	"""mucin 7, salivary"""			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.353C>T	chr4.hg19:g.71346814C>T	ENSP00000302021:p.Ser118Leu	171.0	0.0		160.0	31.0	NM_001145007	Q9UCD7|Q9UCD8	Missense_Mutation	SNP	ENST00000304887.5	hg19	CCDS3541.1	.	.	.	.	.	.	.	.	.	.	C	11.66	1.704882	0.30232	.	.	ENSG00000171195	ENST00000413702;ENST00000505411;ENST00000456088;ENST00000304887	T;T;T;T	0.54479	0.58;0.57;0.58;0.58	3.44	2.57	0.30868	.	.	.	.	.	T	0.52256	0.1723	N	0.24115	0.695	0.09310	N	1	D	0.65815	0.995	P	0.61003	0.882	T	0.39035	-0.9633	9	0.37606	T	0.19	-2.6315	10.1996	0.43075	0.2007:0.7993:0.0:0.0	.	118	Q8TAX7	MUC7_HUMAN	L	118	ENSP00000407422:S118L;ENSP00000427594:S118L;ENSP00000400585:S118L;ENSP00000302021:S118L	ENSP00000302021:S118L	S	+	2	0	MUC7	71381403	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	1.245000	0.32790	0.991000	0.38814	-0.181000	0.13052	TCA	.	.		0.428	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291	
FRAS1	80144	hgsc.bcm.edu	37	4	79328918	79328918	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CC-A1HT-01A-11D-A12Z-10	TCGA-CC-A1HT-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6b25a78f-20dc-4ccc-b4c0-f9885d16725d	0255f601-3be9-4059-9d36-7f666977eff0	g.chr4:79328918C>T	ENST00000325942.6	+	31	4671	c.4231C>T	c.(4231-4233)Cag>Tag	p.Q1411*	FRAS1_ENST00000264895.6_Nonsense_Mutation_p.Q1411*	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	1411					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CACCTTCACCCAGCAGGACAT	0.582																																					p.Q1411X		Atlas-SNP	.											.	FRAS1	779	.	0			c.C4231T						.						77.0	84.0	82.0					4																	79328918		2123	4238	6361	SO:0001587	stop_gained	80144	exon31			TTCACCCAGCAGG	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.4231C>T	chr4.hg19:g.79328918C>T	ENSP00000326330:p.Gln1411*	162.0	0.0		207.0	27.0	NM_001166133	A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Nonsense_Mutation	SNP	ENST00000325942.6	hg19	CCDS54772.1	.	.	.	.	.	.	.	.	.	.	C	47	13.622374	0.99753	.	.	ENSG00000138759	ENST00000325942;ENST00000264895	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	18.7528	0.91821	0.0:1.0:0.0:0.0	.	.	.	.	X	1411	.	ENSP00000264895:Q1411X	Q	+	1	0	FRAS1	79547942	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.264000	0.78432	2.671000	0.90904	0.585000	0.79938	CAG	.	.		0.582	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2		
FRAS1	80144	hgsc.bcm.edu	37	4	79455713	79455713	+	Missense_Mutation	SNP	C	C	T			TCGA-CC-A1HT-01A-11D-A12Z-10	TCGA-CC-A1HT-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6b25a78f-20dc-4ccc-b4c0-f9885d16725d	0255f601-3be9-4059-9d36-7f666977eff0	g.chr4:79455713C>T	ENST00000264895.6	+	71	11476	c.11036C>T	c.(11035-11037)cCc>cTc	p.P3679L		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	3675					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CTAATGGATCCCAATACATCT	0.453																																					p.P3679L		Atlas-SNP	.											.	FRAS1	779	.	0			c.C11036T						.						131.0	118.0	122.0					4																	79455713		1896	4124	6020	SO:0001583	missense	80144	exon71			TGGATCCCAATAC	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.11036C>T	chr4.hg19:g.79455713C>T	ENSP00000264895:p.Pro3679Leu	133.0	0.0		133.0	20.0	NM_025074	A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000264895.6	hg19	CCDS54771.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.401489	0.83120	.	.	ENSG00000138759	ENST00000264895	T	0.14516	2.5	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.39332	0.1074	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.28106	-1.0054	10	0.87932	D	0	.	18.4025	0.90522	0.0:1.0:0.0:0.0	.	3679	E9PHH6	.	L	3679	ENSP00000264895:P3679L	ENSP00000264895:P3679L	P	+	2	0	FRAS1	79674737	1.000000	0.71417	1.000000	0.80357	0.808000	0.45660	7.667000	0.83888	2.336000	0.79503	0.591000	0.81541	CCC	.	.		0.453	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
BANK1	55024	hgsc.bcm.edu	37	4	102712095	102712095	+	Missense_Mutation	SNP	C	C	T			TCGA-CC-A1HT-01A-11D-A12Z-10	TCGA-CC-A1HT-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6b25a78f-20dc-4ccc-b4c0-f9885d16725d	0255f601-3be9-4059-9d36-7f666977eff0	g.chr4:102712095C>T	ENST00000322953.4	+	1	332	c.58C>T	c.(58-60)Cca>Tca	p.P20S	BANK1_ENST00000508653.1_Missense_Mutation_p.P20S|BANK1_ENST00000504592.1_Intron|BANK1_ENST00000428908.1_Missense_Mutation_p.P20S	NM_017935.4	NP_060405	Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	20	Interaction with ITPR2.				B cell activation (GO:0042113)					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		CCCCTGCGGCCCAGCGCCCCC	0.726																																					p.P20S		Atlas-SNP	.											.	BANK1	95	.	0			c.C58T						.						2.0	3.0	3.0					4																	102712095		1668	3561	5229	SO:0001583	missense	55024	exon1			TGCGGCCCAGCGC	AB063170	CCDS34038.1, CCDS47115.1, CCDS47116.1	4q23	2013-01-11						"""Ankyrin repeat domain containing"""	18233	protein-coding gene	gene with protein product		610292				11782428, 21208380, 21480188	Standard	NM_017935		Approved	BANK, FLJ20706	uc003hvy.4	Q8NDB2		ENST00000322953.4:c.58C>T	chr4.hg19:g.102712095C>T	ENSP00000320509:p.Pro20Ser	4.0	0.0		22.0	13.0	NM_001127507	A8K7W8|B0F3S2|Q8N5K8|Q8NB56|Q8WYN5|Q9NWP2	Missense_Mutation	SNP	ENST00000322953.4	hg19	CCDS34038.1	.	.	.	.	.	.	.	.	.	.	C	10.21	1.287454	0.23478	.	.	ENSG00000153064	ENST00000322953;ENST00000428908;ENST00000508653	T;T;T	0.48201	0.82;1.35;1.35	3.43	2.59	0.31030	.	0.400535	0.18627	N	0.135696	T	0.29914	0.0748	N	0.24115	0.695	0.21740	N	0.999568	B;B	0.22909	0.077;0.077	B;B	0.22152	0.038;0.021	T	0.15292	-1.0442	10	0.41790	T	0.15	.	6.645	0.22931	0.0:0.8703:0.0:0.1297	.	20;20	Q8NDB2-4;Q8NDB2	.;BANK1_HUMAN	S	20	ENSP00000320509:P20S;ENSP00000412748:P20S;ENSP00000422314:P20S	ENSP00000320509:P20S	P	+	1	0	BANK1	102931118	0.002000	0.14202	0.716000	0.30569	0.619000	0.37552	1.155000	0.31700	1.015000	0.39444	0.591000	0.81541	CCA	.	.		0.726	BANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363161.1	NM_017935	
TACR3	6870	hgsc.bcm.edu	37	4	104640417	104640417	+	Missense_Mutation	SNP	G	G	T			TCGA-CC-A1HT-01A-11D-A12Z-10	TCGA-CC-A1HT-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6b25a78f-20dc-4ccc-b4c0-f9885d16725d	0255f601-3be9-4059-9d36-7f666977eff0	g.chr4:104640417G>T	ENST00000304883.2	-	1	556	c.416C>A	c.(415-417)aCg>aAg	p.T139K		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	139					aging (GO:0007568)|hyperosmotic salinity response (GO:0042538)|positive regulation of blood pressure (GO:0045777)|positive regulation of heart rate (GO:0010460)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of dopamine metabolic process (GO:0042053)|regulation of feeding behavior (GO:0060259)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to morphine (GO:0043278)|tachykinin receptor signaling pathway (GO:0007217)	cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	tachykinin receptor activity (GO:0004995)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		ATTGACCAACGTGTTGAAGGC	0.537																																					p.T139K		Atlas-SNP	.											.	TACR3	102	.	0			c.C416A						.						110.0	100.0	104.0					4																	104640417		2203	4300	6503	SO:0001583	missense	6870	exon1			ACCAACGTGTTGA	M89473	CCDS3664.1	4q25	2012-08-08			ENSG00000169836	ENSG00000169836		"""GPCR / Class A : Tachykinin receptors"""	11528	protein-coding gene	gene with protein product	"""neurokinin beta receptor"""	162332				1374246	Standard	NM_001059		Approved	NK3R	uc003hxe.1	P29371	OTTHUMG00000131124	ENST00000304883.2:c.416C>A	chr4.hg19:g.104640417G>T	ENSP00000303325:p.Thr139Lys	128.0	0.0		128.0	17.0	NM_001059	Q0P510	Missense_Mutation	SNP	ENST00000304883.2	hg19	CCDS3664.1	.	.	.	.	.	.	.	.	.	.	G	31	5.082663	0.94050	.	.	ENSG00000169836	ENST00000304883	T	0.19806	2.12	5.26	5.26	0.73747	GPCR, rhodopsin-like superfamily (1);	0.120864	0.56097	D	0.000032	T	0.51924	0.1703	M	0.82716	2.605	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.58075	-0.7700	10	0.72032	D	0.01	.	17.8687	0.88804	0.0:0.0:1.0:0.0	.	139	P29371	NK3R_HUMAN	K	139	ENSP00000303325:T139K	ENSP00000303325:T139K	T	-	2	0	TACR3	104859866	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	9.398000	0.97281	2.446000	0.82766	0.591000	0.81541	ACG	.	.		0.537	TACR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253804.1	NM_001059	
NDST3	9348	hgsc.bcm.edu	37	4	119154261	119154261	+	Silent	SNP	T	T	C			TCGA-CC-A1HT-01A-11D-A12Z-10	TCGA-CC-A1HT-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6b25a78f-20dc-4ccc-b4c0-f9885d16725d	0255f601-3be9-4059-9d36-7f666977eff0	g.chr4:119154261T>C	ENST00000296499.5	+	9	2317	c.1914T>C	c.(1912-1914)aaT>aaC	p.N638N	NDST3_ENST00000433996.2_Intron	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	638	Heparan sulfate N-sulfotransferase 3.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						AGTTCTTTAATAGAAATAACT	0.368																																					p.N638N		Atlas-SNP	.											.	NDST3	107	.	0			c.T1914C						.						100.0	100.0	100.0					4																	119154261		2203	4300	6503	SO:0001819	synonymous_variant	9348	exon9			CTTTAATAGAAAT	AF074924	CCDS3708.1	4q26	2008-08-04			ENSG00000164100	ENSG00000164100		"""Sulfotransferases, membrane-bound"""	7682	protein-coding gene	gene with protein product		603950				9915799	Standard	NM_004784		Approved	HSST3	uc003ibx.3	O95803	OTTHUMG00000132959	ENST00000296499.5:c.1914T>C	chr4.hg19:g.119154261T>C		234.0	0.0		238.0	45.0	NM_004784	B4DI67|Q4W5C1|Q4W5D0|Q6UWC5|Q9UP21	Silent	SNP	ENST00000296499.5	hg19	CCDS3708.1																																																																																			.	.		0.368	NDST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256517.4	NM_004784	
DCHS2	54798	hgsc.bcm.edu	37	4	155226013	155226013	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CC-A1HT-01A-11D-A12Z-10	TCGA-CC-A1HT-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6b25a78f-20dc-4ccc-b4c0-f9885d16725d	0255f601-3be9-4059-9d36-7f666977eff0	g.chr4:155226013C>A	ENST00000357232.4	-	17	4047	c.4048G>T	c.(4048-4050)Gga>Tga	p.G1350*		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1350	Cadherin 11. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GAAGGGAATCCCCCATCTCGT	0.418																																					p.G1350X		Atlas-SNP	.											.	DCHS2	594	.	0			c.G4048T						.						57.0	54.0	55.0					4																	155226013		2203	4300	6503	SO:0001587	stop_gained	54798	exon17			GGAATCCCCCATC	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.4048G>T	chr4.hg19:g.155226013C>A	ENSP00000349768:p.Gly1350*	409.0	0.0		314.0	47.0	NM_017639	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Nonsense_Mutation	SNP	ENST00000357232.4	hg19	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	C	43	9.986833	0.99312	.	.	ENSG00000197410	ENST00000357232	.	.	.	5.88	5.88	0.94601	.	0.084158	0.49305	D	0.000146	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.2441	0.98394	0.0:1.0:0.0:0.0	.	.	.	.	X	1350	.	ENSP00000349768:G1350X	G	-	1	0	DCHS2	155445463	0.996000	0.38824	0.375000	0.26029	0.049000	0.14656	3.986000	0.56937	2.774000	0.95407	0.655000	0.94253	GGA	.	.		0.418	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552	
PCDHA6	56142	hgsc.bcm.edu	37	5	140210049	140210049	+	Silent	SNP	A	A	G			TCGA-CC-A1HT-01A-11D-A12Z-10	TCGA-CC-A1HT-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6b25a78f-20dc-4ccc-b4c0-f9885d16725d	0255f601-3be9-4059-9d36-7f666977eff0	g.chr5:140210049A>G	ENST00000529310.1	+	1	2487	c.2373A>G	c.(2371-2373)ttA>ttG	p.L791L	PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	791					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCAGGATTTAAATGAAGATC	0.368																																					p.L791L		Atlas-SNP	.											.	PCDHA6	442	.	0			c.A2373G						.						60.0	64.0	63.0					5																	140210049		2203	4300	6503	SO:0001819	synonymous_variant	56142	exon1			GGATTTAAATGAA	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.2373A>G	chr5.hg19:g.140210049A>G		133.0	0.0		153.0	12.0	NM_018909	O75283|Q9NRT8	Silent	SNP	ENST00000529310.1	hg19	CCDS47281.1																																																																																			.	.		0.368	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909	
PCDHB1	29930	hgsc.bcm.edu	37	5	140432442	140432442	+	Missense_Mutation	SNP	G	G	A			TCGA-CC-A1HT-01A-11D-A12Z-10	TCGA-CC-A1HT-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6b25a78f-20dc-4ccc-b4c0-f9885d16725d	0255f601-3be9-4059-9d36-7f666977eff0	g.chr5:140432442G>A	ENST00000306549.3	+	1	1464	c.1387G>A	c.(1387-1389)Gaa>Aaa	p.E463K		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	463	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GACTGTTCGAGAAAACAACAG	0.413																																					p.E463K		Atlas-SNP	.											.	PCDHB1	148	.	0			c.G1387A						.						76.0	75.0	75.0					5																	140432442		2203	4300	6503	SO:0001583	missense	29930	exon1			GTTCGAGAAAACA	AF152488	CCDS4243.1	5q31	2010-01-26			ENSG00000171815	ENSG00000171815		"""Cadherins / Protocadherins : Clustered"""	8680	other	protocadherin		606327				10380929	Standard	NM_013340		Approved	PCDH-BETA1	uc003lik.1	Q9Y5F3	OTTHUMG00000129627	ENST00000306549.3:c.1387G>A	chr5.hg19:g.140432442G>A	ENSP00000307234:p.Glu463Lys	146.0	0.0		147.0	23.0	NM_013340	Q2M257	Missense_Mutation	SNP	ENST00000306549.3	hg19	CCDS4243.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.631364	0.87660	.	.	ENSG00000171815	ENST00000306549	T	0.76316	-1.01	6.17	6.17	0.99709	Cadherin (4);Cadherin-like (1);	0.000000	0.45606	D	0.000356	D	0.94453	0.8215	H	0.99770	4.765	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	D	0.96165	0.9118	10	0.87932	D	0	.	20.4898	0.99202	0.0:0.0:1.0:0.0	.	463	Q9Y5F3	PCDB1_HUMAN	K	463	ENSP00000307234:E463K	ENSP00000307234:E463K	E	+	1	0	PCDHB1	140412626	1.000000	0.71417	0.998000	0.56505	0.878000	0.50629	6.688000	0.74557	2.941000	0.99782	0.655000	0.94253	GAA	.	.		0.413	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251822.2	NM_013340	
PCDHGA6	56109	hgsc.bcm.edu	37	5	140753695	140753695	+	Silent	SNP	G	G	T	rs376765941		TCGA-CC-A1HT-01A-11D-A12Z-10	TCGA-CC-A1HT-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6b25a78f-20dc-4ccc-b4c0-f9885d16725d	0255f601-3be9-4059-9d36-7f666977eff0	g.chr5:140753695G>T	ENST00000517434.1	+	1	45	c.45G>T	c.(43-45)ctG>ctT	p.L15L	PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	15					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCAGGTCCTGCTCCTCACGC	0.597																																					p.L15L		Atlas-SNP	.											.	PCDHGA6	219	.	0			c.G45T						.	G	,,,,,,,,,	1,3989		0,1,1994	14.0	17.0	16.0		,,,,,45,,,,45	1.0	0.0	5		16	0,8370		0,0,4185	no	intron,intron,intron,intron,intron,coding-synonymous,intron,intron,intron,coding-synonymous	PCDHGB3,PCDHGB2,PCDHGB1,PCDHGA6,PCDHGA5,PCDHGA4,PCDHGA3,PCDHGA2,PCDHGA1	NM_018912.2,NM_018915.2,NM_018916.3,NM_018917.2,NM_018918.2,NM_018919.2,NM_018922.2,NM_018923.2,NM_018924.2,NM_032086.1	,,,,,,,,,	0,1,6179	TT,TG,GG		0.0,0.0251,0.0081	,,,,,,,,,	,,,,,15/933,,,,15/819	140753695	1,12359	1995	4185	6180	SO:0001819	synonymous_variant	56109	exon1			GGTCCTGCTCCTC	AF152513	CCDS54926.1, CCDS75335.1	5q31	2010-01-26				ENSG00000253731		"""Cadherins / Protocadherins : Clustered"""	8704	other	protocadherin		606293				10380929	Standard	NM_018919		Approved	PCDH-GAMMA-A6		Q9Y5G7		ENST00000517434.1:c.45G>T	chr5.hg19:g.140753695G>T		122.0	0.0		176.0	47.0	NM_018919	A6H8K7|B2RN55|Q9Y5D1	Silent	SNP	ENST00000517434.1	hg19	CCDS54926.1																																																																																			.	.		0.597	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374743.1	NM_018919	
DNAH8	1769	hgsc.bcm.edu	37	6	38781906	38781906	+	Splice_Site	SNP	G	G	T			TCGA-CC-A1HT-01A-11D-A12Z-10	TCGA-CC-A1HT-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6b25a78f-20dc-4ccc-b4c0-f9885d16725d	0255f601-3be9-4059-9d36-7f666977eff0	g.chr6:38781906G>T	ENST00000359357.3	+	23	2936		c.e23+1		DNAH8_ENST00000449981.2_Splice_Site|DNAH8_ENST00000441566.1_Splice_Site			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8						cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TCCTAATGTGGTAAGTATTAT	0.323																																					.		Atlas-SNP	.											.	DNAH8	1239	.	0			c.3333+1G>T						.						93.0	103.0	100.0					6																	38781906		2203	4299	6502	SO:0001630	splice_region_variant	1769	exon25			AATGTGGTAAGTA	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.2682+1G>T	chr6.hg19:g.38781906G>T		147.0	0.0		146.0	21.0	NM_001206927	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Splice_Site	SNP	ENST00000359357.3	hg19		.	.	.	.	.	.	.	.	.	.	G	21.0	4.079767	0.76528	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.803	0.85618	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DNAH8	38889884	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.832000	0.69337	2.503000	0.84419	0.655000	0.94253	.	.	.		0.323	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927	Intron
EPHA7	2045	hgsc.bcm.edu	37	6	94124469	94124469	+	Silent	SNP	A	A	T			TCGA-CC-A1HT-01A-11D-A12Z-10	TCGA-CC-A1HT-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6b25a78f-20dc-4ccc-b4c0-f9885d16725d	0255f601-3be9-4059-9d36-7f666977eff0	g.chr6:94124469A>T	ENST00000369303.4	-	2	298	c.114T>A	c.(112-114)tcT>tcA	p.S38S	EPHA7_ENST00000369297.1_Silent_p.S38S	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	38	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		GTTGTGCTTTAGAATCCAGCA	0.323																																					p.S38S		Atlas-SNP	.											.	EPHA7	251	.	0			c.T114A						.						93.0	90.0	91.0					6																	94124469		2203	4298	6501	SO:0001819	synonymous_variant	2045	exon2			TGCTTTAGAATCC	L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3390	protein-coding gene	gene with protein product		602190	"""EphA7"""			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.114T>A	chr6.hg19:g.94124469A>T		97.0	0.0		71.0	10.0	NM_004440	A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Silent	SNP	ENST00000369303.4	hg19	CCDS5031.1																																																																																			.	.		0.323	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1		
SYNE1	23345	hgsc.bcm.edu	37	6	152674871	152674871	+	Missense_Mutation	SNP	G	G	T	rs201704617		TCGA-CC-A1HT-01A-11D-A12Z-10	TCGA-CC-A1HT-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6b25a78f-20dc-4ccc-b4c0-f9885d16725d	0255f601-3be9-4059-9d36-7f666977eff0	g.chr6:152674871G>T	ENST00000367255.5	-	68	11536	c.10935C>A	c.(10933-10935)caC>caA	p.H3645Q	SYNE1_ENST00000341594.5_Missense_Mutation_p.H3616Q|SYNE1_ENST00000423061.1_Missense_Mutation_p.H3630Q|SYNE1_ENST00000448038.1_Missense_Mutation_p.H3630Q|SYNE1_ENST00000265368.4_Missense_Mutation_p.H3645Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3645					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCACTTCTTCGTGCCACTTCT	0.438										HNSCC(10;0.0054)																											p.H3645Q		Atlas-SNP	.											.	SYNE1	3227	.	0			c.C10935A						.						131.0	117.0	122.0					6																	152674871		2203	4300	6503	SO:0001583	missense	23345	exon68			TTCTTCGTGCCAC	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.10935C>A	chr6.hg19:g.152674871G>T	ENSP00000356224:p.His3645Gln	122.0	0.0		132.0	21.0	NM_182961	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	hg19	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	11.54	1.670013	0.29693	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5	5.75	-11.5	0.00074	.	0.095986	0.45867	N	0.000325	T	0.06096	0.0158	L	0.43923	1.385	0.80722	D	1	B;B;B;B	0.16396	0.002;0.002;0.002;0.017	B;B;B;B	0.15052	0.008;0.008;0.008;0.012	T	0.28138	-1.0053	10	0.21014	T	0.42	.	8.2456	0.31686	0.4341:0.2698:0.2961:0.0	.	3645;3645;3645;3630	B7ZBC3;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	Q	3645;3630;3645;3630;3616	ENSP00000356224:H3645Q;ENSP00000396024:H3630Q;ENSP00000265368:H3645Q;ENSP00000390975:H3630Q;ENSP00000341887:H3616Q	ENSP00000265368:H3645Q	H	-	3	2	SYNE1	152716564	0.200000	0.23398	0.321000	0.25320	0.811000	0.45836	-0.313000	0.08103	-1.959000	0.01018	-0.290000	0.09829	CAC	.	G|0.999;A|0.001		0.438	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
INTS1	26173	hgsc.bcm.edu	37	7	1517435	1517435	+	Missense_Mutation	SNP	C	C	T			TCGA-CC-A1HT-01A-11D-A12Z-10	TCGA-CC-A1HT-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6b25a78f-20dc-4ccc-b4c0-f9885d16725d	0255f601-3be9-4059-9d36-7f666977eff0	g.chr7:1517435C>T	ENST00000404767.3	-	34	4853	c.4768G>A	c.(4768-4770)Gag>Aag	p.E1590K	INTS1_ENST00000389470.4_Missense_Mutation_p.E1789K	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	1590					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GGCTCCTCCTCCTGCAGCAGC	0.687																																					p.E1590K		Atlas-SNP	.											.	INTS1	145	.	0			c.G4768A						.						26.0	33.0	30.0					7																	1517435		2068	4183	6251	SO:0001583	missense	26173	exon34			CCTCCTCCTGCAG	AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.4768G>A	chr7.hg19:g.1517435C>T	ENSP00000385722:p.Glu1590Lys	93.0	0.0		165.0	21.0	NM_001080453	A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Missense_Mutation	SNP	ENST00000404767.3	hg19	CCDS47526.1	.	.	.	.	.	.	.	.	.	.	C	11.63	1.697416	0.30142	.	.	ENSG00000164880	ENST00000404767;ENST00000389470	T;T	0.52295	0.75;0.67	4.46	3.01	0.34805	.	0.197549	0.52532	D	0.000077	T	0.34164	0.0888	L	0.32530	0.975	0.37088	D	0.899313	B	0.09022	0.002	B	0.08055	0.003	T	0.18178	-1.0345	10	0.36615	T	0.2	.	9.7376	0.40397	0.0:0.8534:0.0:0.1466	.	1590	Q8N201	INT1_HUMAN	K	1590;1789	ENSP00000385722:E1590K;ENSP00000374121:E1789K	ENSP00000374121:E1789K	E	-	1	0	INTS1	1483961	1.000000	0.71417	0.943000	0.38184	0.923000	0.55619	5.424000	0.66464	0.441000	0.26529	0.561000	0.74099	GAG	.	.		0.687	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1		
ITGB8	3696	hgsc.bcm.edu	37	7	20445703	20445703	+	Silent	SNP	T	T	A			TCGA-CC-A1HT-01A-11D-A12Z-10	TCGA-CC-A1HT-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6b25a78f-20dc-4ccc-b4c0-f9885d16725d	0255f601-3be9-4059-9d36-7f666977eff0	g.chr7:20445703T>A	ENST00000222573.4	+	12	2616	c.1932T>A	c.(1930-1932)ctT>ctA	p.L644L	ITGB8_ENST00000537992.1_Silent_p.L509L	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	644					cartilage development (GO:0051216)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|ganglioside metabolic process (GO:0001573)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of gene expression (GO:0010629)|placenta blood vessel development (GO:0060674)|positive regulation of gene expression (GO:0010628)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	extracellular matrix protein binding (GO:1990430)|receptor activity (GO:0004872)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						TGCAATGCCTTCACCCTCACA	0.383																																					p.L644L		Atlas-SNP	.											.	ITGB8	159	.	0			c.T1932A						.						133.0	118.0	123.0					7																	20445703		2203	4300	6503	SO:0001819	synonymous_variant	3696	exon12			ATGCCTTCACCCT		CCDS5370.1	7p15.3	2010-03-23			ENSG00000105855	ENSG00000105855		"""Integrins"""	6163	protein-coding gene	gene with protein product		604160					Standard	XM_005249751		Approved		uc003suu.3	P26012	OTTHUMG00000023594	ENST00000222573.4:c.1932T>A	chr7.hg19:g.20445703T>A		145.0	0.0		141.0	25.0	NM_002214	A4D133|B4DHD4	Silent	SNP	ENST00000222573.4	hg19	CCDS5370.1																																																																																			.	.		0.383	ITGB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059915.3	NM_002214	
PDE1C	5137	hgsc.bcm.edu	37	7	31877505	31877505	+	Missense_Mutation	SNP	G	G	A			TCGA-CC-A1HT-01A-11D-A12Z-10	TCGA-CC-A1HT-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6b25a78f-20dc-4ccc-b4c0-f9885d16725d	0255f601-3be9-4059-9d36-7f666977eff0	g.chr7:31877505G>A	ENST00000396191.1	-	10	1516	c.1061C>T	c.(1060-1062)aCt>aTt	p.T354I	PDE1C_ENST00000396184.3_Missense_Mutation_p.T354I|PDE1C_ENST00000321453.7_Missense_Mutation_p.T354I|PDE1C_ENST00000396182.2_Missense_Mutation_p.T354I|PDE1C_ENST00000396193.1_Missense_Mutation_p.T414I	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	354	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)	p.T354I(2)|p.T414I(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	CTGCAGAGCAGTCTTCATTGC	0.433																																					p.T414I		Atlas-SNP	.											PDE1C_ENST00000396193,NS,carcinoma,0,3	PDE1C	465	.	3	Substitution - Missense(3)	lung(3)	c.C1241T						.						191.0	184.0	187.0					7																	31877505		2203	4300	6503	SO:0001583	missense	5137	exon11			AGAGCAGTCTTCA	U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"""Phosphodiesterases"""	8776	protein-coding gene	gene with protein product		602987	"""phosphodiesterase 1C, calmodulin-dependent (70kD)"""			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.1061C>T	chr7.hg19:g.31877505G>A	ENSP00000379494:p.Thr354Ile	109.0	1.0		117.0	11.0	NM_001191058	B3KPC6|E9PE92|Q14124|Q8NB10	Missense_Mutation	SNP	ENST00000396191.1	hg19	CCDS55099.1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.953691	0.53293	.	.	ENSG00000154678	ENST00000396193;ENST00000396191;ENST00000321453;ENST00000396184;ENST00000396182	T;T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05;-1.05	5.53	4.59	0.56863	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.090141	0.64402	D	0.000001	T	0.73079	0.3541	M	0.66297	2.02	0.43021	D	0.994577	B;B;B	0.24920	0.016;0.017;0.114	B;B;B	0.21917	0.037;0.009;0.03	T	0.74087	-0.3778	10	0.87932	D	0	.	8.4074	0.32622	0.0:0.1284:0.5786:0.293	.	354;414;354	Q14123-2;E9PE92;Q14123	.;.;PDE1C_HUMAN	I	414;354;354;354;354	ENSP00000379496:T414I;ENSP00000379494:T354I;ENSP00000318105:T354I;ENSP00000379487:T354I;ENSP00000379485:T354I	ENSP00000318105:T354I	T	-	2	0	PDE1C	31844030	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	5.689000	0.68234	2.603000	0.88011	0.655000	0.94253	ACT	.	.		0.433	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328458.1		
ABCB1	5243	hgsc.bcm.edu	37	7	87196165	87196165	+	Missense_Mutation	SNP	T	T	A			TCGA-CC-A1HT-01A-11D-A12Z-10	TCGA-CC-A1HT-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6b25a78f-20dc-4ccc-b4c0-f9885d16725d	0255f601-3be9-4059-9d36-7f666977eff0	g.chr7:87196165T>A	ENST00000265724.3	-	7	883	c.466A>T	c.(466-468)Atg>Ttg	p.M156L	ABCB1_ENST00000543898.1_Intron	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	156	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	TCCTGTCGCATTATAGCATGA	0.428																																					p.M156L		Atlas-SNP	.											.	ABCB1	263	.	0			c.A466T						.						135.0	138.0	137.0					7																	87196165		2203	4300	6503	SO:0001583	missense	5243	exon7			GTCGCATTATAGC	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.466A>T	chr7.hg19:g.87196165T>A	ENSP00000265724:p.Met156Leu	147.0	0.0		133.0	23.0	NM_000927	A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	hg19	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	T	6.733	0.504023	0.12822	.	.	ENSG00000085563	ENST00000265724	D	0.86769	-2.17	5.91	4.69	0.59074	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.259797	0.51477	D	0.000087	T	0.61375	0.2342	N	0.00605	-1.335	0.80722	D	1	B	0.10296	0.003	B	0.17433	0.018	T	0.64947	-0.6287	10	0.02654	T	1	-34.9453	12.3263	0.55013	0.0:0.0:0.322:0.678	.	156	P08183	MDR1_HUMAN	L	156	ENSP00000265724:M156L	ENSP00000265724:M156L	M	-	1	0	ABCB1	87034101	0.987000	0.35691	0.919000	0.36401	0.941000	0.58515	1.562000	0.36353	2.269000	0.75478	0.533000	0.62120	ATG	.	.		0.428	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927	
SLC13A1	6561	hgsc.bcm.edu	37	7	122787291	122787291	+	Missense_Mutation	SNP	G	G	C			TCGA-CC-A1HT-01A-11D-A12Z-10	TCGA-CC-A1HT-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6b25a78f-20dc-4ccc-b4c0-f9885d16725d	0255f601-3be9-4059-9d36-7f666977eff0	g.chr7:122787291G>C	ENST00000194130.2	-	7	773	c.734C>G	c.(733-735)gCc>gGc	p.A245G	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	245					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	AGAAGAGTAGGCAATGCACAA	0.413																																					p.A245G		Atlas-SNP	.											.	SLC13A1	110	.	0			c.C734G						.						242.0	184.0	204.0					7																	122787291		2203	4300	6503	SO:0001583	missense	6561	exon7			GAGTAGGCAATGC		CCDS5786.1	7q31.32	2013-07-18	2013-07-18		ENSG00000081800	ENSG00000081800		"""Solute carriers"""	10916	protein-coding gene	gene with protein product		606193	"""solute carrier family 13 (sodium/sulphate symporters), member 1"""			11161786	Standard	NM_022444		Approved	NaSi-1, NAS1	uc003vkm.3	Q9BZW2	OTTHUMG00000157087	ENST00000194130.2:c.734C>G	chr7.hg19:g.122787291G>C	ENSP00000194130:p.Ala245Gly	163.0	0.0		168.0	29.0	NM_022444	Q9H5Z0	Missense_Mutation	SNP	ENST00000194130.2	hg19	CCDS5786.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.720452	0.89205	.	.	ENSG00000081800	ENST00000194130	T	0.03094	4.05	5.0	5.0	0.66597	.	0.107097	0.64402	D	0.000006	T	0.18841	0.0452	M	0.85777	2.775	0.80722	D	1	D;D	0.55800	0.973;0.973	P;P	0.62382	0.901;0.901	T	0.00512	-1.1696	10	0.51188	T	0.08	.	15.81	0.78552	0.0:0.0:1.0:0.0	.	245;245	A4D0X1;Q9BZW2	.;S13A1_HUMAN	G	245	ENSP00000194130:A245G	ENSP00000194130:A245G	A	-	2	0	SLC13A1	122574527	1.000000	0.71417	0.995000	0.50966	0.968000	0.65278	8.354000	0.90080	2.337000	0.79520	0.563000	0.77884	GCC	.	.		0.413	SLC13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347404.1	NM_022444	
NUP205	23165	hgsc.bcm.edu	37	7	135269705	135269705	+	Missense_Mutation	SNP	C	C	T			TCGA-CC-A1HT-01A-11D-A12Z-10	TCGA-CC-A1HT-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6b25a78f-20dc-4ccc-b4c0-f9885d16725d	0255f601-3be9-4059-9d36-7f666977eff0	g.chr7:135269705C>T	ENST00000285968.6	+	8	1194	c.1168C>T	c.(1168-1170)Cgc>Tgc	p.R390C	NUP205_ENST00000440390.2_Missense_Mutation_p.R184C	NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	390					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						ATTTTATATTCGCAGAGTCCA	0.348																																					p.R390C		Atlas-SNP	.											.	NUP205	198	.	0			c.C1168T						.						56.0	55.0	55.0					7																	135269705		2203	4300	6503	SO:0001583	missense	23165	exon8			TATATTCGCAGAG	D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"""chromosome 7 open reading frame 14"""	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.1168C>T	chr7.hg19:g.135269705C>T	ENSP00000285968:p.Arg390Cys	161.0	0.0		153.0	18.0	NM_015135	A6H8X3|Q86YC1	Missense_Mutation	SNP	ENST00000285968.6	hg19	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.848444	0.91277	.	.	ENSG00000155561	ENST00000285968;ENST00000440390	T;T	0.35605	1.3;1.3	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.64204	0.2577	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.66901	-0.5806	10	0.66056	D	0.02	-27.8968	19.44	0.94815	0.0:1.0:0.0:0.0	.	390	Q92621	NU205_HUMAN	C	390;184	ENSP00000285968:R390C;ENSP00000401983:R184C	ENSP00000285968:R390C	R	+	1	0	NUP205	134920245	1.000000	0.71417	1.000000	0.80357	0.784000	0.44337	7.818000	0.86416	2.586000	0.87340	0.591000	0.81541	CGC	.	.		0.348	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1		
DPP6	1804	hgsc.bcm.edu	37	7	154263941	154263941	+	Silent	SNP	C	C	T			TCGA-CC-A1HT-01A-11D-A12Z-10	TCGA-CC-A1HT-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6b25a78f-20dc-4ccc-b4c0-f9885d16725d	0255f601-3be9-4059-9d36-7f666977eff0	g.chr7:154263941C>T	ENST00000377770.3	+	5	708	c.567C>T	c.(565-567)gcC>gcT	p.A189A	DPP6_ENST00000332007.3_Silent_p.A127A|DPP6_ENST00000404039.1_Silent_p.A125A|DPP6_ENST00000427557.1_Silent_p.A127A|DPP6_ENST00000406326.1_Silent_p.A189A|DPP6_ENST00000496611.1_3'UTR			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	189					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CATTAAGAGCCATCAGATATG	0.308																																					p.A189A	NSCLC(125;1384 1783 2490 7422 34254)	Atlas-SNP	.											.	DPP6	383	.	0			c.C567T						.						67.0	68.0	68.0					7																	154263941		1794	4055	5849	SO:0001819	synonymous_variant	1804	exon5			AAGAGCCATCAGA	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.567C>T	chr7.hg19:g.154263941C>T		185.0	0.0		127.0	15.0	NM_130797		Silent	SNP	ENST00000377770.3	hg19																																																																																				.	.		0.308	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	NM_130797	
CSMD1	64478	hgsc.bcm.edu	37	8	3081364	3081364	+	Silent	SNP	G	G	T			TCGA-CC-A1HT-01A-11D-A12Z-10	TCGA-CC-A1HT-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6b25a78f-20dc-4ccc-b4c0-f9885d16725d	0255f601-3be9-4059-9d36-7f666977eff0	g.chr8:3081364G>T	ENST00000520002.1	-	29	4929	c.4374C>A	c.(4372-4374)ggC>ggA	p.G1458G	CSMD1_ENST00000539096.1_Silent_p.G1457G|CSMD1_ENST00000537824.1_Silent_p.G1457G|CSMD1_ENST00000602723.1_Silent_p.G1458G|CSMD1_ENST00000400186.3_Silent_p.G1458G|CSMD1_ENST00000542608.1_Silent_p.G1457G|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000602557.1_Silent_p.G1458G			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1458	CUB 9. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CACCTGCTGGGCCCGTCAGAT	0.507																																					p.G1457G		Atlas-SNP	.											.	CSMD1	1469	.	0			c.C4371A						.						56.0	61.0	59.0					8																	3081364		1901	4123	6024	SO:0001819	synonymous_variant	64478	exon28			TGCTGGGCCCGTC			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.4374C>A	chr8.hg19:g.3081364G>T		188.0	0.0		169.0	18.0	NM_033225	Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	hg19		.	.	.	.	.	.	.	.	.	.	G	10.22	1.288916	0.23478	.	.	ENSG00000183117	ENST00000335551	.	.	.	5.08	-0.301	0.12800	.	.	.	.	.	T	0.44307	0.1287	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.24297	-1.0164	4	.	.	.	.	4.2458	0.10670	0.1348:0.2292:0.5181:0.1179	.	.	.	.	T	938	.	.	P	-	1	0	CSMD1	3068771	1.000000	0.71417	0.821000	0.32701	0.974000	0.67602	1.471000	0.35365	-0.041000	0.13558	0.650000	0.86243	CCC	.	.		0.507	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225	
MYBL1	4603	hgsc.bcm.edu	37	8	67492397	67492397	+	Missense_Mutation	SNP	A	A	G			TCGA-CC-A1HT-01A-11D-A12Z-10	TCGA-CC-A1HT-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6b25a78f-20dc-4ccc-b4c0-f9885d16725d	0255f601-3be9-4059-9d36-7f666977eff0	g.chr8:67492397A>G	ENST00000522677.3	-	9	1482	c.1072T>C	c.(1072-1074)Ttt>Ctt	p.F358L	MYBL1_ENST00000524176.2_Missense_Mutation_p.F358L|MYBL1_ENST00000517885.1_Intron	NM_001080416.2|NM_001144755.1	NP_001073885.1|NP_001138227.1	P10243	MYBA_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 1	358	Negative regulatory domain. {ECO:0000250}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			GTCTCTGCAAATTCTGGGATG	0.388																																					p.F358L		Atlas-SNP	.											.	MYBL1	73	.	0			c.T1072C						.						59.0	56.0	57.0					8																	67492397		1857	4100	5957	SO:0001583	missense	4603	exon9			CTGCAAATTCTGG	X13294	CCDS47867.1, CCDS55241.1	8q22	2013-07-09	2013-07-09		ENSG00000185697	ENSG00000185697			7547	protein-coding gene	gene with protein product		159405					Standard	XM_005251251		Approved	AMYB, A-myb	uc003xwj.3	P10243	OTTHUMG00000164559	ENST00000522677.3:c.1072T>C	chr8.hg19:g.67492397A>G	ENSP00000429633:p.Phe358Leu	111.0	0.0		206.0	20.0	NM_001080416	E7EW29|Q495F9	Missense_Mutation	SNP	ENST00000522677.3	hg19	CCDS47867.1	.	.	.	.	.	.	.	.	.	.	A	19.21	3.784089	0.70222	.	.	ENSG00000185697	ENST00000522677;ENST00000524176	T;T	0.22134	2.42;1.97	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.39145	0.1067	L	0.48986	1.54	0.80722	D	1	D;D;P	0.76494	0.999;0.969;0.714	D;D;B	0.68765	0.96;0.914;0.288	T	0.06285	-1.0835	10	0.34782	T	0.22	-15.6715	15.3103	0.74026	1.0:0.0:0.0:0.0	.	358;357;358	Q495F9;Q495G0;P10243	.;.;MYBA_HUMAN	L	358	ENSP00000429633:F358L;ENSP00000428011:F358L	ENSP00000429633:F358L	F	-	1	0	MYBL1	67654951	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	8.546000	0.90661	2.007000	0.58848	0.533000	0.62120	TTT	.	.		0.388	MYBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379221.3	XM_034274	
DDX31	64794	hgsc.bcm.edu	37	9	135537950	135537950	+	Missense_Mutation	SNP	C	C	T	rs367667543		TCGA-CC-A1HT-01A-11D-A12Z-10	TCGA-CC-A1HT-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6b25a78f-20dc-4ccc-b4c0-f9885d16725d	0255f601-3be9-4059-9d36-7f666977eff0	g.chr9:135537950C>T	ENST00000372159.3	-	2	674	c.523G>A	c.(523-525)Gca>Aca	p.A175T	DDX31_ENST00000544003.1_Missense_Mutation_p.A79T|DDX31_ENST00000372153.1_Missense_Mutation_p.A175T|DDX31_ENST00000480876.1_5'UTR|DDX31_ENST00000310532.2_Missense_Mutation_p.A175T|DDX31_ENST00000438527.3_Missense_Mutation_p.A46T	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	175						nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		ATTTTTTGTGCGTTCCCCTTA	0.428																																					p.A175T		Atlas-SNP	.											.	DDX31	76	.	0			c.G523A						.	C	THR/ALA,THR/ALA	0,4406		0,0,2203	174.0	171.0	172.0		523,523	-7.7	0.0	9		172	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	DDX31	NM_138620.1,NM_022779.7	58,58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	175/586,175/852	135537950	1,13005	2203	4300	6503	SO:0001583	missense	64794	exon2			TTTGTGCGTTCCC	AF427339	CCDS6951.1, CCDS6952.1	9q34.2	2012-04-17	2003-06-13		ENSG00000125485	ENSG00000125485		"""DEAD-boxes"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	16715	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 25"""		"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 31"""				Standard	NM_022779		Approved	FLJ13633, FLJ23349, FLJ14578, PPP1R25	uc004cbq.1	Q9H8H2	OTTHUMG00000020843	ENST00000372159.3:c.523G>A	chr9.hg19:g.135537950C>T	ENSP00000361232:p.Ala175Thr	319.0	0.0		271.0	22.0	NM_022779	Q5K6N2|Q5K6N3|Q5K6N4|Q5VZJ4|Q5VZJ9|Q96E91|Q96NY2|Q96SX5|Q9H5K6	Missense_Mutation	SNP	ENST00000372159.3	hg19	CCDS6951.1	.	.	.	.	.	.	.	.	.	.	c	3.149	-0.174630	0.06421	0.0	1.16E-4	ENSG00000125485	ENST00000372159;ENST00000372155;ENST00000372153;ENST00000438527;ENST00000310532;ENST00000544003	T;T;T;T;T	0.47869	4.37;3.92;4.34;3.5;0.83	5.6	-7.73	0.01245	.	1.174590	0.05861	N	0.622977	T	0.15998	0.0385	N	0.08118	0	0.09310	N	1	B;B;B	0.23891	0.093;0.003;0.002	B;B;B	0.14578	0.011;0.003;0.0	T	0.18871	-1.0323	10	0.09843	T	0.71	0.329	0.3822	0.00396	0.2246:0.2316:0.2547:0.2891	.	175;175;175	Q9H8H2-2;Q9H8H2-3;Q9H8H2	.;.;DDX31_HUMAN	T	175;175;175;46;175;79	ENSP00000361232:A175T;ENSP00000361226:A175T;ENSP00000387730:A46T;ENSP00000310539:A175T;ENSP00000442425:A79T	ENSP00000310539:A175T	A	-	1	0	DDX31	134527771	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-0.965000	0.03829	-0.997000	0.03450	-0.285000	0.09966	GCA	.	.		0.428	DDX31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054794.1	NM_138620	
EPC1	80314	hgsc.bcm.edu	37	10	32582635	32582635	+	Missense_Mutation	SNP	T	T	C			TCGA-CC-A1HT-01A-11D-A12Z-10	TCGA-CC-A1HT-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6b25a78f-20dc-4ccc-b4c0-f9885d16725d	0255f601-3be9-4059-9d36-7f666977eff0	g.chr10:32582635T>C	ENST00000263062.8	-	3	613	c.344A>G	c.(343-345)tAt>tGt	p.Y115C	EPC1_ENST00000319778.6_Missense_Mutation_p.Y115C|EPC1_ENST00000375110.2_Missense_Mutation_p.Y65C	NM_025209.2	NP_079485.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	115					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				ATCCAAATCATAATCAGGCTG	0.378																																					p.Y115C		Atlas-SNP	.											.	EPC1	74	.	0			c.A344G						.						55.0	50.0	52.0					10																	32582635		2203	4300	6503	SO:0001583	missense	80314	exon3			AAATCATAATCAG	AF277374	CCDS7172.1, CCDS60511.1, CCDS73083.1	10p11	2005-12-12			ENSG00000120616	ENSG00000120616			19876	protein-coding gene	gene with protein product		610999				10976108	Standard	NM_025209		Approved	Epl1	uc001iwg.2	Q9H2F5	OTTHUMG00000017925	ENST00000263062.8:c.344A>G	chr10.hg19:g.32582635T>C	ENSP00000263062:p.Tyr115Cys	210.0	0.0		260.0	37.0	NM_025209	B4DSC3|D3DRX7|Q5VW54|Q5VW56|Q5VW58|Q8NAQ4|Q8NE21|Q96LF4|Q96RR6|Q9H7T7	Missense_Mutation	SNP	ENST00000263062.8	hg19	CCDS7172.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.397618	0.83120	.	.	ENSG00000120616	ENST00000375110;ENST00000319778;ENST00000263062	D;D;D	0.82255	-1.59;-1.59;-1.59	5.67	5.67	0.87782	Enhancer of polycomb-like, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92655	0.7666	M	0.89601	3.045	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.997;1.0;1.0	D	0.94069	0.7333	10	0.87932	D	0	-10.2067	15.9001	0.79365	0.0:0.0:0.0:1.0	.	115;65;115;115	B8XCX7;Q9H2F5-3;Q9H2F5-2;Q9H2F5	.;.;.;EPC1_HUMAN	C	65;115;115	ENSP00000364251:Y65C;ENSP00000318559:Y115C;ENSP00000263062:Y115C	ENSP00000263062:Y115C	Y	-	2	0	EPC1	32622641	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.040000	0.89188	2.162000	0.67917	0.383000	0.25322	TAT	.	.		0.378	EPC1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047484.1		
ANO9	338440	hgsc.bcm.edu	37	11	418530	418530	+	Silent	SNP	C	C	T	rs369737399		TCGA-CC-A1HT-01A-11D-A12Z-10	TCGA-CC-A1HT-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6b25a78f-20dc-4ccc-b4c0-f9885d16725d	0255f601-3be9-4059-9d36-7f666977eff0	g.chr11:418530C>T	ENST00000332826.6	-	23	2274	c.2190G>A	c.(2188-2190)tcG>tcA	p.S730S	SIGIRR_ENST00000397632.3_5'Flank|SIGIRR_ENST00000382520.2_5'Flank|SIGIRR_ENST00000332725.3_5'Flank	NM_001012302.2	NP_001012302	A1A5B4	ANO9_HUMAN	anoctamin 9	730					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|negative regulation of intracellular calcium activated chloride channel activity (GO:1902939)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						TGTTCTTCACCGACTGAGGGA	0.637																																					p.S730S		Atlas-SNP	.											.	ANO9	61	.	0			c.G2190A						.	C		0,4406		0,0,2203	112.0	100.0	104.0		2190	-7.1	0.0	11		104	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ANO9	NM_001012302.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		730/783	418530	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	338440	exon23			CTTCACCGACTGA	U33271	CCDS31326.1	11p15.5	2014-04-09	2008-08-28	2008-08-28	ENSG00000185101	ENSG00000185101		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	20679	protein-coding gene	gene with protein product			"""tumor protein p53 inducible protein 5"", ""transmembrane protein 16J"""	TP53I5, TMEM16J		9305847, 24692353	Standard	NM_001012302		Approved	PIG5	uc001lpi.2	A1A5B4	OTTHUMG00000165446	ENST00000332826.6:c.2190G>A	chr11.hg19:g.418530C>T		139.0	0.0		137.0	15.0	NM_001012302	B3KUC4|B4E134|Q8TEN4	Silent	SNP	ENST00000332826.6	hg19	CCDS31326.1																																																																																			.	.		0.637	ANO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384116.1	NM_001012302	
OR5D13	390142	hgsc.bcm.edu	37	11	55541610	55541610	+	Missense_Mutation	SNP	G	G	A			TCGA-CC-A1HT-01A-11D-A12Z-10	TCGA-CC-A1HT-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6b25a78f-20dc-4ccc-b4c0-f9885d16725d	0255f601-3be9-4059-9d36-7f666977eff0	g.chr11:55541610G>A	ENST00000361760.1	+	1	697	c.697G>A	c.(697-699)Gca>Aca	p.A233T		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	233						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				GATGCGATCTGCAAGTGGGCG	0.418																																					p.A233T		Atlas-SNP	.											.	OR5D13	96	.	0			c.G697A						.						133.0	120.0	124.0					11																	55541610		2200	4296	6496	SO:0001583	missense	390142	exon1			CGATCTGCAAGTG	BK004394	CCDS31507.1	11q11	2012-08-09			ENSG00000198877	ENSG00000198877		"""GPCR / Class A : Olfactory receptors"""	15280	protein-coding gene	gene with protein product							Standard	NM_001001967		Approved		uc010ril.2	Q8NGL4	OTTHUMG00000166807	ENST00000361760.1:c.697G>A	chr11.hg19:g.55541610G>A	ENSP00000354800:p.Ala233Thr	170.0	0.0		189.0	17.0	NM_001001967	Q6IF68|Q6IFC9	Missense_Mutation	SNP	ENST00000361760.1	hg19	CCDS31507.1	.	.	.	.	.	.	.	.	.	.	G	8.180	0.793602	0.16327	.	.	ENSG00000198877	ENST00000361760	T	0.00174	8.62	3.82	-0.775	0.10988	GPCR, rhodopsin-like superfamily (1);	0.514144	0.14326	N	0.326681	T	0.00109	0.0003	N	0.20357	0.565	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.12553	-1.0543	10	0.28530	T	0.3	-0.3088	3.2185	0.06707	0.471:0.0:0.2483:0.2807	.	233	Q8NGL4	OR5DD_HUMAN	T	233	ENSP00000354800:A233T	ENSP00000354800:A233T	A	+	1	0	OR5D13	55298186	0.000000	0.05858	0.004000	0.12327	0.015000	0.08874	-0.680000	0.05197	0.230000	0.21059	0.486000	0.48141	GCA	.	.		0.418	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391511.1	NM_001001967	
BTBD18	643376	hgsc.bcm.edu	37	11	57512606	57512606	+	Missense_Mutation	SNP	G	G	T			TCGA-CC-A1HT-01A-11D-A12Z-10	TCGA-CC-A1HT-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6b25a78f-20dc-4ccc-b4c0-f9885d16725d	0255f601-3be9-4059-9d36-7f666977eff0	g.chr11:57512606G>T	ENST00000436147.3	-	2	1326	c.1139C>A	c.(1138-1140)aCt>aAt	p.T380N	BTBD18_ENST00000422652.1_Missense_Mutation_p.T380N|RP11-691N7.6_ENST00000531074.1_Intron|TMX2-CTNND1_ENST00000528395.1_Intron			B2RXH4	BTBDI_HUMAN	BTB (POZ) domain containing 18	380										endometrium(3)|kidney(1)	4						GCTATCTTGAGTGTTTTTGAG	0.498																																					p.T380N		Atlas-SNP	.											.	BTBD18	26	.	0			c.C1139A						.						35.0	34.0	34.0					11																	57512606		692	1591	2283	SO:0001583	missense	643376	exon3			TCTTGAGTGTTTT		CCDS44603.1	11q12.1	2013-01-08			ENSG00000233436	ENSG00000233436		"""BTB/POZ domain containing"""	37214	protein-coding gene	gene with protein product							Standard	NM_001145101		Approved		uc010rjy.2	B2RXH4	OTTHUMG00000167203	ENST00000436147.3:c.1139C>A	chr11.hg19:g.57512606G>T	ENSP00000397020:p.Thr380Asn	91.0	0.0		106.0	9.0	NM_001145101		Missense_Mutation	SNP	ENST00000436147.3	hg19	CCDS44603.1	.	.	.	.	.	.	.	.	.	.	G	5.683	0.310659	0.10733	.	.	ENSG00000233436	ENST00000422652;ENST00000436147	T;T	0.79352	-1.26;-1.26	5.1	5.1	0.69264	.	.	.	.	.	T	0.65322	0.2680	N	0.14661	0.345	0.09310	N	1	B	0.13594	0.008	B	0.12156	0.007	T	0.59172	-0.7504	9	0.72032	D	0.01	.	13.884	0.63698	0.0:0.0:1.0:0.0	.	380	B2RXH4	BTBDI_HUMAN	N	380	ENSP00000394472:T380N;ENSP00000397020:T380N	ENSP00000394472:T380N	T	-	2	0	BTBD18	57269182	0.002000	0.14202	0.027000	0.17364	0.137000	0.21094	1.151000	0.31651	2.659000	0.90383	0.561000	0.74099	ACT	.	.		0.498	BTBD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393718.2	NM_001145101	
FAM111B	374393	hgsc.bcm.edu	37	11	58893210	58893210	+	Missense_Mutation	SNP	T	T	G			TCGA-CC-A1HT-01A-11D-A12Z-10	TCGA-CC-A1HT-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6b25a78f-20dc-4ccc-b4c0-f9885d16725d	0255f601-3be9-4059-9d36-7f666977eff0	g.chr11:58893210T>G	ENST00000343597.3	+	4	1831	c.1640T>G	c.(1639-1641)aTt>aGt	p.I547S	FAM111B_ENST00000529618.1_Missense_Mutation_p.I517S|FAM111B_ENST00000411426.1_Missense_Mutation_p.I517S	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	547							catalytic activity (GO:0003824)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						GATTATGCCATTTTAAAACTA	0.378																																					p.I547S		Atlas-SNP	.											.	FAM111B	84	.	0			c.T1640G						.						92.0	90.0	90.0					11																	58893210		2201	4295	6496	SO:0001583	missense	374393	exon4			ATGCCATTTTAAA	BC062456	CCDS7972.1, CCDS44611.1	11q12.1	2014-03-13			ENSG00000189057	ENSG00000189057			24200	protein-coding gene	gene with protein product		615584				24268661	Standard	NM_198947		Approved	CANP	uc001nnl.3	Q6SJ93	OTTHUMG00000167279	ENST00000343597.3:c.1640T>G	chr11.hg19:g.58893210T>G	ENSP00000341565:p.Ile547Ser	90.0	0.0		69.0	14.0	NM_198947	B4E2G2|Q6P661	Missense_Mutation	SNP	ENST00000343597.3	hg19	CCDS7972.1	.	.	.	.	.	.	.	.	.	.	T	16.36	3.102341	0.56183	.	.	ENSG00000189057	ENST00000411426;ENST00000529618;ENST00000343597	D;D;D	0.90069	-2.61;-2.61;-2.61	4.63	4.63	0.57726	Peptidase cysteine/serine, trypsin-like (1);	0.233245	0.28940	N	0.013644	D	0.93207	0.7836	M	0.77313	2.365	0.27418	N	0.954369	D	0.63046	0.992	D	0.65987	0.94	D	0.87986	0.2746	10	0.87932	D	0	.	11.667	0.51379	0.0:0.0:0.0:1.0	.	547	Q6SJ93	F111B_HUMAN	S	517;517;547	ENSP00000393855:I517S;ENSP00000432875:I517S;ENSP00000341565:I547S	ENSP00000341565:I547S	I	+	2	0	FAM111B	58649786	0.281000	0.24258	0.851000	0.33527	0.453000	0.32348	5.032000	0.64140	1.958000	0.56883	0.533000	0.62120	ATT	.	.		0.378	FAM111B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393974.1	NM_198947	
MYRF	745	hgsc.bcm.edu	37	11	61537931	61537931	+	Missense_Mutation	SNP	C	C	T			TCGA-CC-A1HT-01A-11D-A12Z-10	TCGA-CC-A1HT-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6b25a78f-20dc-4ccc-b4c0-f9885d16725d	0255f601-3be9-4059-9d36-7f666977eff0	g.chr11:61537931C>T	ENST00000278836.5	+	5	770	c.674C>T	c.(673-675)cCc>cTc	p.P225L	TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000265460.5_Missense_Mutation_p.P216L	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor	225	Pro-rich.				central nervous system myelin maintenance (GO:0032286)|central nervous system myelination (GO:0022010)|oligodendrocyte development (GO:0014003)|oligodendrocyte differentiation (GO:0048709)|positive regulation of myelination (GO:0031643)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)										GGGCTGGTGCCCACTGATCTT	0.652																																					p.P225L		Atlas-SNP	.											.	.	.	.	0			c.C674T						.						13.0	12.0	12.0					11																	61537931		2180	4256	6436	SO:0001583	missense	745	exon5			TGGTGCCCACTGA		CCDS31579.1, CCDS44622.1	11q12-q13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000124920	ENSG00000124920			1181	protein-coding gene	gene with protein product	"""myelin gene regulatory factor"""	608329	"""chromosome 11 open reading frame 9"""	C11orf9		10828591, 12384578	Standard	NM_001127392		Approved	Ndt80, pqn-47, MRF	uc001nsc.1	Q9Y2G1	OTTHUMG00000168161	ENST00000278836.5:c.674C>T	chr11.hg19:g.61537931C>T	ENSP00000278836:p.Pro225Leu	278.0	0.0		363.0	37.0	NM_001127392	O43582|Q9P1Q6	Missense_Mutation	SNP	ENST00000278836.5	hg19	CCDS44622.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.156698	0.78114	.	.	ENSG00000124920	ENST00000278836;ENST00000265460	T;T	0.36520	1.25;1.28	4.35	4.35	0.52113	.	0.247105	0.41294	D	0.000915	T	0.44095	0.1277	N	0.24115	0.695	0.80722	D	1	D;D	0.76494	0.999;0.999	P;P	0.62184	0.899;0.895	T	0.45160	-0.9280	10	0.51188	T	0.08	-29.57	17.4499	0.87589	0.0:1.0:0.0:0.0	.	216;225	Q9Y2G1-2;Q9Y2G1	.;MRF_HUMAN	L	225;216	ENSP00000278836:P225L;ENSP00000265460:P216L	ENSP00000265460:P216L	P	+	2	0	C11orf9	61294507	0.979000	0.34478	0.977000	0.42913	0.972000	0.66771	5.193000	0.65120	2.430000	0.82344	0.491000	0.48974	CCC	.	.		0.652	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398519.2	NM_013279	
FAT3	120114	hgsc.bcm.edu	37	11	92085831	92085831	+	Missense_Mutation	SNP	G	G	T			TCGA-CC-A1HT-01A-11D-A12Z-10	TCGA-CC-A1HT-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6b25a78f-20dc-4ccc-b4c0-f9885d16725d	0255f601-3be9-4059-9d36-7f666977eff0	g.chr11:92085831G>T	ENST00000298047.6	+	1	570	c.553G>T	c.(553-555)Gca>Tca	p.A185S	FAT3_ENST00000409404.2_Missense_Mutation_p.A185S|FAT3_ENST00000541502.1_Missense_Mutation_p.A185S|FAT3_ENST00000525166.1_Missense_Mutation_p.A35S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	185	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A185T(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGCAACAGACGCAGATATTGG	0.428										TCGA Ovarian(4;0.039)																											p.A185S		Atlas-SNP	.											FAT3_ENST00000409404,NS,carcinoma,0,2	FAT3	1822	.	2	Substitution - Missense(2)	endometrium(2)	c.G553T						.						60.0	60.0	60.0					11																	92085831		1866	4110	5976	SO:0001583	missense	120114	exon1			ACAGACGCAGATA	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.553G>T	chr11.hg19:g.92085831G>T	ENSP00000298047:p.Ala185Ser	108.0	0.0		86.0	14.0	NM_001008781	B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	hg19		.	.	.	.	.	.	.	.	.	.	G	21.6	4.180161	0.78564	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	T;T;T;T	0.61859	0.07;0.07;0.07;0.07	5.26	5.26	0.73747	.	.	.	.	.	T	0.74696	0.3750	M	0.67397	2.05	0.54753	D	0.999981	D	0.89917	1.0	D	0.91635	0.999	T	0.73084	-0.4094	9	0.39692	T	0.17	.	18.2264	0.89918	0.0:0.0:1.0:0.0	.	185	Q8TDW7-3	.	S	185;185;185;35	ENSP00000298047:A185S;ENSP00000387040:A185S;ENSP00000443786:A185S;ENSP00000432586:A35S	ENSP00000298047:A185S	A	+	1	0	FAT3	91725479	1.000000	0.71417	0.998000	0.56505	0.797000	0.45037	9.787000	0.99055	2.607000	0.88179	0.655000	0.94253	GCA	.	.		0.428	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781	
GRIA4	2893	hgsc.bcm.edu	37	11	105842667	105842667	+	Missense_Mutation	SNP	A	A	C			TCGA-CC-A1HT-01A-11D-A12Z-10	TCGA-CC-A1HT-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6b25a78f-20dc-4ccc-b4c0-f9885d16725d	0255f601-3be9-4059-9d36-7f666977eff0	g.chr11:105842667A>C	ENST00000530497.1	+	14	2321	c.2321A>C	c.(2320-2322)aAa>aCa	p.K774T	GRIA4_ENST00000393127.2_Intron|RNU6-277P_ENST00000516272.1_RNA|GRIA4_ENST00000525187.1_Intron|GRIA4_ENST00000282499.5_Missense_Mutation_p.K774T|GRIA4_ENST00000533094.1_Intron			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	774					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		GCCGTTTTGAAACTCAGTGAG	0.383																																					p.K774T		Atlas-SNP	.											.	GRIA4	380	.	0			c.A2321C						.						91.0	89.0	90.0					11																	105842667		2201	4299	6500	SO:0001583	missense	2893	exon15			TTTTGAAACTCAG	U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.2321A>C	chr11.hg19:g.105842667A>C	ENSP00000435775:p.Lys774Thr	164.0	0.0		201.0	40.0	NM_000829	Q86XE8	Missense_Mutation	SNP	ENST00000530497.1	hg19	CCDS8333.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.3|20.3	3.963841|3.963841	0.74131|0.74131	.|.	.|.	ENSG00000152578|ENSG00000152578	ENST00000539249|ENST00000282499;ENST00000530497	.|T;T	.|0.40225	.|1.04;1.04	5.55|5.55	5.55|5.55	0.83447|0.83447	.|Ionotropic glutamate receptor (2);	.|0.000000	.|0.64402	.|D	.|0.000002	T|T	0.43144|0.43144	0.1234|0.1234	L|L	0.37850|0.37850	1.14|1.14	0.80722|0.80722	D|D	1|1	.|P	.|0.46395	.|0.877	.|P	.|0.46885	.|0.53	T|T	0.43228|0.43228	-0.9404|-0.9404	6|10	0.16896|0.87932	T|D	0.51|0	.|.	15.7049|15.7049	0.77569|0.77569	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|774	.|P48058	.|GRIA4_HUMAN	D|T	117|774	.|ENSP00000282499:K774T;ENSP00000435775:K774T	ENSP00000440835:E117D|ENSP00000282499:K774T	E|K	+|+	3|2	2|0	GRIA4|GRIA4	105347877|105347877	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.307000|9.307000	0.96226|0.96226	2.117000|2.117000	0.64856|0.64856	0.533000|0.533000	0.62120|0.62120	GAA|AAA	.	.		0.383	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1		
NTF3	4908	hgsc.bcm.edu	37	12	5603521	5603521	+	Silent	SNP	G	G	A			TCGA-CC-A1HT-01A-11D-A12Z-10	TCGA-CC-A1HT-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6b25a78f-20dc-4ccc-b4c0-f9885d16725d	0255f601-3be9-4059-9d36-7f666977eff0	g.chr12:5603521G>A	ENST00000331010.6	+	1	224	c.141G>A	c.(139-141)aaG>aaA	p.K47K	NTF3_ENST00000423158.3_Silent_p.K60K|NTF3_ENST00000535299.1_Intron	NM_002527.4	NP_002518.1	P20783	NTF3_HUMAN	neurotrophin 3	47					activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell-cell signaling (GO:0007267)|enteric nervous system development (GO:0048484)|epidermis development (GO:0008544)|glial cell fate determination (GO:0007403)|induction of positive chemotaxis (GO:0050930)|mechanoreceptor differentiation (GO:0042490)|myelination (GO:0042552)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|nerve development (GO:0021675)|nervous system development (GO:0007399)|neuromuscular synaptic transmission (GO:0007274)|peripheral nervous system development (GO:0007422)|positive chemotaxis (GO:0050918)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of glial cell differentiation (GO:0045687)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of synaptic transmission (GO:0050804)|signal transduction (GO:0007165)|smooth muscle cell differentiation (GO:0051145)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular region (GO:0005576)	chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|receptor binding (GO:0005102)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						TGAAAAACAAGCTCTCCAAGC	0.517																																					p.K60K	GBM(194;1104 2182 8339 9578 18493)	Atlas-SNP	.											.	NTF3	50	.	0			c.G180A						.						88.0	91.0	90.0					12																	5603521		2203	4300	6503	SO:0001819	synonymous_variant	4908	exon2			AAACAAGCTCTCC		CCDS8538.1, CCDS44806.1	12p13	2014-01-30			ENSG00000185652	ENSG00000185652		"""Endogenous ligands"""	8023	protein-coding gene	gene with protein product		162660				1889806	Standard	NM_002527		Approved	NGF2	uc001qnk.4	P20783	OTTHUMG00000168649	ENST00000331010.6:c.141G>A	chr12.hg19:g.5603521G>A		68.0	0.0		54.0	10.0	NM_001102654	B7Z1T5|Q6FH50	Silent	SNP	ENST00000331010.6	hg19	CCDS8538.1																																																																																			.	.		0.517	NTF3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400486.1		
SLC2A14	144195	hgsc.bcm.edu	37	12	7967043	7967043	+	Missense_Mutation	SNP	G	G	A			TCGA-CC-A1HT-01A-11D-A12Z-10	TCGA-CC-A1HT-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6b25a78f-20dc-4ccc-b4c0-f9885d16725d	0255f601-3be9-4059-9d36-7f666977eff0	g.chr12:7967043G>A	ENST00000543909.1	-	16	2191	c.1432C>T	c.(1432-1434)Cgt>Tgt	p.R478C	SLC2A14_ENST00000340749.5_Missense_Mutation_p.R455C|SLC2A14_ENST00000539924.1_Missense_Mutation_p.R493C|SLC2A14_ENST00000431042.2_Missense_Mutation_p.R455C|SLC2A14_ENST00000542505.1_Missense_Mutation_p.R119C|SLC2A14_ENST00000535295.1_Missense_Mutation_p.R369C|SLC2A14_ENST00000396589.2_Missense_Mutation_p.R478C|SLC2A14_ENST00000542546.1_Missense_Mutation_p.R369C			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	478					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	glucose transmembrane transporter activity (GO:0005355)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		GTCCTGCCACGGGTCTCAGGG	0.498													G|||	1	0.000199681	0.0008	0.0	5008	,	,		-128	0.0		0.0	False		,,,				2504	0.0				p.R478C		Atlas-SNP	.											.	SLC2A14	78	.	0			c.C1432T						.						79.0	71.0	74.0					12																	7967043		2203	4300	6503	SO:0001583	missense	144195	exon12			TGCCACGGGTCTC	AF481878	CCDS8585.1, CCDS66300.1, CCDS66301.1, CCDS66302.1	12p13.31	2013-07-15			ENSG00000173262	ENSG00000173262		"""Solute carriers"""	18301	protein-coding gene	gene with protein product		611039	"""solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 3"""	SLC2A3P3		12504846	Standard	NM_001286234		Approved	GLUT14	uc001qtn.3	Q8TDB8	OTTHUMG00000168463	ENST00000543909.1:c.1432C>T	chr12.hg19:g.7967043G>A	ENSP00000440480:p.Arg478Cys	202.0	0.0		195.0	15.0	NM_153449	B3KVB5|B3KWW7|B7Z844|B7ZAC3|Q6UY84|Q8TDB9	Missense_Mutation	SNP	ENST00000543909.1	hg19	CCDS8585.1	.	.	.	.	.	.	.	.	.	.	G	14.54	2.567354	0.45694	.	.	ENSG00000173262	ENST00000340749;ENST00000543909;ENST00000431042;ENST00000542505;ENST00000396589;ENST00000535295;ENST00000542546;ENST00000539924	T;T;T;T;T;T;T;T	0.74209	-0.82;-0.82;-0.82;-0.82;-0.82;-0.82;-0.82;-0.82	3.81	1.64	0.23874	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.264168	0.34484	N	0.003935	T	0.74794	0.3763	M	0.88906	2.99	0.43191	D	0.995025	P;B;B;B	0.37276	0.589;0.435;0.381;0.108	B;B;B;B	0.36244	0.168;0.12;0.073;0.22	T	0.76141	-0.3068	10	0.87932	D	0	.	8.9369	0.35706	0.0:0.0:0.4245:0.5754	.	493;369;455;478	B7ZAC3;B7Z844;Q8TDB8-2;Q8TDB8	.;.;.;GTR14_HUMAN	C	455;478;455;119;478;369;369;493	ENSP00000340450:R455C;ENSP00000440480:R478C;ENSP00000407287:R455C;ENSP00000438484:R119C;ENSP00000379834:R478C;ENSP00000440492:R369C;ENSP00000443903:R369C;ENSP00000445929:R493C	ENSP00000340450:R455C	R	-	1	0	SLC2A14	7858310	0.997000	0.39634	0.999000	0.59377	0.989000	0.77384	3.098000	0.50259	0.643000	0.30638	0.460000	0.39030	CGT	.	.		0.498	SLC2A14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399836.2	NM_153449	
FLT1	2321	hgsc.bcm.edu	37	13	28883065	28883065	+	Splice_Site	SNP	C	C	G			TCGA-CC-A1HT-01A-11D-A12Z-10	TCGA-CC-A1HT-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6b25a78f-20dc-4ccc-b4c0-f9885d16725d	0255f601-3be9-4059-9d36-7f666977eff0	g.chr13:28883065C>G	ENST00000282397.4	-	28	3887		c.e28-1		FLT1_ENST00000543394.1_Splice_Site|FLT1_ENST00000540678.1_Splice_Site	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1						blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	ATTTACGTATCTAATGAAGAA	0.403																																					.		Atlas-SNP	.											.	FLT1	393	.	0			c.3636-1G>C						.						79.0	67.0	71.0					13																	28883065		2203	4300	6503	SO:0001630	splice_region_variant	2321	exon29			ACGTATCTAATGA	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.3636-1G>C	chr13.hg19:g.28883065C>G		71.0	0.0		67.0	8.0	NM_002019	A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Splice_Site	SNP	ENST00000282397.4	hg19	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	C	15.00	2.703649	0.48412	.	.	ENSG00000102755	ENST00000282397;ENST00000543394;ENST00000540678	.	.	.	5.11	5.11	0.69529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8181	0.78621	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FLT1	27781065	1.000000	0.71417	0.996000	0.52242	0.583000	0.36354	4.400000	0.59709	2.551000	0.86045	0.561000	0.74099	.	.	.		0.403	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1		Intron
DACH1	1602	hgsc.bcm.edu	37	13	72204825	72204825	+	Missense_Mutation	SNP	G	G	T			TCGA-CC-A1HT-01A-11D-A12Z-10	TCGA-CC-A1HT-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6b25a78f-20dc-4ccc-b4c0-f9885d16725d	0255f601-3be9-4059-9d36-7f666977eff0	g.chr13:72204825G>T	ENST00000359684.2	-	3	994	c.995C>A	c.(994-996)gCt>gAt	p.A332D	DACH1_ENST00000305425.4_Missense_Mutation_p.A332D|DACH1_ENST00000354591.4_Intron|DACH1_ENST00000313174.7_Missense_Mutation_p.A332D			Q9UI36	DACH1_HUMAN	dachshund family transcription factor 1	332	Interaction with SIX6 and HDAC3. {ECO:0000250}.|Poly-Ala.				cell proliferation (GO:0008283)|development of primary female sexual characteristics (GO:0046545)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription by competitive promoter binding (GO:0010944)|respiratory gaseous exchange (GO:0007585)|suckling behavior (GO:0001967)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity involved in preinitiation complex assembly (GO:0001075)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		agcagcagcagctgctgcagc	0.373																																					p.A332D		Atlas-SNP	.											.	DACH1	123	.	0			c.C995A						.						99.0	89.0	92.0					13																	72204825		1802	4069	5871	SO:0001583	missense	1602	exon3			GCAGCAGCTGCTG	AJ005670	CCDS41899.1, CCDS53874.1, CCDS53873.1	13q22	2014-02-03	2014-02-03	2004-04-02	ENSG00000165659	ENSG00000276644			2663	protein-coding gene	gene with protein product		603803	"""dachshund homolog (Drosophila)"", ""dachshund homolog 1 (Drosophila)"""	DACH		9933575, 10395809, 15057823	Standard	NM_004392		Approved		uc021rkj.1	Q9UI36	OTTHUMG00000017063	ENST00000359684.2:c.995C>A	chr13.hg19:g.72204825G>T	ENSP00000352712:p.Ala332Asp	100.0	0.0		118.0	39.0	NM_080759	D0FY35|D0FY36|O75523|O75687|Q5VYY3|Q5VYY4|Q96SG3|Q96SG4|Q9H524|Q9UMH4	Missense_Mutation	SNP	ENST00000359684.2	hg19		.	.	.	.	.	.	.	.	.	.	G	32	5.168386	0.94768	.	.	ENSG00000165659	ENST00000305425;ENST00000313174;ENST00000359684;ENST00000377826	T;T;T	0.36520	1.25;1.35;1.29	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.57489	0.2057	L	0.47716	1.5	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.53802	-0.8387	10	0.72032	D	0.01	-10.5268	20.4702	0.99162	0.0:0.0:1.0:0.0	.	330;330	Q9UI36-3;Q9UI36-2	.;.	D	332	ENSP00000304994:A332D;ENSP00000318506:A332D;ENSP00000352712:A332D	ENSP00000304994:A332D	A	-	2	0	DACH1	71102826	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.357000	0.97099	2.937000	0.99478	0.650000	0.86243	GCT	.	.		0.373	DACH1-002	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045240.1	NM_004392	
ATG14	22863	hgsc.bcm.edu	37	14	55848812	55848812	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CC-A1HT-01A-11D-A12Z-10	TCGA-CC-A1HT-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6b25a78f-20dc-4ccc-b4c0-f9885d16725d	0255f601-3be9-4059-9d36-7f666977eff0	g.chr14:55848812G>A	ENST00000247178.5	-	6	780	c.745C>T	c.(745-747)Cga>Tga	p.R249*		NM_014924.4	NP_055739.2	Q6ZNE5	BAKOR_HUMAN	autophagy related 14	249					autophagic vacuole assembly (GO:0000045)|endosome to lysosome transport (GO:0008333)|positive regulation of autophagy (GO:0010508)	autophagic vacuole (GO:0005776)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|pre-autophagosomal structure membrane (GO:0034045)				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(2)	13						CAGACCCATCGTCCTGAGAGG	0.537																																					p.R249X		Atlas-SNP	.											.	ATG14	36	.	0			c.C745T						.						189.0	158.0	169.0					14																	55848812		2203	4300	6503	SO:0001587	stop_gained	22863	exon6			CCCATCGTCCTGA	AB020638	CCDS32087.1	14q22.2	2014-02-12	2012-06-06	2010-06-29	ENSG00000126775	ENSG00000126775			19962	protein-coding gene	gene with protein product	"""Barkor"", ""beclin 1-associated autophagy-related key regulator"""	613515	"""KIAA0831"", ""ATG14 autophagy related 14 homolog (S. cerevisiae)"""	KIAA0831		18843052	Standard	NM_014924		Approved	ATG14L	uc001xbx.2	Q6ZNE5	OTTHUMG00000172129	ENST00000247178.5:c.745C>T	chr14.hg19:g.55848812G>A	ENSP00000247178:p.Arg249*	429.0	0.0		397.0	83.0	NM_014924	A6NJE4|A8K9U5|B7ZWP5|O94920|Q32MK7|Q32MK8	Nonsense_Mutation	SNP	ENST00000247178.5	hg19	CCDS32087.1	.	.	.	.	.	.	.	.	.	.	g	21.6	4.173478	0.78452	.	.	ENSG00000126775	ENST00000247178	.	.	.	5.87	-2.25	0.06888	.	0.054032	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.4068	12.222	0.54439	0.0779:0.0:0.4422:0.4799	.	.	.	.	X	249	.	ENSP00000247178:R249X	R	-	1	2	ATG14	54918565	0.981000	0.34729	0.231000	0.23993	0.631000	0.37964	1.067000	0.30616	-0.286000	0.09076	-0.142000	0.14014	CGA	.	.		0.537	ATG14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416992.1	NM_014924	
TP53BP1	7158	hgsc.bcm.edu	37	15	43749109	43749109	+	Missense_Mutation	SNP	G	G	C			TCGA-CC-A1HT-01A-11D-A12Z-10	TCGA-CC-A1HT-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6b25a78f-20dc-4ccc-b4c0-f9885d16725d	0255f601-3be9-4059-9d36-7f666977eff0	g.chr15:43749109G>C	ENST00000263801.3	-	12	1934	c.1682C>G	c.(1681-1683)cCt>cGt	p.P561R	TP53BP1_ENST00000605155.1_5'Flank|TP53BP1_ENST00000382039.3_Missense_Mutation_p.P566R|TP53BP1_ENST00000382044.4_Missense_Mutation_p.P566R|TP53BP1_ENST00000450115.2_Missense_Mutation_p.P566R	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	561					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		ATTTTCAGCAGGAACAAATTT	0.413								Other conserved DNA damage response genes																													p.P566R		Atlas-SNP	.											.	TP53BP1	157	.	0			c.C1697G						.						147.0	134.0	139.0					15																	43749109		2201	4298	6499	SO:0001583	missense	7158	exon12			TCAGCAGGAACAA	U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.1682C>G	chr15.hg19:g.43749109G>C	ENSP00000263801:p.Pro561Arg	204.0	0.0		174.0	34.0	NM_001141980	F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	ENST00000263801.3	hg19	CCDS10096.1	.	.	.	.	.	.	.	.	.	.	G	8.830	0.939737	0.18281	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115;ENST00000413546	T;T;T;T;T	0.16597	2.33;2.33;2.33;2.33;2.33	5.04	3.13	0.36017	.	0.321644	0.29995	N	0.010668	T	0.13200	0.0320	L	0.38838	1.175	0.31601	N	0.652675	B;B;B;B	0.09022	0.002;0.001;0.001;0.001	B;B;B;B	0.09377	0.004;0.001;0.003;0.003	T	0.05971	-1.0853	10	0.51188	T	0.08	-1.3124	8.7541	0.34635	0.0775:0.2843:0.6381:0.0	.	566;561;566;566	B7Z3E7;Q12888;Q12888-2;F8VY86	.;TP53B_HUMAN;.;.	R	561;566;566;566;566	ENSP00000263801:P561R;ENSP00000371475:P566R;ENSP00000371470:P566R;ENSP00000393497:P566R;ENSP00000388028:P566R	ENSP00000263801:P561R	P	-	2	0	TP53BP1	41536401	0.048000	0.20356	1.000000	0.80357	0.663000	0.39108	1.628000	0.37060	0.609000	0.30018	0.563000	0.77884	CCT	.	.		0.413	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3		
BNC1	646	hgsc.bcm.edu	37	15	83926506	83926506	+	Silent	SNP	A	A	G			TCGA-CC-A1HT-01A-11D-A12Z-10	TCGA-CC-A1HT-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6b25a78f-20dc-4ccc-b4c0-f9885d16725d	0255f601-3be9-4059-9d36-7f666977eff0	g.chr15:83926506A>G	ENST00000345382.2	-	5	2758	c.2673T>C	c.(2671-2673)gaT>gaC	p.D891D	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Silent_p.D884D	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	891					chromosome organization (GO:0051276)|epidermis development (GO:0008544)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						CACAGTTCCCATCACTGTCCT	0.557																																					p.D891D		Atlas-SNP	.											.	BNC1	149	.	0			c.T2673C						.						186.0	147.0	160.0					15																	83926506		2203	4300	6503	SO:0001819	synonymous_variant	646	exon5			GTTCCCATCACTG	L03427	CCDS10324.1, CCDS73771.1	15q25.1	2013-05-20	2004-04-30	2004-05-04	ENSG00000169594	ENSG00000169594		"""Zinc fingers, C2H2-type"""	1081	protein-coding gene	gene with protein product		601930	"""basonuclin"""	BNC		1332044	Standard	NM_001717		Approved	HsT19447	uc002bjt.1	Q01954	OTTHUMG00000147362	ENST00000345382.2:c.2673T>C	chr15.hg19:g.83926506A>G		84.0	0.0		90.0	23.0	NM_001717	Q15840	Silent	SNP	ENST00000345382.2	hg19	CCDS10324.1																																																																																			.	.		0.557	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304006.1	NM_001717	
CAPN15	6650	hgsc.bcm.edu	37	16	601376	601376	+	Missense_Mutation	SNP	G	G	A			TCGA-CC-A1HT-01A-11D-A12Z-10	TCGA-CC-A1HT-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6b25a78f-20dc-4ccc-b4c0-f9885d16725d	0255f601-3be9-4059-9d36-7f666977eff0	g.chr16:601376G>A	ENST00000219611.2	+	8	2504	c.2141G>A	c.(2140-2142)cGc>cAc	p.R714H	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1	O75808	CAN15_HUMAN	calpain 15	714	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										CTGGGCCTGCGCCCCCGGCAT	0.682																																					p.R714H		Atlas-SNP	.											.	SOLH	47	.	0			c.G2141A						.						52.0	61.0	58.0					16																	601376		2200	4297	6497	SO:0001583	missense	6650	exon8			GCCTGCGCCCCCG	U85647	CCDS10410.1	16p13.3	2013-06-27	2013-06-27	2013-06-27	ENSG00000103326	ENSG00000103326			11182	protein-coding gene	gene with protein product		603267	"""small optic lobes (Drosophila) homolog"", ""small optic lobes homolog (Drosophila)"""	SOLH		9722942	Standard	NM_005632		Approved		uc002chi.3	O75808	OTTHUMG00000119059	ENST00000219611.2:c.2141G>A	chr16.hg19:g.601376G>A	ENSP00000219611:p.Arg714His	28.0	0.0		44.0	7.0	NM_005632	B1B1M4|Q2KHS2|Q8WTY9|Q9BUW0	Missense_Mutation	SNP	ENST00000219611.2	hg19	CCDS10410.1	.	.	.	.	.	.	.	.	.	.	g	29.2	4.989237	0.93106	.	.	ENSG00000103326	ENST00000219611	D	0.87809	-2.3	5.36	5.36	0.76844	Peptidase C2, calpain, catalytic domain (3);	0.000000	0.85682	D	0.000000	D	0.91774	0.7398	L	0.49256	1.55	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92401	0.5929	10	0.72032	D	0.01	.	17.6567	0.88180	0.0:0.0:1.0:0.0	.	714	O75808	CAN15_HUMAN	H	714	ENSP00000219611:R714H	ENSP00000219611:R714H	R	+	2	0	SOLH	541377	1.000000	0.71417	0.995000	0.50966	0.793000	0.44817	9.745000	0.98856	2.509000	0.84616	0.556000	0.70494	CGC	.	.		0.682	CAPN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239271.1	NM_005632	
HYDIN	54768	hgsc.bcm.edu	37	16	70884548	70884548	+	Missense_Mutation	SNP	C	C	T			TCGA-CC-A1HT-01A-11D-A12Z-10	TCGA-CC-A1HT-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6b25a78f-20dc-4ccc-b4c0-f9885d16725d	0255f601-3be9-4059-9d36-7f666977eff0	g.chr16:70884548C>T	ENST00000393567.2	-	74	12604	c.12454G>A	c.(12454-12456)Gat>Aat	p.D4152N	RNU6ATAC25P_ENST00000408798.1_RNA	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4152					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AAGAAAATATCAATTGGGAAC	0.398																																					p.D4152N		Atlas-SNP	.											.	HYDIN	788	.	0			c.G12454A						.						53.0	47.0	49.0					16																	70884548		1846	4095	5941	SO:0001583	missense	54768	exon74			AAATATCAATTGG	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.12454G>A	chr16.hg19:g.70884548C>T	ENSP00000377197:p.Asp4152Asn	162.0	0.0		134.0	20.0	NM_001270974	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	hg19	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	C	16.00	2.997662	0.54147	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.00882	5.58	5.56	4.6	0.57074	.	0.982987	0.08228	U	0.978048	T	0.01835	0.0058	L	0.56769	1.78	0.80722	D	1	P	0.42337	0.776	P	0.48598	0.583	T	0.60352	-0.7280	10	0.12430	T	0.62	.	4.0023	0.09585	0.2125:0.6206:0.0:0.1669	.	4151	F8WD23	.	N	4152;4151	ENSP00000377197:D4152N	ENSP00000313052:D4151N	D	-	1	0	HYDIN	69442049	0.988000	0.35896	1.000000	0.80357	0.936000	0.57629	1.568000	0.36418	2.615000	0.88500	0.511000	0.50034	GAT	.	.		0.398	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3		
TP53	7157	hgsc.bcm.edu	37	17	7578555	7578555	+	Splice_Site	SNP	C	C	T			TCGA-CC-A1HT-01A-11D-A12Z-10	TCGA-CC-A1HT-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6b25a78f-20dc-4ccc-b4c0-f9885d16725d	0255f601-3be9-4059-9d36-7f666977eff0	g.chr17:7578555C>T	ENST00000269305.4	-	5	565		c.e5-1		TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(39)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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)	CAGGGGAGTACTGTAGGAAGA	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											.	Pancreas(47;798 1329 9957 10801)	Atlas-SNP	.	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	TP53_ENST00000545858,NS,carcinoma,0,58	TP53	33396	.	51	Unknown(39)|Whole gene deletion(8)|Deletion - Frameshift(3)|Insertion - In frame(1)	ovary(9)|pancreas(6)|bone(5)|upper_aerodigestive_tract(4)|liver(4)|lung(4)|breast(4)|large_intestine(3)|central_nervous_system(3)|oesophagus(3)|haematopoietic_and_lymphoid_tissue(2)|stomach(1)|endometrium(1)|urinary_tract(1)|autonomic_ganglia(1)	c.376-1G>A						.						42.0	42.0	42.0					17																	7578555		2203	4300	6503	SO:0001630	splice_region_variant	7157	exon6	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;	GGAGTACTGTAGG	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.376-1G>A	chr17.hg19:g.7578555C>T		56.0	0.0		50.0	8.0	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	Splice_Site	SNP	ENST00000269305.4	hg19	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.431133	0.62844	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793;ENST00000503591	.	.	.	4.87	3.9	0.45041	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.4246	0.50003	0.0:0.9094:0.0:0.0906	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7519280	1.000000	0.71417	0.999000	0.59377	0.918000	0.54935	7.639000	0.83342	1.359000	0.45940	0.655000	0.94253	.	.	.		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron
KRT14	3861	hgsc.bcm.edu	37	17	39742690	39742690	+	Missense_Mutation	SNP	C	C	T	rs61027685		TCGA-CC-A1HT-01A-11D-A12Z-10	TCGA-CC-A1HT-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6b25a78f-20dc-4ccc-b4c0-f9885d16725d	0255f601-3be9-4059-9d36-7f666977eff0	g.chr17:39742690C>T	ENST00000167586.6	-	1	483	c.397G>A	c.(397-399)Gtg>Atg	p.V133M		NM_000526.4	NP_000517	P02533	K1C14_HUMAN	keratin 14	133	Coil 1A.|Rod.		V -> A (in dbSNP:rs642601).|V -> L (in WC-EBS and K-EBS; dbSNP:rs61027685). {ECO:0000269|PubMed:14987259, ECO:0000269|PubMed:16786515}.		aging (GO:0007568)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|epithelial cell differentiation (GO:0030855)|hair cycle (GO:0042633)|hemidesmosome assembly (GO:0031581)|intermediate filament bundle assembly (GO:0045110)|response to ionizing radiation (GO:0010212)|response to zinc ion (GO:0010043)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	keratin filament binding (GO:1990254)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				AGAGCACGCACCTTGTCCAGG	0.582																																					p.V133M		Atlas-SNP	.											.	KRT14	65	.	0			c.G397A	GRCh37	CM044653|CM055346|CM070974	KRT14	M	rs61027685	.						136.0	142.0	140.0					17																	39742690		2203	4296	6499	SO:0001583	missense	3861	exon1			CACGCACCTTGTC	BC002690	CCDS11400.1	17q21.2	2013-06-20	2008-09-19		ENSG00000186847	ENSG00000186847		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6416	protein-coding gene	gene with protein product	"""epidermolysis bullosa simplex, Dowling-Meara, Koebner"""	148066	"""keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)"""	EBS3, EBS4		1717157, 16831889	Standard	NM_000526		Approved		uc002hxf.2	P02533	OTTHUMG00000133426	ENST00000167586.6:c.397G>A	chr17.hg19:g.39742690C>T	ENSP00000167586:p.Val133Met	200.0	0.0		225.0	48.0	NM_000526	Q14715|Q53XY3|Q9BUE3|Q9UBN2|Q9UBN3|Q9UCY4	Missense_Mutation	SNP	ENST00000167586.6	hg19	CCDS11400.1	.	.	.	.	.	.	.	.	.	.	C	32	5.121927	0.94429	.	.	ENSG00000186847	ENST00000167586	D	0.95885	-3.84	4.98	4.98	0.66077	Filament (1);	0.000000	0.47455	D	0.000240	D	0.98598	0.9531	H	0.97659	4.05	0.80722	D	1	D	0.61080	0.989	D	0.67382	0.951	D	0.99601	1.0978	10	0.66056	D	0.02	.	18.6154	0.91300	0.0:1.0:0.0:0.0	.	133	P02533	K1C14_HUMAN	M	133	ENSP00000167586:V133M	ENSP00000167586:V133M	V	-	1	0	KRT14	36996216	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.757000	0.85209	2.472000	0.83506	0.448000	0.29417	GTG	.	.		0.582	KRT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257289.1	NM_000526	
CNTD1	124817	hgsc.bcm.edu	37	17	40961398	40961398	+	Missense_Mutation	SNP	C	C	A			TCGA-CC-A1HT-01A-11D-A12Z-10	TCGA-CC-A1HT-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6b25a78f-20dc-4ccc-b4c0-f9885d16725d	0255f601-3be9-4059-9d36-7f666977eff0	g.chr17:40961398C>A	ENST00000588408.1	+	7	1114	c.838C>A	c.(838-840)Cag>Aag	p.Q280K	CNTD1_ENST00000588527.1_Missense_Mutation_p.Q197K|CNTD1_ENST00000315066.5_3'UTR	NM_173478.2	NP_775749.2	Q8N815	CNTD1_HUMAN	cyclin N-terminal domain containing 1	280										central_nervous_system(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		GGGGCATTTGCAGAGCATCAC	0.438																																					p.Q280K		Atlas-SNP	.											.	CNTD1	22	.	0			c.C838A						.						135.0	128.0	130.0					17																	40961398		2203	4300	6503	SO:0001583	missense	124817	exon7			CATTTGCAGAGCA	AK097456	CCDS11440.1	17q21.31	2014-07-03	2006-03-31	2006-03-31	ENSG00000176563	ENSG00000176563			26847	protein-coding gene	gene with protein product			"""cyclin N-terminal domain containing"""	CNTD		24891606	Standard	NM_173478		Approved	FLJ40137	uc002ibm.4	Q8N815		ENST00000588408.1:c.838C>A	chr17.hg19:g.40961398C>A	ENSP00000465204:p.Gln280Lys	207.0	0.0		220.0	42.0	NM_173478	Q658Q6|Q8NEP1	Missense_Mutation	SNP	ENST00000588408.1	hg19	CCDS11440.1	.	.	.	.	.	.	.	.	.	.	C	5.742	0.321308	0.10845	.	.	ENSG00000176563	ENST00000315066	.	.	.	6.03	6.03	0.97812	.	0.192857	0.56097	D	0.000034	T	0.37679	0.1012	L	0.36672	1.1	0.32552	N	0.532304	B	0.23937	0.094	B	0.19666	0.026	T	0.35525	-0.9785	9	0.02654	T	1	-7.9759	12.2136	0.54394	0.132:0.7405:0.1275:0.0	.	280	Q8N815	CNTD1_HUMAN	K	280	.	ENSP00000316647:Q280K	Q	+	1	0	CNTD1	38214924	1.000000	0.71417	1.000000	0.80357	0.827000	0.46813	2.324000	0.43831	2.868000	0.98415	0.555000	0.69702	CAG	.	.		0.438	CNTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452398.1	NM_173478	
CDR2L	30850	hgsc.bcm.edu	37	17	72998268	72998268	+	Missense_Mutation	SNP	C	C	T	rs529209429		TCGA-CC-A1HT-01A-11D-A12Z-10	TCGA-CC-A1HT-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6b25a78f-20dc-4ccc-b4c0-f9885d16725d	0255f601-3be9-4059-9d36-7f666977eff0	g.chr17:72998268C>T	ENST00000337231.5	+	4	863	c.451C>T	c.(451-453)Cgc>Tgc	p.R151C		NM_014603.2	NP_055418.2	Q86X02	CDR2L_HUMAN	cerebellar degeneration-related protein 2-like	151												all_lung(278;0.226)					GAAGCGGGAACGCAGGCGTAC	0.642													C|||	1	0.000199681	0.0	0.0	5008	,	,		17825	0.0		0.001	False		,,,				2504	0.0				p.R151C		Atlas-SNP	.											HUMPPA,NS,carcinoma,0,1	.	.	.	0			c.C451T						.						67.0	49.0	56.0					17																	72998268		2203	4299	6502	SO:0001583	missense	30850	exon4			CGGGAACGCAGGC		CCDS11710.2	17q25.1	2006-03-28			ENSG00000109089	ENSG00000109089			29999	protein-coding gene	gene with protein product	"""paraneoplastic antigen"""						Standard	NM_014603		Approved	HUMPPA	uc002jml.4	Q86X02	OTTHUMG00000150435	ENST00000337231.5:c.451C>T	chr17.hg19:g.72998268C>T	ENSP00000336587:p.Arg151Cys	39.0	0.0		80.0	18.0	NM_014603	B4DFA7|Q15175	Missense_Mutation	SNP	ENST00000337231.5	hg19	CCDS11710.2	.	.	.	.	.	.	.	.	.	.	C	23.7	4.448746	0.84101	.	.	ENSG00000109089	ENST00000337231	T	0.50813	0.73	5.22	4.2	0.49525	.	0.000000	0.85682	D	0.000000	T	0.67970	0.2950	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71938	-0.4441	10	0.72032	D	0.01	-24.4178	13.7862	0.63110	0.2953:0.7047:0.0:0.0	.	151	Q86X02	CDR2L_HUMAN	C	151	ENSP00000336587:R151C	ENSP00000336587:R151C	R	+	1	0	CDR2L	70509863	0.949000	0.32298	0.984000	0.44739	0.996000	0.88848	1.774000	0.38573	2.609000	0.88269	0.563000	0.77884	CGC	.	.		0.642	CDR2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318080.1	NM_014603	
LLGL2	3993	hgsc.bcm.edu	37	17	73569581	73569581	+	Silent	SNP	C	C	G	rs144386071	byFrequency	TCGA-CC-A1HT-01A-11D-A12Z-10	TCGA-CC-A1HT-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6b25a78f-20dc-4ccc-b4c0-f9885d16725d	0255f601-3be9-4059-9d36-7f666977eff0	g.chr17:73569581C>G	ENST00000392550.3	+	21	2862	c.2745C>G	c.(2743-2745)ccC>ccG	p.P915P	LLGL2_ENST00000577200.1_Silent_p.P915P|LLGL2_ENST00000167462.5_Silent_p.P915P	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	915					cell cycle (GO:0007049)|cell division (GO:0051301)|exocytosis (GO:0006887)|regulation of establishment or maintenance of cell polarity (GO:0032878)	cytoplasm (GO:0005737)	PDZ domain binding (GO:0030165)			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			TGATCTCACCCTCGGAGTTTG	0.637																																					p.P915P		Atlas-SNP	.											.	LLGL2	155	.	0			c.C2745G						.						90.0	93.0	92.0					17																	73569581		2203	4299	6502	SO:0001819	synonymous_variant	3993	exon21			CTCACCCTCGGAG	X87342	CCDS11725.1, CCDS32733.1, CCDS45776.1	17q25.1	2013-01-10	2001-11-28			ENSG00000073350		"""WD repeat domain containing"""	6629	protein-coding gene	gene with protein product			"""lethal giant larvae (Drosophila) homolog 2"""				Standard	XR_243659		Approved	HGL	uc002joh.3	Q6P1M3		ENST00000392550.3:c.2745C>G	chr17.hg19:g.73569581C>G		224.0	0.0		254.0	40.0	NM_004524	Q14521|Q9BR62	Silent	SNP	ENST00000392550.3	hg19	CCDS32733.1																																																																																			.	C|0.997;T|0.003		0.637	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447633.1	NM_004524	
ARHGEF18	23370	hgsc.bcm.edu	37	19	7505118	7505118	+	Missense_Mutation	SNP	T	T	A			TCGA-CC-A1HT-01A-11D-A12Z-10	TCGA-CC-A1HT-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6b25a78f-20dc-4ccc-b4c0-f9885d16725d	0255f601-3be9-4059-9d36-7f666977eff0	g.chr19:7505118T>A	ENST00000359920.6	+	1	545	c.292T>A	c.(292-294)Tcc>Acc	p.S98T	ARHGEF18_ENST00000319670.9_Intron|CTD-2207O23.3_ENST00000593531.1_Intron	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	98					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transforming growth factor beta receptor signaling pathway (GO:0007179)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				GCTGCTGACCTCCAAGATCCT	0.637																																					p.S98T		Atlas-SNP	.											.	ARHGEF18	129	.	0			c.T292A						.						27.0	33.0	31.0					19																	7505118		692	1591	2283	SO:0001583	missense	23370	exon1			CTGACCTCCAAGA	AK074372	CCDS12177.1, CCDS45946.1	19p13.3	2013-01-10	2009-06-12			ENSG00000104880		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	17090	protein-coding gene	gene with protein product	"""Rho-specific guanine nucleotide exchange factor p114"""		"""rho/rac guanine nucleotide exchange factor (GEF) 18"""			9628581, 11318610	Standard	NM_015318		Approved	P114-RhoGEF, KIAA0521, MGC15913	uc002mgi.3	Q6ZSZ5		ENST00000359920.6:c.292T>A	chr19.hg19:g.7505118T>A	ENSP00000352995:p.Ser98Thr	109.0	0.0		111.0	17.0	NM_001130955	A8MV62|B5ME81|O60274|Q6DD92	Missense_Mutation	SNP	ENST00000359920.6	hg19	CCDS45946.1	.	.	.	.	.	.	.	.	.	.	T	15.32	2.799354	0.50208	.	.	ENSG00000104880	ENST00000359920	T	0.34275	1.37	5.43	4.41	0.53225	.	0.178690	0.27008	N	0.021398	T	0.22360	0.0539	N	0.17082	0.46	0.80722	D	1	B	0.13145	0.007	B	0.09377	0.004	T	0.03403	-1.1040	10	0.38643	T	0.18	-15.3691	10.0409	0.42158	0.1508:0.0:0.0:0.8492	.	98	Q6ZSZ5	ARHGI_HUMAN	T	98	ENSP00000352995:S98T	ENSP00000352995:S98T	S	+	1	0	ARHGEF18	7411118	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.697000	0.47060	0.877000	0.35895	0.459000	0.35465	TCC	.	.		0.637	ARHGEF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436340.1	NM_015318	
MUC16	94025	hgsc.bcm.edu	37	19	9024161	9024161	+	Missense_Mutation	SNP	T	T	A			TCGA-CC-A1HT-01A-11D-A12Z-10	TCGA-CC-A1HT-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6b25a78f-20dc-4ccc-b4c0-f9885d16725d	0255f601-3be9-4059-9d36-7f666977eff0	g.chr19:9024161T>A	ENST00000397910.4	-	18	37314	c.37111A>T	c.(37111-37113)Act>Tct	p.T12371S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12373					cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAGGATGGAGTCCCTGAGGTT	0.468																																					p.T12371S		Atlas-SNP	.											.	MUC16	4315	.	0			c.A37111T						.						78.0	75.0	76.0					19																	9024161		1910	4124	6034	SO:0001583	missense	94025	exon18			ATGGAGTCCCTGA	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.37111A>T	chr19.hg19:g.9024161T>A	ENSP00000381008:p.Thr12371Ser	254.0	0.0		241.0	21.0	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	hg19	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	8.766	0.924672	0.18056	.	.	ENSG00000181143	ENST00000397910	T	0.01998	4.51	1.58	-1.68	0.08212	.	.	.	.	.	T	0.01905	0.0060	L	0.45137	1.4	.	.	.	P	0.35481	0.504	B	0.26614	0.071	T	0.37572	-0.9700	8	0.87932	D	0	.	4.7752	0.13175	0.0:0.4639:0.0:0.5361	.	12371	B5ME49	.	S	12371	ENSP00000381008:T12371S	ENSP00000381008:T12371S	T	-	1	0	MUC16	8885161	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	-4.046000	0.00306	-0.479000	0.06813	0.172000	0.16884	ACT	.	.		0.468	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	hgsc.bcm.edu	37	19	9048324	9048324	+	Missense_Mutation	SNP	T	T	G			TCGA-CC-A1HT-01A-11D-A12Z-10	TCGA-CC-A1HT-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6b25a78f-20dc-4ccc-b4c0-f9885d16725d	0255f601-3be9-4059-9d36-7f666977eff0	g.chr19:9048324T>G	ENST00000397910.4	-	5	33510	c.33307A>C	c.(33307-33309)Act>Cct	p.T11103P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11105	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGGAACTAGTGACCAGAGGG	0.522																																					p.T11103P		Atlas-SNP	.											.	MUC16	4315	.	0			c.A33307C						.						75.0	68.0	70.0					19																	9048324		1918	4137	6055	SO:0001583	missense	94025	exon5			AACTAGTGACCAG	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.33307A>C	chr19.hg19:g.9048324T>G	ENSP00000381008:p.Thr11103Pro	158.0	0.0		136.0	21.0	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	hg19	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	6.256	0.415281	0.11870	.	.	ENSG00000181143	ENST00000397910	T	0.02579	4.24	3.02	-2.62	0.06152	.	.	.	.	.	T	0.03651	0.0104	L	0.47716	1.5	.	.	.	B	0.31383	0.321	B	0.37304	0.246	T	0.34378	-0.9831	8	0.87932	D	0	.	5.8554	0.18716	0.0:0.1169:0.5372:0.3459	.	11103	B5ME49	.	P	11103	ENSP00000381008:T11103P	ENSP00000381008:T11103P	T	-	1	0	MUC16	8909324	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-0.936000	0.03946	-0.713000	0.04981	0.398000	0.26397	ACT	.	.		0.522	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
ZNF253	56242	hgsc.bcm.edu	37	19	20002465	20002465	+	Missense_Mutation	SNP	A	A	T			TCGA-CC-A1HT-01A-11D-A12Z-10	TCGA-CC-A1HT-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6b25a78f-20dc-4ccc-b4c0-f9885d16725d	0255f601-3be9-4059-9d36-7f666977eff0	g.chr19:20002465A>T	ENST00000589717.1	+	4	501	c.409A>T	c.(409-411)Aca>Tca	p.T137S	AC011477.1_ENST00000578823.1_RNA|ZNF253_ENST00000355650.4_Missense_Mutation_p.T61S|CTC-559E9.8_ENST00000585571.1_RNA	NM_021047.2	NP_066385.2	O75346	ZN253_HUMAN	zinc finger protein 253	137					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCAATGTTTGACAACTACCCA	0.323																																					p.T137S		Atlas-SNP	.											.	ZNF253	99	.	0			c.A409T						.						56.0	58.0	57.0					19																	20002465		2139	4275	6414	SO:0001583	missense	56242	exon4			TGTTTGACAACTA	AF038951	CCDS42532.1	19p12	2014-02-12	2003-12-17		ENSG00000256771	ENSG00000256771		"""Zinc fingers, C2H2-type"", ""-"""	13497	protein-coding gene	gene with protein product		606954	"""zinc finger protein 411"""	ZNF411		10585455	Standard	NM_021047		Approved	BMZF-1, FLJ90391	uc002noj.3	O75346	OTTHUMG00000182369	ENST00000589717.1:c.409A>T	chr19.hg19:g.20002465A>T	ENSP00000468720:p.Thr137Ser	236.0	0.0		163.0	27.0	NM_021047	A4FVA7|Q0P6G3|Q6P0L2|Q8NCA3|Q8NCF9	Missense_Mutation	SNP	ENST00000589717.1	hg19	CCDS42532.1	.	.	.	.	.	.	.	.	.	.	a	0.054	-1.242289	0.01481	.	.	ENSG00000256771	ENST00000355650	.	.	.	1.4	-2.81	0.05805	.	.	.	.	.	T	0.14399	0.0348	L	0.31420	0.93	0.09310	N	1	P	0.40144	0.704	B	0.34093	0.175	T	0.10823	-1.0613	7	.	.	.	.	2.2207	0.03971	0.3458:0.2228:0.0:0.4315	.	137	O75346	ZN253_HUMAN	S	137	.	.	T	+	1	0	ZNF253	19863465	0.003000	0.15002	0.043000	0.18650	0.043000	0.13939	1.039000	0.30266	-0.987000	0.03494	-1.020000	0.02445	ACA	.	.		0.323	ZNF253-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460802.1	NM_021047	
TRIM28	10155	hgsc.bcm.edu	37	19	59059680	59059680	+	Missense_Mutation	SNP	G	G	A			TCGA-CC-A1HT-01A-11D-A12Z-10	TCGA-CC-A1HT-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6b25a78f-20dc-4ccc-b4c0-f9885d16725d	0255f601-3be9-4059-9d36-7f666977eff0	g.chr19:59059680G>A	ENST00000253024.5	+	8	1410	c.1121G>A	c.(1120-1122)cGg>cAg	p.R374Q	TRIM28_ENST00000341753.6_Missense_Mutation_p.R292Q	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28	374	Interaction with MAGEC2.|Leucine zipper alpha helical coiled-coil region.|RBCC domain.				convergent extension involved in axis elongation (GO:0060028)|DNA repair (GO:0006281)|embryonic placenta morphogenesis (GO:0060669)|epithelial to mesenchymal transition (GO:0001837)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|Krueppel-associated box domain binding (GO:0035851)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		CAGCTGCACCGGGCCCTCAAG	0.542																																					p.R374Q		Atlas-SNP	.											.	TRIM28	46	.	0			c.G1121A						.						74.0	74.0	74.0					19																	59059680		2203	4300	6503	SO:0001583	missense	10155	exon8			TGCACCGGGCCCT		CCDS12985.1	19q13.4	2014-06-13	2011-01-25			ENSG00000130726		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	16384	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 157"""	601742	"""tripartite motif-containing 28"""			11331580, 11226167	Standard	NM_005762		Approved	TIF1B, KAP1, TF1B, RNF96, PPP1R157	uc002qtg.1	Q13263		ENST00000253024.5:c.1121G>A	chr19.hg19:g.59059680G>A	ENSP00000253024:p.Arg374Gln	121.0	0.0		129.0	34.0	NM_005762	O00677|Q7Z632|Q93040|Q96IM1	Missense_Mutation	SNP	ENST00000253024.5	hg19	CCDS12985.1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.931134	0.52866	.	.	ENSG00000130726	ENST00000253024;ENST00000341753	T;T	0.67698	-0.07;-0.28	5.64	4.61	0.57282	B-box, C-terminal (1);	0.235442	0.36303	N	0.002665	T	0.49218	0.1544	L	0.32530	0.975	0.36324	D	0.858459	P;P	0.42161	0.772;0.663	B;B	0.28385	0.089;0.041	T	0.62129	-0.6919	10	0.49607	T	0.09	-21.1432	12.4604	0.55729	0.0812:0.0:0.9188:0.0	.	292;374	Q13263-2;Q13263	.;TIF1B_HUMAN	Q	374;292	ENSP00000253024:R374Q;ENSP00000342232:R292Q	ENSP00000253024:R374Q	R	+	2	0	TRIM28	63751492	0.810000	0.29049	0.997000	0.53966	0.994000	0.84299	3.464000	0.53057	1.540000	0.49301	0.655000	0.94253	CGG	.	.		0.542	TRIM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467074.1	NM_005762	
TGM3	7053	hgsc.bcm.edu	37	20	2321189	2321189	+	Missense_Mutation	SNP	G	G	T			TCGA-CC-A1HT-01A-11D-A12Z-10	TCGA-CC-A1HT-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6b25a78f-20dc-4ccc-b4c0-f9885d16725d	0255f601-3be9-4059-9d36-7f666977eff0	g.chr20:2321189G>T	ENST00000381458.5	+	13	2107	c.2044G>T	c.(2044-2046)Gca>Tca	p.A682S		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	682					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|hair follicle morphogenesis (GO:0031069)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	calcium ion binding (GO:0005509)|catalytic activity (GO:0003824)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|transferase activity, transferring acyl groups (GO:0016746)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	CAAGTTCCCTGCAATCAAGGC	0.592																																					p.A682S		Atlas-SNP	.											.	TGM3	105	.	0			c.G2044T						.						137.0	100.0	113.0					20																	2321189		2203	4300	6503	SO:0001583	missense	7053	exon13			TTCCCTGCAATCA	L10386	CCDS33435.1	20q11.2	2013-05-02	2013-05-02		ENSG00000125780	ENSG00000125780	2.3.2.13	"""Transglutaminases"""	11779	protein-coding gene	gene with protein product	"""E polypeptide, protein-glutamine-gamma-glutamyltransferase"""	600238	"""transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase)"""			7851911, 9452468	Standard	NM_003245		Approved	TGE	uc002wfx.4	Q08188	OTTHUMG00000031690	ENST00000381458.5:c.2044G>T	chr20.hg19:g.2321189G>T	ENSP00000370867:p.Ala682Ser	122.0	0.0		141.0	12.0	NM_003245	A8K5N6|B2RCR6|D3DVX1|O95933|Q32ML9|Q32MM0	Missense_Mutation	SNP	ENST00000381458.5	hg19	CCDS33435.1	.	.	.	.	.	.	.	.	.	.	G	19.94	3.920268	0.73098	.	.	ENSG00000125780	ENST00000381458	T	0.28666	1.6	4.68	4.68	0.58851	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.361836	0.28241	N	0.016067	T	0.47691	0.1459	L	0.57536	1.79	0.35900	D	0.830321	D	0.55800	0.973	D	0.66979	0.948	T	0.51818	-0.8657	10	0.29301	T	0.29	-5.3995	12.9733	0.58525	0.0:0.0:1.0:0.0	.	682	Q08188	TGM3_HUMAN	S	682	ENSP00000370867:A682S	ENSP00000370867:A682S	A	+	1	0	TGM3	2269189	0.522000	0.26266	0.819000	0.32651	0.871000	0.50021	3.691000	0.54720	2.427000	0.82271	0.655000	0.94253	GCA	.	.		0.592	TGM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077579.2	NM_003245	
SPATA2	9825	hgsc.bcm.edu	37	20	48523374	48523374	+	Silent	SNP	C	C	A			TCGA-CC-A1HT-01A-11D-A12Z-10	TCGA-CC-A1HT-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6b25a78f-20dc-4ccc-b4c0-f9885d16725d	0255f601-3be9-4059-9d36-7f666977eff0	g.chr20:48523374C>A	ENST00000422556.1	-	3	694	c.345G>T	c.(343-345)acG>acT	p.T115T	SPATA2_ENST00000289431.5_Silent_p.T115T|SPATA2_ENST00000543716.1_5'UTR	NM_001135773.1	NP_001129245.1	Q9UM82	SPAT2_HUMAN	spermatogenesis associated 2	115					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	20	Hepatocellular(150;0.133)		BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			CAAAAGGGCCCGTGTAGGTCT	0.488																																					p.T115T		Atlas-SNP	.											.	SPATA2	36	.	0			c.G345T						.																																			SO:0001819	synonymous_variant	9825	exon3			AGGGCCCGTGTAG	AB018300	CCDS13422.1	20q13.13	2014-06-13			ENSG00000158480	ENSG00000158480			14681	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 145"""	607662					Standard	NM_001135773		Approved	KIAA0757, PD1, tamo, PPP1R145	uc002xuw.3	Q9UM82	OTTHUMG00000032704	ENST00000422556.1:c.345G>T	chr20.hg19:g.48523374C>A		186.0	0.0		242.0	22.0	NM_006038	E1P626|O94857	Silent	SNP	ENST00000422556.1	hg19	CCDS13422.1																																																																																			.	.		0.488	SPATA2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079658.1	NM_006038	
CSNK1E	1454	hgsc.bcm.edu	37	22	38696748	38696748	+	Missense_Mutation	SNP	G	G	C			TCGA-CC-A1HT-01A-11D-A12Z-10	TCGA-CC-A1HT-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6b25a78f-20dc-4ccc-b4c0-f9885d16725d	0255f601-3be9-4059-9d36-7f666977eff0	g.chr22:38696748G>C	ENST00000396832.1	-	5	806	c.546C>G	c.(544-546)atC>atG	p.I182M	CSNK1E_ENST00000403904.1_Missense_Mutation_p.I182M|CSNK1E_ENST00000400206.2_Missense_Mutation_p.I182M|CSNK1E_ENST00000359867.3_Missense_Mutation_p.I182M|CSNK1E_ENST00000405675.3_Missense_Mutation_p.I182M|CSNK1E_ENST00000413574.2_Missense_Mutation_p.I182M|CSNK1E_ENST00000498529.1_5'Flank	NM_152221.2	NP_689407.1	P49674	KC1E_HUMAN	casein kinase 1, epsilon	182	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein localization (GO:0034613)|circadian regulation of gene expression (GO:0032922)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Melanoma(58;0.045)					GGTGCGTGTTGATGGAAGCGT	0.662																																					p.I182M	Esophageal Squamous(119;108 755 9651 12170 13692 17603 24932 28315 37982 41601)	Atlas-SNP	.											.	CSNK1E	143	.	0			c.C546G						.						88.0	78.0	81.0					22																	38696748		2203	4300	6503	SO:0001583	missense	1454	exon5			CGTGTTGATGGAA		CCDS13970.1	22q13.1	2013-01-17			ENSG00000213923	ENSG00000213923			2453	protein-coding gene	gene with protein product		600863				7797465, 10535959	Standard	NM_001894		Approved	HCKIE, CKIE, CKIepsilon	uc003avk.3	P49674	OTTHUMG00000151135	ENST00000396832.1:c.546C>G	chr22.hg19:g.38696748G>C	ENSP00000380044:p.Ile182Met	353.0	0.0		289.0	77.0	NM_001894		Missense_Mutation	SNP	ENST00000396832.1	hg19	CCDS13970.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.364562|5.364562	0.95877|0.95877	.|.	.|.	ENSG00000213923|ENSG00000213923	ENST00000359867;ENST00000396832;ENST00000402865;ENST00000400206;ENST00000403904;ENST00000413574;ENST00000405675;ENST00000430335|ENST00000451964	T;T;T;T;T;T;T|.	0.65178|.	-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14|.	4.92|4.92	3.91|3.91	0.45181|0.45181	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.095385|.	0.64402|.	D|.	0.000001|.	T|.	0.74268|.	0.3694|.	M|M	0.88310|0.88310	2.945|2.945	0.80722|0.80722	D|D	1|1	D;P;D|.	0.63880|.	0.992;0.873;0.993|.	D;D;D|.	0.77557|.	0.984;0.966;0.99|.	T|.	0.75758|.	-0.3205|.	10|.	0.45353|.	T|.	0.12|.	.|.	5.7528|5.7528	0.18156|0.18156	0.1617:0.0:0.6809:0.1574|0.1617:0.0:0.6809:0.1574	.|.	182;182;182|.	B0QY35;B0QY34;P49674|.	.;.;KC1E_HUMAN|.	M|X	182|120	ENSP00000352929:I182M;ENSP00000380044:I182M;ENSP00000383067:I182M;ENSP00000384074:I182M;ENSP00000407235:I182M;ENSP00000384426:I182M;ENSP00000412335:I182M|.	ENSP00000352929:I182M|.	I|S	-|-	3|2	3|0	CSNK1E|CSNK1E	37026694|37026694	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.933000|0.933000	0.57130|0.57130	2.454000|2.454000	0.44979|0.44979	1.449000|1.449000	0.47699|0.47699	0.561000|0.561000	0.74099|0.74099	ATC|TCA	.	.		0.662	CSNK1E-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321462.1	NM_001894	
MAGEC3	139081	hgsc.bcm.edu	37	X	140985121	140985121	+	Missense_Mutation	SNP	A	A	G			TCGA-CC-A1HT-01A-11D-A12Z-10	TCGA-CC-A1HT-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6b25a78f-20dc-4ccc-b4c0-f9885d16725d	0255f601-3be9-4059-9d36-7f666977eff0	g.chrX:140985121A>G	ENST00000298296.1	+	7	1577	c.1577A>G	c.(1576-1578)gAa>gGa	p.E526G	MAGEC3_ENST00000544766.1_Missense_Mutation_p.E228G|MAGEC3_ENST00000409007.1_Missense_Mutation_p.E228G|MAGEC3_ENST00000443323.2_Missense_Mutation_p.E148G|MAGEC3_ENST00000536088.1_Missense_Mutation_p.E228G	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	526	MAGE 2. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					TATTTCTTTGAAGACACATTA	0.438																																					p.E526G		Atlas-SNP	.											.	MAGEC3	228	.	0			c.A1577G						.						152.0	144.0	147.0					X																	140985121		2203	4300	6503	SO:0001583	missense	139081	exon7			TCTTTGAAGACAC	AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 2"""	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.1577A>G	chrX.hg19:g.140985121A>G	ENSP00000298296:p.Glu526Gly	75.0	0.0		44.0	22.0	NM_138702	Q3SYA7|Q5JZ43|Q9BZ80	Missense_Mutation	SNP	ENST00000298296.1	hg19	CCDS14676.1	.	.	.	.	.	.	.	.	.	.	a	5.460	0.269946	0.10349	.	.	ENSG00000165509	ENST00000298296;ENST00000536088;ENST00000443323;ENST00000544766;ENST00000409007	T;T;T;T;T	0.04603	3.59;3.59;3.59;3.59;3.59	1.25	-2.5	0.06384	.	.	.	.	.	T	0.02418	0.0074	N	0.08118	0	0.09310	N	1	P;P	0.49253	0.921;0.49	B;B	0.42188	0.218;0.379	T	0.37865	-0.9687	9	0.59425	D	0.04	.	4.071	0.09882	0.5973:0.0:0.0:0.4027	.	526;228	Q8TD91;Q3SYA7	MAGC3_HUMAN;.	G	526;228;148;228;228	ENSP00000298296:E526G;ENSP00000441107:E228G;ENSP00000438254:E148G;ENSP00000440444:E228G;ENSP00000386566:E228G	ENSP00000298296:E526G	E	+	2	0	MAGEC3	140812787	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.807000	0.04520	-1.029000	0.03317	-1.111000	0.02071	GAA	.	.		0.438	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058606.1	NM_138702	
GABRQ	55879	hgsc.bcm.edu	37	X	151821044	151821044	+	Missense_Mutation	SNP	C	C	A			TCGA-CC-A1HT-01A-11D-A12Z-10	TCGA-CC-A1HT-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6b25a78f-20dc-4ccc-b4c0-f9885d16725d	0255f601-3be9-4059-9d36-7f666977eff0	g.chrX:151821044C>A	ENST00000370306.2	+	9	1219	c.1199C>A	c.(1198-1200)cCc>cAc	p.P400H		NM_018558.2	NP_061028.3	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	400					neurotransmitter transport (GO:0006836)|signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|neurotransmitter transporter activity (GO:0005326)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AGCTCTCTCCCCATCACCCCA	0.582																																					p.P400H		Atlas-SNP	.											.	GABRQ	131	.	0			c.C1199A						.						74.0	68.0	70.0					X																	151821044		2203	4300	6503	SO:0001583	missense	55879	exon9			CTCTCCCCATCAC	U47334	CCDS14707.1	Xq28	2012-06-22	2012-02-03		ENSG00000147402	ENSG00000268089		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	14454	protein-coding gene	gene with protein product	"""GABA(A) receptor, theta"""	300349	"""gamma-aminobutyric acid (GABA) receptor, theta"""			10804200, 10449790	Standard	NM_018558		Approved	THETA	uc004ffp.1	Q9UN88	OTTHUMG00000022649	ENST00000370306.2:c.1199C>A	chrX.hg19:g.151821044C>A	ENSP00000359329:p.Pro400His	159.0	0.0		169.0	66.0	NM_018558	A6NFN1|Q32MB4|Q9NZK8	Missense_Mutation	SNP	ENST00000370306.2	hg19	CCDS14707.1	.	.	.	.	.	.	.	.	.	.	C	17.01	3.279283	0.59758	.	.	ENSG00000147402	ENST00000370306	D	0.85629	-2.01	4.59	-0.767	0.11016	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.485053	0.15556	N	0.256196	T	0.74558	0.3732	L	0.46157	1.445	0.09310	N	1	B	0.12013	0.005	B	0.20767	0.031	T	0.62576	-0.6825	10	0.56958	D	0.05	.	0.591	0.00728	0.1747:0.3097:0.1684:0.3472	.	400	Q9UN88	GBRT_HUMAN	H	400	ENSP00000359329:P400H	ENSP00000359329:P400H	P	+	2	0	GABRQ	151571700	0.000000	0.05858	0.000000	0.03702	0.480000	0.33159	0.034000	0.13776	-0.294000	0.08973	0.600000	0.82982	CCC	.	.		0.582	GABRQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058763.2	NM_018558	
MPP1	4354	hgsc.bcm.edu	37	X	154013425	154013425	+	Missense_Mutation	SNP	C	C	T			TCGA-CC-A1HT-01A-11D-A12Z-10	TCGA-CC-A1HT-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6b25a78f-20dc-4ccc-b4c0-f9885d16725d	0255f601-3be9-4059-9d36-7f666977eff0	g.chrX:154013425C>T	ENST00000369534.3	-	7	832	c.685G>A	c.(685-687)Gca>Aca	p.A229T	MPP1_ENST00000462825.1_5'UTR|MPP1_ENST00000413259.3_Missense_Mutation_p.A199T|MPP1_ENST00000393531.1_Missense_Mutation_p.A209T	NM_001166460.1|NM_001166461.1|NM_002436.3	NP_001159932.1|NP_001159933.1|NP_002427.1	Q00013	EM55_HUMAN	membrane protein, palmitoylated 1, 55kDa	229					nucleotide phosphorylation (GO:0046939)|regulation of neutrophil chemotaxis (GO:0090022)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cortical cytoskeleton (GO:0030863)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1)	21	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GCCATACTTGCCACTCGCCTG	0.557																																					p.A229T		Atlas-SNP	.											.	MPP1	52	.	0			c.G685A						.						71.0	60.0	64.0					X																	154013425		2203	4300	6503	SO:0001583	missense	4354	exon7			TACTTGCCACTCG		CCDS14762.1, CCDS55544.1, CCDS55545.1	Xq28	2008-03-04	2002-08-29		ENSG00000130830	ENSG00000130830			7219	protein-coding gene	gene with protein product		305360	"""membrane protein, palmitoylated 1 (55kD)"""	DXS552E		1713685	Standard	NM_002436		Approved	PEMP	uc004fmp.2	Q00013	OTTHUMG00000024244	ENST00000369534.3:c.685G>A	chrX.hg19:g.154013425C>T	ENSP00000358547:p.Ala229Thr	65.0	0.0		70.0	30.0	NM_002436	B4DZV5|G3XAI1|Q2TSB6|Q5J7V5	Missense_Mutation	SNP	ENST00000369534.3	hg19	CCDS14762.1	.	.	.	.	.	.	.	.	.	.	C	17.37	3.372189	0.61624	.	.	ENSG00000130830	ENST00000369534;ENST00000413259;ENST00000393531;ENST00000453245;ENST00000393529;ENST00000428488	D;D;D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.66;-1.66;-1.66	5.56	5.56	0.83823	Src homology-3 domain (1);	0.000000	0.85682	D	0.000000	D	0.91754	0.7392	M	0.83312	2.635	0.54753	D	0.999988	D;P;D;P;P	0.89917	1.0;0.784;1.0;0.863;0.784	D;P;D;P;P	0.85130	0.996;0.465;0.997;0.666;0.465	D	0.92891	0.6331	10	0.87932	D	0	.	16.9479	0.86235	0.0:1.0:0.0:0.0	.	212;199;103;209;229	B4E325;B4DZV5;C9J9J4;G3XAI1;Q00013	.;.;.;.;EM55_HUMAN	T	229;199;209;103;183;126	ENSP00000358547:A229T;ENSP00000400155:A199T;ENSP00000377165:A209T;ENSP00000410888:A103T;ENSP00000377163:A183T;ENSP00000391701:A126T	ENSP00000358547:A229T	A	-	1	0	MPP1	153666619	1.000000	0.71417	0.805000	0.32314	0.040000	0.13550	7.146000	0.77373	2.313000	0.78055	0.600000	0.82982	GCA	.	.		0.557	MPP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061191.3	NM_002436	
IL9R	3581	hgsc.bcm.edu	37	X	155239667	155239667	+	Missense_Mutation	SNP	C	C	A			TCGA-CC-A1HT-01A-11D-A12Z-10	TCGA-CC-A1HT-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6b25a78f-20dc-4ccc-b4c0-f9885d16725d	0255f601-3be9-4059-9d36-7f666977eff0	g.chrX:155239667C>A	ENST00000244174.5	+	9	1338	c.1159C>A	c.(1159-1161)Ctg>Atg	p.L387M	IL9R_ENST00000540897.1_3'UTR|IL9R_ENST00000424344.3_Missense_Mutation_p.L366M|IL9R_ENST00000369423.2_3'UTR	NM_002186.2	NP_002177.2	Q01113	IL9R_HUMAN	interleukin 9 receptor	387					cell proliferation (GO:0008283)|positive regulation of cell growth (GO:0030307)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	interleukin-9 receptor activity (GO:0004919)			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CCCGGGGAACCTGAGCTCAGA	0.647																																					p.L387M		Atlas-SNP	.											.	IL9R	73	.	0			c.C1159A						.						18.0	33.0	28.0					X																	155239667		2128	4267	6395	SO:0001583	missense	3581	exon9			GGGAACCTGAGCT	M84747	CCDS14771.4, CCDS59180.1	Xq28 and Yq12	2008-02-05			ENSG00000124334	ENSG00000124334		"""Pseudoautosomal regions / PAR2"", ""Interleukins and interleukin receptors"", ""CD molecules"""	6030	protein-coding gene	gene with protein product		300007				1376929, 8666384	Standard	NM_002186		Approved	CD129	uc004fnv.1	Q01113	OTTHUMG00000022720	ENST00000244174.5:c.1159C>A	chrX.hg19:g.155239667C>A	ENSP00000244174:p.Leu387Met	247.0	0.0		330.0	38.0	NM_002186	B9ZVT0|Q14634|Q8WWU1|Q96TF0	Missense_Mutation	SNP	ENST00000244174.5	hg19	CCDS14771.4	.	.	.	.	.	.	.	.	.	.	c	6.810	0.518491	0.13005	.	.	ENSG00000124334	ENST00000244174;ENST00000424344	T;T	0.10860	2.83;2.83	0.971	0.0097	0.14080	.	2.975570	0.01806	U	0.033170	T	0.17365	0.0417	.	.	.	0.09310	N	1	D	0.60160	0.987	P	0.55391	0.775	T	0.09292	-1.0681	9	0.38643	T	0.18	.	3.0994	0.06320	0.0:0.6516:0.0:0.3484	.	387	Q01113	IL9R_HUMAN	M	387;366	ENSP00000244174:L387M;ENSP00000388918:L366M	ENSP00000244174:L387M	L	+	1	2	IL9R	154892861	0.000000	0.05858	0.003000	0.11579	0.052000	0.14988	-0.626000	0.05527	-0.069000	0.12931	0.287000	0.19450	CTG	.	.		0.647	IL9R-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058981.1	NM_002186	
MT-ND4L	4539	hgsc.bcm.edu	37	M	10531	10531	+	Missense_Mutation	SNP	T	T	C			TCGA-CC-A1HT-01A-11D-A12Z-10	TCGA-CC-A1HT-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6b25a78f-20dc-4ccc-b4c0-f9885d16725d	0255f601-3be9-4059-9d36-7f666977eff0	g.chrM:10531T>C	ENST00000361335.1	+	1	62	c.62T>C	c.(61-63)gTa>gCa	p.V21A	MT-TR_ENST00000387439.1_RNA|MT-ND4_ENST00000361381.2_5'Flank|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-ND5_ENST00000361567.2_5'Flank|MT-TH_ENST00000387441.1_RNA|MT-TG_ENST00000387429.1_RNA			P03901	NU4LM_HUMAN	mitochondrially encoded NADH dehydrogenase 4L	21					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(2)|kidney(2)	5						AGGAATACTAGTATATCGCTC	0.358																																					p.V21A		Atlas-SNP	.											.	.	.	.	0			c.T62C						.																																			SO:0001583	missense	0	exon1			TACTAGTATATCG			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000212907	ENSG00000212907	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7460	protein-coding gene	gene with protein product	"""complex I ND4L subunit"", ""NADH-ubiquinone oxidoreductase chain 4L"""	516004	"""NADH dehydrogenase 4L"""	MTND4L			Standard			Approved	ND4L, NAD4L		P03901		ENST00000361335.1:c.62T>C	chrM.hg19:g.10531T>C	ENSP00000354728:p.Val21Ala	195.0	0.0		161.0	106.0	ENST00000361335		Missense_Mutation	SNP	ENST00000361335.1	hg19																																																																																				.	.		0.358	MT-ND4L-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024034	
MT-ND4	4538	hgsc.bcm.edu	37	M	11170	11170	+	Silent	SNP	C	C	T			TCGA-CC-A1HT-01A-11D-A12Z-10	TCGA-CC-A1HT-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6b25a78f-20dc-4ccc-b4c0-f9885d16725d	0255f601-3be9-4059-9d36-7f666977eff0	g.chrM:11170C>T	ENST00000361381.2	+	1	411	c.411C>T	c.(409-411)ggC>ggT	p.G137G	MT-TR_ENST00000387439.1_RNA|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-ND5_ENST00000361567.2_5'Flank|MT-TH_ENST00000387441.1_RNA|MT-TG_ENST00000387429.1_RNA			P03905	NU4M_HUMAN	mitochondrially encoded NADH dehydrogenase 4	137					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1)	13						ACCCGATGAGGCAACCAGCCA	0.448																																					p.G137G		Atlas-SNP	.											.	.	.	.	0			c.C411T						.																																			SO:0001819	synonymous_variant	0	exon1			ATGAGGCAACCAG			mitochondria	2014-02-03	2005-02-15	2005-02-16	ENSG00000198886	ENSG00000198886	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7459	protein-coding gene	gene with protein product	"""complex I ND4 subunit"", ""NADH-ubiquinone oxidoreductase chain 4"""	516003	"""NADH dehydrogenase 4"", ""Leber optic neuropathy"""	MTND4, LHON		8103501	Standard			Approved	ND4, NAD4		P03905		ENST00000361381.2:c.411C>T	chrM.hg19:g.11170C>T		196.0	0.0		194.0	56.0	ENST00000361381	Q6RL39|Q6RQN9|Q8HNR8	Silent	SNP	ENST00000361381.2	hg19																																																																																				.	.		0.448	MT-ND4-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024035	
GAB2	9846	hgsc.bcm.edu	37	11	77932827	77932828	+	Splice_Site	INS	-	-	G	rs145840199		TCGA-CC-A1HT-01A-11D-A12Z-10	TCGA-CC-A1HT-10A-01D-A12Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6b25a78f-20dc-4ccc-b4c0-f9885d16725d	0255f601-3be9-4059-9d36-7f666977eff0	g.chr11:77932827_77932828insG	ENST00000361507.4	-	8	1744		c.e8-2		GAB2_ENST00000340149.2_Splice_Site	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2						cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell degranulation (GO:0043306)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			AAGGTGTGGCTGTTGTGGGAAG	0.584																																					.		Atlas-INDEL	.											.	GAB2	63	.	0			c.1659-2->C						.																																			SO:0001630	splice_region_variant	9846	exon9			.	AB011143	CCDS8259.1, CCDS8260.1	11q13.4-q13.5	2013-01-10			ENSG00000033327	ENSG00000033327		"""Pleckstrin homology (PH) domain containing"""	14458	protein-coding gene	gene with protein product	"""Grb2-associated binder 2"""	606203				10391903, 10068651	Standard	NM_080491		Approved	KIAA0571	uc001ozh.3	Q9UQC2	OTTHUMG00000166673	ENST00000361507.4:c.1659-2->C	chr11.hg19:g.77932828_77932828dupG		353.0	0.0		336.0	22.0	NM_080491	A2RRM2|A6NEW9|A7MD36|O60317	Splice_Site	INS	ENST00000361507.4	hg19	CCDS8259.1																																																																																			.	.		0.584	GAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391085.1	NM_080491	Intron
SLC9A3	6550	hgsc.bcm.edu	37	5	488534	488535	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CC-A1HT-01A-11D-A12Z-10	TCGA-CC-A1HT-10A-01D-A12Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6b25a78f-20dc-4ccc-b4c0-f9885d16725d	0255f601-3be9-4059-9d36-7f666977eff0	g.chr5:488534_488535insC	ENST00000264938.3	-	3	580_581	c.571_572insG	c.(571-573)gtgfs	p.V191fs	SLC9A3_ENST00000514375.1_Frame_Shift_Ins_p.V191fs	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	191					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|sodium:proton antiporter activity (GO:0015385)			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			CACCGGGTCCACAGCCGCCATG	0.649																																					p.V191fs		Atlas-INDEL	.											.	SLC9A3	89	.	0			c.572_573insG						.																																			SO:0001589	frameshift_variant	6550	exon3			.		CCDS3855.1, CCDS64116.1	5p15.3	2013-05-22	2012-03-22		ENSG00000066230	ENSG00000066230		"""Solute carriers"""	11073	protein-coding gene	gene with protein product		182307	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 3"""	NHE3		8096830	Standard	NM_004174		Approved		uc003jbe.2	P48764	OTTHUMG00000090315	ENST00000264938.3:c.572dupG	chr5.hg19:g.488535_488535dupC	ENSP00000264938:p.Val191fs	94.0	0.0		135.0	11.0	NM_004174	B7ZKR2|E9PF67|Q3MIW3	Frame_Shift_Ins	INS	ENST00000264938.3	hg19	CCDS3855.1																																																																																			.	.		0.649	SLC9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206677.2	NM_004174	
CAPN14	440854	hgsc.bcm.edu	37	2	31399956	31399957	+	Frame_Shift_Ins	INS	-	-	GC			TCGA-CC-A1HT-01A-11D-A12Z-10	TCGA-CC-A1HT-10A-01D-A12Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6b25a78f-20dc-4ccc-b4c0-f9885d16725d	0255f601-3be9-4059-9d36-7f666977eff0	g.chr2:31399956_31399957insGC	ENST00000403897.3	-	20	2048_2049	c.1907_1908insGC	c.(1906-1908)ggcfs	p.G636fs	CAPN14_ENST00000444918.2_Frame_Shift_Ins_p.G636fs	NM_001145122.1	NP_001138594.1	A8MX76	CAN14_HUMAN	calpain 14	636	Domain IV.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(1)|endometrium(2)|prostate(1)|skin(1)|stomach(2)	7						GGAGGCGGGGGCCGCCGTAGCG	0.579																																					p.G636fs		Atlas-INDEL	.											.	CAPN14	36	.	0			c.1908_1909insGC						.																																			SO:0001589	frameshift_variant	440854	exon20			.	AC015980	CCDS46254.1	2p23.1-p21	2013-01-10			ENSG00000214711	ENSG00000214711		"""EF-hand domain containing"""	16664	protein-coding gene	gene with protein product		610229				11675017	Standard	NM_001145122		Approved		uc010yms.2	A8MX76	OTTHUMG00000152039	ENST00000403897.3:c.1907_1908insGC	chr2.hg19:g.31399956_31399957insGC	ENSP00000385247:p.Gly636fs	133.0	0.0		176.0	13.0	NM_001145122	B3KRU9	Frame_Shift_Ins	INS	ENST00000403897.3	hg19	CCDS46254.1																																																																																			.	.		0.579	CAPN14-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325010.1	NM_001145122	
AXIN2	8313	hgsc.bcm.edu	37	17	63545764	63545765	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-CC-A1HT-01A-11D-A12Z-10	TCGA-CC-A1HT-10A-01D-A12Z-10	CT	CT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6b25a78f-20dc-4ccc-b4c0-f9885d16725d	0255f601-3be9-4059-9d36-7f666977eff0	g.chr17:63545764_63545765delCT	ENST00000375702.5	-	2	937_938	c.829_830delAG	c.(829-831)agcfs	p.S277fs	AXIN2_ENST00000307078.5_Frame_Shift_Del_p.S277fs|CTD-2535L24.2_ENST00000577662.1_3'UTR			Q9Y2T1	AXIN2_HUMAN	axin 2	277					bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|dorsal/ventral axis specification (GO:0009950)|intramembranous ossification (GO:0001957)|maintenance of DNA repeat elements (GO:0043570)|mRNA stabilization (GO:0048255)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast differentiation (GO:0045668)|odontogenesis (GO:0042476)|positive regulation of cell death (GO:0010942)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein phosphorylation (GO:0001934)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of chondrocyte development (GO:0061181)|regulation of mismatch repair (GO:0032423)|secondary heart field specification (GO:0003139)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						AACAGGATCGCTCCTCTTGAAG	0.51									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome																												p.277_277del		Atlas-Indel,Pindel	.											AXIN2,rectum,carcinoma,0,1	AXIN2	92	.	0			c.830_831del						.																																			SO:0001589	frameshift_variant	8313	exon3	Familial Cancer Database	Oligodontia-Colorectal Cancer syndrome, Tooth Agenesis-Colorectal Cancer Syndrome	.	AF078165	CCDS11662.1	17q24.1	2014-09-17	2008-08-01		ENSG00000168646				904	protein-coding gene	gene with protein product	"""conductin"", ""axil"""	604025				10049590	Standard	NM_004655		Approved	MGC126582, DKFZp781B0869	uc002jfi.3	Q9Y2T1	OTTHUMG00000179353	ENST00000375702.5:c.829_830delAG	chr17.hg19:g.63545764_63545765delCT	ENSP00000364854:p.Ser277fs	123.0	0.0		92.0	14.0	NM_004655	Q3MJ88|Q9H3M6|Q9UH84	Frame_Shift_Del	DEL	ENST00000375702.5	hg19																																																																																				.	.		0.510	AXIN2-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000445901.1	NM_004655	
MTOR	2475	hgsc.bcm.edu	37	1	11264717	11264718	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CC-A1HT-01A-11D-A12Z-10	TCGA-CC-A1HT-10A-01D-A12Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6b25a78f-20dc-4ccc-b4c0-f9885d16725d	0255f601-3be9-4059-9d36-7f666977eff0	g.chr1:11264717_11264718insC	ENST00000361445.4	-	26	3920_3921	c.3844_3845insG	c.(3844-3846)gaafs	p.E1282fs		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1282					cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	TCTCAGCCATTCCAGCCAGTCA	0.589																																					p.E1282fs		Atlas-INDEL	.											.	MTOR	327	.	0			c.3845_3846insG						.																																			SO:0001589	frameshift_variant	2475	exon26			.	L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.3845dupG	chr1.hg19:g.11264719_11264719dupC	ENSP00000354558:p.Glu1282fs	191.0	0.0		210.0	13.0	NM_004958	Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Frame_Shift_Ins	INS	ENST00000361445.4	hg19	CCDS127.1																																																																																			.	.		0.589	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958	
VGLL4	9686	hgsc.bcm.edu	37	3	11606425	11606426	+	Frame_Shift_Del	DEL	GC	GC	-	rs145391722		TCGA-CC-A1HT-01A-11D-A12Z-10	TCGA-CC-A1HT-10A-01D-A12Z-10	GC	GC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6b25a78f-20dc-4ccc-b4c0-f9885d16725d	0255f601-3be9-4059-9d36-7f666977eff0	g.chr3:11606425_11606426delGC	ENST00000413604.1	-	3	515_516	c.145_146delGC	c.(145-147)gctfs	p.A49fs	VGLL4_ENST00000273038.3_Frame_Shift_Del_p.A108fs|VGLL4_ENST00000404339.1_Frame_Shift_Del_p.A113fs|VGLL4_ENST00000430365.2_Frame_Shift_Del_p.A114fs|VGLL4_ENST00000451674.2_Frame_Shift_Del_p.A28fs|VGLL4_ENST00000424529.2_Frame_Shift_Del_p.A24fs			Q14135	VGLL4_HUMAN	vestigial-like family member 4	108					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111)		GGGGGCCACAGCGCGCTCGATG	0.653																																					p.114_114del		Atlas-INDEL	.											.	VGLL4	47	.	0			c.341_342del						.																																			SO:0001589	frameshift_variant	9686	exon3			.	D50911	CCDS2606.1, CCDS46754.1, CCDS46755.1, CCDS46756.1, CCDS68342.1, CCDS68343.1	3p25.2	2014-03-03	2014-03-03		ENSG00000144560	ENSG00000144560			28966	protein-coding gene	gene with protein product			"""vestigial like 4 (Drosophila)"""			8590280, 15140898	Standard	NM_001284390		Approved	KIAA0121	uc010hdx.1	Q14135	OTTHUMG00000129739	ENST00000413604.1:c.145_146delGC	chr3.hg19:g.11606429_11606430delGC	ENSP00000404624:p.Ala49fs	80.0	0.0		104.0	11.0	NM_001128219	B4DTS7|J3KN68|Q7L5V0|Q9BQ78	Frame_Shift_Del	DEL	ENST00000413604.1	hg19																																																																																				.	.		0.653	VGLL4-004	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000339139.2	NM_014667	
SCNN1D	6339	hgsc.bcm.edu	37	1	1222261	1222262	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CC-A1HT-01A-11D-A12Z-10	TCGA-CC-A1HT-10A-01D-A12Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6b25a78f-20dc-4ccc-b4c0-f9885d16725d	0255f601-3be9-4059-9d36-7f666977eff0	g.chr1:1222261_1222262insC	ENST00000338555.2	+	5	1677_1678	c.533_534insC	c.(532-537)gtccccfs	p.VP178fs	SCNN1D_ENST00000379116.5_Frame_Shift_Ins_p.VP342fs|SCNN1D_ENST00000325425.8_Frame_Shift_Ins_p.VP244fs|SCNN1D_ENST00000400928.3_Frame_Shift_Ins_p.VP178fs			P51172	SCNND_HUMAN	sodium channel, non-voltage-gated 1, delta subunit	178					ion transmembrane transport (GO:0034220)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	actin cytoskeleton (GO:0015629)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ligand-gated sodium channel activity (GO:0015280)			lung(6)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	Amiloride(DB00594)|Triamterene(DB00384)	TCCGCCACTGTCCCCCGCCACG	0.644																																					p.V342fs		Atlas-INDEL	.											.	SCNN1D	60	.	0			c.1025_1026insC						.																																			SO:0001589	frameshift_variant	6339	exon8			.	U38254	CCDS44037.1, CCDS44037.2	1p36.3-p36.2	2012-02-28	2012-02-28		ENSG00000162572	ENSG00000162572		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10601	protein-coding gene	gene with protein product		601328	"""sodium channel, nonvoltage-gated 1, delta"", ""sodium channel, non-voltage-gated 1, delta"""			8661065	Standard	NM_001130413		Approved	ENaCdelta, dNaCh	uc001adt.1	P51172	OTTHUMG00000002081	ENST00000338555.2:c.538dupC	chr1.hg19:g.1222266_1222266dupC	ENSP00000339504:p.Val178fs	131.0	0.0		171.0	12.0	NM_001130413	A9Z1X6|B1PS44|Q08AQ3|Q09HT0|Q5T7L3|Q8NA24	Frame_Shift_Ins	INS	ENST00000338555.2	hg19																																																																																				.	.		0.644	SCNN1D-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000005802.2	NM_002978	
DENND5B	160518	hgsc.bcm.edu	37	12	31605091	31605092	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CC-A1HT-01A-11D-A12Z-10	TCGA-CC-A1HT-10A-01D-A12Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6b25a78f-20dc-4ccc-b4c0-f9885d16725d	0255f601-3be9-4059-9d36-7f666977eff0	g.chr12:31605091_31605092insT	ENST00000389082.5	-	5	1675_1676	c.1411_1412insA	c.(1411-1413)atgfs	p.M471fs	DENND5B_ENST00000354285.4_Frame_Shift_Ins_p.M493fs|DENND5B_ENST00000306833.6_Frame_Shift_Ins_p.M506fs|snoU13_ENST00000458765.1_RNA|DENND5B_ENST00000536562.1_Frame_Shift_Ins_p.M506fs	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	471					positive regulation of Rab GTPase activity (GO:0032851)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						AGAGAGGTCCATTTTTTCCACA	0.47																																					p.M471fs		Atlas-Indel,Pindel	.											.	DENND5B	114	.	0			c.1412_1413insA						.																																			SO:0001589	frameshift_variant	160518	exon5			.	AF086301	CCDS44857.1	12p11.21	2012-10-03			ENSG00000170456	ENSG00000170456		"""DENN/MADD domain containing"""	28338	protein-coding gene	gene with protein product						12477932	Standard	NM_144973		Approved	MGC24039	uc001rki.1	Q6ZUT9	OTTHUMG00000169034	ENST00000389082.5:c.1412dupA	chr12.hg19:g.31605097_31605097dupT	ENSP00000373734:p.Met471fs	227.0	0.0		269.0	42.0	NM_144973	B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Frame_Shift_Ins	INS	ENST00000389082.5	hg19	CCDS44857.1																																																																																			.	.		0.470	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402040.1	NM_144973	
NR2F2	7026	hgsc.bcm.edu	37	15	96875607	96875608	+	Frame_Shift_Del	DEL	CG	CG	-			TCGA-CC-A1HT-01A-11D-A12Z-10	TCGA-CC-A1HT-10A-01D-A12Z-10	CG	CG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6b25a78f-20dc-4ccc-b4c0-f9885d16725d	0255f601-3be9-4059-9d36-7f666977eff0	g.chr15:96875607_96875608delCG	ENST00000394166.3	+	1	1662_1663	c.273_274delCG	c.(271-276)tacggcfs	p.YG91fs	NR2F2_ENST00000421109.2_Intron|NR2F2_ENST00000453270.2_5'Flank|NR2F2_ENST00000394171.2_5'Flank|MIR1469_ENST00000410719.1_RNA	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	91					anterior/posterior pattern specification (GO:0009952)|blood vessel morphogenesis (GO:0048514)|fertilization (GO:0009566)|forebrain development (GO:0030900)|intracellular receptor signaling pathway (GO:0030522)|limb development (GO:0060173)|lipid metabolic process (GO:0006629)|maternal placenta development (GO:0001893)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|radial pattern formation (GO:0009956)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to estradiol (GO:0032355)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			GCAAGCACTACGGCCAGTTCAC	0.653																																					p.91_91del		Atlas-Indel,Pindel	.											.	NR2F2	35	.	0			c.272_273del						.																																			SO:0001589	frameshift_variant	7026	exon1			.	M64497	CCDS10375.1, CCDS45358.1, CCDS45359.1	15q26	2013-01-16			ENSG00000185551	ENSG00000185551		"""Nuclear hormone receptors"""	7976	protein-coding gene	gene with protein product		107773		ARP1, TFCOUP2		8530078, 11544252	Standard	NM_021005		Approved	COUP-TFII, COUPTFB, SVP40, NF-E3	uc010uri.2	P24468	OTTHUMG00000149848	ENST00000394166.3:c.273_274delCG	chr15.hg19:g.96875607_96875608delCG	ENSP00000377721:p.Tyr91fs	100.0	0.0		100.0	15.0	NM_021005	B4DQJ2|B6ZGU1|Q03754|Q3KQR7	Frame_Shift_Del	DEL	ENST00000394166.3	hg19	CCDS10375.1																																																																																			.	.		0.653	NR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313534.1		
ZDBF2	57683	hgsc.bcm.edu	37	2	207170909	207170909	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CC-A1HT-01A-11D-A12Z-10	TCGA-CC-A1HT-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	6b25a78f-20dc-4ccc-b4c0-f9885d16725d	0255f601-3be9-4059-9d36-7f666977eff0	g.chr2:207170909delC	ENST00000374423.3	+	5	2043	c.1657delC	c.(1657-1659)cccfs	p.P554fs		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	554							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GGTTGACAGACCCCCAGTGGC	0.433																																					p.R552fs		Pindel	.											.	ZDBF2	531	.	0			c.1656delA						.						100.0	94.0	96.0					2																	207170909		1865	4113	5978	SO:0001589	frameshift_variant	57683	exon5			.	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.1657delC	chr2.hg19:g.207170909delC	ENSP00000363545:p.Pro554fs	99.0	0.0		98.0	10.0	NM_020923	Q6ZNP7|Q6ZSN8	Frame_Shift_Del	DEL	ENST00000374423.3	hg19	CCDS46501.1																																																																																			.	.		0.433	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923	
