#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_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_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_Trna_alt1	i_Trna_alt2	i_Trna_ref	i_Trna_tot	i_Trna_var	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_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
AGMAT	79814	hgsc.bcm.edu	37	1	15911349	15911349	+	Silent	SNP	G	G	A	rs3737705	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr1:15911349G>A	ENST00000375826.3	-	1	256	c.114C>T	c.(112-114)gaC>gaT	p.D38D	DNAJC16_ENST00000483270.1_Intron|RP4-680D5.2_ENST00000428945.1_RNA	NM_024758.4	NP_079034.3	Q9BSE5	SPEB_HUMAN	agmatine ureohydrolase (agmatinase)	38					agmatine biosynthetic process (GO:0097055)|cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|putrescine biosynthetic process from arginine (GO:0033388)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	agmatinase activity (GO:0008783)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(6)|lung(2)|skin(1)	12		Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649)		TCCGGGGCGCGTCGGAAGCCT	0.791													G|||	1691	0.33766	0.2685	0.3084	5008	,	,		9254	0.5794		0.2952	False		,,,				2504	0.2464				p.D38D	NSCLC(126;1678 1780 25805 43508 49531)	.											.	AGMAT-91	0			c.C114T						.	G		446,1872		44,358,757	2.0	3.0	3.0		114	-4.1	0.0	1	dbSNP_107	3	1412,4272		187,1038,1617	no	coding-synonymous	AGMAT	NM_024758.4		231,1396,2374	AA,AG,GG		24.8417,19.2407,23.2192		38/353	15911349	1858,6144	1159	2842	4001	SO:0001819	synonymous_variant	79814	exon1			GGGCGCGTCGGAA	AY057097	CCDS160.1	1p36.13	2009-01-05			ENSG00000116771	ENSG00000116771			18407	protein-coding gene	gene with protein product						11804860, 14648699, 11914032	Standard	NM_024758		Approved	FLJ23384	uc001awv.2	Q9BSE5	OTTHUMG00000002357	ENST00000375826.3:c.114C>T	1.37:g.15911349G>A		0	0		5	5	NM_024758	0	0	0	1	1	Q5TDH1|Q9H5J3	Silent	SNP	ENST00000375826.3	37	CCDS160.1																																																																																			G|0.647;A|0.353		0.791	AGMAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006763.1	NM_024758	
TRIM63	84676	hgsc.bcm.edu	37	1	26386772	26386772	+	Silent	SNP	G	G	T			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr1:26386772G>T	ENST00000374272.3	-	4	720	c.582C>A	c.(580-582)tcC>tcA	p.S194S	TRIM63_ENST00000483052.1_5'Flank	NM_032588.3	NP_115977.2	Q969Q1	TRI63_HUMAN	tripartite motif containing 63, E3 ubiquitin protein ligase	194	Interaction with TTN.				cellular response to dexamethasone stimulus (GO:0071549)|muscle contraction (GO:0006936)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of gene expression (GO:0010468)|response to electrical stimulus involved in regulation of muscle adaptation (GO:0014878)|response to interleukin-1 (GO:0070555)|signal transduction (GO:0007165)|skeletal muscle atrophy (GO:0014732)	contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|titin binding (GO:0031432)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;9.15e-26)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000767)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		TCACTCGACGGGAATCCTCCA	0.567																																					p.S194S		.											.	TRIM63-226	0			c.C582A						.						118.0	109.0	112.0					1																	26386772		2203	4300	6503	SO:0001819	synonymous_variant	84676	exon4			TCGACGGGAATCC	AF353673	CCDS273.1	1p34-p33	2014-09-17	2012-02-23	2004-11-17	ENSG00000158022	ENSG00000158022		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	16007	protein-coding gene	gene with protein product	"""muscle-specific RING finger protein 1"", ""iris ring finger protein"", ""striated muscle RING zinc finger protein"""	606131	"""ring finger protein 28"", ""tripartite motif-containing 63"", ""tripartite motif containing 63"""	RNF28		11243782, 11283016	Standard	NM_032588		Approved	MURF-1, IRF, SMRZ	uc001bli.2	Q969Q1	OTTHUMG00000007510	ENST00000374272.3:c.582C>A	1.37:g.26386772G>T		62	0		45	4	NM_032588	0	0	0	0	0	B4DN95|Q5T2I1|Q96BD3|Q96KD9|Q9BYV4	Silent	SNP	ENST00000374272.3	37	CCDS273.1																																																																																			.		0.567	TRIM63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019750.1	NM_032588	
PTGER3	5733	broad.mit.edu	37	1	71512493	71512493	+	Silent	SNP	C	C	T			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr1:71512493C>T	ENST00000306666.5	-	1	978	c.768G>A	c.(766-768)ctG>ctA	p.L256L	ZRANB2-AS1_ENST00000450461.1_RNA|PTGER3_ENST00000356595.4_Silent_p.L256L|PTGER3_ENST00000370932.2_Silent_p.L256L|PTGER3_ENST00000370924.4_Silent_p.L256L|PTGER3_ENST00000351052.5_Silent_p.L256L|PTGER3_ENST00000370931.3_Silent_p.L256L|PTGER3_ENST00000414819.1_Silent_p.L256L|PTGER3_ENST00000460330.1_Silent_p.L256L|PTGER3_ENST00000354608.5_Silent_p.L256L	NM_198719.1	NP_942012.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)	256					cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of fever generation (GO:0031622)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|prostaglandin E receptor activity (GO:0004957)			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)|Dinoprostone(DB00917)|Misoprostol(DB00929)	AGCGGGACACCAGGGCCTTAA	0.612																																					p.L256L		.											.	PTGER3-660	0			c.G768A						.						67.0	68.0	67.0					1																	71512493		2203	4300	6503	SO:0001819	synonymous_variant	5733	exon1			GGACACCAGGGCC	X83863	CCDS652.1, CCDS655.1, CCDS656.1, CCDS657.1, CCDS658.1	1p31.2	2012-08-08			ENSG00000050628	ENSG00000050628		"""GPCR / Class A : Prostanoid receptors"""	9595	protein-coding gene	gene with protein product		176806				7759114, 9073510	Standard	NM_001126044		Approved	EP3	uc001dfo.3	P43115	OTTHUMG00000009399	ENST00000306666.5:c.768G>A	1.37:g.71512493C>T		139	0		114	4	NM_001126044	0	0	0	0	0	B0AZN4|B1AK19|B5BUP5|O00326|Q12943|Q12944|Q12945|Q16546|Q5CZ59|Q5CZ61|Q5CZ62|Q5CZ63|Q5CZ64	Silent	SNP	ENST00000306666.5	37	CCDS657.1																																																																																			.		0.612	PTGER3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026076.1	NM_000957	
HRNR	388697	broad.mit.edu;bcgsc.ca	37	1	152188140	152188140	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr1:152188140C>T	ENST00000368801.2	-	3	6040	c.5965G>A	c.(5965-5967)Ggc>Agc	p.G1989S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1989					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGACCTAAGCCAGAAGAGTGA	0.577																																					p.G1989S		.											.	HRNR-93	0			c.G5965A						.						35.0	57.0	50.0					1																	152188140		1614	3447	5061	SO:0001583	missense	388697	exon3			CTAAGCCAGAAGA	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.5965G>A	1.37:g.152188140C>T	ENSP00000357791:p.Gly1989Ser	2748	0		3928	167	NM_001009931	0	0	0	0	0	Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	C	9.195	1.026985	0.19512	.	.	ENSG00000197915	ENST00000368801	T	0.01947	4.54	3.2	-2.84	0.05751	.	.	.	.	.	T	0.00384	0.0012	L	0.28458	0.855	0.09310	N	1	P	0.43094	0.799	B	0.30782	0.12	T	0.41431	-0.9509	9	0.05436	T	0.98	.	8.8485	0.35186	0.0:0.4058:0.0:0.5942	.	1989	Q86YZ3	HORN_HUMAN	S	1989	ENSP00000357791:G1989S	ENSP00000357791:G1989S	G	-	1	0	HRNR	150454764	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.733000	0.04898	-0.499000	0.06623	0.505000	0.49811	GGC	.		0.577	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868	
FLG	2312	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	152280081	152280081	+	Silent	SNP	G	G	T			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr1:152280081G>T	ENST00000368799.1	-	3	7316	c.7281C>A	c.(7279-7281)gcC>gcA	p.A2427A	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2427	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCGTCCATGGGCGGACTCAG	0.597									Ichthyosis																												p.A2427A		.											.	FLG-106	0			c.C7281A						.						251.0	236.0	241.0					1																	152280081		2203	4300	6503	SO:0001819	synonymous_variant	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	TCCATGGGCGGAC	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.7281C>A	1.37:g.152280081G>T		309	0		481	116	NM_002016	0	0	0	0	0	Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	CCDS30860.1																																																																																			.		0.597	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016	
OBSCN	84033	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	228526051	228526051	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr1:228526051G>A	ENST00000422127.1	+	68	17106	c.17062G>A	c.(17062-17064)Gac>Aac	p.D5688N	OBSCN_ENST00000284548.11_Missense_Mutation_p.D5688N|OBSCN_ENST00000366707.4_Missense_Mutation_p.D3322N|OBSCN_ENST00000366709.4_Missense_Mutation_p.D2807N|OBSCN_ENST00000570156.2_Missense_Mutation_p.D6645N	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5688					apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGTGTCTGAAGACGAATACAA	0.622																																					p.D6645N		.											.	OBSCN-403	0			c.G19933A						.						33.0	42.0	39.0					1																	228526051		2026	4173	6199	SO:0001583	missense	84033	exon79			TCTGAAGACGAAT	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.17062G>A	1.37:g.228526051G>A	ENSP00000409493:p.Asp5688Asn	31	0		55	9	NM_001271223	0	0	2	2	0	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	CCDS58065.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.5|21.5	4.158340|4.158340	0.78114|0.78114	.|.	.|.	ENSG00000154358|ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709|ENST00000441106	T;T;T;T|.	0.62941|.	0.38;-0.01;0.01;0.51|.	4.59|4.59	4.59|4.59	0.56863|0.56863	Dbl homology (DH) domain (1);|.	0.141275|.	0.47093|.	D|.	0.000248|.	T|T	0.55433|0.55433	0.1920|0.1920	L|L	0.27053|0.27053	0.805|0.805	0.46631|0.46631	D|D	0.999135|0.999135	P;P|.	0.49783|.	0.883;0.928|.	B;P|.	0.46758|.	0.327;0.526|.	T|T	0.51988|0.51988	-0.8635|-0.8635	10|5	0.66056|.	D|.	0.02|.	.|.	17.5666|17.5666	0.87921|0.87921	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	5688;5688|.	Q5VST9;Q5VST9-3|.	OBSCN_HUMAN;.|.	N|K	5688;5688;3322;2807|303	ENSP00000284548:D5688N;ENSP00000409493:D5688N;ENSP00000355668:D3322N;ENSP00000355670:D2807N|.	ENSP00000284548:D5688N|.	D|R	+|+	1|2	0|0	OBSCN|OBSCN	226592674|226592674	1.000000|1.000000	0.71417|0.71417	0.966000|0.966000	0.40874|0.40874	0.047000|0.047000	0.14425|0.14425	8.400000|8.400000	0.90200|0.90200	2.383000|2.383000	0.81215|0.81215	0.491000|0.491000	0.48974|0.48974	GAC|AGA	.		0.622	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843	
PCNXL2	80003	bcgsc.ca	37	1	233225848	233225848	+	Silent	SNP	T	T	C	rs12059884	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr1:233225848T>C	ENST00000258229.9	-	23	4269	c.4035A>G	c.(4033-4035)acA>acG	p.T1345T		NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1345						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TGACATATGATGTGATGAAAA	0.413													T|||	669	0.133586	0.3548	0.1066	5008	,	,		17968	0.0		0.1014	False		,,,				2504	0.0245				p.T1345T		.											.	PCNXL2-91	0			c.A4035G						.	T		1090,2644		175,740,952	115.0	110.0	112.0		4035	-11.7	0.0	1	dbSNP_120	112	1008,7208		59,890,3159	no	coding-synonymous	PCNXL2	NM_014801.3		234,1630,4111	CC,CT,TT		12.2687,29.1912,17.5565		1345/2138	233225848	2098,9852	1867	4108	5975	SO:0001819	synonymous_variant	80003	exon23			ATATGATGTGATG	AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.4035A>G	1.37:g.233225848T>C		120	0		147	6	NM_014801	0	0	0	0	0	O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Silent	SNP	ENST00000258229.9	37	CCDS44335.1																																																																																			T|0.854;C|0.146		0.413	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801	
RYR2	6262	bcgsc.ca	37	1	237958589	237958589	+	Splice_Site	SNP	G	G	T			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr1:237958589G>T	ENST00000366574.2	+	96	14231	c.13914G>T	c.(13912-13914)caG>caT	p.Q4638H	RYR2_ENST00000360064.6_Splice_Site_p.Q4644H|RYR2_ENST00000542537.1_Splice_Site_p.Q4622H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4638					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TATATTTTAGGTCATTTCCCA	0.249																																					p.Q4638H		.											.	RYR2-158	0			c.G13914T						.						35.0	33.0	34.0					1																	237958589		1782	4032	5814	SO:0001630	splice_region_variant	6262	exon96			TTTTAGGTCATTT	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.13914-1G>T	1.37:g.237958589G>T		142	0		127	6	NM_001035	0	0	0	0	0	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.062708	0.55432	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000536033	D;D;D	0.96651	-4.08;-4.05;-4.07	5.45	4.51	0.55191	.	0.000000	0.64402	U	0.000015	D	0.92273	0.7549	N	0.14661	0.345	0.52501	D	0.999955	P;P	0.46277	0.808;0.875	P;P	0.49140	0.601;0.459	D	0.89804	0.3977	9	.	.	.	.	8.5779	0.33609	0.2401:0.0:0.7599:0.0	.	71;4638	F5H3C7;Q92736	.;RYR2_HUMAN	H	4638;4644;4622;71	ENSP00000355533:Q4638H;ENSP00000353174:Q4644H;ENSP00000443798:Q4622H	.	Q	+	3	2	RYR2	236025212	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	1.908000	0.39907	1.371000	0.46172	0.491000	0.48974	CAG	.		0.249	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	Missense_Mutation
CSGALNACT2	55454	broad.mit.edu	37	10	43659419	43659419	+	Missense_Mutation	SNP	G	G	T	rs79064394		TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr10:43659419G>T	ENST00000374466.3	+	5	1421	c.1086G>T	c.(1084-1086)ttG>ttT	p.L362F		NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	362					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050652)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)	p.L362F(5)		endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GAGAGGTCTTGATGTTTTTCT	0.433																																					p.L362F		.											.	CSGALNACT2-69	5	Substitution - Missense(5)	endometrium(4)|kidney(1)	c.G1086T						.						223.0	221.0	222.0					10																	43659419		2203	4300	6503	SO:0001583	missense	55454	exon5			GGTCTTGATGTTT	AF116646	CCDS7201.1	10q11.21	2013-02-19			ENSG00000169826	ENSG00000169826		"""Beta 4-glycosyltransferases"""	24292	protein-coding gene	gene with protein product	"""chondroitin beta1,4 N-acetylgalactosaminyltransferase 2"""					12446672	Standard	NM_018590		Approved	GALNACT2, MGC40204, PRO0082, GALNACT-2	uc001jan.4	Q8N6G5	OTTHUMG00000018023	ENST00000374466.3:c.1086G>T	10.37:g.43659419G>T	ENSP00000363590:p.Leu362Phe	124	0		194	4	NM_018590	0	0	2	2	0	B3KWL7|Q6MZJ5|Q6MZP6|Q8TCH4|Q9P1I6	Missense_Mutation	SNP	ENST00000374466.3	37	CCDS7201.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.499782	0.85176	.	.	ENSG00000169826	ENST00000374466	T	0.27256	1.68	6.08	5.17	0.71159	.	0.064535	0.64402	D	0.000004	T	0.57359	0.2048	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.63721	-0.6573	10	0.87932	D	0	-11.7375	14.8306	0.70146	0.0683:0.0:0.9317:0.0	.	362	Q8N6G5	CGAT2_HUMAN	F	362	ENSP00000363590:L362F	ENSP00000363590:L362F	L	+	3	2	CSGALNACT2	42979425	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.683000	0.37638	2.894000	0.99253	0.591000	0.81541	TTG	.		0.433	CSGALNACT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047693.1	NM_018590	
NPFFR1	64106	hgsc.bcm.edu	37	10	72014863	72014863	+	Silent	SNP	G	G	A	rs60225321	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr10:72014863G>A	ENST00000277942.6	-	4	1142	c.1143C>T	c.(1141-1143)tcC>tcT	p.S381S		NM_022146.4	NP_071429.1	Q9GZQ6	NPFF1_HUMAN	neuropeptide FF receptor 1	381					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)			endometrium(2)|lung(1)	3						AGGGCAGCCCGGAGTCGCTGG	0.751													G|||	392	0.0782748	0.1165	0.0303	5008	,	,		10955	0.0942		0.0487	False		,,,				2504	0.0746				p.S381S		.											.	NPFFR1-22	0			c.C1143T						.	G		209,2965		3,203,1381	3.0	5.0	4.0		1143	-9.4	0.2	10	dbSNP_129	4	215,6851		0,215,3318	no	coding-synonymous	NPFFR1	NM_022146.4		3,418,4699	AA,AG,GG		3.0427,6.5848,4.1406		381/431	72014863	424,9816	1587	3533	5120	SO:0001819	synonymous_variant	64106	exon4			CAGCCCGGAGTCG	AB040104	CCDS53539.1	10q21-q22	2012-08-10	2006-02-15	2006-02-15	ENSG00000148734	ENSG00000148734		"""GPCR / Class A :  Neuropeptide receptors : FF/AF"", ""GPCR / Class A : RF amide peptide receptors"""	17425	protein-coding gene	gene with protein product	"""neuropeptide FF 1"""	607448	"""G protein-coupled receptor 147"""	GPR147		11024015	Standard	NM_022146		Approved	OT7T022, NPFF1R1	uc021psj.1	Q9GZQ6	OTTHUMG00000018404	ENST00000277942.6:c.1143C>T	10.37:g.72014863G>A		0	0		18	11	NM_022146	0	0	0	0	0	A2RRF0|Q8NGR0|Q96RN3	Silent	SNP	ENST00000277942.6	37	CCDS53539.1																																																																																			G|0.929;A|0.071		0.751	NPFFR1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048504.2	NM_022146	
NRG3	10718	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	84745227	84745227	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr10:84745227G>A	ENST00000404547.1	+	10	2029	c.2029G>A	c.(2029-2031)Gcc>Acc	p.A677T	NRG3_ENST00000537893.1_Missense_Mutation_p.A303T|NRG3_ENST00000404576.2_Missense_Mutation_p.A457T|NRG3_ENST00000556918.1_Missense_Mutation_p.A483T|NRG3_ENST00000372142.2_Missense_Mutation_p.A456T|NRG3_ENST00000372141.2_Missense_Mutation_p.A653T|NRG3_ENST00000545131.1_Missense_Mutation_p.A303T			P56975	NRG3_HUMAN	neuregulin 3	677					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|intracellular signal transduction (GO:0035556)|mammary placode formation (GO:0060596)|pattern specification process (GO:0007389)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	growth factor activity (GO:0008083)|receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		CTACGAACTGGCCAGCGTAGA	0.473																																					p.A653T		.											.	NRG3-522	0			c.G1957A						.						73.0	69.0	71.0					10																	84745227		2203	4300	6503	SO:0001583	missense	10718	exon9			GAACTGGCCAGCG	AK098823	CCDS31233.1, CCDS53547.1	10q22-q23	2003-09-09			ENSG00000185737	ENSG00000185737			7999	protein-coding gene	gene with protein product		605533				9275162	Standard	NM_001010848		Approved		uc001kco.2	P56975	OTTHUMG00000018626	ENST00000404547.1:c.2029G>A	10.37:g.84745227G>A	ENSP00000384796:p.Ala677Thr	71	0		96	43	NM_001010848	0	0	2	2	0	A4D7U1|Q0PEH2|Q5VYH3	Missense_Mutation	SNP	ENST00000404547.1	37	CCDS31233.1	.	.	.	.	.	.	.	.	.	.	G	14.41	2.525718	0.44969	.	.	ENSG00000185737	ENST00000372141;ENST00000404547;ENST00000537287;ENST00000372142;ENST00000404576;ENST00000556918;ENST00000545131;ENST00000537893	T;T;T;T;T;T;T	0.53640	1.28;1.23;1.22;0.61;1.17;0.72;0.72	5.54	5.54	0.83059	.	0.141395	0.47852	D	0.000217	T	0.55878	0.1948	N	0.21448	0.665	0.47511	D	0.999441	D;B;D;B	0.71674	0.998;0.319;0.998;0.208	D;B;D;B	0.81914	0.995;0.047;0.995;0.047	T	0.55897	-0.8068	10	0.44086	T	0.13	-29.8512	16.9886	0.86347	0.0:0.0:1.0:0.0	.	652;677;456;653	B9EGV5;P56975;P56975-3;P56975-4	.;NRG3_HUMAN;.;.	T	653;677;652;456;457;483;303;303	ENSP00000361214:A653T;ENSP00000384796:A677T;ENSP00000361215:A456T;ENSP00000385804:A457T;ENSP00000451376:A483T;ENSP00000441201:A303T;ENSP00000440377:A303T	ENSP00000361214:A653T	A	+	1	0	NRG3	84735207	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.894000	0.48640	2.615000	0.88500	0.655000	0.94253	GCC	.		0.473	NRG3-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412262.1	XM_166086	
PIK3AP1	118788	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	98386618	98386618	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr10:98386618G>C	ENST00000339364.5	-	10	1635	c.1516C>G	c.(1516-1518)Ctt>Gtt	p.L506V	PIK3AP1_ENST00000371109.3_Missense_Mutation_p.L105V|PIK3AP1_ENST00000371110.2_Missense_Mutation_p.L328V|PIK3AP1_ENST00000468783.1_5'Flank	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	506					negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of inflammatory response (GO:0050727)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		TCCTGACCAAGATGGCACTGA	0.527																																					p.L506V		.											.	PIK3AP1-519	0			c.C1516G						.						189.0	158.0	168.0					10																	98386618		2203	4300	6503	SO:0001583	missense	118788	exon10			GACCAAGATGGCA	AK092883	CCDS31259.1	10q24.2	2008-10-23			ENSG00000155629	ENSG00000155629			30034	protein-coding gene	gene with protein product		607942				1251844, 11163197	Standard	NM_152309		Approved	BCAP, FLJ35564	uc001kmq.3	Q6ZUJ8	OTTHUMG00000018838	ENST00000339364.5:c.1516C>G	10.37:g.98386618G>C	ENSP00000339826:p.Leu506Val	135	0		187	87	NM_152309	0	0	0	0	0	Q5TB56|Q5VXJ9|Q8N6J6|Q8NAC8	Missense_Mutation	SNP	ENST00000339364.5	37	CCDS31259.1	.	.	.	.	.	.	.	.	.	.	G	8.438	0.850279	0.17034	.	.	ENSG00000155629	ENST00000339364;ENST00000371110;ENST00000371109	T;T;T	0.23950	2.9;2.22;1.88	5.77	2.71	0.32032	.	1.021040	0.07765	N	0.950715	T	0.11580	0.0282	N	0.08118	0	0.09310	N	1	B;B	0.26547	0.066;0.152	B;B	0.24155	0.014;0.051	T	0.34477	-0.9827	10	0.10636	T	0.68	-0.061	5.9394	0.19184	0.0683:0.2215:0.504:0.2062	.	506;105	Q6ZUJ8;Q6ZUJ8-3	BCAP_HUMAN;.	V	506;328;105	ENSP00000339826:L506V;ENSP00000360151:L328V;ENSP00000360150:L105V	ENSP00000339826:L506V	L	-	1	0	PIK3AP1	98376608	0.000000	0.05858	0.001000	0.08648	0.164000	0.22412	-0.095000	0.11077	0.800000	0.34041	0.561000	0.74099	CTT	.		0.527	PIK3AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049619.2	NM_152309	
GPAM	57678	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	113924340	113924340	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr10:113924340G>A	ENST00000348367.4	-	13	1447	c.1250C>T	c.(1249-1251)cCg>cTg	p.P417L	GPAM_ENST00000369425.1_Missense_Mutation_p.P417L|GPAM_ENST00000423155.1_Missense_Mutation_p.P417L			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	417					acyl-CoA metabolic process (GO:0006637)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|defense response to virus (GO:0051607)|fatty acid homeostasis (GO:0055089)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|interleukin-2 secretion (GO:0070970)|negative regulation of activation-induced cell death of T cells (GO:0070236)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of multicellular organism growth (GO:0040018)|regulation of cytokine secretion (GO:0050707)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)	p.P417L(1)		breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		AGCAGACACCGGTTTCTGACT	0.368																																					p.P417L	Ovarian(161;1017 2606 18293 52943)	.											.	GPAM-92	1	Substitution - Missense(1)	lung(1)	c.C1250T						.						67.0	70.0	69.0					10																	113924340		2203	4300	6503	SO:0001583	missense	57678	exon13			GACACCGGTTTCT	AL832464	CCDS7570.1	10q25.3	2009-07-15			ENSG00000119927	ENSG00000119927			24865	protein-coding gene	gene with protein product	"""glycerol-3-phosphate acyltransferase 1, mitochondrial"""	602395				10997877, 8369314	Standard	NM_020918		Approved	KIAA1560, MGC26846, GPAT1	uc001kzp.3	Q9HCL2	OTTHUMG00000019055	ENST00000348367.4:c.1250C>T	10.37:g.113924340G>A	ENSP00000265276:p.Pro417Leu	53	0		100	48	NM_001244949	0	0	0	0	0	Q5VW51|Q86TA3	Missense_Mutation	SNP	ENST00000348367.4	37	CCDS7570.1	.	.	.	.	.	.	.	.	.	.	G	12.61	1.990400	0.35131	.	.	ENSG00000119927	ENST00000348367;ENST00000423155;ENST00000369425	T;T;T	0.69306	-0.39;-0.39;-0.39	5.25	4.31	0.51392	.	0.188167	0.48767	D	0.000177	T	0.45696	0.1355	L	0.34521	1.04	0.50039	D	0.999849	P;P	0.41131	0.739;0.524	B;B	0.25614	0.062;0.043	T	0.42732	-0.9434	10	0.11182	T	0.66	-15.8771	13.1613	0.59547	0.0:0.0:0.84:0.16	.	417;417	Q5VW52;Q9HCL2	.;GPAT1_HUMAN	L	417	ENSP00000265276:P417L;ENSP00000409242:P417L;ENSP00000358433:P417L	ENSP00000265276:P417L	P	-	2	0	GPAM	113914330	1.000000	0.71417	0.884000	0.34674	0.674000	0.39518	5.342000	0.65970	1.122000	0.41944	0.643000	0.83706	CCG	.		0.368	GPAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050377.1	NM_020918	
PNLIP	5406	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	118318731	118318731	+	Silent	SNP	T	T	G			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr10:118318731T>G	ENST00000369221.2	+	10	1024	c.996T>G	c.(994-996)ccT>ccG	p.P332P		NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	332					intestinal cholesterol absorption (GO:0030299)|lipid catabolic process (GO:0016042)|lipid digestion (GO:0044241)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|triglyceride lipase activity (GO:0004806)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Glycerol Phenylbutyrate(DB08909)|Orlistat(DB01083)	ATAGATATCCTGGGAAAACAA	0.398																																					p.P332P		.											.	PNLIP-92	0			c.T996G						.						109.0	105.0	107.0					10																	118318731		2203	4300	6503	SO:0001819	synonymous_variant	5406	exon10			ATATCCTGGGAAA	BC014309	CCDS7594.1	10q25.3	2012-07-31			ENSG00000175535	ENSG00000175535	3.1.1.3		9155	protein-coding gene	gene with protein product		246600				1783385	Standard	NM_000936		Approved	PL	uc001lcm.3	P16233	OTTHUMG00000019103	ENST00000369221.2:c.996T>G	10.37:g.118318731T>G		96	0		134	62	NM_000936	0	0	0	0	0	Q5VSQ2	Silent	SNP	ENST00000369221.2	37	CCDS7594.1																																																																																			.		0.398	PNLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050524.1	NM_000936	
ENO4	387712	hgsc.bcm.edu;bcgsc.ca;mdanderson.org	37	10	118633606	118633606	+	Missense_Mutation	SNP	T	T	C			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr10:118633606T>C	ENST00000369207.2	+	7	706	c.530T>C	c.(529-531)gTg>gCg	p.V177A	ENO4_ENST00000341276.5_Missense_Mutation_p.V415A|ENO4_ENST00000409522.1_Intron			A6NNW6	ENO4_HUMAN	enolase family member 4	415					glycolytic process (GO:0006096)	phosphopyruvate hydratase complex (GO:0000015)	magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)			lung(1)	1						AAGTATGAAGTGATCATGGGC	0.353																																					p.V412A		.											.	ENO4-69	0			c.T1235C						.																																			SO:0001583	missense	387712	exon10			ATGAAGTGATCAT		CCDS73206.1	10q25.3	2012-04-19	2009-12-15	2009-12-15	ENSG00000188316	ENSG00000188316			31670	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 134"""	C10orf134			Standard	NM_001242699		Approved	AC023283.3	uc021pzj.1	A6NNW6	OTTHUMG00000019113	ENST00000369207.2:c.530T>C	10.37:g.118633606T>C	ENSP00000358208:p.Val177Ala	109	0		125	51	NM_001242699	0	0	0	0	0	B8ZZN9	Missense_Mutation	SNP	ENST00000369207.2	37		.	.	.	.	.	.	.	.	.	.	T	16.74	3.206143	0.58234	.	.	ENSG00000188316	ENST00000341276;ENST00000369207	T;T	0.52526	0.66;0.66	5.95	5.95	0.96441	.	0.062472	0.64402	D	0.000007	T	0.61236	0.2331	L	0.61036	1.89	0.42866	D	0.994129	.	.	.	.	.	.	T	0.60352	-0.7280	8	0.42905	T	0.14	-22.8979	16.4237	0.83790	0.0:0.0:0.0:1.0	.	.	.	.	A	415;177	ENSP00000345555:V415A;ENSP00000358208:V177A	ENSP00000345555:V415A	V	+	2	0	ENO4	118623596	1.000000	0.71417	0.971000	0.41717	0.978000	0.69477	5.337000	0.65941	2.279000	0.76181	0.533000	0.62120	GTG	.		0.353	ENO4-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000050552.2	NM_001242699	
LMNTD2	256329	hgsc.bcm.edu	37	11	556372	556372	+	Silent	SNP	C	C	T			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr11:556372C>T	ENST00000329451.3	-	10	1139	c.1077G>A	c.(1075-1077)ccG>ccA	p.P359P	RP11-496I9.1_ENST00000527620.1_RNA|RP11-496I9.1_ENST00000527113.1_RNA	NM_173573.2	NP_775844.2	Q8IXW0	LMTD2_HUMAN		359										NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TCAGGCCTGTCGGGCTGGGAA	0.682																																					p.P359P		.											.	C11orf35-69	0			c.G1077A						.						7.0	8.0	8.0					11																	556372		1823	3457	5280	SO:0001819	synonymous_variant	256329	exon10			GCCTGTCGGGCTG																												ENST00000329451.3:c.1077G>A	11.37:g.556372C>T		0	0		8	8	NM_173573	0	0	0	1	1		Silent	SNP	ENST00000329451.3	37	CCDS7701.1																																																																																			.		0.682	C11orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254973.2		
CDHR5	53841	hgsc.bcm.edu	37	11	617593	617593	+	Missense_Mutation	SNP	G	G	C	rs137998609	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr11:617593G>C	ENST00000358353.3	-	16	2618	c.2296C>G	c.(2296-2298)Cga>Gga	p.R766G	IRF7_ENST00000397570.1_5'Flank|IRF7_ENST00000525445.1_5'Flank|CDHR5_ENST00000349570.7_Missense_Mutation_p.R572G|IRF7_ENST00000397562.3_5'Flank|IRF7_ENST00000348655.6_5'Flank|CDHR5_ENST00000397542.2_Missense_Mutation_p.R766G|IRF7_ENST00000397566.1_5'Flank|IRF7_ENST00000330243.5_5'Flank|IRF7_ENST00000397574.2_5'Flank			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	766					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						CCGCCAGCTCGGGCCGCTGCG	0.751													G|||	40	0.00798722	0.0	0.0187	5008	,	,		9721	0.0		0.0258	False		,,,				2504	0.001				p.R766G		.											.	CDHR5-90	0			c.C2296G						.	G	GLY/ARG,GLY/ARG,GLY/ARG	11,4313		0,11,2151	9.0	11.0	10.0		2278,2296,1714	-1.8	0.0	11	dbSNP_134	10	127,8371		1,125,4123	yes	missense,missense,missense	CDHR5	NM_001171968.1,NM_021924.4,NM_031264.3	125,125,125	1,136,6274	CC,CG,GG		1.4945,0.2544,1.0763	benign,benign,benign	760/840,766/846,572/652	617593	138,12684	2162	4249	6411	SO:0001583	missense	53841	exon15			CAGCTCGGGCCGC	AF258675	CCDS7707.1, CCDS7708.1	11p15.5	2011-07-01	2010-01-25	2010-01-25	ENSG00000099834	ENSG00000099834		"""Cadherins / Cadherin-related"""	7521	protein-coding gene	gene with protein product		606839	"""mucin and cadherin-like"", ""mucin-like protocadherin"""	MUCDHL, MUPCDH		11031102, 10801787	Standard	NM_021924		Approved	FLJ20219, MU-PCDH	uc001lqj.3	Q9HBB8	OTTHUMG00000132018	ENST00000358353.3:c.2296C>G	11.37:g.617593G>C	ENSP00000351118:p.Arg766Gly	0	0		20	19	NM_021924	0	0	0	37	37	C9J7X1|Q9H746|Q9HAU3|Q9HBB5|Q9HBB6|Q9HBB7|Q9NX86|Q9NXI9	Missense_Mutation	SNP	ENST00000358353.3	37	CCDS7707.1	22	0.010073260073260074	0	0.0	5	0.013812154696132596	0	0.0	17	0.022427440633245383	G	4.342	0.062983	0.08388	0.002544	0.014945	ENSG00000099834	ENST00000397542;ENST00000358353;ENST00000349570	T;T;T	0.41758	1.13;1.13;0.99	3.43	-1.76	0.08006	.	.	.	.	.	T	0.10035	0.0246	N	0.08118	0	0.09310	N	1	B;B;B	0.11235	0.0;0.001;0.004	B;B;B	0.08055	0.0;0.002;0.003	T	0.17806	-1.0357	9	0.27082	T	0.32	4.1475	8.5493	0.33442	0.0:0.4378:0.4164:0.1457	.	760;572;766	Q9HBB8-4;Q9HBB8-2;Q9HBB8	.;.;CDHR5_HUMAN	G	766;766;572	ENSP00000380676:R766G;ENSP00000351118:R766G;ENSP00000345726:R572G	ENSP00000345726:R572G	R	-	1	2	CDHR5	607593	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.967000	0.03821	-0.419000	0.07439	-1.560000	0.00886	CGA	G|0.990;C|0.010		0.751	CDHR5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255023.2	NM_021924	
MUC5B	727897	ucsc.edu;bcgsc.ca	37	11	1253942	1253942	+	Silent	SNP	T	T	C	rs908229	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr11:1253942T>C	ENST00000529681.1	+	17	2065	c.2007T>C	c.(2005-2007)taT>taC	p.Y669Y	MUC5B_ENST00000447027.1_Silent_p.Y672Y	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	669					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TGTCCTCCTATGTGCACGCCT	0.667													c|||	2729	0.544928	0.4803	0.6081	5008	,	,		18613	0.6548		0.498	False		,,,				2504	0.5225				p.Y669Y		.											.	.	0			c.T2007C						.	C		2580,1720		569,1442,139	26.0	30.0	29.0		2007	-2.7	0.3	11	dbSNP_86	29	5188,3312		1163,2862,225	no	coding-synonymous	MUC5B	NM_002458.2		1732,4304,364	CC,CT,TT		38.9647,40.0,39.3125		669/5763	1253942	7768,5032	2150	4250	6400	SO:0001819	synonymous_variant	727897	exon17			CTCCTATGTGCAC	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.2007T>C	11.37:g.1253942T>C		46	0		123	16	NM_002458	0	0	0	0	0	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	CCDS44515.2																																																																																			T|0.463;C|0.537		0.667	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093	
MUC5B	727897	bcgsc.ca	37	11	1253969	1253969	+	Silent	SNP	A	A	G	rs72846370		TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr11:1253969A>G	ENST00000529681.1	+	17	2092	c.2034A>G	c.(2032-2034)gtA>gtG	p.V678V	MUC5B_ENST00000447027.1_Silent_p.V681V	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	678					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCAAGGGCGTACAGCTCAGCG	0.682																																					p.V678V		.											.	.	0			c.A2034G						.						23.0	26.0	25.0					11																	1253969		2131	4242	6373	SO:0001819	synonymous_variant	727897	exon17			GGGCGTACAGCTC	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.2034A>G	11.37:g.1253969A>G		35	0		116	12	NM_002458	0	0	0	0	0	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	CCDS44515.2																																																																																			.		0.682	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093	
MUC5B	727897	hgsc.bcm.edu	37	11	1253980	1253980	+	Missense_Mutation	SNP	A	A	G	rs202127660		TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr11:1253980A>G	ENST00000529681.1	+	17	2103	c.2045A>G	c.(2044-2046)gAc>gGc	p.D682G	MUC5B_ENST00000447027.1_Missense_Mutation_p.D685G	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	682					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CAGCTCAGCGACTGGAGGGAC	0.682																																					p.D682G		.											.	.	0			c.A2045G						.						21.0	24.0	23.0					11																	1253980		2116	4228	6344	SO:0001583	missense	727897	exon17			TCAGCGACTGGAG	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.2045A>G	11.37:g.1253980A>G	ENSP00000436812:p.Asp682Gly	25	0		102	10	NM_002458	0	0	0	0	0	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	A	7.541	0.660740	0.14645	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.76060	-0.99;-0.99	4.6	2.72	0.32119	Uncharacterised domain, cysteine-rich (2);	.	.	.	.	T	0.50103	0.1596	N	0.02960	-0.455	0.24874	N	0.992269	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.45920	-0.9228	9	0.87932	D	0	.	8.6635	0.34108	0.2416:0.0:0.7584:0.0	.	682;1341;685	Q9HC84;A7Y9J9;E9PBJ0	MUC5B_HUMAN;.;.	G	682;685;683;718	ENSP00000436812:D682G;ENSP00000415793:D685G	ENSP00000343037:D683G	D	+	2	0	MUC5B	1210556	0.999000	0.42202	0.632000	0.29296	0.070000	0.16714	2.607000	0.46300	0.373000	0.24621	-1.983000	0.00453	GAC	.		0.682	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093	
MUC5B	727897	broad.mit.edu	37	11	1267340	1267340	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr11:1267340C>G	ENST00000529681.1	+	31	9288	c.9230C>G	c.(9229-9231)aCc>aGc	p.T3077S	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.T3080S	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3077	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTTGGGACCACCGGGACCCTC	0.602																																					p.T3077S		.											.	.	0			c.C9230G						.						153.0	168.0	163.0					11																	1267340		2084	4196	6280	SO:0001583	missense	727897	exon31			GGACCACCGGGAC	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.9230C>G	11.37:g.1267340C>G	ENSP00000436812:p.Thr3077Ser	335	0		187	5	NM_002458	0	0	0	0	0	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	C	5.329	0.246034	0.10077	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.17528	2.27;2.46	2.14	0.961	0.19638	.	.	.	.	.	T	0.12944	0.0314	L	0.34521	1.04	0.09310	N	1	B;B	0.17667	0.023;0.023	B;B	0.09377	0.004;0.004	T	0.25710	-1.0124	9	0.87932	D	0	.	8.506	0.33188	0.0:0.3594:0.6406:0.0	.	3660;3080	A7Y9J9;E9PBJ0	.;.	S	3077;3080;3049;3037	ENSP00000436812:T3077S;ENSP00000415793:T3080S	ENSP00000343037:T3049S	T	+	2	0	MUC5B	1223916	0.000000	0.05858	0.002000	0.10522	0.019000	0.09904	-1.667000	0.01961	0.242000	0.21303	0.413000	0.27773	ACC	.		0.602	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093	
BRSK2	9024	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	11	1471882	1471882	+	Silent	SNP	G	G	A			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr11:1471882G>A	ENST00000528841.1	+	14	1737	c.1353G>A	c.(1351-1353)acG>acA	p.T451T	BRSK2_ENST00000528710.1_Silent_p.T391T|BRSK2_ENST00000526678.1_Silent_p.T473T|BRSK2_ENST00000382179.1_Silent_p.T497T|BRSK2_ENST00000308219.9_Silent_p.T451T|BRSK2_ENST00000531197.1_Silent_p.T451T|BRSK2_ENST00000308230.5_Silent_p.T473T|BRSK2_ENST00000544817.1_Silent_p.T146T			Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	451	Pro-rich.				actin cytoskeleton reorganization (GO:0031532)|axonogenesis (GO:0007409)|establishment of cell polarity (GO:0030010)|exocytosis (GO:0006887)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitotic nuclear division (GO:0007067)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		CTGTCCACACGCCAAAGGAGA	0.662																																					p.T497T		.											.	BRSK2-333	0			c.G1491A						.																																			SO:0001819	synonymous_variant	9024	exon14			CCACACGCCAAAG	AF020089	CCDS41590.1, CCDS58106.1, CCDS58107.1, CCDS58108.1, CCDS60696.1	11p15.5	2008-02-05	2003-09-11	2005-01-27	ENSG00000174672	ENSG00000174672			11405	protein-coding gene	gene with protein product	"""serine/threonine kinase 29"""	609236	"""chromsosome 11 open reading frame 7"""	C11orf7, STK29		9852686, 9929968	Standard	NM_001256629		Approved	PEN11B	uc001ltm.4	Q8IWQ3	OTTHUMG00000167089	ENST00000528841.1:c.1353G>A	11.37:g.1471882G>A		10	0		80	67	NM_001256630	0	0	0	0	0	B3KVE9|E9PLM7|O60843|O95099|Q5J5B4|Q6ZMQ4|Q8TB60	Silent	SNP	ENST00000528841.1	37	CCDS58107.1																																																																																			.		0.662	BRSK2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393033.1	NM_003957	
PLCB3	5331	broad.mit.edu	37	11	64034712	64034712	+	Missense_Mutation	SNP	T	T	G			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr11:64034712T>G	ENST00000540288.1	+	30	3573	c.3470T>G	c.(3469-3471)gTc>gGc	p.V1157G	PLCB3_ENST00000325234.5_Missense_Mutation_p.V1090G|PLCB3_ENST00000279230.6_Missense_Mutation_p.V1157G	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	1157					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|regulation of systemic arterial blood pressure (GO:0003073)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						CAGCAGCAGGTCCTGCAACAG	0.672																																					p.V1157G		.											.	PLCB3-228	0			c.T3470G						.						20.0	19.0	19.0					11																	64034712		1955	3801	5756	SO:0001583	missense	5331	exon30			AGCAGGTCCTGCA	Z26649	CCDS8064.1, CCDS53654.1	11q13	2008-03-18			ENSG00000149782	ENSG00000149782	3.1.4.11		9056	protein-coding gene	gene with protein product		600230				7849701	Standard	NM_000932		Approved		uc009ypg.2	Q01970	OTTHUMG00000167816	ENST00000540288.1:c.3470T>G	11.37:g.64034712T>G	ENSP00000443631:p.Val1157Gly	161	17		140	20	NM_000932	0	0	35	35	0	A5PKZ6|G5E960|Q8N1A4	Missense_Mutation	SNP	ENST00000540288.1	37	CCDS8064.1	.	.	.	.	.	.	.	.	.	.	T	14.42	2.529126	0.44969	.	.	ENSG00000149782	ENST00000279230;ENST00000540288;ENST00000325234	T;T;T	0.48201	0.82;0.82;0.82	4.42	3.27	0.37495	PLC-beta, C-terminal (1);	0.657339	0.15374	N	0.265705	T	0.39118	0.1066	L	0.36672	1.1	0.51767	D	0.999933	B;B	0.34200	0.441;0.42	B;B	0.40782	0.326;0.34	T	0.15983	-1.0418	10	0.39692	T	0.17	.	5.3292	0.15922	0.0:0.0924:0.1811:0.7265	.	1090;1157	G5E960;Q01970	.;PLCB3_HUMAN	G	1157;1157;1090	ENSP00000279230:V1157G;ENSP00000443631:V1157G;ENSP00000324660:V1090G	ENSP00000279230:V1157G	V	+	2	0	PLCB3	63791288	0.982000	0.34865	0.991000	0.47740	0.993000	0.82548	2.965000	0.49200	0.724000	0.32296	0.459000	0.35465	GTC	.		0.672	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396405.1		
GSTP1	2950	bcgsc.ca	37	11	67353579	67353579	+	Missense_Mutation	SNP	C	C	T	rs1138272	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr11:67353579C>T	ENST00000398606.3	+	6	590	c.341C>T	c.(340-342)gCg>gTg	p.A114V	GSTP1_ENST00000398603.1_Intron|GSTP1_ENST00000498765.1_3'UTR	NM_000852.3	NP_000843.1	P09211	GSTP1_HUMAN	glutathione S-transferase pi 1	114	GST C-terminal.		A -> V (in allele GSTP1*C; dbSNP:rs1138272). {ECO:0000269|PubMed:9092542, ECO:0000269|Ref.9}.		cellular response to lipopolysaccharide (GO:0071222)|central nervous system development (GO:0007417)|common myeloid progenitor cell proliferation (GO:0035726)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biosynthetic process (GO:0009890)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of leukocyte proliferation (GO:0070664)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of monocyte chemotactic protein-1 production (GO:0071638)|negative regulation of nitric-oxide synthase biosynthetic process (GO:0051771)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|nitric oxide storage (GO:0035732)|positive regulation of superoxide anion generation (GO:0032930)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of stress-activated MAPK cascade (GO:0032872)|response to reactive oxygen species (GO:0000302)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|TRAF2-GSTP1 complex (GO:0097057)|vesicle (GO:0031982)	dinitrosyl-iron complex binding (GO:0035731)|glutathione transferase activity (GO:0004364)|JUN kinase binding (GO:0008432)|kinase regulator activity (GO:0019207)|nitric oxide binding (GO:0070026)|S-nitrosoglutathione binding (GO:0035730)			central_nervous_system(1)|cervix(1)|endometrium(4)|lung(2)|ovary(1)	9					Busulfan(DB01008)|Carboplatin(DB00958)|Chlorambucil(DB00291)|Cisplatin(DB00515)|Clomipramine(DB01242)|Etoposide(DB00773)|Glutathione(DB00143)|Oxaliplatin(DB00526)|Vitamin E(DB00163)	TGGCAGGAGGCGGGCAAGGAT	0.592													C|||	168	0.0335463	0.0053	0.0288	5008	,	,		17961	0.001		0.0706	False		,,,				2504	0.0706				p.A114V		.											.	GSTP1-91	0			c.C341T	GRCh37	CM992339	GSTP1	M	rs1138272	.	C	VAL/ALA	64,4078		0,64,2007	45.0	49.0	48.0		341	0.5	0.1	11	dbSNP_86	48	690,7706		30,630,3538	yes	missense	GSTP1	NM_000852.3	64	30,694,5545	TT,TC,CC		8.2182,1.5451,6.0137	benign	114/211	67353579	754,11784	2071	4198	6269	SO:0001583	missense	2950	exon6			AGGAGGCGGGCAA	U12472	CCDS41679.1	11q13.2	2014-09-17	2008-07-18		ENSG00000084207	ENSG00000084207	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4638	protein-coding gene	gene with protein product		134660		FAEES3, GST3		1885604, 7587384, 19915149	Standard	NM_000852		Approved	GSTP	uc001omf.3	P09211	OTTHUMG00000137430	ENST00000398606.3:c.341C>T	11.37:g.67353579C>T	ENSP00000381607:p.Ala114Val	134	2		90	6	NM_000852	0	0	1	1	0	O00460|Q15690|Q5TZY3	Missense_Mutation	SNP	ENST00000398606.3	37	CCDS41679.1	78	0.03571428571428571	6	0.012195121951219513	14	0.03867403314917127	0	0.0	58	0.07651715039577836	C	8.369	0.834825	0.16820	0.015451	0.082182	ENSG00000084207	ENST00000398606	T	0.04119	3.7	5.3	0.531	0.17108	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.968577	0.08415	N	0.949193	T	0.00328	0.0010	M	0.69463	2.115	0.31278	N	0.6908909999999999	P	0.36412	0.552	B	0.25987	0.065	T	0.32295	-0.9912	9	0.41790	T	0.15	-10.8933	6.256	0.20874	0.5618:0.3405:0.0:0.0977	rs1138272;rs1799811;rs1804665;rs3202011;rs4134657;rs11553894;rs17434783;rs52800258;rs61323549;rs1138272	114	P09211	GSTP1_HUMAN	V	114	ENSP00000381607:A114V	ENSP00000381607:A114V	A	+	2	0	GSTP1	67110155	0.091000	0.21658	0.114000	0.21550	0.111000	0.19643	0.198000	0.17217	0.169000	0.19679	0.563000	0.77884	GCG	C|0.954;T|0.046		0.592	GSTP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268504.1	NM_000852	
TENM4	26011	broad.mit.edu	37	11	78498081	78498081	+	Missense_Mutation	SNP	T	T	G			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr11:78498081T>G	ENST00000278550.7	-	16	2689	c.2227A>C	c.(2227-2229)Acc>Ccc	p.T743P		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	743	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										CAGCGGCAGGTGCCCCCTACG	0.692																																					p.T743P		.											.	.	0			c.A2227C						.						6.0	9.0	8.0					11																	78498081		2026	4087	6113	SO:0001583	missense	26011	exon16			GGCAGGTGCCCCC	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.2227A>C	11.37:g.78498081T>G	ENSP00000278550:p.Thr743Pro	65	9		90	12	NM_001098816	0	0	0	0	0	A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	ENST00000278550.7	37	CCDS44688.1	.	.	.	.	.	.	.	.	.	.	T	19.96	3.923588	0.73213	.	.	ENSG00000149256	ENST00000278550	T	0.03386	3.95	5.07	3.94	0.45596	EGF, extracellular (1);Epidermal growth factor-like (1);	0.106709	0.64402	D	0.000012	T	0.07863	0.0197	M	0.72894	2.215	0.38198	D	0.940111	P	0.45044	0.849	P	0.45406	0.479	T	0.18681	-1.0329	9	.	.	.	.	10.531	0.44977	0.0:0.0756:0.0:0.9244	.	743	Q6N022	TEN4_HUMAN	P	743	ENSP00000278550:T743P	.	T	-	1	0	ODZ4	78175729	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	2.921000	0.48852	0.973000	0.38340	0.459000	0.35465	ACC	.		0.692	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2		
COLCA1	399948	bcgsc.ca	37	11	111167792	111167792	+	5'UTR	SNP	T	T	G	rs10891245	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr11:111167792T>G	ENST00000532918.1	-	0	1817				COLCA1_ENST00000540738.1_5'Flank|COLCA2_ENST00000526216.1_5'Flank|COLCA1_ENST00000355430.4_5'UTR|COLCA2_ENST00000398035.2_5'Flank|COLCA1_ENST00000526150.1_5'Flank			Q6ZS62	COLC1_HUMAN	colorectal cancer associated 1							integral component of membrane (GO:0016021)|membrane (GO:0016020)											GAGATGTGGCTTCAGCTGCCA	0.532													T|||	1537	0.306909	0.1172	0.2723	5008	,	,		20378	0.4187		0.2982	False		,,,				2504	0.4816				.		.											.	C11orf92-226	0			.						.																																			SO:0001623	5_prime_UTR_variant	399948	.			TGTGGCTTCAGCT	AK127703		11q23.1	2013-08-22	2013-08-22	2013-08-22	ENSG00000196167	ENSG00000196167			33789	other	unknown	"""cancer susceptibility candidate 12"""	615693	"""chromosome 11 open reading frame 92"""	C11orf92			Standard	NR_034154		Approved	FLJ45803, CASC12	uc001pld.3	Q6ZS62	OTTHUMG00000166658	ENST00000532918.1:c.-589A>C	11.37:g.111167792T>G		67	0		52	4	.	0	0	0	0	0		RNA	SNP	ENST00000532918.1	37																																																																																				T|0.700;G|0.300		0.532	COLCA1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000390999.1		
SLCO1B7	338821	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	12	21196449	21196449	+	Silent	SNP	T	T	C			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr12:21196449T>C	ENST00000421593.2	+	6	768	c.768T>C	c.(766-768)gaT>gaC	p.D256D	LST3_ENST00000381541.3_Silent_p.D303D|SLCO1B7_ENST00000554957.1_Silent_p.D303D|LST3_ENST00000540229.1_Intron|SLCO1B3_ENST00000553473.1_Intron	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)	256						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						AAACTAATGATAAAAGGAATC	0.289																																					p.D256D		.											.	.	0			c.T768C						.						58.0	59.0	59.0					12																	21196449		2171	4283	6454	SO:0001819	synonymous_variant	338821	exon6			TAATGATAAAAGG	AF401642	CCDS44843.1	12p12.3	2013-05-22			ENSG00000205754	ENSG00000205754		"""Solute carriers"""	32934	protein-coding gene	gene with protein product							Standard	NM_001009562		Approved	LST3, SLC21A21		G3V0H7	OTTHUMG00000169045	ENST00000421593.2:c.768T>C	12.37:g.21196449T>C		20	0		27	11	NM_001009562	0	0	0	0	0	Q71QF0	Silent	SNP	ENST00000421593.2	37	CCDS44843.1																																																																																			.		0.289	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402066.1	NM_001009562	
SLC2A13	114134	hgsc.bcm.edu	37	12	40499118	40499118	+	Silent	SNP	G	G	A			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr12:40499118G>A	ENST00000280871.4	-	1	543	c.493C>T	c.(493-495)Ctg>Ttg	p.L165L	SLC2A13_ENST00000380858.1_Silent_p.L165L	NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	165					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				GCCGCAGCCAGCACCGCGGAG	0.726										HNSCC(50;0.14)																											p.L165L		.											.	SLC2A13-515	0			c.C493T						.						7.0	10.0	9.0					12																	40499118		2150	4198	6348	SO:0001819	synonymous_variant	114134	exon1			CAGCCAGCACCGC	AJ315644	CCDS8736.2	12q12	2013-05-22			ENSG00000151229	ENSG00000151229		"""Solute carriers"""	15956	protein-coding gene	gene with protein product	"""H(+)-myo-inositol symporter"""	611036				11500374	Standard	NM_052885		Approved	HMIT	uc010skm.2	Q96QE2	OTTHUMG00000059743	ENST00000280871.4:c.493C>T	12.37:g.40499118G>A		4	0		93	50	NM_052885	0	0	0	2	2	Q17S07	Silent	SNP	ENST00000280871.4	37	CCDS8736.2																																																																																			.		0.726	SLC2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132849.2		
TMEM19	55266	hgsc.bcm.edu;broad.mit.edu	37	12	72091182	72091182	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr12:72091182G>T	ENST00000266673.5	+	4	1099	c.505G>T	c.(505-507)Gct>Tct	p.A169S	RP11-293I14.2_ENST00000548802.1_3'UTR|TMEM19_ENST00000549735.1_Missense_Mutation_p.A169S	NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN	transmembrane protein 19	169						integral component of membrane (GO:0016021)				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		GCAGTACTCCGCTTCCTGGAT	0.517																																					p.A169S		.											.	TMEM19-90	0			c.G505T						.						103.0	103.0	103.0					12																	72091182		2203	4300	6503	SO:0001583	missense	55266	exon4			TACTCCGCTTCCT	BC008596	CCDS9002.1	12q15	2004-03-04				ENSG00000139291			25605	protein-coding gene	gene with protein product						12477932	Standard	NM_018279		Approved	FLJ10936	uc001sws.3	Q96HH6	OTTHUMG00000169558	ENST00000266673.5:c.505G>T	12.37:g.72091182G>T	ENSP00000266673:p.Ala169Ser	58	0		72	4	NM_018279	0	0	5	5	0	B2RDL2|Q53FY3|Q9NV41	Missense_Mutation	SNP	ENST00000266673.5	37	CCDS9002.1	.	.	.	.	.	.	.	.	.	.	G	19.68	3.872369	0.72180	.	.	ENSG00000139291	ENST00000266673;ENST00000550524;ENST00000549735;ENST00000546677;ENST00000546795	.	.	.	5.94	5.94	0.96194	.	0.049668	0.85682	D	0.000000	T	0.72771	0.3502	L	0.46567	1.45	0.80722	D	1	D;D	0.71674	0.998;0.992	D;P	0.71656	0.974;0.869	T	0.63296	-0.6669	9	0.11485	T	0.65	-15.4776	20.3736	0.98901	0.0:0.0:1.0:0.0	.	169;169	Q96HH6;Q96HH6-2	TMM19_HUMAN;.	S	169;169;169;68;13	.	ENSP00000266673:A169S	A	+	1	0	TMEM19	70377449	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.717000	0.98755	2.820000	0.97059	0.650000	0.86243	GCT	.		0.517	TMEM19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404801.1	NM_018279	
GALNT4	8693	broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	89916603	89916603	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr12:89916603C>T	ENST00000529983.2	-	1	1980	c.1724G>A	c.(1723-1725)aGt>aAt	p.S575N	POC1B_ENST00000393179.4_Intron|POC1B_ENST00000549504.1_Intron|POC1B_ENST00000549035.1_Intron|POC1B_ENST00000313546.3_Intron|POC1B_ENST00000541909.1_Intron|RP11-734K2.4_ENST00000605233.1_RNA|GALNT4_ENST00000413530.1_Missense_Mutation_p.S403N|POC1B-GALNT4_ENST00000548729.1_Missense_Mutation_p.S572N|POC1B-GALNT4_ENST00000547474.1_3'UTR	NM_003774.4	NP_003765.2	Q8N4A0	GALT4_HUMAN	polypeptide N-acetylgalactosaminyltransferase 4	575	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			endometrium(4)|kidney(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)	14						TTTCTCAAAACTCCAAATTTG	0.418																																					p.S575N		.											.	.	0			c.G1724A						.						107.0	107.0	107.0					12																	89916603		1861	4099	5960	SO:0001583	missense	8693	exon1			TCAAAACTCCAAA	Y08564	CCDS53817.1	12q21.33	2014-03-13	2014-03-13		ENSG00000257594	ENSG00000257594	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4126	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 4"""	603565	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 4 (GalNAc-T4)"""			9804815	Standard	NM_003774		Approved	GalNAc-T4	uc001tbd.3	Q8N4A0	OTTHUMG00000166292	ENST00000529983.2:c.1724G>A	12.37:g.89916603C>T	ENSP00000436604:p.Ser575Asn	80	2		104	25	NM_003774	0	0	0	0	0	B2R775|B4DMX6|O00208	Missense_Mutation	SNP	ENST00000529983.2	37	CCDS53817.1	.	.	.	.	.	.	.	.	.	.	C	10.56	1.385602	0.25031	.	.	ENSG00000259075;ENSG00000259075;ENSG00000257594	ENST00000548729;ENST00000413530;ENST00000529983	T;T;T	0.29917	1.55;1.55;1.55	5.93	3.0	0.34707	Ricin B-related lectin (1);Ricin B lectin (2);	.	.	.	.	T	0.23330	0.0564	L	0.45228	1.405	0.26354	N	0.977159	B;B	0.19200	0.034;0.006	B;B	0.20384	0.029;0.013	T	0.22487	-1.0215	9	0.25106	T	0.35	.	6.0697	0.19883	0.0:0.4959:0.0:0.5041	.	572;575	F8VUJ3;Q8N4A0	.;GALT4_HUMAN	N	572;403;575	ENSP00000447852:S572N;ENSP00000389686:S403N;ENSP00000436604:S575N	ENSP00000436604:S575N	S	-	2	0	GALNT4;RP11-1109F11.4	88440734	0.992000	0.36948	0.997000	0.53966	0.975000	0.68041	1.655000	0.37345	0.748000	0.32831	0.591000	0.81541	AGT	.		0.418	GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388973.2	NM_003774	
C12orf65	91574	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	123738436	123738436	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr12:123738436G>T	ENST00000253233.1	+	2	859	c.215G>T	c.(214-216)gGc>gTc	p.G72V	RP11-282O18.3_ENST00000541002.3_RNA|C12orf65_ENST00000366329.2_Missense_Mutation_p.G72V|C12orf65_ENST00000429587.2_Missense_Mutation_p.G72V|RP11-282O18.3_ENST00000543217.2_RNA	NM_152269.4	NP_689482.1	Q9H3J6	CL065_HUMAN	chromosome 12 open reading frame 65	72	GGQ domain. {ECO:0000250}.				cell death (GO:0008219)	mitochondrion (GO:0005739)	translation release factor activity (GO:0003747)			endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000595)|Epithelial(86;0.00199)		GGTCCAGGGGGCCAGGCAACC	0.557																																					p.G72V		.											.	C12orf65-90	0			c.G215T						.						65.0	70.0	68.0					12																	123738436		2203	4300	6503	SO:0001583	missense	91574	exon2			CAGGGGGCCAGGC	AK095982	CCDS9244.1	12q24.31	2013-01-07			ENSG00000130921	ENSG00000130921			26784	protein-coding gene	gene with protein product		613541				20598281, 22688947, 23188110	Standard	NM_152269		Approved	FLJ38663, SPG55	uc001uen.3	Q9H3J6	OTTHUMG00000168852	ENST00000253233.1:c.215G>T	12.37:g.123738436G>T	ENSP00000253233:p.Gly72Val	140	1		139	53	NM_001194995	0	0	15	29	14	Q8WUC6	Missense_Mutation	SNP	ENST00000253233.1	37	CCDS9244.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.930061	0.92389	.	.	ENSG00000130921	ENST00000253233;ENST00000546132;ENST00000366329;ENST00000543139;ENST00000429587	T;T;T;T;T	0.74209	-0.82;-0.82;-0.82;-0.82;-0.82	5.25	5.25	0.73442	Peptide chain release factor class I/class II (1);	0.000000	0.85682	D	0.000000	D	0.91616	0.7351	H	0.97265	3.97	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94523	0.7729	10	0.87932	D	0	-15.9795	18.8572	0.92257	0.0:0.0:1.0:0.0	.	72	Q9H3J6	CL065_HUMAN	V	72	ENSP00000253233:G72V;ENSP00000441796:G72V;ENSP00000390647:G72V;ENSP00000444843:G72V;ENSP00000391513:G72V	ENSP00000253233:G72V	G	+	2	0	C12orf65	122304389	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.712000	0.98738	2.456000	0.83038	0.561000	0.74099	GGC	.		0.557	C12orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401375.1	NM_152269	
PCDH20	64881	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	13	61986775	61986775	+	Missense_Mutation	SNP	T	T	C			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr13:61986775T>C	ENST00000409186.1	-	5	3562	c.1457A>G	c.(1456-1458)gAa>gGa	p.E486G	PCDH20_ENST00000409204.4_Missense_Mutation_p.E486G			Q8N6Y1	PCD20_HUMAN	protocadherin 20	486	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		TAGTAAATATTCATTATTGTA	0.403																																					p.E486G		.											.	PCDH20-581	0			c.A1457G						.						113.0	113.0	113.0					13																	61986775		2203	4300	6503	SO:0001583	missense	64881	exon2			AAATATTCATTAT	AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"""Cadherins / Protocadherins : Non-clustered"""	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.1457A>G	13.37:g.61986775T>C	ENSP00000386653:p.Glu486Gly	154	0		177	91	NM_022843	0	0	0	0	0	A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Missense_Mutation	SNP	ENST00000409186.1	37	CCDS9442.2	.	.	.	.	.	.	.	.	.	.	T	19.33	3.806710	0.70682	.	.	ENSG00000197991	ENST00000409204;ENST00000409186;ENST00000358674	T;T	0.61040	0.14;0.14	5.95	5.95	0.96441	.	0.000000	0.64402	D	0.000004	T	0.65554	0.2702	M	0.65975	2.015	0.80722	D	1	D	0.57257	0.979	P	0.49999	0.628	T	0.66131	-0.6000	10	0.39692	T	0.17	.	16.4116	0.83717	0.0:0.0:0.0:1.0	.	486	A8K1K9	.	G	486;486;232	ENSP00000387250:E486G;ENSP00000386653:E486G	ENSP00000351500:E232G	E	-	2	0	PCDH20	60884776	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.991000	0.88244	2.276000	0.75962	0.528000	0.53228	GAA	.		0.403	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2	NM_022843	
KLF5	688	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	13	73636282	73636282	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr13:73636282C>T	ENST00000377687.4	+	2	1081	c.545C>T	c.(544-546)cCg>cTg	p.P182L	KLF5_ENST00000539231.1_Missense_Mutation_p.P91L|KLF5_ENST00000477333.1_3'UTR	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)	182					angiogenesis (GO:0001525)|cellular response to organic cyclic compound (GO:0071407)|cellular response to peptide (GO:1901653)|intestinal epithelial cell development (GO:0060576)|microvillus assembly (GO:0030033)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of microvillus assembly (GO:0032534)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.P182L(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		CCTCCGGCCCCGACCCAGGCC	0.527																																					p.P182L		.											.	KLF5-155	1	Substitution - Missense(1)	lung(1)	c.C545T						.						65.0	68.0	67.0					13																	73636282		2203	4300	6503	SO:0001583	missense	688	exon2			CGGCCCCGACCCA	D14520	CCDS9448.1, CCDS66562.1	13q21.3	2013-01-08			ENSG00000102554	ENSG00000102554		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6349	protein-coding gene	gene with protein product		602903		BTEB2		8479902, 9973612	Standard	NM_001730		Approved	IKLF, CKLF	uc001vje.3	Q13887	OTTHUMG00000017074	ENST00000377687.4:c.545C>T	13.37:g.73636282C>T	ENSP00000366915:p.Pro182Leu	61	0		77	38	NM_001730	0	0	0	0	0	L0R3U5|L0R4T9|Q9UHP8	Missense_Mutation	SNP	ENST00000377687.4	37	CCDS9448.1	.	.	.	.	.	.	.	.	.	.	C	17.87	3.493978	0.64186	.	.	ENSG00000102554	ENST00000539231;ENST00000377687;ENST00000545883	T;T	0.08102	3.32;3.13	5.94	4.15	0.48705	.	0.218902	0.47852	D	0.000219	T	0.08403	0.0209	L	0.49350	1.555	0.80722	D	1	P	0.44006	0.824	B	0.30495	0.116	T	0.08722	-1.0708	10	0.52906	T	0.07	.	15.1844	0.72989	0.2597:0.7403:0.0:0.0	.	182	Q13887	KLF5_HUMAN	L	91;182;162	ENSP00000440407:P91L;ENSP00000366915:P182L	ENSP00000366915:P182L	P	+	2	0	KLF5	72534283	0.994000	0.37717	0.985000	0.45067	0.980000	0.70556	3.227000	0.51262	0.785000	0.33685	0.561000	0.74099	CCG	.		0.527	KLF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045263.1		
UPF3A	65110	broad.mit.edu	37	13	115047559	115047559	+	Silent	SNP	C	C	T			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr13:115047559C>T	ENST00000375299.3	+	2	327	c.271C>T	c.(271-273)Ctg>Ttg	p.L91L	UPF3A_ENST00000351487.5_Silent_p.L91L	NM_023011.3	NP_075387.1	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A (yeast)	91	Required for interaction with UPF2.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleocytoplasmic transport (GO:0006913)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.L91L(8)		autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		GCTGCGCCCGCTGCCAGCACA	0.731																																					p.L91L		.											.	UPF3A-91	8	Substitution - coding silent(8)	lung(2)|prostate(2)|kidney(2)|central_nervous_system(2)	c.C271T						.						4.0	4.0	4.0					13																	115047559		1902	3804	5706	SO:0001819	synonymous_variant	65110	exon2			CGCCCGCTGCCAG	AF318575	CCDS9543.1, CCDS9544.1	13q34	2010-04-30			ENSG00000169062	ENSG00000169062			20332	protein-coding gene	gene with protein product		605530				11113196, 11163187	Standard	NM_023011		Approved	RENT3A, UPF3, HUPF3A	uc001vup.3	Q9H1J1	OTTHUMG00000017403	ENST00000375299.3:c.271C>T	13.37:g.115047559C>T		21	0		89	11	NM_080687	0	0	16	16	0	A2A366|Q5T8C3|Q5T8C9|Q7Z6N3|Q86YK1|Q9BZI8	Silent	SNP	ENST00000375299.3	37	CCDS9543.1																																																																																			.		0.731	UPF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045968.2		
LRRC16B	90668	broad.mit.edu	37	14	24527404	24527404	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr14:24527404G>C	ENST00000342740.5	+	17	1517	c.1363G>C	c.(1363-1365)Gac>Cac	p.D455H	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	455						cytoplasm (GO:0005737)				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		TCACCTCAGTGACCTGCACCT	0.622											OREG0022615	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.D455H		.											.	LRRC16B-139	0			c.G1363C						.						51.0	43.0	46.0					14																	24527404		2203	4300	6503	SO:0001583	missense	90668	exon17			CTCAGTGACCTGC	AI017934	CCDS32054.1	14q11.2-q12	2010-09-10	2008-02-12	2008-02-12					20272	protein-coding gene	gene with protein product		614716	"""chromosome 14 open reading frame 121"""	C14orf121		19846667	Standard	NM_138360		Approved	BC008134, crml-1, CARMIL3	uc001wlj.2	Q8ND23		ENST00000342740.5:c.1363G>C	14.37:g.24527404G>C	ENSP00000340467:p.Asp455His	195	0	772	200	5	NM_138360	0	0	0	0	0	Q8TEF7|Q96HS9	Missense_Mutation	SNP	ENST00000342740.5	37	CCDS32054.1	.	.	.	.	.	.	.	.	.	.	G	17.01	3.279724	0.59758	.	.	ENSG00000186648	ENST00000342740	T	0.16324	2.35	4.91	4.91	0.64330	.	0.054884	0.64402	D	0.000002	T	0.36303	0.0962	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.04796	-1.0926	10	0.54805	T	0.06	-18.2364	13.6748	0.62447	0.0:0.0:1.0:0.0	.	455	Q8ND23	LR16B_HUMAN	H	455	ENSP00000340467:D455H	ENSP00000340467:D455H	D	+	1	0	LRRC16B	23597244	1.000000	0.71417	0.994000	0.49952	0.988000	0.76386	5.964000	0.70379	2.271000	0.75665	0.456000	0.33151	GAC	.		0.622	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416527.1	NM_138360	
INSM2	84684	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	36004341	36004341	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr14:36004341G>C	ENST00000307169.3	+	1	1094	c.883G>C	c.(883-885)Gag>Cag	p.E295Q		NM_032594.3	NP_115983.3	Q96T92	INSM2_HUMAN	insulinoma-associated 2	295					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	10	Breast(36;0.122)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452)	GBM - Glioblastoma multiforme(112;0.0223)		CCGCTGCCCTGAGTGCGACAA	0.662																																					p.E295Q		.											.	INSM2-226	0			c.G883C						.						35.0	36.0	36.0					14																	36004341		2203	4298	6501	SO:0001583	missense	84684	exon1			TGCCCTGAGTGCG	AF260323	CCDS9657.1	14q13.1	2013-01-08			ENSG00000168348	ENSG00000168348		"""Zinc fingers, C2H2-type"""	17539	protein-coding gene	gene with protein product	"""mlt 1"""	614027					Standard	NM_032594		Approved	IA-6	uc001wth.1	Q96T92	OTTHUMG00000140223	ENST00000307169.3:c.883G>C	14.37:g.36004341G>C	ENSP00000306523:p.Glu295Gln	23	0		92	25	NM_032594	0	0	0	0	0	A1L432|J9Y024|Q8N8K7|Q96Q84	Missense_Mutation	SNP	ENST00000307169.3	37	CCDS9657.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.733933	0.89482	.	.	ENSG00000168348	ENST00000307169	T	0.52057	0.68	4.95	4.95	0.65309	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.32593	N	0.005886	T	0.59032	0.2164	L	0.33245	0.995	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.60301	-0.7290	10	0.48119	T	0.1	-27.5796	16.9569	0.86262	0.0:0.0:1.0:0.0	.	295	Q96T92	INSM2_HUMAN	Q	295	ENSP00000306523:E295Q	ENSP00000306523:E295Q	E	+	1	0	INSM2	35074092	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.362000	0.66098	2.269000	0.75478	0.563000	0.77884	GAG	.		0.662	INSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276686.1		
SLC10A1	6554	broad.mit.edu	37	14	70246042	70246042	+	Silent	SNP	G	G	A			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr14:70246042G>A	ENST00000216540.4	-	3	736	c.603C>T	c.(601-603)gcC>gcT	p.A201A		NM_003049.3	NP_003040.1	Q14973	NTCP_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 1	201					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bile acid:sodium symporter activity (GO:0008508)			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)	14				all cancers(60;0.00228)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0226)	Bumetanide(DB00887)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Ethinyl Estradiol(DB00977)|Indomethacin(DB00328)|Liothyronine(DB00279)|Liotrix(DB01583)|Pitavastatin(DB08860)|Probenecid(DB01032)|Progesterone(DB00396)|Testosterone(DB00624)|Ursodeoxycholic acid(DB01586)	GAACTGTGACGGCCACACTGC	0.488																																					p.A201A		.											.	SLC10A1-91	0			c.C603T						.						139.0	99.0	113.0					14																	70246042		2203	4300	6503	SO:0001819	synonymous_variant	6554	exon3			TGTGACGGCCACA	L21893	CCDS9797.1	14q24.2	2013-07-18	2013-07-18		ENSG00000100652	ENSG00000100652		"""Solute carriers"""	10905	protein-coding gene	gene with protein product		182396				8132774	Standard	NM_003049		Approved	NTCP	uc001xlr.2	Q14973	OTTHUMG00000171236	ENST00000216540.4:c.603C>T	14.37:g.70246042G>A		92	1		89	5	NM_003049	0	0	0	0	0	B9EGB6|Q2TU29	Silent	SNP	ENST00000216540.4	37	CCDS9797.1																																																																																			.		0.488	SLC10A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412464.1		
ELMSAN1	91748	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	14	74191989	74191989	+	Frame_Shift_Del	DEL	G	G	-			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr14:74191989delG	ENST00000286523.5	-	9	3342	c.2560delC	c.(2560-2562)ctgfs	p.L854fs	ELMSAN1_ENST00000394071.2_Frame_Shift_Del_p.L854fs	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1	854	SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										TTCTGCACCAGGAAGAAATCC	0.562																																					p.L854fs		.											.	.	0			c.2560delC						.						152.0	143.0	146.0					14																	74191989		2203	4300	6503	SO:0001589	frameshift_variant	91748	exon9			GCACCAGGAAGAA	BF971739	CCDS9819.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000156030	ENSG00000156030			19853	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 117"", ""chromosome 14 open reading frame 43"""	C14orf117, C14orf43			Standard	NM_194278		Approved	LSR68	uc001xou.3	Q6PJG2	OTTHUMG00000150359	ENST00000286523.5:c.2560delC	14.37:g.74191989delG	ENSP00000286523:p.Leu854fs	111	0		70	57	NM_194278	0	0	0	0	0	Q6PK13|Q6PK59|Q6ZS23	Frame_Shift_Del	DEL	ENST00000286523.5	37	CCDS9819.1																																																																																			.		0.562	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317793.1	NM_194278	
SAMD15	161394	bcgsc.ca	37	14	77845121	77845121	+	Missense_Mutation	SNP	A	A	G	rs2193595	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr14:77845121A>G	ENST00000216471.4	+	1	1646	c.1360A>G	c.(1360-1362)Aaa>Gaa	p.K454E	SAMD15_ENST00000533095.2_Intron|TMED8_ENST00000216468.7_5'Flank	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN	sterile alpha motif domain containing 15	454			K -> E (in dbSNP:rs2193595).					p.K454E(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						ACTAAGTGACAAATTTAGAAA	0.373													G|||	2569	0.512979	0.888	0.4841	5008	,	,		21569	0.0883		0.497	False		,,,				2504	0.4806				p.K454E		.											.	SAMD15-90	1	Substitution - Missense(1)	stomach(1)	c.A1360G						.	G	GLU/LYS	3626,780	313.0+/-292.9	1499,628,76	74.0	73.0	73.0		1360	-2.4	0.0	14	dbSNP_96	73	4023,4577	597.9+/-393.8	955,2113,1232	yes	missense	SAMD15	NM_001010860.1	56	2454,2741,1308	GG,GA,AA		46.7791,17.7031,41.1887	benign	454/675	77845121	7649,5357	2203	4300	6503	SO:0001583	missense	161394	exon1			AGTGACAAATTTA	AK093282	CCDS32126.1	14q24.3	2013-01-10	2010-10-20	2010-10-20	ENSG00000100583	ENSG00000100583		"""Sterile alpha motif (SAM) domain containing"""	18631	protein-coding gene	gene with protein product			"""family with sequence similarity 15, member A"", ""chromosome 14 open reading frame 174"""	FAM15A, C14orf174			Standard	XM_006720069		Approved	FLJ35963	uc001xtq.1	Q9P1V8		ENST00000216471.4:c.1360A>G	14.37:g.77845121A>G	ENSP00000216471:p.Lys454Glu	52	0		48	4	NM_001010860	0	0	0	0	0	Q2M3P3	Missense_Mutation	SNP	ENST00000216471.4	37	CCDS32126.1	1051	0.48122710622710624	436	0.8861788617886179	197	0.5441988950276243	43	0.07517482517482517	375	0.4947229551451187	G	0.019	-1.454591	0.01071	0.822969	0.467791	ENSG00000100583	ENST00000216471	T	0.34275	1.37	2.27	-2.42	0.06542	.	.	.	.	.	T	0.00012	0.0000	N	0.04636	-0.2	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.35500	-0.9786	8	0.02654	T	1	.	3.7904	0.08718	0.4507:0.1975:0.3518:0.0	rs2193595;rs3742735;rs52827749;rs57272414;rs2193595	454	Q9P1V8	SAM15_HUMAN	E	454	ENSP00000216471:K454E	ENSP00000216471:K454E	K	+	1	0	SAMD15	76914874	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.968000	0.03817	-0.675000	0.05246	-0.227000	0.12334	AAA	A|0.451;G|0.549		0.373	SAMD15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394587.2	NM_001010860	
CHGA	1113	bcgsc.ca	37	14	93401178	93401178	+	Silent	SNP	A	A	G	rs941581|rs9658671	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr14:93401178A>G	ENST00000216492.5	+	8	1603	c.1323A>G	c.(1321-1323)gaA>gaG	p.E441E	CHGA_ENST00000334654.4_Silent_p.E290E	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN	chromogranin A (parathyroid secretory protein 1)	441					regulation of blood pressure (GO:0008217)	extracellular region (GO:0005576)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|secretory granule (GO:0030141)				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		CGGCCATTGAAGCAGAGCTGG	0.652													G|||	3983	0.795327	0.7519	0.7363	5008	,	,		18598	0.9554		0.7177	False		,,,				2504	0.8108				p.E441E	Colon(31;154 822 45066 49155)|NSCLC(28;804 1157 13734 25204)	.											.	CHGA-516	0			c.A1323G						.	G		3454,948		1359,736,106	42.0	31.0	34.0		1323	4.4	1.0	14	dbSNP_86	34	6047,2551		2124,1799,376	no	coding-synonymous	CHGA	NM_001275.3		3483,2535,482	GG,GA,AA		29.6697,21.5357,26.9154		441/458	93401178	9501,3499	2201	4299	6500	SO:0001819	synonymous_variant	1113	exon8			CATTGAAGCAGAG		CCDS9906.1	14q32	2012-10-02			ENSG00000100604	ENSG00000100604			1929	protein-coding gene	gene with protein product	"""vasostatin"", ""pancreastatin"", ""parastatin"""	118910				3403545	Standard	NM_001275		Approved		uc001ybc.4	P10645		ENST00000216492.5:c.1323A>G	14.37:g.93401178A>G		169	0		232	9	NM_001275	0	0	0	0	0	B2R9E9|Q53FA8|Q6NR84|Q96E84|Q96GL7|Q9BQB5	Silent	SNP	ENST00000216492.5	37	CCDS9906.1																																																																																			A|0.243;G|0.757		0.652	CHGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412411.1	NM_001275	
CKB	1152	hgsc.bcm.edu	37	14	103988180	103988180	+	Silent	SNP	G	G	T	rs1136165	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr14:103988180G>T	ENST00000348956.2	-	4	813	c.456C>A	c.(454-456)cgC>cgA	p.R152R		NM_001823.4	NP_001814.2	P12277	KCRB_HUMAN	creatine kinase, brain	152	Phosphagen kinase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00843}.				cellular chloride ion homeostasis (GO:0030644)|cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			lung(2)|prostate(1)	3		Melanoma(154;0.155)	Epithelial(46;0.14)		Creatine(DB00148)	TCTCGATGGCGCGGCGCTCCC	0.756													G|||	3294	0.657748	0.5416	0.7349	5008	,	,		7060	0.8264		0.6233	False		,,,				2504	0.6217				p.R152R	Esophageal Squamous(186;2492 2823 49929 50127)	.											.	CKB-115	0			c.C456A						.	G		1738,1164		574,590,287	3.0	4.0	3.0		456	-0.0	1.0	14	dbSNP_86	3	4002,2154		1387,1228,463	no	coding-synonymous	CKB	NM_001823.3		1961,1818,750	TT,TG,GG		34.9903,40.1103,36.6306		152/382	103988180	5740,3318	1451	3078	4529	SO:0001819	synonymous_variant	1152	exon4			GATGGCGCGGCGC		CCDS9981.1	14q32.32	2012-10-02			ENSG00000166165	ENSG00000166165	2.7.3.2		1991	protein-coding gene	gene with protein product		123280		CKBB			Standard	NM_001823		Approved		uc001ynf.2	P12277	OTTHUMG00000171786	ENST00000348956.2:c.456C>A	14.37:g.103988180G>T		0	0		5	5	NM_001823	0	0	29	67	38	A8K236|B2R5R4|Q2LE07|Q6FG40|Q9UC66	Silent	SNP	ENST00000348956.2	37	CCDS9981.1	1462	0.6694139194139194	285	0.5792682926829268	250	0.6906077348066298	460	0.8041958041958042	467	0.6160949868073878	G	13.11	2.138272	0.37728	0.598897	0.650097	ENSG00000166165	ENST00000428256	.	.	.	4.64	-0.0349	0.13894	.	0.000000	0.85682	D	0.000000	T	0.00012	0.0000	.	.	.	0.09310	P	0.9999999999999624	.	.	.	.	.	.	T	0.17592	-1.0364	5	0.41790	T	0.15	-18.9304	4.9837	0.14180	0.3841:0.2745:0.3414:0.0	rs1136165;rs2227867;rs2765044;rs3179077;rs3199393;rs17366340;rs17423634;rs17849441;rs17850309;rs17850603;rs17851735;rs17851741;rs17857802	.	.	.	S	118	.	ENSP00000395515:R118S	R	-	1	0	CKB	103057933	0.001000	0.12720	0.999000	0.59377	0.996000	0.88848	-2.081000	0.01367	0.066000	0.16515	0.449000	0.29647	CGC	G|0.327;T|0.673		0.756	CKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415111.1		
APBA2	321	broad.mit.edu;bcgsc.ca	37	15	29393975	29393975	+	Silent	SNP	C	C	T			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr15:29393975C>T	ENST00000558402.1	+	11	2111	c.1512C>T	c.(1510-1512)ttC>ttT	p.F504F	APBA2_ENST00000411764.1_Silent_p.F492F|APBA2_ENST00000561069.1_Silent_p.F504F|APBA2_ENST00000558259.1_Silent_p.F504F|APBA2_ENST00000558330.1_Silent_p.F492F			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	504	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		GCCATGTGTTCGAGTCGGAGG	0.617																																					p.F504F		.											.	APBA2-90	0			c.C1512T						.						68.0	50.0	56.0					15																	29393975		2203	4299	6502	SO:0001819	synonymous_variant	321	exon9			TGTGTTCGAGTCG	AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"""X11-like"", ""amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"""	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.1512C>T	15.37:g.29393975C>T		146	1		140	6	NM_005503	0	0	0	0	0	E9PGI4|O60571|Q5XKC0	Silent	SNP	ENST00000558402.1	37	CCDS10022.1																																																																																			.		0.617	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3	NM_005503	
MFAP1	4236	broad.mit.edu	37	15	44116740	44116740	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr15:44116740G>T	ENST00000267812.3	-	1	260	c.28C>A	c.(28-30)Caa>Aaa	p.Q10K	WDR76_ENST00000381246.2_5'Flank|WDR76_ENST00000263795.6_5'Flank	NM_005926.2	NP_005917.2	P55081	MFAP1_HUMAN	microfibrillar-associated protein 1	10					extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|microfibril (GO:0001527)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.33e-07)		ATGGGCGGTTGCTTCATGAGA	0.537																																					p.Q10K		.											.	MFAP1-226	0			c.C28A						.						128.0	115.0	119.0					15																	44116740		2198	4298	6496	SO:0001583	missense	4236	exon1			GCGGTTGCTTCAT		CCDS10105.1	15q15-q21	2014-05-20			ENSG00000140259	ENSG00000140259			7032	protein-coding gene	gene with protein product		600215				7835894	Standard	NM_005926		Approved		uc001zth.1	P55081	OTTHUMG00000060145	ENST00000267812.3:c.28C>A	15.37:g.44116740G>T	ENSP00000267812:p.Gln10Lys	183	0		204	6	NM_005926	0	0	5	5	0	Q86TG6	Missense_Mutation	SNP	ENST00000267812.3	37	CCDS10105.1	.	.	.	.	.	.	.	.	.	.	G	12.64	1.998091	0.35226	.	.	ENSG00000140259	ENST00000267812	.	.	.	5.53	5.53	0.82687	.	0.059800	0.64402	D	0.000002	T	0.41119	0.1145	N	0.25144	0.715	0.80722	D	1	B	0.29531	0.247	B	0.23574	0.047	T	0.40175	-0.9577	9	0.02654	T	1	-4.2045	19.0999	0.93269	0.0:0.0:1.0:0.0	.	10	P55081	MFAP1_HUMAN	K	10	.	ENSP00000267812:Q10K	Q	-	1	0	MFAP1	41904032	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	9.026000	0.93700	2.596000	0.87737	0.655000	0.94253	CAA	.		0.537	MFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133491.2	NM_005926	
SPG11	80208	broad.mit.edu	37	15	44858189	44858189	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr15:44858189C>A	ENST00000261866.7	-	38	6878	c.6862G>T	c.(6862-6864)Gcc>Tcc	p.A2288S	SPG11_ENST00000535302.2_Missense_Mutation_p.A2175S|SPG11_ENST00000427534.2_Intron	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	2288					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		CAGTGCTGGGCCTGTCGCACA	0.532																																					p.A2288S		.											.	SPG11-95	0			c.G6862T						.						48.0	42.0	44.0					15																	44858189		2198	4298	6496	SO:0001583	missense	80208	exon38			GCTGGGCCTGTCG		CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.6862G>T	15.37:g.44858189C>A	ENSP00000261866:p.Ala2288Ser	80	1		55	4	NM_025137	0	0	27	27	0	A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	ENST00000261866.7	37	CCDS10112.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.100708	0.76983	.	.	ENSG00000104133	ENST00000261866;ENST00000535302	D;T	0.82893	-1.66;-1.28	5.8	5.8	0.92144	.	0.109103	0.64402	D	0.000008	D	0.87442	0.6178	L	0.53729	1.69	0.80722	D	1	P;D;D	0.71674	0.946;0.998;0.998	P;D;D	0.65443	0.586;0.935;0.935	D	0.85359	0.1106	10	0.33940	T	0.23	.	13.5081	0.61495	0.2727:0.7273:0.0:0.0	.	2175;2288;2288	F5H3N6;C4B7M4;Q96JI7	.;.;SPTCS_HUMAN	S	2288;2175	ENSP00000261866:A2288S;ENSP00000445278:A2175S	ENSP00000261866:A2288S	A	-	1	0	SPG11	42645481	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.252000	0.43196	2.741000	0.93983	0.585000	0.79938	GCC	.		0.532	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1		
ADAMTS7	11173	hgsc.bcm.edu	37	15	79058090	79058090	+	Missense_Mutation	SNP	A	A	G	rs2929158	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr15:79058090A>G	ENST00000388820.4	-	19	4373	c.4163T>C	c.(4162-4164)gTc>gCc	p.V1388A	ADAMTS7_ENST00000566303.1_5'Flank	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1388					cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GGTCTCAGGGACTCTGTGGCT	0.687																																					p.V1388A		.											.	ADAMTS7-226	0			c.T4163C						.						22.0	29.0	26.0					15																	79058090		2166	4248	6414	SO:0001583	missense	11173	exon19			TCAGGGACTCTGT	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.4163T>C	15.37:g.79058090A>G	ENSP00000373472:p.Val1388Ala	14	0		97	6	NM_014272	0	0	30	32	2	Q14F51|Q6P7J9	Missense_Mutation	SNP	ENST00000388820.4	37	CCDS32303.1	249	0.11401098901098901	2	0.0040650406504065045	43	0.11878453038674033	198	0.34615384615384615	6	0.0079155672823219	a	0.637	-0.814774	0.02776	.	.	ENSG00000136378	ENST00000388820	T	0.58506	0.33	3.65	-3.31	0.04988	.	0.591257	0.16562	N	0.209003	T	0.00012	0.0000	N	0.02916	-0.46	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.35724	-0.9777	9	0.15066	T	0.55	.	0.8256	0.01120	0.1904:0.2419:0.3106:0.2571	rs2929158	1388	Q9UKP4	ATS7_HUMAN	A	1388	ENSP00000373472:V1388A	ENSP00000373472:V1388A	V	-	2	0	ADAMTS7	76845145	0.000000	0.05858	0.052000	0.19188	0.008000	0.06430	-1.706000	0.01895	-0.534000	0.06315	-2.103000	0.00360	GTC	A|0.898;G|0.102		0.687	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272	
PDE8A	5151	hgsc.bcm.edu;bcgsc.ca	37	15	85656649	85656650	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	TC	TC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr15:85656649_85656650delTC	ENST00000310298.4	+	14	1408_1409	c.1156_1157delTC	c.(1156-1158)tccfs	p.S386fs	PDE8A_ENST00000339708.5_Frame_Shift_Del_p.S340fs|PDE8A_ENST00000557957.1_Frame_Shift_Del_p.S314fs|PDE8A_ENST00000394553.1_Frame_Shift_Del_p.S386fs			O60658	PDE8A_HUMAN	phosphodiesterase 8A	386					cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|phosphorelay signal transduction system (GO:0000160)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)		Caffeine(DB00201)|Ketotifen(DB00920)	CCGGATACATTCCATGACAATT	0.505																																					p.386_386del		.											.	PDE8A-94	0			c.1156_1157del						.																																			SO:0001589	frameshift_variant	5151	exon13			ATACATTCCATGA	AF056490	CCDS10336.1, CCDS10337.1, CCDS58397.1	15q25.3	2008-05-14			ENSG00000073417	ENSG00000073417	3.1.4.17	"""Phosphodiesterases"""	8793	protein-coding gene	gene with protein product		602972				9618252	Standard	NM_001243137		Approved	HsT19550	uc002blh.3	O60658	OTTHUMG00000148670	ENST00000310298.4:c.1156_1157delTC	15.37:g.85656649_85656650delTC	ENSP00000311453:p.Ser386fs	113	0		156	36	NM_002605	0	0	0	0	0	B3KXE6|H0YMZ7|Q6P9H3|Q969I1|Q96PC9|Q96PD0|Q96PD1|Q96T71|Q9UMB7|Q9UMC3	Frame_Shift_Del	DEL	ENST00000310298.4	37	CCDS10336.1																																																																																			.		0.505	PDE8A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309018.1	NM_002605	
PTX4	390667	hgsc.bcm.edu	37	16	1537601	1537601	+	Missense_Mutation	SNP	A	A	G	rs2667674	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr16:1537601A>G	ENST00000447419.2	-	2	537	c.512T>C	c.(511-513)cTg>cCg	p.L171P	PTX4_ENST00000293922.1_Missense_Mutation_p.L166P|PTX4_ENST00000440447.2_Intron			Q96A99	PTX4_HUMAN	pentraxin 4, long	171						extracellular region (GO:0005576)	metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						CCGCCCCTCCAGAGCAGCCAG	0.731													A|||	341	0.0680911	0.0719	0.0634	5008	,	,		14003	0.0526		0.0875	False		,,,				2504	0.0624				p.L166P		.											.	PTX4-90	0			c.T497C						.	A	PRO/LEU	253,4059		9,235,1912	11.0	14.0	13.0		497	4.0	0.0	16	dbSNP_100	13	771,7671		29,713,3479	no	missense	PTX4	NM_001013658.1	98	38,948,5391	GG,GA,AA		9.1329,5.8673,8.0289	probably-damaging	166/474	1537601	1024,11730	2156	4221	6377	SO:0001583	missense	390667	exon2			CCCTCCAGAGCAG		CCDS32362.1	16p13.3	2011-01-06	2010-03-30	2010-03-30	ENSG00000251692	ENSG00000251692			14171	protein-coding gene	gene with protein product		613442	"""chromosome 16 open reading frame 38"""	C16orf38			Standard	NM_001013658		Approved		uc010uvf.2	Q96A99		ENST00000447419.2:c.512T>C	16.37:g.1537601A>G	ENSP00000445277:p.Leu171Pro	0	0		29	11	NM_001013658	0	0	0	0	0		Missense_Mutation	SNP	ENST00000447419.2	37		158	0.07234432234432235	30	0.06097560975609756	26	0.0718232044198895	28	0.04895104895104895	74	0.09762532981530343	A	11.77	1.737133	0.30774	0.058673	0.091329	ENSG00000251692	ENST00000447419;ENST00000293922	T;T	0.09630	3.08;2.96	5.1	3.99	0.46301	.	0.583371	0.15824	N	0.242871	T	0.00637	0.0021	L	0.52573	1.65	0.37568	P	0.08066399999999996	D	0.89917	1.0	D	0.81914	0.995	T	0.03898	-1.0994	9	0.72032	D	0.01	.	9.5613	0.39371	0.9143:0.0:0.0857:0.0	rs2667674	166	Q96A99-2	.	P	171;166	ENSP00000445277:L171P;ENSP00000293922:L166P	ENSP00000293922:L166P	L	-	2	0	PTX4	1477602	0.001000	0.12720	0.001000	0.08648	0.004000	0.04260	1.062000	0.30555	0.861000	0.35504	0.533000	0.62120	CTG	A|0.928;G|0.072		0.731	PTX4-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000432526.1	NM_001013658	
EME2	197342	hgsc.bcm.edu	37	16	1823444	1823444	+	Silent	SNP	C	C	G	rs761065	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr16:1823444C>G	ENST00000568449.1	+	1	237	c.216C>G	c.(214-216)gtC>gtG	p.V72V	EME2_ENST00000307394.7_Silent_p.V72V|NME3_ENST00000219302.3_5'Flank|NME3_ENST00000563498.1_5'Flank|MRPS34_ENST00000397375.2_5'Flank|MRPS34_ENST00000177742.3_5'Flank	NM_001257370.1	NP_001244299.1	A4GXA9	EME2_HUMAN	essential meiotic structure-specific endonuclease subunit 2	72					DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)			central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						CGGAGCAGGTCCTGAAGCGCC	0.746								Direct reversal of damage;Homologous recombination					C|||	1683	0.336062	0.0915	0.4885	5008	,	,		9781	0.2808		0.5666	False		,,,				2504	0.3783				p.V72V		.											.	EME2-229	0			c.C216G						.	C		457,2833		68,321,1256	4.0	5.0	5.0		216	-5.9	0.0	16	dbSNP_86	5	3986,3362		1200,1586,888	no	coding-synonymous	EME2	NM_001010865.1		1268,1907,2144	GG,GC,CC		45.7539,13.8906,41.7654		72/445	1823444	4443,6195	1645	3674	5319	SO:0001819	synonymous_variant	197342	exon1			GCAGGTCCTGAAG	AK074080	CCDS58404.1	16p13.3	2013-07-03	2013-07-03			ENSG00000197774			27289	protein-coding gene	gene with protein product	"""SLX2 structure-specific endonuclease subunit homolog B (S. cerevisiae)"""	610886	"""essential meiotic endonuclease 1 homolog 2 (S. pombe)"""			12721304	Standard	NM_001257370		Approved	FLJ00151, SLX2B	uc010brw.1	A4GXA9		ENST00000568449.1:c.216C>G	16.37:g.1823444C>G		0	0		9	5	NM_001257370	0	0	0	0	0	Q8TEP2|Q96RY3	Silent	SNP	ENST00000568449.1	37	CCDS58404.1																																																																																			C|0.615;G|0.385		0.746	EME2-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433185.2	NM_001010865	
PKD1	5310	hgsc.bcm.edu	37	16	2156447	2156447	+	Silent	SNP	G	G	A	rs2003782	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr16:2156447G>A	ENST00000262304.4	-	18	7649	c.7441C>T	c.(7441-7443)Ctg>Ttg	p.L2481L	PKD1_ENST00000561991.1_5'Flank|PKD1_ENST00000423118.1_Silent_p.L2481L	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2481	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						ACAGCGCCCAGTGGGAAGAGG	0.716													a|||	1082	0.216054	0.5439	0.1715	5008	,	,		15215	0.0		0.159	False		,,,				2504	0.0859				p.L2481L		.											.	PKD1-91	0			c.C7441T						.		,	1033,1813		192,649,582	3.0	4.0	4.0		7441,7441	0.4	0.0	16	dbSNP_92	4	861,5451		64,733,2359	no	coding-synonymous,coding-synonymous	PKD1	NM_000296.3,NM_001009944.2	,	256,1382,2941	AA,AG,GG		13.6407,36.2966,20.6814	,	2481/4303,2481/4304	2156447	1894,7264	1423	3156	4579	SO:0001819	synonymous_variant	5310	exon18			CGCCCAGTGGGAA	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.7441C>T	16.37:g.2156447G>A		0	0		21	11	NM_000296	0	0	18	21	3	Q15140|Q15141	Silent	SNP	ENST00000262304.4	37	CCDS32369.1																																																																																			G|0.793;A|0.207		0.716	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1		
FLYWCH1	84256	hgsc.bcm.edu	37	16	2980747	2980747	+	Missense_Mutation	SNP	C	C	T	rs201356969	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr16:2980747C>T	ENST00000253928.9	+	4	1067	c.662C>T	c.(661-663)cCg>cTg	p.P221L	FLYWCH1_ENST00000416288.2_Missense_Mutation_p.P220L|FLYWCH1_ENST00000399667.2_Missense_Mutation_p.P221L			Q4VC44	FWCH1_HUMAN	FLYWCH-type zinc finger 1	221						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|lung(3)	4						GGGGTGGGCCCGTGGCAGTGC	0.721													.|||	11	0.00219649	0.0	0.0014	5008	,	,		10944	0.0		0.0099	False		,,,				2504	0.0				p.P220L		.											.	FLYWCH1-22	0			c.C659T						.	C	LEU/PRO,LEU/PRO	3,3477		0,3,1737	4.0	5.0	4.0		659,659	2.0	0.0	16		4	16,7716		0,16,3850	yes	missense,missense	FLYWCH1	NM_020912.1,NM_032296.2	98,98	0,19,5587	TT,TC,CC		0.2069,0.0862,0.1695	probably-damaging,probably-damaging	220/704,220/716	2980747	19,11193	1740	3866	5606	SO:0001583	missense	84256	exon4			TGGGCCCGTGGCA	AL136585	CCDS45390.1	16p13.3	2013-01-10	2007-06-21	2007-06-21	ENSG00000059122	ENSG00000059122		"""Zinc fingers"""	25404	protein-coding gene	gene with protein product						11230166, 10997877	Standard	XM_006720959		Approved	DKFZp761A132	uc002csc.3	Q4VC44		ENST00000253928.9:c.662C>T	16.37:g.2980747C>T	ENSP00000253928:p.Pro221Leu	4	0		42	20	NM_020912	0	0	3	7	4	D3DUA1|Q6ZSQ1|Q8WV62|Q9BQG6|Q9BUS5|Q9HCM0	Missense_Mutation	SNP	ENST00000253928.9	37		.	.	.	.	.	.	.	.	.	.	C	6.182	0.401769	0.11696	8.62E-4	0.002069	ENSG00000059122	ENST00000399667;ENST00000253928;ENST00000416288	.	.	.	3.35	2.02	0.26589	.	.	.	.	.	T	0.36496	0.0969	L	0.27053	0.805	0.09310	N	1	D;D	0.89917	1.0;0.999	D;P	0.74023	0.982;0.744	T	0.21042	-1.0257	8	0.11794	T	0.64	.	4.8772	0.13662	0.0:0.758:0.0:0.242	.	221;220	Q4VC44;Q4VC44-2	FWCH1_HUMAN;.	L	221;221;220	.	ENSP00000253928:P221L	P	+	2	0	FLYWCH1	2920748	0.000000	0.05858	0.007000	0.13788	0.017000	0.09413	0.165000	0.16564	0.669000	0.31146	0.591000	0.81541	CCG	.		0.721	FLYWCH1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000436479.1	NM_032296	
MEFV	4210	hgsc.bcm.edu	37	16	3304573	3304573	+	Silent	SNP	G	G	T	rs224223	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr16:3304573G>T	ENST00000219596.1	-	2	534	c.495C>A	c.(493-495)gcC>gcA	p.A165A	MEFV_ENST00000339854.4_Intron|MEFV_ENST00000536379.1_Intron|MEFV_ENST00000541159.1_Intron	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	165					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)	p.A165A(2)		NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						GGCCCTCCGAGGCCTTCTCTC	0.766													G|||	1935	0.386382	0.528	0.5965	5008	,	,		10896	0.1667		0.4732	False		,,,				2504	0.183				p.A165A		.											.	MEFV-228	2	Substitution - coding silent(2)	prostate(2)	c.C495A						.	G	,	2112,2188		580,952,618	7.0	7.0	7.0		495,	2.9	0.0	16	dbSNP_79	7	3826,4590		964,1898,1346	no	coding-synonymous,intron	MEFV	NM_000243.2,NM_001198536.1	,	1544,2850,1964	TT,TG,GG		45.461,49.1163,46.6971	,	165/782,	3304573	5938,6778	2150	4208	6358	SO:0001819	synonymous_variant	4210	exon2			CTCCGAGGCCTTC	AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"""Tripartite motif containing / Tripartite motif containing"""	6998	protein-coding gene	gene with protein product	"""pyrin"""	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.495C>A	16.37:g.3304573G>T		0	0		16	13	NM_000243	0	0	0	0	0	D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Silent	SNP	ENST00000219596.1	37	CCDS10498.1																																																																																			G|0.570;T|0.430		0.766	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243	
ATXN2L	11273	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	28844676	28844676	+	Splice_Site	SNP	G	G	T			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr16:28844676G>T	ENST00000336783.4	+	14	2122		c.e14+1		ATXN2L_ENST00000382686.4_Splice_Site|ATXN2L_ENST00000340394.8_Splice_Site|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000325215.6_Splice_Site|ATXN2L_ENST00000570200.1_Splice_Site|ATXN2L_ENST00000564304.1_Splice_Site|ATXN2L_ENST00000565845.1_Splice_Site|ATXN2L_ENST00000395547.2_Splice_Site	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like						regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CTGTTGCTGAGTGAGTGGAGC	0.572																																					.		.											.	ATXN2L-92	0			c.1955+1G>T						.						46.0	45.0	46.0					16																	28844676		2197	4300	6497	SO:0001630	splice_region_variant	11273	exon14			TGCTGAGTGAGTG		CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.1955+1G>T	16.37:g.28844676G>T		79	0		89	43	NM_145714	0	0	0	9	9	A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Splice_Site	SNP	ENST00000336783.4	37	CCDS10641.1	.	.	.	.	.	.	.	.	.	.	g	16.74	3.206770	0.58343	.	.	ENSG00000168488	ENST00000340394;ENST00000395547;ENST00000336783;ENST00000382686;ENST00000325215	.	.	.	5.84	5.84	0.93424	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9149	0.92501	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ATXN2L	28752177	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	5.360000	0.66086	2.769000	0.95229	0.563000	0.77884	.	.		0.572	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214139.1	NM_007245	Intron
SEZ6L2	26470	hgsc.bcm.edu	37	16	29908433	29908433	+	Missense_Mutation	SNP	C	C	G	rs11649499	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr16:29908433C>G	ENST00000308713.5	-	3	748	c.221G>C	c.(220-222)cGg>cCg	p.R74P	SEZ6L2_ENST00000346932.5_Missense_Mutation_p.R74P|SEZ6L2_ENST00000562159.1_5'UTR|SEZ6L2_ENST00000350527.3_Intron|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.R30P	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	74	Pro-rich.		R -> P (in dbSNP:rs11649499). {ECO:0000269|PubMed:12975309, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CGTGGGGTCCCGATCAGATCC	0.667													G|||	3761	0.750998	0.9932	0.7464	5008	,	,		9668	0.6052		0.827	False		,,,				2504	0.499				p.R74P		.											.	SEZ6L2-92	0			c.G221C						.	G	,PRO/ARG,,PRO/ARG	4084,194		1951,182,6	7.0	10.0	9.0		,221,,221	2.8	1.0	16	dbSNP_120	9	7159,1331		3016,1127,102	yes	intron,missense,intron,missense	SEZ6L2	NM_001114099.2,NM_001114100.2,NM_012410.3,NM_201575.3	,103,,103	4967,1309,108	GG,GC,CC		15.6773,4.5348,11.9439	,benign,,benign	,74/810,,74/911	29908433	11243,1525	2139	4245	6384	SO:0001583	missense	26470	exon3			GGGTCCCGATCAG	AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"""type I transmembrane receptor (seizure related protein)"""					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.221G>C	16.37:g.29908433C>G	ENSP00000312550:p.Arg74Pro	0	0		8	8	NM_001243332	0	0	0	0	0	B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Missense_Mutation	SNP	ENST00000308713.5	37	CCDS10659.1	1718	0.7866300366300366	484	0.983739837398374	282	0.7790055248618785	322	0.5629370629370629	630	0.8311345646437994	G	0.009	-1.806021	0.00606	0.954652	0.843227	ENSG00000174938	ENST00000308713;ENST00000346932;ENST00000537485	T;T;T	0.45276	0.9;0.9;0.9	5.17	2.85	0.33270	.	0.128667	0.35436	N	0.003211	T	0.00012	0.0000	N	0.03608	-0.345	0.50632	P	1.1099999999997223E-4	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.30621	-0.9972	8	.	.	.	.	7.5026	0.27526	0.1787:0.1431:0.6783:0.0	rs11649499;rs60390109;rs11649499	30;74	F5H293;Q6UXD5	.;SE6L2_HUMAN	P	74;74;30	ENSP00000312550:R74P;ENSP00000319215:R74P;ENSP00000439412:R30P	.	R	-	2	0	SEZ6L2	29815934	0.685000	0.27652	1.000000	0.80357	0.050000	0.14768	0.504000	0.22626	0.600000	0.29862	-0.998000	0.02512	CGG	C|0.218;G|0.782		0.667	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255154.2	NM_012410	
CCDC102A	92922	hgsc.bcm.edu	37	16	57562804	57562804	+	Missense_Mutation	SNP	G	G	A	rs12935069		TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr16:57562804G>A	ENST00000258214.2	-	2	532	c.286C>T	c.(286-288)Cgg>Tgg	p.R96W		NM_033212.3	NP_149989.2	Q96A19	C102A_HUMAN	coiled-coil domain containing 102A	96				R -> W (in Ref. 2; AAH08285/AAH09941). {ECO:0000305}.						endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						TCCGACCACCGGCGCATGGTC	0.731													A|||	5008	1.0	1.0	1.0	5008	,	,		3757	1.0		1.0	False		,,,				2504	1.0				p.R96W		.											.	CCDC102A-91	0			c.C286T						.						8.0	10.0	9.0					16																	57562804		1834	3717	5551	SO:0001583	missense	92922	exon2			ACCACCGGCGCAT	BC008285	CCDS10784.1	16q13	2008-02-05			ENSG00000135736	ENSG00000135736			28097	protein-coding gene	gene with protein product						12477932	Standard	NM_033212		Approved	MGC10992	uc002elw.3	Q96A19	OTTHUMG00000133472	ENST00000258214.2:c.286C>T	16.37:g.57562804G>A	ENSP00000258214:p.Arg96Trp	0	0		7	7	NM_033212	0	0	0	0	0	Q9BT74	Missense_Mutation	SNP	ENST00000258214.2	37	CCDS10784.1	2180	0.9981684981684982	492	1.0	360	0.994475138121547	570	0.9965034965034965	758	1.0	A	10.17	1.277909	0.23307	.	.	ENSG00000135736	ENST00000258214	T	0.37752	1.18	4.82	4.82	0.62117	.	0.000000	0.64402	N	0.000001	T	0.00012	0.0000	N	0.00049	-2.415	0.40217	P	0.022302999999999962	B	0.02656	0.0	B	0.01281	0.0	T	0.44787	-0.9305	9	0.33141	T	0.24	-23.2491	9.5348	0.39216	0.9152:0.0:0.0848:0.0	rs12935069;rs12935069	96	Q96A19	C102A_HUMAN	W	96	ENSP00000258214:R96W	ENSP00000258214:R96W	R	-	1	2	CCDC102A	56120305	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.801000	0.75170	0.698000	0.31739	-0.556000	0.04195	CGG	G|0.001;A|0.999		0.731	CCDC102A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257348.1	NM_033212	
ZFPM1	161882	hgsc.bcm.edu	37	16	88520086	88520086	+	Splice_Site	SNP	C	C	T			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr16:88520086C>T	ENST00000319555.3	+	1	362	c.40C>T	c.(40-42)Cgt>Tgt	p.R14C	ZFPM1_ENST00000569086.1_3'UTR	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	14					atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|cardiac muscle tissue morphogenesis (GO:0055008)|definitive erythrocyte differentiation (GO:0060318)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|mitral valve formation (GO:0003192)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of interleukin-4 biosynthetic process (GO:0045403)|negative regulation of mast cell differentiation (GO:0060377)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract morphogenesis (GO:0003151)|platelet formation (GO:0030220)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|primitive erythrocyte differentiation (GO:0060319)|regulation of chemokine production (GO:0032642)|regulation of definitive erythrocyte differentiation (GO:0010724)|T-helper cell lineage commitment (GO:0002295)|transcriptional activation by promoter-enhancer looping (GO:0071733)|tricuspid valve formation (GO:0003195)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		GCAGATCAAGCGTGAGTCAAA	0.796																																					p.R14C	Pancreas(49;850 1106 29641 32847 38344)	.											.	ZFPM1-90	0			c.C40T						.						8.0	6.0	7.0					16																	88520086		1065	1914	2979	SO:0001630	splice_region_variant	161882	exon1			ATCAAGCGTGAGT	AF488691	CCDS32502.1	16q24.2	2013-01-10	2012-11-27		ENSG00000179588	ENSG00000179588		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	19762	protein-coding gene	gene with protein product		601950	"""zinc finger protein, multitype 1"""				Standard	NM_153813		Approved	FOG1, FOG, ZNF89A, ZC2HC11A	uc002fkv.3	Q8IX07	OTTHUMG00000173152	ENST00000319555.3:c.40+1C>T	16.37:g.88520086C>T		0	0		8	4	NM_153813	0	0	0	0	0		Missense_Mutation	SNP	ENST00000319555.3	37	CCDS32502.1	.	.	.	.	.	.	.	.	.	.	C	11.06	1.527576	0.27299	.	.	ENSG00000179588	ENST00000319555	T	0.11169	2.8	2.56	1.54	0.23209	.	3.210850	0.03429	U	0.207502	T	0.12050	0.0293	L	0.43923	1.385	0.45528	D	0.998483	B	0.21071	0.051	B	0.08055	0.003	T	0.30966	-0.9960	10	0.87932	D	0	.	7.7286	0.28773	0.0:0.8593:0.0:0.1407	.	14	Q8IX07	FOG1_HUMAN	C	14	ENSP00000326630:R14C	ENSP00000326630:R14C	R	+	1	0	ZFPM1	87047587	1.000000	0.71417	1.000000	0.80357	0.254000	0.26022	1.434000	0.34958	1.186000	0.42985	0.064000	0.15345	CGT	.		0.796	ZFPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422270.2		Missense_Mutation
C17orf97	400566	hgsc.bcm.edu	37	17	260182	260182	+	Silent	SNP	T	T	C	rs7502594	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr17:260182T>C	ENST00000571106.1	+	1	55	c.49T>C	c.(49-51)Tta>Cta	p.L17L	C17orf97_ENST00000360127.6_Silent_p.L17L|AC108004.3_ENST00000599026.1_RNA|AC108004.3_ENST00000466740.2_RNA			Q6ZQX7	CQ097_HUMAN	chromosome 17 open reading frame 97	17										breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						GAGTCGCCGATTAGTCGGCAT	0.751													c|||	1929	0.385184	0.6286	0.2666	5008	,	,		13427	0.3125		0.2396	False		,,,				2504	0.365				p.L17L		.											.	C17orf97-91	0			c.T49C						.			1512,2124		272,968,578	3.0	4.0	4.0		49	2.9	0.0	17	dbSNP_116	4	1503,5991		176,1151,2420	no	coding-synonymous	C17orf97	NM_001013672.4		448,2119,2998	CC,CT,TT		20.056,41.5842,27.0889		17/424	260182	3015,8115	1818	3747	5565	SO:0001819	synonymous_variant	400566	exon1			CGCCGATTAGTCG	AK128660, BC057385	CCDS32519.2	17p13.3	2008-08-15			ENSG00000187624	ENSG00000187624			33800	protein-coding gene	gene with protein product						12477932	Standard	NM_001013672		Approved	LOC400566	uc021tna.1	Q6ZQX7	OTTHUMG00000132479	ENST00000571106.1:c.49T>C	17.37:g.260182T>C		0	0		10	7	NM_001013672	0	0	0	0	0	A5D8T6|Q6NSI2|Q6PFW9	Silent	SNP	ENST00000571106.1	37																																																																																				T|0.657;C|0.343		0.751	C17orf97-003	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000436874.1	NM_001013672	
SMYD4	114826	bcgsc.ca	37	17	1684605	1684605	+	Missense_Mutation	SNP	G	G	T	rs58337165	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr17:1684605G>T	ENST00000305513.7	-	11	2557	c.2390C>A	c.(2389-2391)cCc>cAc	p.P797H		NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	797							metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)	p.P797H(1)		breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						TACAGGGGTGGGTGGTAAGTC	0.507													G|||	684	0.136581	0.2632	0.1369	5008	,	,		18163	0.128		0.0368	False		,,,				2504	0.0767				p.P797H		.											.	SMYD4-230	1	Substitution - Missense(1)	ovary(1)	c.C2390A						.	G	HIS/PRO	998,3408	373.7+/-320.9	114,770,1319	99.0	92.0	94.0		2390	3.3	0.0	17	dbSNP_129	94	415,8185	128.5+/-186.7	10,395,3895	yes	missense	SMYD4	NM_052928.2	77	124,1165,5214	TT,TG,GG		4.8256,22.6509,10.8642	possibly-damaging	797/805	1684605	1413,11593	2203	4300	6503	SO:0001583	missense	114826	exon11			GGGGTGGGTGGTA	AB067523	CCDS11013.1	17p13.3	2004-04-21			ENSG00000186532	ENSG00000186532		"""Zinc fingers, MYND-type"""	21067	protein-coding gene	gene with protein product						11572484	Standard	NM_052928		Approved	KIAA1936, ZMYND21	uc002ftm.4	Q8IYR2	OTTHUMG00000090570	ENST00000305513.7:c.2390C>A	17.37:g.1684605G>T	ENSP00000304360:p.Pro797His	155	0		122	6	NM_052928	0	0	0	0	0	Q8N1P2|Q8NAT0|Q96LV4|Q96PV2	Missense_Mutation	SNP	ENST00000305513.7	37	CCDS11013.1	318	0.14560439560439561	155	0.3150406504065041	43	0.11878453038674033	96	0.16783216783216784	24	0.0316622691292876	G	14.46	2.541339	0.45280	0.226509	0.048256	ENSG00000186532	ENST00000305513	T	0.09723	2.95	5.41	3.28	0.37604	.	0.827129	0.11012	N	0.609411	T	0.00012	0.0000	M	0.70595	2.14	0.80722	P	0.0	D	0.69078	0.997	P	0.55667	0.781	T	0.42882	-0.9425	9	0.35671	T	0.21	-3.4871	4.658	0.12628	0.0875:0.2249:0.5517:0.1359	rs58337165;rs61753097	797	Q8IYR2	SMYD4_HUMAN	H	797	ENSP00000304360:P797H	ENSP00000304360:P797H	P	-	2	0	SMYD4	1631355	0.001000	0.12720	0.003000	0.11579	0.061000	0.15899	0.860000	0.27871	1.383000	0.46405	0.561000	0.74099	CCC	G|0.880;T|0.120		0.507	SMYD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207108.4	XM_056082	
HIC1	3090	hgsc.bcm.edu	37	17	1960974	1960974	+	Silent	SNP	C	C	T	rs77393586	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr17:1960974C>T	ENST00000322941.3	+	2	1047	c.1047C>T	c.(1045-1047)cgC>cgT	p.R349R	HIC1_ENST00000399849.3_Silent_p.R330R|SMG6_ENST00000573166.1_5'Flank	NM_001098202.1	NP_001091672.1	Q14526	HIC1_HUMAN	hypermethylated in cancer 1	349					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|lung(1)|prostate(1)	3				READ - Rectum adenocarcinoma(1115;0.236)		GCCGGGAGCGCGGCTCCCCCA	0.776													c|||	720	0.14377	0.2057	0.2824	5008	,	,		6818	0.0496		0.1272	False		,,,				2504	0.0757				p.R349R		.											.	HIC1-135	0			c.C1047T						.		,	305,2047		12,281,883	2.0	3.0	3.0		1047,990	-0.8	0.9	17	dbSNP_131	3	660,5334		34,592,2371	no	coding-synonymous,coding-synonymous	HIC1	NM_001098202.1,NM_006497.3	,	46,873,3254	TT,TC,CC		11.011,12.9677,11.5624	,	349/734,330/715	1960974	965,7381	1176	2997	4173	SO:0001819	synonymous_variant	3090	exon2			GGAGCGCGGCTCC		CCDS42229.1, CCDS42230.1	17p13.3	2013-01-09				ENSG00000177374		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	4909	protein-coding gene	gene with protein product		603825					Standard	NM_006497		Approved	ZBTB29, ZNF901	uc010cjy.3	Q14526		ENST00000322941.3:c.1047C>T	17.37:g.1960974C>T		0	0		10	5	NM_001098202	0	0	0	0	0	D3DTI4	Silent	SNP	ENST00000322941.3	37	CCDS42229.1																																																																																			C|0.839;T|0.161		0.776	HIC1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438878.1	NM_006497	
OR1D5	8386	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	2966182	2966182	+	Silent	SNP	G	G	T			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr17:2966182G>T	ENST00000575751.1	-	1	719	c.720C>A	c.(718-720)acC>acA	p.T240T		NM_014566.1	NP_055381.1	P58170	OR1D5_HUMAN	olfactory receptor, family 1, subfamily D, member 5	240					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|lung(10)	11						GGGAGGCACAGGTAGAGAAGG	0.502																																					p.T240T		.											.	.	0			c.C720A						.						85.0	97.0	93.0					17																	2966182		2194	4298	6492	SO:0001819	synonymous_variant	8386	exon1			GGCACAGGTAGAG	AF087923	CCDS58499.1	17p13.3	2012-10-09			ENSG00000262628	ENSG00000262628		"""GPCR / Class A : Olfactory receptors"""	8186	protein-coding gene	gene with protein product						10673334	Standard	NM_014566		Approved	OR17-31	uc021tns.1	P58170	OTTHUMG00000177676	ENST00000575751.1:c.720C>A	17.37:g.2966182G>T		615	0		684	268	NM_014566	0	0	0	0	0	Q96RA6	Silent	SNP	ENST00000575751.1	37	CCDS58499.1																																																																																			.		0.502	OR1D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438410.2	NM_014566	
GSG2	83903	broad.mit.edu	37	17	3629267	3629267	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr17:3629267G>T	ENST00000325418.4	+	1	2057	c.2038G>T	c.(2038-2040)Ggg>Tgg	p.G680W	ITGAE_ENST00000571185.1_Intron|ITGAE_ENST00000263087.4_Intron	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)	680	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.				histone H3-T3 phosphorylation involved in chromosome passenger complex localization to kinetochore (GO:2000751)|intracellular signal transduction (GO:0035556)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|protein localization to chromosome, centromeric region (GO:0071459)|protein phosphorylation (GO:0006468)|regulation of spindle checkpoint (GO:0090231)	centrosome (GO:0005813)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|histone kinase activity (H3-T3 specific) (GO:0072354)|protein kinase activity (GO:0004672)										CCCCAGCTGTGGGTTGCAAGT	0.517																																					p.G680W		.											.	GSG2-297	0			c.G2038T						.						135.0	117.0	123.0					17																	3629267		2203	4300	6503	SO:0001583	missense	83903	exon1			AGCTGTGGGTTGC	AB039834	CCDS11036.1	17p13	2005-01-19			ENSG00000177602	ENSG00000177602			19682	protein-coding gene	gene with protein product		609240					Standard	NM_031965		Approved	haspin	uc002fwp.3	Q8TF76	OTTHUMG00000090703	ENST00000325418.4:c.2038G>T	17.37:g.3629267G>T	ENSP00000325290:p.Gly680Trp	55	0		82	3	NM_031965	0	0	1	1	0	Q5U5K3|Q96MN1|Q9BXS7	Missense_Mutation	SNP	ENST00000325418.4	37	CCDS11036.1	.	.	.	.	.	.	.	.	.	.	G	11.04	1.521367	0.27211	.	.	ENSG00000177602	ENST00000325418	T	0.13196	2.61	4.6	4.6	0.57074	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000002	T	0.47135	0.1429	M	0.92604	3.325	0.49915	D	0.999838	D	0.89917	1.0	D	0.97110	1.0	T	0.60120	-0.7325	10	0.87932	D	0	-22.1587	15.4291	0.75077	0.0:0.0:1.0:0.0	.	680	Q8TF76	HASP_HUMAN	W	680	ENSP00000325290:G680W	ENSP00000325290:G680W	G	+	1	0	GSG2	3576016	1.000000	0.71417	0.102000	0.21198	0.009000	0.06853	5.464000	0.66719	2.507000	0.84556	0.655000	0.94253	GGG	.		0.517	GSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207391.1	NM_031965	
ATPAF2	91647	broad.mit.edu	37	17	17942265	17942265	+	Silent	SNP	A	A	C			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr17:17942265A>C	ENST00000474627.3	-	1	217	c.63T>G	c.(61-63)ggT>ggG	p.G21G	GID4_ENST00000376345.3_5'Flank|ATPAF2_ENST00000585101.1_Silent_p.G21G|GID4_ENST00000268719.4_5'Flank	NM_145691.3	NP_663729.1	Q8N5M1	ATPF2_HUMAN	ATP synthase mitochondrial F1 complex assembly factor 2	21					proton-transporting ATP synthase complex assembly (GO:0043461)	mitochondrion (GO:0005739)|nuclear speck (GO:0016607)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	8	all_neural(463;0.228)					CGCTGGGGCCACCCGCCGGCC	0.672																																					p.G21G		.											.	ATPAF2-90	0			c.T63G						.						13.0	16.0	15.0					17																	17942265		2197	4293	6490	SO:0001819	synonymous_variant	91647	exon1			GGGGCCACCCGCC	AF052185	CCDS32585.1	17p11.2	2012-10-12			ENSG00000171953	ENSG00000171953		"""Mitochondrial respiratory chain complex assembly factors"""	18802	protein-coding gene	gene with protein product		608918				11410595, 11997338	Standard	NM_145691		Approved	Atp12p, ATP12, LP3663, MGC29736	uc002gse.1	Q8N5M1	OTTHUMG00000059354	ENST00000474627.3:c.63T>G	17.37:g.17942265A>C		42	12		103	29	NM_145691	0	0	1	2	1	A6NDE5|A8K2J2|Q6XYC7	Silent	SNP	ENST00000474627.3	37	CCDS32585.1																																																																																			.		0.672	ATPAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131934.3	NM_145691	
KRTAP4-7	100132476	bcgsc.ca	37	17	39240737	39240737	+	Missense_Mutation	SNP	C	C	G	rs201389180		TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr17:39240737C>G	ENST00000391417.4	+	1	279	c.279C>G	c.(277-279)agC>agG	p.S93R		NM_033061.3	NP_149050.3	Q9BYR0	KRA47_HUMAN	keratin associated protein 4-7	118	31 X 5 AA repeats of C-C-[GIKRQVHEML]- [SPTRV]-[STVQRCP].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						gtatgtccagctgctgcaagc	0.687																																					p.S93R		.											.	.	0			c.C279G						.						10.0	16.0	14.0					17																	39240737		683	1573	2256	SO:0001583	missense	100132476	exon1			GTCCAGCTGCTGC	AJ406939	CCDS45673.1	17q21.2	2013-06-25			ENSG00000240871	ENSG00000240871		"""Keratin associated proteins"""	18898	protein-coding gene	gene with protein product						11279113	Standard	NM_033061		Approved	KAP4.7	uc010wfn.2	Q9BYR0	OTTHUMG00000133582	ENST00000391417.4:c.279C>G	17.37:g.39240737C>G	ENSP00000375236:p.Ser93Arg	31	0		122	37	NM_033061	0	0	0	0	0	A0AVM6|A8MQ08|A8MTL4	Missense_Mutation	SNP	ENST00000391417.4	37	CCDS45673.1	.	.	.	.	.	.	.	.	.	.	.	14.06	2.421314	0.42918	.	.	ENSG00000240871;ENSG00000212722	ENST00000391417;ENST00000377734	T	0.00642	6.02	3.69	3.69	0.42338	.	.	.	.	.	T	0.01627	0.0052	.	.	.	0.35803	D	0.823278	D	0.53462	0.96	P	0.54815	0.761	T	0.60722	-0.7207	8	0.62326	D	0.03	.	8.833	0.35096	0.2248:0.7752:0.0:0.0	.	93	Q9BYR0	KRA47_HUMAN	R	93;84	ENSP00000375236:S93R	ENSP00000375236:S93R	S	+	3	2	KRTAP4-9;KRTAP4-7	36494263	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	3.745000	0.55119	1.738000	0.51689	0.305000	0.20034	AGC	.		0.687	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257686.1		
KRTAP4-7	100132476	bcgsc.ca	37	17	39240745	39240745	+	Missense_Mutation	SNP	A	A	G	rs199744933		TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr17:39240745A>G	ENST00000391417.4	+	1	287	c.287A>G	c.(286-288)aAg>aGg	p.K96R		NM_033061.3	NP_149050.3	Q9BYR0	KRA47_HUMAN	keratin associated protein 4-7	121	31 X 5 AA repeats of C-C-[GIKRQVHEML]- [SPTRV]-[STVQRCP].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						agctgctgcaagccccagtgc	0.682																																					p.K96R		.											.	.	0			c.A287G						.						9.0	15.0	13.0					17																	39240745		684	1562	2246	SO:0001583	missense	100132476	exon1			GCTGCAAGCCCCA	AJ406939	CCDS45673.1	17q21.2	2013-06-25			ENSG00000240871	ENSG00000240871		"""Keratin associated proteins"""	18898	protein-coding gene	gene with protein product						11279113	Standard	NM_033061		Approved	KAP4.7	uc010wfn.2	Q9BYR0	OTTHUMG00000133582	ENST00000391417.4:c.287A>G	17.37:g.39240745A>G	ENSP00000375236:p.Lys96Arg	28	1		119	41	NM_033061	0	0	0	0	0	A0AVM6|A8MQ08|A8MTL4	Missense_Mutation	SNP	ENST00000391417.4	37	CCDS45673.1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.517953	0.00151	.	.	ENSG00000240871;ENSG00000212722	ENST00000391417;ENST00000377734	T	0.00576	6.45	3.54	-2.1	0.07210	.	2.018020	0.03642	N	0.239726	T	0.00300	0.0009	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40459	-0.9562	9	0.02654	T	1	.	4.8381	0.13474	0.449:0.158:0.393:0.0	.	96	Q9BYR0	KRA47_HUMAN	R	96;87	ENSP00000375236:K96R	ENSP00000375236:K96R	K	+	2	0	KRTAP4-9;KRTAP4-7	36494271	0.000000	0.05858	0.003000	0.11579	0.031000	0.12232	0.058000	0.14301	-0.272000	0.09259	-1.349000	0.01238	AAG	.		0.682	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257686.1		
NPTX1	4884	hgsc.bcm.edu	37	17	78449948	78449948	+	Missense_Mutation	SNP	C	C	T	rs144443274	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr17:78449948C>T	ENST00000306773.4	-	1	456	c.299G>A	c.(298-300)gGc>gAc	p.G100D	NPTX1_ENST00000575212.1_Intron	NM_002522.3	NP_002513.2	Q15818	NPTX1_HUMAN	neuronal pentraxin I	100					axonogenesis involved in innervation (GO:0060385)|cellular response to glucose stimulus (GO:0071333)|cellular response to potassium ion (GO:0035865)|central nervous system development (GO:0007417)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial transport (GO:0006839)|synaptic transmission (GO:0007268)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)	11	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)			ccgggcctcgccggcTCCGGG	0.721													C|||	393	0.0784744	0.0091	0.098	5008	,	,		6949	0.0238		0.173	False		,,,				2504	0.1176				p.G100D		.											.	NPTX1-90	0			c.G299A						.	C	ASP/GLY	146,4108		4,138,1985	11.0	15.0	14.0		299	2.1	1.0	17	dbSNP_134	14	1445,6809		128,1189,2810	no	missense	NPTX1	NM_002522.3	94	132,1327,4795	TT,TC,CC		17.5067,3.4321,12.7199	benign	100/433	78449948	1591,10917	2127	4127	6254	SO:0001583	missense	4884	exon1			GCCTCGCCGGCTC	U61849	CCDS32762.1	17q25.3	2008-05-14				ENSG00000171246			7952	protein-coding gene	gene with protein product		602367				8884281	Standard	NM_002522		Approved		uc002jyp.1	Q15818		ENST00000306773.4:c.299G>A	17.37:g.78449948C>T	ENSP00000307549:p.Gly100Asp	0	0		6	4	NM_002522	0	0	0	1	1	B3KXH3|Q5FWE6	Missense_Mutation	SNP	ENST00000306773.4	37	CCDS32762.1	196	0.08974358974358974	6	0.012195121951219513	42	0.11602209944751381	10	0.017482517482517484	138	0.1820580474934037	C	14.35	2.508706	0.44660	0.034321	0.175067	ENSG00000171246	ENST00000306773	T	0.10382	2.88	3.44	2.11	0.27256	.	0.738536	0.13049	N	0.417861	T	0.00012	0.0000	N	0.14661	0.345	0.34958	P	0.24807100000000004	P	0.43287	0.802	B	0.35413	0.202	T	0.37174	-0.9717	9	0.15066	T	0.55	-13.6643	4.112	0.10063	0.0:0.5355:0.2155:0.249	.	100	Q15818	NPTX1_HUMAN	D	100	ENSP00000307549:G100D	ENSP00000307549:G100D	G	-	2	0	NPTX1	76064543	0.996000	0.38824	0.994000	0.49952	0.971000	0.66376	1.864000	0.39469	1.482000	0.48325	0.484000	0.47621	GGC	C|0.910;T|0.090		0.721	NPTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438051.1		
POLI	11201	broad.mit.edu	37	18	51795958	51795960	+	In_Frame_Del	DEL	CGA	CGA	-	rs78943519|rs10584411|rs3729509	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr18:51795958_51795960delCGA	ENST00000579534.1	+	1	185_187	c.42_44delCGA	c.(40-45)ggcgac>ggc	p.D17del	POLI_ENST00000217800.5_5'Flank|POLI_ENST00000406285.3_In_Frame_Del_p.D17del|POLI_ENST00000579434.1_5'UTR	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	17					DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)	intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)	p.D17delD(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		AAGGCGGCGGCGACGACGACGAG	0.729								DNA polymerases (catalytic subunits)						3926	0.783946	0.9705	0.6427	5008	,	,		12312	0.7054		0.7078	False		,,,				2504	0.7914				p.14_15del		.											.	POLI-229	1	Deletion - In frame(1)	large_intestine(1)	c.42_44del						.			3523,343		1644,235,54						1.5	0.0		dbSNP_119	14	5235,2405		1985,1265,570	no	coding	POLI	NM_007195.2		3629,1500,624	A1A1,A1R,RR		31.4791,8.8722,23.8832				8758,2748				SO:0001651	inframe_deletion	11201	exon1			CGGCGGCGACGAC		CCDS11954.2	18q21.1	2012-05-18			ENSG00000101751	ENSG00000101751		"""DNA polymerases"""	9182	protein-coding gene	gene with protein product		605252		RAD3OB, RAD30B		17609217	Standard	NM_007195		Approved		uc002lfj.4	Q9UNA4	OTTHUMG00000132704	ENST00000579534.1:c.42_44delCGA	18.37:g.51795967_51795969delCGA	ENSP00000462664:p.Asp17del	8	0		92	34	NM_007195	0	0	0	0	0	Q8N590|Q9H0S1|Q9NYH6	In_Frame_Del	DEL	ENST00000579534.1	37	CCDS11954.2																																																																																			.		0.729	POLI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256002.3	NM_007195	
R3HDM4	91300	bcgsc.ca	37	19	899444	899444	+	Silent	SNP	C	C	T	rs2965284	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr19:899444C>T	ENST00000361574.5	-	7	772	c.699G>A	c.(697-699)tcG>tcA	p.S233S	R3HDM4_ENST00000587975.1_Silent_p.S212S	NM_138774.3	NP_620129.2	Q96D70	R3HD4_HUMAN	R3H domain containing 4	233	R3H. {ECO:0000255|PROSITE- ProRule:PRU00382}.					nucleus (GO:0005634)	nucleic acid binding (GO:0003676)										ACTTACTGGCCGAGATGAGGT	0.657													C|||	408	0.0814696	0.0159	0.1081	5008	,	,		12934	0.0109		0.1809	False		,,,				2504	0.1217				p.S233S		.											.	.	0			c.G699A						.	C		177,4229	114.6+/-152.6	5,167,2031	46.0	47.0	47.0		699	-7.7	1.0	19	dbSNP_101	47	1656,6944	300.6+/-305.0	170,1316,2814	no	coding-synonymous	C19orf22	NM_138774.3		175,1483,4845	TT,TC,CC		19.2558,4.0172,14.0935		233/269	899444	1833,11173	2203	4300	6503	SO:0001819	synonymous_variant	91300	exon7			ACTGGCCGAGATG	BC012775	CCDS12048.1	19p13.3	2011-11-23	2011-11-23	2011-11-23	ENSG00000198858	ENSG00000198858			28270	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 22"""	C19orf22		12477932	Standard	NM_138774		Approved	MGC16353	uc002lqg.2	Q96D70		ENST00000361574.5:c.699G>A	19.37:g.899444C>T		102	0		145	6	NM_138774	0	0	3	3	0		Silent	SNP	ENST00000361574.5	37	CCDS12048.1																																																																																			C|0.877;T|0.123		0.657	R3HDM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458209.1	NM_138774	
MYO1F	4542	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	8595175	8595175	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr19:8595175C>A	ENST00000338257.8	-	21	2500	c.2233G>T	c.(2233-2235)Ggg>Tgg	p.G745W		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	745	Myosin tail. {ECO:0000255}.				defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						TCCTCCAGCCCCAGGTAGTCC	0.632																																					p.G745W		.											.	MYO1F-93	0			c.G2233T						.						145.0	155.0	152.0					19																	8595175		2082	4184	6266	SO:0001583	missense	4542	exon21			CCAGCCCCAGGTA	X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"""Myosins / Myosin superfamily : Class I"""	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.2233G>T	19.37:g.8595175C>A	ENSP00000344871:p.Gly745Trp	144	0		167	38	NM_012335	0	0	0	0	0	Q8WWN7	Missense_Mutation	SNP	ENST00000338257.8	37	CCDS42494.1	.	.	.	.	.	.	.	.	.	.	C	31	5.065373	0.93898	.	.	ENSG00000142347	ENST00000305795;ENST00000338257	T	0.38722	1.12	5.58	5.58	0.84498	Myosin tail 2 (1);	0.000000	0.85682	D	0.000000	T	0.75517	0.3860	H	0.94423	3.535	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82602	-0.0376	10	0.87932	D	0	.	18.61	0.91281	0.0:1.0:0.0:0.0	.	745	O00160	MYO1F_HUMAN	W	790;745	ENSP00000344871:G745W	ENSP00000304899:G790W	G	-	1	0	MYO1F	8501175	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.772000	0.85439	2.647000	0.89833	0.555000	0.69702	GGG	.		0.632	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2		
RLN3	117579	bcgsc.ca	37	19	14141666	14141666	+	Missense_Mutation	SNP	G	G	T	rs78161395	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr19:14141666G>T	ENST00000431365.2	+	2	392	c.335G>T	c.(334-336)gGg>gTg	p.G112V	CTB-55O6.4_ENST00000590528.1_RNA|IL27RA_ENST00000263379.2_5'Flank|RLN3_ENST00000585987.1_3'UTR	NM_080864.2	NP_543140.1	Q8WXF3	REL3_HUMAN	relaxin 3	112						extracellular region (GO:0005576)				endometrium(1)|lung(4)	5						GGAACCCCTGGGGTTCTTCGG	0.612													G|||	951	0.189896	0.0469	0.17	5008	,	,		17645	0.2946		0.1511	False		,,,				2504	0.3292				p.G112V		.											.	RLN3-90	0			c.G335T						.	G	VAL/GLY	355,4051	171.2+/-201.5	9,337,1857	44.0	49.0	47.0		335	1.2	0.0	19	dbSNP_131	47	1282,7318	241.0+/-271.5	88,1106,3106	yes	missense	RLN3	NM_080864.2	109	97,1443,4963	TT,TG,GG		14.907,8.0572,12.5865	possibly-damaging	112/143	14141666	1637,11369	2203	4300	6503	SO:0001583	missense	117579	exon2			CCCCTGGGGTTCT	AF447451	CCDS12302.1	19p13.2	2013-02-26	2004-11-15					"""Endogenous ligands"""	17135	protein-coding gene	gene with protein product	"""prorelaxin H3"""	606855	"""relaxin 3 (H3)"""				Standard	NM_080864		Approved	ZINS4, RXN3, H3	uc002mxw.1	Q8WXF3		ENST00000431365.2:c.335G>T	19.37:g.14141666G>T	ENSP00000397415:p.Gly112Val	80	0		104	5	NM_080864	0	0	0	0	0	Q6UXW5	Missense_Mutation	SNP	ENST00000431365.2	37	CCDS12302.1	368	0.1684981684981685	23	0.046747967479674794	48	0.13259668508287292	174	0.3041958041958042	123	0.16226912928759896	G	11.28	1.591005	0.28357	0.080572	0.14907	ENSG00000171136	ENST00000431365	T	0.39056	1.1	4.62	1.21	0.21127	Insulin-like (3);	0.908383	0.09740	N	0.761990	T	0.00012	0.0000	L	0.46947	1.48	0.54753	P	1.3000000000040757E-5	B	0.13145	0.007	B	0.16289	0.015	T	0.25467	-1.0131	9	0.45353	T	0.12	-7.3272	6.2509	0.20845	0.1664:0.0:0.6851:0.1485	.	112	Q8WXF3	REL3_HUMAN	V	112	ENSP00000397415:G112V	ENSP00000397415:G112V	G	+	2	0	RLN3	14002666	0.009000	0.17119	0.004000	0.12327	0.003000	0.03518	0.842000	0.27627	0.059000	0.16252	-1.531000	0.00922	GGG	G|0.865;T|0.135		0.612	RLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458529.1		
OR7A10	390892	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	14951843	14951843	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr19:14951843G>T	ENST00000248058.1	-	1	846	c.847C>A	c.(847-849)Ccc>Acc	p.P283T		NM_001005190.1	NP_001005190.1	O76100	OR7AA_HUMAN	olfactory receptor, family 7, subfamily A, member 10	283						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1)	19	Ovarian(108;0.203)					TTCAGCATGGGGGTGACCACA	0.443																																					p.P283T		.											.	OR7A10-68	0			c.C847A						.						90.0	87.0	88.0					19																	14951843		2203	4300	6503	SO:0001583	missense	390892	exon1			GCATGGGGGTGAC		CCDS32936.1	19p13.1	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	8356	protein-coding gene	gene with protein product							Standard	NM_001005190		Approved		uc002mzx.1	O76100		ENST00000248058.1:c.847C>A	19.37:g.14951843G>T	ENSP00000248058:p.Pro283Thr	92	0		140	66	NM_001005190	0	0	0	0	0	Q6IFP0|Q96R97	Missense_Mutation	SNP	ENST00000248058.1	37	CCDS32936.1	.	.	.	.	.	.	.	.	.	.	g	13.71	2.318716	0.41096	.	.	ENSG00000127515	ENST00000248058	T	0.00344	8.02	2.75	2.75	0.32379	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38837	U	0.001549	T	0.01421	0.0046	H	0.98646	4.29	0.28120	N	0.930641	D	0.76494	0.999	D	0.83275	0.996	T	0.06826	-1.0805	10	0.72032	D	0.01	.	11.4206	0.49978	0.0:0.0:1.0:0.0	.	283	O76100	OR7AA_HUMAN	T	283	ENSP00000248058:P283T	ENSP00000248058:P283T	P	-	1	0	OR7A10	14812843	1.000000	0.71417	0.994000	0.49952	0.508000	0.34012	4.701000	0.61810	1.590000	0.49995	0.134000	0.15878	CCC	.		0.443	OR7A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466520.1	NM_001005190	
SLC27A1	376497	hgsc.bcm.edu	37	19	17597661	17597661	+	Missense_Mutation	SNP	A	A	T	rs61743602	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr19:17597661A>T	ENST00000252595.7	+	2	554	c.457A>T	c.(457-459)Atg>Ttg	p.M153L	CTD-3131K8.2_ENST00000596643.1_lincRNA|SLC27A1_ENST00000442725.1_Missense_Mutation_p.M153L|SLC27A1_ENST00000598424.1_De_novo_Start_OutOfFrame	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	153					adiponectin-activated signaling pathway (GO:0033211)|cardiolipin biosynthetic process (GO:0032049)|cellular lipid metabolic process (GO:0044255)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|negative regulation of phospholipid biosynthetic process (GO:0071072)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phosphatidylglycerol biosynthetic process (GO:0006655)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylserine biosynthetic process (GO:0006659)|positive regulation of heat generation (GO:0031652)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to cold (GO:0009409)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						CAAGGCGGGCATGGAGGCCGC	0.701													A|||	38	0.00758786	0.0	0.0043	5008	,	,		12339	0.0		0.006	False		,,,				2504	0.0297				p.M153L		.											.	SLC27A1-226	0			c.A457T						.	A	LEU/MET	14,4364		0,14,2175	15.0	17.0	16.0		457	1.4	1.0	19	dbSNP_129	16	88,8450		1,86,4182	yes	missense	SLC27A1	NM_198580.1	15	1,100,6357	TT,TA,AA		1.0307,0.3198,0.7897	benign	153/647	17597661	102,12814	2189	4269	6458	SO:0001583	missense	376497	exon2			GCGGGCATGGAGG	BC059399	CCDS32953.1	19p13.11	2013-07-15			ENSG00000130304	ENSG00000130304		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10995	protein-coding gene	gene with protein product		600691				10873384	Standard	NM_198580		Approved	FATP1, FATP, MGC71751, FLJ00336, ACSVL5	uc002ngu.1	Q6PCB7	OTTHUMG00000182878	ENST00000252595.7:c.457A>T	19.37:g.17597661A>T	ENSP00000252595:p.Met153Leu	0	0		16	10	NM_198580	0	0	0	1	1	A6NIH2|B7Z662	Missense_Mutation	SNP	ENST00000252595.7	37	CCDS32953.1	8	0.003663003663003663	0	0.0	1	0.0027624309392265192	0	0.0	7	0.009234828496042216	A	15.08	2.726831	0.48833	0.003198	0.010307	ENSG00000130304	ENST00000442725;ENST00000252595;ENST00000300969	T;T	0.38887	1.11;1.11	4.92	1.36	0.22044	AMP-dependent synthetase/ligase (1);	0.200219	0.43260	D	0.000599	T	0.12561	0.0305	N	0.03000	-0.44	0.27871	N	0.940037	B	0.02656	0.0	B	0.12156	0.007	T	0.13656	-1.0501	10	0.45353	T	0.12	.	8.4725	0.32993	0.2677:0.0:0.7323:0.0	rs61743602	153	Q6PCB7	S27A1_HUMAN	L	153;153;15	ENSP00000413424:M153L;ENSP00000252595:M153L	ENSP00000252595:M153L	M	+	1	0	SLC27A1	17458661	0.760000	0.28428	0.998000	0.56505	0.839000	0.47603	1.022000	0.30052	0.132000	0.18615	-0.337000	0.08149	ATG	A|0.993;T|0.007		0.701	SLC27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464145.1	NM_198580	
ZNF254	9534	hgsc.bcm.edu;mdanderson.org	37	19	24310744	24310744	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr19:24310744G>A	ENST00000357002.4	+	4	2057	c.1942G>A	c.(1942-1944)Gat>Aat	p.D648N	ZNF254_ENST00000342944.6_Missense_Mutation_p.D563N	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	648					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				CCTCACCACAGATAAGATAAC	0.373																																					p.D648N		.											.	ZNF254-90	0			c.G1942A						.						82.0	86.0	85.0					19																	24310744		2203	4297	6500	SO:0001583	missense	9534	exon4			ACCACAGATAAGA	AF054180	CCDS32983.1, CCDS62622.1, CCDS62623.1, CCDS74323.1, CCDS74324.1	19p13	2013-01-08				ENSG00000213096		"""Zinc fingers, C2H2-type"", ""-"""	13047	protein-coding gene	gene with protein product		604768	"""zinc finger protein 539"""	ZNF91L, ZNF539		9653160	Standard	NM_001278661		Approved	HD-ZNF1, BMZF-5	uc002nru.3	O75437		ENST00000357002.4:c.1942G>A	19.37:g.24310744G>A	ENSP00000349494:p.Asp648Asn	8	0		16	7	NM_203282	0	0	2	3	1	A4QPC0|Q86XL7	Missense_Mutation	SNP	ENST00000357002.4	37	CCDS32983.1	.	.	.	.	.	.	.	.	.	.	G	8.142	0.785544	0.16189	.	.	ENSG00000213096	ENST00000342944;ENST00000357002;ENST00000392281	T;T	0.07444	3.19;3.36	0.525	-1.05	0.10036	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02688	0.0081	N	0.01352	-0.895	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.42050	-0.9474	9	0.87932	D	0	.	5.747	0.18126	0.0:0.637:0.3629:0.0	.	648	O75437	ZN254_HUMAN	N	563;648;340	ENSP00000445527:D563N;ENSP00000349494:D648N	ENSP00000445527:D563N	D	+	1	0	ZNF254	24102584	0.703000	0.27826	0.000000	0.03702	0.006000	0.05464	3.324000	0.52022	-0.454000	0.07066	0.305000	0.20034	GAT	.		0.373	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466453.1	NM_004876	
LRP3	4037	hgsc.bcm.edu	37	19	33698018	33698018	+	Missense_Mutation	SNP	C	C	T	rs11539586	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr19:33698018C>T	ENST00000253193.7	+	7	2052	c.1850C>T	c.(1849-1851)gCg>gTg	p.A617V	CTD-2540B15.13_ENST00000609744.1_RNA	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	617					receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					CGGCCGCGGGCGCCCCGAGGC	0.751													c|||	306	0.0611022	0.0598	0.0303	5008	,	,		10346	0.0446		0.0348	False		,,,				2504	0.1288				p.A617V		.											.	LRP3-92	0			c.C1850T						.	T	VAL/ALA	150,3256		0,150,1553	2.0	3.0	3.0		1850	1.1	0.1	19	dbSNP_120	3	222,6744		4,214,3265	no	missense	LRP3	NM_002333.3	64	4,364,4818	TT,TC,CC		3.1869,4.404,3.5866	benign	617/771	33698018	372,10000	1703	3483	5186	SO:0001583	missense	4037	exon7			CGCGGGCGCCCCG	AB009462	CCDS12430.1	19q13.11	2013-05-30			ENSG00000130881	ENSG00000130881		"""Low density lipoprotein receptors"""	6695	protein-coding gene	gene with protein product		603159				9693042, 7959795	Standard	NM_002333		Approved	LRP-3, hLRp105	uc010edh.3	O75074	OTTHUMG00000180343	ENST00000253193.7:c.1850C>T	19.37:g.33698018C>T	ENSP00000253193:p.Ala617Val	0	0		14	9	NM_002333	0	1	27	53	25	B3KQD6|B4DKF2	Missense_Mutation	SNP	ENST00000253193.7	37	CCDS12430.1	71	0.03250915750915751	23	0.046747967479674794	8	0.022099447513812154	15	0.026223776223776224	25	0.032981530343007916	c	1.581	-0.531531	0.04112	0.04404	0.031869	ENSG00000130881	ENST00000253193	D	0.87256	-2.23	3.32	1.14	0.20703	.	0.411391	0.20707	N	0.087178	T	0.38268	0.1034	L	0.38175	1.15	0.09310	N	1	B;D	0.63880	0.001;0.993	B;B	0.38562	0.001;0.276	T	0.55952	-0.8059	10	0.27785	T	0.31	-5.3016	8.5568	0.33487	0.0:0.7835:0.0:0.2165	rs11539586	617;535	O75074;B7ZAJ9	LRP3_HUMAN;.	V	617	ENSP00000253193:A617V	ENSP00000253193:A617V	A	+	2	0	LRP3	38389858	0.435000	0.25577	0.147000	0.22382	0.046000	0.14306	1.013000	0.29937	0.098000	0.17522	-3.141000	0.00059	GCG	T|0.000;G|0.967		0.751	LRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450842.4		
SLC7A10	56301	broad.mit.edu	37	19	33699842	33699842	+	Silent	SNP	T	T	G	rs541216108	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr19:33699842T>G	ENST00000253188.4	-	11	1673	c.1527A>C	c.(1525-1527)ccA>ccC	p.P509P	CTD-2540B15.13_ENST00000609744.1_RNA	NM_019849.2	NP_062823.1	Q9NS82	AAA1_HUMAN	solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10	509					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|D-alanine transport (GO:0042941)|D-serine transport (GO:0042942)|ion transport (GO:0006811)|L-serine transport (GO:0015825)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)|neutral amino acid transmembrane transporter activity (GO:0015175)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18	Esophageal squamous(110;0.137)					GCAGGGAGGGTGGGCAGGGGC	0.547													T|||	4	0.000798722	0.0023	0.0	5008	,	,		10342	0.0		0.0	False		,,,				2504	0.001				p.P509P		.											.	SLC7A10-91	0			c.A1527C						.						32.0	35.0	34.0					19																	33699842		2202	4300	6502	SO:0001819	synonymous_variant	56301	exon11			GGAGGGTGGGCAG	AB037670	CCDS12431.1	19q13.11	2013-05-28	2011-07-12		ENSG00000130876	ENSG00000130876		"""Solute carriers"""	11058	protein-coding gene	gene with protein product		607959				10734121, 10863037	Standard	NM_019849		Approved	asc-1	uc002num.2	Q9NS82	OTTHUMG00000180344	ENST00000253188.4:c.1527A>C	19.37:g.33699842T>G		40	7		58	13	NM_019849	0	0	0	0	0	B2RE84	Silent	SNP	ENST00000253188.4	37	CCDS12431.1																																																																																			.		0.547	SLC7A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450846.2	NM_019849	
FFAR1	2864	broad.mit.edu;mdanderson.org	37	19	35843174	35843174	+	Nonsense_Mutation	SNP	C	C	A			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr19:35843174C>A	ENST00000246553.2	+	1	730	c.720C>A	c.(718-720)taC>taA	p.Y240*		NM_005303.2	NP_005294.1	O14842	FFAR1_HUMAN	free fatty acid receptor 1	240					energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|positive regulation of GTPase activity (GO:0043547)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;4.58e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.67e-19)|all cancers(14;2.01e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		Icosapent(DB00159)	TAGGACCCTACAACGCCTCCA	0.692																																					p.Y240X		.											.	FFAR1-90	0			c.C720A						.						16.0	12.0	13.0					19																	35843174		2124	4155	6279	SO:0001587	stop_gained	2864	exon1			ACCCTACAACGCC	AF024687	CCDS12458.1	19q13.1	2012-08-08	2006-02-15	2006-02-15	ENSG00000126266	ENSG00000126266		"""GPCR / Class A : Fatty acid receptors"""	4498	protein-coding gene	gene with protein product		603820	"""G protein-coupled receptor 40"""	GPR40		15684720	Standard	NM_005303		Approved	FFA1R	uc002nzc.2	O14842		ENST00000246553.2:c.720C>A	19.37:g.35843174C>A	ENSP00000246553:p.Tyr240*	34	0		40	11	NM_005303	0	0	0	0	0	Q0VAS2|Q4VBL4	Nonsense_Mutation	SNP	ENST00000246553.2	37	CCDS12458.1	.	.	.	.	.	.	.	.	.	.	C	17.80	3.479450	0.63849	.	.	ENSG00000126266	ENST00000246553	.	.	.	4.0	2.96	0.34315	.	0.000000	0.64402	U	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.6342	5.5872	0.17281	0.0:0.746:0.0:0.254	.	.	.	.	X	240	.	ENSP00000246553:Y240X	Y	+	3	2	FFAR1	40535014	1.000000	0.71417	0.981000	0.43875	0.612000	0.37316	2.523000	0.45580	0.845000	0.35118	0.561000	0.74099	TAC	.		0.692	FFAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466112.2	NM_005303	
CATSPERG	57828	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	38845375	38845375	+	Silent	SNP	C	C	T	rs114967522		TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr19:38845375C>T	ENST00000409235.3	+	9	1138	c.1023C>T	c.(1021-1023)agC>agT	p.S341S	CATSPERG_ENST00000215069.4_Silent_p.S354S|CATSPERG_ENST00000410018.1_Silent_p.S341S	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	341					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						TCCTGGCCAGCGAGTGCATCA	0.557													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21200	0.0		0.0	False		,,,				2504	0.0				p.S341S		.											.	CATSPERG-92	0			c.C1023T						.						122.0	102.0	108.0					19																	38845375		692	1591	2283	SO:0001819	synonymous_variant	57828	exon9			GGCCAGCGAGTGC	AK128220	CCDS12514.2	19q13.1	2014-05-13	2012-02-22	2009-07-17	ENSG00000099338	ENSG00000099338			25243	protein-coding gene	gene with protein product		613452	"""chromosome 19 open reading frame 15"", ""cation channel, sperm-associated, gamma"""	C19orf15		19516020	Standard	NM_021185		Approved	DKFZp434A1022, FLJ46353	uc002oih.4	Q6ZRH7	OTTHUMG00000153223	ENST00000409235.3:c.1023C>T	19.37:g.38845375C>T		119	0		182	82	NM_021185	0	0	0	0	0	A6NEG6|Q659E1	Silent	SNP	ENST00000409235.3	37	CCDS12514.2																																																																																			C|0.999;T|0.001		0.557	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330204.1	NM_021185	
RINL	126432	hgsc.bcm.edu	37	19	39360720	39360720	+	Missense_Mutation	SNP	G	G	A	rs8110393	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr19:39360720G>A	ENST00000591812.1	-	9	1291	c.1205C>T	c.(1204-1206)cCc>cTc	p.P402L	RINL_ENST00000340740.3_Missense_Mutation_p.P288L|RINL_ENST00000602238.1_5'Flank|CTC-360G5.6_ENST00000593830.1_RNA|RINL_ENST00000598904.1_Missense_Mutation_p.P288L			Q6ZS11	RINL_HUMAN	Ras and Rab interactor-like	402	VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.		P -> L (in dbSNP:rs8110393).		endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)	actin cytoskeleton (GO:0015629)|cytoplasmic vesicle (GO:0031410)|ruffle (GO:0001726)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|urinary_tract(2)	17						GGCGGGGGCGGGGCTCTGCCC	0.781													G|||	3477	0.694289	0.9289	0.6153	5008	,	,		10275	0.7619		0.4642	False		,,,				2504	0.6002				p.P402L		.											.	RINL-91	0			c.C1205T						.	G	LEU/PRO,LEU/PRO	3328,464		1489,350,57	4.0	4.0	4.0		1205,863	3.5	1.0	19	dbSNP_116	4	4059,3433		1245,1569,932	no	missense,missense	RINL	NM_001195833.1,NM_198445.3	98,98	2734,1919,989	AA,AG,GG		45.8222,12.2363,34.5356	probably-damaging,probably-damaging	402/567,288/453	39360720	7387,3897	1896	3746	5642	SO:0001583	missense	126432	exon9			GGGGCGGGGCTCT	AK127808	CCDS12522.1, CCDS59386.1	19q13.2	2010-07-13			ENSG00000187994	ENSG00000187994			24795	protein-coding gene	gene with protein product							Standard	NM_001195833		Approved	FLJ45909	uc010xuo.2	Q6ZS11		ENST00000591812.1:c.1205C>T	19.37:g.39360720G>A	ENSP00000467107:p.Pro402Leu	0	0		9	9	NM_001195833	0	0	0	0	0	B4DPG5	Missense_Mutation	SNP	ENST00000591812.1	37	CCDS59386.1	1421	0.6506410256410257	458	0.9308943089430894	225	0.6215469613259669	401	0.701048951048951	337	0.4445910290237467	G	17.17	3.320891	0.60634	0.877637	0.541778	ENSG00000187994	ENST00000340740;ENST00000536520	T	0.28454	1.61	4.57	3.53	0.40419	Vacuolar sorting protein 9 (1);	0.269737	0.35235	N	0.003350	T	0.00012	0.0000	M	0.67700	2.07	0.21553	P	0.999649277	B;B	0.21225	0.053;0.053	B;B	0.22152	0.038;0.038	T	0.17776	-1.0358	9	0.72032	D	0.01	-26.0247	8.5759	0.33598	0.1063:0.0:0.8937:0.0	rs8110393;rs61482706	402;288	B4DPG5;Q6ZS11	.;RINL_HUMAN	L	288	ENSP00000340369:P288L	ENSP00000340369:P288L	P	-	2	0	RINL	44052560	1.000000	0.71417	0.987000	0.45799	0.313000	0.28021	4.771000	0.62318	1.273000	0.44346	0.407000	0.27541	CCC	G|0.349;A|0.651		0.781	RINL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460433.1	NM_198445	
ZNF234	10780	bcgsc.ca	37	19	44660559	44660559	+	Missense_Mutation	SNP	G	G	T	rs151243299	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr19:44660559G>T	ENST00000426739.2	+	6	648	c.390G>T	c.(388-390)ttG>ttT	p.L130F	ZNF234_ENST00000592437.1_Missense_Mutation_p.L130F	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	130	KRNB.				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(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				AAGGTGATTTGTCCTGCCAGG	0.398													G|||	15	0.00299521	0.0	0.0014	5008	,	,		22295	0.0		0.0139	False		,,,				2504	0.0				p.L130F		.											.	.	0			c.G390T						.	G	PHE/LEU,PHE/LEU	4,4016		0,4,2006	53.0	55.0	55.0		390,390	-2.5	0.0	19	dbSNP_134	55	52,8324		0,52,4136	yes	missense,missense	ZNF234	NM_001144824.1,NM_006630.2	22,22	0,56,6142	TT,TG,GG		0.6208,0.0995,0.4518	benign,benign	130/701,130/701	44660559	56,12340	2010	4188	6198	SO:0001583	missense	10780	exon6			TGATTTGTCCTGC	X78927	CCDS46101.1	19q13	2013-01-08				ENSG00000263002		"""Zinc fingers, C2H2-type"", ""-"""	13027	protein-coding gene	gene with protein product		604750		ZNF269		7865130	Standard	NM_006630		Approved	HZF4	uc002oyl.4	Q14588		ENST00000426739.2:c.390G>T	19.37:g.44660559G>T	ENSP00000400878:p.Leu130Phe	169	0		209	7	NM_006630	0	0	0	0	0	A8K1C8|Q96IR4|Q9NS45|Q9NYT7	Missense_Mutation	SNP	ENST00000426739.2	37	CCDS46101.1	16	0.007326007326007326	0	0.0	1	0.0027624309392265192	0	0.0	15	0.01978891820580475	G	0.061	-1.224317	0.01530	9.95E-4	0.006208	ENSG00000167380	ENST00000426739	T	0.05447	3.44	3.34	-2.48	0.06423	.	.	.	.	.	T	0.01092	0.0036	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46925	-0.9156	9	0.09590	T	0.72	.	3.4279	0.07417	0.4494:0.0:0.3269:0.2237	.	130	Q14588	ZN234_HUMAN	F	130	ENSP00000400878:L130F	ENSP00000400878:L130F	L	+	3	2	ZNF226	49352399	0.000000	0.05858	0.000000	0.03702	0.215000	0.24574	-0.211000	0.09332	-0.536000	0.06298	0.591000	0.81541	TTG	G|0.993;T|0.007		0.398	ZNF234-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460586.2		
GLTSCR2	29997	hgsc.bcm.edu	37	19	48258619	48258619	+	Silent	SNP	C	C	T			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr19:48258619C>T	ENST00000246802.5	+	9	1106	c.1068C>T	c.(1066-1068)gcC>gcT	p.A356A	CTD-2571L23.6_ENST00000602048.1_RNA|SNORD23_ENST00000408876.1_RNA|GLTSCR2_ENST00000598681.1_3'UTR	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2	356						intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)		TACAGCAGGCCGCGTTGCGGG	0.721																																					p.A356A	Colon(58;613 1041 9473 10089 15241)	.											.	GLTSCR2-514	0			c.C1068T						.																																			SO:0001819	synonymous_variant	29997	exon9			GCAGGCCGCGTTG	AF182076	CCDS12705.1	19q13.3	2014-01-20				ENSG00000105373			4333	protein-coding gene	gene with protein product		605691				10708517, 16971513, 17657248	Standard	NM_015710		Approved	PICT-1	uc002phm.2	Q9NZM5		ENST00000246802.5:c.1068C>T	19.37:g.48258619C>T		0	0		13	7	NM_015710	0	0	158	299	141	Q9BTC6|Q9HAX6|Q9NPP1|Q9NPR4|Q9UFI2	Silent	SNP	ENST00000246802.5	37	CCDS12705.1	.	.	.	.	.	.	.	.	.	.	C	6.380	0.438155	0.12104	.	.	ENSG00000105373	ENST00000325566	.	.	.	3.97	-3.8	0.04307	.	.	.	.	.	T	0.31888	0.0811	.	.	.	0.30622	N	0.75839	.	.	.	.	.	.	T	0.43734	-0.9373	5	0.39692	T	0.17	-7.7767	4.7208	0.12917	0.0:0.1949:0.3227:0.4824	.	.	.	.	L	353	.	ENSP00000324079:P353L	P	+	2	0	GLTSCR2	52950431	0.000000	0.05858	0.021000	0.16686	0.727000	0.41649	-3.272000	0.00531	-0.590000	0.05866	-0.257000	0.10917	CCG	.		0.721	GLTSCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464870.1	NM_015710	
SULT2B1	6820	broad.mit.edu	37	19	49100007	49100007	+	Silent	SNP	C	C	A			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr19:49100007C>A	ENST00000201586.2	+	6	835	c.657C>A	c.(655-657)ggC>ggA	p.G219G	SULT2B1_ENST00000323090.4_Silent_p.G204G|SULT2B1_ENST00000594274.1_3'UTR	NM_177973.1	NP_814444.1	O00204	ST2B1_HUMAN	sulfotransferase family, cytosolic, 2B, member 1	219					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	alcohol sulfotransferase activity (GO:0004027)|steroid sulfotransferase activity (GO:0050294)	p.G219G(1)|p.G204G(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	11		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178)		ACTTACAGGGCTCCGTGGAGC	0.652																																					p.G219G		.											.	SULT2B1-91	2	Substitution - coding silent(2)	endometrium(2)	c.C657A						.						42.0	36.0	38.0					19																	49100007		2203	4300	6503	SO:0001819	synonymous_variant	6820	exon6			ACAGGGCTCCGTG	U92314	CCDS12723.1, CCDS12724.1	19q13.3	2008-02-05				ENSG00000088002		"""Sulfotransferases, cytosolic"""	11459	protein-coding gene	gene with protein product		604125				9799594	Standard	NM_177973		Approved	HSST2	uc002pjl.3	O00204		ENST00000201586.2:c.657C>A	19.37:g.49100007C>A		28	0		64	5	NM_177973	0	0	0	0	0	O00205|O75814	Silent	SNP	ENST00000201586.2	37	CCDS12723.1																																																																																			.		0.652	SULT2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466140.1	NM_004605	
RASIP1	54922	hgsc.bcm.edu	37	19	49232226	49232226	+	Missense_Mutation	SNP	G	G	A	rs2287922	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr19:49232226G>A	ENST00000222145.4	-	5	2005	c.1801C>T	c.(1801-1803)Cgc>Tgc	p.R601C	RASIP1_ENST00000594232.1_5'Flank	NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	601	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.		R -> C (in dbSNP:rs2287922). {ECO:0000269|PubMed:15031288}.		angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|negative regulation of autophagy (GO:0010507)|regulation of Rho GTPase activity (GO:0032319)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	Golgi apparatus (GO:0005794)				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		CGGGCCAGGCGGCCCAGCAGT	0.731													G|||	1076	0.214856	0.1157	0.2997	5008	,	,		8786	0.0198		0.4791	False		,,,				2504	0.2178				p.R601C		.											.	RASIP1-228	0			c.C1801T						.	G	CYS/ARG	456,2624		82,292,1166	2.0	3.0	3.0		1801	4.2	1.0	19	dbSNP_100	3	2661,3381		645,1371,1005	yes	missense	RASIP1	NM_017805.2	180	727,1663,2171	AA,AG,GG		44.0417,14.8052,34.1701	probably-damaging	601/964	49232226	3117,6005	1540	3021	4561	SO:0001583	missense	54922	exon5			CCAGGCGGCCCAG	BC028614	CCDS12731.1	19q13.33	2008-02-05				ENSG00000105538			24716	protein-coding gene	gene with protein product		609623				15031288	Standard	NM_017805		Approved	FLJ20401, RAIN	uc002pki.3	Q5U651		ENST00000222145.4:c.1801C>T	19.37:g.49232226G>A	ENSP00000222145:p.Arg601Cys	0	0		5	5	NM_017805	0	0	0	15	15	Q6U676	Missense_Mutation	SNP	ENST00000222145.4	37	CCDS12731.1	571	0.26144688644688646	65	0.13211382113821138	127	0.35082872928176795	21	0.03671328671328671	358	0.47229551451187335	G	17.28	3.350878	0.61183	0.148052	0.440417	ENSG00000105538	ENST00000222145	T	0.27557	1.66	4.17	4.17	0.49024	Dilute (1);	0.331247	0.23983	N	0.042644	T	0.00012	0.0000	L	0.39898	1.24	0.22701	P	0.99883638	D	0.76494	0.999	P	0.54590	0.756	T	0.48328	-0.9045	9	0.66056	D	0.02	-0.9078	9.7493	0.40466	0.0:0.0:0.7933:0.2067	rs2287922	601	Q5U651	RAIN_HUMAN	C	601	ENSP00000222145:R601C	ENSP00000222145:R601C	R	-	1	0	RASIP1	53924038	1.000000	0.71417	1.000000	0.80357	0.642000	0.38348	3.181000	0.50903	2.023000	0.59567	0.462000	0.41574	CGC	G|0.738;A|0.262		0.731	RASIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466185.1	NM_017805	
TRPM4	54795	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	19	49699903	49699903	+	Missense_Mutation	SNP	A	A	G			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr19:49699903A>G	ENST00000252826.5	+	17	2543	c.2417A>G	c.(2416-2418)cAg>cGg	p.Q806R	TRPM4_ENST00000427978.2_Intron|TRPM4_ENST00000355712.5_Missense_Mutation_p.Q452R	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	806					calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		GTGGATTTCCAGCCGGCGCCG	0.657																																					p.Q806R		.											.	TRPM4-91	0			c.A2417G						.						21.0	19.0	19.0					19																	49699903		2148	4224	6372	SO:0001583	missense	54795	exon17			ATTTCCAGCCGGC	AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.2417A>G	19.37:g.49699903A>G	ENSP00000252826:p.Gln806Arg	24	0		55	26	NM_017636	0	0	2	2	0	A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Missense_Mutation	SNP	ENST00000252826.5	37	CCDS33073.1	.	.	.	.	.	.	.	.	.	.	a	0.022	-1.407589	0.01155	.	.	ENSG00000130529	ENST00000252826;ENST00000355712	T;T	0.60040	0.22;0.22	3.91	-0.724	0.11177	.	0.633338	0.15732	N	0.247360	T	0.41743	0.1172	L	0.42529	1.33	0.09310	N	0.999996	B;B;B	0.12630	0.0;0.0;0.006	B;B;B	0.09377	0.001;0.002;0.004	T	0.27773	-1.0064	10	0.15066	T	0.55	-5.8072	8.6911	0.34267	0.6693:0.0:0.3307:0.0	.	452;632;806	B4DIX5;Q8TD43-2;Q8TD43	.;.;TRPM4_HUMAN	R	806;452	ENSP00000252826:Q806R;ENSP00000347944:Q452R	ENSP00000252826:Q806R	Q	+	2	0	TRPM4	54391715	0.003000	0.15002	0.369000	0.25952	0.059000	0.15707	0.492000	0.22435	-0.357000	0.08175	-1.399000	0.01144	CAG	.		0.657	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465543.2	NM_017636	
SLC6A16	28968	broad.mit.edu	37	19	49812163	49812163	+	Missense_Mutation	SNP	G	G	A	rs534129369		TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr19:49812163G>A	ENST00000335875.4	-	7	1440	c.1199C>T	c.(1198-1200)gCg>gTg	p.A400V	SLC6A16_ENST00000454748.3_Missense_Mutation_p.A400V|MIR4324_ENST00000584846.1_RNA	NM_014037.2	NP_054756.2	Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	400					neurotransmitter transport (GO:0006836)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		GATGACTGTCGCCCAGAAGCC	0.488													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20092	0.0		0.0	False		,,,				2504	0.0				p.A400V		.											.	SLC6A16-94	0			c.C1199T						.						102.0	97.0	99.0					19																	49812163		1982	4162	6144	SO:0001583	missense	28968	exon7			ACTGTCGCCCAGA	AF265578	CCDS42590.1	19q13.33	2013-05-22			ENSG00000063127	ENSG00000063127		"""Solute carriers"""	13622	protein-coding gene	gene with protein product	"""NTT5 protein"""	607972	"""solute carrier family 6 (neurotransmitter transporter), member 16"""			10471414, 11112352	Standard	XM_005258820		Approved	NTT5	uc002pmz.3	Q9GZN6		ENST00000335875.4:c.1199C>T	19.37:g.49812163G>A	ENSP00000338627:p.Ala400Val	112	0		148	5	NM_014037	0	0	0	0	0	Q8IYV4|Q9Y5I9	Missense_Mutation	SNP	ENST00000335875.4	37	CCDS42590.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.013835	0.75161	.	.	ENSG00000063127	ENST00000335875;ENST00000454748	T;T	0.80824	-1.42;-1.42	4.27	2.14	0.27477	.	0.056803	0.64402	N	0.000002	D	0.90848	0.7125	H	0.95437	3.67	0.38758	D	0.95426	D;D	0.89917	1.0;1.0	D;D	0.74348	0.983;0.983	D	0.91182	0.4977	10	0.87932	D	0	.	8.7958	0.34878	0.187:0.0:0.813:0.0	.	400;400	Q8IYV4;Q9GZN6	.;S6A16_HUMAN	V	400	ENSP00000338627:A400V;ENSP00000404022:A400V	ENSP00000338627:A400V	A	-	2	0	SLC6A16	54503975	1.000000	0.71417	0.661000	0.29709	0.027000	0.11550	8.387000	0.90167	0.745000	0.32763	0.561000	0.74099	GCG	.		0.488	SLC6A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465503.2	NM_014037	
TSKS	60385	hgsc.bcm.edu	37	19	50249883	50249883	+	Missense_Mutation	SNP	G	G	A	rs142807989	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr19:50249883G>A	ENST00000246801.3	-	6	918	c.836C>T	c.(835-837)tCc>tTc	p.S279F	TSKS_ENST00000358830.3_Missense_Mutation_p.S79F	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	279					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)	p.S279Y(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		GCAGCCCTGGGACGTGGCGGC	0.741													G|||	6	0.00119808	0.0	0.0014	5008	,	,		12913	0.0		0.005	False		,,,				2504	0.0				p.S279F		.											.	TSKS-154	1	Substitution - Missense(1)	central_nervous_system(1)	c.C836T						.	G	PHE/SER	2,4362		0,2,2180	14.0	16.0	15.0		836	2.3	0.3	19	dbSNP_134	15	25,8525		0,25,4250	no	missense	TSKS	NM_021733.1	155	0,27,6430	AA,AG,GG		0.2924,0.0458,0.2091	benign	279/593	50249883	27,12887	2182	4275	6457	SO:0001583	missense	60385	exon6			CCCTGGGACGTGG	BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 161"""	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.836C>T	19.37:g.50249883G>A	ENSP00000246801:p.Ser279Phe	0	0		22	13	NM_021733	0	0	0	0	0	Q8WXJ0	Missense_Mutation	SNP	ENST00000246801.3	37	CCDS12780.1	4	0.0018315018315018315	0	0.0	0	0.0	0	0.0	4	0.005277044854881266	G	12.46	1.945926	0.34377	4.58E-4	0.002924	ENSG00000126467	ENST00000246801;ENST00000358830	T;T	0.37411	1.2;1.2	4.51	2.31	0.28768	.	0.844658	0.10094	N	0.716874	T	0.15176	0.0366	N	0.14661	0.345	0.09310	N	0.999999	B	0.23735	0.09	B	0.26693	0.072	T	0.23797	-1.0178	10	0.51188	T	0.08	3.0E-4	4.532	0.12010	0.1171:0.0:0.6625:0.2203	.	279	Q9UJT2	TSKS_HUMAN	F	279;79	ENSP00000246801:S279F;ENSP00000351691:S79F	ENSP00000246801:S279F	S	-	2	0	TSKS	54941695	0.003000	0.15002	0.305000	0.25099	0.127000	0.20565	0.418000	0.21230	0.459000	0.27016	0.655000	0.94253	TCC	G|0.999;A|0.001		0.741	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465795.1	NM_021733	
SHANK1	50944	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	51172454	51172454	+	Silent	SNP	G	G	T			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr19:51172454G>T	ENST00000293441.1	-	22	2781	c.2763C>A	c.(2761-2763)ccC>ccA	p.P921P	SHANK1_ENST00000391814.1_Silent_p.P929P|SYT3_ENST00000544769.1_5'Flank|SHANK1_ENST00000359082.3_Silent_p.P912P|SHANK1_ENST00000391813.1_Silent_p.P308P	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	921					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		TGGGTGGCGGGGGAATGTCCT	0.657											OREG0025642	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.P921P		.											.	SHANK1-153	0			c.C2763A						.						22.0	21.0	21.0					19																	51172454		2203	4300	6503	SO:0001819	synonymous_variant	50944	exon22			TGGCGGGGGAATG	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.2763C>A	19.37:g.51172454G>T		26	0	975	40	18	NM_016148	0	0	0	0	0	A8MXP5|B7WNY6|Q9NYW9	Silent	SNP	ENST00000293441.1	37	CCDS12799.1																																																																																			.		0.657	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148	
DPRX	503834	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	54140161	54140161	+	Silent	SNP	C	C	G			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr19:54140161C>G	ENST00000376650.1	+	3	546	c.495C>G	c.(493-495)ccC>ccG	p.P165P		NM_001012728.1	NP_001012746.1	A6NFQ7	DPRX_HUMAN	divergent-paired related homeobox	165					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(4)|large_intestine(1)|lung(7)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)		GCCTCTACCCCATTTTGGAAT	0.458																																					p.P165P		.											.	DPRX-90	0			c.C495G						.						114.0	112.0	113.0					19																	54140161		2203	4300	6503	SO:0001819	synonymous_variant	503834	exon3			CTACCCCATTTTG		CCDS33103.1	19q13.42	2011-06-20			ENSG00000204595	ENSG00000204595		"""Homeoboxes / PRD class"""	32166	protein-coding gene	gene with protein product		611165					Standard	NM_001012728		Approved		uc002qcf.1	A6NFQ7		ENST00000376650.1:c.495C>G	19.37:g.54140161C>G		130	0		166	71	NM_001012728	0	0	0	0	0		Silent	SNP	ENST00000376650.1	37	CCDS33103.1																																																																																			.		0.458	DPRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409880.1	NM_001012728	
TMC4	147798	bcgsc.ca	37	19	54676763	54676763	+	Missense_Mutation	SNP	C	C	T	rs641738	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr19:54676763C>T	ENST00000376591.4	-	1	181	c.50G>A	c.(49-51)gGg>gAg	p.G17E	TMC4_ENST00000301187.4_Missense_Mutation_p.G17E|TMC4_ENST00000476013.2_5'Flank	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	17			G -> E (in dbSNP:rs641738). {ECO:0000269|PubMed:12812529}.		ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GGCCAGCCACCCCCTAGAGGA	0.632													C|||	1872	0.373802	0.32	0.3429	5008	,	,		15567	0.2173		0.4404	False		,,,				2504	0.5613				p.G17E		.											.	TMC4-91	0			c.G50A						.	C	GLU/GLY,GLU/GLY	1567,2839	480.3+/-358.8	280,1007,916	91.0	105.0	100.0		50,50	0.2	0.0	19	dbSNP_83	100	3725,4875	524.7+/-380.6	785,2155,1360	yes	missense,missense	TMC4	NM_001145303.1,NM_144686.2	98,98	1065,3162,2276	TT,TC,CC		43.314,35.5651,40.6889	benign,benign	17/713,17/707	54676763	5292,7714	2203	4300	6503	SO:0001583	missense	147798	exon1			AGCCACCCCCTAG	AY236492	CCDS12882.1, CCDS46174.1	19q13.42	2008-02-05			ENSG00000167608	ENSG00000167608			22998	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005277069		Approved		uc010erf.3	Q7Z404	OTTHUMG00000066485	ENST00000376591.4:c.50G>A	19.37:g.54676763C>T	ENSP00000365776:p.Gly17Glu	59	0		64	5	NM_001145303	0	0	0	0	0	Q7Z5M3|Q8N5E4|Q8TBS7	Missense_Mutation	SNP	ENST00000376591.4	37	CCDS46174.1	737	0.3374542124542125	159	0.3231707317073171	128	0.35359116022099446	112	0.1958041958041958	338	0.44591029023746703	C	11.35	1.613979	0.28712	0.355651	0.43314	ENSG00000167608	ENST00000301187;ENST00000376591	T;T	0.72615	-0.62;-0.67	3.92	0.213	0.15244	.	6.366860	0.00725	N	0.000915	T	0.00012	0.0000	L	0.45581	1.43	0.58432	P	9.000000000036756E-6	B;B	0.06786	0.001;0.001	B;B	0.08055	0.001;0.003	T	0.29088	-1.0023	9	0.05351	T	0.99	-3.0961	4.0735	0.09892	0.0:0.5573:0.1929:0.2497	rs641738;rs61242378;rs641738	17;17	Q7Z404;Q7Z404-1	TMC4_HUMAN;.	E	17	ENSP00000301187:G17E;ENSP00000365776:G17E	ENSP00000301187:G17E	G	-	2	0	TMC4	59368575	0.000000	0.05858	0.000000	0.03702	0.284000	0.27059	-1.506000	0.02271	0.015000	0.14971	0.462000	0.41574	GGG	C|0.615;T|0.385		0.632	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000156164.2		
ZNF787	126208	hgsc.bcm.edu	37	19	56599438	56599440	+	In_Frame_Del	DEL	TCG	TCG	-	rs5828672|rs71696054	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	TCG	TCG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr19:56599438_56599440delTCG	ENST00000270459.3	-	3	1219_1221	c.1101_1103delCGA	c.(1099-1104)gacgag>gag	p.D367del		NM_001002836.2	NP_001002836	Q6DD87	ZN787_HUMAN	zinc finger protein 787	367					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0559)		GCCCGCGGCCTCGTCGTCGTCGT	0.778														4509	0.900359	0.9939	0.732	5008	,	,		3238	0.7252		0.9821	False		,,,				2504	0.9898				p.367_368del		.											.	ZNF787-69	0			c.1101_1103del						.																																			SO:0001651	inframe_deletion	126208	exon3			GCGGCCTCGTCGT	BC077728, AF000560	CCDS42634.1	19q13.42	2013-01-08				ENSG00000142409		"""Zinc fingers, C2H2-type"""	26998	protein-coding gene	gene with protein product							Standard	NM_001002836		Approved		uc010eth.1	Q6DD87		ENST00000270459.3:c.1101_1103delCGA	19.37:g.56599447_56599449delTCG	ENSP00000270459:p.Asp367del	0	0		12	12	NM_001002836	0	0	0	0	0	O00455	In_Frame_Del	DEL	ENST00000270459.3	37	CCDS42634.1																																																																																			.		0.778	ZNF787-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457498.1	NM_001002836	
ZNF814	730051	ucsc.edu	37	19	58384712	58384712	+	Silent	SNP	A	A	G			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr19:58384712A>G	ENST00000435989.2	-	3	2280	c.2046T>C	c.(2044-2046)caT>caC	p.H682H	ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	682					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						TTTCTCCAGTATGGCCATGCT	0.408																																					p.H682H		.											.	.	0			c.T2046C						.						68.0	57.0	60.0					19																	58384712		692	1591	2283	SO:0001819	synonymous_variant	730051	exon3			TCCAGTATGGCCA		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.2046T>C	19.37:g.58384712A>G		139	0		189	1	NM_001144989	0	0	3	5	2	A6NF35	Silent	SNP	ENST00000435989.2	37	CCDS46212.1																																																																																			.		0.408	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708	
ZNF606	80095	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	58500063	58500063	+	Silent	SNP	G	G	A	rs182994172	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr19:58500063G>A	ENST00000341164.4	-	5	824	c.204C>T	c.(202-204)gcC>gcT	p.A68A	ZNF606_ENST00000536132.1_5'UTR|ZNF606_ENST00000552579.1_5'UTR	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	68	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		TGAAGTCCACGGCCACGTCCT	0.547																																					p.A68A		.											.	ZNF606-92	0			c.C204T						.						183.0	171.0	175.0					19																	58500063		2203	4300	6503	SO:0001819	synonymous_variant	80095	exon5			GTCCACGGCCACG	AB058755	CCDS12968.1	19q13.43	2013-01-08			ENSG00000166704	ENSG00000166704		"""Zinc fingers, C2H2-type"", ""-"""	25879	protein-coding gene	gene with protein product		613905		ZNF328		11347906	Standard	XM_005259276		Approved	FLJ14260, KIAA1852	uc002qqw.3	Q8WXB4	OTTHUMG00000169804	ENST00000341164.4:c.204C>T	19.37:g.58500063G>A		67	1		90	43	NM_025027	0	0	0	0	0	A8KAN2|Q8NE04|Q96JH5	Silent	SNP	ENST00000341164.4	37	CCDS12968.1																																																																																			G|0.999;T|0.001		0.547	ZNF606-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405961.1	NM_025027	
CMPK2	129607	hgsc.bcm.edu	37	2	7005369	7005369	+	Silent	SNP	A	A	G	rs11678810	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr2:7005369A>G	ENST00000256722.5	-	1	458	c.459T>C	c.(457-459)tgT>tgC	p.C153C	CMPK2_ENST00000404168.1_Silent_p.C153C|CMPK2_ENST00000478738.1_Intron|CMPK2_ENST00000458098.1_Silent_p.C153C	NM_207315.3	NP_997198.2	Q5EBM0	CMPK2_HUMAN	cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial	153					cellular response to lipopolysaccharide (GO:0071222)|dTDP biosynthetic process (GO:0006233)|dUDP biosynthetic process (GO:0006227)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)|thymidylate kinase activity (GO:0004798)|UMP kinase activity (GO:0033862)			large_intestine(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GTGCCTCCTGACAGGCGCCCA	0.741													G|||	4998	0.998003	0.9924	1.0	5008	,	,		10694	1.0		1.0	False		,,,				2504	1.0				p.C153C		.											.	CMPK2-68	0			c.T459C						.	G		3605,39		1783,39,0	3.0	4.0	4.0		459	1.6	0.0	2	dbSNP_120	4	7874,0		3937,0,0	no	coding-synonymous	CMPK2	NM_207315.2		5720,39,0	GG,GA,AA		0.0,1.0703,0.3386		153/450	7005369	11479,39	1822	3937	5759	SO:0001819	synonymous_variant	129607	exon1			CTCCTGACAGGCG		CCDS42648.1, CCDS58695.1, CCDS58696.1	2p25.2	2008-01-25			ENSG00000134326	ENSG00000134326	2.7.4.14		27015	protein-coding gene	gene with protein product	"""cytidylate kinase 2"""	611787				17999954	Standard	NM_207315		Approved	TYKi, UMP-CMPK2	uc002qyo.4	Q5EBM0	OTTHUMG00000151629	ENST00000256722.5:c.459T>C	2.37:g.7005369A>G		0	0		10	10	NM_001256478	0	0	0	1	1	A2RUB0|A5D8T2|B7ZM18|Q6ZRU2|Q96AL8	Silent	SNP	ENST00000256722.5	37	CCDS42648.1																																																																																			A|0.003;G|0.997		0.741	CMPK2-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323339.2	NM_207315	
TMEM247	388946	ucsc.edu;bcgsc.ca	37	2	46707808	46707808	+	Missense_Mutation	SNP	C	C	G	rs70940616|rs74318890		TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr2:46707808C>G	ENST00000434431.1	+	2	382	c.382C>G	c.(382-384)Cag>Gag	p.Q128E		NM_001145051.2	NP_001138523.1	A6NEH6	TM247_HUMAN	transmembrane protein 247	128						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)											GAACCAGCGGCAGCGGCAGCA	0.662																																					p.Q128E		.											.	.	0			c.C382G						.						30.0	40.0	37.0					2																	46707808		692	1591	2283	SO:0001583	missense	388946	exon2			CAGCGGCAGCGGC		CCDS56117.1	2p21	2012-04-11			ENSG00000187600	ENSG00000187600			42967	protein-coding gene	gene with protein product							Standard	NM_001145051		Approved		uc010yod.3	A6NEH6	OTTHUMG00000153137	ENST00000434431.1:c.382C>G	2.37:g.46707808C>G	ENSP00000388684:p.Gln128Glu	115	1		389	65	NM_001145051	0	0	0	0	0		Missense_Mutation	SNP	ENST00000434431.1	37	CCDS56117.1	.	.	.	.	.	.	.	.	.	.	C	17.67	3.447093	0.63178	.	.	ENSG00000187600	ENST00000434431	.	.	.	4.76	4.76	0.60689	.	0.000000	0.39475	N	0.001353	T	0.65606	0.2707	L	0.34521	1.04	.	.	.	D	0.56035	0.974	D	0.70487	0.969	T	0.71735	-0.4503	8	0.54805	T	0.06	-28.7409	14.7885	0.69821	0.0:1.0:0.0:0.0	.	128	A6NEH6	YB028_HUMAN	E	128	.	ENSP00000388684:Q128E	Q	+	1	0	AC018682.6	46561312	1.000000	0.71417	1.000000	0.80357	0.569000	0.35902	3.910000	0.56371	2.484000	0.83849	0.563000	0.77884	CAG	G|1.000;|0.000		0.662	TMEM247-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329726.1	NM_001145051	
ASPRV1	151516	broad.mit.edu	37	2	70188562	70188562	+	Missense_Mutation	SNP	C	C	T	rs148290351		TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr2:70188562C>T	ENST00000320256.4	-	1	835	c.259G>A	c.(259-261)Ggg>Agg	p.G87R	PCBP1-AS1_ENST00000596259.1_RNA|PCBP1-AS1_ENST00000418564.1_RNA|PCBP1-AS1_ENST00000413436.1_RNA|PCBP1-AS1_ENST00000435880.2_RNA|PCBP1-AS1_ENST00000457076.1_RNA|PCBP1-AS1_ENST00000419542.1_RNA|PCBP1-AS1_ENST00000415222.1_RNA	NM_152792.2	NP_690005.2			aspartic peptidase, retroviral-like 1											endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						GCTCCGCTCCCGGCCATCCTG	0.622													C|||	1	0.000199681	0.0	0.0	5008	,	,		17636	0.0		0.001	False		,,,				2504	0.0				p.G87R		.											.	ASPRV1-69	0			c.G259A						.	C	ARG/GLY	4,4402	8.1+/-20.4	0,4,2199	45.0	42.0	43.0		259	3.3	0.0	2	dbSNP_134	43	11,8589	8.4+/-32.0	0,11,4289	yes	missense	ASPRV1	NM_152792.2	125	0,15,6488	TT,TC,CC		0.1279,0.0908,0.1153	possibly-damaging	87/344	70188562	15,12991	2203	4300	6503	SO:0001583	missense	151516	exon1			CGCTCCCGGCCAT	AK055994	CCDS1897.1	2p13.3	2008-02-20			ENSG00000244617	ENSG00000244617			26321	protein-coding gene	gene with protein product	"""Skin ASpartic Protease"""	611765				16098038, 16565508	Standard	NM_152792		Approved	Taps, SASPase, FLJ25084	uc002sfz.4	Q53RT3	OTTHUMG00000129647	ENST00000320256.4:c.259G>A	2.37:g.70188562C>T	ENSP00000315383:p.Gly87Arg	125	0		200	5	NM_152792	0	0	1	1	0		Missense_Mutation	SNP	ENST00000320256.4	37	CCDS1897.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	8.173	0.792161	0.16258	9.08E-4	0.001279	ENSG00000244617	ENST00000320256	T	0.48836	0.8	5.79	3.27	0.37495	.	2.549940	0.03618	N	0.235833	T	0.35068	0.0919	N	0.19112	0.55	0.09310	N	1	P	0.47910	0.902	B	0.37304	0.246	T	0.36672	-0.9738	10	0.66056	D	0.02	-0.3537	9.2115	0.37322	0.0:0.8365:0.0:0.1635	.	87	Q53RT3	APRV1_HUMAN	R	87	ENSP00000315383:G87R	ENSP00000315383:G87R	G	-	1	0	ASPRV1	70042066	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	0.878000	0.28126	0.427000	0.26145	0.655000	0.94253	GGG	C|0.999;T|0.001		0.622	ASPRV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334161.1	NM_152792	
DNAH6	1768	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	84771405	84771405	+	Silent	SNP	C	C	T			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr2:84771405C>T	ENST00000237449.6	+	4	719	c.711C>T	c.(709-711)agC>agT	p.S237S	DNAH6_ENST00000398278.2_Silent_p.S237S|DNAH6_ENST00000389394.3_Silent_p.S237S|DNAH6_ENST00000468661.1_3'UTR			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	237	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						ATACTATTAGCCAAAGGGCAG	0.289																																					p.S237S		.											.	DNAH6-69	0			c.C711T						.						59.0	48.0	52.0					2																	84771405		692	1590	2282	SO:0001819	synonymous_variant	1768	exon5			TATTAGCCAAAGG	U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"""Axonemal dyneins"""	2951	protein-coding gene	gene with protein product		603336	"""dynein, axonemal, heavy polypeptide 6"", ""dynein heavy chain-like 1"""	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.711C>T	2.37:g.84771405C>T		116	0		146	58	NM_001370	0	0	0	0	0	A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Silent	SNP	ENST00000237449.6	37	CCDS46348.1																																																																																			.		0.289	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328537.2	NM_001370	
XIRP2	129446	broad.mit.edu	37	2	168108439	168108439	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr2:168108439G>A	ENST00000409195.1	+	9	10626	c.10537G>A	c.(10537-10539)Gaa>Aaa	p.E3513K	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E3513K|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E3291K|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3338					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CTTCCAAGAGGAATCTGCATT	0.388																																					p.E3513K		.											.	XIRP2-104	0			c.G10537A						.						67.0	63.0	64.0					2																	168108439		1867	4089	5956	SO:0001583	missense	129446	exon9			CAAGAGGAATCTG	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.10537G>A	2.37:g.168108439G>A	ENSP00000386840:p.Glu3513Lys	16	0		26	3	NM_152381	0	0	0	0	0	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.958790	0.53400	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.02944	4.1;4.1;4.1	5.76	5.76	0.90799	.	1.342540	0.04733	N	0.421408	T	0.10937	0.0267	M	0.68952	2.095	0.32197	N	0.578327	P;D;P	0.55385	0.952;0.971;0.873	B;P;B	0.46758	0.326;0.526;0.372	T	0.40997	-0.9533	10	0.72032	D	0.01	-4.0594	18.7332	0.91744	0.0:0.0:1.0:0.0	.	3338;3338;3291	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	K	3513;3513;3291;927	ENSP00000386840:E3513K;ENSP00000295237:E3513K;ENSP00000387255:E3291K	ENSP00000295237:E3513K	E	+	1	0	XIRP2	167816685	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	5.521000	0.67086	2.722000	0.93159	0.650000	0.86243	GAA	.		0.388	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381	
KCNE4	23704	broad.mit.edu;bcgsc.ca	37	2	223917881	223917881	+	Silent	SNP	C	C	T			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr2:223917881C>T	ENST00000281830.3	+	2	817	c.486C>T	c.(484-486)ccC>ccT	p.P162P	KCNE4_ENST00000488477.2_Intron|KCNE4_ENST00000604125.1_Silent_p.P111P			Q8WWG9	KCNE4_HUMAN	potassium voltage-gated channel, Isk-related family, member 4	162						apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	voltage-gated potassium channel activity (GO:0005249)			large_intestine(2)|lung(5)|ovary(2)|skin(1)	10		Renal(207;0.0183)|Lung NSC(271;0.137)|all_lung(227;0.175)		Epithelial(121;4.48e-11)|all cancers(144;2.88e-08)|Lung(261;0.00688)|LUSC - Lung squamous cell carcinoma(224;0.008)		GCGTGGCGCCCGCGCTGTCCT	0.677																																					p.P162P		.											.	KCNE4-91	0			c.C486T						.						46.0	47.0	47.0					2																	223917881		2203	4300	6503	SO:0001819	synonymous_variant	23704	exon2			GGCGCCCGCGCTG	AY065987	CCDS2456.1, CCDS2456.2	2q36.1	2008-02-05			ENSG00000152049	ENSG00000152049		"""Potassium channels"""	6244	protein-coding gene	gene with protein product		607775				10219239, 12670483	Standard	NM_080671		Approved	MiRP3	uc002vnl.5	Q8WWG9	OTTHUMG00000133161	ENST00000281830.3:c.486C>T	2.37:g.223917881C>T		47	2		110	36	NM_080671	0	0	3	3	0	B7Z275|Q53SM4|Q96CC4	Silent	SNP	ENST00000281830.3	37																																																																																				.		0.677	KCNE4-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000330997.2	NM_080671	
WDFY1	57590	hgsc.bcm.edu	37	2	224809876	224809876	+	Silent	SNP	G	G	T			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr2:224809876G>T	ENST00000233055.4	-	1	228	c.126C>A	c.(124-126)gcC>gcA	p.A42A		NM_020830.3	NP_065881.1	Q8IWB7	WDFY1_HUMAN	WD repeat and FYVE domain containing 1	42						cytosol (GO:0005829)|early endosome (GO:0005769)|nucleus (GO:0005634)	1-phosphatidylinositol binding (GO:0005545)|zinc ion binding (GO:0008270)			NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)		TGTCCTCGCTGGCCGTGATCA	0.751																																					p.A42A		.											.	WDFY1-226	0			c.C126A						.						11.0	12.0	12.0					2																	224809876		2184	4270	6454	SO:0001819	synonymous_variant	57590	exon1			CTCGCTGGCCGTG	AB037856	CCDS33387.1	2q36.2	2013-01-09	2003-03-13		ENSG00000085449	ENSG00000085449		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20451	protein-coding gene	gene with protein product			"""WD40 and FYVE domain containing 1"""			11739631	Standard	NM_020830		Approved	KIAA1435, FENS-1, WDF1, ZFYVE17	uc002vnq.3	Q8IWB7	OTTHUMG00000153370	ENST00000233055.4:c.126C>A	2.37:g.224809876G>T		3	0		71	40	NM_020830	0	0	0	0	0	Q53S17|Q9H9D5|Q9P2B3	Silent	SNP	ENST00000233055.4	37	CCDS33387.1																																																																																			.		0.751	WDFY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330908.1	NM_020830	
FRG1B	284802	bcgsc.ca	37	20	29628299	29628299	+	Missense_Mutation	SNP	A	A	G			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr20:29628299A>G	ENST00000278882.3	+	6	681	c.301A>G	c.(301-303)Agt>Ggt	p.S101G	FRG1B_ENST00000439954.2_Missense_Mutation_p.S106G|FRG1B_ENST00000358464.4_Missense_Mutation_p.S101G			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	101										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AGAAGCAAAAAGTAAAACAGC	0.363																																					.		.											.	FRG1B-22	0			.						.																																			SO:0001583	missense	284802	.			GCAAAAAGTAAAA			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.301A>G	20.37:g.29628299A>G	ENSP00000278882:p.Ser101Gly	412	11		396	23	.	0	0	79	79	0	C4AME5	RNA	SNP	ENST00000278882.3	37		.	.	.	.	.	.	.	.	.	.	a	16.61	3.170807	0.57584	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.50001	0.76	2.08	2.08	0.27032	Actin cross-linking (1);	0.125588	0.64402	D	0.000001	T	0.38719	0.1051	.	.	.	0.42178	D	0.991671	B;P	0.36483	0.147;0.555	B;B	0.37731	0.138;0.257	T	0.38178	-0.9673	9	0.62326	D	0.03	.	8.0833	0.30758	1.0:0.0:0.0:0.0	.	106;101	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	G	101;106;101	ENSP00000408863:S106G	ENSP00000278882:S101G	S	+	1	0	FRG1B	28241960	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	8.085000	0.89518	1.208000	0.43306	0.347000	0.21830	AGT	.		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579	
IFT52	51098	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	20	42233641	42233641	+	Splice_Site	SNP	G	G	T			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr20:42233641G>T	ENST00000373030.3	+	6	543		c.e6-1		IFT52_ENST00000373039.4_Splice_Site	NM_016004.2	NP_057088.2	Q9Y366	IFT52_HUMAN	intraflagellar transport 52						cilium morphogenesis (GO:0060271)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|intraciliary transport (GO:0042073)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube formation (GO:0001841)|regulation of protein processing (GO:0070613)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary base (GO:0097546)|ciliary tip (GO:0097542)|cilium (GO:0005929)|dendrite terminus (GO:0044292)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)	protein C-terminus binding (GO:0008022)			endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TCTTCTTCAAGGGAAATTAGC	0.413																																					.		.											.	IFT52-92	0			c.414-1G>T						.						77.0	80.0	79.0					20																	42233641		2203	4300	6503	SO:0001630	splice_region_variant	51098	exon6			CTTCAAGGGAAAT	AF151811	CCDS33470.1	20q12-q13.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000101052	ENSG00000101052		"""Intraflagellar transport homologs"""	15901	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 9"", ""intraflagellar transport 52 homolog (Chlamydomonas)"""	C20orf9		10810093	Standard	NM_016004		Approved	CGI-53, NGD5, dJ1028D15.1, NGD2	uc002xkw.3	Q9Y366	OTTHUMG00000032513	ENST00000373030.3:c.414-1G>T	20.37:g.42233641G>T		48	0		69	31	NM_016004	0	0	0	0	0	B3KMA1|E1P5W9|Q5H8Z0|Q9H1G3|Q9H1G4|Q9H1H2	Splice_Site	SNP	ENST00000373030.3	37	CCDS33470.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.139064	0.77775	.	.	ENSG00000101052	ENST00000373030;ENST00000373039	.	.	.	4.99	4.99	0.66335	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4356	0.87550	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IFT52	41667055	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.071000	0.93980	2.480000	0.83734	0.561000	0.74099	.	.		0.413	IFT52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079317.1	NM_016004	Intron
SPATA25	128497	bcgsc.ca	37	20	44515559	44515559	+	Missense_Mutation	SNP	G	G	A	rs3827040	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr20:44515559G>A	ENST00000372519.3	-	2	325	c.281C>T	c.(280-282)cCg>cTg	p.P94L		NM_080608.3	NP_542175.1	Q9BR10	SPT25_HUMAN	spermatogenesis associated 25	94			P -> L (in dbSNP:rs3827040).		cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CCTCACATGCGGGAATTTGTG	0.637													G|||	538	0.107428	0.202	0.062	5008	,	,		20003	0.1438		0.0209	False		,,,				2504	0.0634				p.P94L		.											.	.	0			c.C281T						.	G	LEU/PRO	800,3606	321.3+/-297.0	82,636,1485	123.0	124.0	124.0		281	1.9	0.0	20	dbSNP_107	124	101,8499	55.2+/-116.2	0,101,4199	yes	missense	C20orf165	NM_080608.3	98	82,737,5684	AA,AG,GG		1.1744,18.1571,6.9276	probably-damaging	94/228	44515559	901,12105	2203	4300	6503	SO:0001583	missense	128497	exon2			ACATGCGGGAATT	AL008726	CCDS13383.1	20q13.12	2011-11-24	2011-11-24	2011-11-24	ENSG00000149634	ENSG00000149634			16158	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 165"""	C20orf165		19240080	Standard	NM_080608		Approved	dJ337O18.8, TSG23	uc002xqf.3	Q9BR10	OTTHUMG00000032628	ENST00000372519.3:c.281C>T	20.37:g.44515559G>A	ENSP00000361597:p.Pro94Leu	77	0		111	6	NM_080608	0	0	0	0	0		Missense_Mutation	SNP	ENST00000372519.3	37	CCDS13383.1	202	0.0924908424908425	90	0.18292682926829268	22	0.06077348066298342	70	0.12237762237762238	20	0.026385224274406333	G	4.749	0.139295	0.09083	0.181571	0.011744	ENSG00000149634	ENST00000372519	T	0.59224	0.28	4.93	1.89	0.25635	.	0.254958	0.28349	N	0.015680	T	0.00109	0.0003	L	0.34521	1.04	0.58432	P	1.999999999946489E-6	B	0.24132	0.098	B	0.18871	0.023	T	0.04509	-1.0946	9	0.87932	D	0	-11.6784	5.9052	0.18992	0.1736:0.1577:0.6687:0.0	rs3827040;rs52798612;rs60326470;rs3827040	94	Q9BR10	CT165_HUMAN	L	94	ENSP00000361597:P94L	ENSP00000361597:P94L	P	-	2	0	C20orf165	43948966	0.738000	0.28186	0.000000	0.03702	0.075000	0.17131	3.143000	0.50608	0.263000	0.21812	-0.136000	0.14681	CCG	G|0.917;A|0.083		0.637	SPATA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079541.1		
SYCP2	10388	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	20	58450354	58450354	+	Silent	SNP	G	G	T			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr20:58450354G>T	ENST00000357552.3	-	34	3546	c.3321C>A	c.(3319-3321)ggC>ggA	p.G1107G	SYCP2_ENST00000371001.2_Silent_p.G1107G			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1107					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			ATGATGGACTGCCAGATAAAG	0.308																																					p.G1107G		.											.	SYCP2-525	0			c.C3321A						.						77.0	70.0	73.0					20																	58450354		2203	4299	6502	SO:0001819	synonymous_variant	10388	exon33			TGGACTGCCAGAT	Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.3321C>A	20.37:g.58450354G>T		52	0		69	6	NM_014258	0	0	0	0	0	A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Silent	SNP	ENST00000357552.3	37	CCDS13482.1																																																																																			.		0.308	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258	
RGS19	10287	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	62705725	62705725	+	Silent	SNP	C	C	T			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr20:62705725C>T	ENST00000395042.1	-	5	500	c.234G>A	c.(232-234)acG>acA	p.T78T	RGS19_ENST00000332298.5_Silent_p.T78T|RGS19_ENST00000493165.1_5'Flank	NM_005873.2	NP_005864.1	P49795	RGS19_HUMAN	regulator of G-protein signaling 19	78					autophagy (GO:0006914)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	brush border (GO:0005903)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.T78T(1)		lung(1)|prostate(1)|skin(1)	3	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					CAGGACTTGGCGTGGCACTGT	0.667																																					p.T78T		.											.	RGS19-227	1	Substitution - coding silent(1)	prostate(1)	c.G234A						.						24.0	23.0	23.0					20																	62705725		2203	4299	6502	SO:0001819	synonymous_variant	10287	exon5			ACTTGGCGTGGCA	X91809	CCDS13555.1	20q13.33	2007-08-14	2007-08-14		ENSG00000171700	ENSG00000171700		"""Regulators of G-protein signaling"""	13735	protein-coding gene	gene with protein product		605071	"""regulator of G-protein signalling 19"""			8524874	Standard	XM_005260183		Approved	GAIP, RGSGAIP	uc002yib.3	P49795	OTTHUMG00000033024	ENST00000395042.1:c.234G>A	20.37:g.62705725C>T		26	0		131	64	NM_005873	0	0	0	0	0	A8K216|E1P5G9|Q53XN0|Q8TD60	Silent	SNP	ENST00000395042.1	37	CCDS13555.1																																																																																			.		0.667	RGS19-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080273.1	NM_005873	
CLIC6	54102	hgsc.bcm.edu	37	21	36041978	36041978	+	Silent	SNP	A	A	G	rs7280973		TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr21:36041978A>G	ENST00000360731.3	+	1	291	c.291A>G	c.(289-291)caA>caG	p.Q97Q	CLIC6_ENST00000349499.2_Silent_p.Q97Q			Q96NY7	CLIC6_HUMAN	chloride intracellular channel 6	97						chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						AGGTGCCCCAAGGAGGGGAGG	0.796													G|||	5008	1.0	1.0	1.0	5008	,	,		8940	1.0		1.0	False		,,,				2504	1.0				p.Q97Q		.											.	CLIC6-91	0			c.A291G						.						2.0	2.0	2.0					21																	36041978		1056	2327	3383	SO:0001819	synonymous_variant	54102	exon1			GCCCCAAGGAGGG	AF426169	CCDS13638.1	21q22.12	2012-09-26			ENSG00000159212	ENSG00000159212		"""Ion channels / Chloride channels : Intracellular"""	2065	protein-coding gene	gene with protein product		615321		CLIC1L		10830953	Standard	NM_053277		Approved	CLIC5	uc002yuf.1	Q96NY7	OTTHUMG00000086237	ENST00000360731.3:c.291A>G	21.37:g.36041978A>G		0	0		4	4	NM_053277	0	0	0	0	0	A8K0U8|Q8IX31	Silent	SNP	ENST00000360731.3	37																																																																																				A|0.001;G|0.999		0.796	CLIC6-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000194156.1		
CLIC6	54102	hgsc.bcm.edu	37	21	36042579	36042579	+	Missense_Mutation	SNP	C	C	G	rs13049028	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr21:36042579C>G	ENST00000360731.3	+	1	892	c.892C>G	c.(892-894)Caa>Gaa	p.Q298E	CLIC6_ENST00000349499.2_Missense_Mutation_p.Q298E			Q96NY7	CLIC6_HUMAN	chloride intracellular channel 6	298						chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						TGAGCCGCAGCAATCGGGGGA	0.756													G|||	1116	0.222843	0.2648	0.1657	5008	,	,		8796	0.1825		0.2137	False		,,,				2504	0.2577				p.Q298E		.											.	CLIC6-91	0			c.C892G						.	G	GLU/GLN	454,2348		41,372,988	2.0	2.0	2.0		892	-0.8	0.0	21	dbSNP_121	2	925,5025		74,777,2124	no	missense	CLIC6	NM_053277.1	29	115,1149,3112	GG,GC,CC		15.5462,16.2027,15.7564	benign	298/687	36042579	1379,7373	1401	2975	4376	SO:0001583	missense	54102	exon1			CCGCAGCAATCGG	AF426169	CCDS13638.1	21q22.12	2012-09-26			ENSG00000159212	ENSG00000159212		"""Ion channels / Chloride channels : Intracellular"""	2065	protein-coding gene	gene with protein product		615321		CLIC1L		10830953	Standard	NM_053277		Approved	CLIC5	uc002yuf.1	Q96NY7	OTTHUMG00000086237	ENST00000360731.3:c.892C>G	21.37:g.36042579C>G	ENSP00000353959:p.Gln298Glu	0	0		13	13	NM_053277	0	0	0	0	0	A8K0U8|Q8IX31	Missense_Mutation	SNP	ENST00000360731.3	37		434	0.1987179487179487	125	0.2540650406504065	63	0.17403314917127072	81	0.14160839160839161	165	0.21767810026385223	G	0.195	-1.050076	0.01981	0.162027	0.155462	ENSG00000159212	ENST00000360731;ENST00000349499	T;T	0.21361	2.02;2.01	3.75	-0.792	0.10925	.	.	.	.	.	T	0.00012	0.0000	N	0.02539	-0.55	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43861	-0.9365	8	0.02654	T	1	-10.3162	7.3436	0.26650	0.1642:0.3831:0.4527:0.0	rs13049028	298;298	Q96NY7;Q96NY7-2	CLIC6_HUMAN;.	E	298	ENSP00000353959:Q298E;ENSP00000290332:Q298E	ENSP00000290332:Q298E	Q	+	1	0	CLIC6	34964449	0.256000	0.24012	0.012000	0.15200	0.009000	0.06853	0.804000	0.27098	-0.082000	0.12640	-0.676000	0.03789	CAA	C|0.802;G|0.198		0.756	CLIC6-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000194156.1		
CLIC6	54102	hgsc.bcm.edu	37	21	36042584	36042584	+	Silent	SNP	G	G	A	rs13049239	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr21:36042584G>A	ENST00000360731.3	+	1	897	c.897G>A	c.(895-897)tcG>tcA	p.S299S	CLIC6_ENST00000349499.2_Silent_p.S299S			Q96NY7	CLIC6_HUMAN	chloride intracellular channel 6	299						chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						CGCAGCAATCGGGGGACGGCA	0.751													A|||	1101	0.219848	0.2549	0.1628	5008	,	,		9144	0.1825		0.2137	False		,,,				2504	0.2577				p.S299S		.											.	CLIC6-91	0			c.G897A						.	A		412,2410		18,376,1017	2.0	2.0	2.0		897	-0.2	0.0	21	dbSNP_121	2	842,5136		42,758,2189	no	coding-synonymous	CLIC6	NM_053277.1		60,1134,3206	AA,AG,GG		14.085,14.5996,14.25		299/687	36042584	1254,7546	1411	2989	4400	SO:0001819	synonymous_variant	54102	exon1			GCAATCGGGGGAC	AF426169	CCDS13638.1	21q22.12	2012-09-26			ENSG00000159212	ENSG00000159212		"""Ion channels / Chloride channels : Intracellular"""	2065	protein-coding gene	gene with protein product		615321		CLIC1L		10830953	Standard	NM_053277		Approved	CLIC5	uc002yuf.1	Q96NY7	OTTHUMG00000086237	ENST00000360731.3:c.897G>A	21.37:g.36042584G>A		0	0		13	13	NM_053277	0	0	0	0	0	A8K0U8|Q8IX31	Silent	SNP	ENST00000360731.3	37																																																																																				G|0.803;A|0.197		0.751	CLIC6-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000194156.1		
U2AF1	7307	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	21	44524486	44524486	+	Missense_Mutation	SNP	A	A	G			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr21:44524486A>G	ENST00000291552.4	-	2	163	c.71T>C	c.(70-72)aTt>aCt	p.I24T	U2AF1_ENST00000486519.1_5'UTR|U2AF1_ENST00000398137.1_5'UTR|U2AF1_ENST00000380276.2_Missense_Mutation_p.I24T|U2AF1_ENST00000459639.1_5'UTR	NM_006758.2	NP_006749.1	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	24					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						ACATGCTCCAATTTTGAAATA	0.378			Mis		"""CLL, MDS"""																																p.I24T		.		Dom	yes		21	21q22.3	7307	U2 small nuclear RNA auxiliary factor 1		L	.	U2AF1-90	0			c.T71C						.						65.0	61.0	62.0					21																	44524486		2203	4300	6503	SO:0001583	missense	7307	exon2			GCTCCAATTTTGA	BC001177	CCDS13694.1, CCDS33574.1, CCDS42948.1	21q22.3	2014-09-17	2006-04-11		ENSG00000160201	ENSG00000160201		"""RNA binding motif (RRM) containing"""	12453	protein-coding gene	gene with protein product		191317	"""U2(RNU2) small nuclear RNA auxiliary factor binding protein"", ""U2(RNU2) small nuclear RNA auxiliary factor 1"""	U2AFBP		8660980, 7956352	Standard	NM_006758		Approved	U2AF35, RNU2AF1, RN	uc002zdb.1	Q01081	OTTHUMG00000086836	ENST00000291552.4:c.71T>C	21.37:g.44524486A>G	ENSP00000291552:p.Ile24Thr	137	0		125	44	NM_001025203	0	0	56	75	19	Q701P4|Q71RF1	Missense_Mutation	SNP	ENST00000291552.4	37	CCDS13694.1	.	.	.	.	.	.	.	.	.	.	A	18.85	3.710497	0.68730	.	.	ENSG00000160201	ENST00000380276;ENST00000291552	T;T	0.33216	1.42;1.42	5.47	5.47	0.80525	Zinc finger, CCCH-type (3);	0.000000	0.85682	D	0.000000	T	0.48750	0.1517	L	0.43646	1.37	0.80722	D	1	D;P;P	0.89917	1.0;0.623;0.756	D;P;P	0.91635	0.999;0.462;0.456	T	0.48725	-0.9010	10	0.66056	D	0.02	-13.1066	15.535	0.75996	1.0:0.0:0.0:0.0	.	24;24;24	Q69YM7;Q01081;Q701P4	.;U2AF1_HUMAN;.	T	24	ENSP00000369629:I24T;ENSP00000291552:I24T	ENSP00000291552:I24T	I	-	2	0	U2AF1	43397555	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.388000	0.90170	2.069000	0.61940	0.460000	0.39030	ATT	.		0.378	U2AF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195541.1	NM_006758	
KRTAP10-7	386675	broad.mit.edu	37	21	46020656	46020670	+	In_Frame_Del	DEL	CTGCTGCGCCCCCAG	CTGCTGCGCCCCCAG	-	rs36208679|rs60739860|rs373191083		TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr21:46020656_46020670delCTGCTGCGCCCCCAG	ENST00000380102.2	+	1	160_174	c.135_149delCTGCTGCGCCCCCAG	c.(133-150)ccctgctgcgcccccagc>ccc	p.CCAPS46del	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	46	30 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.S50_P54delSCCAP(1)		breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						GCGAGCCCCCCTGCTGCGCCCCCAGCTGCTGCGCC	0.698																																					.		.											.	.	1	Deletion - In frame(1)	upper_aerodigestive_tract(1)	.						.		,	2258,1042		849,560,241					,	-0.7	1.0		dbSNP_126	22	6001,1123		2605,791,166	no	coding,intron	TSPEAR,KRTAP10-7	NM_198689.2,NM_144991.2	,	3454,1351,407	A1A1,A1R,RR		15.7636,31.5758,20.7694	,	,		8259,2165				SO:0001651	inframe_deletion	386675	.			GCCCCCCTGCTGC	AJ566385	CCDS74803.1	21q22.3	2014-04-10			ENSG00000205441	ENSG00000272804		"""Keratin associated proteins"""	22970	protein-coding gene	gene with protein product				KRTAP18-7			Standard	NM_198689		Approved	KAP10.7, KAP18.7	uc002zfn.4	P60409	OTTHUMG00000188307	ENST00000380102.2:c.135_149delCTGCTGCGCCCCCAG	21.37:g.46020656_46020670delCTGCTGCGCCCCCAG	ENSP00000369445:p.Cys46_Ser50del	24	0		84	13	.	0	0	0	0	0	Q0VDJ8|Q70LJ2	Splice_Site	DEL	ENST00000380102.2	37																																																																																				.		0.698	KRTAP10-7-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000128038.1	NM_198689	
COL6A2	1292	hgsc.bcm.edu	37	21	47552201	47552201	+	Missense_Mutation	SNP	C	C	T	rs117725825	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr21:47552201C>T	ENST00000300527.4	+	28	2899	c.2795C>T	c.(2794-2796)cCg>cTg	p.P932L		NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	932	Nonhelical region.|VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.		P -> L (in BM; results in reduced intracellular collagen VI assembly and secretion). {ECO:0000269|PubMed:17886299}.		axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GTGCGCAGCCCGCGTGGCGGG	0.672													C|||	8	0.00159744	0.0008	0.0	5008	,	,		16002	0.0		0.004	False		,,,				2504	0.0031				p.P932L		.											.	COL6A2-515	0			c.C2795T	GRCh37	CM076126	COL6A2	M	rs117725825	.	C	LEU/PRO	2,4396		0,2,2197	25.0	27.0	26.0		2795	3.2	0.0	21	dbSNP_133	26	22,8572		0,22,4275	yes	missense	COL6A2	NM_001849.3	98	0,24,6472	TT,TC,CC		0.256,0.0455,0.1847	benign	932/1020	47552201	24,12968	2199	4297	6496	SO:0001583	missense	1292	exon28			GCAGCCCGCGTGG	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"""Collagens"""	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.2795C>T	21.37:g.47552201C>T	ENSP00000300527:p.Pro932Leu	6	0		82	58	NM_001849	0	0	139	340	201	Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Missense_Mutation	SNP	ENST00000300527.4	37	CCDS13728.1	.	.	.	.	.	.	.	.	.	.	C	0.633	-0.816505	0.02776	4.55E-4	0.00256	ENSG00000142173	ENST00000300527	T	0.77750	-1.12	4.18	3.18	0.36537	von Willebrand factor, type A (3);	0.918398	0.09162	U	0.840028	T	0.69504	0.3118	L	0.39898	1.24	0.09310	N	1	B	0.25441	0.126	B	0.22753	0.041	T	0.61426	-0.7065	10	0.62326	D	0.03	-9.7797	9.2761	0.37700	0.19:0.6816:0.1284:0.0	.	932	P12110	CO6A2_HUMAN	L	932	ENSP00000300527:P932L	ENSP00000300527:P932L	P	+	2	0	COL6A2	46376629	0.002000	0.14202	0.006000	0.13384	0.001000	0.01503	1.516000	0.35856	1.891000	0.54761	0.313000	0.20887	CCG	C|0.998;T|0.002		0.672	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1		
MN1	4330	hgsc.bcm.edu	37	22	28194895	28194900	+	In_Frame_Del	DEL	TGCTGT	TGCTGT	-	rs202212250|rs530519178	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	TGCTGT	TGCTGT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr22:28194895_28194900delTGCTGT	ENST00000302326.4	-	1	2586_2591	c.1632_1637delACAGCA	c.(1630-1638)caacagcag>cag	p.544_546QQQ>Q		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	544	Poly-Gln.				intramembranous ossification (GO:0001957)					NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						ctgctgctgctgctgttgctgttgct	0.646			T	ETV6	"""AML, meningioma"""																																p.544_546del		.		Dom	yes		22	22q13	4330	meningioma (disrupted in balanced translocation) 1		"""L, O"""	.	MN1-993	0			c.1632_1637del						.			149,3245		28,93,1576						0.6	1.0		dbSNP_131	5	263,6801		42,179,3311	no	coding	MN1	NM_002430.2		70,272,4887	A1A1,A1R,RR		3.7231,4.3901,3.9396				412,10046				SO:0001651	inframe_deletion	4330	exon1			TGCTGCTGCTGTT	X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"""probable tumor suppressor protein MN1"""	156100	"""meningioma chromosome region"""	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.1632_1637delACAGCA	22.37:g.28194901_28194906delTGCTGT	ENSP00000304956:p.Gln548_Gln549del	8	0		33	26	NM_002430	0	0	0	0	0	A9Z1V9	In_Frame_Del	DEL	ENST00000302326.4	37	CCDS42998.1																																																																																			.		0.646	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430	
TTC28	23331	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	22	28503713	28503713	+	Missense_Mutation	SNP	A	A	G			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr22:28503713A>G	ENST00000397906.2	-	7	2261	c.2120T>C	c.(2119-2121)cTg>cCg	p.L707P		NM_001145418.1	NP_001138890.1	Q96AY4	TTC28_HUMAN	tetratricopeptide repeat domain 28	707					mitotic nuclear division (GO:0007067)|regulation of mitotic cell cycle (GO:0007346)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)				endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)	12						GGAATTATTCAGAGACTGGGC	0.423																																					p.L707P		.											.	.	0			c.T2120C						.						56.0	47.0	50.0					22																	28503713		692	1591	2283	SO:0001583	missense	23331	exon7			TTATTCAGAGACT	AB028966	CCDS46678.1	22q12.1	2013-01-10			ENSG00000100154	ENSG00000100154		"""Tetratricopeptide (TTC) repeat domain containing"""	29179	protein-coding gene	gene with protein product		615098				10470851	Standard	NM_001145418		Approved	KIAA1043	uc003adp.4	Q96AY4	OTTHUMG00000151006	ENST00000397906.2:c.2120T>C	22.37:g.28503713A>G	ENSP00000381003:p.Leu707Pro	89	1		69	59	NM_001145418	0	0	0	0	0	K7ZRV2|O95928|O95929|Q5W189|Q9NTE4|Q9UG31|Q9UGG5|Q9UPV8|Q9Y3S5	Missense_Mutation	SNP	ENST00000397906.2	37	CCDS46678.1	.	.	.	.	.	.	.	.	.	.	A	17.43	3.387171	0.61956	.	.	ENSG00000100154	ENST00000397906	T	0.78595	-1.19	5.79	5.79	0.91817	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.64402	D	0.000007	D	0.88533	0.6462	M	0.84511	2.7	0.80722	D	1	D	0.65815	0.995	D	0.66847	0.947	D	0.89745	0.3936	10	0.56958	D	0.05	-13.8792	15.3166	0.74085	1.0:0.0:0.0:0.0	.	707	Q96AY4	TTC28_HUMAN	P	707	ENSP00000381003:L707P	ENSP00000381003:L707P	L	-	2	0	TTC28	26833713	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.737000	0.91562	2.207000	0.71202	0.533000	0.62120	CTG	.		0.423	TTC28-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000320930.2	XM_929318	
RHBDD3	25807	bcgsc.ca	37	22	29656389	29656389	+	Silent	SNP	G	G	T	rs2231398	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr22:29656389G>T	ENST00000216085.7	-	6	1333	c.909C>A	c.(907-909)gcC>gcA	p.A303A	CTA-984G1.5_ENST00000433125.1_RNA	NM_012265.1	NP_036397.1	Q9Y3P4	RHBD3_HUMAN	rhomboid domain containing 3	303					liver development (GO:0001889)|MAPK cascade (GO:0000165)|negative regulation of natural killer cell activation (GO:0032815)|positive regulation of protein catabolic process (GO:0045732)|regulation of acute inflammatory response (GO:0002673)|regulation of protein secretion (GO:0050708)|response to xenobiotic stimulus (GO:0009410)	integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			lung(1)|ovary(1)	2						CAAGAAGCGAGGCCTGGATGC	0.667													G|||	858	0.171326	0.1006	0.245	5008	,	,		17314	0.0397		0.3608	False		,,,				2504	0.1554				p.A303A		.											.	RHBDD3-91	0			c.C909A						.	G		631,3775		46,539,1618	24.0	23.0	23.0		909	0.6	1.0	22	dbSNP_98	23	3246,5352		622,2002,1675	no	coding-synonymous	RHBDD3	NM_012265.1		668,2541,3293	TT,TG,GG		37.753,14.3214,29.8139		303/387	29656389	3877,9127	2203	4299	6502	SO:0001819	synonymous_variant	25807	exon6			AAGCGAGGCCTGG	AL050346	CCDS13850.1	22q12.2	2006-02-22	2006-02-22	2006-02-22	ENSG00000100263	ENSG00000100263			1308	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 3"""	C22orf3		10591208, 15105437	Standard	NM_012265		Approved	PTAG	uc003aeq.1	Q9Y3P4	OTTHUMG00000151032	ENST00000216085.7:c.909C>A	22.37:g.29656389G>T		88	1		78	5	NM_012265	0	0	22	22	0	Q6I9X3|Q9UGQ7	Silent	SNP	ENST00000216085.7	37	CCDS13850.1																																																																																			G|0.749;T|0.251		0.667	RHBDD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321085.1	NM_012265	
SEC14L4	284904	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	22	30887672	30887672	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr22:30887672C>G	ENST00000255858.7	-	11	1052	c.969G>C	c.(967-969)aaG>aaC	p.K323N	SEC14L4_ENST00000381982.3_Missense_Mutation_p.K323N|RP4-539M6.14_ENST00000442126.1_RNA|SEC14L4_ENST00000540456.1_Missense_Mutation_p.K308N|RP4-539M6.14_ENST00000610156.1_RNA|SEC14L4_ENST00000392772.2_Missense_Mutation_p.K269N	NM_001161368.1|NM_174977.3	NP_001154840.1|NP_777637.1	Q9UDX3	S14L4_HUMAN	SEC14-like 4 (S. cerevisiae)	323	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	GCTCCCCCATCTTGGTCTTCA	0.617																																					p.K323N		.											.	SEC14L4-91	0			c.G969C						.						97.0	89.0	92.0					22																	30887672		2203	4300	6503	SO:0001583	missense	284904	exon11			CCCCATCTTGGTC	AY158085	CCDS13878.1, CCDS54517.1	22q12.1	2003-03-10			ENSG00000133488	ENSG00000133488			20627	protein-coding gene	gene with protein product		612825					Standard	NM_174977		Approved	TAP3, dJ130H16.5	uc003aid.2	Q9UDX3	OTTHUMG00000151258	ENST00000255858.7:c.969G>C	22.37:g.30887672C>G	ENSP00000255858:p.Lys323Asn	104	0		75	6	NM_001161368	0	0	0	0	0	A5D6W7|A6NCV4	Missense_Mutation	SNP	ENST00000255858.7	37	CCDS13878.1	.	.	.	.	.	.	.	.	.	.	C	11.30	1.597039	0.28445	.	.	ENSG00000133488	ENST00000255858;ENST00000540456;ENST00000392772;ENST00000381982	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	4.73	3.71	0.42584	GOLD (2);	0.152280	0.56097	D	0.000022	T	0.30727	0.0774	L	0.34521	1.04	0.80722	D	1	B;B;B	0.18968	0.004;0.032;0.005	B;B;B	0.16722	0.003;0.014;0.016	T	0.11275	-1.0594	10	0.46703	T	0.11	-3.0123	9.5751	0.39452	0.0:0.8365:0.0:0.1635	.	269;308;323	B3KSF0;G3V1L4;Q9UDX3	.;.;S14L4_HUMAN	N	323;308;269;323	ENSP00000255858:K323N;ENSP00000440848:K308N;ENSP00000376525:K269N;ENSP00000371412:K323N	ENSP00000255858:K323N	K	-	3	2	SEC14L4	29217672	0.007000	0.16637	0.964000	0.40570	0.785000	0.44390	0.146000	0.16180	1.359000	0.45940	-0.216000	0.12614	AAG	.		0.617	SEC14L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321946.1	NM_174977	
CARD10	29775	hgsc.bcm.edu	37	22	37915145	37915145	+	Silent	SNP	C	C	T	rs79861380	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr22:37915145C>T	ENST00000403299.1	-	2	279	c.63G>A	c.(61-63)gaG>gaA	p.E21E	CARD10_ENST00000251973.5_Silent_p.E21E			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	21					activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein complex assembly (GO:0006461)|regulation of apoptotic process (GO:0042981)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)	receptor signaling complex scaffold activity (GO:0030159)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					cctcctccgcctcagaccccg	0.756													C|||	295	0.0589058	0.1573	0.0548	5008	,	,		9486	0.0		0.0398	False		,,,				2504	0.0092				p.E21E		.											.	CARD10-662	0			c.G63A						.	C		625,3669		33,559,1555	8.0	9.0	9.0		63	3.9	1.0	22	dbSNP_131	9	324,8168		4,316,3926	no	coding-synonymous	CARD10	NM_014550.3		37,875,5481	TT,TC,CC		3.8154,14.5552,7.4222		21/1033	37915145	949,11837	2147	4246	6393	SO:0001819	synonymous_variant	29775	exon1			CTCCGCCTCAGAC	AF086324	CCDS13948.1	22q13.1	2008-05-22			ENSG00000100065	ENSG00000100065			16422	protein-coding gene	gene with protein product		607209				11259443, 11356195	Standard	NM_014550		Approved	CARMA3, BIMP1	uc003asu.1	Q9BWT7	OTTHUMG00000150592	ENST00000403299.1:c.63G>A	22.37:g.37915145C>T		0	0		11	11	NM_014550	0	0	0	0	0	Q14CQ8|Q5TFG6|Q8NC81|Q9UGR5|Q9UGR6|Q9Y3H0	Silent	SNP	ENST00000403299.1	37	CCDS13948.1																																																																																			C|0.935;T|0.065		0.756	CARD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318997.1	NM_014550	
TCF20	6942	broad.mit.edu	37	22	42609400	42609400	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr22:42609400G>T	ENST00000359486.3	-	1	2048	c.1912C>A	c.(1912-1914)Cca>Aca	p.P638T	TCF20_ENST00000335626.4_Missense_Mutation_p.P638T	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	638					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						TTGCTAGGTGGCCTTTGAGTG	0.547																																					p.P638T		.											.	TCF20-95	0			c.C1912A						.						72.0	65.0	67.0					22																	42609400		2203	4300	6503	SO:0001583	missense	6942	exon1			TAGGTGGCCTTTG	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.1912C>A	22.37:g.42609400G>T	ENSP00000352463:p.Pro638Thr	112	1		94	5	NM_181492	0	0	1	1	0	A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	ENST00000359486.3	37	CCDS14033.1	.	.	.	.	.	.	.	.	.	.	G	14.14	2.446021	0.43429	.	.	ENSG00000100207	ENST00000359486;ENST00000335626	T;T	0.61627	0.09;0.09	6.17	6.17	0.99709	.	0.092025	0.48286	D	0.000186	T	0.50017	0.1591	N	0.19112	0.55	0.80722	D	1	P;P	0.49559	0.925;0.877	P;B	0.49752	0.621;0.417	T	0.43637	-0.9379	10	0.33940	T	0.23	-11.2399	11.988	0.53159	0.0:0.1305:0.7341:0.1354	.	638;638	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	T	638	ENSP00000352463:P638T;ENSP00000335561:P638T	ENSP00000335561:P638T	P	-	1	0	TCF20	40939344	0.998000	0.40836	1.000000	0.80357	0.936000	0.57629	2.534000	0.45676	2.941000	0.99782	0.655000	0.94253	CCA	.		0.547	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492	
PNPLA3	80339	bcgsc.ca	37	22	44322922	44322922	+	Missense_Mutation	SNP	T	T	G	rs2076213	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr22:44322922T>G	ENST00000216180.3	+	2	468	c.295T>G	c.(295-297)Tgc>Ggc	p.C99G	PNPLA3_ENST00000478713.1_3'UTR|PNPLA3_ENST00000423180.2_Missense_Mutation_p.C95G	NM_025225.2	NP_079501.2	Q9NST1	PLPL3_HUMAN	patatin-like phospholipase domain containing 3	99	Patatin.		C -> G (in dbSNP:rs2076213). {ECO:0000269|PubMed:15489334}.		acylglycerol acyl-chain remodeling (GO:0036155)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride catabolic process (GO:0019433)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	diolein transacylation activity (GO:0051265)|mono-olein transacylation activity (GO:0051264)|phospholipase A2 activity (GO:0004623)|triglyceride lipase activity (GO:0004806)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|prostate(1)|skin(1)|stomach(2)	19		Ovarian(80;0.024)|all_neural(38;0.0416)				ACAGGGTCTCTGCAAATGCCT	0.522													T|||	362	0.0722843	0.0393	0.1628	5008	,	,		20589	0.0268		0.0855	False		,,,				2504	0.0859				p.C99G		.											.	PNPLA3-90	0			c.T295G						.	T	GLY/CYS	203,4203	126.6+/-163.6	3,197,2003	91.0	79.0	83.0		295	-2.1	0.0	22	dbSNP_96	83	838,7762	192.3+/-238.3	38,762,3500	yes	missense	PNPLA3	NM_025225.2	159	41,959,5503	GG,GT,TT		9.7442,4.6074,8.004	benign	99/482	44322922	1041,11965	2203	4300	6503	SO:0001583	missense	80339	exon2			GGTCTCTGCAAAT		CCDS14054.1	22q13.31	2014-03-14	2006-05-26	2006-05-26	ENSG00000100344	ENSG00000100344	3.1.1.3	"""Patatin-like phospholipase domain containing"""	18590	protein-coding gene	gene with protein product		609567	"""chromosome 22 open reading frame 20"", ""adiponutrin"""	C22orf20, ADPN		16799181, 19029121	Standard	NM_025225		Approved	dJ796I17.1, FLJ22012, adiponutrin, iPLA2epsilon	uc003bei.1	Q9NST1	OTTHUMG00000150555	ENST00000216180.3:c.295T>G	22.37:g.44322922T>G	ENSP00000216180:p.Cys99Gly	160	0		115	8	NM_025225	0	0	0	0	0	B0QYI0|B2RCL3|B3KW00|Q6P1A1|Q96CB4	Missense_Mutation	SNP	ENST00000216180.3	37	CCDS14054.1	166	0.076007326007326	21	0.042682926829268296	61	0.1685082872928177	19	0.033216783216783216	65	0.08575197889182058	T	7.556	0.663724	0.14710	0.046074	0.097442	ENSG00000100344	ENST00000216180;ENST00000423180	T;T	0.78816	-1.21;-0.99	5.68	-2.13	0.07144	Acyl transferase/acyl hydrolase/lysophospholipase (1);Patatin/Phospholipase A2-related (1);	1.465370	0.03714	N	0.250817	T	0.00144	0.0004	N	0.01048	-1.04	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.03306	-1.1050	9	0.25751	T	0.34	-1.4464	0.6504	0.00826	0.2984:0.2845:0.1077:0.3094	rs2076213;rs17493955;rs17855951;rs57129774;rs2076213	99	Q9NST1	PLPL3_HUMAN	G	99;95	ENSP00000216180:C99G;ENSP00000397987:C95G	ENSP00000216180:C99G	C	+	1	0	PNPLA3	42654255	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.512000	0.06313	0.008000	0.14787	-0.263000	0.10527	TGC	T|0.735;G|0.060;C|0.016;A|0.189		0.522	PNPLA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318891.1	NM_025225	
PNPLA3	80339	bcgsc.ca	37	22	44322970	44322970	+	Missense_Mutation	SNP	G	G	T	rs2076212	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr22:44322970G>T	ENST00000216180.3	+	2	516	c.343G>T	c.(343-345)Ggc>Tgc	p.G115C	PNPLA3_ENST00000478713.1_3'UTR|PNPLA3_ENST00000423180.2_Missense_Mutation_p.G111C	NM_025225.2	NP_079501.2	Q9NST1	PLPL3_HUMAN	patatin-like phospholipase domain containing 3	115	Patatin.		G -> C (in dbSNP:rs2076212). {ECO:0000269|PubMed:14702039}.		acylglycerol acyl-chain remodeling (GO:0036155)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride catabolic process (GO:0019433)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	diolein transacylation activity (GO:0051265)|mono-olein transacylation activity (GO:0051264)|phospholipase A2 activity (GO:0004623)|triglyceride lipase activity (GO:0004806)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|prostate(1)|skin(1)|stomach(2)	19		Ovarian(80;0.024)|all_neural(38;0.0416)				CGGCAAAATAGGCATCTCTCT	0.502													T|||	610	0.121805	0.1513	0.1095	5008	,	,		22640	0.0694		0.1262	False		,,,				2504	0.1401				p.G115C		.											.	PNPLA3-90	0			c.G343T						.	T	CYS/GLY	697,3709	760.4+/-413.0	49,599,1555	88.0	78.0	81.0		343	-6.8	0.0	22	dbSNP_96	81	1155,7445	765.9+/-407.6	78,999,3223	yes	missense	PNPLA3	NM_025225.2	159	127,1598,4778	TT,TG,GG		13.4302,15.8193,14.2396	benign	115/482	44322970	1852,11154	2203	4300	6503	SO:0001583	missense	80339	exon2			AAAATAGGCATCT		CCDS14054.1	22q13.31	2014-03-14	2006-05-26	2006-05-26	ENSG00000100344	ENSG00000100344	3.1.1.3	"""Patatin-like phospholipase domain containing"""	18590	protein-coding gene	gene with protein product		609567	"""chromosome 22 open reading frame 20"", ""adiponutrin"""	C22orf20, ADPN		16799181, 19029121	Standard	NM_025225		Approved	dJ796I17.1, FLJ22012, adiponutrin, iPLA2epsilon	uc003bei.1	Q9NST1	OTTHUMG00000150555	ENST00000216180.3:c.343G>T	22.37:g.44322970G>T	ENSP00000216180:p.Gly115Cys	215	0		175	10	NM_025225	0	0	0	0	0	B0QYI0|B2RCL3|B3KW00|Q6P1A1|Q96CB4	Missense_Mutation	SNP	ENST00000216180.3	37	CCDS14054.1	240	0.10989010989010989	70	0.14227642276422764	47	0.1298342541436464	36	0.06293706293706294	87	0.11477572559366754	T	1.886	-0.456571	0.04540	0.158193	0.134302	ENSG00000100344	ENST00000216180;ENST00000423180	T;T	0.77229	-1.08;-1.08	5.5	-6.85	0.01681	Acyl transferase/acyl hydrolase/lysophospholipase (1);Patatin/Phospholipase A2-related (1);	1.730350	0.03006	N	0.148858	T	0.00241	0.0007	N	0.02357	-0.585	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.03898	-1.0994	9	0.27785	T	0.31	-4.7916	6.1878	0.20508	0.1592:0.0569:0.4581:0.3258	rs2076212;rs17493969;rs59332912;rs2076212	115	Q9NST1	PLPL3_HUMAN	C	115;111	ENSP00000216180:G115C;ENSP00000397987:G111C	ENSP00000216180:G115C	G	+	1	0	PNPLA3	42654303	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.199000	0.09491	-1.567000	0.01671	-0.269000	0.10298	GGC	G|0.868;T|0.132		0.502	PNPLA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318891.1	NM_025225	
CNTN4	152330	broad.mit.edu;bcgsc.ca	37	3	3030028	3030028	+	Splice_Site	SNP	G	G	A			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr3:3030028G>A	ENST00000397461.1	+	13	1742		c.e13-1		CNTN4_ENST00000448906.2_Splice_Site|CNTN4_ENST00000397459.2_Splice_Site|CNTN4_ENST00000475817.1_Splice_Site|CNTN4_ENST00000358480.3_Splice_Site|CNTN4_ENST00000427331.1_Splice_Site|CNTN4_ENST00000418658.1_Splice_Site	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4						axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TTTGATTTCAGAATTACCATT	0.338																																					.		.											.	CNTN4-344	0			c.1359-1G>A						.						65.0	65.0	65.0					3																	3030028		2203	4300	6503	SO:0001630	splice_region_variant	152330	exon14			ATTTCAGAATTAC	AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.1359-1G>A	3.37:g.3030028G>A		49	1		60	5	NM_175607	0	0	0	0	0	B2RAX3|Q8IX14|Q8TC35	Splice_Site	SNP	ENST00000397461.1	37	CCDS43041.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.553774	0.86231	.	.	ENSG00000144619	ENST00000418658;ENST00000397461;ENST00000427331;ENST00000358480;ENST00000397459;ENST00000448906	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3626	0.98863	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CNTN4	3005028	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.191000	0.94940	2.885000	0.99019	0.655000	0.94253	.	.		0.338	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2		Intron
LRRC3B	116135	bcgsc.ca	37	3	26751493	26751493	+	Silent	SNP	A	A	T	rs35497952	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr3:26751493A>T	ENST00000396641.2	+	2	922	c.330A>T	c.(328-330)ggA>ggT	p.G110G	LRRC3B_ENST00000456208.2_Silent_p.G110G|LRRC3B_ENST00000417744.1_Silent_p.G110G|AC114877.3_ENST00000446601.1_lincRNA	NM_052953.2	NP_443185.1	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B	110						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						CCTTCAAAGGAGTAGCTGAAA	0.438													A|||	739	0.147564	0.1036	0.1556	5008	,	,		21624	0.2421		0.0805	False		,,,				2504	0.1728				p.G110G		.											.	LRRC3B-94	0			c.A330T						.	A		439,3967	212.5+/-232.4	20,399,1784	65.0	62.0	63.0		330	-4.1	0.9	3	dbSNP_126	63	764,7836	181.8+/-230.4	43,678,3579	no	coding-synonymous	LRRC3B	NM_052953.2		63,1077,5363	TT,TA,AA		8.8837,9.9637,9.2496		110/260	26751493	1203,11803	2203	4300	6503	SO:0001819	synonymous_variant	116135	exon2			CAAAGGAGTAGCT	AF396933	CCDS2644.1	3p24	2004-07-12			ENSG00000179796	ENSG00000179796			28105	protein-coding gene	gene with protein product							Standard	NM_052953		Approved	LRP15	uc003cdp.3	Q96PB8	OTTHUMG00000130572	ENST00000396641.2:c.330A>T	3.37:g.26751493A>T		89	0		117	6	NM_052953	0	0	0	0	0	Q5M8T0	Silent	SNP	ENST00000396641.2	37	CCDS2644.1																																																																																			A|0.899;T|0.101		0.438	LRRC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252997.2	NM_052953	
FAM3D	131177	broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	58631299	58631299	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr3:58631299G>A	ENST00000358781.2	-	5	510	c.200C>T	c.(199-201)gCg>gTg	p.A67V		NM_138805.2	NP_620160.1	Q96BQ1	FAM3D_HUMAN	family with sequence similarity 3, member D	67					negative regulation of insulin secretion (GO:0046676)	extracellular region (GO:0005576)	cytokine activity (GO:0005125)			large_intestine(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(55;0.000225)|Kidney(10;0.000667)|KIRC - Kidney renal clear cell carcinoma(10;0.000802)|OV - Ovarian serous cystadenocarcinoma(275;0.169)		GATTTTAAACGCAAAGTAGTT	0.488																																					p.A67V		.											.	FAM3D-90	0			c.C200T						.						57.0	53.0	54.0					3																	58631299		2203	4300	6503	SO:0001583	missense	131177	exon5			TTAAACGCAAAGT	AF494381	CCDS2893.1	3p21.1	2008-07-18			ENSG00000198643	ENSG00000198643			18665	protein-coding gene	gene with protein product		608619				12160727	Standard	NM_138805		Approved	EF7, OIT1	uc003dkq.3	Q96BQ1	OTTHUMG00000159148	ENST00000358781.2:c.200C>T	3.37:g.58631299G>A	ENSP00000351632:p.Ala67Val	129	2		102	59	NM_138805	0	0	0	0	0	Q547G2	Missense_Mutation	SNP	ENST00000358781.2	37	CCDS2893.1	.	.	.	.	.	.	.	.	.	.	G	14.95	2.688521	0.48097	.	.	ENSG00000198643	ENST00000358781;ENST00000483787;ENST00000489857;ENST00000498347	T;T;T;T	0.23950	1.88;1.88;1.88;1.88	5.09	5.09	0.68999	.	0.162759	0.42172	D	0.000759	T	0.54111	0.1838	M	0.83953	2.67	0.42123	D	0.991436	D	0.89917	1.0	D	0.68483	0.958	T	0.61554	-0.7039	10	0.87932	D	0	-20.2881	16.3412	0.83082	0.0:0.0:1.0:0.0	.	67	Q96BQ1	FAM3D_HUMAN	V	67;66;30;67	ENSP00000351632:A67V;ENSP00000417099:A66V;ENSP00000417453:A30V;ENSP00000418982:A67V	ENSP00000351632:A67V	A	-	2	0	FAM3D	58606339	0.814000	0.29104	0.031000	0.17742	0.021000	0.10359	4.144000	0.58057	2.507000	0.84556	0.591000	0.81541	GCG	.		0.488	FAM3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353494.1	NM_138805	
ADAMTS9	56999	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	64536626	64536626	+	Missense_Mutation	SNP	C	C	T	rs374354849		TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr3:64536626C>T	ENST00000498707.1	-	31	5153	c.4811G>A	c.(4810-4812)cGt>cAt	p.R1604H	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.R1576H	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1604	TSP type-1 13. {ECO:0000255|PROSITE- ProRule:PRU00210}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		ACAGCTTTCACGGTCCACCGG	0.572																																					p.R1604H		.											.	ADAMTS9-230	0			c.G4811A						.	C	HIS/ARG	0,4406		0,0,2203	196.0	156.0	169.0		4811	-1.8	0.0	3		169	1,8599	1.2+/-3.3	0,1,4299	no	missense	ADAMTS9	NM_182920.1	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	1604/1936	64536626	1,13005	2203	4300	6503	SO:0001583	missense	56999	exon31			CTTTCACGGTCCA	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.4811G>A	3.37:g.64536626C>T	ENSP00000418735:p.Arg1604His	191	0		178	101	NM_182920	0	0	0	0	0	A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	ENST00000498707.1	37	CCDS2903.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.098|0.098	-1.156236|-1.156236	0.01686|0.01686	0.0|0.0	1.16E-4|1.16E-4	ENSG00000163638|ENSG00000163638	ENST00000295903;ENST00000498707|ENST00000481060	T;T|.	0.53423|.	0.62;0.62|.	5.69|5.69	-1.79|-1.79	0.07932|0.07932	.|.	0.838294|.	0.10738|.	N|.	0.639824|.	T|T	0.43853|0.43853	0.1266|0.1266	M|M	0.71581|0.71581	2.175|2.175	0.09310|0.09310	N|N	1|1	B;B;B|.	0.11235|.	0.003;0.004;0.002|.	B;B;B|.	0.08055|.	0.003;0.002;0.003|.	T|T	0.41928|0.41928	-0.9481|-0.9481	10|5	0.42905|.	T|.	0.14|.	.|.	5.9462|5.9462	0.19219|0.19219	0.3492:0.3519:0.0:0.299|0.3492:0.3519:0.0:0.299	.|.	1576;1604;1604|.	B7ZVX9;Q9P2N4-1;Q9P2N4|.	.;.;ATS9_HUMAN|.	H|M	1576;1604|660	ENSP00000295903:R1576H;ENSP00000418735:R1604H|.	ENSP00000295903:R1576H|.	R|V	-|-	2|1	0|0	ADAMTS9|ADAMTS9	64511666|64511666	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	-0.476000|-0.476000	0.06591|0.06591	-1.132000|-1.132000	0.02907|0.02907	-2.615000|-2.615000	0.00158|0.00158	CGT|GTG	.		0.572	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1		
TSC22D2	9819	hgsc.bcm.edu	37	3	150128392	150128392	+	Missense_Mutation	SNP	G	G	A	rs879634	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr3:150128392G>A	ENST00000361875.3	+	1	2271	c.1255G>A	c.(1255-1257)Gct>Act	p.A419T	TSC22D2_ENST00000361136.2_Missense_Mutation_p.A419T	NM_014779.2	NP_055594.1	O75157	T22D2_HUMAN	TSC22 domain family, member 2	419			A -> T (in dbSNP:rs879634).		response to osmotic stress (GO:0006970)		sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CGGCCAGAATGCTTCCTCGGT	0.771													G|||	952	0.190096	0.2224	0.1657	5008	,	,		13018	0.0407		0.2724	False		,,,				2504	0.2331				p.A419T		.											.	TSC22D2-91	0			c.G1255A						.	G	THR/ALA	435,2751		29,377,1187	2.0	3.0	3.0		1255	1.5	0.0	3	dbSNP_86	3	1458,5444		170,1118,2163	yes	missense	TSC22D2	NM_014779.2	58	199,1495,3350	AA,AG,GG		21.1243,13.6535,18.7649	benign	419/781	150128392	1893,8195	1593	3451	5044	SO:0001583	missense	9819	exon1			CAGAATGCTTCCT	AB014569	CCDS3149.1	3q25.1	2005-03-01			ENSG00000196428	ENSG00000196428			29095	protein-coding gene	gene with protein product						9734811	Standard	NM_014779		Approved	KIAA0669, TILZ4a, TILZ4b, TILZ4c	uc003exv.3	O75157	OTTHUMG00000159744	ENST00000361875.3:c.1255G>A	3.37:g.150128392G>A	ENSP00000354543:p.Ala419Thr	0	0		12	8	NM_014779	0	0	0	0	0	D3DNI5|Q6PI50|Q9H2Z6|Q9H2Z7|Q9H2Z8	Missense_Mutation	SNP	ENST00000361875.3	37	CCDS3149.1	433	0.19826007326007325	126	0.25609756097560976	72	0.19889502762430938	23	0.04020979020979021	212	0.2796833773087071	G	1.438	-0.568481	0.03910	0.136535	0.211243	ENSG00000196428	ENST00000361875;ENST00000361136	T;T	0.30182	1.54;1.54	3.57	1.47	0.22746	.	0.687211	0.12935	N	0.427041	T	0.00012	0.0000	N	0.19112	0.55	0.80722	P	0.0	B;B	0.10296	0.003;0.001	B;B	0.09377	0.004;0.002	T	0.33599	-0.9862	9	0.51188	T	0.08	.	6.993	0.24765	0.0:0.4503:0.379:0.1707	rs879634;rs3749399;rs58335631	419;419	O75157-2;O75157	.;T22D2_HUMAN	T	419	ENSP00000354543:A419T;ENSP00000354893:A419T	ENSP00000354893:A419T	A	+	1	0	TSC22D2	151611082	0.002000	0.14202	0.001000	0.08648	0.002000	0.02628	0.305000	0.19254	0.805000	0.34159	0.557000	0.71058	GCT	G|0.797;A|0.203		0.771	TSC22D2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357123.2	NM_014779	
MUC4	4585	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	3	195508392	195508392	+	Silent	SNP	T	T	A			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr3:195508392T>A	ENST00000463781.3	-	2	10518	c.10059A>T	c.(10057-10059)gtA>gtT	p.V3353V	MUC4_ENST00000475231.1_Silent_p.V3353V|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GACCTGTGGATACTGAGGAAG	0.597																																					p.V3353V		.											.	MUC4-90	0			c.A10059T						.						38.0	30.0	32.0					3																	195508392		689	1584	2273	SO:0001819	synonymous_variant	4585	exon2			TGTGGATACTGAG	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.10059A>T	3.37:g.195508392T>A		624	1		691	112	NM_018406	0	0	0	0	0	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	ENST00000463781.3	37	CCDS54700.1																																																																																			.		0.597	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
TNK2	10188	hgsc.bcm.edu	37	3	195594805	195594805	+	Silent	SNP	A	A	G	rs1056749	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr3:195594805A>G	ENST00000333602.6	-	12	2936	c.2319T>C	c.(2317-2319)gcT>gcC	p.A773A	TNK2_ENST00000428187.1_Silent_p.A805A|TNK2_ENST00000381916.2_Silent_p.A851A|TNK2_ENST00000392400.1_Silent_p.A773A	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	773	EBD domain. {ECO:0000250}.|Pro-rich.			Missing (in Ref. 4; AAH08884). {ECO:0000305}.	cell surface receptor signaling pathway (GO:0007166)|endocytosis (GO:0006897)|negative regulation of catalytic activity (GO:0043086)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of clathrin-mediated endocytosis (GO:2000369)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endosome (GO:0005768)|Grb2-EGFR complex (GO:0070436)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|WW domain binding (GO:0050699)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	GGGGAGGGGAAGCAGGTCCAG	0.746													a|||	593	0.118411	0.1505	0.0865	5008	,	,		11184	0.0327		0.175	False		,,,				2504	0.1278				p.A851A		.											.	TNK2-957	0			c.T2553C						.		,	451,3449		26,399,1525	5.0	7.0	6.0		2553,2319	-1.4	0.8	3	dbSNP_86	6	1067,6843		74,919,2962	no	coding-synonymous,coding-synonymous	TNK2	NM_001010938.1,NM_005781.4	,	100,1318,4487	GG,GA,AA		13.4893,11.5641,12.8535	,	851/1087,773/1039	195594805	1518,10292	1950	3955	5905	SO:0001819	synonymous_variant	10188	exon13			AGGGGAAGCAGGT	L13738	CCDS33927.1, CCDS33928.1	3q29	2013-09-02			ENSG00000061938	ENSG00000061938			19297	protein-coding gene	gene with protein product	"""activated Cdc42-associated kinase 1"""	606994				8497321, 14506255	Standard	XM_006713460		Approved	p21cdc42Hs, ACK, ACK1	uc003fvt.1	Q07912	OTTHUMG00000155737	ENST00000333602.6:c.2319T>C	3.37:g.195594805A>G		0	0		18	7	NM_001010938	0	0	3	5	2	Q6ZMQ0|Q8N6U7|Q96H59	Silent	SNP	ENST00000333602.6	37	CCDS33928.1																																																																																			A|0.886;G|0.114		0.746	TNK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341437.3	NM_005781	
CRIPAK	285464	hgsc.bcm.edu	37	4	1388755	1388755	+	Silent	SNP	C	C	G	rs373946226	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr4:1388755C>G	ENST00000324803.4	+	1	3416	c.456C>G	c.(454-456)ccC>ccG	p.P152P		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	152					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CACACGTGCCCATGCGGAGTG	0.697													N|||	566	0.113019	0.0772	0.1657	5008	,	,		16075	0.0139		0.1441	False		,,,				2504	0.1943				p.P152P		.											.	CRIPAK-90	0			c.C456G						.						75.0	67.0	69.0					4																	1388755		2201	4282	6483	SO:0001819	synonymous_variant	285464	exon1			CGTGCCCATGCGG	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.456C>G	4.37:g.1388755C>G		2	0		46	12	NM_175918	0	0	6	12	6	Q8NB03	Silent	SNP	ENST00000324803.4	37	CCDS3349.1	.	.	.	.	.	.	.	.	.	.	-	3.606	-0.080629	0.07141	.	.	ENSG00000179979	ENST00000382944	.	.	.	0.948	-1.9	0.07665	.	.	.	.	.	T	0.13713	0.0332	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.26643	-1.0097	5	0.12430	T	0.62	.	2.6602	0.05024	0.0:0.3324:0.2607:0.407	.	.	.	.	D	136	.	ENSP00000372402:H136D	H	+	1	0	CRIPAK	1378755	0.000000	0.05858	0.001000	0.08648	0.018000	0.09664	-4.277000	0.00261	-0.599000	0.05798	-1.737000	0.00689	CAT	C|0.960;G|0.040		0.697	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918	
WHSC1	7468	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	1905977	1905977	+	Missense_Mutation	SNP	G	G	A	rs192103195		TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr4:1905977G>A	ENST00000382895.3	+	5	1063	c.632G>A	c.(631-633)gGa>gAa	p.G211E	WHSC1_ENST00000436793.1_Missense_Mutation_p.G211E|WHSC1_ENST00000420906.2_Missense_Mutation_p.G211E|WHSC1_ENST00000508803.1_Missense_Mutation_p.G211E|WHSC1_ENST00000382892.2_Missense_Mutation_p.G211E|WHSC1_ENST00000398261.1_Missense_Mutation_p.G211E|WHSC1_ENST00000382891.5_Missense_Mutation_p.G211E|WHSC1_ENST00000503128.1_Missense_Mutation_p.G211E|WHSC1_ENST00000514045.1_Missense_Mutation_p.G211E	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	211					anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		CCAAACACTGGAAGAGACAAA	0.443			T	IGH@	MM								G|||	1	0.000199681	0.0	0.0	5008	,	,		20200	0.0		0.001	False		,,,				2504	0.0				p.G211E		.		Dom	yes		4	4p16.3	7468	Wolf-Hirschhorn syndrome candidate 1(MMSET)		L	.	WHSC1-664	0			c.G632A						.						151.0	141.0	144.0					4																	1905977		2203	4300	6503	SO:0001583	missense	7468	exon3			ACACTGGAAGAGA	AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"""Zinc fingers, PHD-type"""	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.632G>A	4.37:g.1905977G>A	ENSP00000372351:p.Gly211Glu	179	1		177	68	NM_133335	0	0	0	1	1	A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Missense_Mutation	SNP	ENST00000382895.3	37	CCDS33940.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	0.022	-1.413299	0.01145	.	.	ENSG00000109685	ENST00000508803;ENST00000514045;ENST00000382891;ENST00000382892;ENST00000436793;ENST00000420906;ENST00000382895;ENST00000503128;ENST00000509115;ENST00000398261	D;T;D;D;T;T;D;T;T;T	0.94650	-3.48;1.33;-3.48;-3.48;1.04;1.33;-3.48;1.32;1.33;1.32	5.58	2.64	0.31445	.	0.937562	0.08919	N	0.874624	D	0.84101	0.5398	N	0.17082	0.46	0.09310	N	1	P;P;B;P;B	0.39782	0.688;0.554;0.012;0.554;0.355	B;B;B;B;B	0.33521	0.165;0.165;0.009;0.165;0.165	T	0.77389	-0.2606	10	0.02654	T	1	.	5.7451	0.18116	0.0752:0.1431:0.5838:0.1979	.	211;211;211;211;211	O96028-3;O96028-7;O96028;O96028-5;O96028-6	.;.;NSD2_HUMAN;.;.	E	211	ENSP00000423972:G211E;ENSP00000421681:G211E;ENSP00000372347:G211E;ENSP00000372348:G211E;ENSP00000416725:G211E;ENSP00000399251:G211E;ENSP00000372351:G211E;ENSP00000425761:G211E;ENSP00000422878:G211E;ENSP00000381311:G211E	ENSP00000308780:G211E	G	+	2	0	WHSC1	1875775	0.102000	0.21896	0.608000	0.28969	0.334000	0.28698	1.391000	0.34475	1.387000	0.46486	0.655000	0.94253	GGA	G|0.999;A|0.000		0.443	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366269.2	NM_133330	
WFS1	7466	ucsc.edu;bcgsc.ca;mdanderson.org	37	4	6302448	6302448	+	Missense_Mutation	SNP	G	G	T	rs577526929		TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr4:6302448G>T	ENST00000226760.1	+	8	1096	c.926G>T	c.(925-927)aGg>aTg	p.R309M	WFS1_ENST00000503569.1_Missense_Mutation_p.R309M	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	309					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|calcium ion homeostasis (GO:0055074)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glucose homeostasis (GO:0042593)|kidney development (GO:0001822)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of programmed cell death (GO:0043069)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurological system process (GO:0050877)|olfactory behavior (GO:0042048)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of growth (GO:0045927)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of proteolysis (GO:0045862)|protein maturation by protein folding (GO:0022417)|protein stabilization (GO:0050821)|renal water homeostasis (GO:0003091)|response to endoplasmic reticulum stress (GO:0034976)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	activating transcription factor binding (GO:0033613)|ATPase binding (GO:0051117)|transporter activity (GO:0005215)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		ATGGCCTCCAGGGCAGGCATG	0.572																																					p.R309M		.											.	WFS1-91	0			c.G926T						.						271.0	200.0	224.0					4																	6302448		2203	4300	6503	SO:0001583	missense	7466	exon8			CCTCCAGGGCAGG	AF084481	CCDS3386.1	4p16.1	2014-06-18			ENSG00000109501	ENSG00000109501			12762	protein-coding gene	gene with protein product		606201		DFNA6, DFNA14, DFNA38		7987399, 9771706	Standard	NM_006005		Approved	DIDMOAD, WFS	uc003gix.3	O76024	OTTHUMG00000090431	ENST00000226760.1:c.926G>T	4.37:g.6302448G>T	ENSP00000226760:p.Arg309Met	248	3		279	157	NM_001145853	0	0	1	3	2	B2R797|D3DVT1|Q8N6I3|Q9UNW6	Missense_Mutation	SNP	ENST00000226760.1	37	CCDS3386.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	15.13|15.13	2.740751|2.740751	0.49045|0.49045	.|.	.|.	ENSG00000109501|ENSG00000109501	ENST00000506362|ENST00000503569;ENST00000226760	.|D;D	.|0.87571	.|-2.27;-2.27	4.6|4.6	2.09|2.09	0.27110|0.27110	.|.	.|0.293927	.|0.30989	.|N	.|0.008475	D|D	0.87180|0.87180	0.6113|0.6113	L|L	0.50333|0.50333	1.59|1.59	0.32657|0.32657	N|N	0.518542|0.518542	.|P	.|0.49358	.|0.923	.|P	.|0.54312	.|0.748	D|D	0.87059|0.87059	0.2152|0.2152	5|10	.|0.72032	.|D	.|0.01	-16.2187|-16.2187	8.3907|8.3907	0.32526|0.32526	0.8582:0.0:0.1418:0.0|0.8582:0.0:0.1418:0.0	.|.	.|309	.|O76024	.|WFS1_HUMAN	W|M	187|309	.|ENSP00000423337:R309M;ENSP00000226760:R309M	.|ENSP00000226760:R309M	G|R	+|+	1|2	0|0	WFS1|WFS1	6353349|6353349	1.000000|1.000000	0.71417|0.71417	0.893000|0.893000	0.35052|0.35052	0.935000|0.935000	0.57460|0.57460	4.150000|4.150000	0.58098|0.58098	0.041000|0.041000	0.15688|0.15688	0.556000|0.556000	0.70494|0.70494	GGG|AGG	.		0.572	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206863.1		
WFS1	7466	bcgsc.ca	37	4	6303354	6303354	+	Missense_Mutation	SNP	G	G	A	rs734312	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr4:6303354G>A	ENST00000226760.1	+	8	2002	c.1832G>A	c.(1831-1833)cGc>cAc	p.R611H	WFS1_ENST00000503569.1_Missense_Mutation_p.R611H	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	611			R -> H (in dbSNP:rs734312). {ECO:0000269|PubMed:10521293, ECO:0000269|PubMed:10624825, ECO:0000269|PubMed:10679252, ECO:0000269|PubMed:10760554, ECO:0000269|PubMed:11295831, ECO:0000269|PubMed:11709538, ECO:0000269|PubMed:15605410, ECO:0000269|PubMed:18688868, ECO:0000269|PubMed:9771706, ECO:0000269|Ref.5}.		activation of signaling protein activity involved in unfolded protein response (GO:0006987)|calcium ion homeostasis (GO:0055074)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glucose homeostasis (GO:0042593)|kidney development (GO:0001822)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of programmed cell death (GO:0043069)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurological system process (GO:0050877)|olfactory behavior (GO:0042048)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of growth (GO:0045927)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of proteolysis (GO:0045862)|protein maturation by protein folding (GO:0022417)|protein stabilization (GO:0050821)|renal water homeostasis (GO:0003091)|response to endoplasmic reticulum stress (GO:0034976)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	activating transcription factor binding (GO:0033613)|ATPase binding (GO:0051117)|transporter activity (GO:0005215)|ubiquitin protein ligase binding (GO:0031625)	p.R611H(1)		central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		CTGCTGTTGCGCTGGTGGACC	0.637													G|||	2350	0.469249	0.0318	0.5476	5008	,	,		20311	0.8105		0.5626	False		,,,				2504	0.5573				p.R611H		.											.	WFS1-91	1	Substitution - Missense(1)	stomach(1)	c.G1832A	GRCh37	CM000447	WFS1	M	rs734312	.	G	HIS/ARG,HIS/ARG	515,3891	237.1+/-249.0	40,435,1728	199.0	184.0	189.0		1832,1832	4.6	1.0	4	dbSNP_86	189	4703,3897	606.5+/-395.1	1267,2169,864	yes	missense,missense	WFS1	NM_001145853.1,NM_006005.3	29,29	1307,2604,2592	AA,AG,GG		45.314,11.6886,40.1199	probably-damaging,probably-damaging	611/891,611/891	6303354	5218,7788	2203	4300	6503	SO:0001583	missense	7466	exon8			TGTTGCGCTGGTG	AF084481	CCDS3386.1	4p16.1	2014-06-18			ENSG00000109501	ENSG00000109501			12762	protein-coding gene	gene with protein product		606201		DFNA6, DFNA14, DFNA38		7987399, 9771706	Standard	NM_006005		Approved	DIDMOAD, WFS	uc003gix.3	O76024	OTTHUMG00000090431	ENST00000226760.1:c.1832G>A	4.37:g.6303354G>A	ENSP00000226760:p.Arg611His	150	0		196	7	NM_001145853	0	0	4	4	0	B2R797|D3DVT1|Q8N6I3|Q9UNW6	Missense_Mutation	SNP	ENST00000226760.1	37	CCDS3386.1	1136	0.5201465201465202	31	0.06300813008130081	202	0.5580110497237569	480	0.8391608391608392	423	0.558047493403694	G	7.640	0.680750	0.14907	0.116886	0.54686	ENSG00000109501	ENST00000503569;ENST00000226760	D;D	0.93604	-3.25;-3.25	5.41	4.57	0.56435	.	0.111903	0.64402	N	0.000013	T	0.00012	0.0000	M	0.80982	2.52	0.22142	P	0.999335408	B	0.26318	0.146	B	0.22601	0.04	T	0.47368	-0.9123	9	0.48119	T	0.1	-38.9527	13.2566	0.60083	0.0769:0.0:0.9231:0.0	rs734312;rs1046313;rs3733193;rs17719619;rs58910458;rs734312	611	O76024	WFS1_HUMAN	H	611	ENSP00000423337:R611H;ENSP00000226760:R611H	ENSP00000226760:R611H	R	+	2	0	WFS1	6354255	1.000000	0.71417	0.983000	0.44433	0.153000	0.21895	4.704000	0.61831	1.295000	0.44724	-0.258000	0.10820	CGC	G|0.550;A|0.450		0.637	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206863.1		
GABRB1	2560	bcgsc.ca	37	4	47322219	47322219	+	Silent	SNP	C	C	A	rs6284	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr4:47322219C>A	ENST00000295454.3	+	5	829	c.537C>A	c.(535-537)atC>atA	p.I179I	GABRB1_ENST00000538619.1_Silent_p.I109I	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	179					cellular response to histamine (GO:0071420)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CCCTGGAGATCGAAAGTTGTG	0.423													C|||	634	0.126597	0.1074	0.1282	5008	,	,		17941	0.1101		0.1968	False		,,,				2504	0.0961				p.I179I		.											.	GABRB1-92	0			c.C537A						.	C		553,3853	247.8+/-255.9	39,475,1689	111.0	96.0	101.0		537	-2.5	1.0	4	dbSNP_52	101	1727,6873	313.1+/-311.2	146,1435,2719	no	coding-synonymous	GABRB1	NM_000812.3		185,1910,4408	AA,AC,CC		20.0814,12.5511,17.5304		179/475	47322219	2280,10726	2203	4300	6503	SO:0001819	synonymous_variant	2560	exon5			GGAGATCGAAAGT		CCDS3474.1	4p12	2012-06-22			ENSG00000163288	ENSG00000163288		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4081	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 1"""	137190					Standard	NM_000812		Approved		uc003gxh.3	P18505	OTTHUMG00000044269	ENST00000295454.3:c.537C>A	4.37:g.47322219C>A		106	1		100	5	NM_000812	0	0	0	0	0	B2R6U7|D6REL3|Q16166|Q8TBK3	Silent	SNP	ENST00000295454.3	37	CCDS3474.1																																																																																			C|0.849;A|0.151		0.423	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216896.1		
DSPP	1834	bcgsc.ca	37	4	88537267	88537267	+	Silent	SNP	C	C	T			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr4:88537267C>T	ENST00000282478.7	+	4	3486	c.3453C>T	c.(3451-3453)agC>agT	p.S1151S	DSPP_ENST00000399271.1_Silent_p.S1151S|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1151	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		gtgaaagcagcgacagcagtg	0.562																																					p.S1151S		.											.	DSPP-90	0			c.C3453T						.						49.0	64.0	59.0					4																	88537267		1582	2857	4439	SO:0001819	synonymous_variant	1834	exon5			AAGCAGCGACAGC	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.3453C>T	4.37:g.88537267C>T		531	7		589	27	NM_014208	0	0	0	0	0	A8MUI0|O95815	Silent	SNP	ENST00000282478.7	37	CCDS43248.1																																																																																			.		0.562	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208	
TRPC3	7222	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	122853648	122853648	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr4:122853648C>A	ENST00000379645.3	-	2	838	c.765G>T	c.(763-765)aaG>aaT	p.K255N	TRPC3_ENST00000264811.5_Missense_Mutation_p.K182N|TRPC3_ENST00000513531.1_Missense_Mutation_p.K182N	NM_001130698.1	NP_001124170.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	170					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cardiac muscle hypertrophy in response to stress (GO:1903244)|response to ATP (GO:0033198)|response to calcium ion (GO:0051592)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TCCTGGCACCCTTCATCAGCA	0.607																																					p.K255N		.											.	TRPC3-92	0			c.G765T						.						64.0	58.0	60.0					4																	122853648		2203	4300	6503	SO:0001583	missense	7222	exon2			GGCACCCTTCATC	Y13758	CCDS3725.1, CCDS47130.1	4q27	2011-12-14			ENSG00000138741	ENSG00000138741		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12335	protein-coding gene	gene with protein product		602345				8646775, 16382100	Standard	NM_003305		Approved		uc003ieg.2	Q13507	OTTHUMG00000133069	ENST00000379645.3:c.765G>T	4.37:g.122853648C>A	ENSP00000368966:p.Lys255Asn	218	0		262	87	NM_001130698	0	0	0	0	0	A7VJS1|E9PCJ9|O00593|Q15660|Q52M35|Q5G1L5	Missense_Mutation	SNP	ENST00000379645.3	37	CCDS47130.1	.	.	.	.	.	.	.	.	.	.	C	16.22	3.061762	0.55432	.	.	ENSG00000138741	ENST00000264811;ENST00000379645;ENST00000513531	T;T;T	0.70631	-0.5;-0.5;-0.5	5.66	1.83	0.25207	.	0.121359	0.51477	N	0.000081	T	0.76506	0.3997	L	0.56340	1.77	0.47407	D	0.999418	D;D	0.76494	0.999;0.999	D;D	0.83275	0.995;0.996	T	0.73883	-0.3842	10	0.87932	D	0	-1.123	6.6598	0.23009	0.0:0.398:0.4276:0.1744	.	182;255	E9PCJ9;Q5G1L5	.;.	N	182;255;182	ENSP00000264811:K182N;ENSP00000368966:K255N;ENSP00000426899:K182N	ENSP00000264811:K182N	K	-	3	2	TRPC3	123073098	1.000000	0.71417	0.997000	0.53966	0.677000	0.39632	1.346000	0.33964	0.274000	0.22072	-0.175000	0.13238	AAG	.		0.607	TRPC3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364252.1	NM_003305	
INTU	27152	bcgsc.ca	37	4	128584580	128584580	+	Silent	SNP	G	G	A	rs4833380	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr4:128584580G>A	ENST00000335251.6	+	4	916	c.813G>A	c.(811-813)acG>acA	p.T271T	INTU_ENST00000296461.5_Silent_p.T271T	NM_015693.3	NP_056508.2	Q9ULD6	INTU_HUMAN	inturned planar cell polarity protein	271					cilium assembly (GO:0042384)|hair follicle morphogenesis (GO:0031069)|keratinocyte differentiation (GO:0030216)|limb development (GO:0060173)|negative regulation of cell division (GO:0051782)|negative regulation of keratinocyte proliferation (GO:0010839)|nervous system development (GO:0007399)|positive regulation of smoothened signaling pathway (GO:0045880)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						AAAGGGAGACGTCCCATCCAA	0.403													A|||	3255	0.64996	0.7474	0.6023	5008	,	,		18606	0.5526		0.5646	False		,,,				2504	0.7403				p.T271T		.											.	INTU-91	0			c.G813A						.	A		3175,1231	424.7+/-340.5	1130,915,158	117.0	114.0	115.0		813	-7.8	0.0	4	dbSNP_111	115	4769,3831	540.3+/-383.8	1329,2111,860	no	coding-synonymous	INTU	NM_015693.3		2459,3026,1018	AA,AG,GG		44.5465,27.9392,38.9205		271/943	128584580	7944,5062	2203	4300	6503	SO:0001819	synonymous_variant	27152	exon4			GGAGACGTCCCAT	BC051698	CCDS34061.1	4q28.2	2013-03-05	2013-03-05	2006-10-24	ENSG00000164066	ENSG00000164066			29239	protein-coding gene	gene with protein product		610621	"""PDZ domain containing 6"", ""inturned planar cell polarity effector homolog (Drosophila)"""	PDZK6, PDZD6		10574462, 21761479	Standard	NM_015693		Approved	KIAA1284	uc003ifk.2	Q9ULD6	OTTHUMG00000161202	ENST00000335251.6:c.813G>A	4.37:g.128584580G>A		181	0		184	8	NM_015693	0	0	0	0	0	A1L4N5|D6RAE6|D6RBT4|Q4W5I8|Q86V55	Silent	SNP	ENST00000335251.6	37	CCDS34061.1																																																																																			G|0.390;A|0.610		0.403	INTU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364147.2	XM_371707	
PCDH18	54510	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	138452025	138452025	+	Silent	SNP	T	T	C			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr4:138452025T>C	ENST00000344876.4	-	1	1604	c.1218A>G	c.(1216-1218)aaA>aaG	p.K406K	PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000412923.2_Silent_p.K406K|PCDH18_ENST00000507846.1_Silent_p.K186K	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	406	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TCTTCTGAAGTTTAAAGTGAC	0.363																																					p.K406K		.											.	PCDH18-185	0			c.A1218G						.						106.0	113.0	111.0					4																	138452025		2203	4300	6503	SO:0001819	synonymous_variant	54510	exon1			CTGAAGTTTAAAG	AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"""Cadherins / Protocadherins : Non-clustered"""	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.1218A>G	4.37:g.138452025T>C		71	0		62	15	NM_019035	0	0	0	0	0	A8K7K3|B7ZKT1|Q52LS2	Silent	SNP	ENST00000344876.4	37	CCDS34064.1																																																																																			.		0.363	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035	
TRIM2	23321	bcgsc.ca	37	4	154216710	154216710	+	Silent	SNP	G	G	A	rs893805	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr4:154216710G>A	ENST00000437508.2	+	6	1152	c.951G>A	c.(949-951)acG>acA	p.T317T	TRIM2_ENST00000338700.5_Silent_p.T344T|TRIM2_ENST00000494872.1_3'UTR	NM_001130067.1	NP_001123539.1	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	317					cell death (GO:0008219)|regulation of neuron apoptotic process (GO:0043523)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T317T(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		ACCTCGGGACGATCTTAACCA	0.622													G|||	2280	0.455272	0.6536	0.4049	5008	,	,		19242	0.1786		0.4563	False		,,,				2504	0.5072				p.T344T		.											.	TRIM2-650	1	Substitution - coding silent(1)	prostate(1)	c.G1032A						.	G	,	2770,1636	659.6+/-400.6	871,1028,304	69.0	61.0	63.0		951,1032	-4.9	0.0	4	dbSNP_86	63	4120,4480	563.6+/-388.2	984,2152,1164	no	coding-synonymous,coding-synonymous	TRIM2	NM_001130067.1,NM_015271.3	,	1855,3180,1468	AA,AG,GG		47.907,37.1312,47.0245	,	317/745,344/772	154216710	6890,6116	2203	4300	6503	SO:0001819	synonymous_variant	23321	exon6			CGGGACGATCTTA	AF220018	CCDS3781.2, CCDS47147.1	4q31.3	2013-01-09	2011-01-25		ENSG00000109654	ENSG00000109654		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	15974	protein-coding gene	gene with protein product		614141	"""tripartite motif-containing 2"""			9628581, 11331580	Standard	NM_015271		Approved	KIAA0517, RNF86	uc003inh.2	Q9C040	OTTHUMG00000155991	ENST00000437508.2:c.951G>A	4.37:g.154216710G>A		191	0		195	7	NM_015271	0	0	0	0	0	D3DP09|O60272|Q9BSI9|Q9UFZ1	Silent	SNP	ENST00000437508.2	37	CCDS47147.1																																																																																			G|0.511;A|0.489		0.622	TRIM2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342652.1		
DCHS2	54798	bcgsc.ca	37	4	155241572	155241572	+	Missense_Mutation	SNP	G	G	A	rs11935573	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr4:155241572G>A	ENST00000357232.4	-	14	3613	c.3614C>T	c.(3613-3615)tCa>tTa	p.S1205L		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1205	Cadherin 10. {ECO:0000255|PROSITE- ProRule:PRU00043}.		S -> L (in dbSNP:rs11935573).		homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S1205L(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TTCATTTCCTGAGAGGATGCT	0.393													G|||	1317	0.262979	0.0613	0.2997	5008	,	,		22015	0.3552		0.3161	False		,,,				2504	0.3599				p.S1205L		.											.	DCHS2-94	2	Substitution - Missense(2)	prostate(1)|stomach(1)	c.C3614T						.	G	LEU/SER	461,3945	219.1+/-236.9	25,411,1767	186.0	168.0	174.0		3614	5.6	1.0	4	dbSNP_120	174	2792,5808	442.8+/-360.2	457,1878,1965	yes	missense	DCHS2	NM_017639.3	145	482,2289,3732	AA,AG,GG		32.4651,10.463,25.0115	probably-damaging	1205/2917	155241572	3253,9753	2203	4300	6503	SO:0001583	missense	54798	exon14			TTTCCTGAGAGGA	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.3614C>T	4.37:g.155241572G>A	ENSP00000349768:p.Ser1205Leu	146	0		159	6	NM_017639	0	0	0	0	0	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	CCDS3785.1	597	0.2733516483516483	25	0.0508130081300813	115	0.31767955801104975	210	0.36713286713286714	247	0.3258575197889182	G	24.6	4.548489	0.86127	0.10463	0.324651	ENSG00000197410	ENST00000357232	T	0.43294	0.95	5.56	5.56	0.83823	Cadherin (4);Cadherin-like (1);	0.455087	0.18369	N	0.143322	T	0.00012	0.0000	M	0.76328	2.33	0.09310	P	1.0	D	0.71674	0.998	P	0.61592	0.891	T	0.26643	-1.0097	9	0.54805	T	0.06	.	14.3837	0.66929	0.0:0.0:0.8522:0.1478	rs11935573;rs52822939;rs61644114;rs11935573	1205	Q6V1P9	PCD23_HUMAN	L	1205	ENSP00000349768:S1205L	ENSP00000349768:S1205L	S	-	2	0	DCHS2	155461022	0.953000	0.32496	1.000000	0.80357	0.965000	0.64279	4.281000	0.58965	2.619000	0.88677	0.467000	0.42956	TCA	G|0.746;A|0.254		0.393	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552	
IRX4	50805	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	1879909	1879909	+	Missense_Mutation	SNP	C	C	A	rs200961337		TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr5:1879909C>A	ENST00000505790.1	-	5	901	c.445G>T	c.(445-447)Gcc>Tcc	p.A149S	IRX4_ENST00000231357.2_Missense_Mutation_p.A149S|IRX4_ENST00000513692.1_Missense_Mutation_p.A149S|IRX4_ENST00000505938.1_5'UTR	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	149					establishment of organ orientation (GO:0048561)|heart development (GO:0007507)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		TCGCGCGTGGCGTTCTTGCGC	0.642																																					p.A149S		.											.	IRX4-226	0			c.G445T						.						125.0	94.0	104.0					5																	1879909		2203	4300	6503	SO:0001583	missense	50805	exon4			GCGTGGCGTTCTT	AF124733	CCDS3867.1, CCDS75225.1	5p15.33	2011-06-20	2007-07-13		ENSG00000113430	ENSG00000113430		"""Homeoboxes / TALE class"""	6129	protein-coding gene	gene with protein product		606199	"""iroquois homeobox protein 4"""			10625552	Standard	NM_016358		Approved		uc003jcz.2	P78413	OTTHUMG00000090411	ENST00000505790.1:c.445G>T	5.37:g.1879909C>A	ENSP00000423161:p.Ala149Ser	62	0		106	82	NM_016358	0	0	0	0	0	B2RMW5|D3DTC5|H1AFL0|H1AFL1|Q2NL64|Q9UHR2	Missense_Mutation	SNP	ENST00000505790.1	37	CCDS3867.1	.	.	.	.	.	.	.	.	.	.	C	30	5.054298	0.93793	.	.	ENSG00000113430	ENST00000231357;ENST00000505790;ENST00000513692;ENST00000511126	D;D;D;T	0.83837	-1.77;-1.77;-1.77;-0.27	4.55	4.55	0.56014	Homeodomain-related (1);Homeobox (2);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.92133	0.7506	M	0.89478	3.035	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.93778	0.7081	10	0.72032	D	0.01	-26.1033	16.0968	0.81132	0.0:1.0:0.0:0.0	.	149	P78413	IRX4_HUMAN	S	149;149;149;175	ENSP00000231357:A149S;ENSP00000423161:A149S;ENSP00000424235:A149S;ENSP00000421772:A175S	ENSP00000231357:A149S	A	-	1	0	IRX4	1932909	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.382000	0.79729	2.067000	0.61834	0.462000	0.41574	GCC	.		0.642	IRX4-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365500.1	NM_016358	
MYO10	4651	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	16671084	16671084	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr5:16671084G>T	ENST00000513610.1	-	39	5888	c.5434C>A	c.(5434-5436)Cac>Aac	p.H1812N	MYO10_ENST00000515803.1_Missense_Mutation_p.H1151N|MYO10_ENST00000274203.9_Missense_Mutation_p.H1169N|MYO10_ENST00000505695.1_Missense_Mutation_p.H1151N|MYO10_ENST00000427430.2_Missense_Mutation_p.H1169N	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1812	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						ACCGCTTCGTGGGCCTGAAAG	0.562																																					p.H1812N		.											.	MYO10-3	0			c.C5434A						.						33.0	38.0	36.0					5																	16671084		2072	4212	6284	SO:0001583	missense	4651	exon39			CTTCGTGGGCCTG	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.5434C>A	5.37:g.16671084G>T	ENSP00000421280:p.His1812Asn	98	0		86	13	NM_012334	0	0	0	0	0	A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation	SNP	ENST00000513610.1	37	CCDS54834.1	.	.	.	.	.	.	.	.	.	.	G	16.16	3.045054	0.55110	.	.	ENSG00000145555	ENST00000513610;ENST00000515803;ENST00000274203;ENST00000505695;ENST00000427430	T;T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11;-1.11	5.52	5.52	0.82312	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	.	.	.	.	D	0.88695	0.6506	M	0.83603	2.65	0.80722	D	1	D;D;D	0.89917	0.997;0.999;1.0	D;D;D	0.87578	0.96;0.995;0.998	D	0.85797	0.1371	9	0.21540	T	0.41	.	19.4559	0.94889	0.0:0.0:1.0:0.0	.	691;1452;1812	B4DIJ5;Q69YP8;Q9HD67	.;.;MYO10_HUMAN	N	1812;1151;1169;1151;1169	ENSP00000421280:H1812N;ENSP00000425051:H1151N;ENSP00000274203:H1169N;ENSP00000421170:H1151N;ENSP00000391106:H1169N	ENSP00000274203:H1169N	H	-	1	0	MYO10	16724084	1.000000	0.71417	0.999000	0.59377	0.246000	0.25737	9.827000	0.99397	2.586000	0.87340	0.563000	0.77884	CAC	.		0.562	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334	
C9	735	broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	39308392	39308392	+	Missense_Mutation	SNP	T	T	A			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr5:39308392T>A	ENST00000263408.4	-	8	1275	c.1180A>T	c.(1180-1182)Atc>Ttc	p.I394F		NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	394	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|hemolysis by symbiont of host erythrocytes (GO:0019836)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane attack complex (GO:0005579)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			CCAACAGAGATTTCAGAGAAA	0.363																																					p.I394F		.											.	C9-90	0			c.A1180T						.						130.0	127.0	128.0					5																	39308392		2203	4300	6503	SO:0001583	missense	735	exon8			CAGAGATTTCAGA		CCDS3929.1	5p14-p12	2014-09-17			ENSG00000113600	ENSG00000113600		"""Complement system"""	1358	protein-coding gene	gene with protein product		120940					Standard	NM_001737		Approved		uc003jlv.4	P02748	OTTHUMG00000094767	ENST00000263408.4:c.1180A>T	5.37:g.39308392T>A	ENSP00000263408:p.Ile394Phe	144	2		161	73	NM_001737	0	0	0	0	0		Missense_Mutation	SNP	ENST00000263408.4	37	CCDS3929.1	.	.	.	.	.	.	.	.	.	.	T	4.278	0.050817	0.08243	.	.	ENSG00000113600	ENST00000263408	T	0.31769	1.48	4.73	-9.46	0.00597	Membrane attack complex component/perforin (MACPF) domain (3);	4.297030	0.00589	N	0.000345	T	0.15435	0.0372	L	0.34521	1.04	0.09310	N	1	B	0.15719	0.014	B	0.12837	0.008	T	0.20974	-1.0259	10	0.15499	T	0.54	0.645	0.7129	0.00927	0.1908:0.2294:0.1917:0.3881	.	394	P02748	CO9_HUMAN	F	394	ENSP00000263408:I394F	ENSP00000263408:I394F	I	-	1	0	C9	39344149	0.000000	0.05858	0.000000	0.03702	0.048000	0.14542	-0.298000	0.08265	-1.928000	0.01059	0.477000	0.44152	ATC	.		0.363	C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211576.3		
MROH2B	133558	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	41032905	41032905	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr5:41032905G>A	ENST00000399564.4	-	24	2830	c.2380C>T	c.(2380-2382)Ccc>Tcc	p.P794S	MROH2B_ENST00000506092.2_Missense_Mutation_p.P349S	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	794																	GAATCCAGGGGCTCGTCTCTA	0.388																																					p.P794S		.											.	.	0			c.C2380T						.						65.0	60.0	62.0					5																	41032905		1846	4082	5928	SO:0001583	missense	133558	exon24			CCAGGGGCTCGTC		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.2380C>T	5.37:g.41032905G>A	ENSP00000382476:p.Pro794Ser	78	0		95	31	NM_173489	0	0	0	0	0	Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	G	19.80	3.894313	0.72639	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.09445	2.98;2.98	5.67	5.67	0.87782	.	0.577906	0.15923	N	0.238038	T	0.33469	0.0864	M	0.73217	2.22	0.44316	D	0.997192	D	0.89917	1.0	D	0.87578	0.998	T	0.00400	-1.1763	10	0.48119	T	0.1	.	15.2694	0.73689	0.0:0.0:1.0:0.0	.	794	Q7Z745	HTRB2_HUMAN	S	349;499;794	ENSP00000441504:P349S;ENSP00000382476:P794S	ENSP00000296803:P499S	P	-	1	0	HEATR7B2	41068662	1.000000	0.71417	0.998000	0.56505	0.835000	0.47333	4.860000	0.62961	2.674000	0.91012	0.655000	0.94253	CCC	.		0.388	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489	
MSH3	4437	hgsc.bcm.edu	37	5	79950715	79950715	+	Missense_Mutation	SNP	G	G	C	rs144776112|rs201874762		TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr5:79950715G>C	ENST00000265081.6	+	1	249	c.169G>C	c.(169-171)Gcc>Ccc	p.A57P	DHFR_ENST00000511032.1_5'Flank|DHFR_ENST00000505337.1_5'Flank|DHFR_ENST00000513048.1_5'Flank|DHFR_ENST00000504396.1_5'Flank|DHFR_ENST00000439211.2_5'UTR	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	57	Poly-Ala.		Missing. {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:8942985}.		ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		ggctgcagcggccgcagcggc	0.692								Mismatch excision repair (MMR)																													p.A57P	Melanoma(88;1010 1399 13793 26548 36275)	.											.	MSH3-661	0			c.G169C						.						7.0	7.0	7.0					5																	79950715		2089	4077	6166	SO:0001583	missense	4437	exon1			GCAGCGGCCGCAG	U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"""Divergent upstream protein"", ""Mismatch repair protein 1"""	600887	"""mutS (E. coli) homolog 3"", ""mutS homolog 3 (E. coli)"""				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.169G>C	5.37:g.79950715G>C	ENSP00000265081:p.Ala57Pro	3	0		26	14	NM_002439	0	0	0	0	0	A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Missense_Mutation	SNP	ENST00000265081.6	37	CCDS34195.1	362	0.16575091575091574	115	0.23373983739837398	67	0.1850828729281768	32	0.055944055944055944	148	0.19525065963060687	-	0.222	-1.028222	0.02045	.	.	ENSG00000113318	ENST00000265081	D	0.87256	-2.23	.	.	.	.	.	.	.	.	T	0.00039	0.0001	N	0.03608	-0.345	0.80722	P	0.0	.	.	.	.	.	.	T	0.02983	-1.1086	3	.	.	.	.	.	.	.	.	57	P20585	MSH3_HUMAN	P	57	ENSP00000265081:A57P	.	A	+	1	0	MSH3	79986471	0.041000	0.20044	0.049000	0.19019	0.152000	0.21847	0.000000	0.12993	0.000000	0.14550	0.000000	0.15137	GCC	G|0.834;C|0.166		0.692	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369471.1	NM_002439	
PCDHB10	56126	hgsc.bcm.edu	37	5	140573844	140573844	+	Silent	SNP	C	C	T			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr5:140573844C>T	ENST00000239446.4	+	1	1903	c.1719C>T	c.(1717-1719)acC>acT	p.T573T		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	573	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCCCTGCACCGAGCTGGTGC	0.711																																					p.T573T		.											.	PCDHB10-92	0			c.C1719T						.						7.0	10.0	9.0					5																	140573844		1626	3527	5153	SO:0001819	synonymous_variant	56126	exon1			CTGCACCGAGCTG	AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"""Cadherins / Protocadherins : Clustered"""	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.1719C>T	5.37:g.140573844C>T		0	0		38	11	NM_018930	0	0	6	13	7	Q96T99	Silent	SNP	ENST00000239446.4	37	CCDS4252.1																																																																																			.		0.711	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930	
PANK3	79646	ucsc.edu	37	5	167988433	167988433	+	Missense_Mutation	SNP	T	T	A	rs77612793	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr5:167988433T>A	ENST00000239231.6	-	5	1217	c.901A>T	c.(901-903)Att>Ttt	p.I301F	MIR103A1_ENST00000362165.1_RNA|PANK3_ENST00000520504.1_5'UTR	NM_024594.3	NP_078870.1	Q9H999	PANK3_HUMAN	pantothenate kinase 3	301					coenzyme A biosynthetic process (GO:0015937)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)	p.I301F(2)		NS(1)|cervix(2)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188)		ACAGAACCAATGTTATTGGTG	0.333													T|||	528	0.105431	0.0484	0.1138	5008	,	,		18239	0.1369		0.1392	False		,,,				2504	0.1094				p.I301F		.											.	PANK3-91	2	Substitution - Missense(2)	NS(1)|skin(1)	c.A901T						.						63.0	64.0	64.0					5																	167988433		2203	4300	6503	SO:0001583	missense	79646	exon5			AACCAATGTTATT	AK022961	CCDS4368.1	5q35.1	2008-02-05			ENSG00000120137	ENSG00000120137			19365	protein-coding gene	gene with protein product		606161				11479594	Standard	NM_024594		Approved	FLJ12899	uc003lzz.2	Q9H999	OTTHUMG00000130410	ENST00000239231.6:c.901A>T	5.37:g.167988433T>A	ENSP00000239231:p.Ile301Phe	18	5		42	14	NM_024594	0	0	4	4	0	D3DQL1|Q53FJ9|Q7RTX4	Missense_Mutation	SNP	ENST00000239231.6	37	CCDS4368.1	.	.	.	.	.	.	.	.	.	.	T	27.3	4.819248	0.90873	.	.	ENSG00000120137	ENST00000239231	D	0.99769	-6.7	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	D	0.99846	0.9929	H	0.95950	3.745	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.96634	0.9469	10	0.87932	D	0	-14.7534	13.8724	0.63626	0.0:0.0:0.0:1.0	.	301	Q9H999	PANK3_HUMAN	F	301	ENSP00000239231:I301F	ENSP00000239231:I301F	I	-	1	0	PANK3	167921011	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.308000	0.72820	1.870000	0.54199	0.454000	0.30748	ATT	T|0.947;A|0.053		0.333	PANK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252793.2	NM_024594	
ARL10	285598	hgsc.bcm.edu	37	5	175792605	175792605	+	Silent	SNP	G	G	C	rs2303667	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr5:175792605G>C	ENST00000310389.5	+	1	135	c.39G>C	c.(37-39)ctG>ctC	p.L13L	MIR1271_ENST00000408537.1_RNA	NM_173664.4	NP_775935.1	Q8N8L6	ARL10_HUMAN	ADP-ribosylation factor-like 10	13					small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			endometrium(2)|lung(1)|ovary(1)	4	all_cancers(89;0.0064)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.0965)		TGCTGGCGCTGGGCGGCGCCG	0.756													G|||	2787	0.55651	0.5938	0.4928	5008	,	,		9772	0.5556		0.6093	False		,,,				2504	0.498				p.L13L		.											.	ARL10-91	0			c.G39C						.	G		1858,1528		603,652,438	3.0	4.0	3.0		39	3.2	0.8	5	dbSNP_100	3	4085,2705		1416,1253,726	no	coding-synonymous	ARL10	NM_173664.4		2019,1905,1164	CC,CG,GG		39.838,45.127,41.5979		13/245	175792605	5943,4233	1693	3395	5088	SO:0001819	synonymous_variant	285598	exon1			GGCGCTGGGCGGC	BK001673	CCDS4400.1	5q35.3	2014-05-09	2005-11-03	2005-11-03	ENSG00000175414	ENSG00000175414		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	22042	protein-coding gene	gene with protein product			"""ADP-ribosylation factor-like 10A"""	ARL10A			Standard	NM_173664		Approved		uc003mec.1	Q8N8L6	OTTHUMG00000130655	ENST00000310389.5:c.39G>C	5.37:g.175792605G>C		0	0		5	5	NM_173664	0	0	0	0	0		Silent	SNP	ENST00000310389.5	37	CCDS4400.1																																																																																			G|0.585;C|0.415		0.756	ARL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253145.2	NM_173664	
HIST1H2BA	255626	bcgsc.ca	37	6	25727334	25727334	+	Silent	SNP	C	C	T	rs4712961	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr6:25727334C>T	ENST00000274764.2	+	1	198	c.198C>T	c.(196-198)tcC>tcT	p.S66S	HIST1H2AA_ENST00000297012.3_5'Flank	NM_170610.2	NP_733759.1	Q96A08	H2B1A_HUMAN	histone cluster 1, H2ba	66					cellular response to acid chemical (GO:0071229)|chromatin organization (GO:0006325)|inflammatory response (GO:0006954)|mononuclear cell migration (GO:0071674)|nucleosome assembly (GO:0006334)|nucleosome disassembly (GO:0006337)|plasminogen activation (GO:0031639)|positive regulation of binding (GO:0051099)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)	extrinsic component of plasma membrane (GO:0019897)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|kidney(1)	2						TTATGAATTCCTTCGTCACTG	0.468													C|||	1738	0.347045	0.0976	0.4366	5008	,	,		21573	0.6825		0.2922	False		,,,				2504	0.3313				p.S66S		.											.	HIST1H2BA-204	0			c.C198T						.	C		605,3801	265.3+/-266.6	47,511,1645	401.0	304.0	337.0		198	-5.9	0.0	6	dbSNP_111	337	2391,6209	398.2+/-346.0	339,1713,2248	no	coding-synonymous	HIST1H2BA	NM_170610.2		386,2224,3893	TT,TC,CC		27.8023,13.7313,23.0355		66/128	25727334	2996,10010	2203	4300	6503	SO:0001819	synonymous_variant	255626	exon1			GAATTCCTTCGTC	AF397301	CCDS4563.1	6p22.2	2011-01-27	2006-10-11		ENSG00000146047	ENSG00000146047		"""Histones / Replication-dependent"""	18730	protein-coding gene	gene with protein product		609904	"""H2B histone family, member U, (testis-specific)"", ""histone 1, H2ba"""			12408966, 12213818	Standard	NM_170610		Approved	bA317E16.3, STBP, TSH2B, H2BFU	uc003nfd.3	Q96A08	OTTHUMG00000014408	ENST00000274764.2:c.198C>T	6.37:g.25727334C>T		121	0		93	5	NM_170610	0	0	0	0	0	B2R544|Q6NZ98|Q6NZA0|Q6NZA1	Silent	SNP	ENST00000274764.2	37	CCDS4563.1																																																																																			C|0.679;T|0.321		0.468	HIST1H2BA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040066.1	NM_170610	
COL21A1	81578	bcgsc.ca	37	6	56044578	56044578	+	Silent	SNP	T	T	C	rs2038149	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr6:56044578T>C	ENST00000244728.5	-	3	835	c.438A>G	c.(436-438)aaA>aaG	p.K146K	COL21A1_ENST00000535941.1_Silent_p.K146K|COL21A1_ENST00000370819.1_Silent_p.K146K	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	146	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CATCTTGGGATTTGCCATCCG	0.438													T|||	3460	0.690895	0.6225	0.5677	5008	,	,		21148	0.8631		0.6272	False		,,,				2504	0.7587				p.K146K		.											.	COL21A1-24	0			c.A438G						.	T		2568,1448		815,938,255	100.0	95.0	97.0		438	4.8	1.0	6	dbSNP_94	97	5406,2944		1767,1872,536	no	coding-synonymous	COL21A1	NM_030820.3		2582,2810,791	CC,CT,TT		35.2575,36.0558,35.5167		146/958	56044578	7974,4392	2008	4175	6183	SO:0001819	synonymous_variant	81578	exon3			TTGGGATTTGCCA	AF330693	CCDS55025.1	6p12.3-p11.2	2013-01-16			ENSG00000124749	ENSG00000124749		"""Collagens"""	17025	protein-coding gene	gene with protein product		610002				11566190	Standard	XR_241922		Approved		uc003pcs.3	Q96P44	OTTHUMG00000014907	ENST00000244728.5:c.438A>G	6.37:g.56044578T>C		213	3		198	8	NM_030820	0	0	0	0	0	A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Silent	SNP	ENST00000244728.5	37	CCDS55025.1																																																																																			T|0.330;C|0.670		0.438	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041004.2		
EEF1A1	1915	bcgsc.ca	37	6	74227940	74227940	+	Silent	SNP	A	A	C	rs11556677	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr6:74227940A>C	ENST00000316292.9	-	6	2068	c.1077T>G	c.(1075-1077)ccT>ccG	p.P359P	EEF1A1_ENST00000331523.2_Silent_p.P359P|EEF1A1_ENST00000491404.1_Intron|EEF1A1_ENST00000309268.6_Silent_p.P359P	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	359					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation elongation factor activity (GO:0003746)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						AATCCAATACAGGGGCATAGC	0.448																																					p.P359P		.											.	EEF1A1-226	0			c.T1077G						.						36.0	40.0	38.0					6																	74227940		2195	4298	6493	SO:0001819	synonymous_variant	1915	exon7			CAATACAGGGGCA	BC019669	CCDS4980.1	6q14.1	2010-06-30	2004-11-19		ENSG00000156508	ENSG00000156508			3189	protein-coding gene	gene with protein product		130590	"""leukocyte receptor cluster (LRC) member 7"""	EF1A, EEF1A, LENG7		8812466, 10941842	Standard	NM_001402		Approved	EE1A1	uc003phj.3	P68104	OTTHUMG00000015031	ENST00000316292.9:c.1077T>G	6.37:g.74227940A>C		211	6		104	13	NM_001402	6	1	5571	5579	1	P04719|P04720|Q6IQ15	Silent	SNP	ENST00000316292.9	37	CCDS4980.1																																																																																			C|1.000;|0.000		0.448	EEF1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041210.2	NM_001402	
ITGB8	3696	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	20418693	20418693	+	Missense_Mutation	SNP	G	G	A	rs374723970		TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr7:20418693G>A	ENST00000222573.4	+	4	1092	c.408G>A	c.(406-408)atG>atA	p.M136I	SNORD56_ENST00000363883.1_RNA|ITGB8_ENST00000537992.1_Start_Codon_SNP_p.M1I	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	136					cartilage development (GO:0051216)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|ganglioside metabolic process (GO:0001573)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of gene expression (GO:0010629)|placenta blood vessel development (GO:0060674)|positive regulation of gene expression (GO:0010628)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	extracellular matrix protein binding (GO:1990430)|receptor activity (GO:0004872)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						CTAATTTTATGCTGAAAGTTC	0.308																																					p.M136I		.											.	ITGB8-227	0			c.G408A						.						66.0	77.0	73.0					7																	20418693		2175	4296	6471	SO:0001583	missense	3696	exon4			TTTTATGCTGAAA		CCDS5370.1	7p15.3	2010-03-23			ENSG00000105855	ENSG00000105855		"""Integrins"""	6163	protein-coding gene	gene with protein product		604160					Standard	XM_005249751		Approved		uc003suu.3	P26012	OTTHUMG00000023594	ENST00000222573.4:c.408G>A	7.37:g.20418693G>A	ENSP00000222573:p.Met136Ile	19	0		28	9	NM_002214	0	0	0	0	0	A4D133|B4DHD4	Missense_Mutation	SNP	ENST00000222573.4	37	CCDS5370.1	.	.	.	.	.	.	.	.	.	.	G	9.682	1.149579	0.21288	.	.	ENSG00000105855	ENST00000537992;ENST00000222573	D;D	0.92348	-2.56;-3.02	5.42	2.56	0.30785	Integrin beta subunit, N-terminal (2);	0.114120	0.64402	N	0.000011	T	0.79370	0.4434	N	0.05441	-0.05	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.68398	-0.5419	10	0.34782	T	0.22	-11.2388	4.7624	0.13115	0.1363:0.121:0.6176:0.125	.	136;136	P26012;Q9BUG9	ITB8_HUMAN;.	I	1;136	ENSP00000441561:M1I;ENSP00000222573:M136I	ENSP00000222573:M136I	M	+	3	0	ITGB8	20385218	0.993000	0.37304	0.999000	0.59377	0.964000	0.63967	0.767000	0.26575	0.737000	0.32582	-0.142000	0.14014	ATG	.		0.308	ITGB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059915.3	NM_002214	
GARS	2617	hgsc.bcm.edu	37	7	30634630	30634630	+	Silent	SNP	G	G	C	rs2529438	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr7:30634630G>C	ENST00000389266.3	+	1	334	c.93G>C	c.(91-93)ctG>ctC	p.L31L	AC005154.6_ENST00000584372.1_RNA|AC005154.6_ENST00000583664.1_RNA|AC005154.6_ENST00000579174.1_RNA|AC005154.6_ENST00000578994.1_RNA|AC005154.6_ENST00000584199.1_RNA|AC005154.6_ENST00000582549.1_RNA|AC005154.6_ENST00000581665.1_RNA|AC005154.6_ENST00000580440.1_RNA	NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	31					cell death (GO:0008219)|diadenosine tetraphosphate biosynthetic process (GO:0015966)|gene expression (GO:0010467)|glycyl-tRNA aminoacylation (GO:0006426)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|secretory granule (GO:0030141)	ATP binding (GO:0005524)|glycine-tRNA ligase activity (GO:0004820)|protein dimerization activity (GO:0046983)			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	CCTCGCTCCTGCTCCGCCGGT	0.741													G|||	705	0.140775	0.1218	0.0994	5008	,	,		12290	0.1776		0.0726	False		,,,				2504	0.228				p.L31L		.											.	GARS-91	0			c.G93C						.	G		360,3594		14,332,1631	6.0	8.0	7.0		93	2.7	0.0	7	dbSNP_100	7	669,7413		24,621,3396	no	coding-synonymous	GARS	NM_002047.2		38,953,5027	CC,CG,GG		8.2777,9.1047,8.5494		31/740	30634630	1029,11007	1977	4041	6018	SO:0001819	synonymous_variant	2617	exon1			GCTCCTGCTCCGC	AK074524	CCDS43564.1	7p15	2014-09-17	2004-02-13		ENSG00000106105	ENSG00000106105	6.1.1.14	"""Aminoacyl tRNA synthetases / Class II"""	4162	protein-coding gene	gene with protein product	"""glycine tRNA ligase"""	600287	"""Charcot-Marie-Tooth neuropathy 2D"""	CMT2D		8595897, 8872480	Standard	NM_002047		Approved	GlyRS, DSMAV, SMAD1	uc003tbm.3	P41250	OTTHUMG00000152769	ENST00000389266.3:c.93G>C	7.37:g.30634630G>C		0	0		13	9	NM_002047	0	0	1	3	2	B3KQA2|B4DIA0|Q969Y1	Silent	SNP	ENST00000389266.3	37	CCDS43564.1																																																																																			G|0.889;C|0.111		0.741	GARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327735.1	NM_002047	
EPDR1	54749	hgsc.bcm.edu	37	7	37960577	37960577	+	Silent	SNP	C	C	A	rs147877097	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr7:37960577C>A	ENST00000199448.4	+	1	415	c.36C>A	c.(34-36)ggC>ggA	p.G12G	EPDR1_ENST00000423717.1_Silent_p.G12G|EPDR1_ENST00000559325.1_Silent_p.G132G|EPDR1_ENST00000476620.1_Intron|EPDR1_ENST00000425345.1_5'Flank	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN	ependymin related 1	12					cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						CCGTCCCGGGCGCCCTGGGTG	0.786													C|||	20	0.00399361	0.0008	0.0159	5008	,	,		11784	0.0		0.007	False		,,,				2504	0.001				p.G12G		.											.	EPDR1-91	0			c.C36A						.	C		8,3816		0,8,1904	4.0	5.0	5.0		396	-1.9	0.0	7	dbSNP_134	5	83,7553		1,81,3736	no	coding-synonymous	EPDR1	NM_017549.4		1,89,5640	AA,AC,CC		1.087,0.2092,0.7941		132/345	37960577	91,11369	1912	3818	5730	SO:0001819	synonymous_variant	54749	exon1			CCCGGGCGCCCTG	BC018299	CCDS5454.1, CCDS5454.2, CCDS59051.1, CCDS59052.1	7p14.1	2013-07-31	2013-07-31		ENSG00000086289	ENSG00000086289			17572	protein-coding gene	gene with protein product			"""ependymin related protein 1 (zebrafish)"""			11749721, 11248421	Standard	NM_001242946		Approved	MERP-1, MERP1, UCC1, EPDR	uc003tfp.4	Q9UM22	OTTHUMG00000102187	ENST00000199448.4:c.36C>A	7.37:g.37960577C>A		0	0		12	7	NM_001242946	0	0	1	1	0	A8K4C0|C9JYS3|Q06BL0|Q99M77	Silent	SNP	ENST00000199448.4	37	CCDS5454.2																																																																																			C|0.995;A|0.005		0.786	EPDR1-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220037.3	NM_017549	
GLI3	2737	hgsc.bcm.edu	37	7	42005050	42005050	+	Missense_Mutation	SNP	G	G	T	rs374797309		TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr7:42005050G>T	ENST00000395925.3	-	15	3705	c.3621C>A	c.(3619-3621)agC>agA	p.S1207R	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1207					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CAGCAGGCCCGCTCCTCAAGG	0.662									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																												p.S1207R		.											.	GLI3-1149	0			c.C3621A						.						44.0	53.0	50.0					7																	42005050		2203	4300	6503	SO:0001583	missense	2737	exon15	Familial Cancer Database	;	AGGCCCGCTCCTC		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.3621C>A	7.37:g.42005050G>T	ENSP00000379258:p.Ser1207Arg	11	0		61	4	NM_000168	0	0	3	3	0	A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	G	11.18	1.562846	0.27915	.	.	ENSG00000106571	ENST00000395925	T	0.14144	2.53	5.59	-10.7	0.00240	.	1.414730	0.03939	N	0.286529	T	0.13457	0.0326	L	0.39898	1.24	0.09310	N	0.999992	B	0.13145	0.007	B	0.06405	0.002	T	0.39961	-0.9588	10	0.20046	T	0.44	.	23.7814	0.99985	0.2226:0.0:0.7774:0.0	.	1207	P10071	GLI3_HUMAN	R	1207	ENSP00000379258:S1207R	ENSP00000379258:S1207R	S	-	3	2	GLI3	41971575	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.515000	0.06290	-1.981000	0.00989	-0.768000	0.03414	AGC	G|1.000;T|0.000		0.662	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168	
MYO1G	64005	hgsc.bcm.edu;mdanderson.org	37	7	45002430	45002430	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr7:45002430G>A	ENST00000258787.7	-	22	3101	c.2965C>T	c.(2965-2967)Cgc>Tgc	p.R989C	RP4-647J21.1_ENST00000568457.1_RNA	NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	989	Myosin tail. {ECO:0000255}.					extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						GAGATGAGGCGCCGGACCCCG	0.736																																					p.R989C		.											.	MYO1G-137	0			c.C2965T						.						6.0	8.0	7.0					7																	45002430		2080	4152	6232	SO:0001583	missense	64005	exon22			TGAGGCGCCGGAC	AF380932	CCDS34629.1	7p13-p11.2	2011-09-27			ENSG00000136286	ENSG00000136286		"""Myosins / Myosin superfamily : Class I"""	13880	protein-coding gene	gene with protein product	"""minor histocompatibility antigen HA-2"""	600642					Standard	NM_033054		Approved	HA-2	uc003tmh.2	B0I1T2	OTTHUMG00000155821	ENST00000258787.7:c.2965C>T	7.37:g.45002430G>A	ENSP00000258787:p.Arg989Cys	12	0		105	64	NM_033054	0	0	0	0	0	Q8TEI9|Q8TES2|Q96BE2|Q96RI5|Q96RI6	Missense_Mutation	SNP	ENST00000258787.7	37	CCDS34629.1	.	.	.	.	.	.	.	.	.	.	G	12.48	1.949537	0.34377	.	.	ENSG00000136286	ENST00000258787	T	0.36157	1.27	4.38	3.48	0.39840	Myosin tail 2 (1);	0.000000	0.37095	U	0.002243	T	0.28665	0.0710	L	0.51853	1.615	0.25284	N	0.989418	B	0.33857	0.429	B	0.28232	0.087	T	0.13764	-1.0497	10	0.39692	T	0.17	.	9.9021	0.41353	0.0:0.0:0.6315:0.3685	.	989	B0I1T2	MYO1G_HUMAN	C	989	ENSP00000258787:R989C	ENSP00000258787:R989C	R	-	1	0	MYO1G	44968955	0.990000	0.36364	0.409000	0.26459	0.886000	0.51366	1.653000	0.37323	0.946000	0.37632	0.555000	0.69702	CGC	.		0.736	MYO1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341832.2		
ZNF775	285971	broad.mit.edu	37	7	150093920	150093920	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr7:150093920C>A	ENST00000329630.5	+	3	458	c.351C>A	c.(349-351)agC>agA	p.S117R		NM_173680.3	NP_775951.2	Q96BV0	ZN775_HUMAN	zinc finger protein 775	117					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGAGGTTCAGCTGGTGGTCGT	0.667																																					p.S117R		.											.	ZNF775-90	0			c.C351A						.						13.0	17.0	16.0					7																	150093920		2163	4284	6447	SO:0001583	missense	285971	exon3			GTTCAGCTGGTGG	BC038111	CCDS43678.1	7q36.1	2013-01-08			ENSG00000196456	ENSG00000196456		"""Zinc fingers, C2H2-type"""	28501	protein-coding gene	gene with protein product						12477932	Standard	NM_173680		Approved	MGC33584	uc003whf.1	Q96BV0	OTTHUMG00000158324	ENST00000329630.5:c.351C>A	7.37:g.150093920C>A	ENSP00000330838:p.Ser117Arg	14	0		36	3	NM_173680	0	0	2	2	0	Q8IY24	Missense_Mutation	SNP	ENST00000329630.5	37	CCDS43678.1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.612813	0.46631	.	.	ENSG00000196456	ENST00000478789;ENST00000329630;ENST00000490973	T;T;T	0.15834	2.39;2.39;2.39	4.61	2.63	0.31362	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22322	0.0538	N	0.24115	0.695	0.27087	N	0.962945	D	0.71674	0.998	D	0.66497	0.944	T	0.06661	-1.0814	9	0.40728	T	0.16	.	7.9261	0.29876	0.0:0.7776:0.0:0.2224	.	117	Q96BV0	ZN775_HUMAN	R	117	ENSP00000419336:S117R;ENSP00000330838:S117R;ENSP00000417483:S117R	ENSP00000330838:S117R	S	+	3	2	ZNF775	149724853	0.000000	0.05858	1.000000	0.80357	0.996000	0.88848	-0.007000	0.12810	1.173000	0.42796	0.555000	0.69702	AGC	.		0.667	ZNF775-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350679.1	NM_173680	
ASB10	136371	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	150873649	150873649	+	Splice_Site	SNP	C	C	A			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr7:150873649C>A	ENST00000420175.2	-	4	1243		c.e4+1		GBX1_ENST00000475831.1_5'Flank|ASB10_ENST00000434669.1_Intron|ASB10_ENST00000422024.1_Splice_Site|ASB10_ENST00000377867.3_Splice_Site|ASB10_ENST00000275838.1_Intron			Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10						intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGGAATCTGACCTGCAGAGTT	0.577																																					.		.											.	ASB10-226	0			c.1173+1G>T						.						34.0	37.0	36.0					7																	150873649		692	1591	2283	SO:0001630	splice_region_variant	136371	exon5			ATCTGACCTGCAG	AK055536	CCDS5921.2, CCDS47749.1, CCDS47750.1, CCDS47749.2, CCDS47750.2	7q35	2014-02-04	2011-01-25		ENSG00000146926	ENSG00000146926		"""Ankyrin repeat domain containing"""	17185	protein-coding gene	gene with protein product		615054	"""ankyrin repeat and SOCS box-containing 10"", ""glaucoma 1, open angle, F (adult-onset)"""	GLC1F		22156576	Standard	NM_080871		Approved		uc003wjm.1	Q8WXI3	OTTHUMG00000157013	ENST00000420175.2:c.1218+1G>T	7.37:g.150873649C>A		234	0		288	133	NM_080871	0	0	0	0	0	A0AVH0|Q6ZUL6	Splice_Site	SNP	ENST00000420175.2	37	CCDS47750.2	.	.	.	.	.	.	.	.	.	.	C	24.9	4.586167	0.86851	.	.	ENSG00000146926	ENST00000377867;ENST00000422024;ENST00000420175	.	.	.	4.62	4.62	0.57501	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8245	0.85927	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ASB10	150504582	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	6.240000	0.72363	2.284000	0.76573	0.561000	0.74099	.	.		0.577	ASB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347096.3	NM_080871	Intron
UBE3C	9690	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	157041208	157041208	+	Silent	SNP	C	C	T			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr7:157041208C>T	ENST00000348165.5	+	19	2988	c.2628C>T	c.(2626-2628)taC>taT	p.Y876Y		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	876	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		TGAAGAGCTACGAAGACGATG	0.522																																					p.Y876Y		.											.	UBE3C-704	0			c.C2628T						.						171.0	174.0	173.0					7																	157041208		2203	4300	6503	SO:0001819	synonymous_variant	9690	exon19			GAGCTACGAAGAC	AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.2628C>T	7.37:g.157041208C>T		90	0		109	7	NM_014671	0	0	11	11	0	A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Silent	SNP	ENST00000348165.5	37	CCDS34789.1																																																																																			.		0.522	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348108.1	NM_014671	
CSMD3	114788	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	114186110	114186110	+	Missense_Mutation	SNP	G	G	A	rs201775807		TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr8:114186110G>A	ENST00000297405.5	-	4	794	c.550C>T	c.(550-552)Cca>Tca	p.P184S	CSMD3_ENST00000519485.1_5'Flank|CSMD3_ENST00000455883.2_Missense_Mutation_p.P184S|CSMD3_ENST00000343508.3_Missense_Mutation_p.P144S|CSMD3_ENST00000352409.3_Missense_Mutation_p.P184S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	184	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CCTTTGGGTGGAACACCAGGA	0.423										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																											p.P184S		.											.	CSMD3-1132	0			c.C550T						.						85.0	79.0	81.0					8																	114186110		2203	4300	6503	SO:0001583	missense	114788	exon4			TGGGTGGAACACC	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.550C>T	8.37:g.114186110G>A	ENSP00000297405:p.Pro184Ser	50	0		78	31	NM_052900	0	0	0	0	0	Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.177304	0.38413	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883;ENST00000352409	T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13	5.1	5.1	0.69264	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	U	0.000019	T	0.74207	0.3686	M	0.84156	2.68	0.33509	D	0.590939	B;D;P;B	0.55385	0.392;0.971;0.58;0.253	B;P;B;B	0.55455	0.315;0.776;0.254;0.15	T	0.81150	-0.1064	10	0.33940	T	0.23	.	12.9254	0.58257	0.0:0.0:0.838:0.162	.	184;184;184;144	Q7Z407-3;Q7Z407-4;Q7Z407;Q7Z407-2	.;.;CSMD3_HUMAN;.	S	144;184;184;184	ENSP00000345799:P144S;ENSP00000297405:P184S;ENSP00000412263:P184S;ENSP00000343124:P184S	ENSP00000297405:P184S	P	-	1	0	CSMD3	114255286	1.000000	0.71417	1.000000	0.80357	0.208000	0.24298	4.623000	0.61247	2.537000	0.85549	0.655000	0.94253	CCA	G|0.999;C|0.001		0.423	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	
PLEC	5339	hgsc.bcm.edu	37	8	145001588	145001588	+	Missense_Mutation	SNP	C	C	T	rs11136334	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr8:145001588C>T	ENST00000322810.4	-	27	4326	c.4157G>A	c.(4156-4158)cGg>cAg	p.R1386Q	PLEC_ENST00000345136.3_Missense_Mutation_p.R1249Q|PLEC_ENST00000436759.2_Missense_Mutation_p.R1276Q|PLEC_ENST00000357649.2_Missense_Mutation_p.R1253Q|PLEC_ENST00000356346.3_Missense_Mutation_p.R1235Q|PLEC_ENST00000354958.2_Missense_Mutation_p.R1227Q|PLEC_ENST00000354589.3_Missense_Mutation_p.R1249Q|PLEC_ENST00000527096.1_Missense_Mutation_p.R1272Q|PLEC_ENST00000398774.2_Missense_Mutation_p.R1217Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1386	Globular 1.		R -> Q (in dbSNP:rs11136334).		apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CTGCTCCTGCCGCAGCTGCTC	0.736													C|||	1156	0.230831	0.028	0.2954	5008	,	,		13418	0.1429		0.4274	False		,,,				2504	0.3476				p.R1386Q		.											.	PLEC-141	0			c.G4157A						.	C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	388,3674		38,312,1681	12.0	16.0	15.0		3746,3758,3746,3650,4157,3680,3704,3827	-0.7	1.0	8	dbSNP_120	15	3413,4885		747,1919,1483	no	missense,missense,missense,missense,missense,missense,missense,missense	PLEC	NM_201384.1,NM_201383.1,NM_201382.2,NM_201381.1,NM_201380.2,NM_201379.1,NM_201378.2,NM_000445.3	43,43,43,43,43,43,43,43	785,2231,3164	TT,TC,CC		41.1304,9.5519,30.7524	benign,benign,benign,benign,benign,benign,benign,benign	1249/4548,1253/4552,1249/4548,1217/4516,1386/4685,1227/4526,1235/4534,1276/4575	145001588	3801,8559	2031	4149	6180	SO:0001583	missense	5339	exon27			TCCTGCCGCAGCT	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.4157G>A	8.37:g.145001588C>T	ENSP00000323856:p.Arg1386Gln	1	0		11	4	NM_201380	0	0	0	0	0	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	CCDS43772.1	536	0.2454212454212454	15	0.03048780487804878	108	0.2983425414364641	94	0.16433566433566432	319	0.420844327176781	C	12.61	1.989397	0.35131	0.095519	0.411304	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38;1.38;1.38;1.38;1.38	5.1	-0.662	0.11413	.	1.260670	0.05768	N	0.606168	T	0.00012	0.0000	N	0.02011	-0.69	0.41093	P	0.014382000000000006	B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	T	0.44605	-0.9317	9	0.19590	T	0.45	.	4.6892	0.12772	0.2556:0.2308:0.0:0.5136	rs11136334	1276;1235;1227;1386;1217;1249;1253;1249	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	Q	1249;1253;1249;1217;1386;1227;1235;1276;1272	ENSP00000344848:R1249Q;ENSP00000350277:R1253Q;ENSP00000346602:R1249Q;ENSP00000381756:R1217Q;ENSP00000323856:R1386Q;ENSP00000347044:R1227Q;ENSP00000348702:R1235Q;ENSP00000388180:R1276Q;ENSP00000434583:R1272Q	ENSP00000323856:R1386Q	R	-	2	0	PLEC	145073576	0.001000	0.12720	0.979000	0.43373	0.833000	0.47200	0.002000	0.13061	-0.040000	0.13580	-0.369000	0.07265	CGG	C|0.707;T|0.293		0.736	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445	
OPLAH	26873	hgsc.bcm.edu	37	8	145107390	145107390	+	Missense_Mutation	SNP	C	C	T	rs185836803	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr8:145107390C>T	ENST00000426825.1	-	23	3346	c.3265G>A	c.(3265-3267)Gtc>Atc	p.V1089I	CTD-3065J16.6_ENST00000561181.1_RNA|OPLAH_ENST00000534424.1_5'UTR|CTD-3065J16.6_ENST00000528912.1_RNA	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	1089				QRVVDV -> NAWWMF (in Ref. 4; AAB81519). {ECO:0000305}.	glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	5-oxoprolinase (ATP-hydrolyzing) activity (GO:0017168)|ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCCAGGATGACATCCACCACG	0.746													C|||	20	0.00399361	0.0008	0.0101	5008	,	,		10202	0.0		0.0109	False		,,,				2504	0.001				p.V1089I		.											.	OPLAH-68	0			c.G3265A						.	C	ILE/VAL	6,3568		0,6,1781	4.0	5.0	5.0		3265	4.4	1.0	8		5	61,7691		0,61,3815	no	missense	OPLAH	NM_017570.3	29	0,67,5596	TT,TC,CC		0.7869,0.1679,0.5916	probably-damaging	1089/1289	145107390	67,11259	1787	3876	5663	SO:0001583	missense	26873	exon23			GGATGACATCCAC	AF024672, AB122018	CCDS75802.1	8q24.3	2010-11-23			ENSG00000178814	ENSG00000178814	3.5.2.9		8149	protein-coding gene	gene with protein product		614243				14993790	Standard	NM_017570		Approved	OPLA, 5-Opase	uc003zar.3	O14841		ENST00000426825.1:c.3265G>A	8.37:g.145107390C>T	ENSP00000475943:p.Val1089Ile	0	0		21	15	NM_017570	0	0	14	30	16	A5PKY8|Q75W65|Q9Y4Q0	Missense_Mutation	SNP	ENST00000426825.1	37		4	0.0018315018315018315	0	0.0	2	0.0055248618784530384	0	0.0	2	0.002638522427440633	C	14.93	2.683579	0.47991	0.001679	0.007869	ENSG00000178814	ENST00000426825	.	.	.	4.44	4.44	0.53790	.	0.000000	0.85682	D	0.000000	T	0.70675	0.3251	.	.	.	0.35089	D	0.764157	D	0.61697	0.99	D	0.66497	0.944	T	0.80462	-0.1372	7	0.56958	D	0.05	.	14.8924	0.70620	0.0:1.0:0.0:0.0	.	1089	O14841	OPLA_HUMAN	I	1089	.	ENSP00000412071:V1089I	V	-	1	0	OPLAH	145179378	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	4.973000	0.63763	2.164000	0.68074	0.643000	0.83706	GTC	C|0.998;T|0.002		0.746	OPLAH-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017570	
TUSC1	286319	hgsc.bcm.edu	37	9	25678122	25678122	+	Silent	SNP	G	G	C	rs72631814	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr9:25678122G>C	ENST00000358022.3	-	1	734	c.198C>G	c.(196-198)gcC>gcG	p.A66A		NM_001004125.2	NP_001004125.1	Q2TAM9	TUSC1_HUMAN	tumor suppressor candidate 1	66										kidney(1)	1	all_hematologic(1;0.197)	all_neural(3;5.42e-18)|Glioma(3;5.54e-17)		GBM - Glioblastoma multiforme(1;1.51e-108)|Lung(42;2.88e-14)|LUSC - Lung squamous cell carcinoma(38;3.16e-11)		CCGCCAGGTCGGCAAACCGCT	0.776													G|||	885	0.176717	0.1324	0.1772	5008	,	,		7019	0.1151		0.3002	False		,,,				2504	0.1728				p.A66A	Pancreas(19;648 672 25630 30820 31331)	.											.	TUSC1-90	0			c.C198G						.	G		389,3633		24,341,1646	6.0	6.0	6.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	198	0.6	1.0	9	dbSNP_130	6	1826,6086		225,1376,2355	no	coding-synonymous	TUSC1	NM_001004125.2		249,1717,4001	CC,CG,GG		23.0789,9.6718,18.5604		66/213	25678122	2215,9719	2011	3956	5967	SO:0001819	synonymous_variant	286319	exon1			CAGGTCGGCAAAC	AY168647	CCDS34999.1	9p21.2	2014-05-22			ENSG00000198680	ENSG00000198680			31010	protein-coding gene	gene with protein product		610529				15208665	Standard	NM_001004125		Approved	TSG-9	uc003zpx.3	Q2TAM9	OTTHUMG00000159591	ENST00000358022.3:c.198C>G	9.37:g.25678122G>C		0	0		10	10	NM_001004125	0	0	0	3	3	A0PJ78|Q67GI3|Q86SS1|Q8TAH8	Silent	SNP	ENST00000358022.3	37	CCDS34999.1																																																																																			G|0.807;C|0.193		0.776	TUSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356351.1	NM_001004125	
UBAP2	55833	bcgsc.ca	37	9	33941759	33941759	+	Missense_Mutation	SNP	T	T	C	rs307658	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr9:33941759T>C	ENST00000379238.1	-	16	1934	c.1817A>G	c.(1816-1818)aAt>aGt	p.N606S	UBAP2_ENST00000360802.1_Missense_Mutation_p.N606S|UBAP2_ENST00000449054.1_Missense_Mutation_p.N606S|UBAP2_ENST00000379239.4_Missense_Mutation_p.N339S|UBAP2_ENST00000418786.2_Missense_Mutation_p.N553S|UBAP2_ENST00000379225.1_Missense_Mutation_p.N239S|UBAP2_ENST00000539807.1_Missense_Mutation_p.N361S					ubiquitin associated protein 2									p.N606S(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		ACTAGCAGAATTCAGTGATGA	0.448													C|||	1857	0.370807	0.5083	0.268	5008	,	,		18167	0.1726		0.3837	False		,,,				2504	0.4489				p.N606S		.											.	UBAP2-94	1	Substitution - Missense(1)	stomach(1)	c.A1817G						.	C	SER/ASN	2060,2346	607.3+/-390.9	478,1104,621	174.0	159.0	164.0		1817	5.8	1.0	9	dbSNP_79	164	3291,5309	646.8+/-400.3	648,1995,1657	yes	missense	UBAP2	NM_018449.2	46	1126,3099,2278	CC,CT,TT		38.2674,46.7544,41.1425	benign	606/1120	33941759	5351,7655	2203	4300	6503	SO:0001583	missense	55833	exon16			GCAGAATTCAGTG	AB040924	CCDS6547.1, CCDS75828.1	9p11.2	2008-02-05			ENSG00000137073	ENSG00000137073			14185	protein-coding gene	gene with protein product						8871400	Standard	NM_018449		Approved	KIAA1491, bA176F3.5, FLJ22435	uc003ztq.1	Q5T6F2	OTTHUMG00000000427	ENST00000379238.1:c.1817A>G	9.37:g.33941759T>C	ENSP00000368540:p.Asn606Ser	125	1		85	4	NM_018449	0	0	3	3	0		Missense_Mutation	SNP	ENST00000379238.1	37	CCDS6547.1	778	0.35622710622710624	248	0.5040650406504065	106	0.292817679558011	114	0.1993006993006993	310	0.40897097625329815	C	1.094	-0.663234	0.03428	0.467544	0.382674	ENSG00000137073	ENST00000379238;ENST00000449054;ENST00000360802;ENST00000431417;ENST00000379239;ENST00000539807;ENST00000418786;ENST00000379225	T;T;T;T;T;T;T	0.20738	2.79;2.79;2.79;2.58;2.59;2.28;2.05	5.76	5.76	0.90799	.	0.521330	0.23587	N	0.046596	T	0.00012	0.0000	N	0.01015	-1.05	0.58432	P	4.000000000004E-6	B;B;B;B;B;B;B;B	0.17038	0.0;0.006;0.0;0.0;0.0;0.001;0.003;0.02	B;B;B;B;B;B;B;B	0.06405	0.001;0.0;0.0;0.0;0.0;0.0;0.0;0.002	T	0.41124	-0.9526	9	0.02654	T	1	-4.2248	12.9291	0.58276	0.0:0.866:0.0:0.134	rs307658;rs601694;rs1626808;rs52833981;rs60695207;rs307658	553;531;361;339;515;239;531;606	E7EWG4;F5H4D5;F5H2U4;A6NCA8;F5H2C8;A2A306;B4DH66;Q5T6F2	.;.;.;.;.;.;.;UBAP2_HUMAN	S	606;606;606;515;339;361;553;239	ENSP00000368540:N606S;ENSP00000416932:N606S;ENSP00000354039:N606S;ENSP00000368541:N339S;ENSP00000439329:N361S;ENSP00000404436:N553S;ENSP00000368527:N239S	ENSP00000354039:N606S	N	-	2	0	UBAP2	33931759	1.000000	0.71417	1.000000	0.80357	0.356000	0.29392	2.117000	0.41939	1.449000	0.47699	-0.119000	0.15052	AAT	T|0.481;G|0.077		0.448	UBAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001071.1	NM_018449	
TLN1	7094	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	35716437	35716437	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr9:35716437C>T	ENST00000314888.9	-	20	2928	c.2575G>A	c.(2575-2577)Gct>Act	p.A859T	TLN1_ENST00000540444.1_Missense_Mutation_p.A859T	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	859					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ATCTTGGCAGCACTTAAGAGC	0.562																																					p.A859T		.											.	TLN1-609	0			c.G2575A						.						168.0	143.0	152.0					9																	35716437		2203	4300	6503	SO:0001583	missense	7094	exon20			TGGCAGCACTTAA	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.2575G>A	9.37:g.35716437C>T	ENSP00000316029:p.Ala859Thr	148	0		101	86	NM_006289	0	0	2	7	5	A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	37	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.039753	0.93630	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.71817	-0.59;-0.6	5.91	5.0	0.66597	.	0.049023	0.85682	D	0.000000	T	0.77980	0.4212	L	0.60067	1.865	0.80722	D	1	P	0.45672	0.864	P	0.53401	0.725	T	0.78831	-0.2049	10	0.49607	T	0.09	-10.119	17.1715	0.86832	0.0:0.8739:0.1261:0.0	.	859	Q9Y490	TLN1_HUMAN	T	859	ENSP00000316029:A859T;ENSP00000442981:A859T	ENSP00000316029:A859T	A	-	1	0	TLN1	35706437	1.000000	0.71417	0.942000	0.38095	0.997000	0.91878	7.818000	0.86416	1.485000	0.48380	0.655000	0.94253	GCT	.		0.562	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289	
VPS13A	23230	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	79954597	79954597	+	Missense_Mutation	SNP	A	A	T			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr9:79954597A>T	ENST00000360280.3	+	48	6804	c.6544A>T	c.(6544-6546)Agt>Tgt	p.S2182C	VPS13A_ENST00000376636.3_Missense_Mutation_p.S2143C|VPS13A_ENST00000376634.4_Missense_Mutation_p.S2182C|VPS13A_ENST00000357409.5_Missense_Mutation_p.S2182C	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2182					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TAGTTTTGTCAGTTTTACTTG	0.348																																					p.S2182C		.											.	VPS13A-161	0			c.A6544T						.						111.0	99.0	103.0					9																	79954597		2203	4300	6503	SO:0001583	missense	23230	exon48			TTTGTCAGTTTTA	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.6544A>T	9.37:g.79954597A>T	ENSP00000353422:p.Ser2182Cys	103	1		100	49	NM_001018038	0	0	0	0	0	Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	A	11.75	1.732835	0.30684	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.50001	0.93;0.76;0.84;0.93	5.96	5.96	0.96718	.	0.652135	0.16114	N	0.228957	T	0.49115	0.1538	L	0.36672	1.1	0.80722	D	1	B;P;P;P	0.50528	0.002;0.77;0.936;0.852	B;P;P;P	0.48627	0.015;0.497;0.584;0.487	T	0.43589	-0.9382	10	0.44086	T	0.13	.	16.4221	0.83766	1.0:0.0:0.0:0.0	.	2143;2182;2182;2182	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	C	2182;2143;2182;2182	ENSP00000365821:S2182C;ENSP00000365823:S2143C;ENSP00000353422:S2182C;ENSP00000349985:S2182C	ENSP00000349985:S2182C	S	+	1	0	VPS13A	79144417	0.992000	0.36948	0.965000	0.40720	0.358000	0.29455	5.638000	0.67861	2.283000	0.76528	0.477000	0.44152	AGT	.		0.348	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186	
SEC61B	10952	hgsc.bcm.edu	37	9	101984160	101984160	+	5'Flank	SNP	C	C	G	rs180849348	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr9:101984160C>G	ENST00000223641.4	+	0	0				SEC61B_ENST00000498603.1_5'Flank|ALG2_ENST00000319033.6_5'Flank|ALG2_ENST00000476832.1_Missense_Mutation_p.G6A	NM_006808.2	NP_006799.1	P60468	SC61B_HUMAN	Sec61 beta subunit						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)|cellular protein metabolic process (GO:0044267)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|gene expression (GO:0010467)|protein import into nucleus, translocation (GO:0000060)|retrograde protein transport, ER to cytosol (GO:0030970)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum Sec complex (GO:0031205)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	epidermal growth factor binding (GO:0048408)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)			kidney(1)|large_intestine(1)	2		Acute lymphoblastic leukemia(62;0.0559)				CCGTTCCCGGCCCTGCTCCTC	0.716													C|||	13	0.00259585	0.0	0.0058	5008	,	,		13219	0.0		0.008	False		,,,				2504	0.001				p.G6A		.											.	ALG2-92	0			c.G17C						.	C	ALA/GLY	9,4289		0,9,2140	8.0	11.0	10.0		17	-9.3	0.0	9		10	63,8427		0,63,4182	no	missense	ALG2	NM_033087.3	60	0,72,6322	GG,GC,CC		0.742,0.2094,0.563	benign	6/417	101984160	72,12716	2149	4245	6394	SO:0001631	upstream_gene_variant	85365	exon1			TCCCGGCCCTGCT	L25085	CCDS6741.1	9q22.32-q31.3	2009-03-19			ENSG00000106803	ENSG00000106803			16993	protein-coding gene	gene with protein product		609214				8107851, 10212142	Standard	NM_006808		Approved		uc004azh.3	P60468	OTTHUMG00000020354		9.37:g.101984160C>G	Exception_encountered	0	0		7	6	NM_033087	0	0	0	5	5	P38390|P38391|Q6IBC1	Missense_Mutation	SNP	ENST00000223641.4	37	CCDS6741.1	6	0.0027472527472527475	0	0.0	2	0.0055248618784530384	0	0.0	4	0.005277044854881266	C	5.553	0.286952	0.10513	0.002094	0.00742	ENSG00000119523	ENST00000476832	T	0.75704	-0.96	4.66	-9.32	0.00643	.	4.053130	0.00559	N	0.000271	T	0.43433	0.1247	N	0.08118	0	0.09310	N	0.999995	B	0.02656	0.0	B	0.01281	0.0	T	0.52548	-0.8561	10	0.10377	T	0.69	-0.3523	14.1304	0.65250	0.0:0.5322:0.3647:0.103	.	6	Q9H553	ALG2_HUMAN	A	6	ENSP00000417764:G6A	ENSP00000417764:G6A	G	-	2	0	ALG2	101023981	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.560000	0.02160	-3.366000	0.00178	-3.473000	0.00035	GGC	C|0.996;G|0.004		0.716	SEC61B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053391.1	NM_006808	
SNAPC4	6621	broad.mit.edu	37	9	139277995	139277997	+	In_Frame_Del	DEL	GCT	GCT	-	rs147271628|rs34427285|rs35266724|rs34222232	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr9:139277995_139277997delGCT	ENST00000298532.2	-	15	1992_1994	c.1624_1626delAGC	c.(1624-1626)agcdel	p.S542del		NM_003086.2	NP_003077.2			small nuclear RNA activating complex, polypeptide 4, 190kDa									p.S542delS(2)		biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		CGTCCTCCTCgctgctgctgctg	0.69														955	0.190695	0.1808	0.3184	5008	,	,		11493	0.0565		0.2356	False		,,,				2504	0.2055				p.542_542del		.											.	SNAPC4-90	2	Deletion - In frame(2)	prostate(1)|central_nervous_system(1)	c.1624_1626del						.																																			SO:0001651	inframe_deletion	6621	exon15			CTCCTCGCTGCTG	AF032387	CCDS6998.1	9q34.3	2008-07-21	2002-08-29		ENSG00000165684	ENSG00000165684			11137	protein-coding gene	gene with protein product		602777	"""small nuclear RNA activating complex, polypeptide 4, 190kD"""			9418884	Standard	XM_005266096		Approved	SNAP190, PTFalpha, FLJ13451	uc004chh.3	Q5SXM2	OTTHUMG00000020929	ENST00000298532.2:c.1624_1626delAGC	9.37:g.139278004_139278006delGCT	ENSP00000298532:p.Ser542del	25	0		173	7	NM_003086	0	0	0	0	0		In_Frame_Del	DEL	ENST00000298532.2	37	CCDS6998.1																																																																																			.		0.690	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055071.1	NM_003086	
GLRA2	2742	bcgsc.ca	37	X	14627144	14627144	+	Silent	SNP	T	T	C	rs2229963	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chrX:14627144T>C	ENST00000218075.4	+	7	1277	c.747T>C	c.(745-747)caT>caC	p.H249H	GLRA2_ENST00000355020.4_Silent_p.H249H|GLRA2_ENST00000443437.2_Silent_p.H160H	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	249					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)|synapse assembly (GO:0007416)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)|Lindane(DB00431)	TCAAGTTTCATCTGGAACGCC	0.383													T|||	820	0.217219	0.2277	0.1499	3775	,	,		13207	0.0139		0.2326	False		,,,				2504	0.1708				p.H249H		.											.	GLRA2-131	0			c.T747C						.	T	,,,	1075,2760		122,665,166,845,405	101.0	96.0	98.0		747,747,480,747	2.8	1.0	X	dbSNP_98	98	2050,4678		222,1044,562,1162,1310	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	GLRA2	NM_001118885.1,NM_001118886.1,NM_001171942.1,NM_002063.3	,,,	344,1709,728,2007,1715	CC,CT,C,TT,T		30.4697,28.0313,29.5844	,,,	249/453,249/453,160/364,249/453	14627144	3125,7438	2203	4300	6503	SO:0001819	synonymous_variant	2742	exon7			GTTTCATCTGGAA		CCDS14160.1, CCDS48085.1, CCDS55371.1	Xp22.2	2012-02-07			ENSG00000101958	ENSG00000101958		"""Ligand-gated ion channels / Glycine receptors"""	4327	protein-coding gene	gene with protein product		305990		GLR			Standard	NM_002063		Approved		uc010nep.3	P23416	OTTHUMG00000021166	ENST00000218075.4:c.747T>C	X.37:g.14627144T>C		123	0		158	7	NM_002063	0	0	0	0	0	A8K0J6|B2R6I8|B7Z4F5|J3KQ59|Q53YX7|Q6ICQ0|Q99862	Silent	SNP	ENST00000218075.4	37	CCDS14160.1																																																																																			0|0.003;C|0.269		0.383	GLRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055829.1		
IL13RA1	3597	broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	117925779	117925779	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chrX:117925779G>T	ENST00000371666.3	+	11	1313	c.1246G>T	c.(1246-1248)Gta>Tta	p.V416L	IL13RA1_ENST00000371637.3_Missense_Mutation_p.V215L	NM_001560.2	NP_001551.1	P78552	I13R1_HUMAN	interleukin 13 receptor, alpha 1	416					cell surface receptor signaling pathway (GO:0007166)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of immunoglobulin production (GO:0002639)	interleukin-13 receptor complex (GO:0005898)|plasma membrane (GO:0005886)	interleukin-13 receptor activity (GO:0016515)			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	12						AACCGACTCTGTAGTGCTGAT	0.398																																					p.V416L		.											.	IL13RA1-554	0			c.G1246T						.						193.0	167.0	176.0					X																	117925779		2203	4300	6503	SO:0001583	missense	3597	exon11			GACTCTGTAGTGC	U62858	CCDS14573.1	Xq24	2008-02-05			ENSG00000131724	ENSG00000131724		"""Interleukins and interleukin receptors"", ""CD molecules"""	5974	protein-coding gene	gene with protein product	"""IL13 receptor alpha-1 chain"", ""CD213a1 antigen"""	300119				8910586, 9013879	Standard	NM_001560		Approved	IL-13Ra, NR4, CD213a1	uc004eqs.3	P78552	OTTHUMG00000022258	ENST00000371666.3:c.1246G>T	X.37:g.117925779G>T	ENSP00000360730:p.Val416Leu	106	1		141	48	NM_001560	0	0	12	12	0	O95646|Q5JSL4|Q99656|Q9UDY5	Missense_Mutation	SNP	ENST00000371666.3	37	CCDS14573.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.708735	0.48517	.	.	ENSG00000131724	ENST00000371666;ENST00000371637	D	0.91631	-2.88	5.18	4.32	0.51571	.	0.199967	0.32273	N	0.006322	D	0.93595	0.7955	L	0.53249	1.67	0.26836	N	0.968482	D	0.76494	0.999	D	0.76071	0.987	D	0.86849	0.2022	10	0.38643	T	0.18	-12.9856	9.1409	0.36903	0.1044:0.0:0.8956:0.0	.	416	P78552	I13R1_HUMAN	L	416;215	ENSP00000360730:V416L	ENSP00000360700:V215L	V	+	1	0	IL13RA1	117809807	1.000000	0.71417	0.574000	0.28523	0.970000	0.65996	4.431000	0.59915	1.085000	0.41206	0.600000	0.82982	GTA	.		0.398	IL13RA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058009.1	NM_001560	
BCORL1	63035	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	129155104	129155104	+	Nonsense_Mutation	SNP	C	C	T			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chrX:129155104C>T	ENST00000218147.7	+	5	3783	c.3586C>T	c.(3586-3588)Cga>Tga	p.R1196*	BCORL1_ENST00000303743.5_Nonsense_Mutation_p.R1196*|BCORL1_ENST00000540052.1_Nonsense_Mutation_p.R1196*|BCORL1_ENST00000359304.2_Nonsense_Mutation_p.R1196*			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1196					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						TCCAGGAAAACGAGCCGACAG	0.647																																					p.R1196X		.											.	BCORL1-294	0			c.C3586T						.						30.0	31.0	31.0					X																	129155104		2201	4299	6500	SO:0001587	stop_gained	63035	exon4			GGAAAACGAGCCG	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.3586C>T	X.37:g.129155104C>T	ENSP00000218147:p.Arg1196*	208	1		321	158	NM_021946	0	0	1	2	1	B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Nonsense_Mutation	SNP	ENST00000218147.7	37	CCDS14616.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	38|38	7.111621|7.111621	0.98070|0.98070	.|.	.|.	ENSG00000085185|ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052;ENST00000456822|ENST00000441294	.|.	.|.	.|.	6.17|6.17	4.25|4.25	0.50352|0.50352	.|.	0.000000|.	0.29900|.	N|.	0.010906|.	.|T	.|0.54029	.|0.1833	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.63906	.|-0.6531	.|3	0.02654|.	T|.	1|.	-0.981|-0.981	10.5338|10.5338	0.44992|0.44992	0.1419:0.7821:0.0:0.076|0.1419:0.7821:0.0:0.076	.|.	.|.	.|.	.|.	X|M	1196;1196;1196;1196;796|631	.|.	ENSP00000218147:R1196X|.	R|T	+|+	1|2	2|0	BCORL1|BCORL1	128982785|128982785	0.998000|0.998000	0.40836|0.40836	0.982000|0.982000	0.44146|0.44146	0.506000|0.506000	0.33950|0.33950	1.655000|1.655000	0.37345|0.37345	1.354000|1.354000	0.45846|0.45846	0.600000|0.600000	0.82982|0.82982	CGA|ACG	.		0.647	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946	
MAP7D3	79649	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	135313873	135313873	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chrX:135313873C>T	ENST00000316077.9	-	8	1463	c.1243G>A	c.(1243-1245)Gaa>Aaa	p.E415K	MAP7D3_ENST00000495432.1_5'Flank|MAP7D3_ENST00000370663.5_Missense_Mutation_p.E397K|MAP7D3_ENST00000370661.1_Missense_Mutation_p.E380K	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	415					microtubule cytoskeleton organization (GO:0000226)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					GGAGGTGCTTCCAGGCTCCCC	0.622																																					p.E415K		.											.	MAP7D3-110	0			c.G1243A						.						66.0	65.0	65.0					X																	135313873		1954	4107	6061	SO:0001583	missense	79649	exon8			GTGCTTCCAGGCT	AL832120	CCDS44004.1, CCDS55508.1, CCDS55509.1	Xq26.3	2014-08-13			ENSG00000129680	ENSG00000129680			25742	protein-coding gene	gene with protein product		300930				24927501	Standard	NM_001173516		Approved	FLJ12649	uc004ezt.3	Q8IWC1	OTTHUMG00000022507	ENST00000316077.9:c.1243G>A	X.37:g.135313873C>T	ENSP00000318086:p.Glu415Lys	148	1		183	90	NM_024597	0	0	0	1	1	A2A2J0|A6NCZ7|A6NHR4|B4DWD2|H7BY77|Q5JXI5|Q5JXI6|Q6P2S1|Q9H9M8	Missense_Mutation	SNP	ENST00000316077.9	37	CCDS44004.1	.	.	.	.	.	.	.	.	.	.	C	14.09	2.430486	0.43122	.	.	ENSG00000129680	ENST00000370661;ENST00000316077;ENST00000370663;ENST00000370660	T;T;T;T	0.74002	3.15;-0.8;-0.8;3.15	4.98	3.21	0.36854	.	.	.	.	.	T	0.59321	0.2185	L	0.31578	0.945	0.09310	N	1	P;P;P;P	0.47191	0.826;0.891;0.826;0.891	B;B;B;B	0.41813	0.202;0.367;0.202;0.367	T	0.46247	-0.9205	9	0.30078	T	0.28	-4.5419	5.1583	0.15046	0.0:0.634:0.1682:0.1978	.	397;374;415;380	B4DWD2;Q8IWC1-2;Q8IWC1;Q8IWC1-3	.;.;MA7D3_HUMAN;.	K	380;415;397;374	ENSP00000359695:E380K;ENSP00000318086:E415K;ENSP00000359697:E397K;ENSP00000359694:E374K	ENSP00000318086:E415K	E	-	1	0	MAP7D3	135141539	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.397000	0.07269	0.580000	0.29522	0.600000	0.82982	GAA	.		0.622	MAP7D3-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058487.2		
PARD6A	50855	broad.mit.edu	37	16	67695546	67695547	+	Frame_Shift_Ins	INS	-	-	C	rs188685722		TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr16:67695546_67695547insC	ENST00000219255.3	+	2	332_333	c.252_253insC	c.(253-255)cccfs	p.P85fs	PARD6A_ENST00000458121.2_Frame_Shift_Ins_p.P85fs|PARD6A_ENST00000602551.1_Intron|ACD_ENST00000393919.4_5'Flank|ACD_ENST00000219251.8_5'Flank|ENKD1_ENST00000602409.1_5'Flank			Q9NPB6	PAR6A_HUMAN	par-6 family cell polarity regulator alpha	85	Interaction with PRKCI and PRKCZ.|OPR.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell junction assembly (GO:0034329)|cell-cell junction maintenance (GO:0045217)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|cell projection (GO:0042995)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)	GTP-dependent protein binding (GO:0030742)|Rho GTPase binding (GO:0017048)|transcription factor binding (GO:0008134)			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		TGGCCAGCGGGCCCCCGCCACT	0.658																																					p.G84fs		.											.	PARD6A-91	0			c.252_253insC						.																																			SO:0001589	frameshift_variant	50855	exon2			CAGCGGGCCCCCG		CCDS10843.1, CCDS45514.1	16q22.1-q22.3	2013-08-28	2013-08-28		ENSG00000102981	ENSG00000102981			15943	protein-coding gene	gene with protein product		607484	"""par-6 (partitioning defective 6, C.elegans) homolog alpha"", ""par-6 partitioning defective 6 homolog alpha (C. elegans)"""			9482110, 11260256	Standard	XM_005255977		Approved	PAR-6, PAR-6A, TAX40, PAR6alpha, TIP-40	uc002ett.3	Q9NPB6	OTTHUMG00000137534	ENST00000219255.3:c.257dupC	16.37:g.67695551_67695551dupC	ENSP00000219255:p.Pro85fs	7	0		102	7	NM_016948	0	0	0	0	0	O14911|Q9NPJ7	Frame_Shift_Ins	INS	ENST00000219255.3	37	CCDS10843.1																																																																																			.		0.658	PARD6A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268863.2	NM_016948	
TMEM247	388946	hgsc.bcm.edu	37	2	46707846	46707847	+	In_Frame_Ins	INS	-	-	GAGCGGCAGCACGAGGTGGTGATGGAGCAGCTGCAGCGG			TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr2:46707846_46707847insGAGCGGCAGCACGAGGTGGTGATGGAGCAGCTGCAGCGG	ENST00000434431.1	+	2	420_421	c.420_421insGAGCGGCAGCACGAGGTGGTGATGGAGCAGCTGCAGCGG	c.(421-423)gag>GAGCGGCAGCACGAGGTGGTGATGGAGCAGCTGCAGCGGgag	p.141_141E>ERQHEVVMEQLQRE		NM_001145051.2	NP_001138523.1	A6NEH6	TM247_HUMAN	transmembrane protein 247	141						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)											AGCTGCAGCGGGAGCGGCAGCA	0.663																																					p.R140delinsRERQHEVVMEQLQR		.											.	.	0			c.420_421insGAGCGGCAGCACGAGGTGGTGATGGAGCAGCTGCAGCGG						.																																			SO:0001652	inframe_insertion	388946	exon2			GCAGCGGGAGCGG		CCDS56117.1	2p21	2012-04-11			ENSG00000187600	ENSG00000187600			42967	protein-coding gene	gene with protein product							Standard	NM_001145051		Approved		uc010yod.3	A6NEH6	OTTHUMG00000153137	Exception_encountered	2.37:g.46707846_46707847insGAGCGGCAGCACGAGGTGGTGATGGAGCAGCTGCAGCGG	ENSP00000388684:p.ArgGlnHisGluValValMetGluGlnLeuGlnArgGlu141dup	63	0		326	0	NM_001145051	0	0	0	0	0		In_Frame_Ins	INS	ENST00000434431.1	37	CCDS56117.1																																																																																			.		0.663	TMEM247-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329726.1	NM_001145051	
ATXN1	6310	broad.mit.edu	37	6	16327915	16327916	+	In_Frame_Ins	INS	-	-	TGC	rs11969612|rs369629396	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr6:16327915_16327916insTGC	ENST00000244769.4	-	8	1562_1563	c.626_627insGCA	c.(625-627)cat>caGCAt	p.208_209insQ	ATXN1_ENST00000436367.1_In_Frame_Ins_p.208_209insQ	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	208	Poly-Gln.		H -> Q (in dbSNP:rs11969612).		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)	p.H209delH(2)|p.H209_H211delHQH(1)		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)				gctgatgctgatgctgctgctg	0.668																																					p.H209delinsQH		.											.	ATXN1-93	3	Deletion - In frame(3)	upper_aerodigestive_tract(1)|large_intestine(1)|prostate(1)	c.627_628insGCA						.																																			SO:0001652	inframe_insertion	6310	exon7			ATGCTGATGCTGC	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.624_626dupGCA	6.37:g.16327922_16327924dupTGC	ENSP00000244769:p.Gln209_Gln210dup	9	0		27	15	NM_001128164	0	0	0	0	0	Q17S02|Q9UJG2|Q9Y4J1	In_Frame_Ins	INS	ENST00000244769.4	37	CCDS34342.1																																																																																			.		0.668	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332	
SND1	27044	hgsc.bcm.edu	37	7	127292433	127292434	+	In_Frame_Ins	INS	-	-	TCCTCCGCGCAGAGCGGCGGC	rs552710042	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr7:127292433_127292434insTCCTCCGCGCAGAGCGGCGGC	ENST00000354725.3	+	1	200_201	c.6_7insTCCTCCGCGCAGAGCGGCGGC	c.(7-9)tcc>TCCTCCGCGCAGAGCGGCGGCtcc	p.3_3S>SSAQSGGS	AC073934.6_ENST00000490314.1_RNA	NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	3					gene silencing by RNA (GO:0031047)|osteoblast differentiation (GO:0001649)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dense body (GO:0097433)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|RISC complex (GO:0016442)	nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|transcription cofactor activity (GO:0003712)	p.A2_S3insSSAQSGG(1)		central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						CACACATGGCGTCCTCCGCGCA	0.678														52	0.0103834	0.0	0.0	5008	,	,		17286	0.0		0.004	False		,,,				2504	0.0491				p.A2delinsASSAQSGG		.											.	SND1-92	1	Insertion - In frame(1)	central_nervous_system(1)	c.6_7insTCCTCCGCGCAGAGCGGCGGC						.																																			SO:0001652	inframe_insertion	27044	exon1			CATGGCGTCCTCC		CCDS34747.1	7q31.3	2014-03-24			ENSG00000197157	ENSG00000197157		"""Tudor domain containing"""	30646	protein-coding gene	gene with protein product	"""p100 EBNA2 co-activator"", ""Tudor-SN"""	602181				7651391, 9003410, 12819296	Standard	NM_014390		Approved	TDRD11, p100	uc003vmi.3	Q7KZF4	OTTHUMG00000157560	ENST00000354725.3:c.7_27dupTCCTCCGCGCAGAGCGGCGGC	7.37:g.127292433_127292434insTCCTCCGCGCAGAGCGGCGGC	Exception_encountered	59	0		246	0	NM_014390	0	0	0	0	0	Q13122|Q96AG0	In_Frame_Ins	INS	ENST00000354725.3	37	CCDS34747.1																																																																																			.		0.678	SND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349148.1	NM_014390	
OBSCN	84033	hgsc.bcm.edu	37	1	228504669	228504670	+	Missense_Mutation	DNP	GC	GC	AT	rs61825302|rs11810627	byFrequency	TCGA-OR-A5LC-01A-11D-A29I-10	TCGA-OR-A5LC-10A-01D-A29L-10	GC	GC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac52d603-5586-46ae-8350-faf87562f84f	bbcdc4cf-36e7-4ffe-a129-924a463c3f5e	g.chr1:228504669_228504670GC>AT	ENST00000422127.1	+	51	13589_13590	c.13545_13546GC>AT	c.(13543-13548)gcGCgg>gcATgg	p.R4516W	OBSCN_ENST00000284548.11_Missense_Mutation_p.R4516W|OBSCN_ENST00000366707.4_Missense_Mutation_p.R2150W|OBSCN_ENST00000366709.4_Missense_Mutation_p.R1635W|OBSCN_ENST00000570156.2_Missense_Mutation_p.R5473W	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4516	Ig-like 46.		R -> W (in dbSNP:rs11810627).		apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGGCCTCTGCGCGGCTCACCGT	0.733																																					p.R5228W		.											.	OBSCN-403	0			c.C16417T						.																																			SO:0001583	missense	84033	exon62			TCTGCGCGGCTCA	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	Exception_encountered	1.37:g.228504669_228504670delinsAT	ENSP00000409493:p.Arg4516Trp	0	0		17	0	NM_001271223	0	0	0	0	0	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	DNP	ENST00000422127.1	37	CCDS58065.1																																																																																			C|0.643;T|0.357		0.733	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843	
