#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
ATAD3B	83858	hgsc.bcm.edu	37	1	1425945	1425945	+	Missense_Mutation	SNP	G	G	T			TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chr1:1425945G>T	ENST00000308647.7	+	15	1624	c.1508G>T	c.(1507-1509)cGc>cTc	p.R503L		NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	503						mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	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;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TTCCCCAGGCGCCTGAAGCTG	0.662																																					p.R503L		Atlas-SNP	.											ATAD3B,NS,carcinoma,0,1	ATAD3B	68	.	0			c.G1508T						.						32.0	34.0	33.0					1																	1425945		2199	4291	6490	SO:0001583	missense	83858	exon15			CCAGGCGCCTGAA	AL834179	CCDS30.1	1p36.33	2010-04-21		2007-02-08	ENSG00000160072	ENSG00000160072		"""ATPases / AAA-type"""	24007	protein-coding gene	gene with protein product		612317				10574462	Standard	XM_005244806		Approved	TOB3, KIAA1273	uc001afv.3	Q5T9A4	OTTHUMG00000000577	ENST00000308647.7:c.1508G>T	chr1.hg19:g.1425945G>T	ENSP00000311766:p.Arg503Leu	227.0	0.0		272.0	110.0	NM_031921	A8K3H1|Q6ZRB5|Q9BUK4|Q9ULE7	Missense_Mutation	SNP	ENST00000308647.7	hg19	CCDS30.1	.	.	.	.	.	.	.	.	.	.	.	12.20	1.867062	0.32977	.	.	ENSG00000160072	ENST00000378737;ENST00000308647	T	0.19938	2.11	2.51	2.51	0.30379	.	0.000000	0.85682	D	0.000000	T	0.40645	0.1125	M	0.81802	2.56	0.80722	D	1	D;D	0.65815	0.995;0.982	D;P	0.63192	0.912;0.863	T	0.31971	-0.9924	10	0.51188	T	0.08	.	8.7624	0.34683	0.127:0.0:0.873:0.0	.	457;503	Q5T9A4-3;Q5T9A4	.;ATD3B_HUMAN	L	337;503	ENSP00000311766:R503L	ENSP00000311766:R503L	R	+	2	0	ATAD3B	1415808	1.000000	0.71417	0.995000	0.50966	0.183000	0.23260	7.477000	0.81069	1.412000	0.46977	0.194000	0.17425	CGC	.	.		0.662	ATAD3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001369.2	NM_031921	
PRAMEF2	65122	hgsc.bcm.edu	37	1	12919905	12919905	+	Silent	SNP	G	G	T	rs376186859		TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chr1:12919905G>T	ENST00000240189.2	+	3	732	c.645G>T	c.(643-645)acG>acT	p.T215T		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	215					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTCACAACACGTGCTGGCCAC	0.373																																					p.T215T		Atlas-SNP	.											.	PRAMEF2	85	.	0			c.G645T						.	G		1,4401	2.1+/-5.4	0,1,2200	99.0	107.0	104.0		645	-1.3	0.0	1		104	0,8586		0,0,4293	no	coding-synonymous	PRAMEF2	NM_023014.1		0,1,6493	TT,TG,GG		0.0,0.0227,0.0077		215/475	12919905	1,12987	2201	4293	6494	SO:0001819	synonymous_variant	65122	exon3			CAACACGTGCTGG		CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"""-"""	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.645G>T	chr1.hg19:g.12919905G>T		120.0	0.0		143.0	32.0	NM_023014		Silent	SNP	ENST00000240189.2	hg19	CCDS149.1																																																																																			.	.		0.373	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005517.1	NM_023014	
AGO1	26523	hgsc.bcm.edu	37	1	36359333	36359333	+	Missense_Mutation	SNP	G	G	T			TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chr1:36359333G>T	ENST00000373204.4	+	5	784	c.571G>T	c.(571-573)Ggg>Tgg	p.G191W	AGO1_ENST00000373206.1_Missense_Mutation_p.G116W	NM_012199.2	NP_036331.1	Q9UL18	AGO1_HUMAN	argonaute RISC catalytic component 1	191					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process (GO:0000956)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										CCACCCGCTGGGGGGTGGGCG	0.632																																					p.G191W		Atlas-SNP	.											.	.	.	.	0			c.G571T						.						46.0	44.0	45.0					1																	36359333		2203	4300	6503	SO:0001583	missense	26523	exon5			CCGCTGGGGGGTG	AF093097	CCDS398.1	1p34.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000092847	ENSG00000092847		"""Argonaute/PIWI family"""	3262	protein-coding gene	gene with protein product	"""argonaute 1"""	606228	"""eukaryotic translation initiation factor 2C, 1"""	EIF2C1		10534406, 12906857	Standard	NM_012199		Approved	hAGO1	uc001bzl.3	Q9UL18	OTTHUMG00000007381	ENST00000373204.4:c.571G>T	chr1.hg19:g.36359333G>T	ENSP00000362300:p.Gly191Trp	33.0	0.0		43.0	17.0	NM_012199	Q5TA57|Q6P4S0	Missense_Mutation	SNP	ENST00000373204.4	hg19	CCDS398.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.327338	0.81690	.	.	ENSG00000092847	ENST00000373206;ENST00000373204	T;T	0.13420	2.62;2.59	5.93	5.93	0.95920	Argonaute/Dicer protein, PAZ (1);Domain of unknown function DUF1785 (1);	0.000000	0.85682	D	0.000000	T	0.57007	0.2024	H	0.97540	4.025	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72181	-0.4368	10	0.87932	D	0	-23.2269	20.3334	0.98727	0.0:0.0:1.0:0.0	.	191	Q9UL18	AGO1_HUMAN	W	116;191	ENSP00000362302:G116W;ENSP00000362300:G191W	ENSP00000362300:G191W	G	+	1	0	EIF2C1	36131920	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.818000	0.97014	0.591000	0.81541	GGG	.	.		0.632	AGO1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019337.3		
ELAVL4	1996	hgsc.bcm.edu	37	1	50572025	50572025	+	5'Flank	SNP	G	G	A			TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chr1:50572025G>A	ENST00000371823.4	+	0	0				ELAVL4_ENST00000357083.4_Missense_Mutation_p.R7K|ELAVL4_ENST00000371824.1_5'Flank|ELAVL4_ENST00000448907.2_Intron|ELAVL4_ENST00000371827.1_Intron	NM_001144774.1|NM_021952.3	NP_001138246.1|NP_068771.2	P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4						mRNA processing (GO:0006397)|RNA processing (GO:0006396)		AU-rich element binding (GO:0017091)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						CTTCTTTTAAGGGAAATTGTC	0.478																																					p.R7K		Atlas-SNP	.											.	ELAVL4	124	.	0			c.G20A						.						96.0	93.0	94.0					1																	50572025		1568	3582	5150	SO:0001631	upstream_gene_variant	1996	exon1			TTTTAAGGGAAAT	AY033998	CCDS553.1, CCDS44138.1, CCDS44139.1, CCDS44140.1, CCDS53315.1, CCDS72788.1	1p34	2013-10-03	2013-10-03		ENSG00000162374	ENSG00000162374		"""RNA binding motif (RRM) containing"""	3315	protein-coding gene	gene with protein product	"""Hu antigen D"""	168360	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D)"", ""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4"""	HUD		8222755	Standard	XM_005270581		Approved	PNEM	uc001csb.2	P26378	OTTHUMG00000007877		chr1.hg19:g.50572025G>A	Exception_encountered	57.0	0.0		61.0	31.0	NM_001144775	B1APY6|B1APY7|B7Z4G7|Q8IYD4|Q96J74|Q96J75|Q9UD24	Missense_Mutation	SNP	ENST00000371823.4	hg19	CCDS553.1	.	.	.	.	.	.	.	.	.	.	G	13.33	2.205822	0.39003	.	.	ENSG00000162374	ENST00000357083	T	0.08984	3.03	4.99	4.99	0.66335	.	.	.	.	.	T	0.05044	0.0135	.	.	.	0.80722	D	1	B	0.28667	0.219	B	0.32090	0.14	T	0.15867	-1.0422	8	0.02654	T	1	.	14.4472	0.67359	0.0:0.147:0.853:0.0	.	7	P26378-3	.	K	7	ENSP00000349594:R7K	ENSP00000349594:R7K	R	+	2	0	ELAVL4	50344612	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.962000	0.63687	2.752000	0.94435	0.655000	0.94253	AGG	.	.		0.478	ELAVL4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000021712.1	NM_021952	
HENMT1	113802	hgsc.bcm.edu	37	1	109191343	109191343	+	Silent	SNP	G	G	A			TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chr1:109191343G>A	ENST00000370032.5	-	8	1447	c.1027C>T	c.(1027-1029)Ctg>Ttg	p.L343L	HENMT1_ENST00000402983.1_Silent_p.L343L|HENMT1_ENST00000370031.1_Silent_p.L374L|HENMT1_ENST00000493676.1_5'Flank	NM_144584.2	NP_653185.2	Q5T8I9	HENMT_HUMAN	HEN1 methyltransferase homolog 1 (Arabidopsis)	343					gene silencing by RNA (GO:0031047)|piRNA metabolic process (GO:0034587)|RNA methylation (GO:0001510)	P granule (GO:0043186)	metal ion binding (GO:0046872)|O-methyltransferase activity (GO:0008171)|RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	16						AGTCTCTGCAGAGGTACGAAA	0.473																																					p.L343L		Atlas-SNP	.											.	HENMT1	38	.	0			c.C1027T						.						116.0	107.0	110.0					1																	109191343		2203	4300	6503	SO:0001819	synonymous_variant	113802	exon8			TCTGCAGAGGTAC		CCDS787.1	1p13.3	2011-01-28	2011-01-28	2011-01-28	ENSG00000162639	ENSG00000162639			26400	protein-coding gene	gene with protein product	"""HEN1 methyltransferase homolog (Arabidopsis)"""	612178	"""chromosome 1 open reading frame 59"""	C1orf59			Standard	NM_144584		Approved	FLJ30525, HEN1	uc001dvt.4	Q5T8I9	OTTHUMG00000011123	ENST00000370032.5:c.1027C>T	chr1.hg19:g.109191343G>A		143.0	0.0		177.0	84.0	NM_144584	A8MRR6|B1AM16|B1AM17|Q96EJ7|Q96NN0	Silent	SNP	ENST00000370032.5	hg19	CCDS787.1																																																																																			.	.		0.473	HENMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030592.1	NM_144584	
BCL9	607	hgsc.bcm.edu	37	1	147096555	147096555	+	Missense_Mutation	SNP	C	C	A			TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chr1:147096555C>A	ENST00000234739.3	+	10	4816	c.4076C>A	c.(4075-4077)cCt>cAt	p.P1359H		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	1359	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					GGCATGATTCCTGGCAAGGAT	0.612			T	"""IGH@, IGL@"""	B-ALL																																p.P1359H		Atlas-SNP	.		Dom	yes		1	1q21	607	B-cell CLL/lymphoma 9		L	.	BCL9	150	.	0			c.C4076A						.						48.0	50.0	49.0					1																	147096555		2203	4300	6503	SO:0001583	missense	607	exon10			TGATTCCTGGCAA	Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.4076C>A	chr1.hg19:g.147096555C>A	ENSP00000234739:p.Pro1359His	73.0	0.0		83.0	25.0	NM_004326	Q5T489	Missense_Mutation	SNP	ENST00000234739.3	hg19	CCDS30833.1	.	.	.	.	.	.	.	.	.	.	C	18.09	3.545510	0.65198	.	.	ENSG00000116128	ENST00000234739	T	0.56444	0.46	5.32	5.32	0.75619	.	0.059328	0.64402	D	0.000001	T	0.59293	0.2183	L	0.36672	1.1	0.44539	D	0.997491	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.63594	-0.6602	10	0.72032	D	0.01	-8.9403	18.9922	0.92798	0.0:1.0:0.0:0.0	.	1359;1359	Q1JQ81;O00512	.;BCL9_HUMAN	H	1359	ENSP00000234739:P1359H	ENSP00000234739:P1359H	P	+	2	0	BCL9	145563179	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.301000	0.59086	2.486000	0.83907	0.650000	0.86243	CCT	.	.		0.612	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326	
RFX5	5993	hgsc.bcm.edu	37	1	151315600	151315600	+	Missense_Mutation	SNP	G	G	A			TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chr1:151315600G>A	ENST00000290524.4	-	11	1091	c.913C>T	c.(913-915)Cgg>Tgg	p.R305W	RFX5_ENST00000368870.2_Missense_Mutation_p.R305W|RFX5_ENST00000452513.2_Missense_Mutation_p.R265W|RP11-126K1.8_ENST00000422153.1_RNA|RFX5_ENST00000452671.2_Missense_Mutation_p.R305W|RFX5_ENST00000478564.1_5'Flank	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	305					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CTCTTCTTCCGCTCTCCACGT	0.567																																					p.R305W		Atlas-SNP	.											.	RFX5	69	.	0			c.C913T						.						32.0	38.0	36.0					1																	151315600		2187	4265	6452	SO:0001583	missense	5993	exon11			TCTTCCGCTCTCC		CCDS994.1	1q21	2014-09-17			ENSG00000143390	ENSG00000143390			9986	protein-coding gene	gene with protein product		601863				9401005	Standard	XM_005245405		Approved		uc001exw.1	P48382	OTTHUMG00000012495	ENST00000290524.4:c.913C>T	chr1.hg19:g.151315600G>A	ENSP00000290524:p.Arg305Trp	62.0	0.0		54.0	11.0	NM_000449	B7Z848|D3DV19|E9PFU4|Q5VWC3	Missense_Mutation	SNP	ENST00000290524.4	hg19	CCDS994.1	.	.	.	.	.	.	.	.	.	.	G	18.71	3.681418	0.68042	.	.	ENSG00000143390	ENST00000290524;ENST00000368870;ENST00000436637;ENST00000452671;ENST00000452513;ENST00000392746	T;T;T;T;T;T	0.78126	0.11;0.11;-1.15;0.11;0.11;0.12	5.65	4.73	0.59995	.	0.098879	0.43260	D	0.000595	T	0.81113	0.4755	M	0.63428	1.95	0.34831	D	0.739687	D;D	0.89917	1.0;1.0	D;D	0.79784	0.972;0.993	D	0.84430	0.0576	10	0.72032	D	0.01	-14.5474	11.4842	0.50344	0.0:0.0:0.6729:0.3271	.	265;305	B7Z848;P48382	.;RFX5_HUMAN	W	305;305;197;305;265;305	ENSP00000290524:R305W;ENSP00000357864:R305W;ENSP00000390769:R197W;ENSP00000389130:R305W;ENSP00000398388:R265W;ENSP00000376502:R305W	ENSP00000290524:R305W	R	-	1	2	RFX5	149582224	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	1.118000	0.31246	1.611000	0.50210	0.655000	0.94253	CGG	.	.		0.567	RFX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034892.6	NM_000449	
CACNA1E	777	hgsc.bcm.edu	37	1	181726159	181726159	+	Missense_Mutation	SNP	T	T	C			TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chr1:181726159T>C	ENST00000367573.2	+	30	4226	c.4226T>C	c.(4225-4227)gTc>gCc	p.V1409A	CACNA1E_ENST00000367567.4_Missense_Mutation_p.V1016A|CACNA1E_ENST00000357570.5_Missense_Mutation_p.V1360A|CACNA1E_ENST00000367570.1_Missense_Mutation_p.V1409A|CACNA1E_ENST00000526775.1_Missense_Mutation_p.V1390A|CACNA1E_ENST00000360108.3_Missense_Mutation_p.V1390A|CACNA1E_ENST00000358338.5_Missense_Mutation_p.V1341A	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1409					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TACTTTGTGGTCTTCCCCTTC	0.483																																					p.V1409A		Atlas-SNP	.											.	CACNA1E	778	.	0			c.T4226C						.						190.0	190.0	190.0					1																	181726159		1954	4168	6122	SO:0001583	missense	777	exon30			TTGTGGTCTTCCC	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.4226T>C	chr1.hg19:g.181726159T>C	ENSP00000356545:p.Val1409Ala	118.0	0.0		103.0	21.0	NM_001205293	B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	hg19	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	T	28.8	4.948970	0.92660	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.98684	-5.07;-5.07;-5.07;-5.07;-5.07;-5.07;-5.07	5.75	5.75	0.90469	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99324	0.9763	M	0.92880	3.355	0.80722	D	1	D;D;D	0.76494	0.989;0.999;0.996	P;D;D	0.85130	0.882;0.997;0.987	D	0.98900	1.0776	10	0.87932	D	0	.	15.7322	0.77814	0.0:0.0:0.0:1.0	.	1390;1409;1409	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	A	1409;1390;1360;1341;1016;1390;1409	ENSP00000356542:V1409A;ENSP00000434814:V1390A;ENSP00000350183:V1360A;ENSP00000351101:V1341A;ENSP00000356539:V1016A;ENSP00000353222:V1390A;ENSP00000356545:V1409A	ENSP00000350183:V1360A	V	+	2	0	CACNA1E	179992782	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.930000	0.87610	2.194000	0.70268	0.533000	0.62120	GTC	.	.		0.483	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721	
LHX9	56956	hgsc.bcm.edu	37	1	197898219	197898219	+	Missense_Mutation	SNP	C	C	A			TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chr1:197898219C>A	ENST00000367387.4	+	5	1449	c.1024C>A	c.(1024-1026)Ctt>Att	p.L342I	LHX9_ENST00000337020.2_Intron|LHX9_ENST00000561173.1_Intron|LHX9_ENST00000367391.1_Intron|LHX9_ENST00000367390.3_Missense_Mutation_p.L333I	NM_020204.2	NP_064589.2	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	342					cell proliferation (GO:0008283)|female gonad development (GO:0008585)|gonad morphogenesis (GO:0035262)|male gonad development (GO:0008584)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						CGGCACGTCGCTTCCGGCCCC	0.552																																					p.L342I		Atlas-SNP	.											.	LHX9	144	.	0			c.C1024A						.						72.0	75.0	74.0					1																	197898219		2203	4300	6503	SO:0001583	missense	56956	exon5			ACGTCGCTTCCGG	AJ277915	CCDS1393.1, CCDS30962.1	1q31.1	2011-06-20			ENSG00000143355	ENSG00000143355		"""Homeoboxes / LIM class"""	14222	protein-coding gene	gene with protein product		606066					Standard	NM_020204		Approved		uc001guk.1	Q9NQ69	OTTHUMG00000035656	ENST00000367387.4:c.1024C>A	chr1.hg19:g.197898219C>A	ENSP00000356357:p.Leu342Ile	170.0	0.0		203.0	121.0	NM_020204	Q5VUE2|Q5VUE3|Q5VUE6|Q86UH2|Q9BYU6|Q9NQ70	Missense_Mutation	SNP	ENST00000367387.4	hg19	CCDS1393.1	.	.	.	.	.	.	.	.	.	.	C	17.46	3.395909	0.62177	.	.	ENSG00000143355	ENST00000367390;ENST00000367387	D;D	0.89123	-2.46;-2.47	5.84	4.92	0.64577	.	0.127979	0.51477	N	0.000083	D	0.83862	0.5346	N	0.08118	0	0.45747	D	0.998646	P;P	0.46656	0.466;0.882	B;P	0.49752	0.294;0.621	D	0.84989	0.0893	10	0.36615	T	0.2	.	16.4627	0.84069	0.1321:0.8679:0.0:0.0	.	342;333	Q9NQ69;Q9NQ69-2	LHX9_HUMAN;.	I	333;342	ENSP00000356360:L333I;ENSP00000356357:L342I	ENSP00000356357:L342I	L	+	1	0	LHX9	196164842	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.656000	0.61483	1.460000	0.47911	0.591000	0.81541	CTT	.	.		0.552	LHX9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086547.2	NM_020204	
LAD1	3898	hgsc.bcm.edu	37	1	201355885	201355885	+	Missense_Mutation	SNP	T	T	C			TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chr1:201355885T>C	ENST00000391967.2	-	3	905	c.604A>G	c.(604-606)Atc>Gtc	p.I202V	LAD1_ENST00000367313.3_Missense_Mutation_p.I216V	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	202						basement membrane (GO:0005604)	structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						TTCTCAGAGATGGAGGTTTTA	0.473																																					p.I202V		Atlas-SNP	.											.	LAD1	42	.	0			c.A604G						.						95.0	105.0	102.0					1																	201355885		2203	4300	6503	SO:0001583	missense	3898	exon3			CAGAGATGGAGGT	U42408	CCDS1410.1	1q25.1-q32.3	2008-02-05			ENSG00000159166	ENSG00000159166			6472	protein-coding gene	gene with protein product		602314				8618013, 9119369	Standard	NM_005558		Approved		uc001gwm.3	O00515	OTTHUMG00000035737	ENST00000391967.2:c.604A>G	chr1.hg19:g.201355885T>C	ENSP00000375829:p.Ile202Val	80.0	0.0		76.0	30.0	NM_005558	O95614|Q96GD8	Missense_Mutation	SNP	ENST00000391967.2	hg19	CCDS1410.1	.	.	.	.	.	.	.	.	.	.	T	5.784	0.329037	0.10956	.	.	ENSG00000159166	ENST00000391967;ENST00000367313	T;T	0.10668	2.89;2.85	4.8	-9.59	0.00556	.	2.799430	0.00777	N	0.001256	T	0.03871	0.0109	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.06405	0.002;0.001	T	0.28808	-1.0032	10	0.07175	T	0.84	0.7371	5.9283	0.19124	0.0818:0.5835:0.2345:0.1002	.	216;202	E9PDI4;O00515	.;LAD1_HUMAN	V	202;216	ENSP00000375829:I202V;ENSP00000356282:I216V	ENSP00000356282:I216V	I	-	1	0	LAD1	199622508	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-2.536000	0.00940	-2.860000	0.00327	-0.256000	0.11100	ATC	.	.		0.473	LAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086946.1	NM_005558	
SOX11	6664	hgsc.bcm.edu	37	2	5833474	5833474	+	Silent	SNP	C	C	T			TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chr2:5833474C>T	ENST00000322002.3	+	1	676	c.621C>T	c.(619-621)ggC>ggT	p.G207G	AC108025.2_ENST00000453678.1_RNA|AC107057.2_ENST00000458264.1_RNA|AC010729.1_ENST00000455579.2_RNA|AC108025.2_ENST00000420221.1_RNA	NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN	SRY (sex determining region Y)-box 11	207	Poly-Gly.				cardiac ventricle formation (GO:0003211)|closure of optic fissure (GO:0061386)|cornea development in camera-type eye (GO:0061303)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|eyelid development in camera-type eye (GO:0061029)|glial cell development (GO:0021782)|glial cell proliferation (GO:0014009)|hard palate development (GO:0060022)|kidney development (GO:0001822)|lens morphogenesis in camera-type eye (GO:0002089)|limb bud formation (GO:0060174)|lung morphogenesis (GO:0060425)|negative regulation of cell death (GO:0060548)|negative regulation of gene expression (GO:0010629)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of lymphocyte proliferation (GO:0050672)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|neural crest cell development (GO:0014032)|neural tube formation (GO:0001841)|neuroepithelial cell differentiation (GO:0060563)|neuron differentiation (GO:0030182)|noradrenergic neuron differentiation (GO:0003357)|oligodendrocyte development (GO:0014003)|outflow tract morphogenesis (GO:0003151)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of hippo signaling (GO:0035332)|positive regulation of hormone secretion (GO:0046887)|positive regulation of lens epithelial cell proliferation (GO:2001111)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|signal transduction involved in cell cycle checkpoint (GO:0072395)|skeletal muscle cell differentiation (GO:0035914)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)|somite development (GO:0061053)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|translation (GO:0006412)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|nucleic acid binding transcription factor activity (GO:0001071)|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 coactivator activity (GO:0001105)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|translation factor activity, nucleic acid binding (GO:0008135)			central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		GCGTGAGCGGCTCGGGCGGCG	0.731																																					p.G207G		Atlas-SNP	.											.	SOX11	69	.	0			c.C621T						.						7.0	9.0	9.0					2																	5833474		1673	3501	5174	SO:0001819	synonymous_variant	6664	exon1			GAGCGGCTCGGGC		CCDS1654.1	2p25	2008-05-21			ENSG00000176887	ENSG00000176887		"""SRY (sex determining region Y)-boxes"""	11191	protein-coding gene	gene with protein product	"""SRY-related HMG-box gene 11"""	600898				8666406, 12637543	Standard	NM_003108		Approved		uc002qyj.3	P35716	OTTHUMG00000090333	ENST00000322002.3:c.621C>T	chr2.hg19:g.5833474C>T		9.0	0.0		23.0	14.0	NM_003108	Q4ZFV8	Silent	SNP	ENST00000322002.3	hg19	CCDS1654.1																																																																																			.	.		0.731	SOX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206698.1	NM_003108	
PPP1CB	5500	hgsc.bcm.edu	37	2	28975008	28975008	+	Silent	SNP	G	G	T			TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chr2:28975008G>T	ENST00000395366.2	+	1	290	c.18G>T	c.(16-18)ctG>ctT	p.L6L	PPP1CB_ENST00000358506.2_Silent_p.L6L|PPP1CB_ENST00000296122.6_Silent_p.L6L	NM_002709.2	NP_002700.1	P62140	PP1B_HUMAN	protein phosphatase 1, catalytic subunit, beta isozyme	6					cell division (GO:0051301)|circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|G2/M transition of mitotic cell cycle (GO:0000086)|glycogen metabolic process (GO:0005977)|mitotic cell cycle (GO:0000278)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of circadian rhythm (GO:0042752)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of glycogen catabolic process (GO:0005981)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)|triglyceride catabolic process (GO:0019433)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|glycogen granule (GO:0042587)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 1 complex (GO:0000164)|PTW/PP1 phosphatase complex (GO:0072357)	metal ion binding (GO:0046872)|myosin phosphatase activity (GO:0017018)|myosin-light-chain-phosphatase activity (GO:0050115)|phosphatase activity (GO:0016791)|protein kinase binding (GO:0019901)			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9	Acute lymphoblastic leukemia(172;0.155)					ACGGGGAGCTGAACGTGGACA	0.716																																					p.L6L		Atlas-SNP	.											.	PPP1CB	29	.	0			c.G18T						.						39.0	29.0	32.0					2																	28975008		1973	3768	5741	SO:0001819	synonymous_variant	5500	exon2			GGAGCTGAACGTG		CCDS33169.1	2p23	2013-01-18	2010-03-05		ENSG00000213639	ENSG00000213639	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9282	protein-coding gene	gene with protein product		600590	"""protein phosphatase 1, catalytic subunit, beta isoform"""			8312365	Standard	NM_002709		Approved	PP1B, PP-1B, PP1beta	uc002rmg.3	P62140	OTTHUMG00000152011	ENST00000395366.2:c.18G>T	chr2.hg19:g.28975008G>T		164.0	0.0		267.0	175.0	NM_206876	B2R5V4|D6W565|P37140|Q5U087|Q6FG45	Silent	SNP	ENST00000395366.2	hg19	CCDS33169.1																																																																																			.	.		0.716	PPP1CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324841.1		
IWS1	55677	hgsc.bcm.edu	37	2	128244217	128244217	+	Missense_Mutation	SNP	C	C	A			TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chr2:128244217C>A	ENST00000295321.4	-	13	2499	c.2240G>T	c.(2239-2241)gGa>gTa	p.G747V	AC010976.2_ENST00000595561.1_RNA|AC010976.2_ENST00000596439.1_RNA|AC010976.2_ENST00000599001.1_RNA|AC010976.2_ENST00000454503.2_RNA|AC010976.2_ENST00000598065.1_RNA	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	747	Interaction with SUPT6H and ALYREF.				mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of histone H3-K36 trimethylation (GO:2001253)|regulation of histone H4 acetylation (GO:0090239)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		GGCACAGAATCCAGGATCTCC	0.522																																					p.G747V		Atlas-SNP	.											.	IWS1	61	.	0			c.G2240T						.						95.0	88.0	90.0					2																	128244217		2203	4300	6503	SO:0001583	missense	55677	exon13			CAGAATCCAGGAT	AK000868	CCDS2146.1	2q14.3	2006-03-17			ENSG00000163166	ENSG00000163166			25467	protein-coding gene	gene with protein product							Standard	NM_017969		Approved	DKFZp761G0123, FLJ10006, FLJ14655, FLJ32319	uc002ton.2	Q96ST2	OTTHUMG00000131527	ENST00000295321.4:c.2240G>T	chr2.hg19:g.128244217C>A	ENSP00000295321:p.Gly747Val	87.0	0.0		77.0	23.0	NM_017969	Q2TB65|Q6P157|Q8N3E8|Q96MI7|Q9NV97|Q9NWH8	Missense_Mutation	SNP	ENST00000295321.4	hg19	CCDS2146.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.841389	0.91197	.	.	ENSG00000163166	ENST00000295321;ENST00000433551	T	0.42131	0.98	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.69342	0.3100	M	0.83483	2.645	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71407	-0.4602	9	.	.	.	-23.4974	19.4647	0.94932	0.0:1.0:0.0:0.0	.	747	Q96ST2	IWS1_HUMAN	V	747;700	ENSP00000295321:G747V	.	G	-	2	0	IWS1	127960687	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.770000	0.85390	2.592000	0.87571	0.655000	0.94253	GGA	.	.		0.522	IWS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254384.2	NM_017969	
TTN	7273	hgsc.bcm.edu	37	2	179632561	179632561	+	Silent	SNP	T	T	C			TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chr2:179632561T>C	ENST00000591111.1	-	40	9620	c.9396A>G	c.(9394-9396)ggA>ggG	p.G3132G	TTN_ENST00000360870.5_Silent_p.G3132G|TTN_ENST00000342175.6_Silent_p.G3086G|TTN_ENST00000359218.5_Silent_p.G3086G|TTN_ENST00000589042.1_Silent_p.G3132G|TTN_ENST00000342992.6_Silent_p.G3132G|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000460472.2_Silent_p.G3086G			Q8WZ42	TITIN_HUMAN	titin	13464	Ig-like 18.				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)			ACACGTTGCCTCCTGCCACCA	0.438																																					p.G3132G		Atlas-SNP	.											.	TTN	18412	.	0			c.A9396G						.						110.0	112.0	111.0					2																	179632561		2203	4300	6503	SO:0001819	synonymous_variant	7273	exon40			GTTGCCTCCTGCC	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.9396A>G	chr2.hg19:g.179632561T>C		82.0	0.0		75.0	20.0	NM_001267550	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	hg19																																																																																				.	.		0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
NYAP2	57624	hgsc.bcm.edu	37	2	226447694	226447694	+	Missense_Mutation	SNP	G	G	T	rs201097764	byFrequency	TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chr2:226447694G>T	ENST00000272907.6	+	4	1974	c.1561G>T	c.(1561-1563)Ggc>Tgc	p.G521C	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	521					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												CTTCTCCTCCGGCCGCAGCCT	0.701																																					p.G521C		Atlas-SNP	.											.	.	.	.	0			c.G1561T						.						11.0	14.0	13.0					2																	226447694		1871	4019	5890	SO:0001583	missense	57624	exon4			TCCTCCGGCCGCA	AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"""KIAA1486"""	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.1561G>T	chr2.hg19:g.226447694G>T	ENSP00000272907:p.Gly521Cys	118.0	0.0		102.0	33.0	NM_020864	A2RRN4|Q96NL2	Missense_Mutation	SNP	ENST00000272907.6	hg19	CCDS46529.1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.013863	0.54468	.	.	ENSG00000144460	ENST00000272907	T	0.78003	-1.14	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.87430	0.6175	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87772	0.2606	10	0.72032	D	0.01	-26.4774	19.7096	0.96089	0.0:0.0:1.0:0.0	.	35;521	Q9P242-3;Q9P242	.;K1486_HUMAN	C	521	ENSP00000272907:G521C	ENSP00000272907:G521C	G	+	1	0	KIAA1486	226155938	1.000000	0.71417	0.201000	0.23476	0.053000	0.15095	9.476000	0.97823	2.652000	0.90054	0.655000	0.94253	GGC	.	G|0.999;A|0.001		0.701	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864	
TRIP12	9320	hgsc.bcm.edu	37	2	230672462	230672462	+	Missense_Mutation	SNP	A	A	T			TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chr2:230672462A>T	ENST00000283943.5	-	16	2492	c.2314T>A	c.(2314-2316)Tgg>Agg	p.W772R	TRIP12_ENST00000389044.4_Missense_Mutation_p.W820R|TRIP12_ENST00000389045.3_Missense_Mutation_p.W475R|TRIP12_ENST00000543084.1_Intron	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	772	WWE. {ECO:0000255|PROSITE- ProRule:PRU00248}.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		TATGGATGCCAGAGGCCCCGA	0.458																																					p.W772R		Atlas-SNP	.											.	TRIP12	207	.	0			c.T2314A						.						168.0	139.0	149.0					2																	230672462		2203	4300	6503	SO:0001583	missense	9320	exon16			GATGCCAGAGGCC	L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.2314T>A	chr2.hg19:g.230672462A>T	ENSP00000283943:p.Trp772Arg	77.0	0.0		81.0	25.0	NM_004238	D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation	SNP	ENST00000283943.5	hg19	CCDS33391.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.525521	0.85600	.	.	ENSG00000153827	ENST00000283943;ENST00000389045;ENST00000389044	T;T;T	0.68903	0.32;-0.36;0.32	5.23	5.23	0.72850	WWE domain (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.80352	0.4607	M	0.67397	2.05	0.80722	D	1	D;D;D;D	0.76494	0.999;0.996;0.99;0.99	D;D;D;D	0.87578	0.998;0.992;0.969;0.969	T	0.82752	-0.0302	10	0.87932	D	0	.	15.424	0.75038	1.0:0.0:0.0:0.0	.	778;475;820;772	D4HL82;Q14CF1;Q14CA3;Q14669	.;.;.;TRIPC_HUMAN	R	772;475;820	ENSP00000283943:W772R;ENSP00000373697:W475R;ENSP00000373696:W820R	ENSP00000283943:W772R	W	-	1	0	TRIP12	230380706	1.000000	0.71417	0.993000	0.49108	0.991000	0.79684	9.135000	0.94478	2.103000	0.63969	0.383000	0.25322	TGG	.	.		0.458	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238	
FANCD2	2177	hgsc.bcm.edu	37	3	10083389	10083389	+	Silent	SNP	T	T	C			TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chr3:10083389T>C	ENST00000419585.1	+	10	939	c.778T>C	c.(778-780)Ttg>Ctg	p.L260L	FANCD2_ENST00000383807.1_Silent_p.L260L|FANCD2_ENST00000383806.1_Silent_p.L260L|FANCD2_ENST00000287647.3_Silent_p.L260L			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	260	Interaction with BRCA2.|Interaction with FANCE.				DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		AAACTTCCTATTGAAGGTAGA	0.438			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																												p.L260L		Atlas-SNP	.	yes	Rec		Fanconi anaemia D2	3	3p26	2177	"""Fanconi anemia, complementation group D2"""		L	.	FANCD2	253	.	0			c.T778C						.						84.0	81.0	82.0					3																	10083389		2203	4300	6503	SO:0001819	synonymous_variant	2177	exon10	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	TTCCTATTGAAGG	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.778T>C	chr3.hg19:g.10083389T>C		236.0	0.0		206.0	64.0	NM_001018115	Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Silent	SNP	ENST00000419585.1	hg19	CCDS33696.1																																																																																			.	.		0.438	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1		
ARMC8	25852	hgsc.bcm.edu	37	3	138009428	138009428	+	Silent	SNP	C	C	A			TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chr3:138009428C>A	ENST00000469044.1	+	21	2206	c.1935C>A	c.(1933-1935)atC>atA	p.I645I	NME9_ENST00000317876.4_Intron|ARMC8_ENST00000491704.1_Silent_p.I603I|ARMC8_ENST00000481646.1_Silent_p.I631I|ARMC8_ENST00000393058.3_Silent_p.I635I|ARMC8_ENST00000485396.1_Silent_p.I572I|NME9_ENST00000484930.1_Intron|NME9_ENST00000383180.2_Intron|ARMC8_ENST00000538260.1_Silent_p.I614I|ARMC8_ENST00000461822.1_Silent_p.I578I|NME9_ENST00000536478.1_Intron|NME9_ENST00000341790.5_Intron	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8	645										endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						ACATGGGCATCGTAGATATTC	0.428																																					p.I631I		Atlas-SNP	.											.	ARMC8	79	.	0			c.C1893A						.						79.0	75.0	77.0					3																	138009428		1916	4126	6042	SO:0001819	synonymous_variant	25852	exon22			GGGCATCGTAGAT		CCDS3098.1, CCDS54646.1, CCDS58853.1, CCDS58854.1, CCDS75020.1	3q22	2013-02-14			ENSG00000114098	ENSG00000114098		"""Armadillo repeat containing"""	24999	protein-coding gene	gene with protein product	"""GID complex subunit 5, VID28 homolog (S. cerevisiae)"""					11042152	Standard	NM_014154		Approved	HSPC056, DKFZP434A043, GID5, VID28	uc003esa.2	Q8IUR7	OTTHUMG00000159821	ENST00000469044.1:c.1935C>A	chr3.hg19:g.138009428C>A		98.0	0.0		124.0	46.0	NM_015396	A8K0L2|B7Z441|B7Z453|D3DNE6|F5GWK4|Q6PIL2|Q96D19|Q96HZ5|Q9NV02|Q9NV94|Q9Y4R9	Silent	SNP	ENST00000469044.1	hg19																																																																																				.	.		0.428	ARMC8-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000357560.1	NM_015396	
ZBBX	79740	hgsc.bcm.edu	37	3	167035353	167035353	+	Missense_Mutation	SNP	G	G	A	rs572404264		TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chr3:167035353G>A	ENST00000392766.2	-	13	1356	c.1016C>T	c.(1015-1017)cCa>cTa	p.P339L	ZBBX_ENST00000392767.2_Missense_Mutation_p.P339L|ZBBX_ENST00000455345.2_Missense_Mutation_p.P339L|ZBBX_ENST00000307529.5_Missense_Mutation_p.P339L|ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000392764.1_Missense_Mutation_p.P310L	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	339				P -> S (in Ref. 2; BAB15532). {ECO:0000305}.		intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						GAACGTATCTGGTAGCATTTT	0.358													G|||	1	0.000199681	0.0	0.0	5008	,	,		17152	0.0		0.0	False		,,,				2504	0.001				p.P339L		Atlas-SNP	.											.	ZBBX	299	.	0			c.C1016T						.						173.0	156.0	161.0					3																	167035353		1834	4085	5919	SO:0001583	missense	79740	exon13			GTATCTGGTAGCA	AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.1016C>T	chr3.hg19:g.167035353G>A	ENSP00000376519:p.Pro339Leu	89.0	0.0		174.0	58.0	NM_024687	A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Missense_Mutation	SNP	ENST00000392766.2	hg19	CCDS3199.2	.	.	.	.	.	.	.	.	.	.	G	12.89	2.073929	0.36566	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764	T;T;T;T;T	0.15603	2.59;2.59;2.57;2.57;2.41	4.78	0.915	0.19366	.	0.385688	0.25052	N	0.033512	T	0.11623	0.0283	L	0.39020	1.185	0.09310	N	1	B;B	0.20887	0.033;0.049	B;B	0.22601	0.04;0.026	T	0.19647	-1.0299	10	0.51188	T	0.08	-0.3935	5.3186	0.15870	0.1766:0.3181:0.5053:0.0	.	339;339	A8MT70-2;A8MT70	.;ZBBX_HUMAN	L	339;339;339;339;310	ENSP00000376519:P339L;ENSP00000376520:P339L;ENSP00000390232:P339L;ENSP00000305065:P339L;ENSP00000376517:P310L	ENSP00000305065:P339L	P	-	2	0	ZBBX	168518047	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.182000	0.16900	0.158000	0.19367	-0.181000	0.13052	CCA	.	.		0.358	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687	
DGKQ	1609	hgsc.bcm.edu	37	4	955623	955623	+	Splice_Site	SNP	C	C	T			TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chr4:955623C>T	ENST00000273814.3	-	20	2389		c.e20-1		DGKQ_ENST00000502309.1_5'Flank	NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa						blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|protein kinase C signaling (GO:0070528)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to ATP (GO:0033198)|thrombin receptor signaling pathway (GO:0070493)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|phospholipase binding (GO:0043274)			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GTTGTGCAGCCTGCAGGACGG	0.667																																					.	Esophageal Squamous(17;537 645 4447 26373)	Atlas-SNP	.											.	DGKQ	29	.	0			c.2316-1G>A						.						62.0	64.0	64.0					4																	955623		2202	4300	6502	SO:0001630	splice_region_variant	1609	exon21			TGCAGCCTGCAGG	L38707	CCDS3342.1	4p16.3	2008-08-29	2002-08-29		ENSG00000145214	ENSG00000145214			2856	protein-coding gene	gene with protein product		601207	"""diacylglycerol kinase, theta (110kD)"""	DAGK4		8617502, 9099683	Standard	NM_001347		Approved	DAGK, DAGK7	uc003gbw.4	P52824	OTTHUMG00000088629	ENST00000273814.3:c.2316-1G>A	chr4.hg19:g.955623C>T		37.0	0.0		31.0	10.0	NM_001347	Q6P3W4	Splice_Site	SNP	ENST00000273814.3	hg19	CCDS3342.1	.	.	.	.	.	.	.	.	.	.	C	11.90	1.777872	0.31502	.	.	ENSG00000145214	ENST00000273814;ENST00000509465	.	.	.	5.27	4.42	0.53409	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.5968	0.50979	0.0:0.912:0.0:0.088	.	.	.	.	.	-1	.	.	.	-	.	.	DGKQ	945623	1.000000	0.71417	0.992000	0.48379	0.157000	0.22087	3.425000	0.52771	1.216000	0.43427	0.556000	0.70494	.	.	.		0.667	DGKQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000200888.1		Intron
HTT	3064	hgsc.bcm.edu	37	4	3241612	3241612	+	Missense_Mutation	SNP	G	G	C			TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chr4:3241612G>C	ENST00000355072.5	+	67	9400	c.9255G>C	c.(9253-9255)caG>caC	p.Q3085H		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	3085					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		AGCTGGAGCAGGTGGACGTGA	0.577																																					p.Q3085H		Atlas-SNP	.											.	HTT	221	.	0			c.G9255C						.						32.0	34.0	34.0					4																	3241612		2156	4246	6402	SO:0001583	missense	3064	exon67			GGAGCAGGTGGAC	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.9255G>C	chr4.hg19:g.3241612G>C	ENSP00000347184:p.Gln3085His	84.0	0.0		77.0	14.0	NM_002111	Q9UQB7	Missense_Mutation	SNP	ENST00000355072.5	hg19	CCDS43206.1	.	.	.	.	.	.	.	.	.	.	G	9.826	1.187014	0.21870	.	.	ENSG00000197386	ENST00000355072	T	0.05319	3.46	5.0	-4.71	0.03279	.	0.392033	0.27027	N	0.021291	T	0.02807	0.0084	L	0.29908	0.895	0.30878	N	0.731785	B	0.02656	0.0	B	0.04013	0.001	T	0.41070	-0.9529	10	0.15952	T	0.53	.	1.821	0.03110	0.3015:0.2371:0.3433:0.1181	.	3085	P42858	HD_HUMAN	H	3085	ENSP00000347184:Q3085H	ENSP00000347184:Q3085H	Q	+	3	2	HTT	3211410	0.001000	0.12720	0.932000	0.37286	0.997000	0.91878	-0.660000	0.05317	-0.986000	0.03498	0.655000	0.94253	CAG	.	.		0.577	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111	
HOPX	84525	hgsc.bcm.edu	37	4	57522168	57522168	+	5'UTR	SNP	G	G	A			TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chr4:57522168G>A	ENST00000337881.7	-	0	655				HOPX_ENST00000420433.1_Missense_Mutation_p.T18I|HOPX_ENST00000555760.2_5'UTR|HOPX_ENST00000317745.7_5'UTR|HOPX_ENST00000503639.3_5'UTR|HOPX_ENST00000381255.3_5'UTR|HOPX_ENST00000508121.1_Missense_Mutation_p.T18I|HOPX_ENST00000556376.2_5'UTR|HOPX_ENST00000556614.2_5'UTR|HOPX_ENST00000381260.3_5'UTR|HOPX_ENST00000553379.2_5'UTR|HOPX_ENST00000554144.1_Missense_Mutation_p.T18I	NM_139212.3	NP_631958.1	Q9BPY8	HOP_HUMAN	HOP homeobox						heart development (GO:0007507)|histone deacetylation (GO:0016575)|lung alveolus development (GO:0048286)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of heart contraction (GO:0008016)|regulation of protein binding (GO:0043393)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	DNA binding (GO:0003677)			large_intestine(2)|lung(5)|skin(1)	8	Glioma(25;0.08)|all_neural(26;0.101)					CGCCGACATGGTCCCTGCGCG	0.706																																					p.T18I		Atlas-SNP	.											.	HOPX	28	.	0			c.C53T						.						41.0	37.0	39.0					4																	57522168		2202	4300	6502	SO:0001623	5_prime_UTR_variant	84525	exon3			GACATGGTCCCTG		CCDS3507.1, CCDS47062.1, CCDS54767.1	4q12	2011-06-20			ENSG00000171476	ENSG00000171476		"""Homeoboxes / PRD class"""	24961	protein-coding gene	gene with protein product	"""homeobox only domain"""	607275				12297045	Standard	NM_032495		Approved	LAGY, HOP, OB1, NECC1, SMAP31	uc003hbz.2	Q9BPY8	OTTHUMG00000128768	ENST00000337881.7:c.-2C>T	chr4.hg19:g.57522168G>A		39.0	0.0		46.0	12.0	NM_032495	A8K0Z2|E9PB55|G3V294|Q8N0V6|Q96CI1	Missense_Mutation	SNP	ENST00000337881.7	hg19	CCDS3507.1	.	.	.	.	.	.	.	.	.	.	G	4.676	0.125718	0.08931	.	.	ENSG00000171476	ENST00000420433;ENST00000554144;ENST00000508121	T;T	0.58358	0.34;0.34	4.77	4.77	0.60923	.	0.418184	0.18554	U	0.137828	T	0.40247	0.1109	N	0.08118	0	0.29114	N	0.880681	P;P	0.45126	0.851;0.59	P;B	0.46629	0.522;0.112	T	0.41998	-0.9477	10	0.62326	D	0.03	-13.7595	13.313	0.60390	0.0:0.0:1.0:0.0	.	18;18	G3V294;E9PB55	.;.	I	18	ENSP00000396275:T18I;ENSP00000422175:T18I	ENSP00000370659:T18I	T	-	2	0	HOPX	57216925	1.000000	0.71417	0.992000	0.48379	0.018000	0.09664	3.325000	0.52030	2.187000	0.69744	0.491000	0.48974	ACC	.	.		0.706	HOPX-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250689.4		
ANXA5	308	hgsc.bcm.edu	37	4	122602881	122602881	+	Silent	SNP	A	A	G			TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chr4:122602881A>G	ENST00000296511.5	-	6	624	c.339T>C	c.(337-339)atT>atC	p.I113I	ANXA5_ENST00000515017.1_Intron|ANXA5_ENST00000501272.2_Silent_p.I53I|ANXA5_ENST00000509016.1_5'UTR	NM_001154.3	NP_001145.1	P08758	ANXA5_HUMAN	annexin A5	113					blood coagulation (GO:0007596)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of coagulation (GO:0050819)|response to organic substance (GO:0010033)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|endothelial microparticle (GO:0072563)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipase inhibitor activity (GO:0004859)|phospholipid binding (GO:0005543)			NS(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)	15						TTGAAGCAATAATTTCTGTCA	0.323																																					p.I113I	Pancreas(191;1279 2147 16046 17806 52646)|GBM(88;628 1285 16585 32846 50188)	Atlas-SNP	.											.	ANXA5	29	.	0			c.T339C						.						203.0	190.0	195.0					4																	122602881		2203	4300	6503	SO:0001819	synonymous_variant	308	exon6			AGCAATAATTTCT	U05770	CCDS3720.1	4q27	2008-02-05			ENSG00000164111	ENSG00000164111		"""Annexins"""	543	protein-coding gene	gene with protein product		131230		ENX2, ANX5		2960376	Standard	NM_001154		Approved		uc003idv.4	P08758	OTTHUMG00000133034	ENST00000296511.5:c.339T>C	chr4.hg19:g.122602881A>G		57.0	0.0		90.0	25.0	NM_001154	D3DNW7|Q6FHB3|Q6FI16|Q8WV69|Q9UDH9	Silent	SNP	ENST00000296511.5	hg19	CCDS3720.1																																																																																			.	.		0.323	ANXA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256636.2	NM_001154	
NPY1R	4886	hgsc.bcm.edu	37	4	164246911	164246911	+	Splice_Site	SNP	C	C	G			TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chr4:164246911C>G	ENST00000296533.2	-	3	1231		c.e3-1		NPY1R_ENST00000509586.1_Splice_Site	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1						adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose metabolic process (GO:0006006)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|regulation of blood pressure (GO:0008217)|regulation of multicellular organism growth (GO:0040014)|sensory perception of pain (GO:0019233)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GTATATATATCTATGGAAGAA	0.318																																					.		Atlas-SNP	.											.	NPY1R	72	.	0			c.700-1G>C						.						46.0	45.0	45.0					4																	164246911		2202	4294	6496	SO:0001630	splice_region_variant	4886	exon4			ATATATCTATGGA		CCDS34089.1	4q31.3-q32	2012-08-08				ENSG00000164128		"""GPCR / Class A : Neuropeptide receptors : Y"""	7956	protein-coding gene	gene with protein product		162641		NPYR		8095935	Standard	NM_000909		Approved		uc003iqm.2	P25929		ENST00000296533.2:c.700-1G>C	chr4.hg19:g.164246911C>G		29.0	0.0		34.0	16.0	NM_000909	B2R6H5	Splice_Site	SNP	ENST00000296533.2	hg19	CCDS34089.1	.	.	.	.	.	.	.	.	.	.	C	12.12	1.841549	0.32513	.	.	ENSG00000164128	ENST00000296533;ENST00000512819	.	.	.	5.84	5.84	0.93424	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1512	0.98086	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NPY1R	164466361	1.000000	0.71417	0.999000	0.59377	0.610000	0.37248	3.636000	0.54317	2.771000	0.95319	0.655000	0.94253	.	.	.		0.318	NPY1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364685.1		Intron
FRG1	2483	hgsc.bcm.edu	37	4	190878551	190878551	+	Splice_Site	SNP	A	A	T			TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chr4:190878551A>T	ENST00000226798.4	+	6	654		c.e6-1		FRG1_ENST00000514482.1_Splice_Site	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1						mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.?(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		TGTTTCACTTAGGGGAAAATG	0.358																																					.		Atlas-SNP	.											FRG1,NS,malignant_melanoma,0,1	FRG1	76	.	1	Unknown(1)	NS(1)	c.433-2A>T						.						10.0	16.0	14.0					4																	190878551		2077	4234	6311	SO:0001630	splice_region_variant	2483	exon6			TCACTTAGGGGAA	L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.433-1A>T	chr4.hg19:g.190878551A>T		83.0	0.0		84.0	4.0	NM_004477	A8K775	Splice_Site	SNP	ENST00000226798.4	hg19	CCDS34121.1	.	.	.	.	.	.	.	.	.	.	N	13.55	2.270254	0.40194	.	.	ENSG00000109536	ENST00000226798;ENST00000524583;ENST00000531991	.	.	.	3.8	3.8	0.43715	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.8823	0.46946	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FRG1	191115545	1.000000	0.71417	1.000000	0.80357	0.407000	0.30961	9.035000	0.93752	1.517000	0.48917	0.373000	0.22412	.	.	.		0.358	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477	Intron
ICE1	23379	hgsc.bcm.edu	37	5	5463510	5463510	+	Missense_Mutation	SNP	C	C	G			TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chr5:5463510C>G	ENST00000296564.7	+	13	4285	c.4063C>G	c.(4063-4065)Caa>Gaa	p.Q1355E		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		1355					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TGCAGGCAGGCAAACCGATGG	0.557																																					p.Q1355E		Atlas-SNP	.											.	KIAA0947	301	.	0			c.C4063G						.						32.0	34.0	33.0					5																	5463510		2018	4176	6194	SO:0001583	missense	23379	exon13			GGCAGGCAAACCG																												ENST00000296564.7:c.4063C>G	chr5.hg19:g.5463510C>G	ENSP00000296564:p.Gln1355Glu	86.0	0.0		98.0	16.0	NM_015325	Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	ENST00000296564.7	hg19	CCDS47187.1	.	.	.	.	.	.	.	.	.	.	C	5.188	0.220180	0.09863	.	.	ENSG00000164151	ENST00000296564	T	0.08896	3.04	4.49	-0.376	0.12505	.	.	.	.	.	T	0.02571	0.0078	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.44590	-0.9318	9	0.02654	T	1	3.2374	0.8985	0.01269	0.1764:0.367:0.2571:0.1995	.	1355	Q9Y2F5	K0947_HUMAN	E	1355	ENSP00000296564:Q1355E	ENSP00000296564:Q1355E	Q	+	1	0	KIAA0947	5516510	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	0.294000	0.19047	0.124000	0.18369	0.305000	0.20034	CAA	.	.		0.557	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1		
MARVELD2	153562	hgsc.bcm.edu	37	5	68728859	68728859	+	Missense_Mutation	SNP	G	G	A			TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chr5:68728859G>A	ENST00000325631.5	+	5	1516	c.1442G>A	c.(1441-1443)aGg>aAg	p.R481K	MARVELD2_ENST00000413223.2_Missense_Mutation_p.R365K	NM_001038603.2|NM_001244734.1	NP_001033692.2|NP_001231663.1	Q8N4S9	MALD2_HUMAN	MARVEL domain containing 2	481					cell-cell junction organization (GO:0045216)|establishment of endothelial barrier (GO:0061028)|sensory perception of sound (GO:0007605)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|paranodal junction (GO:0033010)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		GCTGTCCTGAGGAAGTTTGAT	0.478																																					p.R481K		Atlas-SNP	.											.	MARVELD2	49	.	0			c.G1442A						.						138.0	130.0	133.0					5																	68728859		2203	4300	6503	SO:0001583	missense	153562	exon5			TCCTGAGGAAGTT	AK055094	CCDS34175.1, CCDS58956.1	5q13.1	2007-05-01	2004-07-12	2004-07-14	ENSG00000152939	ENSG00000152939			26401	protein-coding gene	gene with protein product	"""tricellulin"""	610572	"""MARVEL (membrane-associating) domain containing 2"", ""deafness, autosomal recessive 49"""	MRVLDC2, DFNB49		17186462	Standard	NM_001038603		Approved	FLJ30532, TRIC	uc003jwq.3	Q8N4S9	OTTHUMG00000162512	ENST00000325631.5:c.1442G>A	chr5.hg19:g.68728859G>A	ENSP00000323264:p.Arg481Lys	80.0	0.0		150.0	57.0	NM_001038603	A1BQX0|A1BQX1|A8KA97|Q96NM9	Missense_Mutation	SNP	ENST00000325631.5	hg19	CCDS34175.1	.	.	.	.	.	.	.	.	.	.	G	10.37	1.331234	0.24167	.	.	ENSG00000152939	ENST00000325631;ENST00000454295;ENST00000512803;ENST00000436532;ENST00000413223	T;T;T;T;T	0.21031	2.03;2.03;2.03;2.03;2.03	5.74	4.87	0.63330	Occludin/RNA polymerase II elongation factor, ELL domain (1);	0.044737	0.85682	D	0.000000	T	0.09730	0.0239	N	0.13098	0.295	0.25626	N	0.986356	B;B	0.11235	0.001;0.004	B;B	0.11329	0.003;0.006	T	0.36407	-0.9749	10	0.02654	T	1	-28.9945	8.2015	0.31428	0.2349:0.0:0.7651:0.0	.	469;481	Q8N4S9-3;Q8N4S9	.;MALD2_HUMAN	K	481;469;481;365;365	ENSP00000323264:R481K;ENSP00000396244:R469K;ENSP00000423490:R481K;ENSP00000414776:R365K;ENSP00000398922:R365K	ENSP00000323264:R481K	R	+	2	0	MARVELD2	68764615	1.000000	0.71417	0.963000	0.40424	0.581000	0.36288	4.148000	0.58085	1.424000	0.47217	0.655000	0.94253	AGG	.	.		0.478	MARVELD2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369583.1	NM_144724	
APC	324	hgsc.bcm.edu	37	5	112179485	112179485	+	Missense_Mutation	SNP	G	G	C			TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chr5:112179485G>C	ENST00000457016.1	+	16	8574	c.8194G>C	c.(8194-8196)Gac>Cac	p.D2732H	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.D2732H|APC_ENST00000508376.2_Missense_Mutation_p.D2732H			P25054	APC_HUMAN	adenomatous polyposis coli	2732	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GGATGCCCCTGACCAAAAAGG	0.433		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											p.D2732H	NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	Atlas-SNP	.	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	.	APC	4158	.	1	Unknown(1)	skin(1)	c.G8194C						.						76.0	75.0	76.0					5																	112179485		2202	4300	6502	SO:0001583	missense	324	exon17	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	GCCCCTGACCAAA	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.8194G>C	chr5.hg19:g.112179485G>C	ENSP00000413133:p.Asp2732His	108.0	0.0		123.0	28.0	NM_001127510	D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	hg19	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	G	16.97	3.269261	0.59540	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.83335	-1.71;-1.71;-1.71	6.02	6.02	0.97574	EB-1 binding (1);	0.059777	0.64402	D	0.000002	D	0.86146	0.5863	L	0.29908	0.895	0.54753	D	0.999989	D;D	0.63880	0.993;0.993	D;D	0.64144	0.922;0.922	D	0.83520	0.0085	9	.	.	.	-10.9108	20.5407	0.99260	0.0:0.0:1.0:0.0	.	2734;2732	Q4LE70;P25054	.;APC_HUMAN	H	2732	ENSP00000413133:D2732H;ENSP00000257430:D2732H;ENSP00000427089:D2732H	.	D	+	1	0	APC	112207384	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.114000	0.89570	2.865000	0.98341	0.655000	0.94253	GAC	.	.		0.433	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
FBN2	2201	hgsc.bcm.edu	37	5	127645697	127645697	+	Silent	SNP	G	G	A			TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chr5:127645697G>A	ENST00000508053.1	-	46	6152	c.5178C>T	c.(5176-5178)gtC>gtT	p.V1726V	FBN2_ENST00000262464.4_Silent_p.V1726V			P35556	FBN2_HUMAN	fibrillin 2	1726	EGF-like 28; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GGCCTCCATTGACCTGCATGT	0.458																																					p.V1726V		Atlas-SNP	.											.	FBN2	858	.	0			c.C5178T						.						104.0	95.0	98.0					5																	127645697		2203	4300	6503	SO:0001819	synonymous_variant	2201	exon40			TCCATTGACCTGC	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.5178C>T	chr5.hg19:g.127645697G>A		228.0	0.0		248.0	111.0	NM_001999	B4DU01|Q59ES6	Silent	SNP	ENST00000508053.1	hg19	CCDS34222.1																																																																																			.	.		0.458	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999	
PCDHA13	56136	hgsc.bcm.edu	37	5	140264043	140264043	+	Silent	SNP	C	C	A			TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chr5:140264043C>A	ENST00000289272.2	+	1	2190	c.2190C>A	c.(2188-2190)ggC>ggA	p.G730G	PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA13_ENST00000409494.1_Silent_p.G730G|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA11_ENST00000398640.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	730					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCACCGAGGGCGCGTGCGCGC	0.662																																					p.G730G	Melanoma(147;1739 1852 5500 27947 37288)	Atlas-SNP	.											.	PCDHA13	213	.	0			c.C2190A						.						61.0	65.0	64.0					5																	140264043		2202	4298	6500	SO:0001819	synonymous_variant	56136	exon1			CGAGGGCGCGTGC	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.2190C>A	chr5.hg19:g.140264043C>A		156.0	0.0		207.0	42.0	NM_031865	O75277	Silent	SNP	ENST00000289272.2	hg19	CCDS4240.1																																																																																			.	.		0.662	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904	
ATP10B	23120	hgsc.bcm.edu	37	5	160059337	160059337	+	Silent	SNP	A	A	G			TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chr5:160059337A>G	ENST00000327245.5	-	13	2265	c.1419T>C	c.(1417-1419)gaT>gaC	p.D473D	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	473					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACTCTTCACCATCTGAGTCCA	0.527																																					p.D473D		Atlas-SNP	.											.	ATP10B	201	.	0			c.T1419C						.						104.0	101.0	102.0					5																	160059337		1946	4133	6079	SO:0001819	synonymous_variant	23120	exon13			TTCACCATCTGAG	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.1419T>C	chr5.hg19:g.160059337A>G		65.0	0.0		89.0	18.0	NM_025153	Q9H725	Silent	SNP	ENST00000327245.5	hg19	CCDS43394.1																																																																																			.	.		0.527	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153	
CCNG1	900	hgsc.bcm.edu	37	5	162866373	162866373	+	Silent	SNP	T	T	C			TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chr5:162866373T>C	ENST00000340828.2	+	2	335	c.111T>C	c.(109-111)atT>atC	p.I37I	CCNG1_ENST00000504553.1_5'Flank|RP11-541P9.3_ENST00000503504.1_RNA|CCNG1_ENST00000393929.1_Silent_p.I37I|CCNG1_ENST00000510664.1_Intron|RP11-541P9.3_ENST00000458002.2_RNA|CCNG1_ENST00000511683.2_Intron|CCNG1_ENST00000512163.1_Intron	NM_004060.3	NP_004051.1	P51959	CCNG1_HUMAN	cyclin G1	37					brain development (GO:0007420)|cell growth (GO:0016049)|mitotic G2 DNA damage checkpoint (GO:0007095)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to organonitrogen compound (GO:0010243)|syncytium formation (GO:0006949)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0597)|OV - Ovarian serous cystadenocarcinoma(192;0.107)|Epithelial(171;0.164)		TGAGACTAATTGAGTCTGCAC	0.438																																					p.I37I		Atlas-SNP	.											.	CCNG1	28	.	0			c.T111C						.						138.0	128.0	131.0					5																	162866373		2203	4300	6503	SO:0001819	synonymous_variant	900	exon3			ACTAATTGAGTCT	D78341	CCDS4360.1	5q32-q34	2010-11-15			ENSG00000113328	ENSG00000113328			1592	protein-coding gene	gene with protein product		601578		CCNG		8954786, 8806701	Standard	NM_004060		Approved		uc003lzb.3	P51959	OTTHUMG00000130380	ENST00000340828.2:c.111T>C	chr5.hg19:g.162866373T>C		107.0	0.0		163.0	77.0	NM_199246	B2R7B2|B4DLW7|D3DQK7|Q15757|Q96L32	Silent	SNP	ENST00000340828.2	hg19	CCDS4360.1																																																																																			.	.		0.438	CCNG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252750.3	NM_004060	
FAM196B	100131897	hgsc.bcm.edu	37	5	169310696	169310696	+	Missense_Mutation	SNP	T	T	A			TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chr5:169310696T>A	ENST00000377365.3	-	2	1588	c.207A>T	c.(205-207)caA>caT	p.Q69H	DOCK2_ENST00000256935.8_Intron|DOCK2_ENST00000523351.1_Intron|FAM196B_ENST00000523970.1_5'Flank|DOCK2_ENST00000540750.1_Intron|DOCK2_ENST00000520908.1_Intron	NM_001129891.1	NP_001123363.1	A6NMK8	F196B_HUMAN	family with sequence similarity 196, member B	69										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)|skin(1)	5						GCCTGGTTGCTTGAGTCTTCC	0.557																																					p.Q69H		Atlas-SNP	.											.	FAM196B	28	.	0			c.A207T						.						126.0	127.0	127.0					5																	169310696		692	1591	2283	SO:0001583	missense	100131897	exon2			GGTTGCTTGAGTC		CCDS47336.1	5q35.1	2010-02-17	2009-09-11	2009-09-11	ENSG00000204767	ENSG00000204767			37271	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 57"""	C5orf57			Standard	NM_001129891		Approved		uc003mag.2	A6NMK8	OTTHUMG00000163083	ENST00000377365.3:c.207A>T	chr5.hg19:g.169310696T>A	ENSP00000366582:p.Gln69His	55.0	0.0		92.0	23.0	NM_001129891		Missense_Mutation	SNP	ENST00000377365.3	hg19	CCDS47336.1	.	.	.	.	.	.	.	.	.	.	T	11.39	1.625054	0.28889	.	.	ENSG00000204767	ENST00000377365	T	0.46451	0.87	5.43	-1.38	0.09027	.	0.451769	0.23398	N	0.048607	T	0.49201	0.1543	L	0.60455	1.87	0.09310	N	1	P	0.52692	0.955	P	0.56514	0.8	T	0.49978	-0.8881	10	0.66056	D	0.02	-5.4964	11.3764	0.49730	0.0:0.4331:0.0:0.5669	.	69	A6NMK8	F196B_HUMAN	H	69	ENSP00000366582:Q69H	ENSP00000366582:Q69H	Q	-	3	2	FAM196B	169243274	0.002000	0.14202	0.014000	0.15608	0.094000	0.18550	0.225000	0.17757	-0.179000	0.10654	0.533000	0.62120	CAA	.	.		0.557	FAM196B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371629.1	NM_001129891	
ATXN1	6310	hgsc.bcm.edu	37	6	16327864	16327864	+	Missense_Mutation	SNP	G	G	C			TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chr6:16327864G>C	ENST00000244769.4	-	8	1614	c.678C>G	c.(676-678)caC>caG	p.H226Q	ATXN1_ENST00000436367.1_Missense_Mutation_p.H226Q	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	226					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				CCCTGCTGAGGtgctgctgct	0.652																																					p.H226Q		Atlas-SNP	.											.,1	ATXN1	117	.	0			c.C678G						.						11.0	15.0	13.0					6																	16327864		2150	4194	6344	SO:0001583	missense	6310	exon7			GCTGAGGTGCTGC	X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"""Ataxins"""	10548	protein-coding gene	gene with protein product		601556	"""spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"""	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.678C>G	chr6.hg19:g.16327864G>C	ENSP00000244769:p.His226Gln	55.0	2.0		63.0	4.0	NM_001128164	Q17S02|Q9UJG2|Q9Y4J1	Missense_Mutation	SNP	ENST00000244769.4	hg19	CCDS34342.1	.	.	.	.	.	.	.	.	.	.	G	1.926	-0.447046	0.04572	.	.	ENSG00000124788	ENST00000244769;ENST00000450222;ENST00000436367	T;T	0.27256	1.68;1.68	4.74	0.503	0.16940	.	0.308295	0.34291	N	0.004091	T	0.05686	0.0149	L	0.39397	1.21	0.09310	N	0.999995	B	0.32245	0.361	B	0.28638	0.092	T	0.23976	-1.0173	10	0.48119	T	0.1	-16.8942	3.2876	0.06937	0.3032:0.0:0.385:0.3119	.	226	P54253	ATX1_HUMAN	Q	226	ENSP00000244769:H226Q;ENSP00000416360:H226Q	ENSP00000244769:H226Q	H	-	3	2	ATXN1	16435843	0.437000	0.25593	0.006000	0.13384	0.009000	0.06853	0.925000	0.28791	0.191000	0.20236	0.563000	0.77884	CAC	.	.		0.652	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332	
ATXN1	6310	hgsc.bcm.edu	37	6	16327924	16327924	+	Missense_Mutation	SNP	C	C	A	rs544512597	byFrequency	TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chr6:16327924C>A	ENST00000244769.4	-	8	1554	c.618G>T	c.(616-618)caG>caT	p.Q206H	ATXN1_ENST00000436367.1_Missense_Mutation_p.Q206H	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	206	Poly-Gln.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				gatgctgctgctgctgctgct	0.662													c|||	7	0.00139776	0.0038	0.0014	5008	,	,		13096	0.001		0.0	False		,,,				2504	0.0				p.Q206H		Atlas-SNP	.											.	ATXN1	117	.	0			c.G618T						.																																			SO:0001583	missense	6310	exon7			CTGCTGCTGCTGC	X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"""Ataxins"""	10548	protein-coding gene	gene with protein product		601556	"""spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"""	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.618G>T	chr6.hg19:g.16327924C>A	ENSP00000244769:p.Gln206His	32.0	0.0		51.0	6.0	NM_001128164	Q17S02|Q9UJG2|Q9Y4J1	Missense_Mutation	SNP	ENST00000244769.4	hg19	CCDS34342.1	.	.	.	.	.	.	.	.	.	.	c	5.966	0.362195	0.11296	.	.	ENSG00000124788	ENST00000244769;ENST00000450222;ENST00000436367	T;T	0.46063	0.88;0.88	0.0465	0.0465	0.14256	.	.	.	.	.	T	0.16727	0.0402	N	0.08118	0	0.09310	N	1	P	0.51240	0.943	P	0.55667	0.781	T	0.06338	-1.0832	8	0.56958	D	0.05	.	.	.	.	.	206	P54253	ATX1_HUMAN	H	206	ENSP00000244769:Q206H;ENSP00000416360:Q206H	ENSP00000244769:Q206H	Q	-	3	2	ATXN1	16435903	0.113000	0.22115	0.026000	0.17262	0.107000	0.19398	0.000000	0.12993	0.132000	0.18615	0.134000	0.15878	CAG	.	.		0.662	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332	
ZNF391	346157	hgsc.bcm.edu	37	6	27368930	27368930	+	Missense_Mutation	SNP	A	A	T			TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chr6:27368930A>T	ENST00000244576.4	+	3	1326	c.781A>T	c.(781-783)Atc>Ttc	p.I261F	RP1-153G14.4_ENST00000607727.1_lincRNA	NM_001076781.1	NP_001070249.1	Q9UJN7	ZN391_HUMAN	zinc finger protein 391	261					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	21						TTTCAGTTGGATCTCATCGCT	0.453																																					p.I261F		Atlas-SNP	.											.	ZNF391	90	.	0			c.A781T						.						67.0	72.0	70.0					6																	27368930		2201	4299	6500	SO:0001583	missense	346157	exon3			AGTTGGATCTCAT	BC132797	CCDS43429.1	6p21	2013-01-08			ENSG00000124613	ENSG00000124613		"""Zinc fingers, C2H2-type"""	18779	protein-coding gene	gene with protein product							Standard	NM_001076781		Approved	dJ153G14.3	uc003njf.1	Q9UJN7	OTTHUMG00000014477	ENST00000244576.4:c.781A>T	chr6.hg19:g.27368930A>T	ENSP00000244576:p.Ile261Phe	145.0	0.0		192.0	42.0	NM_001076781	B4DH77	Missense_Mutation	SNP	ENST00000244576.4	hg19	CCDS43429.1	.	.	.	.	.	.	.	.	.	.	A	4.570	0.105837	0.08780	.	.	ENSG00000124613	ENST00000244576	T	0.07567	3.18	4.0	2.8	0.32819	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01800	0.0057	N	0.25647	0.755	0.09310	N	1	P	0.43701	0.815	B	0.40677	0.337	T	0.44050	-0.9353	9	0.27785	T	0.31	.	4.6167	0.12430	0.6048:0.2011:0.0:0.1941	.	261	Q9UJN7	ZN391_HUMAN	F	261	ENSP00000244576:I261F	ENSP00000244576:I261F	I	+	1	0	ZNF391	27476909	0.000000	0.05858	0.762000	0.31397	0.942000	0.58702	-0.593000	0.05740	0.383000	0.24910	0.455000	0.32223	ATC	.	.		0.453	ZNF391-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040145.2	NM_001076781	
OR2J3	442186	hgsc.bcm.edu	37	6	29080176	29080176	+	Missense_Mutation	SNP	C	C	T			TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chr6:29080176C>T	ENST00000377169.1	+	1	509	c.509C>T	c.(508-510)cCt>cTt	p.P170L		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	170						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						TTCTGGGTACCTCTGTGTGGA	0.502																																					p.P170L		Atlas-SNP	.											.	OR2J3	53	.	0			c.C509T						.						155.0	166.0	162.0					6																	29080176		1300	2570	3870	SO:0001583	missense	442186	exon1			GGGTACCTCTGTG		CCDS43433.1	6p22.2-p21.31	2012-08-09			ENSG00000204701	ENSG00000204701		"""GPCR / Class A : Olfactory receptors"""	8261	protein-coding gene	gene with protein product		615016					Standard	NM_001005216		Approved	OR6-6	uc011dll.2	O76001	OTTHUMG00000031092	ENST00000377169.1:c.509C>T	chr6.hg19:g.29080176C>T	ENSP00000366374:p.Pro170Leu	128.0	0.0		125.0	57.0	NM_001005216	B0UY52|B9EH11|Q5SUJ7|Q6IF25|Q96R15|Q9GZK5|Q9GZL4|Q9GZL5	Missense_Mutation	SNP	ENST00000377169.1	hg19	CCDS43433.1	.	.	.	.	.	.	.	.	.	.	C	10.83	1.460920	0.26248	.	.	ENSG00000204701	ENST00000377169	T	0.00164	8.64	2.78	2.78	0.32641	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00241	0.0007	M	0.87682	2.9	0.35033	D	0.758945	D	0.53885	0.963	P	0.58780	0.845	T	0.61063	-0.7138	9	0.87932	D	0	.	13.5409	0.61672	0.0:1.0:0.0:0.0	.	170	O76001	OR2J3_HUMAN	L	170	ENSP00000366374:P170L	ENSP00000366374:P170L	P	+	2	0	OR2J3	29188155	0.000000	0.05858	0.107000	0.21349	0.053000	0.15095	0.205000	0.17356	1.549000	0.49425	0.436000	0.28706	CCT	.	.		0.502	OR2J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076132.2		
RXRB	6257	hgsc.bcm.edu	37	6	33164330	33164330	+	Missense_Mutation	SNP	C	C	A			TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chr6:33164330C>A	ENST00000374680.3	-	5	1085	c.874G>T	c.(874-876)Gct>Tct	p.A292S	RXRB_ENST00000374685.4_Missense_Mutation_p.A292S|RXRB_ENST00000544186.1_Missense_Mutation_p.A102S|RXRB_ENST00000413614.2_Missense_Mutation_p.A196S	NM_001270401.1|NM_021976.4	NP_001257330.1|NP_068811.1	P28702	RXRB_HUMAN	retinoid X receptor, beta	292	Hinge.				cardiac muscle cell proliferation (GO:0060038)|cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tazarotene(DB00799)|Tretinoin(DB00755)	GCTCCCCCAGCCCCCTCCCCA	0.632																																					p.A292S		Atlas-SNP	.											.	RXRB	34	.	0			c.G874T						.						54.0	69.0	64.0					6																	33164330		1509	2706	4215	SO:0001583	missense	6257	exon5			CCCCAGCCCCCTC	M84820	CCDS4768.1, CCDS59007.1	6p21.3	2013-01-16			ENSG00000204231	ENSG00000204231		"""Nuclear hormone receptors"""	10478	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 2"""	180246				8257090	Standard	NM_021976		Approved	NR2B2, H-2RIIBP, RCoR-1	uc003odc.4	P28702	OTTHUMG00000031298	ENST00000374680.3:c.874G>T	chr6.hg19:g.33164330C>A	ENSP00000363812:p.Ala292Ser	137.0	0.0		130.0	60.0	NM_021976	P28703|Q59G65|Q5JP92|Q5STQ1	Missense_Mutation	SNP	ENST00000374680.3	hg19	CCDS4768.1	.	.	.	.	.	.	.	.	.	.	C	8.973	0.973361	0.18736	.	.	ENSG00000204231	ENST00000374685;ENST00000374680;ENST00000544186;ENST00000413614	T;T;T;D	0.91945	-0.34;-0.34;-0.34;-2.94	4.97	4.97	0.65823	Nuclear hormone receptor, ligand-binding (1);	0.311148	0.35708	N	0.003039	T	0.60766	0.2294	N	0.03917	-0.325	0.32124	N	0.587684	B;B;B;B;B;B;B;B	0.31077	0.307;0.032;0.029;0.0;0.012;0.016;0.032;0.016	B;B;B;B;B;B;B;B	0.20767	0.031;0.021;0.008;0.001;0.008;0.007;0.013;0.007	T	0.57365	-0.7824	10	0.07482	T	0.82	.	9.1972	0.37235	0.0:0.9042:0.0:0.0958	.	196;292;175;102;292;292;332;292	B7Z3E4;B7Z6J2;B7Z6X3;E9PK95;Q5STQ1;Q5STP9;Q59G65;P28702	.;.;.;.;.;.;.;RXRB_HUMAN	S	292;292;102;196	ENSP00000363817:A292S;ENSP00000363812:A292S;ENSP00000439222:A102S;ENSP00000415561:A196S	ENSP00000363812:A292S	A	-	1	0	RXRB	33272308	0.673000	0.27539	1.000000	0.80357	0.987000	0.75469	1.150000	0.31639	2.577000	0.86979	0.549000	0.68633	GCT	.	.		0.632	RXRB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076642.2	NM_021976	
SNAP91	9892	hgsc.bcm.edu	37	6	84317435	84317435	+	Silent	SNP	A	A	T			TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chr6:84317435A>T	ENST00000439399.2	-	13	1321	c.1005T>A	c.(1003-1005)tcT>tcA	p.S335S	SNAP91_ENST00000520302.1_Silent_p.S333S|SNAP91_ENST00000521485.1_Silent_p.S335S|SNAP91_ENST00000428679.2_Silent_p.S335S|SNAP91_ENST00000437520.1_Silent_p.S319S|SNAP91_ENST00000520213.1_Silent_p.S319S|SNAP91_ENST00000521743.1_Silent_p.S335S|SNAP91_ENST00000369694.2_Silent_p.S335S|SNAP91_ENST00000195649.6_Silent_p.S335S	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	335					clathrin coat assembly (GO:0048268)|protein transport (GO:0015031)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		GGACAGCCGCAGATGCAGTTG	0.373																																					p.S335S		Atlas-SNP	.											.	SNAP91	199	.	0			c.T1005A						.						66.0	61.0	62.0					6																	84317435		1843	4085	5928	SO:0001819	synonymous_variant	9892	exon12			AGCCGCAGATGCA	AB014556	CCDS47455.1, CCDS56437.1, CCDS56438.1	6q15	2012-12-07	2012-12-07		ENSG00000065609	ENSG00000065609			14986	protein-coding gene	gene with protein product		607923	"""synaptosomal-associated protein, 91 kDa (mouse) homolog"", ""synaptosomal-associated protein, 91kDa homolog (mouse)"""			9734811, 12493563, 10436022	Standard	NM_014841		Approved	KIAA0656, AP180, CALM	uc003pka.3	O60641	OTTHUMG00000015114	ENST00000439399.2:c.1005T>A	chr6.hg19:g.84317435A>T		125.0	0.0		85.0	65.0	NM_001242792	A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Silent	SNP	ENST00000439399.2	hg19	CCDS47455.1																																																																																			.	.		0.373	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375296.1		
SLC16A10	117247	hgsc.bcm.edu	37	6	111543223	111543223	+	Missense_Mutation	SNP	C	C	A			TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chr6:111543223C>A	ENST00000368851.5	+	6	1508	c.1333C>A	c.(1333-1335)Ctg>Atg	p.L445M	SLC16A10_ENST00000368850.3_Missense_Mutation_p.L131M	NM_018593.4	NP_061063.2	Q8TF71	MOT10_HUMAN	solute carrier family 16 (aromatic amino acid transporter), member 10	445					amino acid transport (GO:0006865)|aromatic amino acid transport (GO:0015801)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)	12		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)	Droxidopa(DB06262)|Glycine(DB00145)|L-Alanine(DB00160)|L-Arginine(DB00125)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Cystine(DB00138)|L-DOPA(DB01235)|L-Glutamine(DB00130)|L-Histidine(DB00117)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Lysine(DB00123)|L-Methionine(DB00134)|L-Phenylalanine(DB00120)|L-Proline(DB00172)|L-Serine(DB00133)|L-Threonine(DB00156)|L-Tryptophan(DB00150)|L-Tyrosine(DB00135)|L-Valine(DB00161)|Liothyronine(DB00279)|Liotrix(DB01583)|Pyruvic acid(DB00119)	TCGTGACAAACTGGGCTCCTA	0.502																																					p.L445M		Atlas-SNP	.											.	SLC16A10	33	.	0			c.C1333A						.						129.0	123.0	125.0					6																	111543223		2203	4300	6503	SO:0001583	missense	117247	exon6			GACAAACTGGGCT	AF116652	CCDS5089.1	6q21-q22	2014-01-28	2013-07-18		ENSG00000112394	ENSG00000112394		"""Solute carriers"""	17027	protein-coding gene	gene with protein product		607550	"""solute carrier family 16 (monocarboxylic acid transporters), member 10"""			11278508, 11827462	Standard	NM_018593		Approved	TAT1, MCT10	uc003pus.3	Q8TF71	OTTHUMG00000015371	ENST00000368851.5:c.1333C>A	chr6.hg19:g.111543223C>A	ENSP00000357844:p.Leu445Met	129.0	0.0		105.0	12.0	NM_018593	B3KWY0|Q6ZMG0|Q8WVI5	Missense_Mutation	SNP	ENST00000368851.5	hg19	CCDS5089.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.026354	0.54683	.	.	ENSG00000112394	ENST00000368851;ENST00000368850	T;T	0.37235	1.21;1.21	5.52	2.61	0.31194	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.299915	0.32301	N	0.006282	T	0.27933	0.0688	L	0.54323	1.7	0.43793	D	0.996338	P	0.48640	0.913	P	0.52957	0.714	T	0.05733	-1.0867	10	0.54805	T	0.06	.	6.8449	0.23982	0.1327:0.6701:0.1279:0.0693	.	445	Q8TF71	MOT10_HUMAN	M	445;131	ENSP00000357844:L445M;ENSP00000357843:L131M	ENSP00000357843:L131M	L	+	1	2	SLC16A10	111649916	0.998000	0.40836	1.000000	0.80357	0.856000	0.48823	1.817000	0.39002	0.676000	0.31285	0.655000	0.94253	CTG	.	.		0.502	SLC16A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041822.2		
FAM184A	79632	hgsc.bcm.edu	37	6	119296226	119296226	+	Missense_Mutation	SNP	T	T	C			TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chr6:119296226T>C	ENST00000338891.7	-	13	3174	c.2731A>G	c.(2731-2733)Att>Gtt	p.I911V	FAM184A_ENST00000368475.4_Missense_Mutation_p.I791V|FAM184A_ENST00000521531.1_Missense_Mutation_p.I911V|FAM184A_ENST00000352896.5_Missense_Mutation_p.I791V|RP11-351A11.1_ENST00000518570.1_RNA	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	911						extracellular space (GO:0005615)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						ATTCTGAGAATTTCTTTCCCC	0.383																																					p.I911V		Atlas-SNP	.											.	FAM184A	109	.	0			c.A2731G						.						159.0	138.0	144.0					6																	119296226		1849	4096	5945	SO:0001583	missense	79632	exon13			TGAGAATTTCTTT	BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 60"""	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.2731A>G	chr6.hg19:g.119296226T>C	ENSP00000342604:p.Ile911Val	64.0	0.0		60.0	21.0	NM_024581	B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Missense_Mutation	SNP	ENST00000338891.7	hg19	CCDS43499.1	.	.	.	.	.	.	.	.	.	.	T	1.128	-0.653323	0.03480	.	.	ENSG00000111879	ENST00000521043;ENST00000338891;ENST00000352896;ENST00000368475;ENST00000521531	T;T;T;T	0.20200	2.63;2.62;2.1;2.09	5.4	3.03	0.35002	.	0.241182	0.38897	N	0.001537	T	0.01523	0.0049	N	0.01209	-0.955	0.80722	D	1	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.12837	0.002;0.008;0.003	T	0.47005	-0.9150	10	0.02654	T	1	-5.3401	8.1897	0.31361	0.0:0.3147:0.0:0.6853	.	911;791;911	Q8NB25-2;F8W8D6;Q8NB25	.;.;F184A_HUMAN	V	74;911;791;791;911	ENSP00000342604:I911V;ENSP00000326608:I791V;ENSP00000357460:I791V;ENSP00000430442:I911V	ENSP00000342604:I911V	I	-	1	0	FAM184A	119337925	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	3.097000	0.50251	0.451000	0.26802	0.528000	0.53228	ATT	.	.		0.383	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042009.3	NM_024581	
ADGB	79747	hgsc.bcm.edu	37	6	147049813	147049813	+	Missense_Mutation	SNP	A	A	G			TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chr6:147049813A>G	ENST00000397944.3	+	20	2532	c.2456A>G	c.(2455-2457)gAt>gGt	p.D819G	ADGB_ENST00000367493.3_Missense_Mutation_p.D238G	NM_024694.3	NP_078970.3	Q8N7X0	ADGB_HUMAN	androglobin	819					oxygen transport (GO:0015671)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			breast(1)|endometrium(2)|kidney(2)	5						GCTTTGAAGGATCTGCAAACA	0.418																																					p.D819G		Atlas-SNP	.											.	ADGB	93	.	0			c.A2456G						.						204.0	179.0	187.0					6																	147049813		692	1591	2283	SO:0001583	missense	79747	exon20			TGAAGGATCTGCA	AK026774		6q24.2	2012-02-03	2012-02-03	2012-02-03	ENSG00000118492	ENSG00000118492			21212	protein-coding gene	gene with protein product		614630	"""chromosome 6 open reading frame 103"""	C6orf103		22115833	Standard	NM_024694		Approved	FLJ23121, dJ408K24.1	uc010khx.3	Q8N7X0	OTTHUMG00000015758	ENST00000397944.3:c.2456A>G	chr6.hg19:g.147049813A>G	ENSP00000381036:p.Asp819Gly	89.0	0.0		61.0	26.0	NM_024694	Q5T402|Q5T904|Q5T905	Missense_Mutation	SNP	ENST00000397944.3	hg19		.	.	.	.	.	.	.	.	.	.	A	20.7	4.029161	0.75504	.	.	ENSG00000118492	ENST00000397944;ENST00000367493	T	0.33216	1.42	5.37	5.37	0.77165	Globin, structural domain (1);	.	.	.	.	T	0.19644	0.0472	L	0.54323	1.7	0.31376	N	0.679611	P	0.45531	0.86	B	0.42030	0.373	T	0.10474	-1.0628	9	0.66056	D	0.02	.	12.8941	0.58089	1.0:0.0:0.0:0.0	.	819	Q8N7X0	CAN7L_HUMAN	G	819;238	ENSP00000381036:D819G	ENSP00000356463:D238G	D	+	2	0	C6orf103	147091506	1.000000	0.71417	0.404000	0.26397	0.656000	0.38851	5.783000	0.68982	2.056000	0.61249	0.482000	0.46254	GAT	.	.		0.418	ADGB-009	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376350.2	NM_024694	
QKI	9444	hgsc.bcm.edu	37	6	163984603	163984603	+	Silent	SNP	C	C	T	rs368366293		TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chr6:163984603C>T	ENST00000361752.3	+	6	1337	c.786C>T	c.(784-786)gtC>gtT	p.V262V	QKI_ENST00000453779.2_Silent_p.V262V|QKI_ENST00000392127.2_Silent_p.V262V|QKI_ENST00000424802.3_Silent_p.V254V|QKI_ENST00000361195.2_Silent_p.V254V|QKI_ENST00000275262.7_Silent_p.V262V	NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN	QKI, KH domain containing, RNA binding	262					long-chain fatty acid biosynthetic process (GO:0042759)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|muscle cell differentiation (GO:0042692)|myelination (GO:0042552)|positive regulation of gene expression (GO:0010628)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)|spermatid development (GO:0007286)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		AGACCGCTGTCATGCCAAACG	0.547																																					p.V262V		Atlas-SNP	.											.	QKI	80	.	0			c.C786T						.						99.0	92.0	94.0					6																	163984603		2203	4300	6503	SO:0001819	synonymous_variant	9444	exon6			CGCTGTCATGCCA	AB067798	CCDS5285.1, CCDS5286.1, CCDS5287.1, CCDS43525.1, CCDS75546.1	6q26	2011-09-12	2011-09-12		ENSG00000112531	ENSG00000112531			21100	protein-coding gene	gene with protein product		609590	"""quaking homolog, KH domain RNA binding (mouse)"""			10535969	Standard	NM_006775		Approved	QK3	uc003qui.3	Q96PU8	OTTHUMG00000015977	ENST00000361752.3:c.786C>T	chr6.hg19:g.163984603C>T		63.0	0.0		36.0	27.0	NM_206853	Q2I375|Q5MJQ1|Q969L9|Q96EJ3|Q96KA3|Q96PU6|Q96PU7|Q9P0X6|Q9P0X7|Q9P0X8|Q9P0X9|Q9P0Y0|Q9P0Y1	Silent	SNP	ENST00000361752.3	hg19	CCDS5285.1	.	.	.	.	.	.	.	.	.	.	C	7.475	0.647449	0.14516	.	.	ENSG00000112531	ENST00000537883;ENST00000544361	.	.	.	6.02	6.02	0.97574	.	.	.	.	.	T	0.72526	0.3471	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68554	-0.5378	4	.	.	.	-2.2742	20.5407	0.99260	0.0:1.0:0.0:0.0	.	.	.	.	Y	159;96	.	.	H	+	1	0	QKI	163904593	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.962000	0.49176	2.865000	0.98341	0.655000	0.94253	CAT	.	.		0.547	QKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043016.2	NM_006775	
GRB10	2887	hgsc.bcm.edu	37	7	50680499	50680499	+	Nonsense_Mutation	SNP	A	A	T			TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chr7:50680499A>T	ENST00000401949.1	-	13	1602	c.1133T>A	c.(1132-1134)tTg>tAg	p.L378*	GRB10_ENST00000439599.1_Nonsense_Mutation_p.L372*|GRB10_ENST00000403097.1_Nonsense_Mutation_p.L372*|GRB10_ENST00000402497.1_Nonsense_Mutation_p.L320*|GRB10_ENST00000406641.1_Nonsense_Mutation_p.L320*|GRB10_ENST00000402578.1_Nonsense_Mutation_p.L320*|GRB10_ENST00000335866.3_Nonsense_Mutation_p.L320*|GRB10_ENST00000357271.5_Nonsense_Mutation_p.L332*|GRB10_ENST00000407526.1_Nonsense_Mutation_p.L320*|GRB10_ENST00000398812.2_Nonsense_Mutation_p.L378*|GRB10_ENST00000398810.2_Nonsense_Mutation_p.L320*			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	378	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of phosphorylation (GO:0042326)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of phosphorylation (GO:0042327)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|response to insulin (GO:0032868)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					TGCACAGAGCAACCTCAGCTC	0.473									Russell-Silver syndrome																												p.L378X		Atlas-SNP	.											.	GRB10	155	.	0			c.T1133A						.						122.0	127.0	125.0					7																	50680499		2133	4249	6382	SO:0001587	stop_gained	2887	exon10	Familial Cancer Database	Silver-Russell Dwarfism, Silver-Russell syndrome, SRS, Russel-Silver Dwarfism	CAGAGCAACCTCA		CCDS43582.1, CCDS43583.1, CCDS47586.1	7p12.2	2013-02-14			ENSG00000106070	ENSG00000106070		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4564	protein-coding gene	gene with protein product		601523					Standard	NM_005311		Approved		uc003tpi.2	Q13322	OTTHUMG00000150622	ENST00000401949.1:c.1133T>A	chr7.hg19:g.50680499A>T	ENSP00000385770:p.Leu378*	91.0	0.0		93.0	42.0	NM_005311	A4D258|A7VJ95|A8K0E6|D3DVM9|O00427|O00701|O75222|Q92606|Q92907|Q92948	Nonsense_Mutation	SNP	ENST00000401949.1	hg19	CCDS43582.1	.	.	.	.	.	.	.	.	.	.	A	41	8.648473	0.98899	.	.	ENSG00000106070	ENST00000398812;ENST00000439599;ENST00000335866;ENST00000398810;ENST00000402578;ENST00000403097;ENST00000406641;ENST00000357271;ENST00000407526;ENST00000401949;ENST00000402497	.	.	.	5.19	5.19	0.71726	.	0.108905	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-26.7824	15.0392	0.71774	1.0:0.0:0.0:0.0	.	.	.	.	X	378;372;320;320;320;372;320;332;320;378;320	.	ENSP00000338543:L320X	L	-	2	0	GRB10	50647993	1.000000	0.71417	0.967000	0.41034	0.549000	0.35272	9.334000	0.96470	1.955000	0.56771	0.533000	0.62120	TTG	.	.		0.473	GRB10-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319157.1		
PCLO	27445	hgsc.bcm.edu	37	7	82584100	82584100	+	Nonsense_Mutation	SNP	T	T	A			TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chr7:82584100T>A	ENST00000333891.9	-	5	6506	c.6169A>T	c.(6169-6171)Aaa>Taa	p.K2057*	PCLO_ENST00000423517.2_Nonsense_Mutation_p.K2057*	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TCTAGTAGTTTCCTTTCTTCT	0.448																																					p.K2057X		Atlas-SNP	.											.	PCLO	1506	.	0			c.A6169T						.						89.0	84.0	86.0					7																	82584100		1905	4117	6022	SO:0001587	stop_gained	27445	exon5			GTAGTTTCCTTTC	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.6169A>T	chr7.hg19:g.82584100T>A	ENSP00000334319:p.Lys2057*	67.0	0.0		98.0	15.0	NM_014510		Nonsense_Mutation	SNP	ENST00000333891.9	hg19	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	T	44	10.904087	0.99486	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	.	.	.	5.64	-1.55	0.08558	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.1613	0.65448	0.0:0.0736:0.7309:0.1954	.	.	.	.	X	1988;2057;2057	.	ENSP00000334319:K2057X	K	-	1	0	PCLO	82422036	0.002000	0.14202	0.001000	0.08648	0.056000	0.15407	0.474000	0.22148	-0.187000	0.10516	-0.375000	0.07067	AAA	.	.		0.448	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510	
MDFIC	29969	hgsc.bcm.edu	37	7	114563013	114563013	+	Missense_Mutation	SNP	C	C	G			TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chr7:114563013C>G	ENST00000257724.3	+	2	515	c.252C>G	c.(250-252)caC>caG	p.H84Q	MDFIC_ENST00000393486.1_5'UTR|MDFIC_ENST00000448022.1_5'UTR|MDFIC_ENST00000423503.1_5'UTR					MyoD family inhibitor domain containing											breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	8						CAGCACCTCACAGCCCTTCCT	0.632																																					p.H84Q		Atlas-SNP	.											.	MDFIC	30	.	0			c.C252G						.						6.0	7.0	7.0					7																	114563013		1842	3758	5600	SO:0001583	missense	29969	exon2			ACCTCACAGCCCT	AF054589	CCDS34737.1, CCDS55155.1	7q31.1-q31.2	2006-01-11			ENSG00000135272	ENSG00000135272			28870	protein-coding gene	gene with protein product		614511				10671520	Standard	NM_199072		Approved	HIC	uc003vhf.3	Q9P1T7	OTTHUMG00000023647	ENST00000257724.3:c.252C>G	chr7.hg19:g.114563013C>G	ENSP00000257724:p.His84Gln	80.0	0.0		88.0	32.0	NM_001166346		Missense_Mutation	SNP	ENST00000257724.3	hg19	CCDS34737.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.604389	0.46423	.	.	ENSG00000135272	ENST00000257724	.	.	.	3.96	-0.767	0.11016	.	2.267060	0.02040	N	0.049187	T	0.22126	0.0533	.	.	.	0.20563	N	0.999883	.	.	.	.	.	.	T	0.11299	-1.0593	6	0.20519	T	0.43	.	5.7921	0.18367	0.3625:0.2963:0.3412:0.0	.	.	.	.	Q	84	.	ENSP00000257724:H84Q	H	+	3	2	MDFIC	114350249	0.000000	0.05858	0.000000	0.03702	0.828000	0.46876	-0.232000	0.09055	-0.003000	0.14444	0.305000	0.20034	CAC	.	.		0.632	MDFIC-007	KNOWN	non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000366397.1	NM_199072	
WDR91	29062	hgsc.bcm.edu	37	7	134896232	134896232	+	Missense_Mutation	SNP	G	G	A			TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chr7:134896232G>A	ENST00000354475.4	-	1	54	c.23C>T	c.(22-24)aCt>aTt	p.T8I	WDR91_ENST00000423565.1_5'Flank|WDR91_ENST00000344400.5_Missense_Mutation_p.T8I	NM_014149.3	NP_054868.3	A4D1P6	WDR91_HUMAN	WD repeat domain 91	8										breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						CAGCTCGTCAGTGCGCTCCAC	0.692																																					p.T8I		Atlas-SNP	.											.	WDR91	82	.	0			c.C23T						.						38.0	39.0	39.0					7																	134896232		2203	4300	6503	SO:0001583	missense	29062	exon1			TCGTCAGTGCGCT	AF161534	CCDS34758.1	7q33	2013-01-09			ENSG00000105875	ENSG00000105875		"""WD repeat domain containing"""	24997	protein-coding gene	gene with protein product						11042152, 11230166	Standard	NM_014149		Approved	HSPC049	uc003vsp.2	A4D1P6	OTTHUMG00000155414	ENST00000354475.4:c.23C>T	chr7.hg19:g.134896232G>A	ENSP00000346466:p.Thr8Ile	134.0	0.0		183.0	84.0	NM_014149	A6NK54|C9JMI4|Q6FI65|Q6MZQ1|Q6P4I1|Q96AE5|Q96G63|Q9H062|Q9H9B6|Q9NVG7|Q9NZY6	Missense_Mutation	SNP	ENST00000354475.4	hg19	CCDS34758.1	.	.	.	.	.	.	.	.	.	.	G	31	5.064593	0.93898	.	.	ENSG00000105875	ENST00000344400;ENST00000354475	T;T	0.64618	1.45;-0.11	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.68366	0.2993	L	0.43757	1.38	0.80722	D	1	D	0.54207	0.965	P	0.58130	0.833	T	0.62324	-0.6878	10	0.21014	T	0.42	-5.92	18.0315	0.89286	0.0:0.0:1.0:0.0	.	8	A4D1P6	WDR91_HUMAN	I	8	ENSP00000340877:T8I;ENSP00000346466:T8I	ENSP00000340877:T8I	T	-	2	0	WDR91	134546772	1.000000	0.71417	0.954000	0.39281	0.985000	0.73830	8.034000	0.88864	2.593000	0.87608	0.655000	0.94253	ACT	.	.		0.692	WDR91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340019.1	NM_014149	
FAM131B	9715	hgsc.bcm.edu	37	7	143053918	143053918	+	Missense_Mutation	SNP	A	A	C			TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chr7:143053918A>C	ENST00000409408.1	-	6	2432	c.724T>G	c.(724-726)Tca>Gca	p.S242A	FAM131B_ENST00000409578.1_Missense_Mutation_p.S258A|FAM131B_ENST00000409346.1_Missense_Mutation_p.S242A|FAM131B_ENST00000409222.3_Missense_Mutation_p.S242A|FAM131B_ENST00000443739.2_Missense_Mutation_p.S270A			Q86XD5	F131B_HUMAN	family with sequence similarity 131, member B	242										breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					GAGTATCCTGAAGCTGGTTGG	0.597																																					p.S270A		Atlas-SNP	.											.	FAM131B	104	.	0			c.T808G						.						84.0	86.0	85.0					7																	143053918		2203	4300	6503	SO:0001583	missense	9715	exon7			ATCCTGAAGCTGG	BC045611	CCDS5882.1, CCDS47734.1	7q34	2007-03-20			ENSG00000159784	ENSG00000159784			22202	protein-coding gene	gene with protein product							Standard	NM_014690		Approved	KIAA0773	uc010lpa.3	Q86XD5	OTTHUMG00000152697	ENST00000409408.1:c.724T>G	chr7.hg19:g.143053918A>C	ENSP00000387017:p.Ser242Ala	71.0	0.0		72.0	19.0	NM_001031690	A4D2H6|A6NDW3|A8K605|B8ZZN2|D3DXE3|J3KQX2|Q7L0D6|Q86T97	Missense_Mutation	SNP	ENST00000409408.1	hg19	CCDS5882.1	.	.	.	.	.	.	.	.	.	.	A	2.752	-0.259893	0.05791	.	.	ENSG00000159784	ENST00000443739;ENST00000409578;ENST00000409346;ENST00000452076;ENST00000409408;ENST00000409222	T;T;T;T;T	0.22336	1.96;1.96;1.96;1.96;1.96	5.46	4.1	0.47936	.	0.643562	0.16382	N	0.216865	T	0.12092	0.0294	N	0.14661	0.345	0.09310	N	1	B;B	0.19073	0.015;0.033	B;B	0.16289	0.015;0.015	T	0.13953	-1.0490	10	0.34782	T	0.22	-33.6518	9.3677	0.38234	0.8473:0.0:0.1527:0.0	.	258;242	Q86XD5-2;Q86XD5	.;F131B_HUMAN	A	270;258;242;246;242;242	ENSP00000410603:S270A;ENSP00000386568:S258A;ENSP00000386984:S242A;ENSP00000387017:S242A;ENSP00000387147:S242A	ENSP00000387147:S242A	S	-	1	0	FAM131B	142764040	0.000000	0.05858	0.355000	0.25773	0.799000	0.45148	0.289000	0.18957	2.072000	0.62099	0.533000	0.62120	TCA	.	.		0.597	FAM131B-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328057.1	NM_014690	
DPP6	1804	hgsc.bcm.edu	37	7	154561209	154561209	+	Silent	SNP	T	T	C			TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chr7:154561209T>C	ENST00000377770.3	+	9	1107	c.966T>C	c.(964-966)cgT>cgC	p.R322R	DPP6_ENST00000332007.3_Silent_p.R260R|DPP6_ENST00000427557.1_Silent_p.R215R|DPP6_ENST00000404039.1_Silent_p.R258R			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	322					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)			ATGATTCCCGTGTCCCCATCA	0.547																																					p.R322R	NSCLC(125;1384 1783 2490 7422 34254)	Atlas-SNP	.											.	DPP6	383	.	0			c.T966C						.						66.0	67.0	67.0					7																	154561209		2005	4160	6165	SO:0001819	synonymous_variant	1804	exon9			TTCCCGTGTCCCC	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.966T>C	chr7.hg19:g.154561209T>C		100.0	0.0		104.0	18.0	NM_130797		Silent	SNP	ENST00000377770.3	hg19																																																																																				.	.		0.547	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	NM_130797	
MED30	90390	hgsc.bcm.edu	37	8	118533157	118533157	+	Silent	SNP	G	G	T	rs35108612		TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chr8:118533157G>T	ENST00000297347.3	+	1	206	c.42G>T	c.(40-42)ggG>ggT	p.G14G	MED30_ENST00000522839.1_Silent_p.G14G	NM_080651.2	NP_542382.1	Q96HR3	MED30_HUMAN	mediator complex subunit 30	14					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.G14G(2)		kidney(1)|lung(3)|prostate(3)	7	all_cancers(13;3.41e-25)|Lung NSC(37;3.02e-05)|Ovarian(258;0.00163)		STAD - Stomach adenocarcinoma(47;0.0266)			TGGCGCCCGGGCCCTTCGCCG	0.721																																					p.G14G	Melanoma(81;817 1341 9674 26244 29255)	Atlas-SNP	.											MED30,NS,carcinoma,0,2	MED30	15	.	2	Substitution - coding silent(2)	prostate(2)	c.G42T						.						9.0	11.0	10.0					8																	118533157		2159	4232	6391	SO:0001819	synonymous_variant	90390	exon1			GCCCGGGCCCTTC	AY083305	CCDS6323.1, CCDS64959.1	8q24.11	2007-07-30	2007-07-30	2007-07-30	ENSG00000164758	ENSG00000164758			23032	protein-coding gene	gene with protein product		610237	"""thyroid hormone receptor associated protein 6"""	THRAP6			Standard	NM_080651		Approved	TRAP25	uc003yoj.3	Q96HR3	OTTHUMG00000164920	ENST00000297347.3:c.42G>T	chr8.hg19:g.118533157G>T		120.0	0.0		122.0	63.0	NM_080651	C6GKU9	Silent	SNP	ENST00000297347.3	hg19	CCDS6323.1																																																																																			.	.		0.721	MED30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380923.1	NM_080651	
TTC16	158248	hgsc.bcm.edu	37	9	130482363	130482363	+	Missense_Mutation	SNP	T	T	C			TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chr9:130482363T>C	ENST00000373289.3	+	5	513	c.433T>C	c.(433-435)Tgc>Cgc	p.C145R	PTRH1_ENST00000429848.1_Intron|PTRH1_ENST00000419060.1_Intron|TTC16_ENST00000393748.4_5'UTR	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	145										central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						CCAGGGACAATGCCTTTTTGA	0.577																																					p.C145R		Atlas-SNP	.											.	TTC16	55	.	0			c.T433C						.						181.0	137.0	152.0					9																	130482363		2203	4300	6503	SO:0001583	missense	158248	exon5			GGACAATGCCTTT	AK057342	CCDS6875.1	9q34.13	2013-01-10			ENSG00000167094	ENSG00000167094		"""Tetratricopeptide (TTC) repeat domain containing"""	26536	protein-coding gene	gene with protein product						12477932	Standard	NM_144965		Approved	FLJ32780	uc004brq.1	Q8NEE8	OTTHUMG00000020711	ENST00000373289.3:c.433T>C	chr9.hg19:g.130482363T>C	ENSP00000362386:p.Cys145Arg	42.0	0.0		45.0	5.0	NM_144965	B4DYG4|B5ME24|Q5JU66|Q96M72	Missense_Mutation	SNP	ENST00000373289.3	hg19	CCDS6875.1	.	.	.	.	.	.	.	.	.	.	T	14.41	2.526889	0.44969	.	.	ENSG00000167094	ENST00000373289;ENST00000316259	T	0.51574	0.7	4.84	4.84	0.62591	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.055189	0.64402	D	0.000001	T	0.64605	0.2613	M	0.74881	2.28	0.80722	D	1	D;D;D	0.76494	0.999;0.991;0.999	D;P;D	0.63033	0.91;0.83;0.91	T	0.66480	-0.5913	10	0.44086	T	0.13	-24.4916	13.384	0.60785	0.0:0.0:0.0:1.0	.	132;97;145	B4DZ42;B4DH05;Q8NEE8	.;.;TTC16_HUMAN	R	145;90	ENSP00000362386:C145R	ENSP00000319048:C90R	C	+	1	0	TTC16	129522184	1.000000	0.71417	0.998000	0.56505	0.572000	0.35998	3.850000	0.55918	2.045000	0.60652	0.164000	0.16699	TGC	.	.		0.577	TTC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054224.1	NM_144965	
ZNF365	22891	hgsc.bcm.edu	37	10	64159446	64159446	+	Nonsense_Mutation	SNP	C	C	A			TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chr10:64159446C>A	ENST00000395254.3	+	5	1402	c.1122C>A	c.(1120-1122)tgC>tgA	p.C374*	ZNF365_ENST00000395255.3_Intron|ZNF365_ENST00000410046.3_Intron|ZNF365_ENST00000466727.1_3'UTR	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365	0										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					GAGACCTCTGCAGACCTCCAA	0.522																																					p.C374X		Atlas-SNP	.											.	ZNF365	174	.	0			c.C1122A						.						85.0	85.0	85.0					10																	64159446		2203	4300	6503	SO:0001587	stop_gained	22891	exon5			CCTCTGCAGACCT	AB020651	CCDS7264.1, CCDS7265.1, CCDS31209.1, CCDS41531.1	10q21.2	2008-10-28			ENSG00000138311	ENSG00000138311		"""Zinc fingers, C2H2-type"""	18194	protein-coding gene	gene with protein product	"""Talanin"""	607818				10048485, 12740763	Standard	NM_199450		Approved	KIAA0844, UAN	uc001jmc.2	Q70YC4	OTTHUMG00000018302	ENST00000395254.3:c.1122C>A	chr10.hg19:g.64159446C>A	ENSP00000378674:p.Cys374*	111.0	0.0		133.0	27.0	NM_014951		Nonsense_Mutation	SNP	ENST00000395254.3	hg19	CCDS31209.1	.	.	.	.	.	.	.	.	.	.	C	38	7.149790	0.98096	.	.	ENSG00000138311	ENST00000395254	.	.	.	5.76	3.86	0.44501	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	7.5414	0.27740	0.0:0.6128:0.2893:0.0979	.	.	.	.	X	374	.	ENSP00000378674:C374X	C	+	3	2	ZNF365	63829452	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	2.309000	0.43699	1.432000	0.47375	0.650000	0.86243	TGC	.	.		0.522	ZNF365-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048238.2	NM_014951	
MCMBP	79892	hgsc.bcm.edu	37	10	121616948	121616948	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chr10:121616948G>A	ENST00000360003.3	-	5	500	c.331C>T	c.(331-333)Caa>Taa	p.Q111*	MCMBP_ENST00000466047.1_5'UTR|MCMBP_ENST00000369077.3_Nonsense_Mutation_p.Q111*	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN	minichromosome maintenance complex binding protein	111					DNA-dependent DNA replication (GO:0006261)|mitotic nuclear division (GO:0007067)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)	p.Q111E(1)		breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						AGTTCTTGTTGAGGCTGTGAT	0.318																																					p.Q111X		Atlas-SNP	.											MCMBP,NS,carcinoma,0,1	MCMBP	49	.	1	Substitution - Missense(1)	lung(1)	c.C331T						.						100.0	97.0	98.0					10																	121616948		2203	4300	6503	SO:0001587	stop_gained	79892	exon5			CTTGTTGAGGCTG	BC007219	CCDS7617.1, CCDS58099.1	10q26.13	2013-10-11	2011-01-05	2011-01-05	ENSG00000197771	ENSG00000197771			25782	protein-coding gene	gene with protein product		610909	"""chromosome 10 open reading frame 119"""	C10orf119		17296731	Standard	NM_024834		Approved	FLJ13081, MCM-BP	uc001ler.3	Q9BTE3	OTTHUMG00000019159	ENST00000360003.3:c.331C>T	chr10.hg19:g.121616948G>A	ENSP00000353098:p.Gln111*	102.0	0.0		108.0	62.0	NM_024834	B3KSP7|Q6IA56|Q9BVT9|Q9H916	Nonsense_Mutation	SNP	ENST00000360003.3	hg19	CCDS7617.1	.	.	.	.	.	.	.	.	.	.	G	34	5.297721	0.95574	.	.	ENSG00000197771	ENST00000360003;ENST00000369077	.	.	.	5.77	5.77	0.91146	.	0.164006	0.44483	D	0.000450	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	-0.2118	20.0007	0.97408	0.0:0.0:1.0:0.0	.	.	.	.	X	111	.	ENSP00000353098:Q111X	Q	-	1	0	MCMBP	121606938	1.000000	0.71417	1.000000	0.80357	0.380000	0.30137	7.912000	0.87465	2.726000	0.93360	0.650000	0.86243	CAA	.	.		0.318	MCMBP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050684.1	NM_024834	
OR4X2	119764	hgsc.bcm.edu	37	11	48266850	48266850	+	Nonsense_Mutation	SNP	C	C	A			TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chr11:48266850C>A	ENST00000302329.3	+	1	243	c.195C>A	c.(193-195)taC>taA	p.Y65*		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	65						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						AGATCTGCTACTCCTCCGCTA	0.507																																					p.Y65X		Atlas-SNP	.											.	OR4X2	65	.	0			c.C195A						.						153.0	146.0	148.0					11																	48266850		2201	4298	6499	SO:0001587	stop_gained	119764	exon1			CTGCTACTCCTCC	AB065847	CCDS31486.1	11p11.2	2012-08-09			ENSG00000172208	ENSG00000172208		"""GPCR / Class A : Olfactory receptors"""	15184	protein-coding gene	gene with protein product							Standard	NM_001004727		Approved		uc001ngs.1	Q8NGF9	OTTHUMG00000165302	ENST00000302329.3:c.195C>A	chr11.hg19:g.48266850C>A	ENSP00000307751:p.Tyr65*	96.0	0.0		115.0	21.0	NM_001004727	B2RNK3|Q6IF73|Q96R63	Nonsense_Mutation	SNP	ENST00000302329.3	hg19	CCDS31486.1	.	.	.	.	.	.	.	.	.	.	C	11.17	1.558959	0.27827	.	.	ENSG00000172208	ENST00000302329	.	.	.	5.37	2.03	0.26663	.	0.000000	0.49305	D	0.000160	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.9005	0.41344	0.0:0.7302:0.0:0.2698	.	.	.	.	X	65	.	ENSP00000307751:Y65X	Y	+	3	2	OR4X2	48223426	0.000000	0.05858	0.964000	0.40570	0.141000	0.21300	-0.219000	0.09228	0.643000	0.30638	-0.142000	0.14014	TAC	.	.		0.507	OR4X2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383376.2	NM_001004727	
CREBZF	58487	hgsc.bcm.edu	37	11	85375448	85375448	+	Missense_Mutation	SNP	G	G	T			TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chr11:85375448G>T	ENST00000527447.1	-	1	698	c.472C>A	c.(472-474)Cgc>Agc	p.R158S	CREBZF_ENST00000398294.2_Missense_Mutation_p.R76S|CREBZF_ENST00000531515.1_Intron|CREBZF_ENST00000534224.1_Intron	NM_001039618.2	NP_001034707.1	Q9NS37	ZHANG_HUMAN	CREB/ATF bZIP transcription factor	158					negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)				TCAGAGAAGCGCTGCATTTCA	0.637											OREG0021274	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R158S	NSCLC(172;674 2044 9050 18334 41735)	Atlas-SNP	.											.	CREBZF	26	.	0			c.C472A						.						24.0	28.0	27.0					11																	85375448		2036	4204	6240	SO:0001583	missense	58487	exon1			AGAAGCGCTGCAT	AF039942	CCDS41697.1	11q14.1	2013-01-10			ENSG00000137504	ENSG00000137504		"""basic leucine zipper proteins"""	24905	protein-coding gene	gene with protein product	"""Zhangfei"""	606444				10871379	Standard	NM_001039618		Approved	ZF	uc001pas.2	Q9NS37	OTTHUMG00000133648	ENST00000527447.1:c.472C>A	chr11.hg19:g.85375448G>T	ENSP00000433459:p.Arg158Ser	85.0	0.0	1236	119.0	5.0	NM_001039618	B2R8Q9|Q0P5U9|Q52LT3	Missense_Mutation	SNP	ENST00000527447.1	hg19	CCDS41697.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.408920	0.83340	.	.	ENSG00000137504	ENST00000398294;ENST00000527447	.	.	.	4.56	4.56	0.56223	.	0.000000	0.38381	N	0.001705	T	0.55800	0.1943	N	0.24115	0.695	0.36563	D	0.872539	D	0.63880	0.993	D	0.71184	0.972	T	0.59742	-0.7397	8	.	.	.	-32.0326	12.725	0.57166	0.0:0.0:1.0:0.0	.	158	Q9NS37	ZHANG_HUMAN	S	76;158	.	.	R	-	1	0	CREBZF	85053096	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.998000	0.57024	2.366000	0.80165	0.561000	0.74099	CGC	.	.		0.637	CREBZF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390191.2	NM_001039618	
SYTL2	54843	hgsc.bcm.edu	37	11	85411633	85411633	+	Missense_Mutation	SNP	C	C	A			TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chr11:85411633C>A	ENST00000528231.1	-	15	2555	c.2278G>T	c.(2278-2280)Gca>Tca	p.A760S	SYTL2_ENST00000527523.1_Missense_Mutation_p.A728S|SYTL2_ENST00000533892.1_Missense_Mutation_p.A162S|SYTL2_ENST00000359152.5_Missense_Mutation_p.A1606S|SYTL2_ENST00000389958.3_Missense_Mutation_p.A191S|SYTL2_ENST00000529581.1_Missense_Mutation_p.A202S|SYTL2_ENST00000354566.3_Missense_Mutation_p.A1098S|SYTL2_ENST00000524452.1_Missense_Mutation_p.A736S|SYTL2_ENST00000316356.4_Missense_Mutation_p.A761S|SYTL2_ENST00000389960.4_Missense_Mutation_p.A736S|SYTL2_ENST00000525702.1_Missense_Mutation_p.A202S|SYTL2_ENST00000525423.1_Missense_Mutation_p.A1082S	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	760					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		GCAACTGGTGCTGTCTGAAAA	0.433																																					p.A1098S		Atlas-SNP	.											.	SYTL2	231	.	0			c.G3292T						.						197.0	182.0	187.0					11																	85411633		2203	4299	6502	SO:0001583	missense	54843	exon10			CTGGTGCTGTCTG	AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"""chromosome 11 synaptotagmin"", ""breast cancer-associated antigen SGA-72M"", ""protein phosphatase 1, regulatory subunit 151"""	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.2278G>T	chr11.hg19:g.85411633C>A	ENSP00000431701:p.Ala760Ser	58.0	0.0		69.0	33.0	NM_206927	B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Missense_Mutation	SNP	ENST00000528231.1	hg19	CCDS53688.1	.	.	.	.	.	.	.	.	.	.	C	11.00	1.510713	0.27036	.	.	ENSG00000137501	ENST00000389960;ENST00000359152;ENST00000354566;ENST00000316356;ENST00000525702;ENST00000525423;ENST00000529581;ENST00000389958;ENST00000530351;ENST00000528231;ENST00000533892;ENST00000527523;ENST00000524452	T;T;T;T;T;T;T;T;T;T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22	5.4	3.36	0.38483	.	0.611072	0.17980	N	0.155579	T	0.46171	0.1379	N	0.04880	-0.145	0.29799	N	0.832564	B;B;B;B;B;B;B;B;B;B	0.28026	0.049;0.097;0.059;0.049;0.097;0.198;0.198;0.198;0.001;0.004	B;B;B;B;B;B;B;B;B;B	0.36845	0.039;0.09;0.041;0.018;0.061;0.234;0.171;0.171;0.004;0.006	T	0.46261	-0.9204	9	.	.	.	-11.2216	10.0462	0.42188	0.1427:0.3957:0.4617:0.0	.	728;736;760;761;578;1058;1082;1098;191;162	Q9HCH5-14;Q9HCH5-6;Q9HCH5;Q9HCH5-13;Q9HCH5-15;Q9HCH5-11;Q9HCH5-7;Q9HCH5-8;Q9HCH5-9;Q9HCH5-4	.;.;SYTL2_HUMAN;.;.;.;.;.;.;.	S	736;1606;1098;761;202;1082;202;191;477;760;162;728;736	ENSP00000374610:A736S;ENSP00000352065:A1606S;ENSP00000346576:A1098S;ENSP00000318803:A761S;ENSP00000432996:A202S;ENSP00000432694:A1082S;ENSP00000435855:A202S;ENSP00000374608:A191S;ENSP00000435009:A477S;ENSP00000431701:A760S;ENSP00000432144:A162S;ENSP00000434010:A728S;ENSP00000435238:A736S	.	A	-	1	0	SYTL2	85089281	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	1.571000	0.36450	1.207000	0.43291	0.563000	0.77884	GCA	.	.		0.433	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1	NM_206927	
TMPRSS4	56649	hgsc.bcm.edu	37	11	117973865	117973865	+	Silent	SNP	C	C	T			TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chr11:117973865C>T	ENST00000437212.3	+	4	421	c.207C>T	c.(205-207)caC>caT	p.H69H	TMPRSS4_ENST00000522307.1_5'UTR|TMPRSS4_ENST00000523251.1_Silent_p.H29H|TMPRSS4_ENST00000522824.1_Silent_p.H69H|TMPRSS4_ENST00000534111.1_Silent_p.H67H			Q9NRS4	TMPS4_HUMAN	transmembrane protease, serine 4	69	LDL-receptor class A.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)		AGCCTCTCCACTTCATCCCGA	0.592																																					p.H69H		Atlas-SNP	.											.	TMPRSS4	46	.	0			c.C207T						.						143.0	140.0	141.0					11																	117973865		2200	4296	6496	SO:0001819	synonymous_variant	56649	exon4			TCTCCACTTCATC	AF179224	CCDS31684.1, CCDS44743.1, CCDS53716.1, CCDS53717.1	11q23.3	2010-04-13			ENSG00000137648	ENSG00000137648		"""Serine peptidases / Transmembrane"""	11878	protein-coding gene	gene with protein product	"""transmembrane serine protease 3"", ""membrane-type serine protease 2"", ""type II membrane serine protease"""	606565				10825129	Standard	NM_001083947		Approved	TMPRSS3, MT-SP2	uc021qrd.1	Q9NRS4	OTTHUMG00000164122	ENST00000437212.3:c.207C>T	chr11.hg19:g.117973865C>T		76.0	0.0		101.0	19.0	NM_019894	A8MU84|B0YJB0|B7Z8C5|E7ERX8|Q5XKQ6|Q6UX37|Q9NZA5	Silent	SNP	ENST00000437212.3	hg19	CCDS31684.1	.	.	.	.	.	.	.	.	.	.	C	1.741	-0.491691	0.04322	.	.	ENSG00000137648	ENST00000517544	.	.	.	5.16	4.21	0.49690	.	.	.	.	.	T	0.60157	0.2247	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57341	-0.7828	4	.	.	.	.	9.828	0.40923	0.1558:0.6935:0.1507:0.0	.	.	.	.	F	36	.	.	L	+	1	0	TMPRSS4	117479075	0.565000	0.26610	0.989000	0.46669	0.119000	0.20118	0.702000	0.25631	2.396000	0.81511	0.462000	0.41574	CTT	.	.		0.592	TMPRSS4-004	KNOWN	non_canonical_polymorphism|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377328.2	NM_019894	
GPR19	2842	hgsc.bcm.edu	37	12	12815252	12815252	+	Missense_Mutation	SNP	C	C	T			TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chr12:12815252C>T	ENST00000540510.1	-	2	323	c.131G>A	c.(130-132)aGt>aAt	p.S44N	GPR19_ENST00000332427.2_Missense_Mutation_p.S44N			P46093	GPR4_HUMAN	G protein-coupled receptor 19	0					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.048)		GTGCTCCTCACTTAATTCCAT	0.502																																					p.S44N		Atlas-SNP	.											.	GPR19	47	.	0			c.G131A						.						154.0	139.0	145.0					12																	12815252		2203	4300	6503	SO:0001583	missense	2842	exon4			TCCTCACTTAATT		CCDS8652.1	12p12.3	2014-01-30				ENSG00000183150		"""GPCR / Class A : Orphans"""	4473	protein-coding gene	gene with protein product		602927					Standard	NM_006143		Approved		uc001raq.2	Q15760		ENST00000540510.1:c.131G>A	chr12.hg19:g.12815252C>T	ENSP00000441832:p.Ser44Asn	159.0	0.0		149.0	46.0	NM_006143	A8K3T3|B0M0K1|Q6NWM4	Missense_Mutation	SNP	ENST00000540510.1	hg19	CCDS8652.1	.	.	.	.	.	.	.	.	.	.	C	0.167	-1.075678	0.01903	.	.	ENSG00000183150	ENST00000540510;ENST00000332427;ENST00000540796	T;T	0.68624	-0.34;-0.34	5.28	-5.54	0.02544	.	2.689110	0.01442	N	0.015129	T	0.42966	0.1226	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43097	-0.9412	10	0.10377	T	0.69	5.9676	11.4062	0.49900	0.0:0.2472:0.5973:0.1555	.	44	Q15760	GPR19_HUMAN	N	44	ENSP00000441832:S44N;ENSP00000333744:S44N	ENSP00000333744:S44N	S	-	2	0	GPR19	12706519	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.739000	0.04866	-1.230000	0.02561	-0.793000	0.03317	AGT	.	.		0.502	GPR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400662.1	NM_006143	
PTPRO	5800	hgsc.bcm.edu	37	12	15747937	15747937	+	Missense_Mutation	SNP	A	A	T			TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chr12:15747937A>T	ENST00000281171.4	+	26	3943	c.3613A>T	c.(3613-3615)Atc>Ttc	p.I1205F	PTPRO_ENST00000542557.1_Missense_Mutation_p.I366F|PTPRO_ENST00000445537.2_Missense_Mutation_p.I394F|PTPRO_ENST00000544244.1_Missense_Mutation_p.I366F|PTPRO_ENST00000442921.2_Missense_Mutation_p.I394F|PTPRO_ENST00000348962.2_Missense_Mutation_p.I1177F	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	1205					axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				GCAGTTCTGCATCAGTGATGT	0.433																																					p.I1205F		Atlas-SNP	.											.	PTPRO	148	.	0			c.A3613T						.						149.0	128.0	135.0					12																	15747937		2203	4300	6503	SO:0001583	missense	5800	exon26			TTCTGCATCAGTG	U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9678	protein-coding gene	gene with protein product	"""osteoclastic transmembrane protein-tyrosine phosphatase"""	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.3613A>T	chr12.hg19:g.15747937A>T	ENSP00000281171:p.Ile1205Phe	59.0	0.0		38.0	16.0	NM_030667	A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Missense_Mutation	SNP	ENST00000281171.4	hg19	CCDS8675.1	.	.	.	.	.	.	.	.	.	.	A	19.29	3.798678	0.70567	.	.	ENSG00000151490	ENST00000281171;ENST00000348962;ENST00000442921;ENST00000542557;ENST00000445537;ENST00000544244	T;T;T;T;T;T	0.04119	3.73;3.82;3.7;3.73;3.7;3.73	4.83	3.65	0.41850	.	0.000000	0.44097	D	0.000498	T	0.10380	0.0254	M	0.62723	1.935	0.48762	D	0.999705	P;D;D	0.65815	0.609;0.995;0.991	B;P;B	0.50314	0.13;0.637;0.433	T	0.02596	-1.1136	10	0.52906	T	0.07	.	10.8243	0.46622	0.8584:0.0:0.0:0.1416	.	366;1177;1205	Q9UBT5;Q16827-2;Q16827	.;.;PTPRO_HUMAN	F	1205;1177;394;366;394;366	ENSP00000281171:I1205F;ENSP00000343434:I1177F;ENSP00000404188:I394F;ENSP00000437571:I366F;ENSP00000393449:I394F;ENSP00000439234:I366F	ENSP00000281171:I1205F	I	+	1	0	PTPRO	15639204	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.798000	0.62510	0.824000	0.34613	0.533000	0.62120	ATC	.	.		0.433	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1		
PPFIA2	8499	hgsc.bcm.edu	37	12	81719606	81719606	+	Silent	SNP	C	C	A			TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chr12:81719606C>A	ENST00000549396.1	-	22	2752	c.2592G>T	c.(2590-2592)ggG>ggT	p.G864G	PPFIA2_ENST00000443686.3_Silent_p.G765G|PPFIA2_ENST00000550584.2_Silent_p.G864G|PPFIA2_ENST00000407050.4_Silent_p.G790G|PPFIA2_ENST00000549325.1_Silent_p.G846G|PPFIA2_ENST00000541017.1_Silent_p.G81G|PPFIA2_ENST00000541570.2_Silent_p.G431G|PPFIA2_ENST00000333447.7_Silent_p.G846G|PPFIA2_ENST00000552948.1_Silent_p.G864G|PPFIA2_ENST00000550359.2_Silent_p.G711G|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000548586.1_Silent_p.G864G	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	864					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						GTTTGCCTAACCCCAGGGACT	0.408																																					p.G864G		Atlas-SNP	.											.	PPFIA2	207	.	0			c.G2592T						.						78.0	77.0	78.0					12																	81719606		1846	4102	5948	SO:0001819	synonymous_variant	8499	exon21			GCCTAACCCCAGG	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.2592G>T	chr12.hg19:g.81719606C>A		51.0	0.0		85.0	34.0	NM_001220476	B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Silent	SNP	ENST00000549396.1	hg19	CCDS55857.1	.	.	.	.	.	.	.	.	.	.	C	9.758	1.169424	0.21621	.	.	ENSG00000139220	ENST00000551147	.	.	.	5.83	-3.19	0.05171	.	.	.	.	.	T	0.50188	0.1601	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45600	-0.9250	4	.	.	.	-14.7526	6.8542	0.24032	0.3025:0.1603:0.4731:0.0641	.	.	.	.	F	27	.	.	V	-	1	0	PPFIA2	80243737	0.058000	0.20735	0.961000	0.40146	0.922000	0.55478	-1.153000	0.03169	-0.530000	0.06349	-0.283000	0.09986	GTT	.	.		0.408	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1		
B3GNT4	79369	hgsc.bcm.edu	37	12	122691554	122691554	+	Silent	SNP	C	C	T			TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chr12:122691554C>T	ENST00000324189.4	+	3	1112	c.756C>T	c.(754-756)ccC>ccT	p.P252P	B3GNT4_ENST00000546192.1_Silent_p.P227P|B3GNT4_ENST00000535274.1_Silent_p.P227P|B3GNT4_ENST00000545141.1_Intron	NM_030765.2	NP_110392.1	Q9C0J1	B3GN4_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4	252					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222)		AAGCCCTGCCCAACAGGAACA	0.567																																					p.P252P		Atlas-SNP	.											.	B3GNT4	35	.	0			c.C756T						.						97.0	81.0	86.0					12																	122691554		2203	4300	6503	SO:0001819	synonymous_variant	79369	exon3			CCTGCCCAACAGG	AB049586	CCDS9227.1	12q24	2013-02-19						"""Beta 3-glycosyltransferases"""	15683	protein-coding gene	gene with protein product		605864				11042166	Standard	NM_030765		Approved	B3GN-T4, beta3Gn-T4	uc001ubx.3	Q9C0J1		ENST00000324189.4:c.756C>T	chr12.hg19:g.122691554C>T		55.0	0.0		51.0	21.0	NM_030765	Q8N5W4|Q8N934|Q8ND21|Q8WWR5|Q8WY02|Q96QH5	Silent	SNP	ENST00000324189.4	hg19	CCDS9227.1																																																																																			.	.		0.567	B3GNT4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000401595.1	NM_030765	
SOX21	11166	hgsc.bcm.edu	37	13	95363827	95363827	+	Silent	SNP	A	A	G			TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chr13:95363827A>G	ENST00000376945.2	-	1	562	c.477T>C	c.(475-477)gcT>gcC	p.A159A	SOX21-AS1_ENST00000438290.2_lincRNA	NM_007084.2	NP_009015.1	Q9Y651	SOX21_HUMAN	SRY (sex determining region Y)-box 21	159					hair follicle development (GO:0001942)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(3)|lung(1)|prostate(1)|skin(1)	6	all_neural(89;0.0646)|Medulloblastoma(90;0.163)					cggcggcggcagcggcggcgg	0.751																																					p.A159A		Atlas-SNP	.											.	SOX21	21	.	0			c.T477C						.						1.0	2.0	2.0					13																	95363827		715	1520	2235	SO:0001819	synonymous_variant	11166	exon1			GGCGGCAGCGGCG	AF107044	CCDS9473.1	13q31-q32	2008-07-18			ENSG00000125285	ENSG00000125285		"""SRY (sex determining region Y)-boxes"""	11197	protein-coding gene	gene with protein product	"""SRY-box 21"""	604974				10441749	Standard	NM_007084		Approved	SOX25	uc001vma.3	Q9Y651	OTTHUMG00000017209	ENST00000376945.2:c.477T>C	chr13.hg19:g.95363827A>G		13.0	0.0		32.0	16.0	NM_007084	P35715|Q15504|Q5TBS1	Silent	SNP	ENST00000376945.2	hg19	CCDS9473.1																																																																																			.	.		0.751	SOX21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045467.4	NM_007084	
UGGT2	55757	hgsc.bcm.edu	37	13	96599334	96599334	+	Missense_Mutation	SNP	G	G	A			TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chr13:96599334G>A	ENST00000376747.3	-	15	1704	c.1634C>T	c.(1633-1635)gCa>gTa	p.A545V		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	545					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-glucosylation (GO:0097359)	endoplasmic reticulum lumen (GO:0005788)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						AAATTCTTCTGCAATATAGTT	0.328																																					p.A545V		Atlas-SNP	.											.	UGGT2	127	.	0			c.C1634T						.						62.0	66.0	65.0					13																	96599334		2202	4299	6501	SO:0001583	missense	55757	exon15			TCTTCTGCAATAT	AF227906	CCDS9480.1	13q32.1	2009-07-23	2009-07-23	2009-07-23	ENSG00000102595	ENSG00000102595			15664	protein-coding gene	gene with protein product	"""UDP-glucose:glycoprotein glucosyltransferase 2"""	605898	"""UDP-glucose ceramide glucosyltransferase-like 2"""	UGCGL2		10694380	Standard	NM_020121		Approved	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360	uc001vmt.3	Q9NYU1	OTTHUMG00000017230	ENST00000376747.3:c.1634C>T	chr13.hg19:g.96599334G>A	ENSP00000365938:p.Ala545Val	242.0	0.0		321.0	148.0	NM_020121	A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Missense_Mutation	SNP	ENST00000376747.3	hg19	CCDS9480.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.680003	0.47886	.	.	ENSG00000102595	ENST00000376747	T	0.37058	1.22	5.82	3.06	0.35304	.	0.574837	0.19520	N	0.112318	T	0.27967	0.0689	L	0.50333	1.59	0.80722	D	1	B	0.12013	0.005	B	0.14023	0.01	T	0.05954	-1.0854	10	0.25106	T	0.35	-2.6196	6.0842	0.19958	0.2049:0.0:0.6638:0.1313	.	545	Q9NYU1	UGGG2_HUMAN	V	545	ENSP00000365938:A545V	ENSP00000365938:A545V	A	-	2	0	UGGT2	95397335	0.983000	0.35010	0.937000	0.37676	0.936000	0.57629	2.028000	0.41088	0.753000	0.32945	0.573000	0.79308	GCA	.	.		0.328	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045507.1	NM_020121	
AKAP6	9472	hgsc.bcm.edu	37	14	33293348	33293348	+	Missense_Mutation	SNP	A	A	T			TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chr14:33293348A>T	ENST00000280979.4	+	13	6499	c.6329A>T	c.(6328-6330)tAt>tTt	p.Y2110F	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	2110					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GGGGACTTTTATTCGTACTTA	0.463																																					p.Y2110F	Melanoma(49;821 1200 7288 13647 42351)	Atlas-SNP	.											.	AKAP6	308	.	0			c.A6329T						.						96.0	95.0	96.0					14																	33293348		2203	4300	6503	SO:0001583	missense	9472	exon13			ACTTTTATTCGTA	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.6329A>T	chr14.hg19:g.33293348A>T	ENSP00000280979:p.Tyr2110Phe	100.0	0.0		130.0	46.0	NM_004274	A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	hg19	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.189135	0.78789	.	.	ENSG00000151320	ENST00000280979	T	0.58797	0.31	6.03	6.03	0.97812	.	0.140928	0.48767	D	0.000176	T	0.72922	0.3521	M	0.69823	2.125	0.80722	D	1	D	0.67145	0.996	D	0.70227	0.968	T	0.75886	-0.3159	10	0.72032	D	0.01	-14.8253	11.6145	0.51080	0.8673:0.0:0.0:0.1327	.	2110	Q13023	AKAP6_HUMAN	F	2110	ENSP00000280979:Y2110F	ENSP00000280979:Y2110F	Y	+	2	0	AKAP6	32363099	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	7.211000	0.77933	2.308000	0.77769	0.533000	0.62120	TAT	.	.		0.463	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274	
FERMT2	10979	hgsc.bcm.edu	37	14	53345391	53345391	+	Missense_Mutation	SNP	A	A	C			TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chr14:53345391A>C	ENST00000395631.2	-	7	1088	c.872T>G	c.(871-873)aTc>aGc	p.I291S	FERMT2_ENST00000399304.3_Missense_Mutation_p.I291S|FERMT2_ENST00000343279.4_Missense_Mutation_p.I291S|FERMT2_ENST00000341590.3_Missense_Mutation_p.I291S|FERMT2_ENST00000553373.1_Missense_Mutation_p.I291S			Q96AC1	FERM2_HUMAN	fermitin family member 2	291	FERM.				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|focal adhesion assembly (GO:0048041)|integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|protein localization to membrane (GO:0072657)|regulation of cell shape (GO:0008360)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|stress fiber (GO:0001725)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)		ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					AAGCTGATTGATTCTGATTGC	0.363																																					p.I291S		Atlas-SNP	.											.	FERMT2	59	.	0			c.T872G						.						129.0	117.0	121.0					14																	53345391		2203	4300	6503	SO:0001583	missense	10979	exon7			TGATTGATTCTGA	Z24725	CCDS9713.1, CCDS45107.1, CCDS45108.1	14q22.1	2013-01-10	2010-06-24	2007-12-14	ENSG00000073712	ENSG00000073712		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	15767	protein-coding gene	gene with protein product	"""kindlin-2"""	607746	"""pleckstrin homology domain containing, family C (with FERM domain) member 1"", ""fermitin family homolog 2 (Drosophila)"""	PLEKHC1		8175911, 12697302	Standard	NM_006832		Approved	mig-2, KIND2, UNC112B	uc001xac.3	Q96AC1	OTTHUMG00000140309	ENST00000395631.2:c.872T>G	chr14.hg19:g.53345391A>C	ENSP00000378993:p.Ile291Ser	56.0	0.0		81.0	39.0	NM_001135000	B5TJY2|Q14840|Q86TY7	Missense_Mutation	SNP	ENST00000395631.2	hg19	CCDS9713.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.321867	0.81580	.	.	ENSG00000073712	ENST00000395631;ENST00000341590;ENST00000554152;ENST00000343279;ENST00000553373;ENST00000399304	T;T;T;T;T;T	0.80653	-1.4;-1.4;-1.4;-1.4;-1.4;-1.4	5.82	5.82	0.92795	Band 4.1 domain (1);FERM central domain (2);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.052499	0.85682	D	0.000000	D	0.89829	0.6828	M	0.80982	2.52	0.80722	D	1	P;P;P	0.50710	0.923;0.845;0.938	D;P;D	0.66979	0.913;0.882;0.948	D	0.91030	0.4863	10	0.87932	D	0	.	16.1777	0.81874	1.0:0.0:0.0:0.0	.	291;291;291	Q96AC1-2;Q96AC1;B5TJY2	.;FERM2_HUMAN;.	S	291;291;244;291;291;291	ENSP00000378993:I291S;ENSP00000340391:I291S;ENSP00000450741:I244S;ENSP00000342858:I291S;ENSP00000451084:I291S;ENSP00000382243:I291S	ENSP00000340391:I291S	I	-	2	0	FERMT2	52415141	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	9.287000	0.95975	2.222000	0.72286	0.383000	0.25322	ATC	.	.		0.363	FERMT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276907.2	NM_006832	
ADAM20	8748	hgsc.bcm.edu	37	14	70990870	70990870	+	Missense_Mutation	SNP	C	C	G			TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chr14:70990870C>G	ENST00000256389.3	-	2	999	c.755G>C	c.(754-756)tGg>tCg	p.W252S	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	202	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		ATGGGTCCACCAGCCCACAAA	0.408																																					p.W252S		Atlas-SNP	.											.	ADAM20	59	.	0			c.G755C						.						59.0	56.0	57.0					14																	70990870		2203	4300	6503	SO:0001583	missense	8748	exon2			GTCCACCAGCCCA	AF029899	CCDS32111.1	14q24.2	2012-04-30	2005-08-18		ENSG00000134007	ENSG00000134007		"""ADAM metallopeptidase domain containing"""	199	protein-coding gene	gene with protein product		603712	"""a disintegrin and metalloproteinase domain 20"""			9469942	Standard	NM_003814		Approved		uc001xme.3	O43506	OTTHUMG00000167548	ENST00000256389.3:c.755G>C	chr14.hg19:g.70990870C>G	ENSP00000256389:p.Trp252Ser	98.0	0.0		125.0	57.0	NM_003814	Q6GTZ1|Q9UKJ9	Missense_Mutation	SNP	ENST00000256389.3	hg19	CCDS32111.1	.	.	.	.	.	.	.	.	.	.	C	14.08	2.429048	0.43122	.	.	ENSG00000134007	ENST00000256389	T	0.00792	5.69	3.58	2.68	0.31781	Metallopeptidase, catalytic domain (1);	0.000000	0.37136	N	0.002236	T	0.01695	0.0054	M	0.82323	2.585	0.43394	D	0.995519	B	0.25904	0.137	B	0.26310	0.068	T	0.47548	-0.9109	10	0.54805	T	0.06	.	12.1339	0.53959	0.0:0.8263:0.1736:0.0	.	202	O43506	ADA20_HUMAN	S	252	ENSP00000256389:W252S	ENSP00000256389:W252S	W	-	2	0	ADAM20	70060623	0.809000	0.29036	0.693000	0.30195	0.000000	0.00434	0.975000	0.29449	1.060000	0.40578	-0.182000	0.12963	TGG	.	.		0.408	ADAM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395004.2		
CEP128	145508	hgsc.bcm.edu	37	14	81251871	81251871	+	Nonsense_Mutation	SNP	C	C	A			TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chr14:81251871C>A	ENST00000555265.1	-	15	1954	c.1579G>T	c.(1579-1581)Gaa>Taa	p.E527*	CEP128_ENST00000281129.3_Nonsense_Mutation_p.E527*			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	527						centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						GTTTTCAATTCATCCTTTTCT	0.363																																					p.E527X		Atlas-SNP	.											.	CEP128	146	.	0			c.G1579T						.						21.0	21.0	21.0					14																	81251871		2195	4239	6434	SO:0001587	stop_gained	145508	exon14			TCAATTCATCCTT	AK056756	CCDS32130.1	14q31.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000100629	ENSG00000100629			20359	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 61"", ""chromosome 14 open reading frame 145"""	C14orf61, C14orf145		21399614	Standard	NM_152446		Approved		uc001xux.2	Q6ZU80		ENST00000555265.1:c.1579G>T	chr14.hg19:g.81251871C>A	ENSP00000451162:p.Glu527*	72.0	0.0		114.0	19.0	NM_152446	B9EK52|Q86X97|Q96ML4	Nonsense_Mutation	SNP	ENST00000555265.1	hg19	CCDS32130.1	.	.	.	.	.	.	.	.	.	.	C	42	9.553027	0.99202	.	.	ENSG00000100629	ENST00000281129;ENST00000555265;ENST00000393619	.	.	.	5.75	5.75	0.90469	.	0.333709	0.31323	N	0.007846	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	.	20.3028	0.98618	0.0:1.0:0.0:0.0	.	.	.	.	X	527	.	ENSP00000281129:E527X	E	-	1	0	CEP128	80321624	1.000000	0.71417	0.997000	0.53966	0.910000	0.53928	3.056000	0.49923	2.876000	0.98609	0.643000	0.83706	GAA	.	.		0.363	CEP128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413415.1	NM_152446	
FMN1	342184	hgsc.bcm.edu	37	15	33256458	33256458	+	Splice_Site	SNP	G	G	T			TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chr15:33256458G>T	ENST00000559047.1	-	6	2987	c.2988C>A	c.(2986-2988)agC>agA	p.S996R	FMN1_ENST00000334528.9_Splice_Site_p.S773R|FMN1_ENST00000561249.1_Splice_Site_p.S898R			Q68DA7	FMN1_HUMAN	formin 1	996	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		TAGCATTTTGGCTTAAAAGAG	0.343																																					p.S773R		Atlas-SNP	.											.	FMN1	174	.	0			c.C2319A						.						113.0	104.0	107.0					15																	33256458		1810	4079	5889	SO:0001630	splice_region_variant	342184	exon5			ATTTTGGCTTAAA	AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"""limb deformity protein"""	136535	"""formin (limb deformity)"""	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.2988-1C>A	chr15.hg19:g.33256458G>T		92.0	0.0		134.0	29.0	NM_001103184	Q3B7I6|Q3ZAR4|Q6ZSY1	Missense_Mutation	SNP	ENST00000559047.1	hg19		.	.	.	.	.	.	.	.	.	.	G	10.36	1.328584	0.24167	.	.	ENSG00000248905	ENST00000334528	T	0.16196	2.36	5.06	4.14	0.48551	.	0.222047	0.53938	D	0.000051	T	0.06234	0.0161	N	0.04116	-0.275	.	.	.	B	0.17465	0.022	B	0.23574	0.047	T	0.19192	-1.0313	9	0.15952	T	0.53	.	2.5443	0.04733	0.1664:0.1581:0.5318:0.1436	.	773	Q68DA7-5	.	R	773	ENSP00000333950:S773R	ENSP00000333950:S773R	S	-	3	2	FMN1	31043750	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	1.874000	0.39568	1.120000	0.41904	-0.251000	0.11542	AGC	.	.		0.343	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	NM_001103184	Missense_Mutation
RFX7	64864	hgsc.bcm.edu	37	15	56385627	56385627	+	Silent	SNP	G	G	A			TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chr15:56385627G>A	ENST00000559447.2	-	9	4279	c.4008C>T	c.(4006-4008)tgC>tgT	p.C1336C	RFX7_ENST00000422057.1_Intron|RFX7_ENST00000317318.6_Intron|RFX7_ENST00000423270.1_Silent_p.C1433C			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	1336					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						TGGATTCACTGCAAATTTGTT	0.368																																					p.C1433C		Atlas-SNP	.											.	RFX7	170	.	0			c.C4299T						.						111.0	100.0	103.0					15																	56385627		1867	4103	5970	SO:0001819	synonymous_variant	64864	exon9			TTCACTGCAAATT			15q21.3	2008-08-04	2008-08-04	2008-08-04		ENSG00000181827			25777	protein-coding gene	gene with protein product		612660	"""regulatory factor X domain containing 2"""	RFXDC2			Standard	NM_022841		Approved	FLJ12994	uc010bfn.3	Q2KHR2		ENST00000559447.2:c.4008C>T	chr15.hg19:g.56385627G>A		64.0	0.0		69.0	9.0	NM_022841	Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Silent	SNP	ENST00000559447.2	hg19																																																																																				.	.		0.368	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	protein_coding	OTTHUMT00000418841.3	NM_022841	
APH1B	83464	hgsc.bcm.edu	37	15	63571387	63571387	+	Silent	SNP	G	G	A			TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chr15:63571387G>A	ENST00000261879.5	+	2	211	c.141G>A	c.(139-141)ctG>ctA	p.L47L	APH1B_ENST00000380343.4_Silent_p.L47L	NM_001145646.1|NM_031301.3	NP_001139118.1|NP_112591.2	Q8WW43	APH1B_HUMAN	APH1B gamma secretase subunit	47					apoptotic signaling pathway (GO:0097190)|membrane protein intracellular domain proteolysis (GO:0031293)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)	peptidase activity (GO:0008233)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	12						TGTCTCTACTGATTTCGTCCC	0.373																																					p.L47L		Atlas-SNP	.											.	APH1B	27	.	0			c.G141A						.						185.0	172.0	176.0					15																	63571387		2203	4300	6503	SO:0001819	synonymous_variant	83464	exon2			TCTACTGATTTCG	AY358698	CCDS10184.1, CCDS45276.1	15q22.2	2013-05-01	2013-05-01		ENSG00000138613	ENSG00000138613			24080	protein-coding gene	gene with protein product		607630	"""anterior pharynx defective 1 homolog B (C. elegans)"""			12110170, 11230166	Standard	NM_031301		Approved	PSFL, APH-1B, DKFZp564D0372	uc002ama.3	Q8WW43	OTTHUMG00000132863	ENST00000261879.5:c.141G>A	chr15.hg19:g.63571387G>A		105.0	0.0		104.0	28.0	NM_001145646	A8K589|Q564N3|Q6UWQ1|Q9H0S0	Silent	SNP	ENST00000261879.5	hg19	CCDS10184.1	.	.	.	.	.	.	.	.	.	.	G	17.18	3.324917	0.60634	.	.	ENSG00000138613	ENST00000380340	.	.	.	4.64	0.149	0.14863	.	.	.	.	.	T	0.67832	0.2935	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67480	-0.5660	5	0.87932	D	0	-6.7644	10.0704	0.42330	0.0:0.4192:0.437:0.1438	.	.	.	.	N	69	.	ENSP00000369697:D69N	D	+	1	0	APH1B	61358440	0.987000	0.35691	0.022000	0.16811	0.764000	0.43329	1.486000	0.35530	-0.150000	0.11195	0.462000	0.41574	GAT	.	.		0.373	APH1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256337.1	NM_031301	
GOLGA6B	55889	hgsc.bcm.edu	37	15	72955008	72955008	+	Missense_Mutation	SNP	G	G	C	rs199550549	byFrequency	TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chr15:72955008G>C	ENST00000421285.3	+	11	1263	c.1263G>C	c.(1261-1263)gaG>gaC	p.E421D	RN7SL853P_ENST00000477951.2_RNA	NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN	golgin A6 family, member B	421						Golgi apparatus (GO:0005794)		p.E421D(1)		NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						AGAAGGAGGAGAGGCTACAAA	0.587																																					p.E421D		Atlas-SNP	.											GOLGA6B,NS,malignant_melanoma,0,1	GOLGA6B	30	.	1	Substitution - Missense(1)	NS(1)	c.G1263C						.						1.0	1.0	1.0					15																	72955008		108	305	413	SO:0001583	missense	55889	exon11			GGAGGAGAGGCTA		CCDS10245.2	15q24.1	2011-10-25	2010-02-12		ENSG00000215186	ENSG00000215186			32205	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6B"""				Standard	XM_006720604		Approved		uc010uks.1	A6NDN3	OTTHUMG00000133511	ENST00000421285.3:c.1263G>C	chr15.hg19:g.72955008G>C	ENSP00000408132:p.Glu421Asp	68.0	0.0		44.0	3.0	NM_018652	A8MYY7	Missense_Mutation	SNP	ENST00000421285.3	hg19	CCDS10245.2	.	.	.	.	.	.	.	.	.	.	.	3.065	-0.192360	0.06259	.	.	ENSG00000215186	ENST00000421285	T	0.07444	3.19	.	.	.	.	.	.	.	.	T	0.06962	0.0177	L	0.47190	1.495	0.22888	N	0.99861	P	0.49961	0.93	B	0.40444	0.329	T	0.30208	-0.9986	8	0.62326	D	0.03	.	2.6645	0.05037	0.4931:0.0:0.5069:0.0	.	421	A6NDN3	GOG6B_HUMAN	D	421	ENSP00000408132:E421D	ENSP00000408132:E421D	E	+	3	2	GOLGA6B	70742062	0.998000	0.40836	0.134000	0.22075	0.265000	0.26407	0.636000	0.24644	0.088000	0.17205	0.089000	0.15464	GAG	.	G|1.000;|0.000		0.587	GOLGA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257474.4	NM_018652	
UBE2Q2	92912	hgsc.bcm.edu	37	15	76191767	76191767	+	Splice_Site	SNP	G	G	A			TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chr15:76191767G>A	ENST00000267938.4	+	13	1478		c.e13-1		UBE2Q2_ENST00000561851.1_Splice_Site|UBE2Q2_ENST00000569423.1_Splice_Site|UBE2Q2_ENST00000338677.4_Splice_Site	NM_173469.2	NP_775740.1	Q8WVN8	UB2Q2_HUMAN	ubiquitin-conjugating enzyme E2Q family member 2						protein K48-linked ubiquitination (GO:0070936)	cytoplasm (GO:0005737)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	12						TTCTATTTCAGGCTGGTACAC	0.308																																					.		Atlas-SNP	.											UBE2Q2,NS,carcinoma,0,1	UBE2Q2	26	.	0			c.1097-1G>A						.						90.0	83.0	85.0					15																	76191767		2197	4294	6491	SO:0001630	splice_region_variant	92912	exon13			ATTTCAGGCTGGT	BC017708	CCDS10286.1, CCDS45309.1, CCDS66839.1	15q24.2	2010-05-12	2008-05-02		ENSG00000140367	ENSG00000140367		"""Ubiquitin-conjugating enzymes E2"""	19248	protein-coding gene	gene with protein product		612501	"""ubiquitin-conjugating enzyme E2Q (putative) 2"""			16300736	Standard	NM_001145335		Approved	DKFZp762C143	uc002bbg.2	Q8WVN8	OTTHUMG00000142839	ENST00000267938.4:c.1097-1G>A	chr15.hg19:g.76191767G>A		41.0	0.0		15.0	11.0	NM_173469	B7Z3Q2|H3BRG2|Q8N4G6|Q96J08	Splice_Site	SNP	ENST00000267938.4	hg19	CCDS10286.1	.	.	.	.	.	.	.	.	.	.	G	19.88	3.909194	0.72868	.	.	ENSG00000140367	ENST00000338677;ENST00000267938;ENST00000426727	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.262	0.93971	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	UBE2Q2	73978822	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.702000	0.91338	2.797000	0.96272	0.650000	0.86243	.	.	.		0.308	UBE2Q2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286475.1	NM_173469	Intron
GTF3C1	2975	hgsc.bcm.edu	37	16	27549677	27549677	+	Splice_Site	SNP	C	C	A			TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chr16:27549677C>A	ENST00000356183.4	-	3	447	c.432G>T	c.(430-432)agG>agT	p.R144S	GTF3C1_ENST00000561623.1_Splice_Site_p.R144S	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	144					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TCTTCCCCCACCTGCAAATCG	0.478																																					p.R144S		Atlas-SNP	.											.	GTF3C1	210	.	0			c.G432T						.						57.0	54.0	55.0					16																	27549677		2197	4300	6497	SO:0001630	splice_region_variant	2975	exon3			CCCCCACCTGCAA	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.432-1G>T	chr16.hg19:g.27549677C>A		82.0	0.0		46.0	14.0	NM_001520	B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	hg19	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	C	15.78	2.935060	0.52866	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.29655	1.56	5.38	3.4	0.38934	.	0.116290	0.56097	D	0.000021	T	0.30792	0.0776	M	0.68593	2.085	0.35990	D	0.836665	P;P	0.52577	0.954;0.825	B;B	0.41813	0.33;0.367	T	0.48790	-0.9004	10	0.62326	D	0.03	.	9.2211	0.37377	0.0:0.7167:0.0:0.2833	.	144;144	Q12789;Q12789-3	TF3C1_HUMAN;.	S	144	ENSP00000348510:R144S	ENSP00000348510:R144S	R	-	3	2	GTF3C1	27457178	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	1.066000	0.30604	1.410000	0.46936	0.563000	0.77884	AGG	.	.		0.478	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520	Missense_Mutation
ALDOC	230	hgsc.bcm.edu	37	17	26900924	26900924	+	Silent	SNP	G	G	A	rs369962449		TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chr17:26900924G>A	ENST00000226253.4	-	8	1303	c.828C>T	c.(826-828)agC>agT	p.S276S	ALDOC_ENST00000395321.2_Silent_p.S276S|RP11-192H23.5_ENST00000585189.1_RNA|PIGS_ENST00000308360.7_5'Flank|PIGS_ENST00000543734.1_5'Flank|ALDOC_ENST00000395319.3_Silent_p.S248S|PIGS_ENST00000395346.2_5'Flank	NM_005165.2	NP_005156.1	P09972	ALDOC_HUMAN	aldolase C, fructose-bisphosphate	276					aging (GO:0007568)|apoptotic process (GO:0006915)|carbohydrate metabolic process (GO:0005975)|epithelial cell differentiation (GO:0030855)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|organ regeneration (GO:0031100)|protein heterotetramerization (GO:0051290)|protein homotetramerization (GO:0051289)|response to hypoxia (GO:0001666)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	cytoskeletal protein binding (GO:0008092)|fructose-bisphosphate aldolase activity (GO:0004332)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Lung NSC(42;0.00431)					CCTCTTCTTCGCTCTGACCCC	0.572													G|||	1	0.000199681	0.0	0.0	5008	,	,		19892	0.0		0.0	False		,,,				2504	0.001				p.S276S		Atlas-SNP	.											.	ALDOC	22	.	0			c.C828T						.	G		1,4405	2.1+/-5.4	0,1,2202	107.0	107.0	107.0		828	4.4	1.0	17		107	0,8600		0,0,4300	no	coding-synonymous	ALDOC	NM_005165.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		276/365	26900924	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	230	exon8			TTCTTCGCTCTGA	AF054987	CCDS11236.1	17q11.2	2013-09-20			ENSG00000109107	ENSG00000109107	4.1.2.13		418	protein-coding gene	gene with protein product		103870					Standard	XM_005257947		Approved		uc002hbp.3	P09972	OTTHUMG00000132605	ENST00000226253.4:c.828C>T	chr17.hg19:g.26900924G>A		85.0	0.0		89.0	29.0	NM_005165	B2R5R3|Q3SYL3|Q6FH94|Q6P0L5	Silent	SNP	ENST00000226253.4	hg19	CCDS11236.1																																																																																			.	.		0.572	ALDOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255839.4		
TRIM37	4591	hgsc.bcm.edu	37	17	57181690	57181690	+	Silent	SNP	A	A	T			TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chr17:57181690A>T	ENST00000262294.7	-	2	346	c.87T>A	c.(85-87)ccT>ccA	p.P29P	TRIM37_ENST00000376149.3_5'UTR|TRIM37_ENST00000584889.1_Silent_p.P29P|AC099850.1_ENST00000451775.1_RNA|TRIM37_ENST00000393066.3_Silent_p.P29P|TRIM37_ENST00000393065.2_Intron	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN	tripartite motif containing 37	29					aggresome assembly (GO:0070842)|negative regulation of centriole replication (GO:0046600)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autoubiquitination (GO:0051865)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisome (GO:0005777)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TGGAGCAATGAGGACACAGGC	0.368									Mulibrey Nanism																												p.P29P		Atlas-SNP	.											.	TRIM37	105	.	0			c.T87A						.						89.0	80.0	83.0					17																	57181690		2203	4300	6503	SO:0001819	synonymous_variant	4591	exon2	Familial Cancer Database	Perheentupa syndrome	GCAATGAGGACAC	AB020705	CCDS32694.1, CCDS45746.1	17q	2014-02-17	2011-01-25	2001-11-30		ENSG00000108395		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	7523	protein-coding gene	gene with protein product	"""RING-B-box-coiled-coil protein"""	605073	"""tripartite motif-containing 37"""	MUL		9106536, 10888877	Standard	NM_015294		Approved	KIAA0898, POB1, TEF3	uc002iwy.4	O94972		ENST00000262294.7:c.87T>A	chr17.hg19:g.57181690A>T		253.0	1.0		547.0	278.0	NM_015294	Q7Z3E6|Q8IYF7|Q8WYF7	Silent	SNP	ENST00000262294.7	hg19	CCDS32694.1																																																																																			.	.		0.368	TRIM37-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445930.1	NM_015294	
MED13	9969	hgsc.bcm.edu	37	17	60045496	60045496	+	Missense_Mutation	SNP	C	C	A			TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chr17:60045496C>A	ENST00000397786.2	-	18	4167	c.4091G>T	c.(4090-4092)gGa>gTa	p.G1364V		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1364					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.G1364V(1)		breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TCTTTGAGATCCATAGGGTTC	0.383																																					p.G1364V		Atlas-SNP	.											MED13,NS,carcinoma,0,2	MED13	181	.	1	Substitution - Missense(1)	breast(1)	c.G4091T						.						140.0	125.0	130.0					17																	60045496		1835	4096	5931	SO:0001583	missense	9969	exon18			TGAGATCCATAGG	AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.4091G>T	chr17.hg19:g.60045496C>A	ENSP00000380888:p.Gly1364Val	265.0	2.0		512.0	62.0	NM_005121	B2RU05|O60334	Missense_Mutation	SNP	ENST00000397786.2	hg19	CCDS42366.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.663911	0.88251	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	T	0.73258	-0.73	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.83285	0.5221	M	0.66939	2.045	0.80722	D	1	D	0.76494	0.999	D	0.68765	0.96	D	0.84332	0.0522	10	0.72032	D	0.01	-19.4547	19.5574	0.95357	0.0:1.0:0.0:0.0	.	1364	Q9UHV7	MED13_HUMAN	V	1364;1363	ENSP00000380888:G1364V	ENSP00000262436:G1363V	G	-	2	0	MED13	57400278	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.623000	0.88846	0.655000	0.94253	GGA	.	.		0.383	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121	
RNF157	114804	hgsc.bcm.edu	37	17	74151751	74151751	+	Silent	SNP	G	G	A			TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chr17:74151751G>A	ENST00000269391.6	-	15	1722	c.1590C>T	c.(1588-1590)gaC>gaT	p.D530D	RNF157-AS1_ENST00000590137.1_RNA|RNF157_ENST00000319945.6_Silent_p.D530D|RNF157-AS1_ENST00000586661.1_RNA|RNF157-AS1_ENST00000586627.1_RNA|RNF157-AS1_ENST00000592748.1_RNA|RNF157-AS1_ENST00000585542.1_RNA	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	ring finger protein 157	530	Ser-rich.						zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			AGGAGACGGTGTCAGTGCTGA	0.632																																					p.D530D	GBM(186;507 2120 27388 27773 52994)	Atlas-SNP	.											.	RNF157	66	.	0			c.C1590T						.						48.0	36.0	40.0					17																	74151751		2203	4300	6503	SO:0001819	synonymous_variant	114804	exon15			GACGGTGTCAGTG	AK091467	CCDS32740.1	17q25.3	2004-02-27			ENSG00000141576	ENSG00000141576		"""RING-type (C3HC4) zinc fingers"""	29402	protein-coding gene	gene with protein product						11572484	Standard	NM_052916		Approved	KIAA1917	uc002jqz.3	Q96PX1	OTTHUMG00000132627	ENST00000269391.6:c.1590C>T	chr17.hg19:g.74151751G>A		108.0	0.0		220.0	69.0	NM_052916	Q8NB72|Q96N56	Silent	SNP	ENST00000269391.6	hg19	CCDS32740.1																																																																																			.	.		0.632	RNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255874.2	XM_290732	
ZNF521	25925	hgsc.bcm.edu	37	18	22775123	22775123	+	Splice_Site	SNP	C	C	A			TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chr18:22775123C>A	ENST00000361524.3	-	5	3807		c.e5+1		ZNF521_ENST00000584787.1_Splice_Site|ZNF521_ENST00000538137.2_Splice_Site	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521						cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GTGTCACTCACCAATCATGTG	0.338			T	PAX5	ALL																																.		Atlas-SNP	.		Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	.	ZNF521	269	.	0			c.3658+1G>T						.						158.0	136.0	144.0					18																	22775123		2203	4300	6503	SO:0001630	splice_region_variant	25925	exon6			CACTCACCAATCA	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.3658+1G>T	chr18.hg19:g.22775123C>A		27.0	0.0		47.0	7.0	NM_015461	A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Splice_Site	SNP	ENST00000361524.3	hg19	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.095668	0.76870	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8984	0.96975	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZNF521	21029121	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.421000	0.80204	2.780000	0.95670	0.585000	0.79938	.	.	.		0.338	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461	Intron
MYO5B	4645	hgsc.bcm.edu	37	18	47566657	47566657	+	Missense_Mutation	SNP	G	G	A			TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chr18:47566657G>A	ENST00000285039.7	-	3	465	c.166C>T	c.(166-168)Cgc>Tgc	p.R56C		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	56					endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		AGCTGGTTGCGTTGTACATCA	0.423																																					p.R56C		Atlas-SNP	.											.	MYO5B	178	.	0			c.C166T						.						285.0	276.0	279.0					18																	47566657		1969	4164	6133	SO:0001583	missense	4645	exon3			GGTTGCGTTGTAC	AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"""Myosins / Myosin superfamily : Class V"""	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.166C>T	chr18.hg19:g.47566657G>A	ENSP00000285039:p.Arg56Cys	188.0	0.0		137.0	34.0	NM_001080467	B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	SNP	ENST00000285039.7	hg19	CCDS42436.1	.	.	.	.	.	.	.	.	.	.	g	11.47	1.648194	0.29336	.	.	ENSG00000167306	ENST00000285039;ENST00000356732	D	0.95342	-3.68	5.95	0.703	0.18116	.	0.983709	0.08333	N	0.962025	D	0.87414	0.6171	N	0.11560	0.145	0.09310	N	1	P;B	0.45715	0.865;0.002	P;B	0.46339	0.513;0.0	T	0.80261	-0.1456	10	0.54805	T	0.06	.	1.3274	0.02128	0.2283:0.1346:0.1268:0.5103	.	55;56	Q7Z7A5;Q9ULV0	.;MYO5B_HUMAN	C	56;55	ENSP00000285039:R56C	ENSP00000285039:R56C	R	-	1	0	MYO5B	45820655	0.000000	0.05858	0.046000	0.18839	0.074000	0.17049	-0.017000	0.12590	0.165000	0.19558	-1.480000	0.00990	CGC	.	.		0.423	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2		
MKNK2	2872	hgsc.bcm.edu	37	19	2042789	2042789	+	Missense_Mutation	SNP	C	C	T			TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chr19:2042789C>T	ENST00000591601.1	-	7	609	c.574G>A	c.(574-576)Gcc>Acc	p.A192T	MKNK2_ENST00000591588.1_5'Flank|MKNK2_ENST00000541165.1_Missense_Mutation_p.A61T|MKNK2_ENST00000309340.7_Missense_Mutation_p.A192T|MKNK2_ENST00000588014.1_5'Flank|MKNK2_ENST00000591142.1_5'Flank|MKNK2_ENST00000250896.3_Missense_Mutation_p.A192T			Q9HBH9	MKNK2_HUMAN	MAP kinase interacting serine/threonine kinase 2	192	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell surface receptor signaling pathway (GO:0007166)|cellular response to arsenic-containing substance (GO:0071243)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|hemopoiesis (GO:0030097)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|kidney(3)|large_intestine(3)|lung(3)	10		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGTCCAAGGCGCTGGCCACG	0.657																																					p.A192T		Atlas-SNP	.											.	MKNK2	56	.	0			c.G574A						.						35.0	33.0	34.0					19																	2042789		2202	4295	6497	SO:0001583	missense	2872	exon8			CCAAGGCGCTGGC	AF125532	CCDS12079.1, CCDS12080.1	19p13.3	2012-12-20			ENSG00000099875	ENSG00000099875			7111	protein-coding gene	gene with protein product	"""Putative map kinase interacting kinase"""	605069	"""G protein-coupled receptor kinase 7"""	GPRK7		11013076	Standard	NM_199054		Approved	MNK2	uc002lus.2	Q9HBH9	OTTHUMG00000180020	ENST00000591601.1:c.574G>A	chr19.hg19:g.2042789C>T	ENSP00000467811:p.Ala192Thr	44.0	0.0		41.0	20.0	NM_017572	Q6GPI3|Q9HBH8|Q9UHR0|Q9Y2N6	Missense_Mutation	SNP	ENST00000591601.1	hg19	CCDS12080.1	.	.	.	.	.	.	.	.	.	.	C	34	5.368462	0.95900	.	.	ENSG00000099875	ENST00000309340;ENST00000250896;ENST00000541165;ENST00000545627	T;T;T	0.57752	0.38;0.38;0.38	3.87	3.87	0.44632	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.115166	0.64402	D	0.000019	T	0.68366	0.2993	M	0.68317	2.08	0.80722	D	1	D;D	0.89917	1.0;0.995	D;P	0.72338	0.977;0.79	T	0.69647	-0.5089	10	0.41790	T	0.15	-9.9485	14.5788	0.68271	0.0:1.0:0.0:0.0	.	192;192	Q9HBH9;Q9HBH9-2	MKNK2_HUMAN;.	T	192;192;61;132	ENSP00000309485:A192T;ENSP00000250896:A192T;ENSP00000438904:A61T	ENSP00000250896:A192T	A	-	1	0	MKNK2	1993789	1.000000	0.71417	0.994000	0.49952	0.722000	0.41435	7.465000	0.80898	2.007000	0.58848	0.556000	0.70494	GCC	.	.		0.657	MKNK2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449312.1	NM_199054	
NR2F6	2063	hgsc.bcm.edu	37	19	17351535	17351535	+	Missense_Mutation	SNP	G	G	C	rs2288539	byFrequency	TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chr19:17351535G>C	ENST00000291442.3	-	2	1037	c.318C>G	c.(316-318)aaC>aaG	p.N106K	AC010646.3_ENST00000594059.1_5'UTR	NM_005234.3	NP_005225.2	P10588	NR2F6_HUMAN	nuclear receptor subfamily 2, group F, member 6	106					detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|entrainment of circadian clock by photoperiod (GO:0043153)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron development (GO:0048666)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	5						ACTGGCACTGGTTCCGGTGGT	0.637																																					p.N106K		Atlas-SNP	.											.	NR2F6	18	.	0			c.C318G						.						169.0	125.0	140.0					19																	17351535		2203	4300	6503	SO:0001583	missense	2063	exon2			GCACTGGTTCCGG	X12794	CCDS12352.1	19p13.11	2013-09-20			ENSG00000160113	ENSG00000160113		"""Nuclear hormone receptors"""	7977	protein-coding gene	gene with protein product		132880		ERBAL2		2905047	Standard	NM_005234		Approved	EAR-2	uc002nfq.3	P10588	OTTHUMG00000182728	ENST00000291442.3:c.318C>G	chr19.hg19:g.17351535G>C	ENSP00000291442:p.Asn106Lys	96.0	0.0		86.0	22.0	NM_005234	B2RC68|Q5XGA0|Q6P586|Q9BUE8	Missense_Mutation	SNP	ENST00000291442.3	hg19	CCDS12352.1	.	.	.	.	.	.	.	.	.	.	G	19.44	3.828499	0.71258	.	.	ENSG00000160113	ENST00000291442;ENST00000536940	D	0.97161	-4.27	4.29	0.971	0.19698	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (4);	0.000000	0.85682	D	0.000000	D	0.97207	0.9087	M	0.63428	1.95	0.09310	P	0.99999999512266	D	0.76494	0.999	D	0.87578	0.998	D	0.96814	0.9599	9	0.87932	D	0	.	7.5691	0.27896	0.2956:0.0:0.7044:0.0	.	106	P10588	NR2F6_HUMAN	K	106;79	ENSP00000291442:N106K	ENSP00000291442:N106K	N	-	3	2	NR2F6	17212535	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.688000	0.46984	0.811000	0.34303	0.313000	0.20887	AAC	.	G|0.826;A|0.174		0.637	NR2F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463325.1		
DDX49	54555	hgsc.bcm.edu	37	19	19032527	19032527	+	Missense_Mutation	SNP	C	C	A			TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chr19:19032527C>A	ENST00000247003.4	+	3	362	c.295C>A	c.(295-297)Ctg>Atg	p.L99M	DDX49_ENST00000438170.2_5'UTR|COPE_ENST00000349893.4_5'Flank|COPE_ENST00000351079.4_5'Flank|AC002985.3_ENST00000596918.1_Intron|COPE_ENST00000262812.4_5'Flank|COPE_ENST00000600932.1_5'Flank	NM_019070.4	NP_061943.2	Q9Y6V7	DDX49_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 49	99	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.						ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	18			Epithelial(12;0.0289)			GCCTCTAGGGCTGAAAGACTG	0.647																																					p.L99M		Atlas-SNP	.											.	DDX49	37	.	0			c.C295A						.						115.0	100.0	105.0					19																	19032527		2203	4300	6503	SO:0001583	missense	54555	exon3			CTAGGGCTGAAAG		CCDS12390.1	19p12	2008-02-05				ENSG00000105671		"""DEAD-boxes"""	18684	protein-coding gene	gene with protein product							Standard	NM_019070		Approved	FLJ10432	uc002nkq.2	Q9Y6V7		ENST00000247003.4:c.295C>A	chr19.hg19:g.19032527C>A	ENSP00000247003:p.Leu99Met	122.0	0.0		86.0	23.0	NM_019070	E7ENA0|Q53FJ1|Q9BVQ8	Missense_Mutation	SNP	ENST00000247003.4	hg19	CCDS12390.1	.	.	.	.	.	.	.	.	.	.	C	17.41	3.381942	0.61845	.	.	ENSG00000105671	ENST00000247003	T	0.20598	2.06	5.44	1.79	0.24919	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.37046	0.0989	M	0.63169	1.94	0.80722	D	1	D	0.63046	0.992	D	0.70227	0.968	T	0.04621	-1.0938	10	0.66056	D	0.02	-18.9413	7.9155	0.29816	0.0:0.6253:0.0:0.3747	.	99	Q9Y6V7	DDX49_HUMAN	M	99	ENSP00000247003:L99M	ENSP00000247003:L99M	L	+	1	2	DDX49	18893527	0.537000	0.26386	0.560000	0.28344	0.954000	0.61252	0.980000	0.29513	0.156000	0.19299	0.561000	0.74099	CTG	.	.		0.647	DDX49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464593.1	NM_019070	
CIC	23152	hgsc.bcm.edu	37	19	42797243	42797243	+	Missense_Mutation	SNP	C	C	T			TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chr19:42797243C>T	ENST00000575354.2	+	15	3645	c.3605C>T	c.(3604-3606)cCt>cTt	p.P1202L	CIC_ENST00000160740.3_Missense_Mutation_p.P1200L|CIC_ENST00000572681.2_Missense_Mutation_p.P2109L	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1202	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CGGCCTGGCCCTGCACCCCGG	0.706			"""Mis, F, S"""		oligodendroglioma																																p.P1202L		Atlas-SNP	.		Rec	yes		19	19q13.2	23152	capicua homolog		O	.	CIC	249	.	0			c.C3605T						.						10.0	12.0	11.0					19																	42797243		2168	4246	6414	SO:0001583	missense	23152	exon15			CTGGCCCTGCACC	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.3605C>T	chr19.hg19:g.42797243C>T	ENSP00000458663:p.Pro1202Leu	139.0	0.0		107.0	35.0	NM_015125	Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	hg19	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	C	11.85	1.760871	0.31137	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.54	4.54	0.55810	.	.	.	.	.	T	0.33000	0.0848	N	0.14661	0.345	0.36733	D	0.881839	P	0.36065	0.535	B	0.27887	0.084	T	0.50242	-0.8851	8	0.87932	D	0	-0.8271	12.9884	0.58604	0.0:1.0:0.0:0.0	.	1202	Q96RK0	CIC_HUMAN	L	1202	.	ENSP00000160740:P1202L	P	+	2	0	CIC	47489083	0.888000	0.30383	0.984000	0.44739	0.947000	0.59692	3.090000	0.50191	2.537000	0.85549	0.491000	0.48974	CCT	.	.		0.706	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2		
SIGLEC8	27181	hgsc.bcm.edu	37	19	51960468	51960468	+	Missense_Mutation	SNP	T	T	C			TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chr19:51960468T>C	ENST00000321424.3	-	3	817	c.751A>G	c.(751-753)Acc>Gcc	p.T251A	SIGLEC8_ENST00000430817.1_Intron|SIGLEC8_ENST00000597352.1_5'UTR|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.T158A	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	251	Ig-like C2-type 2.				cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		ACAGTCATGGTCAAGTTCCAA	0.572																																					p.T251A		Atlas-SNP	.											.	SIGLEC8	130	.	0			c.A751G						.						100.0	95.0	96.0					19																	51960468		2203	4300	6503	SO:0001583	missense	27181	exon3			TCATGGTCAAGTT	AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.751A>G	chr19.hg19:g.51960468T>C	ENSP00000321077:p.Thr251Ala	61.0	0.0		46.0	10.0	NM_014442	Q7Z728	Missense_Mutation	SNP	ENST00000321424.3	hg19	CCDS33086.1	.	.	.	.	.	.	.	.	.	.	.	8.990	0.977436	0.18812	.	.	ENSG00000105366	ENST00000321424;ENST00000340550	T;T	0.64438	-0.1;1.1	2.14	-0.0501	0.13832	Immunoglobulin-like (1);	0.224693	0.23139	U	0.051485	T	0.56746	0.2006	L	0.60012	1.86	0.09310	N	1	B;B	0.31548	0.328;0.22	B;B	0.43251	0.413;0.109	T	0.48198	-0.9056	10	0.21540	T	0.41	.	4.4212	0.11481	0.0:0.3497:0.0:0.6503	.	158;251	Q9NYZ4-2;Q9NYZ4	.;SIGL8_HUMAN	A	251;158	ENSP00000321077:T251A;ENSP00000339448:T158A	ENSP00000321077:T251A	T	-	1	0	SIGLEC8	56652280	0.000000	0.05858	0.001000	0.08648	0.143000	0.21401	-0.019000	0.12546	-0.091000	0.12440	0.416000	0.27883	ACC	.	.		0.572	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463648.2	NM_014442	
DNAAF3	352909	hgsc.bcm.edu	37	19	55670499	55670499	+	Missense_Mutation	SNP	C	C	A			TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chr19:55670499C>A	ENST00000524407.2	-	12	1590	c.1557G>T	c.(1555-1557)gaG>gaT	p.E519D	CTD-2587H24.4_ENST00000587871.1_Intron|CTD-2587H24.5_ENST00000591665.1_RNA|DNAAF3_ENST00000455045.1_Missense_Mutation_p.E465D|TNNI3_ENST00000588882.1_5'Flank|TNNI3_ENST00000344887.5_5'Flank|DNAAF3_ENST00000527223.2_Missense_Mutation_p.E586D|DNAAF3_ENST00000587789.2_5'UTR|DNAAF3_ENST00000391720.4_Missense_Mutation_p.E566D|TNNI3_ENST00000590463.1_5'Flank			Q8N9W5	DAAF3_HUMAN	dynein, axonemal, assembly factor 3	519					axonemal dynein complex assembly (GO:0070286)|motile cilium assembly (GO:0044458)	cytoplasm (GO:0005737)											GAGCCAGAACCTCTGAGAGTG	0.617																																					p.E586D		Atlas-SNP	.											.	.	.	.	0			c.G1758T						.						25.0	27.0	27.0					19																	55670499		1857	4113	5970	SO:0001583	missense	352909	exon12			CAGAACCTCTGAG	AK097388	CCDS12918.2, CCDS58679.1, CCDS58680.1, CCDS59422.1	19q13.42	2012-10-05	2012-03-09	2012-03-09	ENSG00000167646	ENSG00000167646			30492	protein-coding gene	gene with protein product		614566	"""chromosome 19 open reading frame 51"", ""ciliary dyskinesia, primary 2"""	C19orf51, CILD2		22387996	Standard	NM_001256714		Approved	FLJ40069, FLJ36139, PF22, PCD	uc002qjl.2	Q8N9W5	OTTHUMG00000128547	ENST00000524407.2:c.1557G>T	chr19.hg19:g.55670499C>A	ENSP00000432046:p.Glu519Asp	129.0	0.0		93.0	28.0	NM_001256714	A8MUY0|E3W9A1|E9PAX5|Q6P4F6|Q8N9W0|Q96AR2	Missense_Mutation	SNP	ENST00000524407.2	hg19	CCDS59422.1	.	.	.	.	.	.	.	.	.	.	c	12.04	1.817953	0.32145	.	.	ENSG00000167646	ENST00000301249;ENST00000455045;ENST00000391720	T;T	0.19669	2.15;2.13	3.77	-0.241	0.13043	.	0.416306	0.17608	N	0.168190	T	0.12092	0.0294	L	0.29908	0.895	0.09310	N	1	B;B;B;B	0.24963	0.115;0.009;0.015;0.005	B;B;B;B	0.20767	0.031;0.007;0.014;0.014	T	0.18967	-1.0320	10	0.37606	T	0.19	-6.6568	6.2192	0.20671	0.0:0.6633:0.1735:0.1632	.	586;465;539;519	E9PAX5;E3W9A1;Q8N9W5-3;Q8N9W5	.;.;.;CS051_HUMAN	D	586;465;566	ENSP00000394343:E465D;ENSP00000375600:E566D	ENSP00000301249:E586D	E	-	3	2	C19orf51	60362311	0.000000	0.05858	0.001000	0.08648	0.039000	0.13416	-0.603000	0.05674	0.030000	0.15379	0.556000	0.70494	GAG	.	.		0.617	DNAAF3-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250388.5	NM_178837	
PEG3	5178	hgsc.bcm.edu	37	19	57328390	57328390	+	Missense_Mutation	SNP	G	G	T			TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chr19:57328390G>T	ENST00000326441.9	-	10	1783	c.1420C>A	c.(1420-1422)Cat>Aat	p.H474N	ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.H474N|PEG3_ENST00000598410.1_Missense_Mutation_p.H350N|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.H348N	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	474					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TCTCTAGTATGCATGATCTGG	0.448																																					p.H474N		Atlas-SNP	.											.	PEG3	414	.	0			c.C1420A						.						197.0	171.0	180.0					19																	57328390		2203	4300	6503	SO:0001583	missense	5178	exon9			TAGTATGCATGAT	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.1420C>A	chr19.hg19:g.57328390G>T	ENSP00000326581:p.His474Asn	151.0	0.0		145.0	7.0	NM_001146184	A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	hg19	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.359120	0.82353	.	.	ENSG00000198300	ENST00000326441;ENST00000423103;ENST00000292074	T;T	0.47177	0.85;0.85	4.55	4.55	0.56014	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.46442	D	0.000290	T	0.78710	0.4326	H	0.97103	3.94	.	.	.	D;D;D	0.89917	1.0;0.997;0.999	D;D;D	0.91635	0.999;0.994;0.998	D	0.87098	0.2177	9	0.87932	D	0	-34.4387	15.1826	0.72972	0.0:0.0:1.0:0.0	.	350;474;409	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	N	474;474;444	ENSP00000326581:H474N;ENSP00000403051:H474N	ENSP00000292074:H444N	H	-	1	0	ZIM2	62020202	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	6.451000	0.73481	2.515000	0.84797	0.650000	0.86243	CAT	.	.		0.448	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2		
PSMF1	9491	hgsc.bcm.edu	37	20	1115886	1115886	+	Missense_Mutation	SNP	C	C	G			TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chr20:1115886C>G	ENST00000335877.6	+	4	664	c.488C>G	c.(487-489)gCc>gGc	p.A163G	PSMF1_ENST00000381898.4_Missense_Mutation_p.A75G|PSMF1_ENST00000438768.2_Intron|PSMF1_ENST00000484891.1_3'UTR|PSMF1_ENST00000246015.4_Missense_Mutation_p.A163G|PSMF1_ENST00000333082.3_Missense_Mutation_p.A163G	NM_006814.3	NP_006805.2	Q92530	PSMF1_HUMAN	proteasome (prosome, macropain) inhibitor subunit 1 (PI31)	163	Pro-rich.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteasomal protein catabolic process (GO:1901799)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome core complex (GO:0005839)	endopeptidase inhibitor activity (GO:0004866)|proteasome binding (GO:0070628)			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)	13						CCTGCTACCGCCAGAGAGGTG	0.582																																					p.A163G		Atlas-SNP	.											.	PSMF1	27	.	0			c.C488G						.						81.0	73.0	76.0					20																	1115886		2203	4300	6503	SO:0001583	missense	9491	exon4			CTACCGCCAGAGA	D88378	CCDS13010.1	20p13	2008-07-02			ENSG00000125818	ENSG00000125818		"""Proteasome (prosome, macropain) subunits"""	9571	protein-coding gene	gene with protein product	"""proteasome inhibitor hP131 subunit"""					10363639	Standard	NM_006814		Approved	PI31	uc002wen.4	Q92530	OTTHUMG00000031656	ENST00000335877.6:c.488C>G	chr20.hg19:g.1115886C>G	ENSP00000338039:p.Ala163Gly	91.0	0.0		129.0	34.0	NM_006814	A0AVQ9|D3DVW3|Q9H4I1	Missense_Mutation	SNP	ENST00000335877.6	hg19	CCDS13010.1	.	.	.	.	.	.	.	.	.	.	C	13.51	2.259794	0.39995	.	.	ENSG00000125818	ENST00000333082;ENST00000381898;ENST00000381899;ENST00000454500;ENST00000246015;ENST00000335877	T;T;T;T;T	0.44482	1.52;0.92;1.51;1.5;1.52	5.22	5.22	0.72569	.	0.356740	0.25256	N	0.031999	T	0.32675	0.0837	L	0.36672	1.1	0.30949	N	0.724997	P;P;B;B	0.42296	0.775;0.626;0.006;0.003	B;B;B;B	0.37550	0.225;0.253;0.007;0.002	T	0.26395	-1.0104	10	0.20519	T	0.43	-18.4618	15.8118	0.78571	0.0:1.0:0.0:0.0	.	75;75;163;163	F5H4Z3;B4DUJ0;Q5QPM7;Q92530	.;.;.;PSMF1_HUMAN	G	163;75;163;75;163;163	ENSP00000327704:A163G;ENSP00000371323:A75G;ENSP00000371324:A163G;ENSP00000246015:A163G;ENSP00000338039:A163G	ENSP00000246015:A163G	A	+	2	0	PSMF1	1063886	0.998000	0.40836	1.000000	0.80357	0.636000	0.38137	2.709000	0.47160	2.712000	0.92718	0.650000	0.86243	GCC	.	.		0.582	PSMF1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077504.2	NM_178578	
TGM3	7053	hgsc.bcm.edu	37	20	2291690	2291690	+	Missense_Mutation	SNP	G	G	C			TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chr20:2291690G>C	ENST00000381458.5	+	4	518	c.455G>C	c.(454-456)aGa>aCa	p.R152T		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	152					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)	CACGCTGAGAGAGAAGAGTAT	0.468																																					p.R152T		Atlas-SNP	.											.	TGM3	105	.	0			c.G455C						.						159.0	150.0	153.0					20																	2291690		2203	4300	6503	SO:0001583	missense	7053	exon4			CTGAGAGAGAAGA	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.455G>C	chr20.hg19:g.2291690G>C	ENSP00000370867:p.Arg152Thr	128.0	0.0		138.0	65.0	NM_003245	A8K5N6|B2RCR6|D3DVX1|O95933|Q32ML9|Q32MM0	Missense_Mutation	SNP	ENST00000381458.5	hg19	CCDS33435.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.146920	0.77888	.	.	ENSG00000125780	ENST00000381458;ENST00000420960	D	0.91945	-2.94	5.58	5.58	0.84498	.	0.063428	0.85682	D	0.000000	D	0.97114	0.9057	H	0.94345	3.525	0.46542	D	0.999099	D	0.89917	1.0	D	0.70935	0.971	D	0.97470	1.0040	10	0.52906	T	0.07	.	17.0667	0.86561	0.0:0.0:1.0:0.0	.	152	Q08188	TGM3_HUMAN	T	152	ENSP00000370867:R152T	ENSP00000370867:R152T	R	+	2	0	TGM3	2239690	0.999000	0.42202	1.000000	0.80357	0.863000	0.49368	3.208000	0.51114	2.636000	0.89361	0.455000	0.32223	AGA	.	.		0.468	TGM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077579.2	NM_003245	
VPS16	64601	hgsc.bcm.edu	37	20	2843248	2843248	+	Missense_Mutation	SNP	G	G	C			TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chr20:2843248G>C	ENST00000380445.3	+	12	1167	c.1095G>C	c.(1093-1095)gaG>gaC	p.E365D	VPS16_ENST00000481812.2_Splice_Site|VPS16_ENST00000380443.3_Missense_Mutation_p.E19D|VPS16_ENST00000380469.3_Intron|PTPRA_ENST00000380393.3_5'Flank	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	365					intracellular protein transport (GO:0006886)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|axon (GO:0030424)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|recycling endosome (GO:0055037)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						AGGCGGACGAGTACCTGCGGG	0.602																																					p.E365D		Atlas-SNP	.											.	VPS16	76	.	0			c.G1095C						.						45.0	49.0	48.0					20																	2843248		2203	4299	6502	SO:0001583	missense	64601	exon12			GGACGAGTACCTG	AF308801	CCDS13036.1, CCDS13037.1	20p13	2009-07-07	2009-07-07	2009-07-07	ENSG00000215305	ENSG00000215305			14584	protein-coding gene	gene with protein product		608550					Standard	NM_022575		Approved		uc002whe.3	Q9H269	OTTHUMG00000031714	ENST00000380445.3:c.1095G>C	chr20.hg19:g.2843248G>C	ENSP00000369810:p.Glu365Asp	52.0	0.0		48.0	25.0	NM_022575	Q5JUB1|Q8WU31|Q96EE7|Q96N92|Q9H1Q4|Q9H1Q5	Missense_Mutation	SNP	ENST00000380445.3	hg19	CCDS13036.1	.	.	.	.	.	.	.	.	.	.	G	13.96	2.392904	0.42410	.	.	ENSG00000215305	ENST00000380445;ENST00000380443	T;T	0.54675	0.67;0.56	5.08	0.868	0.19090	Vps16, N-terminal (1);	0.049806	0.85682	D	0.000000	T	0.36635	0.0974	L	0.41079	1.255	0.47584	D	0.999466	P;P	0.43633	0.813;0.604	B;B	0.38954	0.286;0.286	T	0.09271	-1.0682	10	0.59425	D	0.04	-27.4704	4.9337	0.13930	0.3324:0.1442:0.5234:0.0	.	19;365	Q5JUA8;Q9H269	.;VPS16_HUMAN	D	365;19	ENSP00000369810:E365D;ENSP00000369808:E19D	ENSP00000369808:E19D	E	+	3	2	VPS16	2791248	1.000000	0.71417	0.997000	0.53966	0.974000	0.67602	2.949000	0.49074	0.040000	0.15660	0.561000	0.74099	GAG	.	.		0.602	VPS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077658.2	NM_022575	
PAK7	57144	hgsc.bcm.edu	37	20	9560805	9560805	+	Missense_Mutation	SNP	A	A	G			TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chr20:9560805A>G	ENST00000378429.3	-	5	1523	c.977T>C	c.(976-978)aTg>aCg	p.M326T	RP5-986I17.2_ENST00000428769.1_RNA|PAK7_ENST00000353224.5_Missense_Mutation_p.M326T|PAK7_ENST00000378423.1_Missense_Mutation_p.M326T	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	326	Linker.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			TGGAATGCACATTGTGGGCTC	0.502																																					p.M326T		Atlas-SNP	.											.	PAK7	194	.	0			c.T977C						.						292.0	238.0	256.0					20																	9560805		2203	4300	6503	SO:0001583	missense	57144	exon4			ATGCACATTGTGG	AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"""p21(CDKN1A)-activated kinase 7"""			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.977T>C	chr20.hg19:g.9560805A>G	ENSP00000367686:p.Met326Thr	91.0	0.0		105.0	23.0	NM_177990	A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Missense_Mutation	SNP	ENST00000378429.3	hg19	CCDS13107.1	.	.	.	.	.	.	.	.	.	.	A	2.265	-0.368338	0.05069	.	.	ENSG00000101349	ENST00000378429;ENST00000353224;ENST00000378423;ENST00000439520	T;T;T	0.71579	-0.58;-0.58;-0.58	5.93	4.89	0.63831	.	0.511356	0.25294	N	0.031711	T	0.45994	0.1370	N	0.14661	0.345	0.30989	N	0.721627	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.35968	-0.9767	9	.	.	.	.	2.1372	0.03765	0.3851:0.3355:0.2794:0.0	.	326;326	B0AZM9;Q9P286	.;PAK7_HUMAN	T	326;326;326;274	ENSP00000367686:M326T;ENSP00000322957:M326T;ENSP00000367679:M326T	.	M	-	2	0	PAK7	9508805	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	3.770000	0.55310	1.099000	0.41499	0.533000	0.62120	ATG	.	.		0.502	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1		
PABPC1L	80336	hgsc.bcm.edu	37	20	43550238	43550238	+	Missense_Mutation	SNP	G	G	T			TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chr20:43550238G>T	ENST00000217073.2	+	6	742	c.742G>T	c.(742-744)Gtg>Ttg	p.V248L	PABPC1L_ENST00000217074.4_Missense_Mutation_p.V248L|PABPC1L_ENST00000537323.1_Missense_Mutation_p.V248L|PABPC1L_ENST00000255136.3_Missense_Mutation_p.V248L			Q4VXU2	PAP1L_HUMAN	poly(A) binding protein, cytoplasmic 1-like	248	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA polyadenylation (GO:0006378)|oocyte maturation (GO:0001556)	extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						TCCCCAGGCCGTGGTCCATAT	0.617																																					p.V248L		Atlas-SNP	.											.	PABPC1L	59	.	0			c.G742T						.						102.0	101.0	102.0					20																	43550238		1568	3582	5150	SO:0001583	missense	80336	exon6			CAGGCCGTGGTCC	AK026760	CCDS42878.1	20q12-q13.1	2013-02-12	2007-11-21	2007-11-21	ENSG00000101104	ENSG00000101104		"""RNA binding motif (RRM) containing"""	15797	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 119"""	C20orf119		11549316	Standard	NM_001124756		Approved	dJ1069P2.3, PABPC1L1, ePAB	uc010ggv.1	Q4VXU2	OTTHUMG00000032553	ENST00000217073.2:c.742G>T	chr20.hg19:g.43550238G>T	ENSP00000217073:p.Val248Leu	94.0	0.0		84.0	40.0	NM_001124756	Q4VY17	Missense_Mutation	SNP	ENST00000217073.2	hg19	CCDS42878.1	.	.	.	.	.	.	.	.	.	.	G	18.61	3.660662	0.67586	.	.	ENSG00000101104	ENST00000217074;ENST00000255136;ENST00000537323;ENST00000217073	D;D;D;D	0.93712	-3.27;-3.27;-3.27;-3.27	5.17	5.17	0.71159	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.116899	0.64402	D	0.000018	D	0.93311	0.7868	N	0.17379	0.485	0.80722	D	1	D	0.60575	0.988	D	0.64687	0.928	D	0.94877	0.8035	10	0.87932	D	0	.	18.2846	0.90110	0.0:0.0:1.0:0.0	.	248	Q4VXU2	PAP1L_HUMAN	L	248	ENSP00000217074:V248L;ENSP00000255136:V248L;ENSP00000445661:V248L;ENSP00000217073:V248L	ENSP00000217073:V248L	V	+	1	0	PABPC1L	42983652	1.000000	0.71417	0.766000	0.31476	0.021000	0.10359	9.835000	0.99442	2.421000	0.82119	0.563000	0.77884	GTG	.	.		0.617	PABPC1L-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127816.2		
HRH3	11255	hgsc.bcm.edu	37	20	60791440	60791440	+	Silent	SNP	G	G	A			TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chr20:60791440G>A	ENST00000340177.5	-	3	1244	c.960C>T	c.(958-960)ctC>ctT	p.L320L	HRH3_ENST00000317393.6_Silent_p.L320L	NM_007232.2	NP_009163.2	Q9Y5N1	HRH3_HUMAN	histamine receptor H3	320					brain development (GO:0007420)|drinking behavior (GO:0042756)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|learning (GO:0007612)|memory (GO:0007613)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of gamma-aminobutyric acid secretion (GO:0014053)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of serotonin secretion (GO:0014063)|neurotransmitter secretion (GO:0007269)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of norepinephrine secretion (GO:0014061)|response to organic cyclic compound (GO:0014070)	integral component of plasma membrane (GO:0005887)|myelin sheath (GO:0043209)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|histamine receptor activity (GO:0004969)			breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		Betahistine(DB06698)|Histamine Phosphate(DB00667)|Mirtazapine(DB00370)	AGCCCCTCTTGAGTGAGCGCG	0.697																																					p.L320L		Atlas-SNP	.											.	HRH3	25	.	0			c.C960T						.						8.0	8.0	8.0					20																	60791440		2174	4262	6436	SO:0001819	synonymous_variant	11255	exon3			CCTCTTGAGTGAG	AF140538	CCDS13493.1	20q13.33	2013-09-19			ENSG00000101180	ENSG00000101180		"""GPCR / Class A : Histamine receptors"""	5184	protein-coding gene	gene with protein product		604525				10347254	Standard	NM_007232		Approved	GPCR97	uc002ycf.2	Q9Y5N1	OTTHUMG00000032899	ENST00000340177.5:c.960C>T	chr20.hg19:g.60791440G>A		79.0	0.0		94.0	38.0	NM_007232	Q4QRI7|Q9GZX2|Q9H4K8	Silent	SNP	ENST00000340177.5	hg19	CCDS13493.1																																																																																			.	.		0.697	HRH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079994.1	NM_007232	
USP16	10600	hgsc.bcm.edu	37	21	30409652	30409652	+	Silent	SNP	T	T	C			TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chr21:30409652T>C	ENST00000334352.4	+	7	735	c.504T>C	c.(502-504)agT>agC	p.S168S	USP16_ENST00000535828.1_Intron|USP16_ENST00000399975.3_Silent_p.S167S|USP16_ENST00000399976.2_Silent_p.S168S	NM_001032410.1	NP_001027582.1			ubiquitin specific peptidase 16											breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						AAAAAGAGAGTAAGAATGAAC	0.308																																					p.S168S	Melanoma(92;625 1444 27493 34101 44971)	Atlas-SNP	.											.	USP16	65	.	0			c.T504C						.						75.0	82.0	80.0					21																	30409652		2203	4300	6503	SO:0001819	synonymous_variant	10600	exon6			AGAGAGTAAGAAT	AF126736	CCDS13583.1, CCDS42912.1	21q21	2008-04-11	2005-08-08		ENSG00000156256	ENSG00000156256		"""Ubiquitin-specific peptidases"""	12614	protein-coding gene	gene with protein product		604735	"""ubiquitin specific protease 16"""			12838346	Standard	NM_006447		Approved	Ubp-M	uc002ymy.3	Q9Y5T5	OTTHUMG00000078802	ENST00000334352.4:c.504T>C	chr21.hg19:g.30409652T>C		158.0	0.0		214.0	41.0	NM_006447		Silent	SNP	ENST00000334352.4	hg19	CCDS13583.1																																																																																			.	.		0.308	USP16-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171847.1		
MGAT3	4248	hgsc.bcm.edu	37	22	39884130	39884130	+	Missense_Mutation	SNP	G	G	A	rs201303175		TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chr22:39884130G>A	ENST00000341184.6	+	2	993	c.778G>A	c.(778-780)Ggc>Agc	p.G260S		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	260					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0003830)			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					GCTGACCAATGGCACCTTCGA	0.647																																					p.G260S		Atlas-SNP	.											.	MGAT3	65	.	0			c.G778A						.						54.0	49.0	51.0					22																	39884130		2203	4300	6503	SO:0001583	missense	4248	exon2			ACCAATGGCACCT	D13789	CCDS13994.2	22q13.1	2013-02-25			ENSG00000128268	ENSG00000128268	2.4.1.144	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7046	protein-coding gene	gene with protein product		604621				8370666	Standard	NM_002409		Approved	GNT-III	uc010gxy.3	Q09327	OTTHUMG00000030185	ENST00000341184.6:c.778G>A	chr22.hg19:g.39884130G>A	ENSP00000345270:p.Gly260Ser	67.0	0.0		56.0	8.0	NM_002409	A6NGD0|Q14CK5|Q6IC49|Q9UH32	Missense_Mutation	SNP	ENST00000341184.6	hg19	CCDS13994.2	.	.	.	.	.	.	.	.	.	.	G	29.4	5.004391	0.93287	.	.	ENSG00000128268	ENST00000341184	.	.	.	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.76644	0.4016	L	0.54908	1.71	0.58432	D	0.999995	D	0.89917	1.0	D	0.87578	0.998	T	0.75912	-0.3150	9	0.48119	T	0.1	.	19.2349	0.93855	0.0:0.0:1.0:0.0	.	260	Q09327	MGAT3_HUMAN	S	260	.	ENSP00000345270:G260S	G	+	1	0	MGAT3	38214076	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.289000	0.96061	2.571000	0.86741	0.561000	0.74099	GGC	.	G|0.999;A|0.001		0.647	MGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075039.2	NM_002409	
ARSH	347527	hgsc.bcm.edu	37	X	2947346	2947346	+	Missense_Mutation	SNP	C	C	T			TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chrX:2947346C>T	ENST00000381130.2	+	8	1258	c.1258C>T	c.(1258-1260)Cac>Tac	p.H420Y		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	420					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				CCACTCCGACCACGAGTTCCT	0.547																																					p.H420Y		Atlas-SNP	.											.	ARSH	72	.	0			c.C1258T						.						147.0	111.0	123.0					X																	2947346		2203	4300	6503	SO:0001583	missense	347527	exon8			TCCGACCACGAGT	AY875940	CCDS35198.1	Xp22.33	2013-02-14	2006-03-07		ENSG00000205667	ENSG00000205667		"""Arylsulfatase family"""	32488	protein-coding gene	gene with protein product		300586	"""arylsulfatase H"""			16174644	Standard	NM_001011719		Approved		uc011mhj.2	Q5FYA8	OTTHUMG00000159612	ENST00000381130.2:c.1258C>T	chrX.hg19:g.2947346C>T	ENSP00000370522:p.His420Tyr	165.0	0.0		175.0	75.0	NM_001011719		Missense_Mutation	SNP	ENST00000381130.2	hg19	CCDS35198.1	.	.	.	.	.	.	.	.	.	.	C	13.75	2.329060	0.41197	.	.	ENSG00000205667	ENST00000381130	D	0.91237	-2.81	3.5	3.5	0.40072	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	U	0.000000	D	0.96393	0.8823	H	0.94808	3.585	0.44380	D	0.997287	D	0.89917	1.0	D	0.85130	0.997	D	0.97493	1.0055	10	0.87932	D	0	.	14.4689	0.67501	0.0:1.0:0.0:0.0	.	420	Q5FYA8	ARSH_HUMAN	Y	420	ENSP00000370522:H420Y	ENSP00000370522:H420Y	H	+	1	0	ARSH	2957346	1.000000	0.71417	0.008000	0.14137	0.002000	0.02628	6.342000	0.72982	1.377000	0.46286	0.600000	0.82982	CAC	.	.		0.547	ARSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356489.1	NM_001011719	
CYBB	1536	hgsc.bcm.edu	37	X	37668941	37668941	+	Missense_Mutation	SNP	C	C	G			TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chrX:37668941C>G	ENST00000378588.4	+	12	1650	c.1583C>G	c.(1582-1584)cCt>cGt	p.P528R	CYBB_ENST00000536160.1_Missense_Mutation_p.P261R|CYBB_ENST00000545017.1_Missense_Mutation_p.P496R|TM4SF2_ENST00000465127.1_Intron	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	528					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|hydrogen peroxide biosynthetic process (GO:0050665)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|respiratory burst (GO:0045730)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|neuronal cell body (GO:0043025)|phagocytic vesicle membrane (GO:0030670)|rough endoplasmic reticulum (GO:0005791)	flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32					Dextromethorphan(DB00514)	AGTCAACACCCTAAGTAAGGA	0.403																																					p.P528R		Atlas-SNP	.											.	CYBB	62	.	0			c.C1583G						.						85.0	69.0	75.0					X																	37668941		2202	4299	6501	SO:0001583	missense	1536	exon12			AACACCCTAAGTA	X04011	CCDS14242.1	Xp21.1	2014-09-17	2008-07-29		ENSG00000165168	ENSG00000165168		"""Cytochrome b genes"""	2578	protein-coding gene	gene with protein product		300481	"""chronic granulomatous disease"""	CGD			Standard	NM_000397		Approved	GP91-PHOX, NOX2	uc004ddr.2	P04839	OTTHUMG00000033175	ENST00000378588.4:c.1583C>G	chrX.hg19:g.37668941C>G	ENSP00000367851:p.Pro528Arg	168.0	0.0		245.0	43.0	NM_000397	A8K138|Q2PP16	Missense_Mutation	SNP	ENST00000378588.4	hg19	CCDS14242.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.342125	0.81911	.	.	ENSG00000165168	ENST00000378588;ENST00000545017;ENST00000536160	D;D;D	0.95069	-3.6;-3.6;-3.6	5.81	5.81	0.92471	Ferric reductase, NAD binding (1);	0.046961	0.85682	D	0.000000	D	0.95398	0.8506	M	0.65320	2	0.80722	D	1	B;P	0.45348	0.296;0.856	B;P	0.50754	0.183;0.649	D	0.94454	0.7670	10	0.37606	T	0.19	.	19.0421	0.93004	0.0:1.0:0.0:0.0	.	496;528	F5GWD2;P04839	.;CY24B_HUMAN	R	528;496;261	ENSP00000367851:P528R;ENSP00000441896:P496R;ENSP00000441958:P261R	ENSP00000367851:P528R	P	+	2	0	CYBB	37553885	1.000000	0.71417	0.996000	0.52242	0.986000	0.74619	7.362000	0.79507	2.446000	0.82766	0.600000	0.82982	CCT	.	.		0.403	CYBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080881.1		
RBM10	8241	hgsc.bcm.edu	37	X	47030585	47030585	+	Missense_Mutation	SNP	T	T	G	rs377667483		TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chrX:47030585T>G	ENST00000377604.3	+	4	1102	c.360T>G	c.(358-360)gaT>gaG	p.D120E	RBM10_ENST00000329236.7_Intron|RBM10_ENST00000345781.6_Intron	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	120	Poly-Glu.				3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						aggaggaggatgaggaggagg	0.667													T|||	2	0.000529801	0.0	0.0	3775	,	,		8316	0.002		0.0	False		,,,				2504	0.0				p.D185E	Melanoma(171;120 2705 19495 39241)	Atlas-SNP	.											.	RBM10	117	.	0			c.T555G						.						20.0	19.0	20.0					X																	47030585		2202	4297	6499	SO:0001583	missense	8241	exon4			GGAGGATGAGGAG	U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"""Zinc fingers, RAN-binding domain containing"", ""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.360T>G	chrX.hg19:g.47030585T>G	ENSP00000366829:p.Asp120Glu	106.0	0.0		130.0	6.0	NM_001204468	C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	Missense_Mutation	SNP	ENST00000377604.3	hg19	CCDS14274.1	.	.	.	.	.	.	.	.	.	.	T	1.034	-0.680868	0.03353	.	.	ENSG00000182872	ENST00000377604	T	0.10960	2.82	2.89	-2.28	0.06826	Nucleotide-binding, alpha-beta plait (1);	0.397395	0.18197	N	0.148658	T	0.03783	0.0107	N	0.08118	0	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.49153	-0.8969	10	0.02654	T	1	-3.1034	10.6013	0.45369	0.0:0.0:0.7699:0.2301	.	185;120;120	Q7Z3D7;P98175-2;P98175	.;.;RBM10_HUMAN	E	120	ENSP00000366829:D120E	ENSP00000366829:D120E	D	+	3	2	RBM10	46915529	0.996000	0.38824	0.881000	0.34555	0.930000	0.56654	-0.096000	0.11059	-0.655000	0.05387	-0.549000	0.04216	GAT	.	.		0.667	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056381.1	NM_005676	
TRO	7216	hgsc.bcm.edu	37	X	54955556	54955556	+	Missense_Mutation	SNP	G	G	T			TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chrX:54955556G>T	ENST00000173898.7	+	12	2511	c.2399G>T	c.(2398-2400)aGc>aTc	p.S800I	TRO_ENST00000375022.4_Intron|TRO_ENST00000399736.1_Intron|TRO_ENST00000375041.2_Missense_Mutation_p.S403I|SNORA11_ENST00000408823.1_RNA|TRO_ENST00000420798.2_Missense_Mutation_p.S331I|TRO_ENST00000319167.8_Intron	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	800	62 X 10 AA approximate tandem repeats.				embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						TGTGCACACAGCACCAGCACT	0.522																																					p.S800I		Atlas-SNP	.											.	TRO	246	.	0			c.G2399T						.						64.0	63.0	64.0					X																	54955556		2176	4269	6445	SO:0001583	missense	7216	exon12			CACACAGCACCAG	U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.2399G>T	chrX.hg19:g.54955556G>T	ENSP00000173898:p.Ser800Ile	109.0	0.0		127.0	45.0	NM_001039705	B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Missense_Mutation	SNP	ENST00000173898.7	hg19	CCDS43959.1	.	.	.	.	.	.	.	.	.	.	G	0.954	-0.705407	0.03255	.	.	ENSG00000067445	ENST00000173898;ENST00000420798;ENST00000375041	T;T;T	0.24151	1.87;1.87;1.87	3.15	0.304	0.15796	.	.	.	.	.	T	0.14874	0.0359	L	0.39898	1.24	0.09310	N	1	P;P	0.44578	0.838;0.718	B;B	0.32864	0.154;0.154	T	0.15521	-1.0434	9	0.87932	D	0	.	4.5843	0.12275	0.2392:0.1816:0.5792:0.0	.	403;800	B1AKE9;Q12816	.;TROP_HUMAN	I	800;331;403	ENSP00000173898:S800I;ENSP00000405126:S331I;ENSP00000364181:S403I	ENSP00000173898:S800I	S	+	2	0	TRO	54972281	0.001000	0.12720	0.001000	0.08648	0.005000	0.04900	0.981000	0.29526	-0.053000	0.13289	-0.217000	0.12591	AGC	.	.		0.522	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056837.3	NM_016157	
TBX22	50945	hgsc.bcm.edu	37	X	79282319	79282319	+	Silent	SNP	C	C	T			TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chrX:79282319C>T	ENST00000373294.5	+	5	778	c.750C>T	c.(748-750)tcC>tcT	p.S250S	TBX22_ENST00000442340.1_Silent_p.S130S|TBX22_ENST00000373296.3_Silent_p.S250S|TBX22_ENST00000373291.1_Silent_p.S130S	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	250					multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						AAACATTCTCCTTTAAAGAAA	0.478																																					p.S250S		Atlas-SNP	.											.	TBX22	118	.	0			c.C750T						.						115.0	88.0	97.0					X																	79282319		2203	4300	6503	SO:0001819	synonymous_variant	50945	exon5			ATTCTCCTTTAAA	AL031000	CCDS14445.1, CCDS43975.1	Xq21.1	2011-02-11			ENSG00000122145	ENSG00000122145		"""T-boxes"""	11600	protein-coding gene	gene with protein product		300307	"""cleft palate and/or ankyloglossia"""	CPX, CLPA		11559848, 14729838	Standard	NM_001109878		Approved		uc004edj.1	Q9Y458	OTTHUMG00000021901	ENST00000373294.5:c.750C>T	chrX.hg19:g.79282319C>T		117.0	0.0		129.0	59.0	NM_016954	Q5JZ06|Q96LC0|Q9HBF1	Silent	SNP	ENST00000373294.5	hg19	CCDS14445.1																																																																																			.	.		0.478	TBX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057334.1	NM_016954	
CD99L2	83692	hgsc.bcm.edu	37	X	150067008	150067008	+	Silent	SNP	G	G	T			TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chrX:150067008G>T	ENST00000370377.3	-	1	171	c.54C>A	c.(52-54)acC>acA	p.T18T	CD99L2_ENST00000355149.3_Silent_p.T18T|CD99L2_ENST00000466436.1_Silent_p.T18T|CD99L2_ENST00000437787.2_Silent_p.T18T|CD99L2_ENST00000320893.6_Silent_p.T18T|CD99L2_ENST00000346693.4_5'UTR	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	18					cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GCTGGACCAGGGTGGCCAAGG	0.736																																					p.T18T		Atlas-SNP	.											.	CD99L2	47	.	0			c.C54A						.						3.0	2.0	2.0					X																	150067008		1338	2322	3660	SO:0001819	synonymous_variant	83692	exon1			GACCAGGGTGGCC	BC030536	CCDS14697.1, CCDS14698.1, CCDS35427.1, CCDS55527.1, CCDS76044.1	Xq28	2007-12-04	2006-03-28	2003-02-14	ENSG00000102181	ENSG00000102181			18237	protein-coding gene	gene with protein product		300846	"""MIC2 like 1"", ""CD99 antigen-like 2"""	MIC2L1			Standard	NM_001184808		Approved	CD99B	uc004fek.3	Q8TCZ2	OTTHUMG00000024247	ENST00000370377.3:c.54C>A	chrX.hg19:g.150067008G>T		65.0	0.0		110.0	55.0	NM_001242614	A8K2D5|A8K5R0|B3KWG2|B4DDL7|E7EMK5|E9PD27|Q8TAW2|Q8TCZ0|Q8TCZ1|Q9BQG9	Silent	SNP	ENST00000370377.3	hg19	CCDS35427.1																																																																																			.	.		0.736	CD99L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000061199.1	NM_031462	
IRAK1	3654	hgsc.bcm.edu	37	X	153282005	153282005	+	Missense_Mutation	SNP	G	G	T			TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chrX:153282005G>T	ENST00000369980.3	-	9	1286	c.1119C>A	c.(1117-1119)agC>agA	p.S373R	IRAK1_ENST00000369974.2_Missense_Mutation_p.S373R|IRAK1_ENST00000429936.2_Missense_Mutation_p.S399R|IRAK1_ENST00000393682.1_Missense_Mutation_p.S399R|IRAK1_ENST00000477274.1_5'UTR|IRAK1_ENST00000393687.2_Missense_Mutation_p.S373R	NM_001025242.1|NM_001569.3	NP_001020413.1|NP_001560.2	P51617	IRAK1_HUMAN	interleukin-1 receptor-associated kinase 1	373	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to hypoxia (GO:0071456)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to peptidoglycan (GO:0032494)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|interleukin-1 receptor complex (GO:0045323)|lipid particle (GO:0005811)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|NF-kappaB-inducing kinase activity (GO:0004704)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGCTGCTCTGGCTGGGGCTGG	0.642																																					p.S373R		Atlas-SNP	.											.	IRAK1	107	.	0			c.C1119A						.						41.0	40.0	40.0					X																	153282005		2203	4300	6503	SO:0001583	missense	3654	exon9			GCTCTGGCTGGGG	L76191	CCDS14740.1, CCDS35443.1, CCDS35444.1	Xq28	2011-07-08			ENSG00000184216	ENSG00000184216			6112	protein-coding gene	gene with protein product		300283				9374458, 8599092	Standard	XM_005274668		Approved	IRAK, pelle	uc004fjs.1	P51617	OTTHUMG00000024228	ENST00000369980.3:c.1119C>A	chrX.hg19:g.153282005G>T	ENSP00000358997:p.Ser373Arg	196.0	0.0		251.0	55.0	NM_001569	D3DWW3|D3DWW4|Q7Z5V4|Q96C06|Q96RL2	Missense_Mutation	SNP	ENST00000369980.3	hg19	CCDS14740.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	14.19|14.19|14.19	2.462192|2.462192|2.462192	0.43736|0.43736|0.43736	.|.|.	.|.|.	ENSG00000184216|ENSG00000184216|ENSG00000184216	ENST00000437278|ENST00000443220|ENST00000369980;ENST00000369974;ENST00000393682;ENST00000393687;ENST00000429936	.|.|T;D;D;T;T	.|.|0.93307	.|.|1.37;-3.2;-3.2;1.37;1.37	4.85|4.85|4.85	-0.0032|-0.0032|-0.0032	0.14027|0.14027|0.14027	.|.|Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|.|0.477395	.|.|0.19313	.|.|N	.|.|0.117346	D|D|D	0.87767|0.87767|0.87767	0.6260|0.6260|0.6260	N|N|N	0.25647|0.25647|0.25647	0.755|0.755|0.755	0.22330|0.22330|0.22330	N|N|N	0.999194|0.999194|0.999194	.|.|D;P;P	.|.|0.54601	.|.|0.967;0.915;0.896	.|.|P;P;P	.|.|0.54965	.|.|0.663;0.765;0.653	T|T|T	0.79165|0.79165|0.79165	-0.1916|-0.1916|-0.1916	5|5|10	.|.|0.11485	.|.|T	.|.|0.65	-9.5279|-9.5279|-9.5279	1.5518|1.5518|1.5518	0.02576|0.02576|0.02576	0.2342:0.2613:0.3658:0.1388|0.2342:0.2613:0.3658:0.1388|0.2342:0.2613:0.3658:0.1388	.|.|.	.|.|373;373;373	.|.|P51617-4;P51617;P51617-2	.|.|.;IRAK1_HUMAN;.	D|T|R	46|144|373;373;399;373;399	.|.|ENSP00000358997:S373R;ENSP00000358991:S373R;ENSP00000377287:S399R;ENSP00000377291:S373R;ENSP00000392662:S399R	.|.|ENSP00000358991:S373R	A|P|S	-|-|-	2|1|3	0|0|2	IRAK1|IRAK1|IRAK1	152935199|152935199|152935199	0.041000|0.041000|0.041000	0.20044|0.20044|0.20044	0.862000|0.862000|0.862000	0.33874|0.33874|0.33874	0.813000|0.813000|0.813000	0.45954|0.45954|0.45954	-0.132000|-0.132000|-0.132000	0.10467|0.10467|0.10467	0.292000|0.292000|0.292000	0.22492|0.22492|0.22492	0.529000|0.529000|0.529000	0.55759|0.55759|0.55759	GCC|CCA|AGC	.	.		0.642	IRAK1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061143.3		
PRUNE2	158471	hgsc.bcm.edu	37	9	79244125	79244125	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chr9:79244125delA	ENST00000376718.3	-	16	9255	c.9132delT	c.(9130-9132)attfs	p.I3044fs	PRUNE2_ENST00000223609.6_Frame_Shift_Del_p.I309fs|PRUNE2_ENST00000443509.2_Frame_Shift_Del_p.I293fs|PRUNE2_ENST00000466266.2_Intron|PRUNE2_ENST00000428286.1_Frame_Shift_Del_p.I2686fs	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	3044	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TGCTCTCTGGAATGTGGATGC	0.383																																					p.P3045fs		Atlas-Indel,Pindel	.											.	PRUNE2	331	.	0			c.9133delC						.						93.0	83.0	86.0					9																	79244125		1568	3582	5150	SO:0001589	frameshift_variant	158471	exon16			.	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.9132delT	chr9.hg19:g.79244125delA	ENSP00000365908:p.Ile3044fs	42.0	0.0		27.0	15.0	NM_015225	B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Frame_Shift_Del	DEL	ENST00000376718.3	hg19	CCDS47982.1																																																																																			.	.		0.383	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818	
ALB	213	hgsc.bcm.edu	37	4	74283302	74283306	+	Frame_Shift_Del	DEL	AGAGG	AGAGG	-			TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	AGAGG	AGAGG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chr4:74283302_74283306delAGAGG	ENST00000503124.1	+	9	1101_1105	c.894_898delAGAGG	c.(892-900)gtagaggtcfs	p.VEV298fs	ALB_ENST00000415165.2_Frame_Shift_Del_p.VEV256fs|ALB_ENST00000505649.1_Intron|ALB_ENST00000509063.1_Frame_Shift_Del_p.VEV448fs|ALB_ENST00000295897.4_Frame_Shift_Del_p.VEV448fs|ALB_ENST00000401494.3_Frame_Shift_Del_p.VEV333fs			Q8TES7	FBF1_HUMAN	albumin	0					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)				NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CAACTCTTGTAGAGGTCTCAAGAAA	0.39																																					p.448_449del		Atlas-Indel,Pindel	.											.	ALB	132	.	0			c.1343_1347del						.																																			SO:0001589	frameshift_variant	213	exon11			.	V00494	CCDS3555.1	4q13.3	2008-02-05	2006-06-30	2006-06-30	ENSG00000163631	ENSG00000163631			399	protein-coding gene	gene with protein product		103600				6292049, 6192711	Standard	NM_000477		Approved		uc003hgs.4	P02768	OTTHUMG00000129919	ENST00000503124.1:c.894_898delAGAGG	chr4.hg19:g.74283302_74283306delAGAGG	ENSP00000421027:p.Val298fs	212.0	0.0		212.0	55.0	NM_000477	B5MEM5|Q96IF6|Q96JG4|Q96MA8	Frame_Shift_Del	DEL	ENST00000503124.1	hg19																																																																																				.	.		0.390	ALB-011	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000365419.1	NM_000477	
TEP1	7011	hgsc.bcm.edu	37	14	20841220	20841226	+	Frame_Shift_Del	DEL	CTTGATT	CTTGATT	-			TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	CTTGATT	CTTGATT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chr14:20841220_20841226delCTTGATT	ENST00000262715.5	-	48	6935_6941	c.6895_6901delAATCAAG	c.(6895-6903)aatcaagctfs	p.NQA2299fs	TEP1_ENST00000545983.1_Frame_Shift_Del_p.NQA637fs|TEP1_ENST00000556935.1_Frame_Shift_Del_p.NQA2191fs	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2299					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		AGTTCCCCAGCTTGATTTCCAGATACT	0.522																																					p.2299_2301del		Atlas-Indel,Pindel	.											.	TEP1	224	.	0			c.6896_6902del						.																																			SO:0001589	frameshift_variant	7011	exon48			.		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.6895_6901delAATCAAG	chr14.hg19:g.20841220_20841226delCTTGATT	ENSP00000262715:p.Asn2299fs	58.0	0.0		80.0	27.0	NM_007110	A0AUV9	Frame_Shift_Del	DEL	ENST00000262715.5	hg19	CCDS9548.1																																																																																			.	.		0.522	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110	
NCOA3	8202	hgsc.bcm.edu	37	20	46262325	46262326	+	Frame_Shift_Ins	INS	-	-	T			TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chr20:46262325_46262326insT	ENST00000371998.3	+	9	1100_1101	c.909_910insT	c.(910-912)tttfs	p.F304fs	NCOA3_ENST00000371997.3_Frame_Shift_Ins_p.F304fs|NCOA3_ENST00000341724.6_Frame_Shift_Ins_p.F304fs|NCOA3_ENST00000372004.3_Frame_Shift_Ins_p.F304fs			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	304					androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GTATTCAGAGATTTTTTAGTCT	0.347																																					p.R303fs		Atlas-Indel,Pindel	.											.	NCOA3	156	.	0			c.909_910insT						.																																			SO:0001589	frameshift_variant	8202	exon9			.	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.915dupT	chr20.hg19:g.46262331_46262331dupT	ENSP00000361066:p.Phe304fs	234.0	0.0		301.0	63.0	NM_181659	A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Frame_Shift_Ins	INS	ENST00000371998.3	hg19	CCDS13407.1																																																																																			.	.		0.347	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534	
ACACA	31	hgsc.bcm.edu	37	17	35454834	35454840	+	Frame_Shift_Del	DEL	ATGGTAA	ATGGTAA	-			TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	ATGGTAA	ATGGTAA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chr17:35454834_35454840delATGGTAA	ENST00000394406.2	-	53	6724_6730	c.6534_6540delTTACCAT	c.(6532-6540)atttaccatfs	p.IYH2178fs	ACACA_ENST00000353139.5_Frame_Shift_Del_p.IYH2215fs|ACACA_ENST00000335166.5_Frame_Shift_Del_p.IYH2100fs|ACACA_ENST00000360679.3_Frame_Shift_Del_p.IYH2120fs|ACACA_ENST00000361253.5_Frame_Shift_Del_p.IYH304fs	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	2178	Carboxyltransferase.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CGGCTACCTGATGGTAAATGGGAATTA	0.502																																					p.2216_2218del	Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	Atlas-Indel,Pindel	.											.	ACACA	395	.	0			c.6646_6652del						.																																			SO:0001589	frameshift_variant	31	exon53			.	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.6534_6540delTTACCAT	chr17.hg19:g.35454834_35454840delATGGTAA	ENSP00000377928:p.Ile2178fs	124.0	0.0		127.0	22.0	NM_198834	B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Frame_Shift_Del	DEL	ENST00000394406.2	hg19	CCDS11317.1																																																																																			.	.		0.502	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836	
MDGA1	266727	hgsc.bcm.edu	37	6	37614119	37614120	+	Frame_Shift_Ins	INS	-	-	A			TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chr6:37614119_37614120insA	ENST00000434837.3	-	11	3256_3257	c.2078_2079insT	c.(2077-2079)atcfs	p.I693fs	MDGA1_ENST00000505425.1_Frame_Shift_Ins_p.I693fs|MDGA1_ENST00000510077.1_5'UTR|MDGA1_ENST00000297153.7_Frame_Shift_Ins_p.I696fs	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	693	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				brain development (GO:0007420)|cerebral cortex radially oriented cell migration (GO:0021799)|neuron migration (GO:0001764)|spinal cord association neuron differentiation (GO:0021527)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						GCCGGACCGGGATGGCCTTGAC	0.574																																					p.I693fs		Atlas-INDEL	.											.	MDGA1	104	.	0			c.2079_2080insT						.																																			SO:0001589	frameshift_variant	266727	exon11			.	AF478693	CCDS47417.1	6p21	2013-01-29			ENSG00000112139	ENSG00000112139		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19267	protein-coding gene	gene with protein product		609626				15922729, 15019943	Standard	NM_153487		Approved	GPIM, MAMDC3	uc003onu.1	Q8NFP4	OTTHUMG00000014626	ENST00000434837.3:c.2079dupT	chr6.hg19:g.37614120_37614120dupA	ENSP00000402584:p.Ile693fs	59.0	0.0		64.0	11.0	NM_153487	A6NHG0|Q8NBE3	Frame_Shift_Ins	INS	ENST00000434837.3	hg19	CCDS47417.1																																																																																			.	.		0.574	MDGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040419.3		
AADAT	51166	hgsc.bcm.edu	37	4	170983132	170983140	+	In_Frame_Del	DEL	GGAGCATTA	GGAGCATTA	-			TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	GGAGCATTA	GGAGCATTA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chr4:170983132_170983140delGGAGCATTA	ENST00000337664.4	-	12	1415_1423	c.1139_1147delTAATGCTCC	c.(1138-1149)ttaatgctccct>tct	p.380_383LMLP>S	AADAT_ENST00000509167.1_In_Frame_Del_p.384_387LMLP>S|AADAT_ENST00000353187.2_In_Frame_Del_p.380_383LMLP>S|AADAT_ENST00000515480.1_In_Frame_Del_p.380_383LMLP>S	NM_016228.3	NP_057312.1	Q8N5Z0	AADAT_HUMAN	aminoadipate aminotransferase	380				L -> S (in Ref. 3; BAG51596). {ECO:0000305}.	2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate metabolic process (GO:0006536)|kynurenine metabolic process (GO:0070189)|L-kynurenine metabolic process (GO:0097052)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	mitochondrial matrix (GO:0005759)	2-aminoadipate transaminase activity (GO:0047536)|kynurenine-oxoglutarate transaminase activity (GO:0016212)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|pancreas(1)|stomach(1)	11		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118)		GCATTTCCAGGGAGCATTAATACCTAAGA	0.402																																					p.380_383del		Pindel	.											.	AADAT	28	.	0			c.1140_1148del						.																																			SO:0001651	inframe_deletion	51166	exon13			.	AF097994	CCDS3814.1, CCDS75209.1	4q33	2010-12-09			ENSG00000109576	ENSG00000109576	2.6.1.39		17929	protein-coding gene	gene with protein product	"""kynurenine aminotransferase II"", ""L kynurenine/alpha aminoadipate aminotransferase"""	611754				12126930, 10441733	Standard	NM_182662		Approved	KATII, KAT2	uc003isr.3	Q8N5Z0	OTTHUMG00000160912	ENST00000337664.4:c.1139_1147delTAATGCTCC	chr4.hg19:g.170983132_170983140delGGAGCATTA	ENSP00000336808:p.Leu380_Pro383delinsSer	76.0	0.0		70.0	13.0	NM_182662	B3KP84|Q9UL02	In_Frame_Del	DEL	ENST00000337664.4	hg19	CCDS3814.1																																																																																			.	.		0.402	AADAT-004	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000362952.1	NM_016228	
CDH15	1013	hgsc.bcm.edu	37	16	89258218	89258218	+	Frame_Shift_Del	DEL	C	C	-			TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chr16:89258218delC	ENST00000289746.2	+	10	1596	c.1531delC	c.(1531-1533)cccfs	p.P512fs		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	512	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)	caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		TGAGGACCTGCCCCCCCACGG	0.731																																					p.L510fs		Pindel	.											.	CDH15	54	.	0			c.1530delG						.						9.0	12.0	11.0					16																	89258218		2085	4090	6175	SO:0001589	frameshift_variant	1013	exon10			.	D83542	CCDS10976.1	16q24.3	2010-01-26	2008-10-30		ENSG00000129910	ENSG00000129910		"""Cadherins / Major cadherins"""	1754	protein-coding gene	gene with protein product		114019	"""cadherin 15, M-cadherin (myotubule)"""	CDH3, CDH14		1427864	Standard	NM_004933		Approved		uc002fmt.3	P55291	OTTHUMG00000138045	ENST00000289746.2:c.1531delC	chr16.hg19:g.89258218delC	ENSP00000289746:p.Pro512fs	89.0	0.0		85.0	11.0	NM_004933		Frame_Shift_Del	DEL	ENST00000289746.2	hg19	CCDS10976.1																																																																																			.	.		0.731	CDH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269920.1	NM_004933	
HERC1	8925	hgsc.bcm.edu	37	15	63926085	63926086	+	Frame_Shift_Ins	INS	-	-	T	rs371382538		TCGA-2Y-A9GZ-01A-11D-A38X-10	TCGA-2Y-A9GZ-10A-01D-A38X-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	305468d6-2f54-40f3-b39c-1b9adca1fe5d	4b702138-675a-4fe6-aacd-936c58da3d98	g.chr15:63926085_63926086insT	ENST00000443617.2	-	67	12741_12742	c.12654_12655insA	c.(12652-12657)aaactafs	p.L4219fs		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4219					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CCTAAGCCTAGTTTTCCATAGT	0.426																																					p.L4219fs		Pindel	.											.	HERC1	624	.	0			c.12655_12656insA						.																																			SO:0001589	frameshift_variant	8925	exon67			.	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.12655dupA	chr15.hg19:g.63926089_63926089dupT	ENSP00000390158:p.Leu4219fs	231.0	0.0		173.0	34.0	NM_003922	Q8IW65	Frame_Shift_Ins	INS	ENST00000443617.2	hg19	CCDS45277.1																																																																																			.	.		0.426	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922	
