#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
LRRC8B	23507	bcgsc.ca	37	1	90049075	90049075	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr1:90049075G>T	ENST00000330947.2	+	5	1226	c.866G>T	c.(865-867)tGt>tTt	p.C289F	LRRC8B_ENST00000358200.4_Missense_Mutation_p.C289F|RP5-1007M22.2_ENST00000443562.1_RNA|LRRC8B_ENST00000439853.1_Missense_Mutation_p.C289F	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member B	289					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		GAAATCGACTGTTCAGTTGAT	0.358																																					p.C289F		.											.	LRRC8B-92	0			c.G866T						.						147.0	145.0	146.0					1																	90049075		2203	4300	6503	SO:0001583	missense	23507	exon5			TCGACTGTTCAGT	AF385436	CCDS724.1	1p22.2	2008-02-05			ENSG00000197147	ENSG00000197147			30692	protein-coding gene	gene with protein product	"""T cell activation leucine repeat rich protein"""	612888				9039502	Standard	NM_015350		Approved	TA-LRRP, KIAA0231	uc001dni.3	Q6P9F7	OTTHUMG00000010129	ENST00000330947.2:c.866G>T	1.37:g.90049075G>T	ENSP00000332674:p.Cys289Phe	51	0		32	4	NM_015350	0	0	8	8	0	D3DT28|Q6UY21|Q8N106|Q92627	Missense_Mutation	SNP	ENST00000330947.2	37	CCDS724.1	.	.	.	.	.	.	.	.	.	.	G	18.12	3.553744	0.65425	.	.	ENSG00000197147	ENST00000330947;ENST00000358200;ENST00000439853	T;T;T	0.66638	-0.22;-0.22;-0.22	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.79834	0.4514	M	0.76170	2.325	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	T	0.81656	-0.0834	10	0.87932	D	0	.	19.3136	0.94202	0.0:0.0:1.0:0.0	.	289	Q6P9F7	LRC8B_HUMAN	F	289	ENSP00000332674:C289F;ENSP00000350933:C289F;ENSP00000400704:C289F	ENSP00000332674:C289F	C	+	2	0	LRRC8B	89821663	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	9.743000	0.98849	2.629000	0.89072	0.655000	0.94253	TGT	.		0.358	LRRC8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028008.1	NM_015350	
HRNR	388697	bcgsc.ca	37	1	152189016	152189016	+	Missense_Mutation	SNP	G	G	A	rs200517377		TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr1:152189016G>A	ENST00000368801.2	-	3	5164	c.5089C>T	c.(5089-5091)Cgt>Tgt	p.R1697C	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1697					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)			GAAGACTGACGGGAGCCAGAC	0.632																																					p.R1697C		.											.	HRNR-93	0			c.C5089T						.						57.0	73.0	68.0					1																	152189016		1629	3176	4805	SO:0001583	missense	388697	exon3			ACTGACGGGAGCC	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.5089C>T	1.37:g.152189016G>A	ENSP00000357791:p.Arg1697Cys	807	13		613	35	NM_001009931	0	0	1	1	0	Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	G	3.089	-0.187379	0.06299	.	.	ENSG00000197915	ENST00000368801	T	0.01647	4.71	3.82	-7.65	0.01281	.	.	.	.	.	T	0.00440	0.0014	L	0.38175	1.15	0.09310	N	1	B	0.13594	0.008	B	0.06405	0.002	T	0.43988	-0.9357	9	0.56958	D	0.05	.	3.7438	0.08540	0.0806:0.2135:0.2435:0.4624	.	1697	Q86YZ3	HORN_HUMAN	C	1697	ENSP00000357791:R1697C	ENSP00000357791:R1697C	R	-	1	0	HRNR	150455640	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.680000	0.00395	-2.946000	0.00295	-1.447000	0.01057	CGT	.		0.632	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868	
TOR3A	64222	hgsc.bcm.edu	37	1	179051300	179051300	+	Missense_Mutation	SNP	T	T	C	rs2296377	byFrequency	TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr1:179051300T>C	ENST00000367627.3	+	1	789	c.37T>C	c.(37-39)Ttc>Ctc	p.F13L	TOR3A_ENST00000352445.6_Missense_Mutation_p.F13L	NM_022371.3	NP_071766.2	Q9H497	TOR3A_HUMAN	torsin family 3, member A	13			F -> L (in dbSNP:rs2296377). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.3}.		ATP catabolic process (GO:0006200)|chaperone mediated protein folding requiring cofactor (GO:0051085)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|urinary_tract(1)	13						TTGGCTCTTTTTCCTGCTGCT	0.751													C|||	3842	0.767173	0.9879	0.6441	5008	,	,		12722	0.6677		0.7117	False		,,,				2504	0.7157				p.F13L		.											.	TOR3A-90	0			c.T37C						.	C	LEU/PHE	3262,174		1547,168,3	2.0	3.0	3.0		37	-0.8	0.0	1	dbSNP_100	3	5365,1739		2051,1263,238	yes	missense	TOR3A	NM_022371.3	22	3598,1431,241	CC,CT,TT		24.4792,5.064,18.1499	benign	13/398	179051300	8627,1913	1718	3552	5270	SO:0001583	missense	64222	exon1			CTCTTTTTCCTGC	BC001085	CCDS1329.1	1q25.2	2008-02-05	2003-04-02		ENSG00000186283	ENSG00000186283			11997	protein-coding gene	gene with protein product		607555	"""ATP-dependant interferon responsive"""	ADIR		10644435	Standard	NM_022371		Approved	FLJ22345, ADIR2	uc001gmd.3	Q9H497	OTTHUMG00000035077	ENST00000367627.3:c.37T>C	1.37:g.179051300T>C	ENSP00000356599:p.Phe13Leu	0	0		4	4	NM_022371	0	0	0	4	4	B4DSY0|B7ZB65|Q5M7Y7|Q8WVA7|Q8WWM2|Q9H495|Q9H6E7	Missense_Mutation	SNP	ENST00000367627.3	37	CCDS1329.1	1679	0.7687728937728938	484	0.983739837398374	250	0.6906077348066298	393	0.6870629370629371	552	0.7282321899736148	C	0.033	-1.323382	0.01309	0.94936	0.755208	ENSG00000186283	ENST00000367627;ENST00000367625;ENST00000352445	T;T;T	0.35421	1.31;1.4;1.63	0.427	-0.794	0.10918	.	1.274350	0.05916	N	0.632520	T	0.00012	0.0000	N	0.00368	-1.59	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.45906	-0.9229	8	0.02654	T	1	-1.1524	.	.	.	rs2296377;rs17844883;rs17856371;rs17857600;rs17857917;rs17858479;rs59034332;rs2296377	13	Q9H497	TOR3A_HUMAN	L	13	ENSP00000356599:F13L;ENSP00000356597:F13L;ENSP00000335351:F13L	ENSP00000335351:F13L	F	+	1	0	TOR3A	177317923	0.000000	0.05858	0.002000	0.10522	0.004000	0.04260	-1.490000	0.02304	-1.608000	0.01587	-1.610000	0.00802	TTC	T|0.229;C|0.771		0.751	TOR3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084927.1	NM_022371	
ADARB2	105	hgsc.bcm.edu	37	10	1405402	1405402	+	Missense_Mutation	SNP	C	C	T	rs191180422	byFrequency	TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr10:1405402C>T	ENST00000381312.1	-	3	1223	c.898G>A	c.(898-900)Gag>Aag	p.E300K	RP11-398B16.2_ENST00000432987.1_RNA	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	300	DRBM 2. {ECO:0000255|PROSITE- ProRule:PRU00266}.				mRNA processing (GO:0006397)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		GCGCGCCGCTCGGCCGGTTCT	0.761													C|||	8	0.00159744	0.0	0.0043	5008	,	,		6987	0.0		0.001	False		,,,				2504	0.0041				p.E300K		.											.	ADARB2-153	0			c.G898A						.	C	LYS/GLU	2,3830		0,2,1914	4.0	4.0	4.0		898	3.3	0.0	10		4	29,7701		0,29,3836	no	missense	ADARB2	NM_018702.3	56	0,31,5750	TT,TC,CC		0.3752,0.0522,0.2681	benign	300/740	1405402	31,11531	1916	3865	5781	SO:0001583	missense	105	exon3			GCCGCTCGGCCGG	AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	3.5.-.-		227	protein-coding gene	gene with protein product	"""RED2 homolog (rat)"""	602065	"""adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)"", ""adenosine deaminase, RNA-specific, B2"""			9272162, 10836796	Standard	NM_018702		Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.898G>A	10.37:g.1405402C>T	ENSP00000370713:p.Glu300Lys	1	0		6	4	NM_018702	0	0	0	0	0	B2RPJ5|Q5VUT6|Q5VW42	Missense_Mutation	SNP	ENST00000381312.1	37	CCDS7058.1	.	.	.	.	.	.	.	.	.	.	C	12.61	1.990794	0.35131	5.22E-4	0.003752	ENSG00000185736	ENST00000381312	T	0.75821	-0.97	5.24	3.34	0.38264	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.204711	0.50627	N	0.000111	T	0.72700	0.3493	L	0.43646	1.37	0.80722	D	1	P	0.38711	0.643	P	0.45119	0.47	T	0.69450	-0.5142	10	0.36615	T	0.2	-25.1429	15.4893	0.75593	0.0:0.7376:0.2624:0.0	.	300	Q9NS39	RED2_HUMAN	K	300	ENSP00000370713:E300K	ENSP00000370713:E300K	E	-	1	0	ADARB2	1395402	1.000000	0.71417	0.005000	0.12908	0.002000	0.02628	2.572000	0.45999	0.561000	0.29186	-0.304000	0.09214	GAG	.		0.761	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046426.1	NM_018702	
GPRIN2	9721	hgsc.bcm.edu	37	10	47000217	47000217	+	Missense_Mutation	SNP	G	G	A	rs72780221	byFrequency	TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr10:47000217G>A	ENST00000374317.1	+	3	1610	c.1337G>A	c.(1336-1338)cGc>cAc	p.R446H	GPRIN2_ENST00000374314.4_Missense_Mutation_p.R446H	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	446								p.R446H(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						TCCCTGCGGCGCCCCAGCTGC	0.716																																					p.R446H		.											.	GPRIN2-90	1	Substitution - Missense(1)	prostate(1)	c.G1337A						.						8.0	9.0	9.0					10																	47000217		2121	4098	6219	SO:0001583	missense	9721	exon3			TGCGGCGCCCCAG	BC011672	CCDS73101.1	10q11.22	2006-08-24	2006-08-24	2006-08-24	ENSG00000204175	ENSG00000204175			23730	protein-coding gene	gene with protein product		611240	"""KIAA0514"""	KIAA0514		9628581	Standard	NM_014696		Approved	MGC15171	uc001jec.3	O60269	OTTHUMG00000018107	ENST00000374317.1:c.1337G>A	10.37:g.47000217G>A	ENSP00000363436:p.Arg446His	1	0		32	15	NM_014696	0	0	0	0	0	Q5SVF0	Missense_Mutation	SNP	ENST00000374317.1	37	CCDS31192.1	220	0.10073260073260074	86	0.17479674796747968	30	0.08287292817679558	25	0.043706293706293704	79	0.10422163588390501	G	13.52	2.261176	0.39995	.	.	ENSG00000204175	ENST00000374317;ENST00000374314	T;T	0.26223	1.75;1.75	5.11	3.2	0.36748	.	0.744361	0.10758	N	0.637492	T	0.00073	0.0002	L	0.49350	1.555	0.09310	N	1	B	0.24533	0.105	B	0.17433	0.018	T	0.22243	-1.0222	10	0.34782	T	0.22	-0.7153	5.5226	0.16941	0.1777:0.1655:0.6568:0.0	.	446	O60269	GRIN2_HUMAN	H	446	ENSP00000363436:R446H;ENSP00000363433:R446H	ENSP00000363433:R446H	R	+	2	0	GPRIN2	46420223	0.000000	0.05858	0.420000	0.26596	0.986000	0.74619	0.143000	0.16115	0.639000	0.30564	0.561000	0.74099	CGC	G|0.901;A|0.099		0.716	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047836.1	NM_014696	
NFKB2	4791	hgsc.bcm.edu	37	10	104159196	104159196	+	Silent	SNP	A	A	G	rs4919633	byFrequency	TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr10:104159196A>G	ENST00000369966.3	+	13	1519	c.1269A>G	c.(1267-1269)ccA>ccG	p.P423P	NFKB2_ENST00000336486.5_3'UTR|NFKB2_ENST00000189444.6_Silent_p.P423P|NFKB2_ENST00000428099.1_Silent_p.P423P	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	423					extracellular matrix organization (GO:0030198)|follicular dendritic cell differentiation (GO:0002268)|germinal center formation (GO:0002467)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|spleen development (GO:0048536)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Bcl3/NF-kappaB2 complex (GO:0033257)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)	Acetylsalicylic acid(DB00945)|Glucosamine(DB01296)	CCGCGGAGCCAAGCGCCCCCT	0.786			T	IGH@	B-NHL								G|||	4942	0.986821	0.9539	0.9942	5008	,	,		10589	1.0		0.999	False		,,,				2504	1.0				p.P423P		.		Dom	yes		10	10q24	4791	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)		L	.	NFKB2-522	0			c.A1269G						.	G	,,	2876,76		1401,74,1	3.0	5.0	4.0		1269,1269,1269	-4.9	0.0	10	dbSNP_111	4	6622,2		3310,2,0	no	coding-synonymous,coding-synonymous,coding-synonymous	NFKB2	NM_001077493.1,NM_001077494.1,NM_002502.3	,,	4711,76,1	GG,GA,AA		0.0302,2.5745,0.8145	,,	423/900,423/901,423/900	104159196	9498,78	1476	3312	4788	SO:0001819	synonymous_variant	4791	exon13			GGAGCCAAGCGCC	X61498	CCDS41564.1, CCDS41565.1	10q24	2013-01-10			ENSG00000077150	ENSG00000077150		"""Ankyrin repeat domain containing"""	7795	protein-coding gene	gene with protein product		164012				1876189	Standard	XM_005269860		Approved	LYT-10, p52, p105, NF-kB2	uc001kvb.4	Q00653	OTTHUMG00000018962	ENST00000369966.3:c.1269A>G	10.37:g.104159196A>G		0	0		4	4	NM_001077494	0	0	0	11	11	A8K9D9|D3DR83|Q04860|Q9BU75|Q9H471|Q9H472	Silent	SNP	ENST00000369966.3	37	CCDS41564.1																																																																																			A|0.009;G|0.991		0.786	NFKB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050080.2		
SLC18A2	6571	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	119003690	119003690	+	Silent	SNP	G	G	A			TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr10:119003690G>A	ENST00000298472.5	+	3	473	c.330G>A	c.(328-330)gcG>gcA	p.A110A	SLC18A2_ENST00000497497.1_3'UTR|RP11-501J20.5_ENST00000425264.1_RNA	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	110					aging (GO:0007568)|cellular response to ammonium ion (GO:0071242)|cellular response to drug (GO:0035690)|death (GO:0016265)|dopamine transport (GO:0015872)|endocytic recycling (GO:0032456)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|negative regulation of neurotransmitter transport (GO:0051589)|neurotransmitter loading into synaptic vesicle (GO:0098700)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to corticosterone (GO:0051412)|response to herbicide (GO:0009635)|response to starvation (GO:0042594)|response to zinc ion (GO:0010043)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)|terminal bouton (GO:0043195)	amine transmembrane transporter activity (GO:0005275)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)|serotonin transmembrane transporter activity (GO:0015222)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Amphetamine(DB00182)|Benzphetamine(DB00865)|Deserpidine(DB01089)|Dextroamphetamine(DB01576)|Ephedra(DB01363)|Ephedrine(DB01364)|Isometheptene(DB06706)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Propylhexedrine(DB06714)|Reserpine(DB00206)|Tetrabenazine(DB04844)	TGACCAACGCGTCCGCTGTTC	0.517																																					p.A110A		.											.	SLC18A2-90	0			c.G330A						.						115.0	98.0	104.0					10																	119003690		2203	4300	6503	SO:0001819	synonymous_variant	6571	exon3			CAACGCGTCCGCT	L14269	CCDS7599.1	10q25	2013-07-18	2013-07-18		ENSG00000165646	ENSG00000165646		"""Solute carriers"""	10935	protein-coding gene	gene with protein product		193001		VMAT2			Standard	NM_003054		Approved	SVMT, SVAT	uc001ldd.2	Q05940	OTTHUMG00000019121	ENST00000298472.5:c.330G>A	10.37:g.119003690G>A		113	0		121	42	NM_003054	0	0	0	0	0	B2RC96|D3DRC4|Q15876|Q4G147|Q5VW49|Q9H3P6	Silent	SNP	ENST00000298472.5	37	CCDS7599.1																																																																																			.		0.517	SLC18A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050563.1	NM_003054	
IFITM3	10410	ucsc.edu	37	11	320649	320649	+	Silent	SNP	G	G	A	rs11553885	byFrequency	TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr11:320649G>A	ENST00000399808.4	-	1	401	c.165C>T	c.(163-165)ccC>ccT	p.P55P	RP11-326C3.11_ENST00000508004.2_RNA|IFITM3_ENST00000526811.1_Silent_p.P34P|RP11-326C3.11_ENST00000602429.1_RNA|RP11-326C3.10_ENST00000534271.1_RNA|RP11-326C3.14_ENST00000602809.1_lincRNA|RP11-326C3.11_ENST00000602756.1_RNA|IFITM3_ENST00000602735.1_Silent_p.P34P	NM_021034.2	NP_066362.2	Q01628	IFM3_HUMAN	interferon induced transmembrane protein 3	55					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|immune response (GO:0006955)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral transcription (GO:0032897)|response to interferon-alpha (GO:0035455)|response to interferon-beta (GO:0035456)|response to interferon-gamma (GO:0034341)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)		p.P55P(5)		central_nervous_system(7)|endometrium(7)|kidney(2)|large_intestine(1)|lung(1)	18		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		CGACATGGTCGGGCACGGAGG	0.637																																					p.P55P		.											.	IFITM3-519	5	Substitution - coding silent(5)	endometrium(4)|central_nervous_system(1)	c.C165T						.						93.0	98.0	96.0					11																	320649		2062	4173	6235	SO:0001819	synonymous_variant	10410	exon1			ATGGTCGGGCACG	X57352	CCDS41585.1	11p15.5	2011-05-24	2011-05-24		ENSG00000142089	ENSG00000142089			5414	protein-coding gene	gene with protein product		605579	"""interferon induced transmembrane protein 3 (1-8U)"""			1906403, 16326387	Standard	NM_021034		Approved	1-8U	uc001lpa.2	Q01628		ENST00000399808.4:c.165C>T	11.37:g.320649G>A		124	9		128	25	NM_021034	0	0	654	679	25	Q53Y76|Q96HK8|Q96J15	Silent	SNP	ENST00000399808.4	37	CCDS41585.1																																																																																			G|0.946;A|0.054		0.637	IFITM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384765.1	NM_021034	
MUC2	4583	bcgsc.ca	37	11	1093066	1093066	+	Missense_Mutation	SNP	C	C	A	rs56365200	byFrequency	TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr11:1093066C>A	ENST00000441003.2	+	30	4912	c.4885C>A	c.(4885-4887)Cca>Aca	p.P1629T	MUC2_ENST00000361558.6_Intron|MUC2_ENST00000359061.5_Missense_Mutation_p.P1596T|MUC2_ENST00000333592.6_5'Flank	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0	Approximate repeats.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	gaccccaaccccaacagccat	0.632																																					p.P1629T		.											.	MUC2-90	0			c.C4885A						.						123.0	163.0	149.0					11																	1093066		1876	3602	5478	SO:0001583	missense	4583	exon30			CCAACCCCAACAG	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.4885C>A	11.37:g.1093066C>A	ENSP00000415183:p.Pro1629Thr	43	0		56	13	NM_002457	0	0	0	0	0	Q14878	Missense_Mutation	SNP	ENST00000441003.2	37		.	.	.	.	.	.	.	.	.	.	T	0.903	-0.721580	0.03182	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.12879	2.64;3.49	1.75	-3.49	0.04724	.	16.324000	0.00424	N	0.000074	T	0.04407	0.0121	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.25502	-1.0130	9	0.05620	T	0.96	.	2.5689	0.04790	0.221:0.4621:0.0:0.317	rs56365200	1629	E7EUV1	.	T	1629;1596	ENSP00000415183:P1629T;ENSP00000351956:P1596T	ENSP00000351956:P1596T	P	+	1	0	MUC2	1083066	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.774000	0.00187	-0.960000	0.03613	-3.899000	0.00016	CCA	.		0.632	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457	
MUC5B	727897	bcgsc.ca	37	11	1266696	1266696	+	Silent	SNP	A	A	C	rs532138150	byFrequency	TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr11:1266696A>C	ENST00000529681.1	+	31	8644	c.8586A>C	c.(8584-8586)ccA>ccC	p.P2862P	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Silent_p.P2865P	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2862	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)		CATCGGCCCCAATAACCACGG	0.692													-|||	1610	0.321486	0.236	0.3386	5008	,	,		9611	0.497		0.2575	False		,,,				2504	0.3098				p.P2862P		.											.	.	0			c.A8586C						.						54.0	65.0	61.0					11																	1266696		1727	3813	5540	SO:0001819	synonymous_variant	727897	exon31			GGCCCCAATAACC	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.8586A>C	11.37:g.1266696A>C		142	1		74	52	NM_002458	0	0	0	0	0	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	CCDS44515.2																																																																																			A|0.500;C|0.500		0.692	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093	
MUC5B	727897	bcgsc.ca	37	11	1266716	1266716	+	Missense_Mutation	SNP	T	T	C	rs200243273	byFrequency	TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr11:1266716T>C	ENST00000529681.1	+	31	8664	c.8606T>C	c.(8605-8607)aTg>aCg	p.M2869T	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.M2872T	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2869	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)		GTGGTGACCATGGGCTGTGAG	0.657													-|||	1477	0.294928	0.2284	0.2752	5008	,	,		10473	0.4812		0.2266	False		,,,				2504	0.2771				p.M2869T		.											.	.	0			c.T8606C						.						43.0	51.0	49.0					11																	1266716		1683	3765	5448	SO:0001583	missense	727897	exon31			TGACCATGGGCTG	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.8606T>C	11.37:g.1266716T>C	ENSP00000436812:p.Met2869Thr	155	2		71	32	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	.	.	.	.	.	.	.	.	.	.	-	1.479	-0.557829	0.03967	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.15718	2.4;2.59	1.67	-1.74	0.08056	.	.	.	.	.	T	0.05686	0.0149	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	0.29882	-0.9997	8	0.87932	D	0	.	3.4419	0.07466	0.1749:0.468:0.0:0.3571	rs2860626;rs2943499;rs2943524;rs3965637	3452;2872	A7Y9J9;E9PBJ0	.;.	T	2869;2872;2841;2829	ENSP00000436812:M2869T;ENSP00000415793:M2872T	ENSP00000343037:M2841T	M	+	2	0	MUC5B	1223292	0.003000	0.15002	0.000000	0.03702	0.007000	0.05969	0.117000	0.15583	-1.035000	0.03291	-0.471000	0.05019	ATG	C|1.000;|0.000		0.657	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093	
OR5L1	219437	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	55579239	55579239	+	Silent	SNP	G	G	A			TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr11:55579239G>A	ENST00000333973.2	+	1	386	c.297G>A	c.(295-297)gtG>gtA	p.V99V		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	99						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(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				GGTGCATGGTGCAATTCTACT	0.453																																					p.V99V		.											.	OR5L1-73	0			c.G297A						.						235.0	210.0	219.0					11																	55579239		2200	4296	6496	SO:0001819	synonymous_variant	219437	exon1			CATGGTGCAATTC	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"""GPCR / Class A : Olfactory receptors"""	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.297G>A	11.37:g.55579239G>A		135	1		168	96	NM_001004738	0	0	0	0	0	B2RNK6|Q6IFD0	Silent	SNP	ENST00000333973.2	37	CCDS31509.1																																																																																			.		0.453	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	NM_001004738	
ARAP1	116985	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	72412758	72412758	+	Silent	SNP	G	G	A			TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr11:72412758G>A	ENST00000393609.3	-	16	2440	c.2238C>T	c.(2236-2238)caC>caT	p.H746H	ARAP1_ENST00000429686.1_Silent_p.H440H|ARAP1_ENST00000426523.1_Silent_p.H501H|ARAP1_ENST00000455638.2_Silent_p.H746H|ARAP1_ENST00000495878.1_5'Flank|ARAP1-AS2_ENST00000500163.2_RNA|ARAP1_ENST00000393605.3_Silent_p.H506H|ARAP1_ENST00000359373.5_Silent_p.H746H|ARAP1_ENST00000334211.8_Silent_p.H501H	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	746	PH 3. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin filament reorganization involved in cell cycle (GO:0030037)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of receptor recycling (GO:0001921)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of cellular component movement (GO:0051270)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						GGAAGCCACTGTGGCTCACGG	0.622																																					p.H746H	Ovarian(102;1198 1520 13195 17913 37529)	.											.	ARAP1-91	0			c.C2238T						.						183.0	186.0	185.0					11																	72412758		2200	4293	6493	SO:0001819	synonymous_variant	116985	exon16			GCCACTGTGGCTC	AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16925	protein-coding gene	gene with protein product		606646	"""centaurin, delta 2"""	CENTD2			Standard	NM_001040118		Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000393609.3:c.2238C>T	11.37:g.72412758G>A		76	0		73	28	NM_001040118	0	0	12	23	11	A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Silent	SNP	ENST00000393609.3	37	CCDS41687.1																																																																																			.		0.622	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347428.1	NM_001040118	
PANX3	116337	broad.mit.edu	37	11	124489781	124489781	+	Missense_Mutation	SNP	C	C	A	rs199566360	byFrequency	TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr11:124489781C>A	ENST00000284288.2	+	4	1196	c.1129C>A	c.(1129-1131)Ccc>Acc	p.P377T	TBRG1_ENST00000441174.3_5'Flank	NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN	pannexin 3	377					cell-cell signaling (GO:0007267)|ion transport (GO:0006811)|protein hexamerization (GO:0034214)|transmembrane transport (GO:0055085)	gap junction (GO:0005921)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction hemi-channel activity (GO:0055077)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		TGGCTTAGAACCCTCAAAACC	0.438																																					p.P377T		.											.	PANX3-68	0			c.C1129A						.						96.0	89.0	91.0					11																	124489781		2201	4299	6500	SO:0001583	missense	116337	exon4			TTAGAACCCTCAA	AF406650	CCDS8447.1	11q24.2	2011-12-02			ENSG00000154143	ENSG00000154143		"""Ion channels / Pannexins"""	20573	protein-coding gene	gene with protein product		608422					Standard	NM_052959		Approved	Px3	uc001qah.3	Q96QZ0	OTTHUMG00000165925	ENST00000284288.2:c.1129C>A	11.37:g.124489781C>A	ENSP00000284288:p.Pro377Thr	149	3		119	9	NM_052959	0	0	0	0	0		Missense_Mutation	SNP	ENST00000284288.2	37	CCDS8447.1	.	.	.	.	.	.	.	.	.	.	C	11.87	1.767469	0.31320	.	.	ENSG00000154143	ENST00000284288	T	0.16597	2.33	5.4	4.47	0.54385	.	0.353012	0.27941	N	0.017239	T	0.08980	0.0222	N	0.22421	0.69	0.29943	N	0.820918	B	0.14438	0.01	B	0.06405	0.002	T	0.30707	-0.9969	10	0.02654	T	1	-22.4649	8.7203	0.34436	0.2253:0.5086:0.266:0.0	.	377	Q96QZ0	PANX3_HUMAN	T	377	ENSP00000284288:P377T	ENSP00000284288:P377T	P	+	1	0	PANX3	123994991	0.999000	0.42202	1.000000	0.80357	0.980000	0.70556	0.489000	0.22387	1.236000	0.43740	0.561000	0.74099	CCC	C|0.999;T|0.001		0.438	PANX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387064.1		
RPUSD4	84881	bcgsc.ca	37	11	126081403	126081403	+	Missense_Mutation	SNP	T	T	C	rs2282580	byFrequency	TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr11:126081403T>C	ENST00000298317.4	-	1	184	c.131A>G	c.(130-132)cAg>cGg	p.Q44R	RPUSD4_ENST00000533628.1_Missense_Mutation_p.Q44R|RPUSD4_ENST00000534393.1_5'Flank|FAM118B_ENST00000529731.1_5'Flank|RNU4-86P_ENST00000410135.1_RNA|FAM118B_ENST00000533050.1_5'UTR|FAM118B_ENST00000360194.4_5'Flank|RP11-50B3.4_ENST00000532866.1_RNA	NM_032795.2	NP_116184.2	Q96CM3	RUSD4_HUMAN	RNA pseudouridylate synthase domain containing 4	44			Q -> R (in dbSNP:rs2282580). {ECO:0000269|PubMed:14702039}.		pseudouridine synthesis (GO:0001522)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761)		CGCTAATCTCTGGGCATTTAT	0.582													T|||	2400	0.479233	0.2534	0.5576	5008	,	,		16167	0.8175		0.338	False		,,,				2504	0.5256				p.Q44R		.											.	RPUSD4-153	0			c.A131G						.	T	ARG/GLN,ARG/GLN	1178,3224	413.0+/-336.3	162,854,1185	138.0	147.0	144.0		131,131	5.3	0.4	11	dbSNP_100	144	2674,5924	430.0+/-356.4	429,1816,2054	yes	missense,missense	RPUSD4	NM_001144827.1,NM_032795.2	43,43	591,2670,3239	CC,CT,TT		31.1003,26.7606,29.6308	probably-damaging,probably-damaging	44/347,44/378	126081403	3852,9148	2201	4299	6500	SO:0001583	missense	84881	exon1			AATCTCTGGGCAT	BC014131	CCDS8469.1, CCDS53721.1	11q24.2	2013-02-11			ENSG00000165526	ENSG00000165526		"""RNA pseudouridylate synthase domain containing"""	25898	protein-coding gene	gene with protein product							Standard	NM_032795		Approved	FLJ14494	uc001qde.3	Q96CM3	OTTHUMG00000165815	ENST00000298317.4:c.131A>G	11.37:g.126081403T>C	ENSP00000298317:p.Gln44Arg	102	0		80	6	NM_001144827	0	0	3	3	0	E9PML2|Q96K56	Missense_Mutation	SNP	ENST00000298317.4	37	CCDS8469.1	1044	0.47802197802197804	135	0.27439024390243905	184	0.5082872928176796	472	0.8251748251748252	253	0.3337730870712401	T	12.23	1.874132	0.33069	0.267606	0.311003	ENSG00000165526	ENST00000298317;ENST00000533628;ENST00000532674	T;T;T	0.41400	2.89;2.71;1.0	5.31	5.31	0.75309	.	0.524166	0.20250	N	0.096111	T	0.00012	0.0000	M	0.75447	2.3	0.09310	P	0.9999999999999989	P;P	0.45126	0.851;0.851	B;B	0.40165	0.321;0.253	T	0.27839	-1.0062	9	0.07325	T	0.83	-33.2137	11.581	0.50891	0.0:0.0:0.0:1.0	rs2282580;rs17803480;rs57431655;rs2282580	44;44	E9PML2;Q96CM3	.;RUSD4_HUMAN	R	44	ENSP00000298317:Q44R;ENSP00000433065:Q44R;ENSP00000433709:Q44R	ENSP00000298317:Q44R	Q	-	2	0	RPUSD4	125586613	0.992000	0.36948	0.370000	0.25965	0.024000	0.10985	2.462000	0.45049	2.224000	0.72417	0.528000	0.53228	CAG	T|0.608;C|0.392		0.582	RPUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386336.1	NM_032795	
KCNA1	3736	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	5020979	5020979	+	Silent	SNP	C	C	A			TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr12:5020979C>A	ENST00000382545.3	+	2	1542	c.435C>A	c.(433-435)ccC>ccA	p.P145P	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	145					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|juxtaparanode region of axon (GO:0044224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Amitriptyline(DB00321)|Dalfampridine(DB06637)|Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Nifedipine(DB01115)|Sevoflurane(DB01236)	GCCCTCTGCCCGAGAAGGAGT	0.617																																					p.P145P		.											.	KCNA1-228	0			c.C435A						.						67.0	71.0	70.0					12																	5020979		2203	4300	6503	SO:0001819	synonymous_variant	3736	exon2			TCTGCCCGAGAAG	L02750	CCDS8535.1	12p13	2012-07-05			ENSG00000111262	ENSG00000111262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6218	protein-coding gene	gene with protein product		176260		AEMK		1349297, 8821794, 16382104	Standard	NM_000217		Approved	Kv1.1, RBK1, HUK1, MBK1	uc001qnh.3	Q09470	OTTHUMG00000044398	ENST00000382545.3:c.435C>A	12.37:g.5020979C>A		94	1		117	45	NM_000217	0	0	0	0	0	A6NM83|Q3MIQ9	Silent	SNP	ENST00000382545.3	37	CCDS8535.1																																																																																			.		0.617	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103343.2	NM_000217	
ATN1	1822	ucsc.edu	37	12	7045912	7045912	+	Silent	SNP	G	G	A	rs144280633	byFrequency	TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr12:7045912G>A	ENST00000356654.4	+	5	1719	c.1482G>A	c.(1480-1482)caG>caA	p.Q494Q	ATN1_ENST00000396684.2_Silent_p.Q494Q	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	494	Poly-Gln.				cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						agcagcagcagcagcagcagc	0.642																																					p.Q494Q		.											.	ATN1-139	0			c.G1482A						.						39.0	49.0	46.0					12																	7045912		2183	4256	6439	SO:0001819	synonymous_variant	1822	exon5			GCAGCAGCAGCAG	U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"""dentatorubral-pallidoluysian atrophy (atrophin-1)"""	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.1482G>A	12.37:g.7045912G>A		58	0		111	25	NM_001007026	2	2	3037	3117	76	Q99495|Q99621|Q9UEK7	Silent	SNP	ENST00000356654.4	37	CCDS31734.1																																																																																			G|0.972;A|0.028		0.642	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940	
TUBA1C	84790	ucsc.edu	37	12	49666152	49666152	+	Silent	SNP	G	G	A	rs199599214	byFrequency	TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr12:49666152G>A	ENST00000301072.6	+	4	767	c.492G>A	c.(490-492)aaG>aaA	p.K164K	TUBA1C_ENST00000541364.1_Silent_p.K234K|RP11-161H23.5_ENST00000550468.2_RNA	NM_032704.3	NP_116093.1	Q9BQE3	TBA1C_HUMAN	tubulin, alpha 1c	164					'de novo' posttranslational protein folding (GO:0051084)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasmic microtubule (GO:0005881)|microtubule (GO:0005874)|nucleus (GO:0005634)|vesicle (GO:0031982)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.K164K(1)		endometrium(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)	13						ATGGCAAGAAGTCCAAGCTGG	0.547																																					p.K164K		.											.	TUBA1C-90	1	Substitution - coding silent(1)	large_intestine(1)	c.G492A						.						56.0	58.0	57.0					12																	49666152		2203	4300	6503	SO:0001819	synonymous_variant	84790	exon4			CAAGAAGTCCAAG	BC004949	CCDS8782.1	12q13.12	2007-03-16	2007-02-12	2007-02-12		ENSG00000167553		"""Tubulins"""	20768	protein-coding gene	gene with protein product			"""tubulin, alpha 6"""	TUBA6		7821789	Standard	NM_032704		Approved	MGC14580, MGC10851, bcm948	uc001rtt.1	Q9BQE3		ENST00000301072.6:c.492G>A	12.37:g.49666152G>A		194	13		255	16	NM_032704	0	1	1011	1493	481		Silent	SNP	ENST00000301072.6	37	CCDS8782.1																																																																																			G|0.998;A|0.002		0.547	TUBA1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404424.1	NM_032704	
GNS	2799	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	65146525	65146525	+	Missense_Mutation	SNP	T	T	C			TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr12:65146525T>C	ENST00000258145.3	-	2	375	c.205A>G	c.(205-207)Aaa>Gaa	p.K69E	GNS_ENST00000542058.1_Intron|GNS_ENST00000418919.2_Missense_Mutation_p.K13E|GNS_ENST00000543646.1_Missense_Mutation_p.K101E	NM_002076.3	NP_002067.1	P15586	GNS_HUMAN	glucosamine (N-acetyl)-6-sulfatase	69					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	metal ion binding (GO:0046872)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)|sulfuric ester hydrolase activity (GO:0008484)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(4)	15	Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12)		LUAD - Lung adenocarcinoma(6;0.115)	GBM - Glioblastoma multiforme(28;0.0435)		GCTTTGGTTTTCTTTAGCGGT	0.328																																					p.K69E		.											.	GNS-514	0			c.A205G						.						59.0	61.0	60.0					12																	65146525		2203	4300	6503	SO:0001583	missense	2799	exon2			TGGTTTTCTTTAG		CCDS8970.1	12q14	2010-05-04	2008-08-01		ENSG00000135677	ENSG00000135677	3.1.6.14		4422	protein-coding gene	gene with protein product	"""Sanfilippo disease IIID"", ""N-acetylglucosamine-6-sulfatase"""	607664					Standard	NM_002076		Approved		uc001ssg.4	P15586	OTTHUMG00000168819	ENST00000258145.3:c.205A>G	12.37:g.65146525T>C	ENSP00000258145:p.Lys69Glu	37	0		49	9	NM_002076	0	0	0	0	0	B4DYH8|Q53F05	Missense_Mutation	SNP	ENST00000258145.3	37	CCDS8970.1	.	.	.	.	.	.	.	.	.	.	T	16.68	3.190161	0.58017	.	.	ENSG00000135677	ENST00000418919;ENST00000258145;ENST00000543646;ENST00000545471	D;D;D	0.98567	-5.0;-3.95;-3.95	5.24	5.24	0.73138	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.97346	0.9132	L	0.55990	1.75	0.80722	D	1	P;B;B	0.41475	0.751;0.187;0.1	B;P;B	0.46026	0.287;0.501;0.096	D	0.97148	0.9829	9	.	.	.	-21.9895	15.8484	0.78907	0.0:0.0:0.0:1.0	.	101;69;13	F6S8M0;P15586;Q7Z3X3	.;GNS_HUMAN;.	E	13;69;101;6	ENSP00000413130:K13E;ENSP00000258145:K69E;ENSP00000438497:K101E	.	K	-	1	0	GNS	63432792	1.000000	0.71417	1.000000	0.80357	0.484000	0.33280	6.908000	0.75730	2.284000	0.76573	0.528000	0.53228	AAA	.		0.328	GNS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401195.2		
DYRK2	8445	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	68051422	68051422	+	Silent	SNP	C	C	T			TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr12:68051422C>T	ENST00000344096.3	+	3	1148	c.735C>T	c.(733-735)caC>caT	p.H245H	RP11-335O4.3_ENST00000425371.2_RNA|DYRK2_ENST00000393555.3_Silent_p.H172H	NM_006482.2	NP_006473.2	Q92630	DYRK2_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2	245	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		H -> N (in dbSNP:rs34166200). {ECO:0000269|PubMed:17344846}.		cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of NFAT protein import into nucleus (GO:0051534)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of glycogen biosynthetic process (GO:0045725)|protein phosphorylation (GO:0006468)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|ubiquitin binding (GO:0043130)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30			Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)		ACAAAGTCCACCAGCACGTGG	0.582																																					p.H245H		.											.	DYRK2-861	0			c.C735T						.						74.0	58.0	63.0					12																	68051422		2203	4300	6503	SO:0001819	synonymous_variant	8445	exon3			AGTCCACCAGCAC	Y09216	CCDS8978.1, CCDS8979.1	12q15	2008-07-03				ENSG00000127334			3093	protein-coding gene	gene with protein product		603496				9748265	Standard	NM_003583		Approved		uc001str.4	Q92630		ENST00000344096.3:c.735C>T	12.37:g.68051422C>T		55	0		81	19	NM_006482	0	0	10	14	4	B2R9V9|Q9BRB5	Silent	SNP	ENST00000344096.3	37	CCDS8978.1																																																																																			.		0.582	DYRK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402218.1		
SSH1	54434	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	109182933	109182933	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr12:109182933G>A	ENST00000326495.5	-	15	2074	c.1981C>T	c.(1981-1983)Cct>Tct	p.P661S	SSH1_ENST00000360239.3_Missense_Mutation_p.P349S	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	661					actin cytoskeleton organization (GO:0030036)|cell morphogenesis (GO:0000902)|cellular response to ATP (GO:0071318)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of cellular protein metabolic process (GO:0032268)|regulation of lamellipodium assembly (GO:0010591)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GAGGCCTCAGGAGCCCCGCTG	0.577																																					p.P661S		.											.	SSH1-94	0			c.C1981T						.						31.0	31.0	31.0					12																	109182933		2203	4300	6503	SO:0001583	missense	54434	exon15			CCTCAGGAGCCCC	BC062341	CCDS9121.1, CCDS53825.1, CCDS55882.1	12q24.12	2013-03-05	2013-03-05			ENSG00000084112		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30579	protein-coding gene	gene with protein product		606778	"""slingshot homolog 1 (Drosophila)"""			10718198, 11832213	Standard	NM_018984		Approved	KIAA1298	uc001tnm.3	Q8WYL5	OTTHUMG00000169371	ENST00000326495.5:c.1981C>T	12.37:g.109182933G>A	ENSP00000315713:p.Pro661Ser	79	0		97	49	NM_018984	0	0	6	10	4	Q6P6C0|Q8N9A7|Q8WYL3|Q8WYL4|Q9P2P8	Missense_Mutation	SNP	ENST00000326495.5	37	CCDS9121.1	.	.	.	.	.	.	.	.	.	.	G	4.604	0.112259	0.08831	.	.	ENSG00000084112	ENST00000360239;ENST00000326495	T;T	0.80909	-1.43;-1.43	5.2	2.32	0.28847	.	2.251250	0.01294	N	0.010102	T	0.77287	0.4108	L	0.43152	1.355	0.09310	N	1	B;P	0.41978	0.022;0.767	B;B	0.41510	0.015;0.359	T	0.63862	-0.6541	10	0.62326	D	0.03	-6.255	6.4192	0.21734	0.1634:0.1509:0.6857:0.0	.	661;349	Q8WYL5;Q8WYL5-4	SSH1_HUMAN;.	S	349;661	ENSP00000353374:P349S;ENSP00000315713:P661S	ENSP00000315713:P661S	P	-	1	0	SSH1	107707062	0.236000	0.23804	0.006000	0.13384	0.007000	0.05969	0.888000	0.28268	0.679000	0.31345	-0.300000	0.09419	CCT	.		0.577	SSH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403724.1	NM_018984	
ACACB	32	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	12	109616998	109616999	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	TC	TC	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr12:109616998_109616999delTC	ENST00000338432.7	+	10	1662_1663	c.1543_1544delTC	c.(1543-1545)tctfs	p.S515fs	ACACB_ENST00000377848.3_Frame_Shift_Del_p.S515fs|ACACB_ENST00000543080.1_3'UTR|ACACB_ENST00000377854.5_Frame_Shift_Del_p.S515fs			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	515	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.|Biotin carboxylation.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	GAATGCTGTGTCTCTGTTTGGT	0.589																																					p.515_515del		.											.	ACACB-98	0			c.1543_1544del						.																																			SO:0001589	frameshift_variant	32	exon9			GCTGTGTCTCTGT	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.1543_1544delTC	12.37:g.109617000_109617001delTC	ENSP00000341044:p.Ser515fs	86	0		116	26	NM_001093	0	0	0	0	0	A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Frame_Shift_Del	DEL	ENST00000338432.7	37	CCDS31898.1																																																																																			.		0.589	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093	
IL31	386653	broad.mit.edu;bcgsc.ca	37	12	122657198	122657198	+	Missense_Mutation	SNP	G	G	A	rs146057190	byFrequency	TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr12:122657198G>A	ENST00000377035.1	-	3	282	c.256C>T	c.(256-258)Cca>Tca	p.P86S		NM_001014336.1	NP_001014358.1	Q6EBC2	IL31_HUMAN	interleukin 31	86					immune system process (GO:0002376)	extracellular space (GO:0005615)				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;6.93e-05)|Breast(359;0.0544)		OV - Ovarian serous cystadenocarcinoma(86;3.27e-29)|Epithelial(86;4.86e-27)|BRCA - Breast invasive adenocarcinoma(302;0.223)		CGGATGGCTGGGCTGTGGATG	0.512																																					p.P86S		.											.	IL31-514	0			c.C256T						.						178.0	137.0	151.0					12																	122657198		2203	4300	6503	SO:0001583	missense	386653	exon3			TGGCTGGGCTGTG	AY499343	CCDS31919.1	12q24.31	2011-07-21			ENSG00000204671	ENSG00000204671		"""Interleukins and interleukin receptors"""	19372	protein-coding gene	gene with protein product		609509				15184896	Standard	NM_001014336		Approved	IL-31	uc001ubv.3	Q6EBC2	OTTHUMG00000168916	ENST00000377035.1:c.256C>T	12.37:g.122657198G>A	ENSP00000366234:p.Pro86Ser	147	0		264	11	NM_001014336	0	0	0	0	0	A2RUQ1	Missense_Mutation	SNP	ENST00000377035.1	37	CCDS31919.1	.	.	.	.	.	.	.	.	.	.	G	0.035	-1.310035	0.01342	.	.	ENSG00000204671	ENST00000377035	.	.	.	4.18	0.158	0.14942	.	1.620550	0.03983	N	0.293655	T	0.09468	0.0233	N	0.01168	-0.975	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29518	-1.0009	9	0.05721	T	0.95	-1.8095	5.026	0.14385	0.4764:0.4169:0.1066:0.0	.	86	Q6EBC2	IL31_HUMAN	S	86	.	ENSP00000366234:P86S	P	-	1	0	IL31	121223151	0.012000	0.17670	0.000000	0.03702	0.003000	0.03518	0.306000	0.19279	0.058000	0.16222	-0.440000	0.05779	CCA	G|0.999;T|0.001		0.512	IL31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401594.1	NM_001014336	
POMP	51371	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	13	29242664	29242664	+	Missense_Mutation	SNP	C	C	G			TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr13:29242664C>G	ENST00000380842.4	+	4	298	c.217C>G	c.(217-219)Cta>Gta	p.L73V	POMP_ENST00000460403.1_3'UTR	NM_015932.5	NP_057016.1	Q9Y244	POMP_HUMAN	proteasome maturation protein	73					proteasome assembly (GO:0043248)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)|proteasome complex (GO:0000502)				endometrium(2)|kidney(1)|large_intestine(1)	4		Lung SC(185;0.0367)		all cancers(112;0.141)|OV - Ovarian serous cystadenocarcinoma(117;0.216)		CATTCAGGGTCTATTTGCTCC	0.373																																					p.L73V		.											.	POMP-90	0			c.C217G						.						117.0	111.0	113.0					13																	29242664		2203	4300	6503	SO:0001583	missense	51371	exon4			CAGGGTCTATTTG	AF077200	CCDS9331.1	13q12.13	2013-11-11	2006-07-04	2006-07-04	ENSG00000132963	ENSG00000132963			20330	protein-coding gene	gene with protein product	"""proteassemblin"""	613386	"""chromosome 13 open reading frame 12"""	C13orf12		11042152	Standard	NM_015932		Approved	HSPC014, UMP1	uc001usf.3	Q9Y244	OTTHUMG00000016652	ENST00000380842.4:c.217C>G	13.37:g.29242664C>G	ENSP00000370222:p.Leu73Val	93	0		70	37	NM_015932	0	0	105	194	89	A5HKJ2|D6MXU3|Q9HB69	Missense_Mutation	SNP	ENST00000380842.4	37	CCDS9331.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.834178	0.91036	.	.	ENSG00000132963	ENST00000380842	.	.	.	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.75613	0.3873	M	0.79258	2.445	0.80722	D	1	P	0.52463	0.953	P	0.53649	0.731	T	0.73180	-0.4064	9	0.38643	T	0.18	-12.0143	19.6313	0.95704	0.0:1.0:0.0:0.0	.	73	Q9Y244	POMP_HUMAN	V	73	.	ENSP00000370222:L73V	L	+	1	2	POMP	28140664	1.000000	0.71417	0.995000	0.50966	0.934000	0.57294	4.185000	0.58330	2.937000	0.99478	0.650000	0.86243	CTA	.		0.373	POMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044327.1	NM_015932	
Unknown	0	bcgsc.ca	37	13	103410782	103410782	+	IGR	SNP	T	T	C	rs1375719	byFrequency	TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr13:103410782T>C								LINC00283 (13208 upstream) : TEX30 (7557 downstream)																							GATGAATTAATAACTGACCAA	0.294													T|||	1911	0.381589	0.1044	0.5043	5008	,	,		17536	0.4097		0.5089	False		,,,				2504	0.5092				p.I96V		.											.	.	0			c.A286G						.	T	VAL/ILE	262,1122		28,206,458	81.0	69.0	73.0		286	2.1	0.0	13	dbSNP_88	73	1591,1581		410,771,405	yes	missense	CCDC168	NM_001146197.1	29	438,977,863	CC,CT,TT		49.8424,18.9306,40.6716		96/7082	103410782	1853,2703	692	1586	2278	SO:0001628	intergenic_variant	643677	exon3			AATTAATAACTGA																													13.37:g.103410782T>C		55	0		48	4	NM_001146197	0	0	0	0	0		Missense_Mutation	SNP		37																																																																																				A|0.014;C|0.352	0	0.294								
ING1	3621	hgsc.bcm.edu	37	13	111368316	111368316	+	Silent	SNP	C	C	T	rs9555726	byFrequency	TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr13:111368316C>T	ENST00000375774.3	+	1	988	c.526C>T	c.(526-528)Ctg>Ttg	p.L176L	ING1_ENST00000338450.7_Intron|ING1_ENST00000375775.3_Intron|ING1_ENST00000464141.1_Intron|CARS2_ENST00000535398.1_5'Flank|ING1_ENST00000333219.7_Intron	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1	176					cell cycle (GO:0007049)|chromatin modification (GO:0016568)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell death (GO:0010941)	nucleus (GO:0005634)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			GGCCGCATCTCTGCTGACCCG	0.706													C|||	2912	0.58147	0.23	0.6816	5008	,	,		11066	0.7252		0.6909	False		,,,				2504	0.7249				p.L176L		.											.	ING1-515	0			c.C526T						.	C	,,,	1347,2085		295,757,664	14.0	24.0	21.0		526,,,	-5.6	0.0	13	dbSNP_119	21	5238,1736		2020,1198,269	no	coding-synonymous,intron,intron,intron	ING1	NM_005537.3,NM_198217.1,NM_198218.1,NM_198219.1	,,,	2315,1955,933	TT,TC,CC		24.8925,39.2483,36.7192	,,,	176/423,,,	111368316	6585,3821	1716	3487	5203	SO:0001819	synonymous_variant	3621	exon1			GCATCTCTGCTGA		CCDS9515.1, CCDS9516.1, CCDS9517.1, CCDS9518.1	13q34	2013-01-28			ENSG00000153487	ENSG00000153487		"""Zinc fingers, PHD-type"""	6062	protein-coding gene	gene with protein product	"""inhibitor of growth 1"", ""tumor suppressor ING1"", ""growth inhibitor ING1"", ""growth inhibitory protein ING1"""	601566				8944021, 9186514	Standard	NM_198219		Approved	p33ING1, p33ING1b, p24ING1c, p33, p47, p47ING1a	uc001vri.3	Q9UK53	OTTHUMG00000017346	ENST00000375774.3:c.526C>T	13.37:g.111368316C>T		0	0		7	7	NM_005537	0	0	1	2	1	O00532|O43658|Q53ZR3|Q5T9G8|Q5T9G9|Q5T9H0|Q5T9H1|Q9H007|Q9HD98|Q9HD99|Q9NS83|Q9P0U6|Q9UBC6|Q9UIJ1|Q9UIJ2|Q9UIJ3|Q9UIJ4|Q9UK52	Silent	SNP	ENST00000375774.3	37	CCDS9517.1																																																																																			C|0.372;T|0.628		0.706	ING1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045770.2	NM_005537	
DCUN1D2	55208	bcgsc.ca	37	13	114112384	114112384	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr13:114112384G>T	ENST00000478244.1	-	7	1022	c.740C>A	c.(739-741)gCa>gAa	p.A247E	DCUN1D2_ENST00000332592.3_Missense_Mutation_p.A114E	NM_001014283.1	NP_001014305.1	Q6PH85	DCNL2_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 2	247	DCUN1. {ECO:0000255|PROSITE- ProRule:PRU00574}.									breast(1)|endometrium(1)|large_intestine(1)|lung(3)|stomach(1)	7	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.029)|GBM - Glioblastoma multiforme(44;0.234)			TACTGGCCGTGCATATTCTAC	0.433											OREG0022535	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A247E		.											.	DCUN1D2-90	0			c.C740A						.						217.0	224.0	222.0					13																	114112384		2203	4300	6503	SO:0001583	missense	55208	exon7			GGCCGTGCATATT	AK001566	CCDS32013.1	13q34	2013-06-10	2013-06-10	2005-10-04	ENSG00000150401	ENSG00000150401			20328	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 17"", ""DCN1, defective in cullin neddylation 1, domain containing 2 (S. cerevisiae)"""	C13orf17		15988528	Standard	XM_005268320		Approved	FLJ10704, FLJ20092	uc001vtr.1	Q6PH85	OTTHUMG00000017390	ENST00000478244.1:c.740C>A	13.37:g.114112384G>T	ENSP00000417706:p.Ala247Glu	84	0	1455	82	5	NM_001014283	0	0	10	10	0	Q5JSA5|Q5JSA6|Q5JSA7|Q9NVJ1|Q9NXR6	Missense_Mutation	SNP	ENST00000478244.1	37	CCDS32013.1	.	.	.	.	.	.	.	.	.	.	G	15.12	2.740095	0.49045	.	.	ENSG00000150401	ENST00000332592;ENST00000478244	.	.	.	4.9	4.06	0.47325	Domain of unknown function DUF298 (2);	0.000000	0.85682	D	0.000000	T	0.67221	0.2870	L	0.52206	1.635	0.80722	D	1	D	0.63880	0.993	D	0.68353	0.957	T	0.63400	-0.6646	9	0.27082	T	0.32	.	13.1847	0.59673	0.077:0.0:0.923:0.0	.	247	Q6PH85	DCNL2_HUMAN	E	114;247	.	ENSP00000330629:A114E	A	-	2	0	DCUN1D2	113160385	1.000000	0.71417	0.157000	0.22605	0.006000	0.05464	5.915000	0.69973	1.069000	0.40788	0.655000	0.94253	GCA	.		0.433	DCUN1D2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045938.4	NM_018185	
FOXA1	3169	hgsc.bcm.edu	37	14	38061547	38061547	+	Missense_Mutation	SNP	G	G	C	rs112819884	byFrequency	TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr14:38061547G>C	ENST00000250448.2	-	2	503	c.442C>G	c.(442-444)Ctg>Gtg	p.L148V	FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Missense_Mutation_p.L115V	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	148					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		ctgcggcccAGGTTGGACGGC	0.706													G|||	26	0.00519169	0.0015	0.0072	5008	,	,		11950	0.0		0.0159	False		,,,				2504	0.0031				p.L148V		.											.	FOXA1-226	0			c.C442G						.	G	VAL/LEU	15,4381		0,15,2183	27.0	28.0	28.0		442	2.0	1.0	14	dbSNP_132	28	164,8384		4,156,4114	yes	missense	FOXA1	NM_004496.2	32	4,171,6297	CC,CG,GG		1.9186,0.3412,1.3829	benign	148/473	38061547	179,12765	2198	4274	6472	SO:0001583	missense	3169	exon2			GGCCCAGGTTGGA	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"""Forkhead boxes"""	5021	protein-coding gene	gene with protein product		602294	"""hepatocyte nuclear factor 3, alpha"""	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.442C>G	14.37:g.38061547G>C	ENSP00000250448:p.Leu148Val	1	0		8	8	NM_004496	0	0	0	0	0	B2R9H6|B7ZAP5|Q9H2A0	Missense_Mutation	SNP	ENST00000250448.2	37	CCDS9665.1	13	0.005952380952380952	0	0.0	2	0.0055248618784530384	0	0.0	11	0.014511873350923483	G	14.49	2.551711	0.45487	0.003412	0.019186	ENSG00000129514	ENST00000250448;ENST00000540786	T;T	0.19394	2.15;2.15	3.9	2.05	0.26809	Fork-head N-terminal (1);	1.490980	0.04311	N	0.349066	T	0.12433	0.0302	L	0.54323	1.7	0.40442	D	0.980059	P	0.36412	0.552	B	0.38428	0.273	T	0.07009	-1.0795	10	0.56958	D	0.05	.	5.0319	0.14413	0.1815:0.0:0.6544:0.1641	.	148	P55317	FOXA1_HUMAN	V	148;115	ENSP00000250448:L148V;ENSP00000440178:L115V	ENSP00000250448:L148V	L	-	1	2	FOXA1	37131298	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	3.689000	0.54706	0.320000	0.23234	-0.362000	0.07510	CTG	G|0.992;C|0.008		0.706	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1		
LTK	4058	hgsc.bcm.edu	37	15	41803754	41803754	+	Missense_Mutation	SNP	G	G	A	rs55739813	byFrequency	TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr15:41803754G>A	ENST00000263800.6	-	6	776	c.680C>T	c.(679-681)cCg>cTg	p.P227L	LTK_ENST00000453182.2_Missense_Mutation_p.P227L|LTK_ENST00000355166.5_Missense_Mutation_p.P227L|LTK_ENST00000561619.1_Intron	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	227					cell proliferation (GO:0008283)|cellular response to retinoic acid (GO:0071300)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of neuron projection development (GO:0010976)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		CACCAGCAACGGTTCCAGCTC	0.736										TSP Lung(18;0.14)			G|||	160	0.0319489	0.0038	0.0692	5008	,	,		8690	0.0119		0.0517	False		,,,				2504	0.044				p.P227L		.											.	LTK-1377	0			c.C680T						.	G	LEU/PRO,LEU/PRO,LEU/PRO	29,3047		0,29,1509	5.0	6.0	6.0		680,680,680	2.9	1.0	15	dbSNP_129	6	336,6434		4,328,3053	yes	missense,missense,missense	LTK	NM_001135685.1,NM_002344.5,NM_206961.3	98,98,98	4,357,4562	AA,AG,GG		4.9631,0.9428,3.7071	probably-damaging,probably-damaging,probably-damaging	227/735,227/865,227/804	41803754	365,9481	1538	3385	4923	SO:0001583	missense	4058	exon6			AGCAACGGTTCCA	D16105	CCDS10077.1, CCDS10078.1, CCDS45237.1	15q15.1-q21.1	2009-07-10	2008-01-23		ENSG00000062524	ENSG00000062524	2.7.10.1		6721	protein-coding gene	gene with protein product		151520	"""leukocyte tyrosine kinase"""			2320375	Standard	NM_206961		Approved	TYK1	uc001zoa.3	P29376	OTTHUMG00000130339	ENST00000263800.6:c.680C>T	15.37:g.41803754G>A	ENSP00000263800:p.Pro227Leu	0	0		8	8	NM_001135685	0	0	0	0	0	A6NNJ8|B4DL89|E9PFX4	Missense_Mutation	SNP	ENST00000263800.6	37	CCDS10077.1	80	0.03663003663003663	8	0.016260162601626018	26	0.0718232044198895	7	0.012237762237762238	39	0.051451187335092345	G	17.32	3.359770	0.61403	0.009428	0.049631	ENSG00000062524	ENST00000360087;ENST00000355166;ENST00000263800;ENST00000453182	T;T;T	0.40476	1.03;1.03;1.03	3.86	2.94	0.34122	.	.	.	.	.	T	0.09512	0.0234	M	0.62016	1.91	0.39097	D	0.961214	P;P;D	0.89917	0.658;0.606;1.0	B;B;D	0.97110	0.164;0.102;1.0	T	0.26052	-1.0114	9	0.87932	D	0	.	10.0097	0.41979	0.1032:0.0:0.8968:0.0	rs55739813	227;227;227	E9PFX4;P29376-4;P29376	.;.;LTK_HUMAN	L	227	ENSP00000347293:P227L;ENSP00000263800:P227L;ENSP00000392196:P227L	ENSP00000263800:P227L	P	-	2	0	LTK	39591046	1.000000	0.71417	0.999000	0.59377	0.333000	0.28666	5.205000	0.65186	0.603000	0.29913	0.455000	0.32223	CCG	G|0.962;A|0.038		0.736	LTK-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252690.2		
LACTB	114294	hgsc.bcm.edu	37	15	63414083	63414083	+	Missense_Mutation	SNP	A	A	C	rs34317102	byFrequency	TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr15:63414083A>C	ENST00000261893.4	+	1	85	c.13A>C	c.(13-15)Atg>Ctg	p.M5L	LACTB_ENST00000413507.2_Missense_Mutation_p.M5L	NM_032857.3	NP_116246.2	P83111	LACTB_HUMAN	lactamase, beta	5				M -> L (in Ref. 1 and 2). {ECO:0000305}.		cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(1)	12						GTACCGGCTCATGTCAGCAGT	0.751													C|||	3981	0.794928	0.6725	0.8256	5008	,	,		8367	0.997		0.7316	False		,,,				2504	0.7955				p.M5L	Melanoma(85;443 1381 6215 27308 35583)	.											.	LACTB-90	0			c.A13C						.	C	LEU/MET,LEU/MET	1936,668		733,470,99	4.0	4.0	4.0		13,13	3.1	1.0	15	dbSNP_126	4	4375,1183		1737,901,141	yes	missense,missense	LACTB	NM_032857.3,NM_171846.2	15,15	2470,1371,240	CC,CA,AA		21.2846,25.6528,22.6783	benign,benign	5/548,5/374	63414083	6311,1851	1302	2779	4081	SO:0001583	missense	114294	exon1			CGGCTCATGTCAG	AK027808	CCDS10182.1, CCDS45275.1	15q22.1	2012-11-14	2001-12-12	2001-12-14	ENSG00000103642	ENSG00000103642		"""Mitochondrial ribosomal proteins / large subunits"""	16468	protein-coding gene	gene with protein product		608440	"""mitochondrial ribosomal protein L56"""	MRPL56		11707067	Standard	NM_032857		Approved	FLJ14902	uc002alw.3	P83111	OTTHUMG00000132807	ENST00000261893.4:c.13A>C	15.37:g.63414083A>C	ENSP00000261893:p.Met5Leu	0	0		7	7	NM_171846	0	0	0	3	3	P83096	Missense_Mutation	SNP	ENST00000261893.4	37	CCDS10182.1	1713	0.7843406593406593	304	0.6178861788617886	287	0.7928176795580111	568	0.993006993006993	554	0.7308707124010554	C	0.674	-0.800779	0.02841	0.743472	0.787154	ENSG00000103642	ENST00000261893;ENST00000413507	T	0.33216	1.42	3.1	3.1	0.35709	.	0.592824	0.14749	N	0.300689	T	0.00012	0.0000	N	0.02539	-0.55	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.37842	-0.9688	9	0.02654	T	1	0.0321	7.626	0.28212	0.2541:0.7459:0.0:0.0	rs34317102	5	P83111	LACTB_HUMAN	L	5	ENSP00000261893:M5L	ENSP00000261893:M5L	M	+	1	0	LACTB	61201136	0.994000	0.37717	0.956000	0.39512	0.117000	0.20001	0.346000	0.19997	0.640000	0.30582	-0.677000	0.03784	ATG	A|0.226;C|0.774		0.751	LACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256224.1	NM_032857	
NEO1	4756	ucsc.edu	37	15	73428301	73428301	+	Silent	SNP	G	G	T			TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr15:73428301G>T	ENST00000339362.5	+	6	1395	c.948G>T	c.(946-948)ggG>ggT	p.G316G	NEO1_ENST00000261908.6_Silent_p.G316G|NEO1_ENST00000558964.1_Silent_p.G316G|NEO1_ENST00000560262.1_Silent_p.G316G			Q92859	NEO1_HUMAN	neogenin 1	316	Ig-like C2-type 3.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|iron ion homeostasis (GO:0055072)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						ATGATGCTGGGACTTATTTTT	0.338																																					p.G316G		.											.	NEO1-116	0			c.G948T						.						108.0	109.0	109.0					15																	73428301		2198	4297	6495	SO:0001819	synonymous_variant	4756	exon5			TGCTGGGACTTAT	U61262	CCDS10247.1, CCDS53957.1, CCDS58378.1	15q22.3-q23	2014-06-20	2010-06-24		ENSG00000067141	ENSG00000067141		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7754	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 2"""	601907	"""neogenin (chicken) homolog 1"""			9121761	Standard	NM_002499		Approved	NGN, HsT17534, IGDCC2, NTN1R2	uc002avm.4	Q92859	OTTHUMG00000133509	ENST00000339362.5:c.948G>T	15.37:g.73428301G>T		36	0		36	4	NM_001172623	0	0	1	1	0	B7ZKM9|B7ZKN0|O00340|Q17RX1	Silent	SNP	ENST00000339362.5	37	CCDS10247.1																																																																																			.		0.338	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257472.2	NM_002499	
ADAMTS7	11173	bcgsc.ca	37	15	79057989	79057989	+	Missense_Mutation	SNP	C	C	T	rs200769684		TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr15:79057989C>T	ENST00000388820.4	-	19	4474	c.4264G>A	c.(4264-4266)Gag>Aag	p.E1422K	ADAMTS7_ENST00000566303.1_5'Flank	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1422	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				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)	p.E1422K(3)		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						CCACTTGCCTCGCTCCAGTTT	0.657																																					p.E1422K		.											.	ADAMTS7-226	3	Substitution - Missense(3)	skin(2)|NS(1)	c.G4264A						.						31.0	34.0	33.0					15																	79057989		2188	4275	6463	SO:0001583	missense	11173	exon19			TTGCCTCGCTCCA	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.4264G>A	15.37:g.79057989C>T	ENSP00000373472:p.Glu1422Lys	70	6		81	19	NM_014272	0	0	0	0	0	Q14F51|Q6P7J9	Missense_Mutation	SNP	ENST00000388820.4	37	CCDS32303.1	.	.	.	.	.	.	.	.	.	.	c	8.994	0.978370	0.18812	.	.	ENSG00000136378	ENST00000388820	T	0.54279	0.58	4.21	-8.41	0.00961	.	0.609972	0.15843	N	0.241932	T	0.35248	0.0925	L	0.51914	1.62	0.19775	N	0.999954	B	0.14012	0.009	B	0.10450	0.005	T	0.45483	-0.9258	10	0.07325	T	0.83	.	13.64	0.62243	0.0:0.6736:0.1359:0.1905	.	1422	Q9UKP4	ATS7_HUMAN	K	1422	ENSP00000373472:E1422K	ENSP00000373472:E1422K	E	-	1	0	ADAMTS7	76845044	0.010000	0.17322	0.706000	0.30403	0.289000	0.27227	-0.206000	0.09398	-1.547000	0.01715	-2.551000	0.00177	GAG	C|0.999;T|0.001		0.657	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272	
CACNA1H	8912	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	1254107	1254107	+	Nonsense_Mutation	SNP	C	C	A			TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr16:1254107C>A	ENST00000348261.5	+	10	2348	c.2100C>A	c.(2098-2100)tgC>tgA	p.C700*	CACNA1H_ENST00000565831.1_Nonsense_Mutation_p.C700*|RP11-616M22.3_ENST00000564700.1_RNA|CACNA1H_ENST00000358590.4_Nonsense_Mutation_p.C700*	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	700					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	TGAAGAGCTGCCCGTACTGCA	0.677																																					p.C700X		.											.	CACNA1H-67	0			c.C2100A						.						18.0	22.0	21.0					16																	1254107		2063	4202	6265	SO:0001587	stop_gained	8912	exon10			GAGCTGCCCGTAC	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.2100C>A	16.37:g.1254107C>A	ENSP00000334198:p.Cys700*	71	0		131	64	NM_021098	0	0	23	31	8	B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Nonsense_Mutation	SNP	ENST00000348261.5	37	CCDS45375.1	.	.	.	.	.	.	.	.	.	.	C	32	5.115786	0.94339	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	.	.	.	4.05	3.1	0.35709	.	0.233988	0.43919	D	0.000516	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.3351	0.38045	0.0:0.8159:0.0:0.1841	.	.	.	.	X	700	.	ENSP00000334198:C700X	C	+	3	2	CACNA1H	1194108	0.997000	0.39634	0.993000	0.49108	0.321000	0.28281	0.532000	0.23067	0.932000	0.37266	0.561000	0.74099	TGC	.		0.677	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407	
EME2	197342	hgsc.bcm.edu	37	16	1823444	1823444	+	Silent	SNP	C	C	G	rs761065	byFrequency	TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr16:1823444C>G	ENST00000568449.1	+	1	237	c.216C>G	c.(214-216)gtC>gtG	p.V72V	EME2_ENST00000307394.7_Silent_p.V72V|MRPS34_ENST00000177742.3_5'Flank|NME3_ENST00000563498.1_5'Flank|NME3_ENST00000219302.3_5'Flank|MRPS34_ENST00000397375.2_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		1	0		11	6	NM_001257370	0	0	1	1	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	
ZNF598	90850	hgsc.bcm.edu	37	16	2059674	2059674	+	Missense_Mutation	SNP	T	T	C	rs71384660		TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr16:2059674T>C	ENST00000431526.1	-	2	88	c.74A>G	c.(73-75)gAa>gGa	p.E25G	ZNF598_ENST00000563630.1_5'UTR|ZNF598_ENST00000562103.1_5'UTR	NM_178167.2	NP_835461.2	Q86UK7	ZN598_HUMAN	zinc finger protein 598	25							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						GCTCCCGCCTTCCCGCTCAGG	0.766													C|||	5008	1.0	1.0	1.0	5008	,	,		5162	1.0		1.0	False		,,,				2504	1.0				p.E25G		.											.	ZNF598-432	0			c.A74G						.						1.0	2.0	2.0					16																	2059674		1089	2314	3403	SO:0001583	missense	90850	exon2			CCGCCTTCCCGCT	BC029270		16p13.3	2008-05-02				ENSG00000167962		"""Zinc fingers, C2H2-type"""	28079	protein-coding gene	gene with protein product							Standard	NM_178167		Approved	FLJ00086	uc002cof.2	Q86UK7		ENST00000431526.1:c.74A>G	16.37:g.2059674T>C	ENSP00000411409:p.Glu25Gly	0	0		4	4	NM_178167	0	0	0	9	9	Q8IW49|Q8N3D9|Q96FG3|Q9H7J3	Missense_Mutation	SNP	ENST00000431526.1	37		2168	0.9926739926739927	487	0.9898373983739838	361	0.9972375690607734	568	0.993006993006993	752	0.9920844327176781	N	1.560	-0.537056	0.04082	.	.	ENSG00000167962	ENST00000431526	T	0.77098	-1.07	3.3	3.3	0.37823	.	0.415485	0.23105	N	0.051871	T	0.00012	0.0000	.	.	.	0.48696	P	3.1000000000003247E-4	.	.	.	.	.	.	T	0.34650	-0.9820	6	0.22706	T	0.39	-7.8624	8.393	0.32540	0.0:0.8796:0.0:0.1204	.	.	.	.	G	25	ENSP00000411409:E25G	ENSP00000411409:E25G	E	-	2	0	ZNF598	1999675	1.000000	0.71417	1.000000	0.80357	0.107000	0.19398	0.911000	0.28584	0.691000	0.31592	-0.642000	0.03964	GAA	T|0.007;C|0.993		0.766	ZNF598-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_178167	
E4F1	1877	broad.mit.edu	37	16	2282180	2282180	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr16:2282180C>A	ENST00000301727.4	+	4	472	c.424C>A	c.(424-426)Cac>Aac	p.H142N	E4F1_ENST00000564139.1_Missense_Mutation_p.H142N|E4F1_ENST00000565090.1_Missense_Mutation_p.H142N	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	142					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|mitotic cell cycle arrest (GO:0071850)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell cycle process (GO:0010564)|regulation of growth (GO:0040008)|regulation of mitotic cell cycle, embryonic (GO:0009794)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	cAMP response element binding (GO:0035497)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			ovary(1)	1						AGGTGGTGGGCACATCAAAGA	0.687																																					p.H142N		.											.	E4F1-187	0			c.C424A						.						62.0	74.0	70.0					16																	2282180		2196	4292	6488	SO:0001583	missense	1877	exon4			GGTGGGCACATCA	U87269	CCDS32370.1, CCDS73809.1, CCDS73810.1	16p13.3	2013-01-08				ENSG00000167967		"""Zinc fingers, C2H2-type"""	3121	protein-coding gene	gene with protein product		603022				9763670, 8828041	Standard	XM_005255155		Approved	E4F	uc002cpm.3	Q66K89		ENST00000301727.4:c.424C>A	16.37:g.2282180C>A	ENSP00000301727:p.His142Asn	8	0		42	5	NM_004424	0	0	3	3	0	A8K2R4|O00146	Missense_Mutation	SNP	ENST00000301727.4	37	CCDS32370.1	.	.	.	.	.	.	.	.	.	.	C	12.62	1.993031	0.35131	.	.	ENSG00000167967	ENST00000301727	T	0.06218	3.33	5.33	1.97	0.26223	.	0.446382	0.27705	N	0.018185	T	0.14098	0.0341	L	0.42245	1.32	0.40811	D	0.98342	B;B;D	0.63880	0.076;0.076;0.993	B;B;D	0.70227	0.041;0.021;0.968	T	0.01397	-1.1365	10	0.87932	D	0	-13.8253	8.2677	0.31824	0.3165:0.5301:0.1534:0.0	.	138;142;142	E9PFZ8;E7EMF7;Q66K89	.;.;E4F1_HUMAN	N	142	ENSP00000301727:H142N	ENSP00000301727:H142N	H	+	1	0	E4F1	2222181	1.000000	0.71417	0.983000	0.44433	0.868000	0.49771	1.279000	0.33191	0.569000	0.29329	0.561000	0.74099	CAC	.		0.687	E4F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435225.1	NM_004424	
VASN	114990	hgsc.bcm.edu;broad.mit.edu	37	16	4431679	4431679	+	Silent	SNP	G	G	A			TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr16:4431679G>A	ENST00000304735.3	+	2	956	c.801G>A	c.(799-801)caG>caA	p.Q267Q	CORO7_ENST00000539968.1_Intron|CORO7-PAM16_ENST00000572467.1_Intron|CORO7_ENST00000574025.1_Intron|CORO7_ENST00000251166.4_Intron|CORO7_ENST00000423908.2_Intron|CORO7_ENST00000537233.2_Intron	NM_138440.2	NP_612449.2	Q6EMK4	VASN_HUMAN	vasorin	267					cellular response to hypoxia (GO:0071456)|cellular response to redox state (GO:0071461)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	transforming growth factor beta binding (GO:0050431)			breast(1)|lung(3)|prostate(1)|skin(1)	6						CTGCCCTGCAGGAGCTGGATG	0.726																																					p.Q267Q		.											.	VASN-68	0			c.G801A						.						9.0	11.0	11.0					16																	4431679		2172	4269	6441	SO:0001819	synonymous_variant	114990	exon2			CCTGCAGGAGCTG	AY358299	CCDS10514.1	16p13.3	2008-02-05	2006-03-30	2006-03-30	ENSG00000168140	ENSG00000168140			18517	protein-coding gene	gene with protein product		608843	"""slit-like 2 (Drosophila)"""	SLITL2		15247411	Standard	NM_138440		Approved		uc002cwj.1	Q6EMK4	OTTHUMG00000129469	ENST00000304735.3:c.801G>A	16.37:g.4431679G>A		11	0		71	16	NM_138440	0	0	1	1	0	Q6UXL4|Q6UXL5|Q96CX1	Silent	SNP	ENST00000304735.3	37	CCDS10514.1																																																																																			.		0.726	VASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251632.1	NM_138440	
VAT1L	57687	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	77918647	77918647	+	Missense_Mutation	SNP	A	A	T			TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr16:77918647A>T	ENST00000302536.2	+	7	1178	c.1025A>T	c.(1024-1026)tAc>tTc	p.Y342F		NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	342							oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						ATAGGGCTCTACAACCAGAAG	0.483																																					p.Y342F		.											.	VAT1L-90	0			c.A1025T						.						47.0	48.0	48.0					16																	77918647		2198	4300	6498	SO:0001583	missense	57687	exon7			GGCTCTACAACCA	AB046796	CCDS32492.1	16q23.1	2014-09-09	2013-08-23		ENSG00000171724	ENSG00000171724			29315	protein-coding gene	gene with protein product			"""vesicle amine transport protein 1 homolog (T. californica)-like"""			10997877	Standard	NM_020927		Approved	KIAA1576	uc002ffg.1	Q9HCJ6	OTTHUMG00000176845	ENST00000302536.2:c.1025A>T	16.37:g.77918647A>T	ENSP00000303129:p.Tyr342Phe	70	0		78	7	NM_020927	0	0	102	105	3	Q8IYW8	Missense_Mutation	SNP	ENST00000302536.2	37	CCDS32492.1	.	.	.	.	.	.	.	.	.	.	A	15.78	2.933629	0.52866	.	.	ENSG00000171724	ENST00000302536	T	0.08008	3.14	5.92	5.92	0.95590	NAD(P)-binding domain (1);	0.054032	0.85682	D	0.000000	T	0.06872	0.0175	N	0.16266	0.395	0.58432	D	0.999999	B	0.10296	0.003	B	0.12156	0.007	T	0.40905	-0.9538	10	0.24483	T	0.36	-2.5168	16.0209	0.80493	1.0:0.0:0.0:0.0	.	342	Q9HCJ6	VAT1L_HUMAN	F	342	ENSP00000303129:Y342F	ENSP00000303129:Y342F	Y	+	2	0	VAT1L	76476148	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	6.997000	0.76270	2.266000	0.75297	0.455000	0.32223	TAC	.		0.483	VAT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434010.1	NM_020927	
ZFPM1	161882	hgsc.bcm.edu	37	16	88599697	88599705	+	In_Frame_Del	DEL	AGCCTCTGG	AGCCTCTGG	-	rs67873604|rs149145771|rs368520732|rs67322929|rs201915453|rs67712719	byFrequency	TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	AGCCTCTGG	AGCCTCTGG	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr16:88599697_88599705delAGCCTCTGG	ENST00000319555.3	+	10	1653_1661	c.1331_1339delAGCCTCTGG	c.(1330-1341)gagcctctggcc>gcc	p.EPL444del	RP11-21B21.4_ENST00000563243.1_RNA	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	444				EPLA -> AP (in Ref. 1; AAN45858). {ECO:0000305}.	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)		GCCAGAGCGGAGCCTCTGGCCCAGAATGG	0.746																																					p.444_447del	Pancreas(49;850 1106 29641 32847 38344)	.											.	ZFPM1-90	0			c.1331_1339del						.																																			SO:0001651	inframe_deletion	161882	exon10			GAGCGGAGCCTCT	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.1331_1339delAGCCTCTGG	16.37:g.88599697_88599705delAGCCTCTGG	ENSP00000326630:p.Glu444_Leu446del	1	0		17	0	NM_153813	0	0	0	0	0		In_Frame_Del	DEL	ENST00000319555.3	37	CCDS32502.1																																																																																			.		0.746	ZFPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422270.2		
GAS8	2622	bcgsc.ca	37	16	90095596	90095596	+	Intron	SNP	A	A	G	rs55742939	byFrequency	TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr16:90095596A>G	ENST00000268699.4	+	2	212				GAS8_ENST00000536122.1_Intron|C16orf3_ENST00000408886.2_Missense_Mutation_p.I52T|GAS8_ENST00000540721.1_Intron	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8						cellular protein localization (GO:0034613)|negative regulation of cell proliferation (GO:0008285)|sperm motility (GO:0030317)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile cilium (GO:0031514)				endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		ggggcaggctatggggcagcc	0.662													a|||	2317	0.46266	0.3767	0.4611	5008	,	,		15261	0.63		0.3757	False		,,,				2504	0.4969				p.I52T		.											.	C16orf3-90	0			c.T155C						.						20.0	22.0	22.0					16																	90095596		2196	4299	6495	SO:0001627	intron_variant	750	exon1			CAGGCTATGGGGC	AF050079	CCDS10992.1, CCDS67101.1, CCDS73932.1	16q24.3	2014-07-18	2003-01-16	2003-01-17	ENSG00000141013	ENSG00000141013			4166	protein-coding gene	gene with protein product		605178	"""growth arrest-specific 11"""	GAS11		9790751	Standard	NM_001481		Approved		uc002fqi.1	O95995	OTTHUMG00000138988	ENST00000268699.4:c.90+1466A>G	16.37:g.90095596A>G		37	0		85	7	NM_001214	0	0	0	0	0	B2RCT1|B7Z4U1|G3V1L5|Q2M234	Missense_Mutation	SNP	ENST00000268699.4	37	CCDS10992.1	.	.	.	.	.	.	.	.	.	.	a	0.042	-1.279284	0.01410	.	.	ENSG00000221819	ENST00000408886	T	0.51817	0.69	.	.	.	.	.	.	.	.	T	0.17280	0.0415	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14531	-1.0469	6	.	.	.	.	.	.	.	rs55742939	60	O95177	CP003_HUMAN	T	52	ENSP00000386218:I52T	.	I	-	2	0	C16orf3	88623097	0.006000	0.16342	0.000000	0.03702	0.009000	0.06853	-1.935000	0.01550	-2.550000	0.00480	-1.973000	0.00462	ATA	A|0.500;G|0.500		0.662	GAS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272877.2		
SLC46A1	113235	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	26723260	26723260	+	3'UTR	SNP	C	C	A	rs530770250		TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr17:26723260C>A	ENST00000440501.1	-	0	4887				SLC46A1_ENST00000321666.5_3'UTR|SARM1_ENST00000379061.4_3'UTR|SARM1_ENST00000457710.3_Silent_p.G676G|SLC46A1_ENST00000584729.1_5'UTR	NM_080669.4	NP_542400.2	Q96NT5	PCFT_HUMAN	solute carrier family 46 (folate transporter), member 1						cellular iron ion homeostasis (GO:0006879)|folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|heme transporter activity (GO:0015232)|methotrexate transporter activity (GO:0015350)			lung(5)	5	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Folic Acid(DB00158)|Methotrexate(DB00563)|Sulfasalazine(DB00795)	CATCTGCAGGCTCTGACACCA	0.597																																					p.G709G		.											.	.	0			c.C2127A						.						85.0	85.0	85.0					17																	26723260		2203	4300	6503	SO:0001624	3_prime_UTR_variant	23098	exon10			TGCAGGCTCTGAC	AK054669	CCDS74019.1, CCDS74020.1	17q11.2	2014-09-17	2007-09-24			ENSG00000076351		"""Solute carriers"""	30521	protein-coding gene	gene with protein product	"""heme carrier protein 1"", ""proton-coupled folate transporter"""	611672	"""solute carrier family 46, member 1"""			16143108, 17129779	Standard	XM_005277786		Approved	HCP1, MGC9564, PCFT	uc002hbf.2	Q96NT5		ENST00000440501.1:c.*3412G>T	17.37:g.26723260C>A		61	0		41	18	NM_015077	0	0	3	6	3	Q1HE20|Q86T92|Q8TEG3|Q96FL0	Silent	SNP	ENST00000440501.1	37																																																																																				.		0.597	SLC46A1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_080669	
GPR179	440435	broad.mit.edu	37	17	36483472	36483472	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr17:36483472C>A	ENST00000342292.4	-	11	6000	c.5980G>T	c.(5980-5982)Gcc>Tcc	p.A1994S	GPR179_ENST00000584976.1_Intron	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1994					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				ACGTCAGCGGCCCTGCCCCCA	0.572																																					p.A1994S		.											.	GPR179-93	0			c.G5980T						.						58.0	58.0	58.0					17																	36483472		2022	4189	6211	SO:0001583	missense	440435	exon11			CAGCGGCCCTGCC		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.5980G>T	17.37:g.36483472C>A	ENSP00000345060:p.Ala1994Ser	80	1		61	6	NM_001004334	0	0	0	0	0		Missense_Mutation	SNP	ENST00000342292.4	37	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	C	12.10	1.838049	0.32513	.	.	ENSG00000188888	ENST00000342292	T	0.50548	0.74	4.78	-0.835	0.10775	.	2.989320	0.01141	N	0.006215	T	0.35941	0.0949	L	0.52573	1.65	0.09310	N	1	B	0.31910	0.346	B	0.24269	0.052	T	0.07252	-1.0782	10	0.08599	T	0.76	3.1037	6.0046	0.19539	0.0:0.5146:0.1542:0.3312	.	1994	Q6PRD1	GP179_HUMAN	S	1994	ENSP00000345060:A1994S	ENSP00000345060:A1994S	A	-	1	0	GPR179	33736998	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.142000	0.16096	-0.259000	0.09432	0.561000	0.74099	GCC	.		0.572	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2		
TEN1	100134934	broad.mit.edu	37	17	73987643	73987643	+	Silent	SNP	G	G	A			TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr17:73987643G>A	ENST00000397640.1	+	3	487	c.189G>A	c.(187-189)gaG>gaA	p.E63E	TEN1_ENST00000416485.1_Silent_p.E62E|TEN1-CDK3_ENST00000567351.1_RNA|TEN1_ENST00000588202.1_Silent_p.E63E	NM_001113324.2	NP_001106795.2	Q86WV5	TEN1L_HUMAN	TEN1 CST complex subunit	63						nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)			breast(1)	1						AGTTGGTGGAGCCCTTCCACG	0.582																																					p.E63E		.											.	.	0			c.G189A						.						157.0	129.0	138.0					17																	73987643		692	1591	2283	SO:0001819	synonymous_variant	100134934	exon3			GGTGGAGCCCTTC		CCDS45780.1, CCDS45780.2	17q25.1	2013-05-23	2013-05-23	2011-06-14	ENSG00000257949	ENSG00000257949			37242	protein-coding gene	gene with protein product		613130	"""chromosome 17 open reading frame 106"", ""TEN1 telomerase capping complex subunit homolog (S. cerevisiae)"""	C17orf106		19854130	Standard	NM_001113324		Approved	FLJ39785		Q86WV5	OTTHUMG00000132686	ENST00000397640.1:c.189G>A	17.37:g.73987643G>A		99	0		78	4	NM_001113324	0	1	38	39	0	I3L0C7	Silent	SNP	ENST00000397640.1	37	CCDS45780.2																																																																																			.		0.582	TEN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255983.1	NM_001113324	
EMILIN2	84034	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	18	2892375	2892375	+	Silent	SNP	G	G	A			TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr18:2892375G>A	ENST00000254528.3	+	4	2409	c.2250G>A	c.(2248-2250)tcG>tcA	p.S750S		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	750					cell adhesion (GO:0007155)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		CGCTCAGGTCGCATTCCAGAG	0.483																																					p.S750S		.											.	EMILIN2-93	0			c.G2250A						.						62.0	57.0	59.0					18																	2892375		2203	4300	6503	SO:0001819	synonymous_variant	84034	exon4			CAGGTCGCATTCC	AF270513	CCDS11828.1	18p11.3	2008-02-05			ENSG00000132205	ENSG00000132205		"""EMI domain containing"""	19881	protein-coding gene	gene with protein product		608928					Standard	NM_032048		Approved	FLJ33200, FOAP-10	uc002kln.3	Q9BXX0	OTTHUMG00000128525	ENST00000254528.3:c.2250G>A	18.37:g.2892375G>A		29	0		15	9	NM_032048	0	0	0	0	0	B2RMY3|Q8NBH3|Q96JQ4	Silent	SNP	ENST00000254528.3	37	CCDS11828.1																																																																																			.		0.483	EMILIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250337.2	NM_032048	
RAVER1	125950	broad.mit.edu	37	19	10433923	10433923	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr19:10433923G>A	ENST00000293677.6	-	5	1108	c.1027C>T	c.(1027-1029)Ccc>Tcc	p.P343S	CTD-2369P2.12_ENST00000586529.1_5'Flank	NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	ribonucleoprotein, PTB-binding 1	326	Interaction with PTBP1. {ECO:0000250}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			TTGGGCTCGGGGAGGAGTCCC	0.667																																					p.P343S		.											.	RAVER1-91	0			c.C1027T						.						37.0	41.0	40.0					19																	10433923		2047	4199	6246	SO:0001583	missense	125950	exon5			GCTCGGGGAGGAG		CCDS45960.1	19p13.2	2013-02-12				ENSG00000161847		"""RNA binding motif (RRM) containing"""	30296	protein-coding gene	gene with protein product		609950				11853319, 11724819	Standard	NM_133452		Approved	KIAA1978	uc002moa.3	Q8IY67		ENST00000293677.6:c.1027C>T	19.37:g.10433923G>A	ENSP00000293677:p.Pro343Ser	111	0		108	5	NM_133452	0	0	27	27	0	A6NMU4|Q8IY60|Q8TF24	Missense_Mutation	SNP	ENST00000293677.6	37	CCDS45960.1	.	.	.	.	.	.	.	.	.	.	g	16.22	3.060701	0.55432	.	.	ENSG00000161847	ENST00000293677;ENST00000331131	T	0.18810	2.19	4.98	2.82	0.32997	.	0.200808	0.43110	D	0.000619	T	0.36468	0.0968	L	0.54323	1.7	0.33402	D	0.577482	D	0.89917	1.0	D	0.91635	0.999	T	0.48525	-0.9028	10	0.87932	D	0	-12.6954	7.7382	0.28827	0.0876:0.0:0.75:0.1625	.	343	E9PAU2	.	S	343;326	ENSP00000293677:P343S	ENSP00000293677:P343S	P	-	1	0	RAVER1	10294923	1.000000	0.71417	0.370000	0.25965	0.371000	0.29859	8.896000	0.92521	0.504000	0.28082	0.506000	0.49869	CCC	.		0.667	RAVER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451227.1	NM_133452	
EMR2	30817	bcgsc.ca	37	19	14877820	14877820	+	Missense_Mutation	SNP	G	G	A	rs12976493	byFrequency	TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr19:14877820G>A	ENST00000315576.3	-	6	908	c.457C>T	c.(457-459)Ctc>Ttc	p.L153F	EMR2_ENST00000601345.1_Missense_Mutation_p.L153F|EMR2_ENST00000594294.1_Missense_Mutation_p.L153F|EMR2_ENST00000346057.1_Missense_Mutation_p.L153F|EMR2_ENST00000353005.1_Intron|EMR2_ENST00000599423.1_5'Flank|EMR2_ENST00000594076.1_Intron|EMR2_ENST00000353876.1_Intron|EMR2_ENST00000392967.2_Missense_Mutation_p.L153F|EMR2_ENST00000392965.3_Missense_Mutation_p.L153F|EMR2_ENST00000595839.1_Intron|EMR2_ENST00000392964.3_5'UTR|EMR2_ENST00000596991.2_Missense_Mutation_p.L153F	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	153	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|G-protein coupled receptor signaling pathway (GO:0007186)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						TCAGGTTTGAGCTTGAAGCCA	0.597													G|||	2024	0.404153	0.5749	0.4366	5008	,	,		12315	0.3373		0.4473	False		,,,				2504	0.1748				p.L153F		.											.	EMR2-524	0			c.C457T						.						58.0	59.0	59.0					19																	14877820		1523	3365	4888	SO:0001583	missense	30817	exon5			GTTTGAGCTTGAA	AF114491	CCDS32935.1, CCDS59361.1	19p13.1	2014-08-08	2003-11-26			ENSG00000127507		"""CD molecules"", ""-"", ""GPCR / Class B : Orphans"""	3337	protein-coding gene	gene with protein product		606100	"""egf-like module containing, mucin-like, hormone receptor-like sequence 2"""				Standard	NM_013447		Approved	CD312	uc002mzp.2	Q9UHX3		ENST00000315576.3:c.457C>T	19.37:g.14877820G>A	ENSP00000319883:p.Leu153Phe	107	9		28	18	NM_001271052	0	0	0	0	0	B4DQ96|E7ESD7|E9PBR1|E9PEL6|E9PFQ5|E9PG91|Q8NG96|Q9Y4B1	Missense_Mutation	SNP	ENST00000315576.3	37	CCDS32935.1	767	0.35119047619047616	232	0.4715447154471545	141	0.38950276243093923	148	0.25874125874125875	246	0.3245382585751979	G	0.014	-1.577939	0.00879	.	.	ENSG00000127507	ENST00000315576;ENST00000392967;ENST00000346057;ENST00000360222;ENST00000392965;ENST00000392962	D;D;T;D;D	0.88741	-2.42;-2.42;-1.42;-2.42;-2.42	3.06	-6.11	0.02131	EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.00012	0.0000	L	0.48218	1.51	0.80722	P	0.0	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.10450	0.001;0.002;0.002;0.005	T	0.15954	-1.0419	8	0.09843	T	0.71	.	6.3278	0.21253	0.607:0.0:0.2568:0.1362	rs12976493	153;153;153;153	E7ESD7;Q9UHX3-3;Q9UHX3;Q9UHX3-2	.;.;EMR2_HUMAN;.	F	153	ENSP00000319883:L153F;ENSP00000376694:L153F;ENSP00000263380:L153F;ENSP00000376692:L153F;ENSP00000376689:L153F	ENSP00000319883:L153F	L	-	1	0	EMR2	14738820	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.324000	0.07986	-1.716000	0.01387	-1.973000	0.00462	CTC	A|1.000;|0.000		0.597	EMR2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466502.2		
MAP1S	55201	hgsc.bcm.edu	37	19	17837425	17837425	+	Missense_Mutation	SNP	C	C	G	rs17710707	byFrequency	TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr19:17837425C>G	ENST00000324096.4	+	5	1383	c.1232C>G	c.(1231-1233)tCt>tGt	p.S411C	CTD-3149D2.4_ENST00000595363.1_RNA|MAP1S_ENST00000597681.1_Intron|MAP1S_ENST00000544059.2_Missense_Mutation_p.S385C	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	411	Necessary for the microtubule-organizing center localization.		S -> C (in dbSNP:rs17710707). {ECO:0000269|PubMed:15489334}.		apoptotic DNA fragmentation (GO:0006309)|brain development (GO:0007420)|execution phase of apoptosis (GO:0097194)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|nervous system development (GO:0007399)|neuron projection morphogenesis (GO:0048812)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	actin filament binding (GO:0051015)|beta-tubulin binding (GO:0048487)|DNA binding (GO:0003677)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						ACGCTGGCCTCTGTGTGCGCC	0.731													C|||	574	0.114617	0.0832	0.1772	5008	,	,		12607	0.0169		0.2068	False		,,,				2504	0.1186				p.S411C		.											.	MAP1S-90	0			c.C1232G						.	C	CYS/SER	344,3714		17,310,1702	5.0	5.0	5.0		1232	2.6	0.2	19	dbSNP_123	5	1234,6710		91,1052,2829	no	missense	MAP1S	NM_018174.4	112	108,1362,4531	GG,GC,CC		15.5337,8.4771,13.1478	probably-damaging	411/1060	17837425	1578,10424	2029	3972	6001	SO:0001583	missense	55201	exon5			TGGCCTCTGTGTG	BC067115	CCDS32954.1	19p13.12	2008-02-05	2006-07-04	2006-07-04		ENSG00000130479			15715	protein-coding gene	gene with protein product		607573	"""chromosome 19 open reading frame 5"", ""VCY2 interacting protein 1"", ""BPY2 interacting protein 1"""	C19orf5, VCY2IP1, BPY2IP1		11827465, 15528209, 16297881, 14627543	Standard	NM_018174		Approved	FLJ10669, MAP8	uc002nhe.1	Q66K74		ENST00000324096.4:c.1232C>G	19.37:g.17837425C>G	ENSP00000325313:p.Ser411Cys	0	0		15	14	NM_018174	0	0	0	10	10	B4DH53|Q27QB1|Q6NXF1|Q8N3L8|Q8N3W5|Q8NI88|Q96H94|Q96IT4|Q96SP8|Q9BRC6|Q9H928|Q9NVK7	Missense_Mutation	SNP	ENST00000324096.4	37	CCDS32954.1	257	0.11767399267399267	34	0.06910569105691057	66	0.18232044198895028	7	0.012237762237762238	150	0.19788918205804748	C	15.12	2.738952	0.49045	0.084771	0.155337	ENSG00000130479	ENST00000324096;ENST00000544059	T;T	0.03801	3.8;3.8	3.67	2.61	0.31194	.	0.155772	0.30277	N	0.009981	T	0.00012	0.0000	M	0.79614	2.46	0.09310	P	0.99999454915	D;D	0.89917	1.0;1.0	D;D	0.80764	0.977;0.994	T	0.06006	-1.0851	9	0.87932	D	0	-16.5051	8.9574	0.35827	0.0:0.8847:0.0:0.1153	rs17710707	385;411	B4DH53;Q66K74	.;MAP1S_HUMAN	C	411;385	ENSP00000325313:S411C;ENSP00000439243:S385C	ENSP00000325313:S411C	S	+	2	0	MAP1S	17698425	0.998000	0.40836	0.209000	0.23619	0.382000	0.30200	7.628000	0.83189	0.516000	0.28340	-0.291000	0.09656	TCT	C|0.883;G|0.117		0.731	MAP1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466027.1	NM_018174	
RINL	126432	hgsc.bcm.edu	37	19	39360720	39360720	+	Missense_Mutation	SNP	G	G	A	rs8110393	byFrequency	TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr19:39360720G>A	ENST00000591812.1	-	9	1291	c.1205C>T	c.(1204-1206)cCc>cTc	p.P402L	RINL_ENST00000598904.1_Missense_Mutation_p.P288L|RINL_ENST00000340740.3_Missense_Mutation_p.P288L|RINL_ENST00000602238.1_5'Flank|CTC-360G5.6_ENST00000593830.1_RNA			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	1	0		20	20	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	
ZNF814	730051	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	58385748	58385748	+	Missense_Mutation	SNP	G	G	A	rs145250945		TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr19:58385748G>A	ENST00000435989.2	-	3	1244	c.1010C>T	c.(1009-1011)gCt>gTt	p.A337V	ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	337					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)	p.A337V(2)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ACTGAAGCTAGCATATTTGCT	0.353																																					p.A337V		.											.	.	2	Substitution - Missense(2)	prostate(2)	c.C1010T						.						58.0	51.0	53.0					19																	58385748		692	1591	2283	SO:0001583	missense	730051	exon3			AAGCTAGCATATT		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.1010C>T	19.37:g.58385748G>A	ENSP00000410545:p.Ala337Val	93	0		97	31	NM_001144989	0	0	1	1	0	A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	3.777	-0.046344	0.07407	.	.	ENSG00000204514	ENST00000435989	T	0.15372	2.43	2.11	-4.21	0.03812	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07728	0.0194	N	0.21142	0.635	0.09310	N	1	B	0.32781	0.384	B	0.18561	0.022	T	0.05649	-1.0872	9	0.66056	D	0.02	.	3.5015	0.07674	0.0936:0.1206:0.3016:0.4843	.	337	B7Z6K7	ZN814_HUMAN	V	337	ENSP00000410545:A337V	ENSP00000410545:A337V	A	-	2	0	ZNF814	63077560	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-2.230000	0.01207	-3.525000	0.00147	-3.867000	0.00017	GCT	.		0.353	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708	
ZNF814	730051	broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	58385762	58385762	+	Silent	SNP	C	C	G	rs199732634		TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr19:58385762C>G	ENST00000435989.2	-	3	1230	c.996G>C	c.(994-996)tcG>tcC	p.S332S	ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	332					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)	p.S332S(2)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ATTTGCTAAACGATTTCCCAC	0.358																																					p.S332S		.											.	.	2	Substitution - coding silent(2)	kidney(2)	c.G996C						.						25.0	25.0	25.0					19																	58385762		692	1589	2281	SO:0001819	synonymous_variant	730051	exon3			GCTAAACGATTTC		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.996G>C	19.37:g.58385762C>G		83	0		79	19	NM_001144989	0	0	0	0	0	A6NF35	Silent	SNP	ENST00000435989.2	37	CCDS46212.1																																																																																			.		0.358	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708	
GEN1	348654	hgsc.bcm.edu	37	2	17942677	17942677	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr2:17942677G>T	ENST00000381254.2	+	3	390	c.176G>T	c.(175-177)cGt>cTt	p.R59L	SMC6_ENST00000402989.1_Intron|GEN1_ENST00000317402.7_Missense_Mutation_p.R59L	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	59	N-domain.				DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|regulation of centrosome duplication (GO:0010824)|resolution of mitotic recombination intermediates (GO:0071140)|resolution of recombination intermediates (GO:0071139)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	crossover junction endodeoxyribonuclease activity (GO:0008821)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TTATTTTTTCGTATCTCATAT	0.308								Homologous recombination																													p.R59L		.											.	GEN1-359	0			c.G176T						.						43.0	45.0	44.0					2																	17942677		2203	4300	6503	SO:0001583	missense	348654	exon3			TTTTTCGTATCTC	AK098188	CCDS1691.1	2p24.2	2013-06-04	2013-06-04		ENSG00000178295	ENSG00000178295			26881	protein-coding gene	gene with protein product	"""Holliday junction resolvase"""	612449	"""Gen endonuclease homolog 1 (Drosophila)"""			15576351	Standard	NM_182625		Approved	FLJ40869, Gen	uc002rct.2	Q17RS7	OTTHUMG00000121173	ENST00000381254.2:c.176G>T	2.37:g.17942677G>T	ENSP00000370653:p.Arg59Leu	115	0		72	5	NM_182625	0	0	1	1	0	Q17RS9|Q6ZN37	Missense_Mutation	SNP	ENST00000381254.2	37	CCDS1691.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.382886	0.82792	.	.	ENSG00000178295	ENST00000317402;ENST00000381254;ENST00000524465;ENST00000532257	T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46	5.35	4.47	0.54385	XPG N-terminal (2);	0.000000	0.64402	D	0.000005	D	0.86977	0.6063	H	0.95850	3.73	0.52099	D	0.999944	D	0.89917	1.0	D	0.97110	1.0	D	0.91072	0.4893	10	0.87932	D	0	-20.2561	14.3472	0.66675	0.0711:0.0:0.9289:0.0	.	59	Q17RS7	GEN_HUMAN	L	59	ENSP00000318977:R59L;ENSP00000370653:R59L;ENSP00000435143:R59L;ENSP00000433180:R59L	ENSP00000318977:R59L	R	+	2	0	GEN1	17806158	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.912000	0.92726	1.488000	0.48433	0.655000	0.94253	CGT	.		0.308	GEN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241661.2	NM_182625	
PSD4	23550	bcgsc.ca	37	2	113956371	113956371	+	Silent	SNP	G	G	C	rs2276561	byFrequency	TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr2:113956371G>C	ENST00000245796.6	+	15	2874	c.2679G>C	c.(2677-2679)acG>acC	p.T893T	PSD4_ENST00000441564.3_Silent_p.T864T	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	893					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTGCGGCCACGCACTCCGCGC	0.706													G|||	2211	0.441494	0.1838	0.5288	5008	,	,		10664	0.6498		0.4692	False		,,,				2504	0.4847				p.T893T		.											.	PSD4-229	0			c.G2679C						.	G		931,3401		105,721,1340	22.0	19.0	20.0		2679	-4.7	0.9	2	dbSNP_100	20	3876,4582		947,1982,1300	no	coding-synonymous	PSD4	NM_012455.2		1052,2703,2640	CC,CG,GG		45.8264,21.4912,37.5841		893/1057	113956371	4807,7983	2166	4229	6395	SO:0001819	synonymous_variant	23550	exon15			GGCCACGCACTCC	U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"""Pleckstrin homology (PH) domain containing"""	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.2679G>C	2.37:g.113956371G>C		14	1		34	29	NM_012455	0	0	0	22	22	A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Silent	SNP	ENST00000245796.6	37	CCDS33276.1																																																																																			G|0.570;C|0.430		0.706	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330789.1	NM_012455	
BAZ2B	29994	broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	160245862	160245862	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr2:160245862G>T	ENST00000392783.2	-	21	3705	c.3210C>A	c.(3208-3210)gaC>gaA	p.D1070E	BAZ2B_ENST00000355831.2_Missense_Mutation_p.D1036E|AC008277.1_ENST00000420020.1_RNA|BAZ2B_ENST00000392782.1_Missense_Mutation_p.D1034E|BAZ2B_ENST00000343439.5_Missense_Mutation_p.D970E	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1070					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TTACCTTTTGGTCTGCTAAGC	0.343																																					p.D1070E		.											.	BAZ2B-94	0			c.C3210A						.						241.0	218.0	225.0					2																	160245862		1848	4102	5950	SO:0001583	missense	29994	exon21			CTTTTGGTCTGCT	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.3210C>A	2.37:g.160245862G>T	ENSP00000376534:p.Asp1070Glu	64	0		54	5	NM_013450	0	0	0	0	0	D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	CCDS2209.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.04|17.04	3.286368|3.286368	0.59867|0.59867	.|.	.|.	ENSG00000123636|ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439|ENST00000294905	T;T;T;T|.	0.67171|.	1.71;1.71;1.71;-0.25|.	5.43|5.43	3.29|3.29	0.37713|0.37713	.|.	0.000000|.	0.38663|.	U|.	0.001616|.	T|T	0.53433|0.53433	0.1796|0.1796	L|L	0.35542|0.35542	1.07|1.07	0.42889|0.42889	D|D	0.994193|0.994193	P;D|.	0.89917|.	0.884;1.0|.	P;D|.	0.83275|.	0.636;0.996|.	T|T	0.50329|0.50329	-0.8841|-0.8841	10|5	0.56958|.	D|.	0.05|.	-10.5047|-10.5047	12.9389|12.9389	0.58331|0.58331	0.1552:0.0:0.8448:0.0|0.1552:0.0:0.8448:0.0	.|.	1034;1070|.	Q9UIF8-5;Q9UIF8|.	.;BAZ2B_HUMAN|.	E|T	1034;1070;1036;970|131	ENSP00000376533:D1034E;ENSP00000376534:D1070E;ENSP00000348087:D1036E;ENSP00000339670:D970E|.	ENSP00000339670:D970E|.	D|P	-|-	3|1	2|0	BAZ2B|BAZ2B	159954108|159954108	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.954000|0.954000	0.61252|0.61252	2.210000|2.210000	0.42816|0.42816	1.304000|1.304000	0.44892|0.44892	0.591000|0.591000	0.81541|0.81541	GAC|CCA	.		0.343	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2		
GPR155	151556	bcgsc.ca	37	2	175300997	175300997	+	Silent	SNP	G	G	A	rs6757461	byFrequency	TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr2:175300997G>A	ENST00000392552.2	-	16	2698	c.2460C>T	c.(2458-2460)aaC>aaT	p.N820N	GPR155_ENST00000392551.2_Silent_p.N820N|GPR155_ENST00000459996.1_5'Flank|GPR155_ENST00000295500.4_Silent_p.N820N	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	820	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				cognition (GO:0050890)|intracellular signal transduction (GO:0035556)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						ATTCATACTCGTTGGTAATAT	0.463													G|||	1070	0.213658	0.0825	0.1974	5008	,	,		20403	0.2143		0.3827	False		,,,				2504	0.228				p.N820N		.											.	GPR155-91	0			c.C2460T						.	G	,	544,3862	247.2+/-255.5	37,470,1696	162.0	160.0	161.0		2460,2460	-2.2	0.9	2	dbSNP_116	161	2944,5656	459.0+/-364.8	521,1902,1877	no	coding-synonymous,coding-synonymous	GPR155	NM_001033045.2,NM_152529.5	,	558,2372,3573	AA,AG,GG		34.2326,12.3468,26.8184	,	820/871,820/871	175300997	3488,9518	2203	4300	6503	SO:0001819	synonymous_variant	151556	exon17			ATACTCGTTGGTA	AY255528	CCDS2259.1, CCDS74605.1	2q31.1	2012-04-10			ENSG00000163328	ENSG00000163328			22951	protein-coding gene	gene with protein product						12679517	Standard	NM_001033045		Approved	DEPDC3, DEP.7, FLJ31819, PGR22	uc002uiu.4	Q7Z3F1	OTTHUMG00000132336	ENST00000392552.2:c.2460C>T	2.37:g.175300997G>A		97	0		91	5	NM_001033045	0	0	8	8	0	B2RCI2|D3DPE2|Q4G0Y6|Q53SJ3|Q53TA8|Q69YG8|Q86SP9|Q8N261|Q8N639|Q8N8K3|Q96MV6	Silent	SNP	ENST00000392552.2	37	CCDS2259.1																																																																																			G|0.734;A|0.266		0.463	GPR155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255455.1	NM_152529	
ACTR5	79913	hgsc.bcm.edu	37	20	37377139	37377139	+	Silent	SNP	C	C	T	rs2254105	byFrequency	TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr20:37377139C>T	ENST00000243903.4	+	1	55	c.18C>T	c.(16-18)ttC>ttT	p.F6F		NM_024855.3	NP_079131.3	Q9H9F9	ARP5_HUMAN	ARP5 actin-related protein 5 homolog (yeast)	6					DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|UV-damage excision repair (GO:0070914)	cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)				kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12		Myeloproliferative disorder(115;0.00878)				CGAACGTGTTCCCGTTCCGCG	0.756													C|||	1227	0.245008	0.205	0.2334	5008	,	,		10427	0.2679		0.2565	False		,,,				2504	0.272				p.F6F		.											.	ACTR5-90	0			c.C18T						.						3.0	4.0	4.0					20																	37377139		1470	2633	4103	SO:0001819	synonymous_variant	79913	exon1			CGTGTTCCCGTTC	AK022847	CCDS13308.1	20q12	2011-07-06	2001-11-28		ENSG00000101442	ENSG00000101442		"""INO80 complex subunits"""	14671	protein-coding gene	gene with protein product	"""INO80 complex subunit M"""		"""ARP5 (actin-related protein 5, yeast) homolog"""			16230350	Standard	NM_024855		Approved	FLJ12785, Arp5, INO80M	uc002xjd.2	Q9H9F9	OTTHUMG00000032456	ENST00000243903.4:c.18C>T	20.37:g.37377139C>T		0	0		31	9	NM_024855	0	0	0	1	1	Q86WF7|Q8IUY5|Q8N724|Q9BRN0|Q9BVB7	Silent	SNP	ENST00000243903.4	37	CCDS13308.1																																																																																			C|0.769;T|0.231		0.756	ACTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079205.2	NM_024855	
CHEK2	11200	ucsc.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr22:29091840T>C	ENST00000405598.1	-	12	1308	c.1117A>G	c.(1117-1119)Aag>Gag	p.K373E	CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000544772.1_Missense_Mutation_p.K152E			O96017	CHK2_HUMAN	checkpoint kinase 2	373	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																													p.K416E		.	yes	Rec		familial breast cancer	22	22q12.1	11200	CHK2 checkpoint homolog (S. pombe)		E	.	CHEK2-1515	9	Substitution - Missense(9)	kidney(4)|prostate(2)|endometrium(1)|stomach(1)|central_nervous_system(1)	c.A1246G						.																																			SO:0001583	missense	11200	exon12			AAATCTTGGAGTG	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1117A>G	22.37:g.29091840T>C	ENSP00000386087:p.Lys373Glu	134	4		113	15	NM_001005735	0	0	5	5	0	A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	37	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	T	19.06	3.754336	0.69648	.	.	ENSG00000183765	ENST00000348295;ENST00000382578;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731	T;T;T;T;T;T;T;T;T	0.54071	0.9;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.9	5.89	5.89	0.94794	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.043710	0.85682	D	0.000000	T	0.56292	0.1975	N	0.11756	0.17	0.80722	D	1	D;D;D;D;D;D	0.76494	0.996;0.999;0.998;0.998;0.993;0.991	P;D;D;D;D;P	0.74674	0.905;0.984;0.943;0.969;0.923;0.896	T	0.64769	-0.6329	10	0.87932	D	0	-1.7726	15.4726	0.75453	0.0:0.0:0.0:1.0	.	282;152;373;344;373;416	O96017-4;Q9HBS5;A8JZZ5;O96017-12;O96017;O96017-9	.;.;.;.;CHK2_HUMAN;.	E	344;282;152;373;373;373;416;282;344	ENSP00000329012:K344E;ENSP00000372021:K282E;ENSP00000442458:K152E;ENSP00000329178:K373E;ENSP00000385747:K373E;ENSP00000386087:K373E;ENSP00000372023:K416E;ENSP00000384919:K282E;ENSP00000384835:K344E	ENSP00000329178:K373E	K	-	1	0	CHEK2	27421840	1.000000	0.71417	1.000000	0.80357	0.479000	0.33129	4.270000	0.58896	2.248000	0.74166	0.528000	0.53228	AAG	.		0.418	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735	
XPC	7508	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	14207051	14207051	+	Missense_Mutation	SNP	T	T	C			TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr3:14207051T>C	ENST00000285021.7	-	6	870	c.656A>G	c.(655-657)tAt>tGt	p.Y219C	XPC_ENST00000449060.2_Missense_Mutation_p.Y182C	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	219					DNA repair (GO:0006281)|intra-S DNA damage checkpoint (GO:0031573)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to drug (GO:0042493)|response to UV-B (GO:0010224)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|XPC complex (GO:0071942)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|heteroduplex DNA loop binding (GO:0000404)|single-stranded DNA binding (GO:0003697)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GTTATTTCGATAGAAGCCATT	0.532			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																												p.Y219C		.	yes	Rec		Xeroderma pigmentosum (C)	3	3p25	7508	"""xeroderma pigmentosum, complementation group C"""		E	.	XPC-662	0			c.A656G						.						60.0	59.0	59.0					3																	14207051		1993	4183	6176	SO:0001583	missense	7508	exon6	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	TTTCGATAGAAGC		CCDS46763.1	3p25.1	2014-09-17			ENSG00000154767	ENSG00000154767			12816	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group C protein"""	613208				1522891	Standard	NM_004628		Approved	XPCC, RAD4	uc011ave.2	Q01831	OTTHUMG00000155526	ENST00000285021.7:c.656A>G	3.37:g.14207051T>C	ENSP00000285021:p.Tyr219Cys	127	0		110	26	NM_004628	0	0	9	11	2	B4DIP3|E9PB96|E9PH69|Q53GT7|Q96AX0	Missense_Mutation	SNP	ENST00000285021.7	37	CCDS46763.1	.	.	.	.	.	.	.	.	.	.	T	12.13	1.844553	0.32606	.	.	ENSG00000154767	ENST00000285021;ENST00000449060	T;T	0.64991	-0.13;-0.13	5.42	2.68	0.31781	.	0.123056	0.56097	D	0.000025	T	0.73737	0.3625	M	0.68317	2.08	0.43010	D	0.994542	D;D	0.89917	0.999;1.0	D;D	0.69307	0.921;0.963	T	0.75772	-0.3200	10	0.62326	D	0.03	-11.0443	11.7254	0.51706	0.2466:0.0:0.0:0.7534	.	182;219	E9PH69;Q01831	.;XPC_HUMAN	C	219;182	ENSP00000285021:Y219C;ENSP00000404002:Y182C	ENSP00000285021:Y219C	Y	-	2	0	XPC	14182055	1.000000	0.71417	0.728000	0.30774	0.029000	0.11900	3.273000	0.51623	0.874000	0.35823	0.383000	0.25322	TAT	.		0.532	XPC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340517.3	NM_004628	
CRIPAK	285464	hgsc.bcm.edu	37	4	1388755	1388755	+	Silent	SNP	C	C	G	rs373946226	byFrequency	TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	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		13	0		117	47	NM_175918	0	0	10	23	13	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	
CRMP1	1400	hgsc.bcm.edu	37	4	5894586	5894586	+	Silent	SNP	G	G	A	rs143304363	byFrequency	TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr4:5894586G>A	ENST00000324989.7	-	1	199	c.111C>T	c.(109-111)gcC>gcT	p.A37A	CRMP1_ENST00000512574.1_5'Flank	NM_001014809.1	NP_001014809.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	0					axon guidance (GO:0007411)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|pyrimidine nucleobase catabolic process (GO:0006208)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		CCTCCACCGCGGCGAACATGC	0.756													G|||	277	0.0553115	0.0076	0.0461	5008	,	,		4031	0.0437		0.0805	False		,,,				2504	0.1125				p.A37A		.											.	CRMP1-92	0			c.C111T						.	G		56,3324		2,52,1636	4.0	4.0	4.0		111	0.2	1.0	4	dbSNP_134	4	409,6095		9,391,2852	no	coding-synonymous	CRMP1	NM_001014809.1		11,443,4488	AA,AG,GG		6.2884,1.6568,4.7046		37/687	5894586	465,9419	1690	3252	4942	SO:0001819	synonymous_variant	1400	exon1			CACCGCGGCGAAC	D78012	CCDS33950.1, CCDS43207.1, CCDS75102.1	4p16.1	2008-05-15			ENSG00000072832	ENSG00000072832			2365	protein-coding gene	gene with protein product		602462				8973361	Standard	XM_005247940		Approved	DRP-1, DPYSL1	uc003gis.3	Q14194	OTTHUMG00000125489	ENST00000324989.7:c.111C>T	4.37:g.5894586G>A		0	0		23	14	NM_001014809	0	0	0	0	0	A0EJG6|Q13024|Q4W5F1|Q96TC8	Silent	SNP	ENST00000324989.7	37	CCDS33950.1																																																																																			G|0.946;A|0.054		0.756	CRMP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000246814.2	NM_001313	
SOD3	6649	hgsc.bcm.edu	37	4	24801354	24801354	+	Silent	SNP	C	C	T	rs8192291	byFrequency	TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr4:24801354C>T	ENST00000382120.3	+	2	416	c.211C>T	c.(211-213)Ctg>Ttg	p.L71L		NM_003102.2	NP_003093.2	P08294	SODE_HUMAN	superoxide dismutase 3, extracellular	71					removal of superoxide radicals (GO:0019430)|response to copper ion (GO:0046688)|response to hypoxia (GO:0001666)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	copper ion binding (GO:0005507)|heparin binding (GO:0008201)|superoxide dismutase activity (GO:0004784)|zinc ion binding (GO:0008270)			prostate(1)|urinary_tract(1)	2		Breast(46;0.0503)				GTCGGCCACGCTGGACGCCGC	0.726													C|||	994	0.198482	0.0968	0.1585	5008	,	,		11823	0.3512		0.2028	False		,,,				2504	0.2025				p.L71L		.											.	SOD3-90	0			c.C211T						.	C		341,3293		12,317,1488	4.0	5.0	5.0		211	0.7	0.0	4	dbSNP_117	5	1103,6325		63,977,2674	no	coding-synonymous	SOD3	NM_003102.2		75,1294,4162	TT,TC,CC		14.8492,9.3836,13.0537		71/241	24801354	1444,9618	1817	3714	5531	SO:0001819	synonymous_variant	6649	exon2			GCCACGCTGGACG		CCDS3430.1	4p15.2	2012-09-20			ENSG00000109610	ENSG00000109610	1.15.1.1		11181	protein-coding gene	gene with protein product		185490					Standard	NM_003102		Approved	EC-SOD	uc003gqz.3	P08294	OTTHUMG00000128565	ENST00000382120.3:c.211C>T	4.37:g.24801354C>T		3	0		26	19	NM_003102	0	0	7	18	11	Q5U781|Q6FHA2	Silent	SNP	ENST00000382120.3	37	CCDS3430.1																																																																																			C|0.777;T|0.223		0.726	SOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250416.1		
NMU	10874	hgsc.bcm.edu	37	4	56502304	56502304	+	Missense_Mutation	SNP	G	G	T	rs35771241	byFrequency	TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr4:56502304G>T	ENST00000264218.3	-	1	161	c.56C>A	c.(55-57)gCg>gAg	p.A19E	NMU_ENST00000511469.1_Missense_Mutation_p.A19E|NMU_ENST00000515325.1_Intron|NMU_ENST00000505262.1_Missense_Mutation_p.A19E|NMU_ENST00000507338.1_Missense_Mutation_p.A19E	NM_006681.2	NP_006672.1	P48645	NMU_HUMAN	neuromedin U	19					digestion (GO:0007586)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric acid secretion (GO:0001696)|neuropeptide signaling pathway (GO:0007218)|photoperiodism (GO:0009648)|positive regulation of hormone secretion (GO:0046887)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of synaptic transmission (GO:0050806)|regulation of smooth muscle contraction (GO:0006940)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|terminal bouton (GO:0043195)	receptor binding (GO:0005102)			lung(3)|ovary(1)|urinary_tract(1)	5	Lung NSC(11;0.00256)|all_epithelial(27;0.075)|Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.103)	LUSC - Lung squamous cell carcinoma(4;6.72e-08)|Lung(4;6.22e-07)|Epithelial(7;0.00559)	LUSC - Lung squamous cell carcinoma(721;0.0115)		gagcGGGGACGCCGCGGCCAC	0.761													G|||	88	0.0175719	0.0038	0.0245	5008	,	,		10083	0.0		0.0577	False		,,,				2504	0.0082				p.A19E		.											.	NMU-650	0			c.C56A	GRCh37	CM066152	NMU	M	rs35771241	.	G	GLU/ALA	34,3224		0,34,1595	5.0	7.0	6.0		56	1.1	0.0	4	dbSNP_126	6	262,5824		1,260,2782	no	missense	NMU	NM_006681.2	107	1,294,4377	TT,TG,GG		4.305,1.0436,3.1678	benign	19/175	56502304	296,9048	1629	3043	4672	SO:0001583	missense	10874	exon1			GGGGACGCCGCGG	X76029	CCDS3501.1, CCDS75125.1	4q12	2013-02-26			ENSG00000109255	ENSG00000109255		"""Endogenous ligands"""	7859	protein-coding gene	gene with protein product	"""prepro-NMU"""	605103				7619205	Standard	XM_005265713		Approved		uc003hbc.3	P48645	OTTHUMG00000102161	ENST00000264218.3:c.56C>A	4.37:g.56502304G>T	ENSP00000264218:p.Ala19Glu	0	0		18	13	NM_006681	0	0	0	1	1		Missense_Mutation	SNP	ENST00000264218.3	37	CCDS3501.1	64	0.029304029304029304	6	0.012195121951219513	16	0.04419889502762431	0	0.0	42	0.055408970976253295	G	14.57	2.576146	0.45902	0.010436	0.04305	ENSG00000109255	ENST00000511469;ENST00000264218;ENST00000505262;ENST00000541393;ENST00000507338	T;T;T;T	0.38887	1.11;1.25;1.19;1.18	2.89	1.06	0.20224	.	0.337479	0.19087	U	0.123078	T	0.03959	0.0111	L	0.44542	1.39	0.09310	N	1	D	0.54397	0.966	P	0.45195	0.473	T	0.03784	-1.1004	10	0.52906	T	0.07	-8.0688	3.8411	0.08914	0.1476:0.2562:0.5962:0.0	rs35771241	19	P48645	NMU_HUMAN	E	19	ENSP00000422399:A19E;ENSP00000264218:A19E;ENSP00000424246:A19E;ENSP00000422870:A19E	ENSP00000264218:A19E	A	-	2	0	NMU	56197061	0.000000	0.05858	0.001000	0.08648	0.273000	0.26683	-0.032000	0.12266	0.255000	0.21593	0.195000	0.17529	GCG	G|0.970;T|0.030		0.761	NMU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220006.2		
MTHFD2L	441024	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	75065574	75065574	+	Missense_Mutation	SNP	A	A	G			TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr4:75065574A>G	ENST00000395759.2	+	4	542	c.515A>G	c.(514-516)cAt>cGt	p.H172R	MTHFD2L_ENST00000331145.6_Missense_Mutation_p.H114R|MTHFD2L_ENST00000325278.6_Missense_Mutation_p.H114R|MTHFD2L_ENST00000433372.1_Missense_Mutation_p.H37R	NM_001144978.1	NP_001138450.1	Q9H903	MTD2L_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like	172					folic acid-containing compound biosynthetic process (GO:0009396)|histidine biosynthetic process (GO:0000105)|methionine biosynthetic process (GO:0009086)|one-carbon metabolic process (GO:0006730)|purine nucleotide biosynthetic process (GO:0006164)|tetrahydrofolate interconversion (GO:0035999)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NAD+) activity (GO:0004487)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)			central_nervous_system(1)|endometrium(1)|lung(4)|ovary(2)	8			all cancers(17;0.0101)|Lung(101;0.196)			GATGGATTTCATATTATCAAT	0.338																																					p.H172R		.											.	MTHFD2L-91	0			c.A515G						.						95.0	100.0	98.0					4																	75065574		2203	4300	6503	SO:0001583	missense	441024	exon4			GATTTCATATTAT	BC065771	CCDS47075.1	4q13.3	2011-08-03			ENSG00000163738	ENSG00000163738			31865	protein-coding gene	gene with protein product		614047				21163947	Standard	NM_001144978		Approved	MGC72244	uc011cbk.2	Q9H903	OTTHUMG00000157135	ENST00000395759.2:c.515A>G	4.37:g.75065574A>G	ENSP00000379108:p.His172Arg	59	0		93	34	NM_001144978	0	0	2	8	6	Q6P079|Q8N560	Missense_Mutation	SNP	ENST00000395759.2	37	CCDS47075.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.053932	0.75960	.	.	ENSG00000163738	ENST00000433372;ENST00000395759;ENST00000331145;ENST00000359107;ENST00000325278	T;T;T;T;T	0.59502	0.26;0.26;0.26;0.26;0.26	5.2	5.2	0.72013	Tetrahydrofolate dehydrogenase/cyclohydrolase, NAD(P)-binding domain (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.82518	0.5054	H	0.96547	3.84	0.53005	D	0.999968	D;D	0.89917	1.0;0.997	D;D	0.79784	0.993;0.965	D	0.87707	0.2564	10	0.87932	D	0	.	13.0667	0.59038	1.0:0.0:0.0:0.0	.	172;114	Q9H903;Q9H903-3	MTD2L_HUMAN;.	R	37;172;114;114;114	ENSP00000405692:H37R;ENSP00000379108:H172R;ENSP00000330982:H114R;ENSP00000352012:H114R;ENSP00000321984:H114R	ENSP00000321984:H114R	H	+	2	0	MTHFD2L	75284438	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	6.773000	0.75006	2.180000	0.69256	0.533000	0.62120	CAT	.		0.338	MTHFD2L-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001004346	
WDFY3	23001	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	85594085	85594085	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr4:85594085C>T	ENST00000295888.4	-	68	10924	c.10517G>A	c.(10516-10518)tGt>tAt	p.C3506Y	WDFY3_ENST00000322366.6_Missense_Mutation_p.C3489Y	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	3506	Interaction with ATG5.|Interaction with SQSTM1.				aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		ACAGTTCTGACAAACACGCAC	0.413																																					p.C3506Y		.											.	WDFY3-93	0			c.G10517A						.						109.0	107.0	108.0					4																	85594085		2203	4300	6503	SO:0001583	missense	23001	exon68			TTCTGACAAACAC	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.10517G>A	4.37:g.85594085C>T	ENSP00000295888:p.Cys3506Tyr	66	0		99	50	NM_014991	0	0	14	23	9	Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.292145	0.80914	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	D;D	0.96885	-4.16;-4.16	5.75	5.75	0.90469	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.99208	0.9725	H	0.99659	4.685	0.80722	D	1	D	0.62365	0.991	D	0.79784	0.993	D	0.98523	1.0624	10	0.87932	D	0	.	19.9564	0.97221	0.0:1.0:0.0:0.0	.	3506	Q8IZQ1	WDFY3_HUMAN	Y	3489;3506	ENSP00000318466:C3489Y;ENSP00000295888:C3506Y	ENSP00000295888:C3506Y	C	-	2	0	WDFY3	85813109	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	7.142000	0.77339	2.708000	0.92522	0.650000	0.86243	TGT	.		0.413	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991	
TRAM1L1	133022	broad.mit.edu;bcgsc.ca	37	4	118005441	118005441	+	Nonstop_Mutation	SNP	T	T	A			TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr4:118005441T>A	ENST00000310754.4	-	1	1295	c.1109A>T	c.(1108-1110)tAa>tTa	p.*370L		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	0					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						TTGCAAAGATTATGAAGATTT	0.383																																					p.X370L		.											.	TRAM1L1-90	0			c.A1109T						.						119.0	123.0	122.0					4																	118005441		2202	4300	6502	SO:0001578	stop_lost	133022	exon1			AAAGATTATGAAG	AK074617	CCDS3707.1	4q26	2008-02-05			ENSG00000174599	ENSG00000174599			28371	protein-coding gene	gene with protein product						12477932	Standard	NM_152402		Approved	MGC26568	uc003ibv.4	Q8N609	OTTHUMG00000132956	ENST00000310754.4:c.1109A>T	4.37:g.118005441T>A		52	1		49	18	NM_152402	0	0	0	2	2	Q8N2L7	Missense_Mutation	SNP	ENST00000310754.4	37	CCDS3707.1	.	.	.	.	.	.	.	.	.	.	T	6.457	0.452404	0.12283	.	.	ENSG00000174599	ENST00000310754	.	.	.	3.74	1.21	0.21127	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.0307	0.24965	0.0:0.2047:0.0:0.7953	.	.	.	.	L	370	.	.	X	-	2	2	TRAM1L1	118224889	0.968000	0.33430	0.000000	0.03702	0.205000	0.24178	0.477000	0.22196	0.268000	0.21939	-0.263000	0.10527	TAA	.		0.383	TRAM1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256513.1	NM_152402	
CLPTM1L	81037	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	1334422	1334422	+	Missense_Mutation	SNP	G	G	C			TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr5:1334422G>C	ENST00000320895.5	-	7	1130	c.873C>G	c.(871-873)ttC>ttG	p.F291L	CLPTM1L_ENST00000507807.1_Missense_Mutation_p.F158L|CLPTM1L_ENST00000320927.6_Missense_Mutation_p.F291L	NM_030782.3	NP_110409.2	Q96KA5	CLP1L_HUMAN	CLPTM1-like	291					apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		CTGCGACAAAGAAGGTCAGCG	0.542																																					p.F291L		.											.	CLPTM1L-153	0			c.C873G						.						89.0	95.0	93.0					5																	1334422		2203	4300	6503	SO:0001583	missense	81037	exon7			GACAAAGAAGGTC	AK027306	CCDS3862.1	5p15.33	2008-02-05			ENSG00000049656	ENSG00000049656			24308	protein-coding gene	gene with protein product	"""cisplatin resistance related protein"""	612585				11162647	Standard	NM_030782		Approved	FLJ14400, CRR9	uc003jch.3	Q96KA5	OTTHUMG00000131015	ENST00000320895.5:c.873C>G	5.37:g.1334422G>C	ENSP00000313854:p.Phe291Leu	60	0		62	14	NM_030782	0	0	32	32	0	D3DTC1|Q658W6|Q7LG29|Q96AZ0|Q9H3N4	Missense_Mutation	SNP	ENST00000320895.5	37	CCDS3862.1	.	.	.	.	.	.	.	.	.	.	g	8.155	0.788167	0.16258	.	.	ENSG00000049656	ENST00000320895;ENST00000507807;ENST00000320927	T;T;T	0.42131	1.02;1.01;0.98	4.38	2.57	0.30868	.	0.093822	0.85682	D	0.000000	T	0.31638	0.0803	L	0.37507	1.11	0.53005	D	0.999965	P;P	0.40211	0.707;0.698	B;B	0.43123	0.409;0.158	T	0.03608	-1.1020	10	0.17369	T	0.5	-27.699	7.6285	0.28226	0.2598:0.0:0.7402:0.0	.	291;158	Q96KA5;G5E9Z2	CLP1L_HUMAN;.	L	291;158;291	ENSP00000313854:F291L;ENSP00000423321:F158L;ENSP00000315196:F291L	ENSP00000313854:F291L	F	-	3	2	CLPTM1L	1387422	1.000000	0.71417	0.994000	0.49952	0.169000	0.22640	1.514000	0.35834	0.287000	0.22375	0.556000	0.70494	TTC	.		0.542	CLPTM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253649.2	NM_030782	
SLC45A2	51151	ucsc.edu;mdanderson.org	37	5	33954511	33954511	+	Silent	SNP	C	C	A	rs387906317|rs2287949	byFrequency	TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr5:33954511C>A	ENST00000296589.4	-	4	1133	c.987G>T	c.(985-987)acG>acT	p.T329T	SLC45A2_ENST00000509381.1_Missense_Mutation_p.G221C|SLC45A2_ENST00000342059.3_Silent_p.T270T|SLC45A2_ENST00000345083.5_Silent_p.T221T|SLC45A2_ENST00000382102.3_Silent_p.T329T	NM_016180.3	NP_057264	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	329					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						ACAGGAAGGCTGTCCATCCAA	0.483																																					p.T329T	Ovarian(31;380 859 8490 22203 49048)	.											.	SLC45A2-93	0			c.A987T						.						190.0	138.0	156.0					5																	33954511		2203	4300	6503	SO:0001819	synonymous_variant	51151	exon4			GAAGGCTGTCCAT	AF172849	CCDS3901.1, CCDS43308.1, CCDS75232.1	5p13.3	2013-08-06	2005-10-06	2005-10-06	ENSG00000164175	ENSG00000164175		"""Solute carriers"""	16472	protein-coding gene	gene with protein product		606202	"""membrane associated transporter"""	MATP		11916009, 11574907	Standard	NM_001012509		Approved	AIM-1, OCA4	uc003jid.3	Q9UMX9	OTTHUMG00000090719	ENST00000296589.4:c.987G>T	5.37:g.33954511C>A		223	1		390	83	NM_016180	0	0	0	0	0	Q6P2P0|Q9BTM3	Silent	SNP	ENST00000296589.4	37	CCDS3901.1																																																																																			C|0.922;T|0.078		0.483	SLC45A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207443.2	NM_016180	
PSD2	84249	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	139197105	139197105	+	Silent	SNP	T	T	C			TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr5:139197105T>C	ENST00000274710.3	+	5	1261	c.1056T>C	c.(1054-1056)agT>agC	p.S352S		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	352	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTACCTCAGTTTCTTCGACT	0.567																																					p.S352S		.											.	PSD2-91	0			c.T1056C						.						97.0	89.0	92.0					5																	139197105		2203	4300	6503	SO:0001819	synonymous_variant	84249	exon5			CCTCAGTTTCTTC	AL136559	CCDS4216.1	5q31.3	2013-01-10			ENSG00000146005	ENSG00000146005		"""Pleckstrin homology (PH) domain containing"""	19092	protein-coding gene	gene with protein product							Standard	NM_032289		Approved	DKFZp761B0514	uc003leu.1	Q9BQI7	OTTHUMG00000129240	ENST00000274710.3:c.1056T>C	5.37:g.139197105T>C		66	0		140	33	NM_032289	0	0	0	0	0	D3DQD3|Q8N3J8	Silent	SNP	ENST00000274710.3	37	CCDS4216.1																																																																																			.		0.567	PSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251339.1	NM_032289	
PCDHB4	56131	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	5	140503194	140503194	+	Silent	SNP	G	G	A			TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr5:140503194G>A	ENST00000194152.1	+	1	1614	c.1614G>A	c.(1612-1614)ccG>ccA	p.P538P	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	538	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCGGTTCTCCGGCTTTGAGCA	0.667																																					p.P538P		.											.	PCDHB4-93	0			c.G1614A						.						46.0	53.0	51.0					5																	140503194		2202	4297	6499	SO:0001819	synonymous_variant	56131	exon1			TTCTCCGGCTTTG	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"""Cadherins / Protocadherins : Clustered"""	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.1614G>A	5.37:g.140503194G>A		173	0		664	59	NM_018938	0	0	0	0	0	Q4V761	Silent	SNP	ENST00000194152.1	37	CCDS4246.1																																																																																			.		0.667	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938	
SLC6A7	6534	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	149589012	149589012	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr5:149589012C>T	ENST00000230671.2	+	14	2116	c.1745C>T	c.(1744-1746)tCg>tTg	p.S582L	SLC6A7_ENST00000524041.1_Missense_Mutation_p.S582L	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	582					proline transport (GO:0015824)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	TGGGGACCATCGCTGGAGGAG	0.632																																					p.S582L		.											.	SLC6A7-90	0			c.C1745T						.						53.0	56.0	55.0					5																	149589012		2203	4300	6503	SO:0001583	missense	6534	exon14			GACCATCGCTGGA	S80071	CCDS4305.1	5q32	2013-07-19	2013-07-19		ENSG00000011083	ENSG00000011083		"""Solute carriers"""	11054	protein-coding gene	gene with protein product	"""brain-specific L-proline transporter"", ""sodium-dependent proline transporter"""	606205	"""solute carrier family 6 (neurotransmitter transporter, L-proline), member 7"""			7651355	Standard	NM_014228		Approved	PROT	uc003lrr.3	Q99884	OTTHUMG00000130046	ENST00000230671.2:c.1745C>T	5.37:g.149589012C>T	ENSP00000230671:p.Ser582Leu	293	1		462	209	NM_014228	0	0	0	0	0	Q0VG81|Q52LU6	Missense_Mutation	SNP	ENST00000230671.2	37	CCDS4305.1	.	.	.	.	.	.	.	.	.	.	C	12.15	1.852875	0.32699	.	.	ENSG00000011083	ENST00000230671;ENST00000524041	T;T	0.73363	-0.74;-0.74	5.15	5.15	0.70609	.	0.348813	0.27284	N	0.020074	T	0.58466	0.2124	N	0.24115	0.695	0.40901	D	0.984152	P	0.35456	0.502	B	0.22152	0.038	T	0.59445	-0.7453	10	0.18710	T	0.47	.	18.6484	0.91419	0.0:1.0:0.0:0.0	.	582	Q99884	SC6A7_HUMAN	L	582	ENSP00000230671:S582L;ENSP00000428200:S582L	ENSP00000230671:S582L	S	+	2	0	SLC6A7	149569205	0.974000	0.33945	0.558000	0.28319	0.700000	0.40528	4.408000	0.59761	2.409000	0.81822	0.561000	0.74099	TCG	.		0.632	SLC6A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252325.1	NM_014228	
STC2	8614	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	172745041	172745041	+	Missense_Mutation	SNP	C	C	T	rs375944211		TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr5:172745041C>T	ENST00000265087.4	-	4	2027	c.718G>A	c.(718-720)Ggg>Agg	p.G240R	STC2_ENST00000520593.1_5'Flank	NM_003714.2	NP_003705.1	O76061	STC2_HUMAN	stanniocalcin 2	240					cellular calcium ion homeostasis (GO:0006874)|cellular response to hypoxia (GO:0071456)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of gene expression (GO:0010629)|negative regulation of multicellular organism growth (GO:0040015)|regulation of hormone biosynthetic process (GO:0046885)|regulation of store-operated calcium entry (GO:2001256)|response to oxidative stress (GO:0006979)|response to peptide hormone (GO:0043434)|response to vitamin D (GO:0033280)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|protein homodimerization activity (GO:0042803)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CCTGCTTCCCCGTGGTGGGCC	0.667																																					p.G240R		.											.	STC2-93	0			c.G718A						.						63.0	63.0	63.0					5																	172745041		2203	4300	6503	SO:0001583	missense	8614	exon4			CTTCCCCGTGGTG	AB012664	CCDS4388.1	5q35.2	2004-05-17			ENSG00000113739	ENSG00000113739			11374	protein-coding gene	gene with protein product		603665				9723890, 9753616	Standard	NM_003714		Approved	STC-2	uc003mco.1	O76061	OTTHUMG00000130542	ENST00000265087.4:c.718G>A	5.37:g.172745041C>T	ENSP00000265087:p.Gly240Arg	66	0		102	20	NM_003714	0	0	1	2	1		Missense_Mutation	SNP	ENST00000265087.4	37	CCDS4388.1	.	.	.	.	.	.	.	.	.	.	C	3.340	-0.134861	0.06711	.	.	ENSG00000113739	ENST00000265087	.	.	.	5.4	2.6	0.31112	.	0.399227	0.30820	N	0.008814	T	0.14874	0.0359	N	0.12182	0.205	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.22103	-1.0226	9	0.12766	T	0.61	-13.6042	3.1633	0.06527	0.1404:0.5636:0.1444:0.1515	.	240	O76061	STC2_HUMAN	R	240	.	ENSP00000265087:G240R	G	-	1	0	STC2	172677647	0.052000	0.20516	0.000000	0.03702	0.064000	0.16182	1.888000	0.39708	0.232000	0.21100	-0.158000	0.13435	GGG	.		0.667	STC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252965.1	NM_003714	
TBC1D9B	23061	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	179290951	179290951	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr5:179290951C>T	ENST00000356834.3	-	22	3287	c.3250G>A	c.(3250-3252)Gac>Aac	p.D1084N	TBC1D9B_ENST00000518085.1_5'UTR|TBC1D9B_ENST00000444477.2_Missense_Mutation_p.D225N|TBC1D9B_ENST00000355235.3_Missense_Mutation_p.D1067N|TBC1D9B_ENST00000519746.1_Missense_Mutation_p.D243N	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	1084						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGTGGCTCGTCCTCCTCAGTG	0.657																																					p.D1084N		.											.	TBC1D9B-154	0			c.G3250A						.						79.0	65.0	70.0					5																	179290951		2203	4300	6503	SO:0001583	missense	23061	exon22			GCTCGTCCTCCTC	AB014576	CCDS4450.1, CCDS43408.1	5q35.3	2013-01-10			ENSG00000197226	ENSG00000197226		"""EF-hand domain containing"""	29097	protein-coding gene	gene with protein product						9734811	Standard	NM_198868		Approved	KIAA0676	uc003mlh.3	Q66K14	OTTHUMG00000130911	ENST00000356834.3:c.3250G>A	5.37:g.179290951C>T	ENSP00000349291:p.Asp1084Asn	62	0		101	26	NM_198868	0	0	164	224	60	D3DWQ5|D3DWQ6|O75163|Q53EY0|Q6MZI2|Q96H49	Missense_Mutation	SNP	ENST00000356834.3	37	CCDS43408.1	.	.	.	.	.	.	.	.	.	.	C	9.286	1.049304	0.19827	.	.	ENSG00000197226	ENST00000356834;ENST00000355235;ENST00000519746;ENST00000444477;ENST00000544438	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	5.46	3.51	0.40186	.	0.382525	0.22191	N	0.063374	T	0.40196	0.1107	L	0.57536	1.79	0.09310	N	1	B;B;B;B;P	0.37276	0.01;0.01;0.0;0.21;0.589	B;B;B;B;B	0.39027	0.024;0.053;0.001;0.135;0.288	T	0.21621	-1.0240	10	0.20046	T	0.44	-8.8218	13.7257	0.62756	0.0:0.7061:0.2939:0.0	.	1066;1067;1084;283;158	A1L3A9;Q66K14-2;Q66K14;B3KM54;F5H5B8	.;.;TBC9B_HUMAN;.;.	N	1084;1067;243;225;158	ENSP00000349291:D1084N;ENSP00000347375:D1067N;ENSP00000430293:D243N;ENSP00000401585:D225N	ENSP00000347375:D1067N	D	-	1	0	TBC1D9B	179223557	0.279000	0.24239	0.024000	0.17045	0.289000	0.27227	2.245000	0.43133	1.244000	0.43870	0.462000	0.41574	GAC	.		0.657	TBC1D9B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253501.3	NM_015043	
ATXN1	6310	broad.mit.edu	37	6	16327913	16327915	+	In_Frame_Del	DEL	TGA	TGA	-	rs11969612|rs369629396	byFrequency	TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr6:16327913_16327915delTGA	ENST00000244769.4	-	8	1563_1565	c.627_629delTCA	c.(625-630)catcag>cag	p.H209del	ATXN1_ENST00000436367.1_In_Frame_Del_p.H209del	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	209	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)				ctgctgatgctgatgctgctgct	0.665																																					p.209_210del		.											.	ATXN1-93	3	Deletion - In frame(3)	upper_aerodigestive_tract(1)|large_intestine(1)|prostate(1)	c.627_629del						.		,|,	615,313,2022|637,2259		169,39,238,43,188,798|112,413,923					,|,		0.0|0.0		dbSNP_130	7|7	1006,693,4879|752,5866		252,19,483,15,644,1876|24,704,2581	no|no	codingComplex,codingComplex|coding,coding	ATXN1|ATXN1	NM_001128164.1,NM_000332.3|NM_001128164.1,NM_000332.3	,|,	421,58,721,58,832,2674|136,1117,3504	A1A1,A1A2,A1R,A2A2,A2R,RR|A1A1,A1R,RR		25.8285,31.4576,27.5714|11.3629,21.9959,14.5995	,|,	,|,		1621,1006,6901|1389,8125				SO:0001651	inframe_deletion	6310	exon7			TGATGCTGATGCT	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.627_629delTCA	6.37:g.16327913_16327915delTGA	ENSP00000244769:p.His209del	25	0		25	8	NM_001128164	0	0	0	0	0	Q17S02|Q9UJG2|Q9Y4J1	In_Frame_Del	DEL	ENST00000244769.4	37	CCDS34342.1																																																																																			.		0.665	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332	
GCM1	8521	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	52999074	52999074	+	Missense_Mutation	SNP	T	T	G			TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr6:52999074T>G	ENST00000259803.7	-	3	335	c.124A>C	c.(124-126)Aaa>Caa	p.K42Q		NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	42					anatomical structure morphogenesis (GO:0009653)|astrocyte fate commitment (GO:0060018)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cell differentiation involved in embryonic placenta development (GO:0060706)|positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					TAGATGTGTTTGGCATAGGAA	0.488																																					p.K42Q		.											.	GCM1-90	0			c.A124C						.						117.0	109.0	112.0					6																	52999074		2203	4300	6503	SO:0001583	missense	8521	exon3			TGTGTTTGGCATA	D88613	CCDS4950.1	6p21-p12	2008-08-29	2001-11-28	2002-09-27	ENSG00000137270	ENSG00000137270			4197	protein-coding gene	gene with protein product		603715	"""glial cells missing (Drosophila) homolog a"""	GCMA		8962155	Standard	NM_003643		Approved	hGCMa	uc003pbp.3	Q9NP62	OTTHUMG00000014871	ENST00000259803.7:c.124A>C	6.37:g.52999074T>G	ENSP00000259803:p.Lys42Gln	192	1		151	131	NM_003643	0	0	0	0	0	Q4VAQ7|Q5T0X0|Q99468|Q9P1X3	Missense_Mutation	SNP	ENST00000259803.7	37	CCDS4950.1	.	.	.	.	.	.	.	.	.	.	T	16.14	3.039870	0.55003	.	.	ENSG00000137270	ENST00000259803	T	0.74842	-0.88	4.84	4.84	0.62591	.	0.000000	0.64402	D	0.000005	T	0.75824	0.3902	L	0.40543	1.245	0.51482	D	0.999929	D	0.76494	0.999	D	0.72075	0.976	T	0.79694	-0.1696	10	0.66056	D	0.02	-0.167	14.5861	0.68326	0.0:0.0:0.0:1.0	.	42	Q9NP62	GCM1_HUMAN	Q	42	ENSP00000259803:K42Q	ENSP00000259803:K42Q	K	-	1	0	GCM1	53107033	1.000000	0.71417	0.906000	0.35671	0.181000	0.23173	4.383000	0.59600	2.016000	0.59253	0.533000	0.62120	AAA	.		0.488	GCM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040953.1		
OGFRL1	79627	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	6	72006483	72006483	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr6:72006483G>T	ENST00000370435.4	+	6	789	c.655G>T	c.(655-657)Gct>Tct	p.A219S	RP11-154D6.1_ENST00000588612.1_RNA|RP11-154D6.1_ENST00000586232.1_RNA|RP11-154D6.1_ENST00000586030.1_RNA|RP3-331H24.5_ENST00000602823.1_lincRNA|RP11-154D6.1_ENST00000587253.1_RNA|RP11-154D6.1_ENST00000423255.1_RNA|RP11-154D6.1_ENST00000432050.1_RNA|RP11-154D6.1_ENST00000591156.1_RNA|RP11-154D6.1_ENST00000412751.1_RNA	NM_024576.3	NP_078852.3	Q5TC84	OGRL1_HUMAN	opioid growth factor receptor-like 1	219						membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|upper_aerodigestive_tract(1)	13						TGTTGCTCGGGCTGTTAACTG	0.383																																					p.A219S		.											.	OGFRL1-68	0			c.G655T						.						59.0	66.0	64.0					6																	72006483		2201	4296	6497	SO:0001583	missense	79627	exon6			GCTCGGGCTGTTA		CCDS34482.1	6q13	2008-02-05			ENSG00000119900	ENSG00000119900			21378	protein-coding gene	gene with protein product							Standard	NM_024576		Approved	dJ331H24.1	uc003pfx.1	Q5TC84	OTTHUMG00000015000	ENST00000370435.4:c.655G>T	6.37:g.72006483G>T	ENSP00000359464:p.Ala219Ser	52	0		42	4	NM_024576	0	0	8	8	0	Q2TAC1|Q8NEQ4|Q9H7B5	Missense_Mutation	SNP	ENST00000370435.4	37	CCDS34482.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.696577	0.88830	.	.	ENSG00000119900	ENST00000370435	T	0.51325	0.71	5.63	5.63	0.86233	Opioid growth factor receptor (OGFr) conserved domain (1);	0.000000	0.85682	D	0.000000	T	0.52008	0.1708	L	0.35414	1.06	0.58432	D	0.999996	D	0.76494	0.999	D	0.83275	0.996	T	0.37361	-0.9709	10	0.31617	T	0.26	-15.7834	20.0429	0.97598	0.0:0.0:1.0:0.0	.	219	Q5TC84	OGRL1_HUMAN	S	219	ENSP00000359464:A219S	ENSP00000359464:A219S	A	+	1	0	OGFRL1	72063204	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.009000	0.88606	2.812000	0.96745	0.555000	0.69702	GCT	.		0.383	OGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041153.2	NM_024576	
ALDH8A1	64577	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	135239705	135239705	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr6:135239705G>T	ENST00000265605.2	-	7	1380	c.1312C>A	c.(1312-1314)Ctg>Atg	p.L438M	ALDH8A1_ENST00000367847.2_Missense_Mutation_p.L388M|ALDH8A1_ENST00000367845.2_Missense_Mutation_p.L384M	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	438					9-cis-retinoic acid biosynthetic process (GO:0042904)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	retinal dehydrogenase activity (GO:0001758)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		CCAGACTGCAGCTTCTTAGCC	0.562																																					p.L438M		.											.	ALDH8A1-94	0			c.C1312A						.						96.0	74.0	81.0					6																	135239705		2203	4300	6503	SO:0001583	missense	64577	exon7			ACTGCAGCTTCTT	AL021939	CCDS5171.1, CCDS5172.1, CCDS55057.1	6q24.1-q25.1	2008-07-03			ENSG00000118514	ENSG00000118514		"""Aldehyde dehydrogenases"""	15471	protein-coding gene	gene with protein product		606467				11007799	Standard	NM_001193480		Approved	ALDH12	uc003qew.3	Q9H2A2	OTTHUMG00000015623	ENST00000265605.2:c.1312C>A	6.37:g.135239705G>T	ENSP00000265605:p.Leu438Met	182	1		141	58	NM_022568	0	0	0	0	0	B7Z521|O60793|Q24JS9|Q53GT3|Q5TI80	Missense_Mutation	SNP	ENST00000265605.2	37	CCDS5171.1	.	.	.	.	.	.	.	.	.	.	G	17.84	3.487351	0.63962	.	.	ENSG00000118514	ENST00000265605;ENST00000367845;ENST00000367847;ENST00000460753	T;T;T;T	0.80033	-1.33;1.28;-1.33;-1.33	6.07	0.335	0.15953	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.134734	0.52532	D	0.000069	T	0.81851	0.4910	M	0.65975	2.015	0.54753	D	0.999983	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.74348	0.983;0.972;0.983	T	0.81362	-0.0967	10	0.48119	T	0.1	.	11.8742	0.52537	0.3367:0.0:0.6633:0.0	.	388;384;438	B7Z521;Q9H2A2-2;Q9H2A2	.;.;AL8A1_HUMAN	M	438;384;388;123	ENSP00000265605:L438M;ENSP00000356819:L384M;ENSP00000356821:L388M;ENSP00000437161:L123M	ENSP00000265605:L438M	L	-	1	2	ALDH8A1	135281398	0.989000	0.36119	0.991000	0.47740	0.848000	0.48234	1.404000	0.34623	0.060000	0.16281	0.655000	0.94253	CTG	.		0.562	ALDH8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042334.2		
BCLAF1	9774	ucsc.edu	37	6	136600949	136600949	+	Missense_Mutation	SNP	G	G	A	rs149618892	byFrequency	TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr6:136600949G>A	ENST00000531224.1	-	3	308	c.56C>T	c.(55-57)tCt>tTt	p.S19F	BCLAF1_ENST00000353331.4_Missense_Mutation_p.S19F|BCLAF1_ENST00000527759.1_Missense_Mutation_p.S19F|BCLAF1_ENST00000527536.1_Missense_Mutation_p.S19F|BCLAF1_ENST00000530767.1_Missense_Mutation_p.S19F|BCLAF1_ENST00000392348.2_Missense_Mutation_p.S19F	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	19					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.S19F(3)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TCGAGAACTAGACTGTGATCT	0.313																																					p.S19F	Colon(142;1534 1789 5427 7063 28491)	.											.	BCLAF1-228	3	Substitution - Missense(3)	central_nervous_system(2)|skin(1)	c.C56T						.						86.0	78.0	80.0					6																	136600949		2203	4300	6503	SO:0001583	missense	9774	exon3			GAACTAGACTGTG	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.56C>T	6.37:g.136600949G>A	ENSP00000435210:p.Ser19Phe	26	4		30	8	NM_001077440	0	0	9	9	0	A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.987509	0.74589	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T;T	0.43294	1.34;1.16;1.19;0.95;1.3;1.16;1.06	5.97	5.97	0.96955	.	0.000000	0.64402	D	0.000004	T	0.51398	0.1672	L	0.38175	1.15	0.80722	D	1	D;D;D;D	0.69078	0.997;0.997;0.997;0.997	D;D;D;D	0.80764	0.994;0.994;0.994;0.991	T	0.52238	-0.8602	10	0.87932	D	0	-8.8653	20.4324	0.99085	0.0:0.0:1.0:0.0	.	19;19;19;19	Q9NYF8-2;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.;.;BCLF1_HUMAN;.	F	19	ENSP00000435210:S19F;ENSP00000229446:S19F;ENSP00000435441:S19F;ENSP00000436501:S19F;ENSP00000434826:S19F;ENSP00000376159:S19F;ENSP00000431734:S19F	ENSP00000229446:S19F	S	-	2	0	BCLAF1	136642642	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.918000	0.87506	2.833000	0.97629	0.585000	0.79938	TCT	G|0.972;A|0.028		0.313	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739	
VIP	7432	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	6	153077288	153077288	+	Missense_Mutation	SNP	C	C	T			TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr6:153077288C>T	ENST00000367244.3	+	5	527	c.355C>T	c.(355-357)Cct>Tct	p.P119S	VIP_ENST00000367243.3_Missense_Mutation_p.P118S	NM_003381.3	NP_003372.1	P01282	VIP_HUMAN	vasoactive intestinal peptide	119					body fluid secretion (GO:0007589)|G-protein coupled receptor signaling pathway (GO:0007186)|learning or memory (GO:0007611)|negative regulation of apoptotic process (GO:0043066)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of penile erection (GO:0060406)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of vasodilation (GO:0045909)|regulation of protein localization (GO:0032880)|regulation of sensory perception of pain (GO:0051930)|regulation of signal transduction (GO:0009966)	extracellular region (GO:0005576)|neuronal cell body (GO:0043025)	hormone activity (GO:0005179)|neuropeptide hormone activity (GO:0005184)			haematopoietic_and_lymphoid_tissue(1)|lung(4)|skin(1)	6		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144)		CTCAGAAGACCCTGTACCAGT	0.388																																					p.P119S		.											.	VIP-90	0			c.C355T						.						90.0	96.0	94.0					6																	153077288		2203	4300	6503	SO:0001583	missense	7432	exon5			GAAGACCCTGTAC		CCDS5240.1, CCDS5241.1	6q24-q27	2013-02-28			ENSG00000146469	ENSG00000146469		"""Endogenous ligands"""	12693	protein-coding gene	gene with protein product	"""prepro-VIP"""	192320					Standard	NM_003381		Approved		uc003qpe.4	P01282	OTTHUMG00000015851	ENST00000367244.3:c.355C>T	6.37:g.153077288C>T	ENSP00000356213:p.Pro119Ser	66	0		49	14	NM_003381	0	0	0	0	0	Q5TCY8|Q5TCY9|Q96QK3	Missense_Mutation	SNP	ENST00000367244.3	37	CCDS5240.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.390|3.390	-0.124422|-0.124422	0.06795|0.06795	.|.	.|.	ENSG00000146469|ENSG00000146469	ENST00000431366|ENST00000367244;ENST00000367243	.|T;T	.|0.19806	.|2.12;2.12	5.86|5.86	2.85|2.85	0.33270|0.33270	.|.	0.847591|0.847591	0.11041|0.11041	N|N	0.606064|0.606064	T|T	0.02047|0.02047	0.0064|0.0064	N|N	0.00841|0.00841	-1.15|-1.15	0.09310|0.09310	N|N	0.999999|0.999999	.|B;B;B	.|0.22003	.|0.037;0.063;0.004	.|B;B;B	.|0.18263	.|0.009;0.021;0.012	T|T	0.41680|0.41680	-0.9495|-0.9495	6|10	.|0.08179	.|T	.|0.78	.|.	17.2537|17.2537	0.87049|0.87049	0.1691:0.8309:0.0:0.0|0.1691:0.8309:0.0:0.0	.|.	.|118;118;119	.|A8K7E4;P01282-2;P01282	.|.;.;VIP_HUMAN	L|S	68|119;118	.|ENSP00000356213:P119S;ENSP00000356212:P118S	.|ENSP00000356212:P118S	P|P	+|+	2|1	0|0	VIP|VIP	153118981|153118981	0.454000|0.454000	0.25728|0.25728	0.195000|0.195000	0.23364|0.23364	0.404000|0.404000	0.30871|0.30871	2.192000|2.192000	0.42649|0.42649	0.875000|0.875000	0.35847|0.35847	0.650000|0.650000	0.86243|0.86243	CCC|CCT	.		0.388	VIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042751.1		
TCP10	6953	ucsc.edu	37	6	167791549	167791549	+	Missense_Mutation	SNP	T	T	G	rs3010594	byFrequency	TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr6:167791549T>G	ENST00000397829.4	-	4	478	c.311A>C	c.(310-312)cAt>cCt	p.H104P	TCP10_ENST00000366827.2_Missense_Mutation_p.H104P	NM_004610.3	NP_004601.3	Q12799	TCP10_HUMAN	t-complex 10	131						cytosol (GO:0005829)		p.H104P(5)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		AGCTGACAGATGTGAAATTTT	0.398																																					p.H104P		.											.	TCP10-89	5	Substitution - Missense(5)	kidney(5)	c.A311C						.	G	PRO/HIS	1662,1904		591,480,712	31.0	64.0	54.0		311	-0.4	0.0	6	dbSNP_101	54	1908,6232		700,508,2862	no	missense	TCP10	NM_004610.3	77	1291,988,3574	GG,GT,TT		23.4398,46.6068,30.4972	benign	104/327	167791549	3570,8136	1783	4070	5853	SO:0001583	missense	6953	exon4			GACAGATGTGAAA	U03399	CCDS43527.1	6q27	2012-09-20	2012-09-20		ENSG00000203690	ENSG00000203690			11656	protein-coding gene	gene with protein product		187020	"""t-complex 10 (a murine tcp homolog)"", ""t-complex 10 (mouse)"", ""t-complex 10 homolog (mouse)"""			8111376	Standard	NM_004610		Approved		uc003qvv.1	Q12799	OTTHUMG00000016026	ENST00000397829.4:c.311A>C	6.37:g.167791549T>G	ENSP00000380929:p.His104Pro	311	22		72	41	NM_004610	0	0	0	4	4	Q5JR60|Q6P4F4	Missense_Mutation	SNP	ENST00000397829.4	37	CCDS43527.1	919	0.4207875457875458	260	0.5284552845528455	120	0.3314917127071823	230	0.4020979020979021	309	0.4076517150395778	G	0.003	-2.401191	0.00195	0.466068	0.234398	ENSG00000203690	ENST00000366827;ENST00000397829;ENST00000460930	T;T;T	0.30182	1.98;2.0;1.54	1.4	-0.422	0.12329	.	.	.	.	.	T	0.01287	0.0042	N	0.00268	-1.735	0.80722	P	0.0	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.38134	-0.9675	8	0.12430	T	0.62	.	1.8097	0.03088	0.38:0.0:0.3419:0.2781	rs3010594;rs3737100;rs17855836	104;131;131	D1MPS5;Q12799;Q12799-2	.;TCP10_HUMAN;.	P	104;104;100	ENSP00000355792:H104P;ENSP00000380929:H104P;ENSP00000426065:H100P	ENSP00000355792:H104P	H	-	2	0	TCP10	167711539	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.440000	0.06888	-0.626000	0.05596	-0.648000	0.03929	CAT	G|1.000;|0.000		0.398	TCP10-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365570.1	NM_004610	
GARS	2617	hgsc.bcm.edu	37	7	30634661	30634661	+	Missense_Mutation	SNP	C	C	G	rs1049402	byFrequency	TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr7:30634661C>G	ENST00000389266.3	+	1	365	c.124C>G	c.(124-126)Ccc>Gcc	p.P42A	AC005154.6_ENST00000581665.1_RNA|AC005154.6_ENST00000582549.1_RNA|AC005154.6_ENST00000578994.1_RNA|AC005154.6_ENST00000579174.1_RNA|AC005154.6_ENST00000580440.1_RNA|AC005154.6_ENST00000584199.1_RNA|AC005154.6_ENST00000583664.1_RNA|AC005154.6_ENST00000584372.1_RNA	NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	42			P -> A (in dbSNP:rs1049402). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:7753621, ECO:0000269|PubMed:7961834, ECO:0000269|PubMed:7962006}.		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)	p.P42fs*20(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	GGCCTCCTGCCCCCCGATCTC	0.736													G|||	3252	0.649361	0.5219	0.7147	5008	,	,		13746	0.6677		0.7634	False		,,,				2504	0.6391				p.P42A		.											.	GARS-91	1	Insertion - Frameshift(1)	large_intestine(1)	c.C124G						.	G	ALA/PRO	2445,1427		776,893,267	5.0	8.0	7.0		124	-6.6	0.0	7	dbSNP_86	7	6367,1671		2577,1213,229	no	missense	GARS	NM_002047.2	27	3353,2106,496	GG,GC,CC		20.7888,36.8543,26.0118	benign	42/740	30634661	8812,3098	1936	4019	5955	SO:0001583	missense	2617	exon1			TCCTGCCCCCCGA	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.124C>G	7.37:g.30634661C>G	ENSP00000373918:p.Pro42Ala	0	0		10	9	NM_002047	0	0	0	36	36	B3KQA2|B4DIA0|Q969Y1	Missense_Mutation	SNP	ENST00000389266.3	37	CCDS43564.1	1456	0.6666666666666666	278	0.5650406504065041	268	0.7403314917127072	337	0.5891608391608392	573	0.7559366754617414	G	0.005	-2.164835	0.00318	0.631457	0.792112	ENSG00000106105	ENST00000389266	T	0.80393	-1.37	3.31	-6.63	0.01807	.	1.037800	0.07609	N	0.925137	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.13575	-1.0504	9	0.08179	T	0.78	.	5.5596	0.17135	0.0726:0.2689:0.1197:0.5389	rs1049402;rs3189564;rs11553500;rs17856223;rs17856227;rs1049402	42	P41250	SYG_HUMAN	A	42	ENSP00000373918:P42A	ENSP00000373918:P42A	P	+	1	0	GARS	30601186	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-0.671000	0.05250	-2.551000	0.00479	-0.744000	0.03518	CCC	C|0.329;G|0.671		0.736	GARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327735.1	NM_002047	
TECPR1	25851	broad.mit.edu;bcgsc.ca	37	7	97866139	97866139	+	Missense_Mutation	SNP	G	G	T	rs199829801		TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr7:97866139G>T	ENST00000447648.2	-	10	1429	c.1130C>A	c.(1129-1131)gCg>gAg	p.A377E	TECPR1_ENST00000542604.1_Missense_Mutation_p.A307E|TECPR1_ENST00000379795.3_Missense_Mutation_p.A377E			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	377					autophagic vacuole fusion (GO:0000046)|autophagy (GO:0006914)	autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CTCTCGGGCCGCGATGATGGC	0.647																																					p.A377E		.											.	TECPR1-91	0			c.C1130A						.						24.0	30.0	28.0					7																	97866139		2061	4193	6254	SO:0001583	missense	25851	exon10			CGGGCCGCGATGA		CCDS47648.1	7q21.3	2009-01-30			ENSG00000205356	ENSG00000205356			22214	protein-coding gene	gene with protein product		614781					Standard	NM_015395		Approved	DKFZP434B0335, FLJ23419, FLJ90593, KIAA1358	uc003upg.4	Q7Z6L1	OTTHUMG00000154273	ENST00000447648.2:c.1130C>A	7.37:g.97866139G>T	ENSP00000404923:p.Ala377Glu	59	0		81	5	NM_015395	0	0	7	7	0	A8KAD1|B3KPZ1|C9J024|F5GX57|Q96EB0|Q9P2I9|Q9UFR6	Missense_Mutation	SNP	ENST00000447648.2	37	CCDS47648.1	.	.	.	.	.	.	.	.	.	.	G	9.876	1.200294	0.22121	.	.	ENSG00000205356	ENST00000447648;ENST00000379795;ENST00000542604	T;T;T	0.32753	1.44;1.44;1.45	4.6	0.612	0.17591	.	0.514973	0.20646	N	0.088317	T	0.22513	0.0543	N	0.08118	0	0.09310	N	1	D;P	0.57899	0.981;0.846	P;B	0.56343	0.796;0.346	T	0.08659	-1.0711	10	0.54805	T	0.06	-17.0782	5.7262	0.18015	0.3977:0.1278:0.4745:0.0	.	307;377	F5GX57;Q7Z6L1	.;TCPR1_HUMAN	E	377;377;307	ENSP00000404923:A377E;ENSP00000369121:A377E;ENSP00000441121:A307E	ENSP00000369121:A377E	A	-	2	0	TECPR1	97704075	0.047000	0.20315	0.002000	0.10522	0.007000	0.05969	0.782000	0.26788	0.067000	0.16545	-1.523000	0.00931	GCG	G|0.999;A|0.000		0.647	TECPR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334661.1	NM_015395	
KIAA1549	57670	broad.mit.edu	37	7	138555976	138555976	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr7:138555976G>T	ENST00000422774.1	-	13	4526	c.4478C>A	c.(4477-4479)cCg>cAg	p.P1493Q	KIAA1549_ENST00000242365.4_Missense_Mutation_p.P1443Q|KIAA1549_ENST00000440172.1_Missense_Mutation_p.P1493Q			Q9HCM3	K1549_HUMAN	KIAA1549	1493						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TGCCGGGATCGGCTGCATGGC	0.577			O	BRAF	pilocytic astrocytoma																																p.P1493Q	NSCLC(119;1534 1718 44213 46230 50068)	.		Dom	yes		7	7q34	57670	KIAA1549		O	.	KIAA1549-369	0			c.C4478A						.						31.0	40.0	37.0					7																	138555976		1973	4132	6105	SO:0001583	missense	57670	exon13			GGGATCGGCTGCA		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.4478C>A	7.37:g.138555976G>T	ENSP00000416040:p.Pro1493Gln	20	0		20	3	NM_020910	0	0	2	2	0	B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	ENST00000422774.1	37	CCDS56513.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.152087	0.78001	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	D;D;D	0.82803	-1.63;-1.6;-1.65	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	D	0.91503	0.7317	M	0.79926	2.475	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.92363	0.5899	10	0.87932	D	0	.	17.8161	0.88634	0.0:0.0:1.0:0.0	.	1493;277;1493;277	Q9HCM3;Q9HCM3-4;Q9HCM3-2;Q9HCM3-3	K1549_HUMAN;.;.;.	Q	1493;1443;1493	ENSP00000406661:P1493Q;ENSP00000242365:P1443Q;ENSP00000416040:P1493Q	ENSP00000242365:P1443Q	P	-	2	0	KIAA1549	138206516	1.000000	0.71417	0.998000	0.56505	0.432000	0.31715	9.263000	0.95617	2.676000	0.91093	0.655000	0.94253	CCG	.		0.577	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1		
KEL	3792	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	142636757	142636757	+	IGR	SNP	C	C	G			TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr7:142636757C>G	ENST00000355265.2	-	0	2812				C7orf34_ENST00000409607.3_Missense_Mutation_p.F38L	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase						vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GGGCAGTGTTCCTGGTTCCTA	0.647																																					p.F38L		.											.	C7orf34-90	0			c.C114G						.						54.0	54.0	54.0					7																	142636757		2203	4300	6503	SO:0001628	intergenic_variant	135927	exon1			AGTGTTCCTGGTT	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"""CD molecules"", ""Blood group antigens"""	6308	protein-coding gene	gene with protein product		613883	"""Kell blood group"", ""Kell blood group, metalloendopeptidase"""			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159		7.37:g.142636757C>G		48	0		66	34	NM_178829	0	0	0	0	0	B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	ENST00000355265.2	37	CCDS34766.1	.	.	.	.	.	.	.	.	.	.	c	9.465	1.094130	0.20471	.	.	ENSG00000165131	ENST00000409607	.	.	.	4.13	2.25	0.28309	.	0.579405	0.15713	N	0.248303	T	0.33556	0.0867	L	0.35854	1.095	0.30109	N	0.806746	B	0.14438	0.01	B	0.11329	0.006	T	0.24225	-1.0166	9	0.44086	T	0.13	.	5.7219	0.17992	0.0:0.6919:0.1984:0.1096	.	13	Q96L11	CG034_HUMAN	L	38	.	ENSP00000386450:F38L	F	+	3	2	C7orf34	142346879	0.934000	0.31675	0.718000	0.30602	0.041000	0.13682	0.372000	0.20467	0.476000	0.27440	0.550000	0.68814	TTC	.		0.647	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420	
GSTK1	373156	broad.mit.edu;bcgsc.ca;mdanderson.org	37	7	142962356	142962356	+	Silent	SNP	T	T	C			TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr7:142962356T>C	ENST00000358406.5	+	5	458	c.387T>C	c.(385-387)aaT>aaC	p.N129N	GSTK1_ENST00000443571.2_Silent_p.N86N|GSTK1_ENST00000409500.3_Intron|GSTK1_ENST00000479303.1_Silent_p.N185N|AC073342.12_ENST00000427392.1_RNA	NM_015917.2	NP_057001.1	Q9Y2Q3	GSTK1_HUMAN	glutathione S-transferase kappa 1	129					epithelial cell differentiation (GO:0030855)|glutathione metabolic process (GO:0006749)|oxidation-reduction process (GO:0055114)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|peroxisome (GO:0005777)	glutathione peroxidase activity (GO:0004602)|glutathione transferase activity (GO:0004364)|protein disulfide oxidoreductase activity (GO:0015035)|receptor binding (GO:0005102)			lung(4)	4	Melanoma(164;0.059)				Glutathione(DB00143)	CTTCCCAGAATGAAGACATCA	0.597																																					p.N185N		.											.	GSTK1-90	0			c.T555C						.						32.0	26.0	28.0					7																	142962356		2203	4300	6503	SO:0001819	synonymous_variant	373156	exon4			CCAGAATGAAGAC		CCDS5877.1, CCDS47730.1, CCDS47731.1, CCDS47732.1	7q34	2012-06-21			ENSG00000197448	ENSG00000197448	2.5.1.18	"""Glutathione S-transferases / Mitochondrial (kappa)"""	16906	protein-coding gene	gene with protein product		602321				12720545, 14742434	Standard	NM_015917		Approved	GST13	uc003wcj.3	Q9Y2Q3	OTTHUMG00000152637	ENST00000358406.5:c.387T>C	7.37:g.142962356T>C		37	1		54	18	NM_001143679	0	0	12	15	3	B4DIH1|B4DSY2|Q6P4H0|Q7Z520|Q9P1S4	Silent	SNP	ENST00000358406.5	37	CCDS5877.1																																																																																			.		0.597	GSTK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327091.1	NM_015917	
DLGAP2	9228	broad.mit.edu	37	8	1649469	1649469	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr8:1649469G>T	ENST00000421627.2	+	12	2959	c.2825G>T	c.(2824-2826)cGc>cTc	p.R942L		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	1021					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		GCCCGGAGGCGCCTCATGGCC	0.637																																					p.R942L		.											.	DLGAP2-22	0			c.G2825T						.						12.0	16.0	15.0					8																	1649469		2115	4253	6368	SO:0001583	missense	9228	exon12			GGAGGCGCCTCAT	AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"""discs, large (Drosophila) homolog-associated protein 2"""			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.2825G>T	8.37:g.1649469G>T	ENSP00000400258:p.Arg942Leu	75	0		144	6	NM_004745	0	0	0	0	0	A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Missense_Mutation	SNP	ENST00000421627.2	37	CCDS47760.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.561786|5.561786	0.96527|0.96527	.|.	.|.	ENSG00000198010|ENSG00000198010	ENST00000520901|ENST00000356067;ENST00000421627	.|T	.|0.21932	.|1.98	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.55940|0.55940	0.1952|0.1952	M|M	0.88979|0.88979	2.995|2.995	0.58432|0.58432	D|D	0.999996|0.999996	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.999	T|T	0.63028|0.63028	-0.6728|-0.6728	5|10	.|0.62326	.|D	.|0.03	-15.5091|-15.5091	19.3914|19.3914	0.94584|0.94584	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1007;1021	.|Q9P1A6-2;Q9P1A6	.|.;DLGP2_HUMAN	S|L	945|973;942	.|ENSP00000400258:R942L	.|ENSP00000348366:R973L	A|R	+|+	1|2	0|0	DLGAP2|DLGAP2	1636876|1636876	1.000000|1.000000	0.71417|0.71417	0.932000|0.932000	0.37286|0.37286	0.829000|0.829000	0.46940|0.46940	9.315000|9.315000	0.96313|0.96313	2.587000|2.587000	0.87381|0.87381	0.491000|0.491000	0.48974|0.48974	GCC|CGC	.		0.637	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745	
MYOM2	9172	broad.mit.edu	37	8	2021562	2021562	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr8:2021562G>T	ENST00000262113.4	+	10	1243	c.1102G>T	c.(1102-1104)Gcc>Tcc	p.A368S	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	368	Ig-like C2-type 2.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CGACCACAGCGCCTTCCTGTT	0.677																																					p.A368S		.											.	MYOM2-95	0			c.G1102T						.						40.0	35.0	37.0					8																	2021562		2203	4300	6503	SO:0001583	missense	9172	exon10			CACAGCGCCTTCC		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.1102G>T	8.37:g.2021562G>T	ENSP00000262113:p.Ala368Ser	76	0		89	4	NM_003970	0	0	0	0	0	Q7Z3Y2	Missense_Mutation	SNP	ENST00000262113.4	37	CCDS5957.1	.	.	.	.	.	.	.	.	.	.	G	33	5.204957	0.95033	.	.	ENSG00000036448	ENST00000262113	T	0.70516	-0.49	4.9	4.9	0.64082	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Fibronectin, type III (1);	0.000000	0.85682	D	0.000000	D	0.82375	0.5023	M	0.76574	2.34	0.58432	D	0.999996	P	0.50528	0.936	P	0.59825	0.864	D	0.84330	0.0521	10	0.56958	D	0.05	.	18.0821	0.89444	0.0:0.0:1.0:0.0	.	368	P54296	MYOM2_HUMAN	S	368	ENSP00000262113:A368S	ENSP00000262113:A368S	A	+	1	0	MYOM2	2008969	1.000000	0.71417	0.992000	0.48379	0.877000	0.50540	9.433000	0.97501	2.237000	0.73441	0.655000	0.94253	GCC	.		0.677	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970	
BHLHE22	27319	hgsc.bcm.edu	37	8	65493532	65493532	+	Missense_Mutation	SNP	T	T	A	rs62519835	byFrequency	TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr8:65493532T>A	ENST00000321870.1	+	1	719	c.185T>A	c.(184-186)cTg>cAg	p.L62Q	RP11-21C4.1_ENST00000517909.1_RNA	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix family, member e22	62					anterior commissure morphogenesis (GO:0021960)|cerebral cortex regionalization (GO:0021796)|corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|retinal bipolar neuron differentiation (GO:0060040)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.L62Q(1)		NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						TCGTCGCCCCTGGGCTGCTTC	0.776													T|||	233	0.0465256	0.0053	0.0706	5008	,	,		6928	0.004		0.1481	False		,,,				2504	0.0245				p.L62Q	Colon(113;104 1586 2865 9855 18065)	.											.	BHLHE22-90	1	Substitution - Missense(1)	NS(1)	c.T185A						.	T	GLN/LEU	38,3528		0,38,1745	4.0	5.0	4.0		185	2.0	1.0	8	dbSNP_129	4	573,6683		11,551,3066	no	missense	BHLHE22	NM_152414.4	113	11,589,4811	AA,AT,TT		7.8969,1.0656,5.6459	probably-damaging	62/382	65493532	611,10211	1783	3628	5411	SO:0001583	missense	27319	exon1			CGCCCCTGGGCTG	U80755	CCDS6179.1	8q12.1	2009-01-12	2009-01-12	2009-01-12		ENSG00000180828		"""Basic helix-loop-helix proteins"""	11963	protein-coding gene	gene with protein product		613483	"""trinucleotide repeat containing 20"", ""basic helix-loop-helix domain containing, class B, 5"""	TNRC20, BHLHB5		9225980, 12213201, 18557763	Standard	NM_152414		Approved	CAGL85, Beta3, bHLHe22	uc003xvi.3	Q8NFJ8		ENST00000321870.1:c.185T>A	8.37:g.65493532T>A	ENSP00000318799:p.Leu62Gln	0	0		24	11	NM_152414	0	0	0	0	0		Missense_Mutation	SNP	ENST00000321870.1	37	CCDS6179.1	139	0.06364468864468864	5	0.01016260162601626	24	0.06629834254143646	1	0.0017482517482517483	109	0.1437994722955145	T	14.21	2.468289	0.43839	0.010656	0.078969	ENSG00000180828	ENST00000321870	D	0.97888	-4.59	3.18	1.96	0.26148	.	0.107189	0.40144	U	0.001175	T	0.10252	0.0251	N	0.24115	0.695	0.35078	P	0.23685	B	0.34015	0.435	B	0.31337	0.128	T	0.66941	-0.5796	9	0.54805	T	0.06	-9.9523	5.2123	0.15325	0.0:0.1025:0.1827:0.7148	rs62519835	62	Q8NFJ8	BHE22_HUMAN	Q	62	ENSP00000318799:L62Q	ENSP00000318799:L62Q	L	+	2	0	BHLHE22	65656086	0.992000	0.36948	1.000000	0.80357	0.982000	0.71751	2.935000	0.48963	0.410000	0.25675	0.374000	0.22700	CTG	T|0.935;A|0.065		0.776	BHLHE22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378549.1	NM_152414	
CSPP1	79848	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	8	68084742	68084742	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr8:68084742G>T	ENST00000262210.5	+	23	2936	c.2905G>T	c.(2905-2907)Gct>Tct	p.A969S	CSPP1_ENST00000412460.1_Missense_Mutation_p.A624S|CSPP1_ENST00000521168.1_3'UTR	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	1004					positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			GGGCTTAGACGCTGCCACTTT	0.403																																					p.A969S		.											.	CSPP1-138	0			c.G2905T						.						65.0	66.0	66.0					8																	68084742		1843	4098	5941	SO:0001583	missense	79848	exon23			TTAGACGCTGCCA	AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.2905G>T	8.37:g.68084742G>T	ENSP00000262210:p.Ala969Ser	45	0		80	6	NM_024790	0	0	4	4	0	A6ND63|Q70F00|Q8TBC1	Missense_Mutation	SNP	ENST00000262210.5	37	CCDS43744.1	.	.	.	.	.	.	.	.	.	.	G	9.553	1.116528	0.20795	.	.	ENSG00000104218	ENST00000262210;ENST00000389042;ENST00000412460;ENST00000519668	T;T;T	0.35236	1.32;1.35;1.35	5.62	-5.35	0.02697	.	0.657112	0.14882	N	0.292924	T	0.13756	0.0333	N	0.19112	0.55	0.09310	N	1	B;B;B;B	0.16166	0.002;0.016;0.006;0.006	B;B;B;B	0.14578	0.005;0.011;0.005;0.005	T	0.21211	-1.0252	10	0.18710	T	0.47	0.5209	0.6392	0.00807	0.2111:0.2483:0.2752:0.2654	.	127;624;969;1004	Q9H688;Q1MSJ5-2;Q1MSJ5-1;Q1MSJ5	.;.;.;CSPP1_HUMAN	S	969;1004;624;624	ENSP00000262210:A969S;ENSP00000415782:A624S;ENSP00000430092:A624S	ENSP00000262210:A969S	A	+	1	0	CSPP1	68247296	0.000000	0.05858	0.000000	0.03702	0.744000	0.42396	-0.361000	0.07612	-1.792000	0.01259	0.655000	0.94253	GCT	.		0.403	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379254.1	NM_024790	
TMEM74	157753	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	109796609	109796609	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr8:109796609G>A	ENST00000297459.3	-	2	897	c.719C>T	c.(718-720)aCg>aTg	p.T240M	TMEM74_ENST00000518838.1_Intron	NM_153015.1	NP_694560.1	Q96NL1	TMM74_HUMAN	transmembrane protein 74	240					autophagy (GO:0006914)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)		p.T240M(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			GCCCCCCAGCGTGAGGAGGCA	0.587																																					p.T240M		.											.	TMEM74-228	1	Substitution - Missense(1)	prostate(1)	c.C719T						.						64.0	62.0	63.0					8																	109796609		2203	4300	6503	SO:0001583	missense	157753	exon2			CCCAGCGTGAGGA	AK055230	CCDS6310.1	8q23.1	2009-11-06				ENSG00000164841			26409	protein-coding gene	gene with protein product		613935				12477932	Standard	NM_153015		Approved	FLJ30668, NET36	uc003ymy.1	Q96NL1		ENST00000297459.3:c.719C>T	8.37:g.109796609G>A	ENSP00000297459:p.Thr240Met	103	0		114	31	NM_153015	0	0	0	0	0		Missense_Mutation	SNP	ENST00000297459.3	37	CCDS6310.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.318149	0.81469	.	.	ENSG00000164841	ENST00000297459	T	0.19394	2.15	5.42	5.42	0.78866	.	0.102142	0.64402	D	0.000003	T	0.48040	0.1478	M	0.69358	2.11	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.42447	-0.9451	10	0.87932	D	0	-17.0071	19.416	0.94700	0.0:0.0:1.0:0.0	.	240	Q96NL1	TMM74_HUMAN	M	240	ENSP00000297459:T240M	ENSP00000297459:T240M	T	-	2	0	TMEM74	109865785	1.000000	0.71417	0.973000	0.42090	0.826000	0.46750	9.657000	0.98554	2.821000	0.97095	0.650000	0.86243	ACG	.		0.587	TMEM74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380755.1	NM_153015	
MAL2	114569	hgsc.bcm.edu	37	8	120220776	120220776	+	Splice_Site	DEL	G	G	-	rs398009582|rs71302978		TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr8:120220776delG	ENST00000276681.6	+	1	167	c.65delG	c.(64-66)cgg>cg	p.R22fs	MAL2_ENST00000521748.1_3'UTR	NM_052886.2	NP_443118.1	Q969L2	MAL2_HUMAN	mal, T-cell differentiation protein 2 (gene/pseudogene)	22						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)						all_cancers(13;1.91e-26)|Lung NSC(37;8.61e-08)|Ovarian(258;0.018)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000967)			CCGCCGCCCCGGGGTCACCCT	0.771													GGG|GGGG|GGG|insertion	5008	1.0	1.0	1.0	5008	,	,		6681	1.0		1.0	False		,,,				2504	1.0				.		.											.	.	0			c.64+1G>-						.			1571,11		785,1,5	1.0	1.0	1.0			0.7	0.8	8	dbSNP_130	1	4116,22		2057,2,10	no	frameshift	MAL2	NM_052886.2		2842,3,15	A1A1,A1R,RR		0.5317,0.6953,0.5769			120220776	5687,33	184	483	667	SO:0001630	splice_region_variant	114569	exon1			CGCCCCGGGGTCA	AL117612	CCDS75780.1	8q23	2011-01-26	2011-01-26			ENSG00000147676			13634	protein-coding gene	gene with protein product	"""MAL proteolipid protein 2"""	609684				11549320	Standard	NM_052886		Approved		uc003yop.3	Q969L2		ENST00000276681.6:c.66+1G>-	8.37:g.120220776delG		0	0		14	13	NM_052886	0	0	0	0	0	B2R520|Q6ZMD9	Splice_Site	DEL	ENST00000276681.6	37																																																																																				.		0.771	MAL2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052886	Frame_Shift_Del
THEM6	51337	hgsc.bcm.edu	37	8	143809193	143809193	+	Silent	SNP	C	C	T	rs2257840	byFrequency	TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr8:143809193C>T	ENST00000336138.3	+	1	573	c.429C>T	c.(427-429)ggC>ggT	p.G143G	CTD-2292P10.2_ENST00000519782.1_RNA|CTD-2292P10.4_ENST00000520572.1_RNA	NM_016647.2	NP_057731.1	Q8WUY1	THEM6_HUMAN	thioesterase superfamily member 6	143						extracellular region (GO:0005576)											TGCGGGACGGCTTCGTGTGCG	0.736													C|||	2369	0.473043	0.584	0.4496	5008	,	,		13930	0.4196		0.4722	False		,,,				2504	0.3957				p.G143G		.											.	.	0			c.C429T						.	C		1812,1920		513,786,567	3.0	3.0	3.0		429	2.5	1.0	8	dbSNP_100	3	2967,4315		724,1519,1398	no	coding-synonymous	C8orf55	NM_016647.2		1237,2305,1965	TT,TC,CC		40.7443,48.5531,43.3902		143/209	143809193	4779,6235	1866	3641	5507	SO:0001819	synonymous_variant	51337	exon1			GGACGGCTTCGTG	BC001311	CCDS6386.1	8q24.3	2012-05-03	2012-04-13	2012-04-13	ENSG00000130193	ENSG00000130193			29656	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 55"""	C8orf55		12477932	Standard	XM_005250955		Approved	DSCD75	uc003yww.1	Q8WUY1	OTTHUMG00000164673	ENST00000336138.3:c.429C>T	8.37:g.143809193C>T		0	0		13	11	NM_016647	0	0	0	14	14	B2RDN6|Q8NBN2|Q9NYI2	Silent	SNP	ENST00000336138.3	37	CCDS6386.1																																																																																			C|0.534;T|0.466		0.736	THEM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379706.1	NM_016647	
ZNF696	79943	hgsc.bcm.edu	37	8	144378868	144378868	+	Silent	SNP	A	A	G	rs7386259	byFrequency	TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr8:144378868A>G	ENST00000330143.3	+	3	1432	c.1023A>G	c.(1021-1023)cgA>cgG	p.R341R		NM_030895.2	NP_112157.2	Q9H7X3	ZN696_HUMAN	zinc finger protein 696	341					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			GGCACCAGCGACTCCACACGG	0.726													G|||	4505	0.899561	0.9425	0.9179	5008	,	,		11520	0.8403		0.8608	False		,,,				2504	0.9294				p.R341R		.											.	ZNF696-90	0			c.A1023G						.	G		3773,275		1771,231,22	5.0	5.0	5.0		1023	-0.3	0.0	8	dbSNP_116	5	6735,1261		2843,1049,106	no	coding-synonymous	ZNF696	NM_030895.2		4614,1280,128	GG,GA,AA		15.7704,6.7935,12.7532		341/375	144378868	10508,1536	2024	3998	6022	SO:0001819	synonymous_variant	79943	exon3			CCAGCGACTCCAC	AK024191	CCDS6399.1	8q24.3	2013-01-08				ENSG00000185730		"""Zinc fingers, C2H2-type"""	25872	protein-coding gene	gene with protein product							Standard	NM_030895		Approved	FLJ14129	uc003yxy.4	Q9H7X3		ENST00000330143.3:c.1023A>G	8.37:g.144378868A>G		2	0		14	5	NM_030895	0	0	4	6	2	A0AVE2	Silent	SNP	ENST00000330143.3	37	CCDS6399.1																																																																																			A|0.118;G|0.882		0.726	ZNF696-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381164.2	NM_030895	
SCRIB	23513	hgsc.bcm.edu	37	8	144874554	144874554	+	Silent	SNP	T	T	C	rs6991873	byFrequency	TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr8:144874554T>C	ENST00000320476.3	-	32	4356	c.4350A>G	c.(4348-4350)ccA>ccG	p.P1450P	RP11-429J17.8_ENST00000532625.1_RNA|SCRIB_ENST00000377533.3_Silent_p.P1369P|SCRIB_ENST00000546337.1_5'Flank|RP11-429J17.8_ENST00000527139.1_RNA|RP11-429J17.8_ENST00000534089.1_RNA|SCRIB_ENST00000356994.2_Silent_p.P1450P	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	1450					activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CTCCCAGGGGTGGGGGGGACG	0.751													T|||	4958	0.990016	0.9652	0.9971	5008	,	,		8428	1.0		0.998	False		,,,				2504	1.0				p.P1450P	Pancreas(51;966 1133 10533 14576 29674)	.											.	SCRIB-228	0			c.A4350G						.	T	,	3300,62		1619,62,0	3.0	4.0	4.0		4350,4350	-2.9	0.0	8	dbSNP_116	4	7076,4		3536,4,0	no	coding-synonymous,coding-synonymous	SCRIB	NM_015356.3,NM_182706.3	,	5155,66,0	CC,CT,TT		0.0565,1.8441,0.6321	,	1450/1631,1450/1656	144874554	10376,66	1681	3540	5221	SO:0001819	synonymous_variant	23513	exon32			CAGGGGTGGGGGG	AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"""scribbled homolog (Drosophila)"""			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.4350A>G	8.37:g.144874554T>C		0	0		7	7	NM_015356	0	0	0	36	36	Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Silent	SNP	ENST00000320476.3	37	CCDS6411.1	2162	0.98992673992674	472	0.959349593495935	361	0.9972375690607734	572	1.0	757	0.9986807387862797	T	5.986	0.365776	0.11352	0.981559	0.999435	ENSG00000180900	ENST00000526832	.	.	.	4.01	-2.89	0.05665	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	T	0.20773	-1.0265	3	.	.	.	.	6.6143	0.22769	0.0:0.6476:0.1513:0.201	rs6991873	.	.	.	A	470	.	.	T	-	1	0	SCRIB	144946542	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-0.411000	0.07142	-0.857000	0.04115	-0.386000	0.06593	ACC	T|0.010;C|0.990		0.751	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356	
EPPK1	83481	hgsc.bcm.edu;broad.mit.edu	37	8	144940732	144940732	+	Silent	SNP	C	C	T			TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr8:144940732C>T	ENST00000525985.1	-	2	6761	c.6690G>A	c.(6688-6690)ctG>ctA	p.L2230L				P58107	EPIPL_HUMAN	epiplakin 1	2230						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)	p.L2230L(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGGCGGGCACCAGGACGCCCG	0.687																																					p.L2230L		.											.	EPPK1-25	1	Substitution - coding silent(1)	kidney(1)	c.G6690A						.																																			SO:0001819	synonymous_variant	83481	exon1			GGGCACCAGGACG	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6690G>A	8.37:g.144940732C>T		36	0		88	5	NM_031308	0	0	0	0	0	Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37																																																																																				.		0.687	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308	
TUSC1	286319	hgsc.bcm.edu	37	9	25678122	25678122	+	Silent	SNP	G	G	C	rs72631814	byFrequency	TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	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		13	13	NM_001004125	0	0	0	2	2	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	
TAF1L	138474	broad.mit.edu	37	9	32632961	32632961	+	Missense_Mutation	SNP	G	G	A			TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr9:32632961G>A	ENST00000242310.4	-	1	2706	c.2617C>T	c.(2617-2619)Cgc>Tgc	p.R873C	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	873					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		ATCCCTGTGCGTTTGAAGTCA	0.483																																					p.R873C		.											.	TAF1L-870	0			c.C2617T						.						147.0	147.0	147.0					9																	32632961		2203	4300	6503	SO:0001583	missense	138474	exon1			CTGTGCGTTTGAA	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.2617C>T	9.37:g.32632961G>A	ENSP00000418379:p.Arg873Cys	259	0		121	5	NM_153809	0	0	0	0	0	Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	G	14.48	2.548593	0.45383	.	.	ENSG00000122728	ENST00000242310	T	0.20332	2.08	1.19	1.19	0.21007	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.000000	0.85682	D	0.000000	T	0.50292	0.1607	M	0.93462	3.42	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.55231	-0.8173	10	0.87932	D	0	.	7.8312	0.29344	0.0:0.0:1.0:0.0	.	873	Q8IZX4	TAF1L_HUMAN	C	873	ENSP00000418379:R873C	ENSP00000418379:R873C	R	-	1	0	TAF1L	32622961	1.000000	0.71417	0.996000	0.52242	0.703000	0.40648	6.138000	0.71717	0.632000	0.30432	0.195000	0.17529	CGC	.		0.483	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2		
PNPLA7	375775	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	9	140356481	140356481	+	Missense_Mutation	SNP	G	G	T			TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr9:140356481G>T	ENST00000277531.4	-	31	3769	c.3583C>A	c.(3583-3585)Cag>Aag	p.Q1195K	NSMF_ENST00000371472.2_5'Flank|PNPLA7_ENST00000492278.1_5'UTR|NSMF_ENST00000265663.7_5'Flank|NSMF_ENST00000371474.3_5'Flank|NSMF_ENST00000371473.3_5'Flank|NSMF_ENST00000392812.4_5'Flank|NSMF_ENST00000371475.3_5'Flank|PNPLA7_ENST00000406427.1_Missense_Mutation_p.Q1220K|PNPLA7_ENST00000371457.1_Missense_Mutation_p.Q801K|NSMF_ENST00000437259.1_5'Flank	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	1195					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		CGCCCGTGCTGGTAGCCCACT	0.682																																					p.Q1220K		.											.	PNPLA7-91	0			c.C3658A						.						11.0	13.0	12.0					9																	140356481		2188	4292	6480	SO:0001583	missense	375775	exon32			CGTGCTGGTAGCC	AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"""Patatin-like phospholipase domain containing"""	24768	protein-coding gene	gene with protein product		612122	"""chromosome 9 open reading frame 111"""	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.3583C>A	9.37:g.140356481G>T	ENSP00000277531:p.Gln1195Lys	27	0		41	4	NM_001098537	0	0	0	0	0	B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Missense_Mutation	SNP	ENST00000277531.4	37	CCDS7045.1	.	.	.	.	.	.	.	.	.	.	G	15.28	2.787679	0.49997	.	.	ENSG00000130653	ENST00000371457;ENST00000371446;ENST00000277531;ENST00000406427;ENST00000434090	T;T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04;-1.04	4.33	4.33	0.51752	Acyl transferase/acyl hydrolase/lysophospholipase (1);	0.000000	0.85682	D	0.000000	T	0.82111	0.4966	L	0.38175	1.15	0.80722	D	1	D;D;D;B	0.76494	0.972;0.999;0.997;0.125	P;D;D;B	0.83275	0.695;0.996;0.926;0.05	T	0.80281	-0.1448	10	0.29301	T	0.29	-26.2416	16.1832	0.81925	0.0:0.0:1.0:0.0	.	603;1220;1195;442	E2QRF8;Q6ZV29-5;Q6ZV29;B3KXH5	.;.;PLPL7_HUMAN;.	K	801;603;1195;1220;1186	ENSP00000360512:Q801K;ENSP00000360501:Q603K;ENSP00000277531:Q1195K;ENSP00000384610:Q1220K;ENSP00000400582:Q1186K	ENSP00000277531:Q1195K	Q	-	1	0	PNPLA7	139476302	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.372000	0.97165	2.126000	0.65437	0.462000	0.41574	CAG	.		0.682	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1	NM_152286	
OTC	5009	bcgsc.ca	37	X	38260574	38260574	+	Missense_Mutation	SNP	C	C	A			TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chrX:38260574C>A	ENST00000039007.4	+	5	585	c.433C>A	c.(433-435)Caa>Aaa	p.Q145K	OTC_ENST00000488812.1_3'UTR|TM4SF2_ENST00000465127.1_Intron	NM_000531.5	NP_000522.3	P00480	OTC_HUMAN	ornithine carbamoyltransferase	145					ammonia homeostasis (GO:0097272)|arginine biosynthetic process (GO:0006526)|cellular nitrogen compound metabolic process (GO:0034641)|citrulline biosynthetic process (GO:0019240)|liver development (GO:0001889)|midgut development (GO:0007494)|ornithine catabolic process (GO:0006593)|protein homotrimerization (GO:0070207)|response to biotin (GO:0070781)|response to drug (GO:0042493)|response to insulin (GO:0032868)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|ornithine carbamoyltransferase activity (GO:0004585)|phosphate ion binding (GO:0042301)|phospholipid binding (GO:0005543)	p.Q145K(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22					L-Citrulline(DB00155)|L-Ornithine(DB00129)	AGTGTATAAACAATCAGATTT	0.403																																					p.Q145K		.											.	OTC-172	1	Substitution - Missense(1)	prostate(1)	c.C433A						.						108.0	81.0	90.0					X																	38260574		2202	4300	6502	SO:0001583	missense	5009	exon5			TATAAACAATCAG	K02100	CCDS14247.1	Xp21.1	2014-06-28			ENSG00000036473	ENSG00000036473	2.1.3.3		8512	protein-coding gene	gene with protein product		300461					Standard	NM_000531		Approved		uc004def.4	P00480	OTTHUMG00000022727	ENST00000039007.4:c.433C>A	X.37:g.38260574C>A	ENSP00000039007:p.Gln145Lys	111	5		168	15	NM_000531	0	0	0	0	0	A8K9P2|D3DWB0|Q3KNR1|Q6B0I1|Q9NYJ5	Missense_Mutation	SNP	ENST00000039007.4	37	CCDS14247.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.114759	0.77210	.	.	ENSG00000036473	ENST00000039007	D	0.98345	-4.88	5.97	5.97	0.96955	Aspartate/ornithine carbamoyltransferase, carbamoyl-P binding (1);	0.187966	0.64402	D	0.000019	D	0.97244	0.9099	M	0.72576	2.205	0.58432	D	0.999997	P	0.37525	0.598	B	0.32805	0.153	D	0.97447	1.0025	10	0.87932	D	0	-0.3779	19.371	0.94484	0.0:1.0:0.0:0.0	.	145	P00480	OTC_HUMAN	K	145	ENSP00000039007:Q145K	ENSP00000039007:Q145K	Q	+	1	0	OTC	38145518	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.440000	0.80464	2.527000	0.85204	0.600000	0.82982	CAA	.		0.403	OTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059006.2		
RAB40AL	282808	ucsc.edu;bcgsc.ca;mdanderson.org	37	X	102192303	102192303	+	Silent	SNP	G	G	T	rs150070913	byFrequency	TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chrX:102192303G>T	ENST00000218249.5	+	1	104	c.57G>T	c.(55-57)ctG>ctT	p.L19L	LL0XNC01-237H1.3_ENST00000413528.1_RNA	NM_001031834.1	NP_001027004.1	P0C0E4	RB40L_HUMAN	RAB40A, member RAS oncogene family-like	19					protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			endometrium(4)|large_intestine(2)|lung(3)|ovary(3)	12						AGTTCCTGCTGGTGGGCGACA	0.667													.|||	6	0.0015894	0.0045	0.0	3775	,	,		10027	0.0		0.0	False		,,,				2504	0.0				p.L19L		.											.	RAB40AL-92	0			c.G57T						.	G		9,3826		0,9,1623,571	45.0	56.0	53.0		57	-0.1	0.8	X	dbSNP_134	53	0,6728		0,0,2428,1872	no	coding-synonymous	RAB40AL	NM_001031834.1		0,9,4051,2443	TT,TG,GG,G		0.0,0.2347,0.0852		19/279	102192303	9,10554	2203	4300	6503	SO:0001819	synonymous_variant	282808	exon1			CCTGCTGGTGGGC	BC101169	CCDS35353.1	Xq22.2	2008-02-05			ENSG00000102128	ENSG00000102128			25410	protein-coding gene	gene with protein product	"""Ras like GTPase"""	300405					Standard	NM_001031834		Approved	RAR2, RLGP	uc004ejs.3	P0C0E4	OTTHUMG00000022084	ENST00000218249.5:c.57G>T	X.37:g.102192303G>T		249	2		410	91	NM_001031834	0	0	1	1	0	Q495H3	Silent	SNP	ENST00000218249.5	37	CCDS35353.1																																																																																			G|0.998;T|0.002		0.667	RAB40AL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057679.1	NM_001031834	
CSDE1	7812	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	115261240	115261241	+	Frame_Shift_Ins	INS	-	-	T			TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr1:115261240_115261241insT	ENST00000358528.4	-	19	2768_2769	c.2342_2343insA	c.(2341-2343)aacfs	p.N781fs	CSDE1_ENST00000369530.1_Frame_Shift_Ins_p.N796fs|CSDE1_ENST00000261443.5_Frame_Shift_Ins_p.N750fs|CSDE1_ENST00000339438.6_Frame_Shift_Ins_p.N750fs|CSDE1_ENST00000534699.1_Frame_Shift_Ins_p.N781fs|NRAS_ENST00000369535.4_5'Flank|CSDE1_ENST00000438362.2_Frame_Shift_Ins_p.N827fs|CSDE1_ENST00000483407.1_5'UTR|CSDE1_ENST00000530886.1_Frame_Shift_Ins_p.N651fs	NM_001007553.2	NP_001007554.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	781					male gonad development (GO:0008584)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|regulation of transcription, DNA-templated (GO:0006355)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATACCATTGAGTTATCTGGTCC	0.46																																					p.N827fs		.											.	CSDE1-227	0			c.2481_2482insA						.																																			SO:0001589	frameshift_variant	7812	exon20			CATTGAGTTATCT		CCDS30811.1, CCDS30812.1, CCDS44197.1, CCDS55626.1	1p13.2	2011-11-02			ENSG00000009307	ENSG00000009307			29905	protein-coding gene	gene with protein product	"""upstream of NRAS"""	191510				2204029, 10048485	Standard	NM_007158		Approved	D1S155E, UNR	uc001efi.3	O75534	OTTHUMG00000012060	ENST00000358528.4:c.2343dupA	1.37:g.115261242_115261242dupT	ENSP00000351329:p.Asn781fs	95	0		82	35	NM_001242891	0	0	0	0	0	A8K281|E9PGZ0|G5E9Q2|O94961|Q5TF04|Q5TF05|Q68DF1|Q68DI9|Q9Y2S4	Frame_Shift_Ins	INS	ENST00000358528.4	37	CCDS30812.1																																																																																			.		0.460	CSDE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033397.1	NM_007158	
KCNN3	3782	broad.mit.edu	37	1	154842199	154842200	+	In_Frame_Ins	INS	-	-	GCTGCTGCTGCT	rs56352724|rs3831942|rs367921715|rs58327065		TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr1:154842199_154842200insGCTGCTGCTGCT	ENST00000271915.4	-	1	556_557	c.241_242insAGCAGCAGCAGC	c.(241-243)cca>cAGCAGCAGCAGCca	p.80_81insQQQQ	KCNN3_ENST00000358505.2_5'Flank	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	80	Gln-rich.		Missing.		potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)	p.Q80_P81insQQ(2)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	GGGATGCGGTGgctgctgctgc	0.698																																					p.P81delinsQQQQP		.											.	KCNN3-91	2	Insertion - In frame(2)	prostate(2)	c.242_243insAGCAGCAGCAGC						.																																			SO:0001652	inframe_insertion	3782	exon1			TGCGGTGGCTGCT	AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.230_241dupAGCAGCAGCAGC	1.37:g.154842199_154842200insGCTGCTGCTGCT	ENSP00000271915:p.Gln77_Gln80dup	27	0		39	12	NM_001204087	0	0	0	0	0	B1ANX0|O43517|Q86VF9|Q8WXG7	In_Frame_Ins	INS	ENST00000271915.4	37	CCDS30880.1																																																																																			.		0.698	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3	NM_002249	
KDM6B	23135	broad.mit.edu	37	17	7750177	7750178	+	In_Frame_Ins	INS	-	-	ACCACC	rs375218857|rs61462443		TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10			-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr17:7750177_7750178insACCACC	ENST00000448097.2	+	9	1083_1084	c.752_753insACCACC	c.(751-756)ttacca>ttACCACCacca	p.264_265insPP	KDM6B_ENST00000254846.5_In_Frame_Ins_p.264_265insPP			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	264	Pro-rich.				cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						ccaccaccattaccaccaccac	0.614																																					p.L251delinsLPP		.											.	KDM6B-205	0			c.752_753insACCACC						.																																			SO:0001652	inframe_insertion	23135	exon9			CACCATTACCACC	AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"""Chromatin-modifying enzymes / K-demethylases"""	29012	protein-coding gene	gene with protein product		611577	"""jumonji domain containing 3"", ""jumonji domain containing 3, histone lysine demethylase"""	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.783_788dupACCACC	17.37:g.7750178_7750183dupACCACC	ENSP00000412513:p.Pro263_Pro264dup	11	0		8	2	NM_001080424	0	0	0	0	0	C9IZ40|Q96G33	In_Frame_Ins	INS	ENST00000448097.2	37																																																																																				.		0.614	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	XM_043272	
PRKACA	5566	hgsc.bcm.edu	37	19	14204529	14204530	+	In_Frame_Ins	INS	-	-	CTTGGTGAGATCTACCTGCAGGAGGTTCCGCAGCAGGTC			TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr19:14204529_14204530insCTTGGTGAGATCTACCTGCAGGAGGTTCCGCAGCAGGTC	ENST00000308677.4	-	9	1036_1037	c.840_841insGACCTGCTGCGGAACCTCCTGCAGGTAGATCTCACCAAG	c.(838-843)aagcgc>aagGACCTGCTGCGGAACCTCCTGCAGGTAGATCTCACCAAGcgc	p.279_280insKDLLRNLLQVDLT	PRKACA_ENST00000589994.1_In_Frame_Ins_p.271_272insKDLLRNLLQVDLT|PRKACA_ENST00000590853.1_Intron|PRKACA_ENST00000350356.3_5'UTR|SAMD1_ENST00000541938.1_5'Flank	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN	protein kinase, cAMP-dependent, catalytic, alpha	279	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|carbohydrate metabolic process (GO:0005975)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to glucagon stimulus (GO:0071377)|cellular response to glucose stimulus (GO:0071333)|cellular response to parathyroid hormone stimulus (GO:0071374)|cytosolic calcium ion homeostasis (GO:0051480)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm formation (GO:0001707)|mitotic cell cycle (GO:0000278)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of protein export from nucleus (GO:0046827)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|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)|regulation of insulin secretion (GO:0050796)|regulation of osteoblast differentiation (GO:0045667)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein binding (GO:0043393)|regulation of protein processing (GO:0070613)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic transmission (GO:0050804)|regulation of tight junction assembly (GO:2000810)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|calcium channel complex (GO:0034704)|cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|motile cilium (GO:0031514)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|protein kinase A regulatory subunit binding (GO:0034237)|protein kinase binding (GO:0019901)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						TTCCCAAAGCGCTTGGTGAGAT	0.554																																					p.R281delinsDLLRNLLQVDLTKR		.											.	PRKACA-978	0			c.841_842insGACCTGCTGCGGAACCTCCTGCAGGTAGATCTCACCAAG						.																																			SO:0001652	inframe_insertion	5566	exon9			CAAAGCGCTTGGT		CCDS12304.1, CCDS12305.1	19p13.1	2012-10-02				ENSG00000072062	2.7.11.1		9380	protein-coding gene	gene with protein product		601639				8884279	Standard	NM_002730		Approved	PKACa	uc002myc.3	P17612		ENST00000308677.4:c.802_840dupGACCTGCTGCGGAACCTCCTGCAGGTAGATCTCACCAAG	19.37:g.14204529_14204530insCTTGGTGAGATCTACCTGCAGGAGGTTCCGCAGCAGGTC	ENSP00000309591:p.Lys267_Thr279dup	170	0		127	0	NM_002730	0	0	0	0	0	Q32P54|Q9H2Y0|Q9NRB4|Q9NRH9	In_Frame_Ins	INS	ENST00000308677.4	37	CCDS12304.1																																																																																			.		0.554	PRKACA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459004.1	NM_002730	
KNDC1	85442	hgsc.bcm.edu	37	10	135012429	135012430	+	Missense_Mutation	DNP	TT	TT	AC	rs386749477|rs3008390|rs3008389	byFrequency	TCGA-OR-A5JT-01A-11D-A29I-10	TCGA-OR-A5JT-10A-01D-A29L-10	TT	TT	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ac406c92-67af-4d6c-a981-610bd6c674bd	1795e496-6515-464d-9d01-7d391fc0a20e	g.chr10:135012429_135012430TT>AC	ENST00000304613.3	+	14	2438_2439	c.2417_2418TT>AC	c.(2416-2418)gTT>gAC	p.V806D	KNDC1_ENST00000368571.2_Missense_Mutation_p.V741D|KNDC1_ENST00000368572.2_Missense_Mutation_p.V806D			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	806	Pro-rich.			V -> D (in Ref. 1; BAD12625). {ECO:0000305}.	cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CCACCTGGAGTTGCTTCCGGGG	0.748																																					p.V806D		.											.	KNDC1-229	0			c.T2418C						.																																			SO:0001583	missense	85442	exon14			TGGAGTTGCTTCC	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"""RasGEF domain family, member 2"""	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	Exception_encountered	10.37:g.135012429_135012430delinsAC	ENSP00000304437:p.Val806Asp	0	0		4	0	NM_152643	0	0	0	0	0	B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	DNP	ENST00000304613.3	37	CCDS7674.1																																																																																			T|0.470;C|0.530		0.748	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643	
