#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_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_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	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_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_ORegAnno_bin	i_Start_position_hg18	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_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
ADAP1	11033	hgsc.bcm.edu	37	7	943860	943860	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr7:943860A>G	ENST00000265846.5	-	6	770	c.551T>C	c.(550-552)tTc>tCc	p.F184S	ADAP1_ENST00000539900.1_Missense_Mutation_p.F195S|ADAP1_ENST00000449296.2_Missense_Mutation_p.F112S|ADAP1_ENST00000463358.1_5'UTR	NM_001284308.1|NM_001284309.1|NM_001284311.1|NM_006869.2	NP_001271237.1|NP_001271238.1|NP_001271240.1|NP_006860	O75689	ADAP1_HUMAN	ArfGAP with dual PH domains 1	184	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cell surface receptor signaling pathway (GO:0007166)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF GTPase activity (GO:0032312)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	6						GGCCGGCTGGAAGGTGGCGTT	0.612																																																	0			7											148.0	121.0	130.0					7																	943860		2202	4297	6499	910386	SO:0001583	missense	11033			AJ006422	CCDS5318.1, CCDS64576.1, CCDS64577.1, CCDS75558.1	7p22.3	2013-01-10	2008-09-22	2008-09-22	ENSG00000105963	ENSG00000105963		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	16486	protein-coding gene	gene with protein product		608114	"""centaurin, alpha 1"""	CENTA1		10333475	Standard	NM_006869		Approved	GCS1L	uc003sjo.4	O75689	OTTHUMG00000023380	ENST00000265846.5:c.551T>C	7.37:g.943860A>G	ENSP00000265846:p.Phe184Ser		910386	A4D2Q2|B3KRZ4|B4DVA6|F6XZ68|H7C2Q4	Missense_Mutation	SNP	ENST00000265846.5	37	CCDS5318.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	19.78|19.78	3.891149|3.891149	0.72524|0.72524	.|.	.|.	ENSG00000105963|ENSG00000105963	ENST00000265846;ENST00000449296;ENST00000449929;ENST00000539900;ENST00000453175|ENST00000446141;ENST00000437486;ENST00000453823	T;T;T|.	0.28255|.	1.62;1.62;1.62|.	4.29|4.29	4.29|4.29	0.51040|0.51040	Pleckstrin homology-type (1);Pleckstrin homology domain (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78368|0.78368	0.4272|0.4272	M|M	0.87180|0.87180	2.865|2.865	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	0.983;1.0|.	T|T	0.81982|0.81982	-0.0683|-0.0683	10|5	0.42905|.	T|.	0.14|.	-30.6721|-30.6721	13.5666|13.5666	0.61822|0.61822	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	89;184|.	B4DUZ7;O75689|.	.;ADAP1_HUMAN|.	S|P	184;112;10;195;17|167;118;127	ENSP00000265846:F184S;ENSP00000407267:F112S;ENSP00000442682:F195S|.	ENSP00000265846:F184S|.	F|S	-|-	2|1	0|0	ADAP1|ADAP1	910386|910386	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.548000|0.548000	0.35241|0.35241	6.906000|6.906000	0.75719|0.75719	1.797000|1.797000	0.52628|0.52628	0.454000|0.454000	0.30748|0.30748	TTC|TCC		0.612	ADAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059701.2	NM_006869	
BRAT1	221927	hgsc.bcm.edu	37	7	2578974	2578974	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr7:2578974A>G	ENST00000340611.4	-	13	1865	c.1609T>C	c.(1609-1611)Ttc>Ctc	p.F537L	BRAT1_ENST00000473879.1_Intron	NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN	BRCA1-associated ATM activator 1	537					response to ionizing radiation (GO:0010212)	membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						GCGCATCTGAAGTCAGCCTGT	0.642																																																	0			7											25.0	26.0	26.0					7																	2578974		2203	4299	6502	2545500	SO:0001583	missense	221927			BC015632	CCDS5334.1	7p22.3	2011-03-22	2011-02-28	2011-03-22	ENSG00000106009	ENSG00000106009			21701	protein-coding gene	gene with protein product	"""BRCA1-associated protein required for ATM activation protein 1"""	614506	"""chromosome 7 open reading frame 27"""	C7orf27, BAAT1		16452482	Standard	NM_152743		Approved	MGC22916	uc003smi.3	Q6PJG6	OTTHUMG00000119091	ENST00000340611.4:c.1609T>C	7.37:g.2578974A>G	ENSP00000339637:p.Phe537Leu		2545500	A4D200|C9JY24|Q8IW85|Q8IZ43|Q8WVR8|Q96IV9|Q9H7J8|Q9UFA3	Missense_Mutation	SNP	ENST00000340611.4	37	CCDS5334.1	.	.	.	.	.	.	.	.	.	.	A	16.96	3.266857	0.59540	.	.	ENSG00000106009	ENST00000340611	T	0.34667	1.35	5.74	5.74	0.90152	Armadillo-like helical (1);Armadillo-type fold (1);	0.099224	0.64402	D	0.000002	T	0.62282	0.2415	M	0.79475	2.455	0.54753	D	0.999987	D	0.76494	0.999	D	0.80764	0.994	T	0.66709	-0.5855	10	0.72032	D	0.01	-32.5052	16.0213	0.80499	1.0:0.0:0.0:0.0	.	537	Q6PJG6	BRAT1_HUMAN	L	537	ENSP00000339637:F537L	ENSP00000339637:F537L	F	-	1	0	BRAT1	2545500	1.000000	0.71417	0.555000	0.28281	0.008000	0.06430	5.692000	0.68256	2.190000	0.69967	0.459000	0.35465	TTC		0.642	BRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239305.2	NM_152743	
AP5Z1	9907	hgsc.bcm.edu	37	7	4827330	4827330	+	Silent	SNP	C	C	T	rs17135128	byFrequency	TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr7:4827330C>T	ENST00000348624.4	+	11	1471	c.1377C>T	c.(1375-1377)gaC>gaT	p.D459D	MIR4656_ENST00000579503.1_RNA|AP5Z1_ENST00000401897.1_Silent_p.D459D	NM_014855.2	NP_055670.1	O43299	AP5Z1_HUMAN	adaptor-related protein complex 5, zeta 1 subunit	459					cell death (GO:0008219)|double-strand break repair via homologous recombination (GO:0000724)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-5 adaptor complex (GO:0044599)|AP-type membrane coat adaptor complex (GO:0030119)|cytoplasm (GO:0005737)|nucleus (GO:0005634)											CCCTGGTGGACGCTGGCACAG	0.692													C|||	408	0.0814696	0.0401	0.036	5008	,	,		15883	0.0496		0.0736	False		,,,				2504	0.2106																0			7						C		189,3981		5,179,1901	25.0	31.0	29.0		1377	-3.7	0.0	7	dbSNP_123	29	532,7742		19,494,3624	no	coding-synonymous	KIAA0415	NM_014855.2		24,673,5525	TT,TC,CC		6.4298,4.5324,5.794		459/808	4827330	721,11723	2085	4137	6222	4793856	SO:0001819	synonymous_variant	9907			AB007875	CCDS47528.1	7p22.1	2012-03-20	2012-03-20	2012-03-20	ENSG00000242802	ENSG00000242802			22197	protein-coding gene	gene with protein product		613653	"""KIAA0415"""	KIAA0415		20613862, 22022230	Standard	NM_014855		Approved	SPG48, zeta	uc003sne.3	O43299	OTTHUMG00000151754	ENST00000348624.4:c.1377C>T	7.37:g.4827330C>T			4793856	Q8N3X2|Q96H80	Silent	SNP	ENST00000348624.4	37	CCDS47528.1																																																																																				0.692	AP5Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323771.1		
SUN3	256979	hgsc.bcm.edu	37	7	48046774	48046774	+	Silent	SNP	C	C	T	rs150352113	byFrequency	TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr7:48046774C>T	ENST00000297325.4	-	5	639	c.480G>A	c.(478-480)ccG>ccA	p.P160P	SUN3_ENST00000453192.2_Silent_p.P148P|SUN3_ENST00000395572.2_Silent_p.P160P|SUN3_ENST00000412142.1_Silent_p.P60P	NM_001030019.1	NP_001025190.1	Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 3	160						integral component of membrane (GO:0016021)|SUN-KASH complex (GO:0034993)				central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTGTGTGGTCCGGGTCCTCCA	0.552													C|||	2	0.000399361	0.0	0.0014	5008	,	,		16503	0.001		0.0	False		,,,				2504	0.0																0			7						C	,	1,4405	2.1+/-5.4	0,1,2202	102.0	100.0	100.0		480,480	0.5	0.0	7	dbSNP_134	100	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	SUN3	NM_001030019.1,NM_152782.3	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	160/358,160/358	48046774	1,13005	2203	4300	6503	48013299	SO:0001819	synonymous_variant	0			AF429967	CCDS34636.1, CCDS64647.1	7p12.3	2010-01-27	2010-01-27	2010-01-27	ENSG00000164744	ENSG00000164744			22429	protein-coding gene	gene with protein product			"""Sad1 and UNC84 domain containing 1"""	SUNC1			Standard	NM_001284350		Approved	MGC33329	uc003tof.3	Q8TAQ9	OTTHUMG00000155646	ENST00000297325.4:c.480G>A	7.37:g.48046774C>T			48013299	A4D2F3|B4DXK1|D3DVM3|E7EWC8|Q4F965|Q7Z4U8	Silent	SNP	ENST00000297325.4	37	CCDS34636.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	1	0.0017482517482517483	0	0.0	C	3.303	-0.142565	0.06669	2.27E-4	0.0	ENSG00000164744	ENST00000453071	.	.	.	5.45	0.472	0.16758	.	.	.	.	.	T	0.34513	0.0900	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.29488	-1.0010	4	.	.	.	.	9.2277	0.37416	0.0:0.6636:0.0:0.3364	.	.	.	.	Q	80	.	.	R	-	2	0	SUN3	48013299	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.166000	0.09954	0.268000	0.21939	-1.063000	0.02288	CGG		0.552	SUN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340962.1	NM_152782	
RBM48	84060	hgsc.bcm.edu	37	7	92158147	92158147	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr7:92158147A>G	ENST00000265732.5	+	1	61	c.20A>G	c.(19-21)gAg>gGg	p.E7G	RBM48_ENST00000481551.1_Missense_Mutation_p.E7G|PEX1_ENST00000248633.4_5'Flank|PEX1_ENST00000438045.1_5'Flank|PEX1_ENST00000428214.1_5'Flank	NM_032120.2	NP_115496.2	Q5RL73	RBM48_HUMAN	RNA binding motif protein 48	7						nucleus (GO:0005634)	RNA binding (GO:0003723)										AGCGGCGGGGAGCTAGGGAGT	0.557																																																	0			7											61.0	65.0	64.0					7																	92158147		1963	4135	6098	91996083	SO:0001583	missense	84060			AL136619	CCDS43615.1	7q21.2	2013-02-12	2011-12-09	2011-12-09	ENSG00000127993	ENSG00000127993		"""RNA binding motif (RRM) containing"""	21785	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 64"""	C7orf64			Standard	NM_032120		Approved	DKFZp564O0523, HSPC304	uc003ulz.3	Q5RL73	OTTHUMG00000159535	ENST00000265732.5:c.20A>G	7.37:g.92158147A>G	ENSP00000265732:p.Glu7Gly		91996083	B7Z2K5|B7ZL51|Q5H9T2|Q8IYW7|Q96NS0|Q9H0V7	Missense_Mutation	SNP	ENST00000265732.5	37	CCDS43615.1	.	.	.	.	.	.	.	.	.	.	A	14.89	2.669555	0.47677	.	.	ENSG00000127993	ENST00000509224;ENST00000265732;ENST00000481551;ENST00000450580	.	.	.	4.77	4.77	0.60923	.	0.865247	0.10543	N	0.662413	T	0.27313	0.0670	L	0.44542	1.39	0.09310	N	1	B;B;B	0.31125	0.255;0.003;0.309	B;B;B	0.27608	0.037;0.003;0.081	T	0.27226	-1.0080	9	0.54805	T	0.06	-3.2874	2.9757	0.05936	0.6301:0.1482:0.0792:0.1424	.	7;7;7	B4DGJ6;B7Z2K5;Q5RL73	.;.;CG064_HUMAN	G	9;7;7;7	.	ENSP00000265732:E7G	E	+	2	0	C7orf64	91996083	0.000000	0.05858	0.005000	0.12908	0.018000	0.09664	0.745000	0.26259	2.127000	0.65507	0.459000	0.35465	GAG		0.557	RBM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356076.1	NM_032120	
PILRB	29990	hgsc.bcm.edu	37	7	99955934	99955934	+	Silent	SNP	G	G	C			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr7:99955934G>C	ENST00000452089.1	+	6	1068	c.9G>C	c.(7-9)cgG>cgC	p.R3R	PILRB_ENST00000610247.1_Silent_p.R3R|PILRB_ENST00000444073.1_Silent_p.R3R|PILRB_ENST00000448382.1_Silent_p.R125R|STAG3L5P-PVRIG2P-PILRB_ENST00000310771.4_RNA|PILRB_ENST00000609309.1_Silent_p.R3R			Q9UKJ0	PILRB_HUMAN	paired immunoglobin-like type 2 receptor beta	3					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)				endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCATGGGTCGGCCCCTGCTGC	0.662																																																	0			7											57.0	69.0	65.0					7																	99955934		2203	4300	6503	99793870	SO:0001819	synonymous_variant	29990			AF161081, AJ400845	CCDS43622.1	7q22.1	2014-05-16			ENSG00000121716	ENSG00000121716		"""Immunoglobulin superfamily / V-set domain containing"""	18297	protein-coding gene	gene with protein product		605342				10660620	Standard	NM_178238		Approved	FDFACT1, FDFACT2	uc022ail.1	Q9UKJ0	OTTHUMG00000155363	ENST00000452089.1:c.9G>C	7.37:g.99955934G>C			99793870	Q69YF9|Q9HBS0	Silent	SNP	ENST00000452089.1	37	CCDS43622.1																																																																																				0.662	PILRB-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339923.2	NM_178238	
AGFG2	3268	hgsc.bcm.edu	37	7	100148130	100148130	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr7:100148130A>G	ENST00000300176.4	+	3	549	c.427A>G	c.(427-429)Aga>Gga	p.R143G	AGFG2_ENST00000474713.1_3'UTR|AGFG2_ENST00000262935.4_Missense_Mutation_p.R143G	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	143	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				regulation of ARF GTPase activity (GO:0032312)	membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TGAGAAGAAGAGATGGTAAGG	0.418																																																	0			7											85.0	85.0	85.0					7																	100148130		2203	4300	6503	99986066	SO:0001583	missense	3268			AF015042	CCDS5697.1	7q22.1	2008-09-22	2008-09-22	2008-09-22	ENSG00000106351	ENSG00000106351		"""ADP-ribosylation factor GTPase activating proteins"""	5177	protein-coding gene	gene with protein product		604019	"""HIV-1 Rev binding protein-like"""	HRBL		9799793	Standard	XM_005250306		Approved	RABR	uc003uvf.3	O95081	OTTHUMG00000156029	ENST00000300176.4:c.427A>G	7.37:g.100148130A>G	ENSP00000300176:p.Arg143Gly		99986066	O75429|Q96AB9|Q96GL4	Missense_Mutation	SNP	ENST00000300176.4	37	CCDS5697.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.022174	0.75275	.	.	ENSG00000106351	ENST00000300176;ENST00000262935	T;T	0.45668	0.89;0.89	6.14	3.8	0.43715	.	0.000000	0.85682	D	0.000000	T	0.66177	0.2763	M	0.88105	2.93	0.36632	D	0.876369	D;D	0.63046	0.992;0.991	P;D	0.66602	0.859;0.945	T	0.77046	-0.2733	10	0.87932	D	0	-17.6728	11.6632	0.51358	0.6685:0.3315:0.0:0.0	.	143;143	O95081-2;O95081	.;AGFG2_HUMAN	G	143	ENSP00000300176:R143G;ENSP00000262935:R143G	ENSP00000262935:R143G	R	+	1	2	AGFG2	99986066	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.598000	0.36740	1.107000	0.41642	0.529000	0.55759	AGA		0.418	AGFG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342769.1	NM_006076	
PPP1R3A	5506	hgsc.bcm.edu	37	7	113517815	113517815	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr7:113517815T>C	ENST00000284601.3	-	4	3400	c.3332A>G	c.(3331-3333)gAa>gGa	p.E1111G		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	1111					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TCTACCCTCTTCCCAGGATAG	0.353																																																	0			7											91.0	91.0	91.0					7																	113517815		2203	4299	6502	113305051	SO:0001583	missense	5506			AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.3332A>G	7.37:g.113517815T>C	ENSP00000284601:p.Glu1111Gly		113305051	A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	T	16.31	3.085961	0.55861	.	.	ENSG00000154415	ENST00000284601	T	0.27402	1.67	5.85	3.36	0.38483	.	0.576432	0.16992	N	0.191244	T	0.51466	0.1676	M	0.72894	2.215	0.33582	D	0.59999	D	0.89917	1.0	D	0.85130	0.997	T	0.62025	-0.6941	10	0.87932	D	0	-2.5981	9.0262	0.36232	0.1247:0.0:0.1308:0.7445	.	1111	Q16821	PPR3A_HUMAN	G	1111	ENSP00000284601:E1111G	ENSP00000284601:E1111G	E	-	2	0	PPP1R3A	113305051	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.710000	0.47169	0.404000	0.25506	0.528000	0.53228	GAA		0.353	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711	
CADPS2	93664	hgsc.bcm.edu	37	7	122255279	122255279	+	Missense_Mutation	SNP	T	T	G			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr7:122255279T>G	ENST00000449022.2	-	6	1198	c.1179A>C	c.(1177-1179)gaA>gaC	p.E393D	CADPS2_ENST00000334010.7_Missense_Mutation_p.E393D|CADPS2_ENST00000412584.2_Missense_Mutation_p.E393D|CADPS2_ENST00000313070.7_Missense_Mutation_p.E393D	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	393	C2.				cellular response to starvation (GO:0009267)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasmic membrane-bounded vesicle (GO:0016023)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						GTTTTTCTCCTTCCACTTCCA	0.373																																																	0			7											74.0	69.0	71.0					7																	122255279		1872	4100	5972	122042515	SO:0001583	missense	93664				CCDS47691.1, CCDS55158.1	7q31.32	2013-01-10	2008-08-28		ENSG00000081803	ENSG00000081803		"""Pleckstrin homology (PH) domain containing"""	16018	protein-coding gene	gene with protein product		609978	"""Ca++-dependent activator protein for secretion 2"""				Standard	NM_017954		Approved		uc010lkq.3	Q86UW7	OTTHUMG00000157093	ENST00000449022.2:c.1179A>C	7.37:g.122255279T>G	ENSP00000398481:p.Glu393Asp		122042515	A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Missense_Mutation	SNP	ENST00000449022.2	37	CCDS55158.1	.	.	.	.	.	.	.	.	.	.	T	16.88	3.245889	0.59103	.	.	ENSG00000081803	ENST00000313070;ENST00000334010;ENST00000420900;ENST00000545465;ENST00000412584;ENST00000449022	T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4	5.59	3.27	0.37495	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.64962	0.2646	N	0.20401	0.57	0.40204	D	0.977544	B;D;D	0.64830	0.04;0.994;0.99	B;D;D	0.73380	0.016;0.97;0.98	T	0.60826	-0.7186	10	0.25106	T	0.35	-21.1829	9.2601	0.37608	0.0:0.2082:0.0:0.7918	.	393;393;393	Q86UW7-2;Q86UW7;Q86UW7-3	.;CAPS2_HUMAN;.	D	393;393;393;360;393;393	ENSP00000325581:E393D;ENSP00000333940:E393D;ENSP00000400401:E393D;ENSP00000398481:E393D	ENSP00000325581:E393D	E	-	3	2	CADPS2	122042515	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.360000	0.34125	0.972000	0.38314	0.533000	0.62120	GAA		0.373	CADPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347414.2	NM_017954	
AKR1B1	231	hgsc.bcm.edu	37	7	134136461	134136461	+	Silent	SNP	G	G	A			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr7:134136461G>A	ENST00000285930.4	-	2	190	c.111C>T	c.(109-111)gaC>gaT	p.D37D	AKR1B1_ENST00000489022.1_5'UTR	NM_001628.2	NP_001619.1	P15121	ALDR_HUMAN	aldo-keto reductase family 1, member B1 (aldose reductase)	37					C21-steroid hormone biosynthetic process (GO:0006700)|carbohydrate metabolic process (GO:0005975)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|response to stress (GO:0006950)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|aldo-keto reductase (NADP) activity (GO:0004033)|electron carrier activity (GO:0009055)|glyceraldehyde oxidoreductase activity (GO:0043795)			kidney(1)|large_intestine(5)|lung(2)|ovary(3)|prostate(1)|skin(2)	14					Sulindac(DB00605)	GGTACCCGACGTCAATGGCCA	0.592																																																	0			7											70.0	56.0	61.0					7																	134136461		2203	4300	6503	133787001	SO:0001819	synonymous_variant	231			J04795	CCDS5831.1	7q35	2010-04-08			ENSG00000085662	ENSG00000085662	1.1.1.21	"""Aldo-keto reductases"""	381	protein-coding gene	gene with protein product		103880		ALDR1		1901827	Standard	NM_001628		Approved	AR	uc003vrp.1	P15121	OTTHUMG00000155322	ENST00000285930.4:c.111C>T	7.37:g.134136461G>A			133787001	B2R8N3|Q5U031|Q6FGA4|Q6ICP2|Q9BS21|Q9UCI9	Silent	SNP	ENST00000285930.4	37	CCDS5831.1																																																																																				0.592	AKR1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339448.2	NM_001628	
CDK5	1020	hgsc.bcm.edu	37	7	150752165	150752165	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr7:150752165C>T	ENST00000485972.1	-	9	1280	c.599G>A	c.(598-600)cGg>cAg	p.R200Q	CDK5_ENST00000297518.4_Missense_Mutation_p.R168Q	NM_004935.3	NP_004926.1	Q00535	CDK5_HUMAN	cyclin-dependent kinase 5	200	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|behavioral response to cocaine (GO:0048148)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|central nervous system neuron development (GO:0021954)|cerebellar cortex formation (GO:0021697)|corpus callosum development (GO:0022038)|cortical actin cytoskeleton organization (GO:0030866)|dendrite morphogenesis (GO:0048813)|embryo development (GO:0009790)|hippocampus development (GO:0021766)|intracellular protein transport (GO:0006886)|layer formation in cerebral cortex (GO:0021819)|motor neuron axon guidance (GO:0008045)|negative regulation of axon extension (GO:0030517)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron death (GO:1901215)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of proteolysis (GO:0045861)|negative regulation of synaptic plasticity (GO:0031914)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|nucleocytoplasmic transport (GO:0006913)|oligodendrocyte differentiation (GO:0048709)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphorylation (GO:0016310)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein targeting to membrane (GO:0090314)|protein autophosphorylation (GO:0046777)|protein localization to synapse (GO:0035418)|receptor catabolic process (GO:0032801)|receptor clustering (GO:0043113)|regulated secretory pathway (GO:0045055)|regulation of apoptotic process (GO:0042981)|regulation of cell cycle arrest (GO:0071156)|regulation of cell migration (GO:0030334)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|rhythmic process (GO:0048511)|Schwann cell development (GO:0014044)|sensory perception of pain (GO:0019233)|serine phosphorylation of STAT3 protein (GO:0033136)|skeletal muscle tissue development (GO:0007519)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle exocytosis (GO:0016079)|visual learning (GO:0008542)	axon (GO:0030424)|cell junction (GO:0030054)|cyclin-dependent protein kinase 5 holoenzyme complex (GO:0016533)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|filopodium (GO:0030175)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activator activity (GO:0030549)|ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|ErbB-2 class receptor binding (GO:0005176)|ErbB-3 class receptor binding (GO:0043125)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			central_nervous_system(1)|endometrium(2)|lung(5)|urinary_tract(1)	9		Breast(660;0.159)|Ovarian(593;0.182)	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.008)|Lung(243;0.00942)|BRCA - Breast invasive adenocarcinoma(188;0.242)		AAAAAGAGGCCGCCCAGCATT	0.567																																																	0			7											44.0	47.0	46.0					7																	150752165		1969	4148	6117	150383098	SO:0001583	missense	1020			X66364	CCDS47748.1, CCDS55184.1	7q36	2011-11-08			ENSG00000164885	ENSG00000164885		"""Cyclin-dependent kinases"""	1774	protein-coding gene	gene with protein product		123831				8275715, 1639063	Standard	NM_001164410		Approved	PSSALRE	uc003wir.2	Q00535	OTTHUMG00000158414	ENST00000485972.1:c.599G>A	7.37:g.150752165C>T	ENSP00000419782:p.Arg200Gln		150383098	A1XKG3	Missense_Mutation	SNP	ENST00000485972.1	37	CCDS47748.1	.	.	.	.	.	.	.	.	.	.	C	19.19	3.780274	0.70222	.	.	ENSG00000164885	ENST00000485972;ENST00000297518	T;T	0.66280	-0.2;-0.2	5.06	5.06	0.68205	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.52224	0.1721	L	0.35414	1.06	0.58432	D	0.999997	B;B	0.23990	0.095;0.062	B;B	0.16289	0.015;0.015	T	0.51647	-0.8679	10	0.52906	T	0.07	-18.7595	15.9676	0.79985	0.0:1.0:0.0:0.0	.	168;200	Q00535-2;Q00535	.;CDK5_HUMAN	Q	200;168	ENSP00000419782:R200Q;ENSP00000297518:R168Q	ENSP00000297518:R168Q	R	-	2	0	CDK5	150383098	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.341000	0.72977	2.619000	0.88677	0.655000	0.94253	CGG		0.567	CDK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350965.3		
FASTK	10922	hgsc.bcm.edu	37	7	150774263	150774263	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr7:150774263A>G	ENST00000297532.6	-	8	1429	c.1352T>C	c.(1351-1353)tTc>tCc	p.F451S	RP11-148K1.12_ENST00000485974.1_RNA|FASTK_ENST00000353841.2_Missense_Mutation_p.F310S|FASTK_ENST00000489884.1_5'UTR|FASTK_ENST00000482571.1_Missense_Mutation_p.F424S|FASTK_ENST00000540185.1_3'UTR	NM_006712.4	NP_006703.1	Q14296	FASTK_HUMAN	Fas-activated serine/threonine kinase	451					apoptotic signaling pathway (GO:0097190)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|Fas-activated serine/threonine kinase activity (GO:0033867)|protein serine/threonine kinase activity (GO:0004674)			lung(4)|stomach(2)	6			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)		GTATGGCAGGAAGGGGTCCTG	0.682																																																	0			7											42.0	48.0	46.0					7																	150774263		2203	4299	6502	150405196	SO:0001583	missense	10922				CCDS5918.1, CCDS5919.1, CCDS59088.1	7q35	2006-07-06			ENSG00000164896	ENSG00000164896			24676	protein-coding gene	gene with protein product		606965				7544399, 15572676	Standard	NM_006712		Approved	FAST	uc003wix.2	Q14296	OTTHUMG00000158694	ENST00000297532.6:c.1352T>C	7.37:g.150774263A>G	ENSP00000297532:p.Phe451Ser		150405196	A8K867|F8VTW9|Q59EM8|Q8IVA0	Missense_Mutation	SNP	ENST00000297532.6	37	CCDS5918.1	.	.	.	.	.	.	.	.	.	.	A	12.66	2.003311	0.35320	.	.	ENSG00000164896	ENST00000483105;ENST00000297530;ENST00000353841;ENST00000297532;ENST00000482571	T;T;T	0.29917	1.93;1.91;1.55	4.81	4.81	0.61882	.	0.264761	0.31697	N	0.007217	T	0.24005	0.0581	N	0.19112	0.55	0.80722	D	1	P;B;B	0.46220	0.874;0.01;0.03	P;B;B	0.47251	0.542;0.006;0.009	T	0.02713	-1.1120	10	0.62326	D	0.03	-13.386	7.2093	0.25925	0.893:0.0:0.107:0.0	.	424;310;451	F8VTW9;Q8IVA0;Q14296	.;.;FASTK_HUMAN	S	451;451;310;451;424	ENSP00000324817:F310S;ENSP00000297532:F451S;ENSP00000418516:F424S	ENSP00000297530:F451S	F	-	2	0	FASTK	150405196	0.815000	0.29118	0.999000	0.59377	0.777000	0.43975	1.423000	0.34837	2.107000	0.64212	0.459000	0.35465	TTC		0.682	FASTK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351832.2	NM_006712	
TBC1D20	128637	hgsc.bcm.edu	37	20	428640	428640	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr20:428640A>G	ENST00000354200.4	-	2	296	c.149T>C	c.(148-150)cTt>cCt	p.L50P	Y_RNA_ENST00000384070.1_RNA	NM_144628.2	NP_653229.1	Q96BZ9	TBC20_HUMAN	TBC1 domain family, member 20	50					acrosome assembly (GO:0001675)|cargo loading into COPII-coated vesicle (GO:0090110)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|lens fiber cell morphogenesis (GO:0070309)|lipid particle organization (GO:0034389)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|seminiferous tubule development (GO:0072520)|virion assembly (GO:0019068)	endoplasmic reticulum membrane (GO:0005789)|integral component of Golgi membrane (GO:0030173)|nuclear membrane (GO:0031965)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(17;0.228)|Breast(17;0.231)				CATGCGTCTAAGGGCAGCCAC	0.493																																																	0			20											170.0	128.0	143.0					20																	428640		2203	4300	6503	376640	SO:0001583	missense	128637			AK055573	CCDS13002.1	20p13	2013-07-10	2005-01-05	2005-01-05	ENSG00000125875	ENSG00000125875			16133	protein-coding gene	gene with protein product		611663	"""chromosome 20 open reading frame 140"""	C20orf140		17901050	Standard	XM_005260661		Approved	dJ852M4.2	uc002wds.3	Q96BZ9	OTTHUMG00000031637	ENST00000354200.4:c.149T>C	20.37:g.428640A>G	ENSP00000346139:p.Leu50Pro		376640	A8K6I3|B9A6M1|Q5JWQ7|Q6ZSY8|Q96NE1|Q9BYM7|Q9H140	Missense_Mutation	SNP	ENST00000354200.4	37	CCDS13002.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.379330	0.82682	.	.	ENSG00000125875	ENST00000354200;ENST00000246077	T	0.04654	3.58	5.24	5.24	0.73138	Rab-GAP/TBC domain (1);	0.000000	0.85682	D	0.000000	T	0.19604	0.0471	M	0.67397	2.05	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.00142	-1.1997	10	0.87932	D	0	-16.212	14.4922	0.67660	1.0:0.0:0.0:0.0	.	50	Q96BZ9	TBC20_HUMAN	P	50;75	ENSP00000346139:L50P	ENSP00000246077:L75P	L	-	2	0	TBC1D20	376640	1.000000	0.71417	0.938000	0.37757	0.984000	0.73092	8.699000	0.91316	2.201000	0.70794	0.528000	0.53228	CTT		0.493	TBC1D20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251397.2	NM_144628	
PRNP	5621	hgsc.bcm.edu	37	20	4680094	4680094	+	Silent	SNP	C	C	T	rs138688873|rs112637437	byFrequency	TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr20:4680094C>T	ENST00000379440.4	+	2	515	c.228C>T	c.(226-228)ccC>ccT	p.P76P	PRNP_ENST00000430350.2_Silent_p.P76P	NM_000311.3|NM_001080121.1|NM_001080122.1|NM_001080123.1|NM_001271561.1|NM_183079.2	NP_000302.1|NP_001073590.1|NP_001073591.1|NP_001073592.1|NP_001258490.1|NP_898902.1	F7VJQ1	APRIO_HUMAN	prion protein	7						integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)		p.P76P(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	14						GGGGGCAGCCCCATGGTGGTG	0.657													C|||	263	0.052516	0.1755	0.0274	5008	,	,		18121	0.001		0.0099	False		,,,				2504	0.001																1	Substitution - coding silent(1)	lung(1)	20						C	,,,,	28,4346		0,28,2159	20.0	21.0	21.0		228,228,228,228,228	-3.2	0.6	20	dbSNP_132	21	7,8561		0,7,4277	yes	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PRNP	NM_000311.3,NM_001080121.1,NM_001080122.1,NM_001080123.1,NM_183079.2	,,,,	0,35,6436	TT,TC,CC		0.0817,0.6401,0.2704	,,,,	76/254,76/254,76/254,76/254,76/254	4680094	35,12907	2187	4284	6471	4628094	SO:0001819	synonymous_variant	5621			M13899	CCDS13080.1	20p13	2014-06-05	2008-07-28		ENSG00000171867	ENSG00000171867		"""CD molecules"""	9449	protein-coding gene	gene with protein product	"""Creutzfeldt-Jakob disease"", ""Gerstmann-Strausler-Scheinker syndrome"", ""fatal familial insomnia"", ""p27-30"""	176640	"""prion protein (p27-30)"""	PRIP, GSS, CJD			Standard	NM_000311		Approved	CD230, PRP, AltPrP	uc002wkw.4	F7VJQ1	OTTHUMG00000031786	ENST00000379440.4:c.228C>T	20.37:g.4680094C>T			4628094		Silent	SNP	ENST00000379440.4	37	CCDS13080.1																																																																																				0.657	PRNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077820.2	NM_000311	
SNX5	27131	hgsc.bcm.edu	37	20	17929564	17929564	+	Silent	SNP	T	T	C			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr20:17929564T>C	ENST00000377768.3	-	11	1200	c.888A>G	c.(886-888)cgA>cgG	p.R296R	SNX5_ENST00000483485.1_5'UTR|SNX5_ENST00000377759.4_Silent_p.R296R	NM_152227.1	NP_689413.1	Q9Y5X3	SNX5_HUMAN	sorting nexin 5	296	BAR.				intracellular protein transport (GO:0006886)|pinocytosis (GO:0006907)	cytoplasmic vesicle (GO:0031410)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|extrinsic component of endosome membrane (GO:0031313)|macropinocytic cup (GO:0070685)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	11						GCATGTAGTATCGGAGGAGCT	0.413																																																	0			20											93.0	90.0	91.0					20																	17929564		2203	4300	6503	17877564	SO:0001819	synonymous_variant	27131			AF121855	CCDS13130.1	20p11	2008-05-22			ENSG00000089006	ENSG00000089006		"""Sorting nexins"""	14969	protein-coding gene	gene with protein product		605937				10600472, 17148574	Standard	NM_152227		Approved		uc002wqc.3	Q9Y5X3	OTTHUMG00000031953	ENST00000377768.3:c.888A>G	20.37:g.17929564T>C			17877564	B7ZKN3|D3DW26|Q52LC4|Q7KZN0|Q9BWP0	Silent	SNP	ENST00000377768.3	37	CCDS13130.1																																																																																				0.413	SNX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078137.4		
FOXA2	3170	hgsc.bcm.edu	37	20	22563246	22563246	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr20:22563246A>G	ENST00000377115.4	-	3	797	c.616T>C	c.(616-618)Tcc>Ccc	p.S206P	FOXA2_ENST00000419308.2_Missense_Mutation_p.S212P	NM_153675.2	NP_710141.1	Q9Y261	FOXA2_HUMAN	forkhead box A2	206					adult locomotory behavior (GO:0008344)|cell development (GO:0048468)|cell differentiation in hindbrain (GO:0021533)|cell fate specification (GO:0001708)|chromatin modification (GO:0016568)|connective tissue development (GO:0061448)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral neural tube patterning (GO:0021904)|ectoderm formation (GO:0001705)|endocrine pancreas development (GO:0031018)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|in utero embryonic development (GO:0001701)|lung epithelial cell differentiation (GO:0060487)|negative regulation of detection of glucose (GO:2000971)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter by glucose (GO:0000433)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by glucose (GO:0000432)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|primitive streak formation (GO:0090009)|regulation of blood coagulation (GO:0030193)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in detection of glucose (GO:2000976)|response to interleukin-6 (GO:0070741)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					TGGCGGATGGAGTTCTGCCAG	0.617																																																	0			20											50.0	51.0	51.0					20																	22563246		2203	4300	6503	22511246	SO:0001583	missense	3170			AF147787	CCDS13147.1, CCDS46585.1	20p11	2008-04-10		2002-09-20	ENSG00000125798	ENSG00000125798		"""Forkhead boxes"""	5022	protein-coding gene	gene with protein product		600288	"""hepatocyte nuclear factor 3, beta"""	HNF3B		9119385, 11875061	Standard	NM_153675		Approved		uc002wsm.3	Q9Y261	OTTHUMG00000032041	ENST00000377115.4:c.616T>C	20.37:g.22563246A>G	ENSP00000366319:p.Ser206Pro		22511246	Q8WUW4|Q96DF7	Missense_Mutation	SNP	ENST00000377115.4	37	CCDS13147.1	.	.	.	.	.	.	.	.	.	.	A	19.02	3.745683	0.69418	.	.	ENSG00000125798	ENST00000377115;ENST00000419308;ENST00000319993;ENST00000444877	D;D;D	0.97620	-4.46;-4.46;-4.46	4.98	4.98	0.66077	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);Transcription factor, fork head, conserved site (1);	0.000000	0.64402	U	0.000012	D	0.98943	0.9641	H	0.97829	4.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99097	1.0842	10	0.87932	D	0	.	10.4836	0.44708	0.8545:0.0:0.0:0.1455	.	206;212	Q9Y261;B0ZTD4	FOXA2_HUMAN;.	P	206;206;212;92	ENSP00000366319:S206P;ENSP00000400341:S206P;ENSP00000315955:S212P	ENSP00000315955:S212P	S	-	1	0	FOXA2	22511246	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.063000	0.71162	1.867000	0.54127	0.468000	0.43344	TCC		0.617	FOXA2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078289.1		
GDAP1L1	78997	hgsc.bcm.edu	37	20	42876150	42876150	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr20:42876150A>G	ENST00000342560.5	+	1	264	c.176A>G	c.(175-177)cAg>cGg	p.Q59R	GDAP1L1_ENST00000372952.3_Missense_Mutation_p.Q59R|GDAP1L1_ENST00000537864.1_5'UTR	NM_001256737.1|NM_024034.4	NP_001243666.1|NP_076939.3	Q96MZ0	GD1L1_HUMAN	ganglioside induced differentiation associated protein 1-like 1	59	GST N-terminal.									endometrium(1)|large_intestine(5)|lung(10)|pancreas(1)|prostate(1)	18		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			TTCAGCTCGCAGAAGGTAGAG	0.706																																																	0			20											7.0	9.0	8.0					20																	42876150		2074	4179	6253	42309564	SO:0001583	missense	78997				CCDS13328.1, CCDS74725.1, CCDS74726.1, CCDS74727.1	20q12	2012-02-09	2012-02-09		ENSG00000124194	ENSG00000124194			4213	protein-coding gene	gene with protein product							Standard	NM_024034		Approved		uc010zwl.3	Q96MZ0	OTTHUMG00000032530	ENST00000342560.5:c.176A>G	20.37:g.42876150A>G	ENSP00000341782:p.Gln59Arg		42309564	B7Z621|Q5TE60|Q68CW7|Q9BQJ7|Q9BQV4|Q9BWJ4|Q9H3Y2|Q9H4G5	Missense_Mutation	SNP	ENST00000342560.5	37	CCDS13328.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.192658	0.78902	.	.	ENSG00000124194	ENST00000342560;ENST00000372947;ENST00000372946;ENST00000545149;ENST00000438466;ENST00000372952	T;T;T	0.23754	1.89;1.89;1.89	4.2	4.2	0.49525	Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.34948	0.0915	L	0.31065	0.9	0.80722	D	1	D;B;D;D	0.69078	0.985;0.379;0.997;0.993	D;B;D;D	0.74023	0.982;0.337;0.962;0.937	T	0.04255	-1.0965	10	0.23302	T	0.38	.	13.1148	0.59294	1.0:0.0:0.0:0.0	.	59;59;59;5	B7Z1I3;B7Z621;Q96MZ0;Q5JY50	.;.;GD1L1_HUMAN;.	R	59;57;59;28;59;59	ENSP00000341782:Q59R;ENSP00000392881:Q59R;ENSP00000362043:Q59R	ENSP00000341782:Q59R	Q	+	2	0	GDAP1L1	42309564	1.000000	0.71417	1.000000	0.80357	0.780000	0.44128	8.396000	0.90190	1.778000	0.52293	0.379000	0.24179	CAG		0.706	GDAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079356.1	NM_024034	
ZNF831	128611	hgsc.bcm.edu	37	20	57767043	57767043	+	Silent	SNP	G	G	C	rs259984	byFrequency	TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr20:57767043G>C	ENST00000371030.2	+	1	969	c.969G>C	c.(967-969)gcG>gcC	p.A323A		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	323							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CGACGGCAGCGGAGAAGCCCT	0.716													.|||	1803	0.360024	0.5779	0.3141	5008	,	,		12009	0.3522		0.2356	False		,,,				2504	0.2342																0			20						C		1197,2125		240,717,704	11.0	14.0	13.0		969	-8.9	0.0	20	dbSNP_79	13	1317,6455		129,1059,2698	no	coding-synonymous	ZNF831	NM_178457.1		369,1776,3402	CC,CG,GG		16.9454,36.0325,22.6609		323/1678	57767043	2514,8580	1661	3886	5547	57200438	SO:0001819	synonymous_variant	128611			AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.969G>C	20.37:g.57767043G>C			57200438	Q5TDR4|Q8TCP0	Silent	SNP	ENST00000371030.2	37	CCDS42894.1																																																																																				0.716	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457	
COL20A1	57642	hgsc.bcm.edu	37	20	61957492	61957492	+	Silent	SNP	T	T	C			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr20:61957492T>C	ENST00000358894.6	+	30	3547	c.3447T>C	c.(3445-3447)ccT>ccC	p.P1149P	COL20A1_ENST00000435874.1_Silent_p.P1156P|COL20A1_ENST00000422202.1_Silent_p.P1156P|COL20A1_ENST00000326996.6_Silent_p.P1181P	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	1149	Collagen-like 2.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					CTGGACCCCCTGGCCCCAGGG	0.657																																																	0			20											49.0	57.0	55.0					20																	61957492		1916	4119	6035	61427936	SO:0001819	synonymous_variant	57642			BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"""Collagens"", ""Fibronectin type III domain containing"""	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.3447T>C	20.37:g.61957492T>C			61427936	Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Missense_Mutation	SNP	ENST00000358894.6	37	CCDS46628.1																																																																																				0.657	COL20A1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000144595.2	NM_020882	
RTEL1	51750	hgsc.bcm.edu	37	20	62305428	62305428	+	Missense_Mutation	SNP	G	G	A	rs201365106		TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr20:62305428G>A	ENST00000360203.5	+	10	1226	c.901G>A	c.(901-903)Gcg>Acg	p.A301T	RTEL1_ENST00000508582.2_Missense_Mutation_p.A325T|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.A301T|RTEL1_ENST00000318100.4_Missense_Mutation_p.A301T|RTEL1_ENST00000370018.3_Missense_Mutation_p.A301T					regulator of telomere elongation helicase 1											NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			GGAGTTCAGCGCGGACTCCCC	0.662																																																	0			20											61.0	61.0	61.0					20																	62305428		2203	4300	6503	61775872	SO:0001583	missense	51750			AB029011	CCDS13530.2, CCDS13531.1, CCDS13530.3, CCDS63331.1, CCDS74751.1	20q13.3	2012-06-27	2004-10-29	2004-10-29	ENSG00000258366	ENSG00000258366			15888	protein-coding gene	gene with protein product		608833	"""chromosome 20 open reading frame 41"""	C20orf41		10655513, 15210109	Standard	NM_016434		Approved	bK3184A7.3, NHL, DKFZP434C013, KIAA1088, RTEL	uc011abd.2	Q9NZ71	OTTHUMG00000032992	ENST00000360203.5:c.901G>A	20.37:g.62305428G>A	ENSP00000353332:p.Ala301Thr		61775872		Missense_Mutation	SNP	ENST00000360203.5	37		.	.	.	.	.	.	.	.	.	.	g	8.465	0.856265	0.17106	.	.	ENSG00000258366	ENST00000370018;ENST00000318100;ENST00000508582;ENST00000360203;ENST00000356810	D;D;T;D;T	0.81659	-1.51;-1.52;-1.46;-1.5;0.43	4.86	-1.31	0.09230	.	1.007960	0.07967	N	0.983347	T	0.64382	0.2593	N	0.17474	0.49	0.09310	N	1	B;B;B;B	0.10296	0.001;0.003;0.0;0.001	B;B;B;B	0.09377	0.004;0.001;0.001;0.002	T	0.45542	-0.9254	10	0.23302	T	0.38	0.1043	9.6182	0.39706	0.5928:0.0:0.4072:0.0	.	325;325;301;301	Q9NZ71-7;D6RBA3;Q9NZ71;Q9NZ71-6	.;.;RTEL1_HUMAN;.	T	301;301;325;301;351	ENSP00000359035:A301T;ENSP00000322287:A301T;ENSP00000424307:A325T;ENSP00000353332:A301T;ENSP00000349265:A351T	ENSP00000349265:A351T	A	+	1	0	AL353715.1	61775872	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.432000	0.21461	-0.207000	0.10187	-0.862000	0.03010	GCG		0.662	RTEL1-011	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000289781.1	NM_032957	
KCNJ4	3761	hgsc.bcm.edu	37	22	38823189	38823189	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr22:38823189G>A	ENST00000303592.3	-	2	1207	c.949C>T	c.(949-951)Cgc>Tgc	p.R317C	RP3-434P1.6_ENST00000433230.1_RNA	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	KCNJ4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	317					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|PDZ domain binding (GO:0030165)			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					GGCTCAAAGCGGTGGCCCCAC	0.627																																																	0			22											31.0	31.0	31.0					22																	38823189		2203	4300	6503	37153135	SO:0001583	missense	3761			U07364	CCDS13971.1	22q13.1	2011-07-05			ENSG00000168135	ENSG00000168135		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6265	protein-coding gene	gene with protein product		600504				8016146, 16382105	Standard	NM_152868		Approved	Kir2.3, HIR, HRK1, hIRK2, IRK3	uc003avs.1	P48050	OTTHUMG00000151131	ENST00000303592.3:c.949C>T	22.37:g.38823189G>A	ENSP00000306497:p.Arg317Cys		37153135	Q14D44	Missense_Mutation	SNP	ENST00000303592.3	37	CCDS13971.1	.	.	.	.	.	.	.	.	.	.	G	18.95	3.732631	0.69189	.	.	ENSG00000168135	ENST00000303592	D	0.95554	-3.74	4.83	4.83	0.62350	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.97682	0.9240	M	0.90082	3.085	0.80722	D	1	D	0.67145	0.996	P	0.57244	0.816	D	0.98713	1.0705	10	0.87932	D	0	.	18.3485	0.90329	0.0:0.0:1.0:0.0	.	317	P48050	IRK4_HUMAN	C	317	ENSP00000306497:R317C	ENSP00000306497:R317C	R	-	1	0	KCNJ4	37153135	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.625000	0.83145	2.401000	0.81631	0.555000	0.69702	CGC		0.627	KCNJ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321447.1	NM_004981	
SCUBE1	80274	hgsc.bcm.edu	37	22	43608506	43608506	+	Missense_Mutation	SNP	C	C	T	rs550015784		TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr22:43608506C>T	ENST00000360835.4	-	17	2272	c.2146G>A	c.(2146-2148)Ggc>Agc	p.G716S	Z82214.3_ENST00000420269.1_RNA	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	716					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|post-embryonic development (GO:0009791)|protein homooligomerization (GO:0051260)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				GGGAAGCAGCCGGTGCGCCCG	0.652													C|||	1	0.000199681	0.0	0.0	5008	,	,		13011	0.0		0.0	False		,,,				2504	0.001																0			22											50.0	40.0	43.0					22																	43608506		2163	4233	6396	41938450	SO:0001583	missense	80274				CCDS14048.1	22q13	2008-07-01			ENSG00000159307	ENSG00000159307			13441	protein-coding gene	gene with protein product		611746				11087664	Standard	NM_173050		Approved		uc003bdt.2	Q8IWY4	OTTHUMG00000150679	ENST00000360835.4:c.2146G>A	22.37:g.43608506C>T	ENSP00000354080:p.Gly716Ser		41938450	Q5R336	Missense_Mutation	SNP	ENST00000360835.4	37	CCDS14048.1	.	.	.	.	.	.	.	.	.	.	C	9.595	1.127122	0.20959	.	.	ENSG00000159307	ENST00000360835;ENST00000381243	T	0.12879	2.64	4.12	-8.24	0.01029	Tyrosine-protein kinase ephrin type A/B receptor-like (1);Growth factor, receptor (1);	0.551444	0.20256	N	0.095975	T	0.01800	0.0057	N	0.00157	-1.96	0.24424	N	0.994607	B	0.02656	0.0	B	0.04013	0.001	T	0.42548	-0.9445	10	0.15952	T	0.53	.	9.1871	0.37176	0.0:0.2333:0.37:0.3967	.	716	Q8IWY4	SCUB1_HUMAN	S	716;346	ENSP00000354080:G716S	ENSP00000354080:G716S	G	-	1	0	SCUBE1	41938450	0.007000	0.16637	0.005000	0.12908	0.775000	0.43874	0.077000	0.14738	-1.908000	0.01086	-1.945000	0.00491	GGC		0.652	SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319582.3	NM_173050	
IFI27	3429	hgsc.bcm.edu	37	14	94578076	94578076	+	Silent	SNP	A	A	G			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr14:94578076A>G	ENST00000555744.1	+	2	236	c.48A>G	c.(46-48)aaA>aaG	p.K16K	IFI27_ENST00000298902.5_Silent_p.K16K|IFI27_ENST00000448882.1_Silent_p.K16K|IFI27_ENST00000557098.1_Intron|IFI27_ENST00000557634.1_Silent_p.K16K|IFI27_ENST00000444961.1_Silent_p.K16K			P40305	IFI27_HUMAN	interferon, alpha-inducible protein 27	16					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic signaling pathway (GO:0097190)|cytokine-mediated signaling pathway (GO:0019221)|type I interferon signaling pathway (GO:0060337)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)				breast(1)|lung(3)	4				Epithelial(152;0.112)|all cancers(159;0.187)|COAD - Colon adenocarcinoma(157;0.206)		GTGTGGCCAAAGTGGTCAGGG	0.622																																					GBM(128;797 1667 20895 29868 47129)												0			14											140.0	112.0	122.0					14																	94578076		2203	4300	6503	93647829	SO:0001819	synonymous_variant	3429			X67325	CCDS32148.1	14q32.12	2012-10-02			ENSG00000165949	ENSG00000165949			5397	protein-coding gene	gene with protein product		600009				8358738	Standard	NM_005532		Approved	P27, FAM14D	uc021sba.1	P40305	OTTHUMG00000171303	ENST00000555744.1:c.48A>G	14.37:g.94578076A>G			93647829	Q53YA6|Q6IEC1|Q96BK3	Silent	SNP	ENST00000555744.1	37	CCDS32148.1																																																																																				0.622	IFI27-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000412889.1	NM_005532	
DYNC1H1	1778	hgsc.bcm.edu	37	14	102482766	102482766	+	Missense_Mutation	SNP	C	C	G			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr14:102482766C>G	ENST00000360184.4	+	37	7718	c.7554C>G	c.(7552-7554)atC>atG	p.I2518M		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2518					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GTGAATACATCAGAAGAATCA	0.483																																																	0			14											85.0	80.0	82.0					14																	102482766		2203	4300	6503	101552519	SO:0001583	missense	1778			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.7554C>G	14.37:g.102482766C>G	ENSP00000348965:p.Ile2518Met		101552519	B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	C	16.91	3.252053	0.59212	.	.	ENSG00000197102	ENST00000360184	T	0.25579	1.79	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.30293	0.0760	M	0.76838	2.35	0.58432	D	0.999999	B	0.32573	0.376	B	0.33454	0.164	T	0.12041	-1.0563	10	0.52906	T	0.07	.	8.7974	0.34887	0.1512:0.7683:0.0:0.0805	.	2518	Q14204	DYHC1_HUMAN	M	2518	ENSP00000348965:I2518M	ENSP00000348965:I2518M	I	+	3	3	DYNC1H1	101552519	1.000000	0.71417	0.988000	0.46212	0.910000	0.53928	1.739000	0.38217	2.837000	0.97791	0.655000	0.94253	ATC		0.483	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376	
GRIN3B	116444	hgsc.bcm.edu	37	19	1004844	1004844	+	Silent	SNP	T	T	C	rs4806909	byFrequency	TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr19:1004844T>C	ENST00000234389.3	+	3	1363	c.1344T>C	c.(1342-1344)ccT>ccC	p.P448P	GRIN3B_ENST00000588335.1_3'UTR|AC004528.4_ENST00000588380.1_RNA	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	448					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|protein insertion into membrane (GO:0051205)|regulation of calcium ion transport (GO:0051924)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|neurotransmitter receptor activity (GO:0030594)			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GCCTGGACCCTGGCACCAACG	0.652													N|||	1605	0.320487	0.4213	0.2421	5008	,	,		15607	0.1667		0.3847	False		,,,				2504	0.3323																0			19						C		1841,2565	616.7+/-392.8	383,1075,745	51.0	50.0	50.0		1344	-9.2	0.0	19	dbSNP_111	50	3312,5280	623.5+/-397.5	640,2032,1624	no	coding-synonymous	GRIN3B	NM_138690.1		1023,3107,2369	CC,CT,TT		38.5475,41.7839,39.6446		448/1044	1004844	5153,7845	2203	4296	6499	955844	SO:0001819	synonymous_variant	116444				CCDS32861.1	19p13.3	2014-05-06			ENSG00000116032	ENSG00000116032		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16768	protein-coding gene	gene with protein product		606651					Standard	XM_003403700		Approved	GluN3B	uc002lqo.1	O60391	OTTHUMG00000181904	ENST00000234389.3:c.1344T>C	19.37:g.1004844T>C			955844	Q5EAK7|Q7RTW9	Silent	SNP	ENST00000234389.3	37	CCDS32861.1																																																																																				0.652	GRIN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103923.2		
KIRREL2	84063	hgsc.bcm.edu	37	19	36349690	36349690	+	Missense_Mutation	SNP	G	G	A	rs571708243		TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr19:36349690G>A	ENST00000360202.5	+	4	644	c.446G>A	c.(445-447)cGt>cAt	p.R149H	NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000347900.6_Missense_Mutation_p.R99H|KIRREL2_ENST00000592409.1_Missense_Mutation_p.R149H|KIRREL2_ENST00000262625.7_Missense_Mutation_p.R149H	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	149	Ig-like C2-type 2.				cell adhesion (GO:0007155)|negative regulation of protein phosphorylation (GO:0001933)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)		p.R149H(3)		breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGTCGGAGCCGTGGGGATGCC	0.612																																																	3	Substitution - Missense(3)	endometrium(2)|large_intestine(1)	19											97.0	96.0	96.0					19																	36349690		2203	4300	6503	41041530	SO:0001583	missense	84063			AL136654	CCDS12479.1, CCDS12480.1, CCDS12481.1	19q13.13	2013-01-29				ENSG00000126259		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18816	protein-coding gene	gene with protein product		607762				12837264, 12504092	Standard	NM_199180		Approved	NLG1, NEPH3, FILTRIN, DKFZp564A1164, MGC15718	uc002ocb.4	Q6UWL6		ENST00000360202.5:c.446G>A	19.37:g.36349690G>A	ENSP00000353331:p.Arg149His		41041530	C9JHF1|C9JJ76|F1T0I2|Q6P1R1|Q7Z5P1|Q7Z5P2|Q96IQ8|Q9H0T1	Missense_Mutation	SNP	ENST00000360202.5	37	CCDS12481.1	.	.	.	.	.	.	.	.	.	.	G	1.470	-0.559959	0.03967	.	.	ENSG00000126259	ENST00000262625;ENST00000347900;ENST00000360202;ENST00000341658	T;T;T	0.77620	-1.11;-1.11;-1.11	5.56	-1.45	0.08828	Immunoglobulin subtype (1);CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.378405	0.18495	N	0.139527	T	0.60327	0.2260	L	0.28504	0.86	0.21416	N	0.999692	B;B;B;B;B	0.19331	0.008;0.007;0.018;0.035;0.035	B;B;B;B;B	0.16722	0.012;0.007;0.016;0.016;0.016	T	0.45731	-0.9241	10	0.26408	T	0.33	-3.9095	8.4803	0.33038	0.4985:0.0:0.5015:0.0	.	149;149;149;99;149	F1T0I2;Q6UWL6-4;Q6UWL6;Q6UWL6-3;Q6UWL6-2	.;.;KIRR2_HUMAN;.;.	H	149;99;149;149	ENSP00000262625:R149H;ENSP00000345067:R99H;ENSP00000353331:R149H	ENSP00000262625:R149H	R	+	2	0	KIRREL2	41041530	0.000000	0.05858	0.591000	0.28745	0.031000	0.12232	-0.395000	0.07287	-0.058000	0.13177	-1.007000	0.02485	CGT		0.612	KIRREL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452561.1	NM_032123	
FCGBP	8857	hgsc.bcm.edu	37	19	40366391	40366391	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr19:40366391T>C	ENST00000221347.6	-	30	13850	c.13843A>G	c.(13843-13845)Aac>Gac	p.N4615D		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4615	VWFD 11. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TGGTTGTAGTTCCCGCATAAG	0.677																																																	0			19											47.0	54.0	52.0					19																	40366391		2202	4299	6501	45058231	SO:0001583	missense	8857			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.13843A>G	19.37:g.40366391T>C	ENSP00000221347:p.Asn4615Asp		45058231	O95784	Missense_Mutation	SNP	ENST00000221347.6	37	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	T	11.64	1.697741	0.30142	.	.	ENSG00000090920	ENST00000221347	T	0.63096	-0.02	4.32	2.18	0.27775	von Willebrand factor, type D domain (3);	0.123851	0.50627	D	0.000106	T	0.50103	0.1596	L	0.41027	1.25	0.27172	N	0.960881	B	0.25048	0.117	B	0.31812	0.136	T	0.39542	-0.9609	10	0.26408	T	0.33	.	8.4372	0.32795	0.0:0.1816:0.0:0.8184	.	4615	Q9Y6R7	FCGBP_HUMAN	D	4615	ENSP00000221347:N4615D	ENSP00000221347:N4615D	N	-	1	0	FCGBP	45058231	0.997000	0.39634	1.000000	0.80357	0.301000	0.27625	2.629000	0.46485	0.767000	0.33267	0.254000	0.18369	AAC		0.677	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890	
EMC10	284361	hgsc.bcm.edu	37	19	50983930	50983930	+	Silent	SNP	C	C	T	rs10409679	byFrequency	TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr19:50983930C>T	ENST00000334976.6	+	5	541	c.495C>T	c.(493-495)ccC>ccT	p.P165P	CTD-2545M3.2_ENST00000598194.1_RNA|EMC10_ENST00000598585.1_Silent_p.P165P|EMC10_ENST00000376918.3_Silent_p.P165P	NM_206538.2	NP_996261.1	Q5UCC4	EMC10_HUMAN	ER membrane protein complex subunit 10	165						ER membrane protein complex (GO:0072546)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)											TGACGCACCCCGGGGGCTGCC	0.697													C|||	2712	0.541534	0.3389	0.6297	5008	,	,		13105	0.5556		0.5875	False		,,,				2504	0.6912																0			19						C	,	1652,2732		318,1016,858	24.0	25.0	25.0		495,495	-8.5	0.1	19	dbSNP_119	25	5033,3555		1498,2037,759	no	coding-synonymous,coding-synonymous	C19orf63	NM_175063.4,NM_206538.2	,	1816,3053,1617	TT,TC,CC		41.395,37.6825,48.4659	,	165/255,165/263	50983930	6685,6287	2192	4294	6486	55675742	SO:0001819	synonymous_variant	284361			BC062607	CCDS12796.1, CCDS42594.1	19q13.33	2012-05-30	2012-05-30	2012-05-30	ENSG00000161671	ENSG00000161671			27609	protein-coding gene	gene with protein product	"""hematopoietic signal peptide-containing secreted 1"", ""hematopoietic signal peptide-containing membrane domain-containing 1"""	614545	"""chromosome 19 open reading frame 63"""	C19orf63		12975309, 22119785	Standard	NM_175063		Approved	INM02, HSS1, HSM1	uc002psl.3	Q5UCC4		ENST00000334976.6:c.495C>T	19.37:g.50983930C>T			55675742	Q5UCC6|Q69YT5|Q6UWP3|Q86YL4|Q8N541	Silent	SNP	ENST00000334976.6	37	CCDS12796.1																																																																																				0.697	EMC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464760.2	NM_175063	
KIR3DL1	3811	hgsc.bcm.edu	37	19	55327960	55327960	+	Missense_Mutation	SNP	C	C	T	rs605219	byFrequency	TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr19:55327960C>T	ENST00000391728.4	+	1	38	c.5C>T	c.(4-6)tCg>tTg	p.S2L	KIR3DL1_ENST00000326542.7_Missense_Mutation_p.S2L|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.S2L	NM_013289.2	NP_037421.2	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	2			S -> L (in dbSNP:rs605219).		immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		AGCACCATGTCGCTCATGGTC	0.597											OREG0003676	type=REGULATORY REGION|Gene=KIR3DL1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	t|||	1829	0.365216	0.4327	0.3271	5008	,	,		7095	0.6002		0.174	False		,,,				2504	0.2556																0			19											30.0	39.0	36.0					19																	55327960		1107	3277	4384	60019772	SO:0001583	missense	3811			L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000391728.4:c.5C>T	19.37:g.55327960C>T	ENSP00000375608:p.Ser2Leu	1007	60019772	O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000391728.4	37	CCDS42621.1	.	.	.	.	.	.	.	.	.	.	C	9.183	1.024000	0.19433	.	.	ENSG00000167633	ENST00000391728;ENST00000326542;ENST00000358178	T;T;T	0.00493	7.08;7.14;7.0	0.388	0.388	0.16264	.	.	.	.	.	T	0.01061	0.0035	M	0.61703	1.905	0.29242	P	0.872557	B;D;B	0.61697	0.045;0.99;0.233	B;D;B	0.66847	0.008;0.947;0.039	T	0.55244	-0.8171	7	0.35671	T	0.21	.	.	.	.	rs605219;rs1049297;rs3189442;rs34986537	2;2;2	Q14946;F6QF33;P43629	.;.;KI3L1_HUMAN	L	2	ENSP00000375608:S2L;ENSP00000326868:S2L;ENSP00000350901:S2L	ENSP00000326868:S2L	S	+	2	0	KIR3DL1	60019772	0.000000	0.05858	0.069000	0.20011	0.070000	0.16714	-0.080000	0.11339	0.444000	0.26612	0.194000	0.17425	TCG		0.597	KIR3DL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141238.1	NM_013289	
PPP1R12C	54776	hgsc.bcm.edu	37	19	55610394	55610394	+	Silent	SNP	C	C	T			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr19:55610394C>T	ENST00000263433.3	-	5	816	c.801G>A	c.(799-801)gcG>gcA	p.A267A	PPP1R12C_ENST00000435544.2_Silent_p.A193A|PPP1R12C_ENST00000376393.2_Silent_p.A267A	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1			protein phosphatase 1, regulatory subunit 12C											central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		CCCAGTGTGCCGCTGCGTGCA	0.711																																																	0			19											16.0	15.0	15.0					19																	55610394		2134	4224	6358	60302206	SO:0001819	synonymous_variant	54776			AF312028	CCDS12916.1	19q13.42	2013-01-10	2011-10-04		ENSG00000125503	ENSG00000125503		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14947	protein-coding gene	gene with protein product	"""myosin-binding subunit 85"""	613245	"""leukocyte receptor cluster (LRC) member 3"", ""protein phosphatase 1, regulatory (inhibitor) subunit 12C"""	LENG3		11399775	Standard	NM_017607		Approved	DKFZP434D0412, p84, MBS85, p85	uc002qix.4	Q9BZL4		ENST00000263433.3:c.801G>A	19.37:g.55610394C>T			60302206		Silent	SNP	ENST00000263433.3	37	CCDS12916.1																																																																																				0.711	PPP1R12C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451814.2	NM_017607	
DNAAF3	352909	hgsc.bcm.edu	37	19	55672470	55672470	+	Missense_Mutation	SNP	T	T	C	rs2365725	byFrequency	TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr19:55672470T>C	ENST00000524407.2	-	8	908	c.875A>G	c.(874-876)gAg>gGg	p.E292G	DNAAF3_ENST00000391720.4_Missense_Mutation_p.E339G|CTD-2587H24.4_ENST00000587871.1_5'Flank|DNAAF3_ENST00000455045.1_Missense_Mutation_p.E238G|DNAAF3_ENST00000527223.2_Missense_Mutation_p.E360G|DNAAF3_ENST00000587789.2_5'Flank|CTD-2587H24.5_ENST00000591665.1_RNA			Q8N9W5	DAAF3_HUMAN	dynein, axonemal, assembly factor 3	292			E -> G (in dbSNP:rs2365725).		axonemal dynein complex assembly (GO:0070286)|motile cilium assembly (GO:0044458)	cytoplasm (GO:0005737)											CAGGAGGCTCTCGTCGTCCGC	0.716													t|||	1140	0.227636	0.5234	0.1455	5008	,	,		9834	0.0913		0.1421	False		,,,				2504	0.1145																0			19						T	GLY/GLU	1334,2304		255,824,740	4.0	7.0	6.0		1016	3.2	0.7	19	dbSNP_100	6	922,6602		75,772,2915	yes	missense	C19orf51	NM_178837.3	98	330,1596,3655	CC,CT,TT		12.2541,36.6685,20.2114	possibly-damaging	339/589	55672470	2256,8906	1819	3762	5581	60364282	SO:0001583	missense	352909			AK097388	CCDS12918.2, CCDS58679.1, CCDS58680.1, CCDS59422.1	19q13.42	2012-10-05	2012-03-09	2012-03-09	ENSG00000167646	ENSG00000167646			30492	protein-coding gene	gene with protein product		614566	"""chromosome 19 open reading frame 51"", ""ciliary dyskinesia, primary 2"""	C19orf51, CILD2		22387996	Standard	NM_001256714		Approved	FLJ40069, FLJ36139, PF22, PCD	uc002qjl.2	Q8N9W5	OTTHUMG00000128547	ENST00000524407.2:c.875A>G	19.37:g.55672470T>C	ENSP00000432046:p.Glu292Gly		60364282	A8MUY0|E3W9A1|E9PAX5|Q6P4F6|Q8N9W0|Q96AR2	Missense_Mutation	SNP	ENST00000524407.2	37	CCDS59422.1	457	0.20924908424908426	260	0.5284552845528455	56	0.15469613259668508	45	0.07867132867132867	96	0.1266490765171504	T	13.36	2.213980	0.39102	0.366685	0.122541	ENSG00000167646	ENST00000301249;ENST00000455045;ENST00000391720	T;T	0.22336	1.96;1.96	4.24	3.18	0.36537	.	0.812692	0.10927	N	0.618852	T	0.00012	0.0000	M	0.77486	2.375	0.51767	P	6.700000000003925E-5	P;P;B;P	0.41848	0.557;0.763;0.187;0.763	B;B;B;B	0.36845	0.234;0.229;0.073;0.229	T	0.43956	-0.9359	9	0.59425	D	0.04	-4.1385	8.5773	0.33605	0.0:0.0:0.3813:0.6186	rs2365725;rs2365725	360;238;313;292	E9PAX5;E3W9A1;Q8N9W5-3;Q8N9W5	.;.;.;CS051_HUMAN	G	360;238;339	ENSP00000394343:E238G;ENSP00000375600:E339G	ENSP00000301249:E360G	E	-	2	0	C19orf51	60364282	0.356000	0.24930	0.735000	0.30896	0.448000	0.32197	1.240000	0.32731	0.585000	0.29608	0.454000	0.30748	GAG		0.716	DNAAF3-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250388.5	NM_178837	
ZFHX4	79776	hgsc.bcm.edu	37	8	77765301	77765301	+	Silent	SNP	T	T	A			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr8:77765301T>A	ENST00000521891.2	+	10	6592	c.6144T>A	c.(6142-6144)ccT>ccA	p.P2048P	ZFHX4_ENST00000455469.2_Silent_p.P2003P|ZFHX4_ENST00000518282.1_Silent_p.P2022P|ZFHX4_ENST00000050961.6_Silent_p.P2003P	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2003	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			caccaccacctcctcctcctc	0.597										HNSCC(33;0.089)																																							0			8																																								77927856	SO:0001819	synonymous_variant	79776				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.6144T>A	8.37:g.77765301T>A			77927856	G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	CCDS47878.2																																																																																				0.597	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721	
ZFHX4	79776	hgsc.bcm.edu	37	8	77765319	77765319	+	Silent	SNP	T	T	C			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr8:77765319T>C	ENST00000521891.2	+	10	6610	c.6162T>C	c.(6160-6162)ccT>ccC	p.P2054P	ZFHX4_ENST00000455469.2_Silent_p.P2009P|ZFHX4_ENST00000518282.1_Silent_p.P2028P|ZFHX4_ENST00000050961.6_Silent_p.P2009P	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2009					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ctcctcctcctccccccccac	0.592										HNSCC(33;0.089)																																							0			8											3.0	3.0	3.0					8																	77765319		1385	3182	4567	77927874	SO:0001819	synonymous_variant	79776				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.6162T>C	8.37:g.77765319T>C			77927874	G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	CCDS47878.2																																																																																				0.592	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721	
NBN	4683	hgsc.bcm.edu	37	8	90990528	90990528	+	Silent	SNP	T	T	C			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr8:90990528T>C	ENST00000265433.3	-	5	658	c.504A>G	c.(502-504)ggA>ggG	p.G168G	NBN_ENST00000409330.1_Silent_p.G86G	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	168	BRCT.|Mediates interaction with SP100. {ECO:0000250}.				blastocyst growth (GO:0001832)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|DNA damage checkpoint (GO:0000077)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intrinsic apoptotic signaling pathway (GO:0097193)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G2 DNA damage checkpoint (GO:0007095)|neuromuscular process controlling balance (GO:0050885)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|telomere maintenance (GO:0000723)	Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nuclear inclusion body (GO:0042405)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|replication fork (GO:0005657)|site of double-strand break (GO:0035861)	damaged DNA binding (GO:0003684)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)	p.G168G(1)		autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			CAATTGGACGTCCACAAATGA	0.299								Homologous recombination																																									1	Substitution - coding silent(1)	central_nervous_system(1)	8											79.0	78.0	79.0					8																	90990528		2203	4300	6503	91059704	SO:0001819	synonymous_variant	9048			AF058696	CCDS6249.1	8q21-q24	2014-09-17	2005-06-02	2005-06-02	ENSG00000104320	ENSG00000104320			7652	protein-coding gene	gene with protein product		602667	"""Nijmegen breakage syndrome 1 (nibrin)"""	NBS, NBS1		9590181, 9590180	Standard	XM_005250923		Approved	ATV, AT-V2, AT-V1	uc003yej.1	O60934	OTTHUMG00000153546	ENST00000265433.3:c.504A>G	8.37:g.90990528T>C			91059704	B2R626|B2RNC5|O60672|Q32NF7|Q53FM6|Q63HR6|Q7LDM2	Silent	SNP	ENST00000265433.3	37	CCDS6249.1																																																																																				0.299	NBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331583.3	NM_001024688	
CPQ	10404	hgsc.bcm.edu	37	8	97797188	97797188	+	Silent	SNP	A	A	G			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr8:97797188A>G	ENST00000220763.5	+	2	273	c.63A>G	c.(61-63)aaA>aaG	p.K21K		NM_016134.2	NP_057218.1	Q9Y646	CBPQ_HUMAN	carboxypeptidase Q	21					peptide catabolic process (GO:0043171)|proteolysis (GO:0006508)|thyroid hormone generation (GO:0006590)|tissue regeneration (GO:0042246)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)	carboxypeptidase activity (GO:0004180)|metal ion binding (GO:0046872)|metallodipeptidase activity (GO:0070573)|protein homodimerization activity (GO:0042803)										GCTCTGGGAAAGCTATATGCA	0.373																																																	0			8											94.0	96.0	95.0					8																	97797188		2203	4300	6503	97866364	SO:0001819	synonymous_variant	10404			AF107834	CCDS6273.1	8q22.2	2012-02-17			ENSG00000104324	ENSG00000104324			16910	protein-coding gene	gene with protein product	"""lysosomal dipeptidase"", ""Ser-Met dipeptidase"", ""plasma glutamate carboxypeptidase"""					10206990	Standard	NM_016134		Approved	LDP, PGCP	uc003yhw.3	Q9Y646	OTTHUMG00000164690	ENST00000220763.5:c.63A>G	8.37:g.97797188A>G			97866364	B2RD88|Q8NBZ1|Q9UNM8|Q9Y5X6	Silent	SNP	ENST00000220763.5	37	CCDS6273.1																																																																																				0.373	CPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379757.2	NM_016134	
TNFRSF11B	4982	hgsc.bcm.edu	37	8	119964052	119964052	+	Missense_Mutation	SNP	G	G	C	rs2073618	byFrequency	TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr8:119964052G>C	ENST00000297350.4	-	1	387	c.9C>G	c.(7-9)aaC>aaG	p.N3K		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	3			N -> K (in dbSNP:rs2073618). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:9108485, ECO:0000269|PubMed:9492069, ECO:0000269|PubMed:9688283, ECO:0000269|Ref.6}.		apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|negative regulation of bone resorption (GO:0045779)|negative regulation of odontogenesis of dentin-containing tooth (GO:0042489)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to magnesium ion (GO:0032026)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			AGCACAGCAAGTTGTTCATTG	0.682													C|||	3339	0.666733	0.9236	0.4654	5008	,	,		12595	0.7609		0.4672	False		,,,				2504	0.5706																0			8	GRCh37	CM045665	TNFRSF11B	M	rs2073618	C	LYS/ASN	3767,613		1621,525,44	17.0	18.0	18.0		9	5.3	0.8	8	dbSNP_96	18	3863,4713		867,2129,1292	yes	missense	TNFRSF11B	NM_002546.3	94	2488,2654,1336	CC,CG,GG		45.0443,13.9954,41.1084	benign	3/402	119964052	7630,5326	2190	4288	6478	120033233	SO:0001583	missense	4982			U94332	CCDS6326.1	8q24	2008-07-31	2008-07-31		ENSG00000164761	ENSG00000164761		"""Tumor necrosis factor receptor superfamily"""	11909	protein-coding gene	gene with protein product		602643	"""osteoprotegerin"""	OPG		9108485	Standard	NM_002546		Approved	OCIF, TR1	uc003yon.4	O00300	OTTHUMG00000164969	ENST00000297350.4:c.9C>G	8.37:g.119964052G>C	ENSP00000297350:p.Asn3Lys		120033233	B2R9A8|O60236|Q53FX6|Q9UHP4	Missense_Mutation	SNP	ENST00000297350.4	37	CCDS6326.1	1406	0.6437728937728938	436	0.8861788617886179	183	0.505524861878453	425	0.743006993006993	362	0.47757255936675463	C	7.688	0.690394	0.15039	0.860046	0.450443	ENSG00000164761	ENST00000297350	T	0.71579	-0.58	5.26	5.26	0.73747	.	0.637813	0.16792	N	0.199355	T	0.00012	0.0000	N	0.00347	-1.61	0.58432	P	1.0000000000287557E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.36138	-0.9760	8	.	.	.	-1.0265	11.9629	0.53019	0.0:0.826:0.174:0.0	rs2073618;rs17751701;rs60810341;rs2073618	3	O00300	TR11B_HUMAN	K	3	ENSP00000297350:N3K	.	N	-	3	2	TNFRSF11B	120033233	0.032000	0.19561	0.781000	0.31783	0.965000	0.64279	0.645000	0.24782	1.474000	0.48178	-0.335000	0.08231	AAC		0.682	TNFRSF11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381220.1		
FER1L6	654463	hgsc.bcm.edu	37	8	125131953	125131953	+	Silent	SNP	C	C	T			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr8:125131953C>T	ENST00000522917.1	+	41	5702	c.5496C>T	c.(5494-5496)atC>atT	p.I1832I	FER1L6_ENST00000399018.1_Silent_p.I1832I|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1832						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			tcattctcatcatcctcatca	0.468																																																	0			8											230.0	244.0	239.0					8																	125131953		2083	4204	6287	125201134	SO:0001819	synonymous_variant	654463			AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.5496C>T	8.37:g.125131953C>T			125201134		Silent	SNP	ENST00000522917.1	37	CCDS43767.1																																																																																				0.468	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112	
EEF1D	1936	hgsc.bcm.edu	37	8	144671244	144671244	+	Intron	SNP	C	C	A	rs4874160	byFrequency	TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr8:144671244C>A	ENST00000529272.1	-	2	397				EEF1D_ENST00000317198.6_Intron|EEF1D_ENST00000524624.1_Intron|EEF1D_ENST00000526838.1_Intron|EEF1D_ENST00000442189.2_Silent_p.R336R|EEF1D_ENST00000423316.2_Silent_p.R336R|EEF1D_ENST00000532741.1_Silent_p.R386R|EEF1D_ENST00000528610.1_Intron|EEF1D_ENST00000419152.2_Intron|EEF1D_ENST00000531621.1_Intron|EEF1D_ENST00000532400.1_Intron|EEF1D_ENST00000395119.3_Intron			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			ACCAGGCCACCCGCAGGGCCT	0.662													G|||	3218	0.642572	0.4879	0.7536	5008	,	,		16212	0.5149		0.8499	False		,,,				2504	0.6912																0			8						G	,,,,,,	2422,1970		730,962,504	22.0	21.0	22.0		1008,,,,,,1008	2.6	1.0	8	dbSNP_111	22	7854,740		3631,592,74	no	coding-synonymous,intron,intron,intron,intron,intron,coding-synonymous	EEF1D	NM_001130053.2,NM_001130055.2,NM_001130056.2,NM_001130057.2,NM_001195203.1,NM_001960.4,NM_032378.4	,,,,,,	4361,1554,578	AA,AC,CC		8.6107,44.8543,20.8686	,,,,,,	336/648,,,,,,336/648	144671244	10276,2710	2196	4297	6493	144742387	SO:0001627	intron_variant	1936			AK024550	CCDS6404.1, CCDS6405.1, CCDS47930.1, CCDS56559.1	8q24	2011-09-15			ENSG00000104529	ENSG00000104529			3211	protein-coding gene	gene with protein product		130592				8334168	Standard	NM_001960		Approved	EF-1D, FLJ20897	uc003yyt.3	P29692	OTTHUMG00000165191	ENST00000529272.1:c.4-2225G>T	8.37:g.144671244C>A			144742387	B4DDU4|D3DWK3|E9PBQ9|Q4VBZ6|Q969J1|Q96I38	Silent	SNP	ENST00000529272.1	37	CCDS6405.1																																																																																				0.662	EEF1D-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382592.2	NM_032378	
KAZN	23254	hgsc.bcm.edu	37	1	15420804	15420804	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr1:15420804G>A	ENST00000376030.2	+	9	1645	c.1351G>A	c.(1351-1353)Gtc>Atc	p.V451I		NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein	451	SAM 1. {ECO:0000255|PROSITE- ProRule:PRU00184}.				keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						GGCGGGCACCGTCCAGGCCTG	0.647																																																	0			1											34.0	43.0	40.0					1																	15420804		2131	4237	6368	15293391	SO:0001583	missense	0			AY505119	CCDS30604.1, CCDS41267.1, CCDS152.2, CCDS41268.1	1p36.21	2014-02-12	2011-01-31		ENSG00000189337	ENSG00000189337		"""Sterile alpha motif (SAM) domain containing"""	29173	protein-coding gene	gene with protein product						15337775, 18840647	Standard	NM_015209		Approved	KIAA1026, KAZRIN, FLJ43806	uc001avm.4	Q674X7	OTTHUMG00000002042	ENST00000376030.2:c.1351G>A	1.37:g.15420804G>A	ENSP00000365198:p.Val451Ile		15293391	B0QYQ0|B1AK78|Q5TGF1|Q674X4|Q674X6|Q6ZUD1|Q8IYN7|Q8N409|Q9UIL2|Q9UPX4	Missense_Mutation	SNP	ENST00000376030.2	37	CCDS152.2	.	.	.	.	.	.	.	.	.	.	G	20.4	3.986718	0.74589	.	.	ENSG00000189337	ENST00000376030	T	0.44881	0.91	4.68	4.68	0.58851	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.266713	0.23569	N	0.046771	T	0.46639	0.1403	M	0.67517	2.055	0.80722	D	1	D	0.57899	0.981	P	0.45753	0.492	T	0.54323	-0.8311	10	0.66056	D	0.02	-32.2833	13.4568	0.61204	0.0:0.0:1.0:0.0	.	451	Q674X7	KAZRN_HUMAN	I	451	ENSP00000365198:V451I	ENSP00000365198:V451I	V	+	1	0	KAZN	15293391	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	6.531000	0.73820	2.322000	0.78497	0.561000	0.74099	GTC		0.647	KAZN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005690.2	NM_001017999	
SRRM1	10250	hgsc.bcm.edu	37	1	24997999	24997999	+	Silent	SNP	T	T	C			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr1:24997999T>C	ENST00000323848.9	+	16	2838	c.2523T>C	c.(2521-2523)gcT>gcC	p.A841A	SRRM1_ENST00000374389.4_Silent_p.A850A|SRRM1_ENST00000447431.2_Silent_p.A853A|SRRM1_ENST00000479034.1_3'UTR	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	841	Ala-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		ctgcagctgctgcagctgctg	0.473																																					Ovarian(68;897 1494 3282 17478)												0			1											31.0	31.0	31.0					1																	24997999		2203	4291	6494	24870586	SO:0001819	synonymous_variant	10250			AF048977	CCDS255.1	1p36	2010-04-22			ENSG00000133226	ENSG00000133226			16638	protein-coding gene	gene with protein product	"""Ser/Arg-related nuclear matrix protein"", ""plenty of prolines 101-like"""	605975				9531537	Standard	NM_005839		Approved	SRM160, POP101, MGC39488	uc001bjm.3	Q8IYB3	OTTHUMG00000003320	ENST00000323848.9:c.2523T>C	1.37:g.24997999T>C			24870586	O60585|Q5VVN4	Silent	SNP	ENST00000323848.9	37	CCDS255.1																																																																																				0.473	SRRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009292.2	NM_005839	
OPRD1	4985	hgsc.bcm.edu	37	1	29189597	29189597	+	Silent	SNP	C	C	T	rs2234918	byFrequency	TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr1:29189597C>T	ENST00000234961.2	+	3	1163	c.921C>T	c.(919-921)ggC>ggT	p.G307G		NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN	opioid receptor, delta 1	307					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adult locomotory behavior (GO:0008344)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|cellular response to toxic substance (GO:0097237)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|negative regulation of gene expression (GO:0010629)|negative regulation of protein oligomerization (GO:0032460)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein import into nucleus, translocation (GO:0000060)|regulation of calcium ion transport (GO:0051924)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of sensory perception of pain (GO:0051930)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	enkephalin receptor activity (GO:0038046)|opioid receptor activity (GO:0004985)			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	TCGCGCTGGGCTACGCCAATA	0.667													C|||	2911	0.58127	0.3056	0.7032	5008	,	,		15581	0.754		0.5726	False		,,,				2504	0.6984																0			1						C		1507,2897		274,959,969	29.0	26.0	27.0	http://www.ncbi.nlm.nih.gov/omim/103780,165195|http://omim.org/entry/165195|http://omim.org/entry/103780	921	3.2	1.0	1	dbSNP_98	27	4618,3982		1248,2122,930	no	coding-synonymous	OPRD1	NM_000911.3		1522,3081,1899	TT,TC,CC		46.3023,34.2189,47.1009		307/373	29189597	6125,6879	2202	4300	6502	29062184	SO:0001819	synonymous_variant	4985			U10504	CCDS329.1	1p36.1-p34.3	2012-08-08			ENSG00000116329	ENSG00000116329		"""GPCR / Class A : Opioid receptors"""	8153	protein-coding gene	gene with protein product		165195				8415697	Standard	NM_000911		Approved		uc001brf.1	P41143	OTTHUMG00000003646	ENST00000234961.2:c.921C>T	1.37:g.29189597C>T			29062184	B5B0B8	Silent	SNP	ENST00000234961.2	37	CCDS329.1																																																																																				0.667	OPRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010330.1	NM_000911	
CLSPN	63967	hgsc.bcm.edu	37	1	36226207	36226207	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr1:36226207G>A	ENST00000318121.3	-	8	1372	c.1315C>T	c.(1315-1317)Cac>Tac	p.H439Y	CLSPN_ENST00000520551.1_Missense_Mutation_p.H439Y|CLSPN_ENST00000373220.3_Missense_Mutation_p.H439Y|CLSPN_ENST00000251195.5_Missense_Mutation_p.H439Y	NM_022111.3	NP_071394.2	Q9HAW4	CLSPN_HUMAN	claspin	439			H -> R (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|mitotic DNA replication checkpoint (GO:0033314)|peptidyl-serine phosphorylation (GO:0018105)	nucleoplasm (GO:0005654)	anaphase-promoting complex binding (GO:0010997)|DNA binding (GO:0003677)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TCCTCACTGTGATTGTTCCCG	0.488																																																	0			1											170.0	154.0	160.0					1																	36226207		2203	4300	6503	35998794	SO:0001583	missense	63967			AF297866	CCDS396.1, CCDS53297.1	1p34.3	2010-06-24	2010-06-24		ENSG00000092853	ENSG00000092853			19715	protein-coding gene	gene with protein product		605434	"""claspin homolog (Xenopus laevis)"""			11090622, 12766152	Standard	NM_022111		Approved		uc001bzi.3	Q9HAW4	OTTHUMG00000004168	ENST00000318121.3:c.1315C>T	1.37:g.36226207G>A	ENSP00000312995:p.His439Tyr		35998794	A6NFL4|Q1RMC6|Q2KHM3|Q5VYG0|Q6P6H5|Q8IWI1	Missense_Mutation	SNP	ENST00000318121.3	37	CCDS396.1	.	.	.	.	.	.	.	.	.	.	G	0.037	-1.300172	0.01364	.	.	ENSG00000092853	ENST00000251195;ENST00000318121;ENST00000373220;ENST00000520551;ENST00000544356	T;T;T;T	0.22134	1.97;1.97;1.97;1.97	5.19	3.31	0.37934	.	1.421980	0.03724	N	0.252254	T	0.12860	0.0312	N	0.08118	0	0.09310	N	1	B;B	0.29085	0.037;0.232	B;B	0.31495	0.04;0.131	T	0.26189	-1.0110	10	0.49607	T	0.09	-0.374	3.8322	0.08879	0.1591:0.5763:0.1718:0.0928	.	439;439	Q9HAW4-2;Q9HAW4	.;CLSPN_HUMAN	Y	439	ENSP00000251195:H439Y;ENSP00000312995:H439Y;ENSP00000362317:H439Y;ENSP00000428848:H439Y	ENSP00000251195:H439Y	H	-	1	0	CLSPN	35998794	0.000000	0.05858	0.011000	0.14972	0.712000	0.41017	0.195000	0.17155	0.681000	0.31386	0.591000	0.81541	CAC		0.488	CLSPN-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377857.1	NM_022111	
C1orf109	54955	hgsc.bcm.edu	37	1	38155293	38155293	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr1:38155293T>C	ENST00000358011.4	-	2	449	c.260A>G	c.(259-261)aAg>aGg	p.K87R	CDCA8_ENST00000327331.2_5'Flank|C1orf109_ENST00000464085.1_Missense_Mutation_p.K87R|CDCA8_ENST00000373055.1_5'Flank	NM_017850.1	NP_060320.1	Q9NX04	CA109_HUMAN	chromosome 1 open reading frame 109	87										lung(2)|prostate(2)	4		Myeloproliferative disorder(586;0.0393)				TTCCCCTAGCTTGTCCAGGAC	0.522																																																	0			1											106.0	111.0	109.0					1																	38155293		2203	4300	6503	37927880	SO:0001583	missense	54955			AK000515	CCDS423.1	1p34.3	2012-06-21			ENSG00000116922	ENSG00000116922			26039	protein-coding gene	gene with protein product		614799				22548824	Standard	XM_005270979		Approved	FLJ20508	uc001cbp.3	Q9NX04	OTTHUMG00000004323	ENST00000358011.4:c.260A>G	1.37:g.38155293T>C	ENSP00000350704:p.Lys87Arg		37927880	D3DPT1|Q8WVD1	Missense_Mutation	SNP	ENST00000358011.4	37	CCDS423.1	.	.	.	.	.	.	.	.	.	.	T	11.03	1.519998	0.27211	.	.	ENSG00000116922	ENST00000358011	.	.	.	5.62	4.49	0.54785	.	0.365437	0.32430	N	0.006107	T	0.41558	0.1164	M	0.70275	2.135	0.24205	N	0.995499	P;B;P	0.42296	0.775;0.29;0.775	B;B;B	0.42282	0.382;0.202;0.382	T	0.40627	-0.9553	9	0.44086	T	0.13	-18.6144	6.1916	0.20528	0.1417:0.077:0.0:0.7812	.	150;87;149	B7Z9X8;Q9NX04;B4DRQ5	.;CA109_HUMAN;.	R	87	.	ENSP00000350704:K87R	K	-	2	0	C1orf109	37927880	1.000000	0.71417	0.959000	0.39883	0.195000	0.23768	1.474000	0.35398	0.950000	0.37743	0.533000	0.62120	AAG		0.522	C1orf109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012486.1	NM_017850	
ZNF684	127396	hgsc.bcm.edu	37	1	41012779	41012779	+	Missense_Mutation	SNP	G	G	A	rs201288463		TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr1:41012779G>A	ENST00000372699.3	+	5	1035	c.784G>A	c.(784-786)Gtg>Atg	p.V262M	ZNF684_ENST00000493756.1_3'UTR	NM_152373.3	NP_689586.3	Q5T5D7	ZN684_HUMAN	zinc finger protein 684	262					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|kidney(2)|lung(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;5.42e-18)			TAATCAACACGTGAAATCTCA	0.408													G|||	1	0.000199681	0.0	0.0014	5008	,	,		20967	0.0		0.0	False		,,,				2504	0.0																0			1											52.0	53.0	53.0					1																	41012779		2203	4300	6503	40785366	SO:0001583	missense	127396				CCDS454.1	1p34.2	2013-01-08			ENSG00000117010	ENSG00000117010		"""Zinc fingers, C2H2-type"", ""-"""	28418	protein-coding gene	gene with protein product	"""hypothetical protein MGC27466"""					12477932	Standard	NM_152373		Approved	MGC27466	uc001cft.2	Q5T5D7	OTTHUMG00000007359	ENST00000372699.3:c.784G>A	1.37:g.41012779G>A	ENSP00000361784:p.Val262Met		40785366	Q2NKY4	Missense_Mutation	SNP	ENST00000372699.3	37	CCDS454.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	9.798	1.179637	0.21787	.	.	ENSG00000117010	ENST00000372699	T	0.16457	2.34	4.28	1.03	0.20045	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.255793	0.20583	N	0.089500	T	0.06462	0.0166	N	0.03281	-0.365	0.26453	N	0.975577	B	0.26672	0.156	B	0.19946	0.027	T	0.27971	-1.0058	10	0.72032	D	0.01	.	7.0998	0.25330	0.1029:0.4656:0.4315:0.0	.	262	Q5T5D7	ZN684_HUMAN	M	262	ENSP00000361784:V262M	ENSP00000361784:V262M	V	+	1	0	ZNF684	40785366	0.016000	0.18221	0.934000	0.37439	0.951000	0.60555	0.639000	0.24690	0.530000	0.28619	0.585000	0.79938	GTG		0.408	ZNF684-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019260.3	NM_152373	
C1orf228	339541	hgsc.bcm.edu	37	1	45166614	45166614	+	Silent	SNP	A	A	G			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr1:45166614A>G	ENST00000458657.2	+	6	769	c.462A>G	c.(460-462)gaA>gaG	p.E154E	C1orf228_ENST00000444751.1_3'UTR|C1orf228_ENST00000535358.1_Silent_p.E154E			Q6PIY5	CA228_HUMAN	chromosome 1 open reading frame 228	154										central_nervous_system(1)	1						CCATAGCAGAATTTTTGGCAA	0.398																																																	0			1											62.0	55.0	57.0					1																	45166614		692	1591	2283	44939201	SO:0001819	synonymous_variant	339541			AL122004, AY254217, BC026115	CCDS53311.1	1p34.1	2011-02-22	2009-03-17	2009-03-17	ENSG00000198520	ENSG00000198520			34345	protein-coding gene	gene with protein product			"""non-protein coding RNA 82"""	NCRNA00082		12477932	Standard	NM_001145636		Approved	MGC33556, p40	uc001cmf.2	Q6PIY5	OTTHUMG00000007834	ENST00000458657.2:c.462A>G	1.37:g.45166614A>G			44939201	A1KXE5	Silent	SNP	ENST00000458657.2	37	CCDS53311.1	.	.	.	.	.	.	.	.	.	.	A	9.372	1.070744	0.20147	.	.	ENSG00000198520	ENST00000434068	.	.	.	6.11	1.29	0.21616	.	.	.	.	.	T	0.57431	0.2053	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50206	-0.8855	4	.	.	.	-6.9182	9.1617	0.37028	0.5672:0.0:0.4328:0.0	.	.	.	.	V	21	.	.	I	+	1	0	C1orf228	44939201	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.870000	0.28010	0.187000	0.20147	0.533000	0.62120	ATT		0.398	C1orf228-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023125.2	NM_001145636	
LHX8	431707	hgsc.bcm.edu	37	1	75622741	75622741	+	Missense_Mutation	SNP	C	C	T	rs34889650	byFrequency	TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr1:75622741C>T	ENST00000294638.5	+	9	1638	c.974C>T	c.(973-975)gCg>gTg	p.A325V	LHX8_ENST00000356261.3_Missense_Mutation_p.A315V	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	325					female gonad development (GO:0008585)|forebrain neuron development (GO:0021884)|learning or memory (GO:0007611)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	female germ cell nucleus (GO:0001674)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						ATGTTAACTGCGCTGCATAGT	0.453													C|||	7	0.00139776	0.0008	0.0014	5008	,	,		19239	0.0		0.003	False		,,,				2504	0.002																0			1						C	VAL/ALA	2,4404	4.2+/-10.8	0,2,2201	189.0	170.0	176.0		974	5.4	1.0	1	dbSNP_126	176	18,8582	13.3+/-46.6	0,18,4282	yes	missense	LHX8	NM_001001933.1	64	0,20,6483	TT,TC,CC		0.2093,0.0454,0.1538	possibly-damaging	325/357	75622741	20,12986	2203	4300	6503	75395329	SO:0001583	missense	431707			AB050476	CCDS30756.1, CCDS58008.1	1p31.1	2011-06-20			ENSG00000162624	ENSG00000162624		"""Homeoboxes / LIM class"""	28838	protein-coding gene	gene with protein product		604425				9598319	Standard	NM_001256114		Approved	Lhx7	uc031pmx.1	Q68G74	OTTHUMG00000009692	ENST00000294638.5:c.974C>T	1.37:g.75622741C>T	ENSP00000294638:p.Ala325Val		75395329	E9PGE3	Missense_Mutation	SNP	ENST00000294638.5	37	CCDS30756.1	4	0.0018315018315018315	0	0.0	1	0.0027624309392265192	0	0.0	3	0.00395778364116095	C	25.0	4.594322	0.86953	4.54E-4	0.002093	ENSG00000162624	ENST00000294638;ENST00000356261	D;D	0.86956	-2.19;-2.17	5.36	5.36	0.76844	.	0.046555	0.85682	D	0.000000	D	0.88522	0.6459	L	0.50333	1.59	0.58432	D	0.999995	D	0.71674	0.998	P	0.57679	0.825	D	0.87195	0.2237	10	0.42905	T	0.14	.	19.4798	0.95005	0.0:1.0:0.0:0.0	rs34889650	325	Q68G74	LHX8_HUMAN	V	325;315	ENSP00000294638:A325V;ENSP00000348597:A315V	ENSP00000294638:A325V	A	+	2	0	LHX8	75395329	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	7.263000	0.78421	2.683000	0.91414	0.557000	0.71058	GCG		0.453	LHX8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026700.1	NM_001001933	
ASB17	127247	hgsc.bcm.edu	37	1	76397610	76397610	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr1:76397610G>A	ENST00000284142.6	-	1	506	c.367C>T	c.(367-369)Caa>Taa	p.Q123*		NM_080868.2	NP_543144.1	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box containing 17	123					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						CTTCTGTCTTGAACATAGTCT	0.348																																																	0			1											57.0	56.0	56.0					1																	76397610		2203	4299	6502	76170198	SO:0001587	stop_gained	127247			AF403035	CCDS671.1	1p22.3	2013-01-11	2011-01-25		ENSG00000154007	ENSG00000154007		"""Ankyrin repeat domain containing"""	19769	protein-coding gene	gene with protein product			"""ankyrin repeat and SOCS box-containing 17"""			12076535	Standard	NM_080868		Approved		uc001dhe.2	Q8WXJ9	OTTHUMG00000009787	ENST00000284142.6:c.367C>T	1.37:g.76397610G>A	ENSP00000284142:p.Gln123*		76170198	B1APB8|Q8N0X5	Nonsense_Mutation	SNP	ENST00000284142.6	37	CCDS671.1	.	.	.	.	.	.	.	.	.	.	G	37	6.448354	0.97577	.	.	ENSG00000154007	ENST00000284142	.	.	.	5.97	5.97	0.96955	.	0.000000	0.52532	D	0.000080	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.9063	0.79433	0.0:0.0:1.0:0.0	.	.	.	.	X	123	.	ENSP00000284142:Q123X	Q	-	1	0	ASB17	76170198	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.427000	0.52785	2.831000	0.97527	0.655000	0.94253	CAA		0.348	ASB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026982.1	NM_080868	
SPTA1	6708	hgsc.bcm.edu	37	1	158589083	158589083	+	Silent	SNP	G	G	T			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr1:158589083G>T	ENST00000368147.4	-	45	6639	c.6459C>A	c.(6457-6459)gtC>gtA	p.V2153V		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2153					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CAAAGTTCTTGACCTGTCTTG	0.473																																																	0			1											286.0	278.0	281.0					1																	158589083		2013	4176	6189	156855707	SO:0001819	synonymous_variant	6708			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.6459C>A	1.37:g.158589083G>T			156855707	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	ENST00000368147.4	37	CCDS41423.1																																																																																				0.473	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126	
MPZ	4359	hgsc.bcm.edu	37	1	161276172	161276172	+	Silent	SNP	G	G	A			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr1:161276172G>A	ENST00000533357.1	-	4	597	c.531C>T	c.(529-531)taC>taT	p.Y177Y	MPZ_ENST00000526189.1_5'UTR|MPZ_ENST00000491222.2_De_novo_Start_OutOfFrame|MPZ_ENST00000360451.6_Silent_p.Y187Y|MPZ_ENST00000336559.4_Silent_p.Y177Y	NM_000530.6	NP_000521.2	P25189	MYP0_HUMAN	myelin protein zero	177					cell death (GO:0008219)|cell-cell junction maintenance (GO:0045217)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	10	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)	Breast(1374;0.181)	BRCA - Breast invasive adenocarcinoma(70;0.00376)			ACCGAACCACGTAGAAAAGCA	0.642																																																	0			1											110.0	98.0	102.0					1																	161276172		2203	4300	6503	159542796	SO:0001819	synonymous_variant	4359			BC006491	CCDS1229.1, CCDS1229.2	1q22	2014-09-17	2008-08-01		ENSG00000158887	ENSG00000158887		"""Immunoglobulin superfamily / V-set domain containing"""	7225	protein-coding gene	gene with protein product		159440	"""Charcot-Marie-Tooth neuropathy 1B"""	CMT1, CMT1B		7693129	Standard	NM_000530		Approved	HMSNIB	uc001gaf.4	P25189	OTTHUMG00000034341	ENST00000533357.1:c.531C>T	1.37:g.161276172G>A			159542796	Q16072|Q5VTH4|Q92677|Q9BR67	Silent	SNP	ENST00000533357.1	37	CCDS1229.2																																																																																				0.642	MPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082987.2	NM_000530	
TNR	7143	hgsc.bcm.edu	37	1	175355235	175355235	+	Silent	SNP	G	G	A			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr1:175355235G>A	ENST00000367674.2	-	8	2418	c.1710C>T	c.(1708-1710)taC>taT	p.Y570Y	TNR_ENST00000263525.2_Silent_p.Y570Y			Q92752	TENR_HUMAN	tenascin R	570	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CTGACACCTCGTATCGGGAGC	0.632																																																	0			1											74.0	70.0	72.0					1																	175355235		2203	4300	6503	173621858	SO:0001819	synonymous_variant	7143			X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.1710C>T	1.37:g.175355235G>A			173621858	C9J563|Q15568|Q5R3G0	Silent	SNP	ENST00000367674.2	37	CCDS1318.1																																																																																				0.632	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285	
AVPR1B	553	hgsc.bcm.edu	37	1	206230986	206230986	+	Silent	SNP	G	G	A	rs28676508	byFrequency	TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr1:206230986G>A	ENST00000367126.4	+	2	1584	c.1119G>A	c.(1117-1119)tcG>tcA	p.S373S		NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	373					activation of phospholipase C activity (GO:0007202)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	GCAGCCTCTCGAGCCGCCACA	0.701													G|||	1203	0.240216	0.4962	0.1225	5008	,	,		12235	0.0923		0.1312	False		,,,				2504	0.2423																0			1						G		1866,2526		424,1018,754	13.0	15.0	14.0		1119	-4.5	0.2	1	dbSNP_125	14	1019,7549		71,877,3336	no	coding-synonymous	AVPR1B	NM_000707.3		495,1895,4090	AA,AG,GG		11.8931,42.4863,22.2608		373/425	206230986	2885,10075	2196	4284	6480	204397609	SO:0001819	synonymous_variant	553			D31833	CCDS73015.1	1q32	2014-05-06			ENSG00000198049	ENSG00000198049		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	896	protein-coding gene	gene with protein product		600264		AVPR3		7929452, 8586456	Standard	NM_000707		Approved		uc001hds.2	P47901	OTTHUMG00000184377	ENST00000367126.4:c.1119G>A	1.37:g.206230986G>A			204397609	B0M0J6|Q5TZ00	Silent	SNP	ENST00000367126.4	37	CCDS30994.1																																																																																				0.701	AVPR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087996.1	NM_000707	
CDC42BPA	8476	hgsc.bcm.edu	37	1	227279611	227279611	+	Silent	SNP	T	T	C			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr1:227279611T>C	ENST00000366769.3	-	16	3622	c.2331A>G	c.(2329-2331)aaA>aaG	p.K777K	CDC42BPA_ENST00000366765.3_Silent_p.K777K|CDC42BPA_ENST00000366767.3_Silent_p.K696K|CDC42BPA_ENST00000366764.2_Silent_p.K777K|CDC42BPA_ENST00000334218.5_Silent_p.K777K|CDC42BPA_ENST00000535525.1_Silent_p.K777K|CDC42BPA_ENST00000366766.2_Silent_p.K777K	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)											NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				TCGTCAGCTTTTTATTTTCTT	0.328																																																	0			1											190.0	179.0	183.0					1																	227279611		2201	4296	6497	225346234	SO:0001819	synonymous_variant	8476			U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"""myotonic dystrophy kinase-related Cdc42-binding kinase"""	603412	"""CDC42-binding protein kinase alpha (DMPK-like)"""				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.2331A>G	1.37:g.227279611T>C			225346234		Silent	SNP	ENST00000366769.3	37	CCDS1558.1	.	.	.	.	.	.	.	.	.	.	T	9.506	1.104396	0.20632	.	.	ENSG00000143776	ENST00000442054	T	0.46819	0.86	5.09	2.74	0.32292	.	0.000000	0.85682	D	0.000000	T	0.39410	0.1077	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.06075	-1.0847	7	0.15499	T	0.54	.	9.4197	0.38544	0.0:0.213:0.0:0.7869	.	.	.	.	E	71	ENSP00000401051:K71E	ENSP00000401051:K71E	K	-	1	0	CDC42BPA	225346234	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.530000	0.23036	0.357000	0.24183	0.455000	0.32223	AAA		0.328	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1	NM_014826	
FMN2	56776	hgsc.bcm.edu	37	1	240371304	240371304	+	Silent	SNP	T	T	C	rs71646894		TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr1:240371304T>C	ENST00000319653.9	+	5	3422	c.3192T>C	c.(3190-3192)ccT>ccC	p.P1064P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1064	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CGGGCATACCTCCTCCACCCC	0.741																																																	0			1											1.0	1.0	1.0					1																	240371304		861	1841	2702	238437927	SO:0001819	synonymous_variant	56776			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.3192T>C	1.37:g.240371304T>C			238437927	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	CCDS31069.2																																																																																				0.741	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352	
FMN2	56776	hgsc.bcm.edu	37	1	240371373	240371373	+	Silent	SNP	A	A	T	rs199766654	byFrequency	TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr1:240371373A>T	ENST00000319653.9	+	5	3491	c.3261A>T	c.(3259-3261)ccA>ccT	p.P1087P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1087	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GCATACCCCCACCTCCCCCTC	0.726																																																	0			1											4.0	5.0	4.0					1																	240371373		1745	3543	5288	238437996	SO:0001819	synonymous_variant	56776			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.3261A>T	1.37:g.240371373A>T			238437996	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	CCDS31069.2																																																																																				0.726	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352	
FMN2	56776	hgsc.bcm.edu	37	1	240371426	240371426	+	Missense_Mutation	SNP	T	T	C	rs200640213	byFrequency	TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr1:240371426T>C	ENST00000319653.9	+	5	3544	c.3314T>C	c.(3313-3315)gTg>gCg	p.V1105A		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1105	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CTACCCGGAGTGGGCATACCT	0.736													-|||	349	0.0696885	0.0605	0.049	5008	,	,		2970	0.0724		0.0974	False		,,,				2504	0.0654																0			1						C	ALA/VAL	89,4025		0,89,1968	8.0	11.0	10.0		3314	-4.6	0.0	1		10	380,7864		4,372,3746	no	missense	FMN2	NM_020066.4	64	4,461,5714	CC,CT,TT		4.6094,2.1633,3.7951	benign	1105/1723	240371426	469,11889	2057	4122	6179	238438049	SO:0001583	missense	56776			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.3314T>C	1.37:g.240371426T>C	ENSP00000318884:p.Val1105Ala		238438049	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	t	6.825	0.521456	0.13005	0.021633	0.046094	ENSG00000155816	ENST00000319653	T	0.54071	0.59	3.44	-4.56	0.03431	Actin-binding FH2/DRF autoregulatory (1);Formin Homology 1 (2);	2.607690	0.02057	N	0.050513	T	0.04363	0.0120	N	0.04335	-0.225	0.09310	N	1	B	0.23650	0.089	B	0.25614	0.062	T	0.03576	-1.1023	9	.	.	.	.	4.0237	0.09677	0.2447:0.3179:0.0:0.4374	.	1105	Q9NZ56	FMN2_HUMAN	A	1105	ENSP00000318884:V1105A	.	V	+	2	0	FMN2	238438049	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.925000	0.01564	-1.108000	0.03000	-2.277000	0.00273	GTG		0.736	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352	
IFITM2	10581	hgsc.bcm.edu	37	11	308314	308314	+	Missense_Mutation	SNP	T	T	C	rs14408	byFrequency	TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr11:308314T>C	ENST00000399817.4	+	1	152	c.122T>C	c.(121-123)aTg>aCg	p.M41T	RP11-326C3.7_ENST00000526612.1_RNA|IFITM2_ENST00000533141.1_Missense_Mutation_p.M21T|IFITM2_ENST00000602569.1_Missense_Mutation_p.M21T	NM_006435.2	NP_006426.2	Q01629	IFM2_HUMAN	interferon induced transmembrane protein 2	41			M -> T (in dbSNP:rs14408). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:1906403}.		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)|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)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4		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;5.73e-28)|Epithelial(43;3.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.14e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0328)|LUSC - Lung squamous cell carcinoma(625;0.122)		GCTCCCCCGATGTCCACCGTG	0.607													t|||	3531	0.705072	0.7617	0.6657	5008	,	,		14037	0.9593		0.3787	False		,,,				2504	0.7301																0			11						T	THR/MET	2520,1396		857,806,295	63.0	88.0	80.0		122	-2.8	0.0	11	dbSNP_52	80	3019,5275		590,1839,1718	no	missense	IFITM2	NM_006435.2	81	1447,2645,2013	CC,CT,TT		36.3998,35.6486,45.3645	benign	41/133	308314	5539,6671	1958	4147	6105	298314	SO:0001583	missense	10581			X57351	CCDS41583.1	11p15.5	2012-03-13	2012-03-13		ENSG00000185201	ENSG00000185201			5413	protein-coding gene	gene with protein product		605578	"""interferon induced transmembrane protein 2 (1-8D)"""			1906403	Standard	NM_006435		Approved	1-8D	uc001lox.4	Q01629		ENST00000399817.4:c.122T>C	11.37:g.308314T>C	ENSP00000382714:p.Met41Thr		298314	Q6FH82|Q96DA8	Missense_Mutation	SNP	ENST00000399817.4	37	CCDS41583.1	1298	0.5943223443223443	337	0.6849593495934959	199	0.5497237569060773	523	0.9143356643356644	239	0.3153034300791557	T	0.004	-2.266536	0.00259	0.643514	0.363998	ENSG00000185201	ENST00000533141;ENST00000399817;ENST00000327366	T;T	0.76709	-1.04;-0.8	2.59	-2.76	0.05896	.	1.327100	0.06148	N	0.673694	T	0.00012	0.0000	N	0.00010	-3.02	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.45644	-0.9247	9	0.02654	T	1	2.4836	3.407	0.07344	0.3221:0.496:0.0:0.1819	rs14408;rs3179090;rs17850538;rs58885107;rs14408	41	Q01629	IFM2_HUMAN	T	21;41;41	ENSP00000434443:M21T;ENSP00000382714:M41T	ENSP00000327996:M41T	M	+	2	0	IFITM2	298314	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-2.620000	0.00879	-0.998000	0.03446	-3.056000	0.00068	ATG		0.607	IFITM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383591.1	NM_006435	
MUC2	4583	hgsc.bcm.edu	37	11	1092928	1092928	+	Missense_Mutation	SNP	T	T	A	rs12791677		TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr11:1092928T>A	ENST00000441003.2	+	30	4774	c.4747T>A	c.(4747-4749)Tcg>Acg	p.S1583T	MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000359061.5_Missense_Mutation_p.S1584T|MUC2_ENST00000361558.6_Intron	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)	gaccccaacatcgacacccat	0.632																																																	0			11																																								1082928	SO:0001583	missense	4583			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.4747T>A	11.37:g.1092928T>A	ENSP00000415183:p.Ser1583Thr		1082928	Q14878	Missense_Mutation	SNP	ENST00000441003.2	37		.	.	.	.	.	.	.	.	.	.	T	0.629	-0.817927	0.02776	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.12255	2.7;3.41	1.75	-3.51	0.04696	.	3.022220	0.02729	N	0.114829	T	0.06005	0.0156	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.29119	-1.0022	9	0.12766	T	0.61	.	0.5592	0.00676	0.2873:0.3401:0.1565:0.2162	.	1583	E7EUV1	.	T	1583;1584	ENSP00000415183:S1583T;ENSP00000351956:S1584T	ENSP00000351956:S1584T	S	+	1	0	MUC2	1082928	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-3.679000	0.00395	-2.640000	0.00429	-1.550000	0.00899	TCG		0.632	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457	
MUC5B	727897	hgsc.bcm.edu	37	11	1272035	1272035	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr11:1272035T>C	ENST00000529681.1	+	31	13983	c.13925T>C	c.(13924-13926)aTc>aCc	p.I4642T	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.I4645T	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4642	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				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)		ccctcctccatcccggggacc	0.627																																																	0			11											118.0	147.0	138.0					11																	1272035		2126	4210	6336	1228611	SO:0001583	missense	727897			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.13925T>C	11.37:g.1272035T>C	ENSP00000436812:p.Ile4642Thr		1228611	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	-	3.318	-0.139430	0.06669	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637	T;T	0.15718	2.4;2.58	1.53	-0.671	0.11381	.	.	.	.	.	T	0.07999	0.0200	N	0.11201	0.11	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.32161	-0.9917	9	0.87932	D	0	.	4.3731	0.11258	0.0:0.358:0.0:0.642	.	4645	E9PBJ0	.	T	4642;4645;4586	ENSP00000436812:I4642T;ENSP00000415793:I4645T	ENSP00000343037:I4586T	I	+	2	0	MUC5B	1228611	0.000000	0.05858	0.001000	0.08648	0.155000	0.21991	-1.321000	0.02697	-0.012000	0.14223	0.155000	0.16302	ATC		0.627	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093	
KRTAP5-5	439915	hgsc.bcm.edu	37	11	1651169	1651169	+	Silent	SNP	T	T	C	rs71454095	byFrequency	TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr11:1651169T>C	ENST00000399676.2	+	1	137	c.99T>C	c.(97-99)tcT>tcC	p.S33S		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	33						keratin filament (GO:0045095)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		gctgtggctctggctgtgggg	0.721													N|||	2639	0.526957	0.643	0.4827	5008	,	,		7432	0.4018		0.5527	False		,,,				2504	0.5041																0			11						C		2322,1648		759,804,422	20.0	30.0	27.0		99	-1.5	0.0	11	dbSNP_130	27	4372,3646		1321,1730,958	no	coding-synonymous	KRTAP5-5	NM_001001480.2		2080,2534,1380	CC,CT,TT		45.4727,41.5113,44.1608		33/238	1651169	6694,5294	1985	4009	5994	1607745	SO:0001819	synonymous_variant	440051			AB125074	CCDS41592.1	11p15.5	2008-10-30			ENSG00000185940	ENSG00000185940		"""Keratin associated proteins"""	23601	protein-coding gene	gene with protein product						15144888	Standard	NM_001001480		Approved	KRTAP5.5, KRTAP5-11	uc001lty.3	Q701N2	OTTHUMG00000057554	ENST00000399676.2:c.99T>C	11.37:g.1651169T>C			1607745	A8MWN2	Silent	SNP	ENST00000399676.2	37	CCDS41592.1																																																																																				0.721	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127919.1		
ST5	6764	hgsc.bcm.edu	37	11	8751577	8751577	+	Silent	SNP	A	A	G	rs200801002	byFrequency	TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr11:8751577A>G	ENST00000534127.1	-	6	1645	c.1260T>C	c.(1258-1260)ccT>ccC	p.P420P	ST5_ENST00000526757.1_Intron|ST5_ENST00000357665.1_Silent_p.P420P|ST5_ENST00000530438.1_Intron|ST5_ENST00000313726.6_Silent_p.P420P	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	420	Interaction with ABL1.|Pro-rich.				positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		AGGGCAAGGGAGGTGGAGCAG	0.602													G|||	24	0.00479233	0.0	0.0014	5008	,	,		16036	0.0		0.0	False		,,,				2504	0.0235																0			11											238.0	223.0	228.0					11																	8751577		2201	4296	6497	8708153	SO:0001819	synonymous_variant	6764			U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444		"""DENN/MADD domain containing"""	11350	protein-coding gene	gene with protein product	"""DENN/MADD domain containing 2B"""	140750				1390339	Standard	NM_005418		Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.1260T>C	11.37:g.8751577A>G			8708153	B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Silent	SNP	ENST00000534127.1	37	CCDS7791.1																																																																																				0.602	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386518.1	NM_005418	
TBC1D10C	374403	hgsc.bcm.edu	37	11	67176971	67176971	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr11:67176971C>T	ENST00000542590.1	+	9	1101	c.1087C>T	c.(1087-1089)Cgg>Tgg	p.R363W	TBC1D10C_ENST00000526387.1_Missense_Mutation_p.P298L|TBC1D10C_ENST00000312390.5_Missense_Mutation_p.R363W			Q8IV04	TB10C_HUMAN	TBC1 domain family, member 10C	363					retrograde transport, endosome to Golgi (GO:0042147)	filopodium membrane (GO:0031527)|membrane (GO:0016020)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			ACCCCCGCCCCGGCCACAGGT	0.711																																																	0			11											3.0	4.0	3.0					11																	67176971		1723	3399	5122	66933547	SO:0001583	missense	374403			BC035630	CCDS8162.1, CCDS58150.1	11q13.1	2013-07-09			ENSG00000175463	ENSG00000175463			24702	protein-coding gene	gene with protein product		610831				17230191, 20404108	Standard	NM_001256508		Approved	FLJ00332, Carabin, EPI64C	uc001ola.4	Q8IV04	OTTHUMG00000167139	ENST00000542590.1:c.1087C>T	11.37:g.67176971C>T	ENSP00000443654:p.Arg363Trp		66933547	G3V1D6	Missense_Mutation	SNP	ENST00000542590.1	37	CCDS8162.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.551|9.551	1.115972|1.115972	0.20795|0.20795	.|.	.|.	ENSG00000175463|ENSG00000175463	ENST00000526387|ENST00000312390;ENST00000542590	.|T;T	.|0.07908	.|3.15;3.15	4.92|4.92	1.65|1.65	0.23941|0.23941	.|.	.|0.688838	.|0.12377	.|N	.|0.474252	T|T	0.10680|0.10680	0.0261|0.0261	L|L	0.46157|0.46157	1.445|1.445	0.09310|0.09310	N|N	1|1	B|D	0.31680|0.56746	0.335|0.977	B|P	0.19148|0.44860	0.024|0.462	T|T	0.19484|0.19484	-1.0304|-1.0304	8|10	0.87932|0.87932	D|D	0|0	.|.	11.4415|11.4415	0.50100|0.50100	0.662:0.3379:0.0:0.0|0.662:0.3379:0.0:0.0	.|.	298|363	G3V1D6|Q8IV04	.|TB10C_HUMAN	L|W	298|363	.|ENSP00000310193:R363W;ENSP00000443654:R363W	ENSP00000435543:P298L|ENSP00000310193:R363W	P|R	+|+	2|1	0|2	TBC1D10C|TBC1D10C	66933547|66933547	0.001000|0.001000	0.12720|0.12720	0.004000|0.004000	0.12327|0.12327	0.032000|0.032000	0.12392|0.12392	0.736000|0.736000	0.26130|0.26130	0.618000|0.618000	0.30179|0.30179	0.462000|0.462000	0.41574|0.41574	CCG|CGG		0.711	TBC1D10C-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395492.2	NM_198517	
GPR152	390212	hgsc.bcm.edu	37	11	67219263	67219263	+	Silent	SNP	C	C	T	rs148579956		TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr11:67219263C>T	ENST00000312457.2	-	1	937	c.933G>A	c.(931-933)tcG>tcA	p.S311S	CABP4_ENST00000438189.2_5'Flank	NM_206997.1	NP_996880.1	Q8TDT2	GP152_HUMAN	G protein-coupled receptor 152	311						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			CCGCGAAGGACGAGAGCACGG	0.642																																					Pancreas(102;800 1581 2723 7382 33622)												0			11						C		0,4400		0,0,2200	54.0	53.0	53.0		933	2.7	1.0	11	dbSNP_134	53	1,8589	1.2+/-3.3	0,1,4294	no	coding-synonymous	GPR152	NM_206997.1		0,1,6494	TT,TC,CC		0.0116,0.0,0.0077		311/471	67219263	1,12989	2200	4295	6495	66975839	SO:0001819	synonymous_variant	390212			AY255600	CCDS8165.1	11q13.2	2013-09-20			ENSG00000175514	ENSG00000175514		"""GPCR / Class A : Orphans"""	23622	protein-coding gene	gene with protein product						12679517	Standard	NM_206997		Approved	PGR5	uc001olm.3	Q8TDT2	OTTHUMG00000168032	ENST00000312457.2:c.933G>A	11.37:g.67219263C>T			66975839	Q0VD88|Q86SM0	Silent	SNP	ENST00000312457.2	37	CCDS8165.1																																																																																				0.642	GPR152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397623.1		
MRGPRF	116535	hgsc.bcm.edu	37	11	68772923	68772923	+	Silent	SNP	G	G	A			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr11:68772923G>A	ENST00000309099.6	-	3	1237	c.855C>T	c.(853-855)agC>agT	p.S285S	RP11-554A11.5_ENST00000562506.1_RNA|MRGPRF_ENST00000441623.1_Silent_p.S285S	NM_145015.4	NP_659452.3	Q96AM1	MRGRF_HUMAN	MAS-related GPR, member F	285						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|lung(4)	7			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TGGGCTTGGCGCTGCTGTTGA	0.642																																																	0			11											33.0	26.0	29.0					11																	68772923		2195	4289	6484	68529499	SO:0001819	synonymous_variant	116535			AK075492	CCDS8188.1	11q13.1	2014-03-13	2004-03-25		ENSG00000172935	ENSG00000172935		"""GPCR / Class A : Orphans"""	24828	protein-coding gene	gene with protein product		607233	"""G protein-coupled receptor 168"", ""G protein-coupled receptor 140"""	GPR168, GPR140		12477932	Standard	NM_001098515		Approved	MGC21621, mrgF	uc001oop.4	Q96AM1	OTTHUMG00000167897	ENST00000309099.6:c.855C>T	11.37:g.68772923G>A			68529499	B3KV43|Q8NBK8	Silent	SNP	ENST00000309099.6	37	CCDS8188.1																																																																																				0.642	MRGPRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396875.1	NM_145015	
KRTAP5-8	57830	hgsc.bcm.edu	37	11	71249125	71249125	+	Silent	SNP	A	A	G	rs537752041|rs113379698|rs55848980	byFrequency	TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr11:71249125A>G	ENST00000398534.3	+	1	55	c.24A>G	c.(22-24)ggA>ggG	p.G8G		NM_021046.2	NP_066384.2	O75690	KRA58_HUMAN	keratin associated protein 5-8	8						keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						GCTGCTCTGGAGGCTGTGGCT	0.652																																																	0			11											47.0	66.0	60.0					11																	71249125		2189	4280	6469	70926773	SO:0001819	synonymous_variant	440021			AB126077	CCDS41683.1	11q13.4	2008-02-05			ENSG00000241233	ENSG00000241233		"""Keratin associated proteins"""	23603	protein-coding gene	gene with protein product						15144888	Standard	NM_021046		Approved	KRTAP5.8, UHSKerB, KRTAP5-2	uc001oqr.1	O75690	OTTHUMG00000057571	ENST00000398534.3:c.24A>G	11.37:g.71249125A>G			70926773	Q6L8G7|Q6UTX6	Silent	SNP	ENST00000398534.3	37	CCDS41683.1																																																																																				0.652	KRTAP5-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127954.1	NM_021046	
KRTAP5-8	57830	hgsc.bcm.edu	37	11	71249569	71249569	+	Silent	SNP	A	A	G			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr11:71249569A>G	ENST00000398534.3	+	1	499	c.468A>G	c.(466-468)tcA>tcG	p.S156S		NM_021046.2	NP_066384.2	O75690	KRA58_HUMAN	keratin associated protein 5-8	156	9 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						GCTGCTCTTCAGGCTGTGGGT	0.607																																																	0			11											158.0	164.0	162.0					11																	71249569		2200	4294	6494	70927217	SO:0001819	synonymous_variant	440021			AB126077	CCDS41683.1	11q13.4	2008-02-05			ENSG00000241233	ENSG00000241233		"""Keratin associated proteins"""	23603	protein-coding gene	gene with protein product						15144888	Standard	NM_021046		Approved	KRTAP5.8, UHSKerB, KRTAP5-2	uc001oqr.1	O75690	OTTHUMG00000057571	ENST00000398534.3:c.468A>G	11.37:g.71249569A>G			70927217	Q6L8G7|Q6UTX6	Silent	SNP	ENST00000398534.3	37	CCDS41683.1																																																																																				0.607	KRTAP5-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127954.1	NM_021046	
MAML2	84441	hgsc.bcm.edu	37	11	95825383	95825383	+	Silent	SNP	C	C	T	rs113349418|rs141671766|rs60727839	byFrequency	TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr11:95825383C>T	ENST00000524717.1	-	2	3096	c.1812G>A	c.(1810-1812)caG>caA	p.Q604Q		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	604					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				gttgctgctgctgctgctgct	0.527			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid																																			Dom	yes		11	11q22-q23	84441	mastermind-like 2 (Drosophila)		E	0			11											19.0	23.0	22.0					11																	95825383		1910	3681	5591	95465031	SO:0001819	synonymous_variant	84441			AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"""mastermind (Drosophila)-like 2"""			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.1812G>A	11.37:g.95825383C>T			95465031	A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Silent	SNP	ENST00000524717.1	37	CCDS44714.1																																																																																				0.527	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395540.1		
ATM	472	hgsc.bcm.edu	37	11	108117839	108117839	+	Silent	SNP	A	A	G			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr11:108117839A>G	ENST00000452508.2	+	9	1239	c.1050A>G	c.(1048-1050)gcA>gcG	p.A350A	ATM_ENST00000278616.4_Silent_p.A350A			Q13315	ATM_HUMAN	ATM serine/threonine kinase	350			A -> T (in B-cell chronic lymphocytic leukemia). {ECO:0000269|PubMed:10023947}.		brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	AATTGATGGCAGATATCTGTC	0.338			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																													yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"""L, O"""	0			11											60.0	61.0	60.0					11																	108117839		2201	4297	6498	107623049	SO:0001819	synonymous_variant	472	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.1050A>G	11.37:g.108117839A>G			107623049	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Silent	SNP	ENST00000452508.2	37	CCDS31669.1																																																																																				0.338	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051	
PHLDB1	23187	hgsc.bcm.edu	37	11	118514625	118514625	+	Silent	SNP	C	C	T	rs11216938	byFrequency	TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr11:118514625C>T	ENST00000361417.2	+	15	3396	c.2985C>T	c.(2983-2985)agC>agT	p.S995S	PHLDB1_ENST00000527898.1_Silent_p.S31S|PHLDB1_ENST00000356063.5_Silent_p.S948S|PHLDB1_ENST00000524713.1_Silent_p.S138S|PHLDB1_ENST00000534672.1_3'UTR	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	995										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		ccCAGCTCAGCGTGGCTACCC	0.692													C|||	1104	0.220447	0.1082	0.2118	5008	,	,		13682	0.2302		0.2157	False		,,,				2504	0.3732																0			11						C	,,	533,3867	223.3+/-239.8	32,469,1699	25.0	29.0	28.0		2985,2844,2985	-1.7	1.0	11	dbSNP_120	28	1851,6737	307.6+/-308.5	197,1457,2640	no	coding-synonymous,coding-synonymous,coding-synonymous	PHLDB1	NM_001144758.1,NM_001144759.1,NM_015157.2	,,	229,1926,4339	TT,TC,CC		21.5533,12.1136,18.3554	,,	995/1378,948/1320,995/1378	118514625	2384,10604	2200	4294	6494	118019835	SO:0001819	synonymous_variant	23187				CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"""Pleckstrin homology (PH) domain containing"""	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.2985C>T	11.37:g.118514625C>T			118019835	B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Silent	SNP	ENST00000361417.2	37	CCDS8401.1																																																																																				0.692	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1	NM_015157	
PRDM10	56980	hgsc.bcm.edu	37	11	129788540	129788540	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr11:129788540A>G	ENST00000360871.3	-	14	2339	c.2108T>C	c.(2107-2109)aTc>aCc	p.I703T	PRDM10_ENST00000528746.1_Missense_Mutation_p.I677T|PRDM10_ENST00000423662.2_Missense_Mutation_p.I621T|PRDM10_ENST00000304538.6_Missense_Mutation_p.I617T|PRDM10_ENST00000526082.1_Missense_Mutation_p.I621T|PRDM10_ENST00000358825.5_Missense_Mutation_p.I707T	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	707					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		GGAGCGGCTGATGCGGTCGGC	0.552																																																	0			11											257.0	236.0	243.0					11																	129788540		2201	4297	6498	129293750	SO:0001583	missense	56980			AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325		"""Zinc fingers, C2H2-type"""	13995	protein-coding gene	gene with protein product	"""PRDM zinc finger transcription factor"", ""PR-domain family member 7"", ""tristanin"""					12175877	Standard	NM_020228		Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000360871.3:c.2108T>C	11.37:g.129788540A>G	ENSP00000354118:p.Ile703Thr		129293750	B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Missense_Mutation	SNP	ENST00000360871.3	37	CCDS8484.1	.	.	.	.	.	.	.	.	.	.	A	13.59	2.281797	0.40394	.	.	ENSG00000170325	ENST00000358825;ENST00000304538;ENST00000360871;ENST00000423662;ENST00000528746;ENST00000526082;ENST00000533431	T;T;T;T;T;T;T	0.10477	2.89;2.89;2.9;2.87;2.93;2.87;2.96	5.79	4.65	0.58169	.	0.167749	0.52532	D	0.000079	T	0.05318	0.0141	N	0.08118	0	0.39721	D	0.971476	B;B;B;B;B;B	0.16396	0.001;0.001;0.001;0.001;0.017;0.001	B;B;B;B;B;B	0.14578	0.001;0.003;0.001;0.003;0.011;0.003	T	0.38672	-0.9650	10	0.29301	T	0.29	-13.2586	7.6159	0.28158	0.7875:0.1426:0.0698:0.0	.	617;703;707;621;617;621	B7ZL72;G3XAE5;Q9NQV6;Q9NQV6-5;Q9NQV6-2;Q9NQV6-1	.;.;PRD10_HUMAN;.;.;.	T	707;617;703;621;677;621;420	ENSP00000351686:I707T;ENSP00000302669:I617T;ENSP00000354118:I703T;ENSP00000398431:I621T;ENSP00000431262:I677T;ENSP00000432237:I621T;ENSP00000435940:I420T	ENSP00000302669:I617T	I	-	2	0	PRDM10	129293750	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.189000	0.58358	1.001000	0.39076	0.533000	0.62120	ATC		0.552	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1	NM_199437	
MUC21	394263	hgsc.bcm.edu	37	6	30954434	30954434	+	Missense_Mutation	SNP	A	A	G	rs9262337	byFrequency	TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr6:30954434A>G	ENST00000376296.3	+	2	723	c.482A>G	c.(481-483)gAg>gGg	p.E161G	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	161	28 X 15 AA approximate tandem repeats.|Ser-rich.		E -> G (in dbSNP:rs9262337). {ECO:0000269|PubMed:12975309, ECO:0000269|PubMed:14574404}.		cellular protein metabolic process (GO:0044267)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E161G(1)		NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						ACCTCCAGTGAGGCCAGCACA	0.617													G|||	458	0.0914537	0.093	0.1383	5008	,	,		25853	0.0685		0.0845	False		,,,				2504	0.0869																1	Substitution - Missense(1)	prostate(1)	6											144.0	135.0	138.0					6																	30954434		2202	4300	6502	31062413	SO:0001583	missense	394263			AK056612	CCDS34388.1	6p21.33	2008-05-14	2008-05-14	2008-05-14	ENSG00000204544	ENSG00000204544		"""Mucins"""	21661	protein-coding gene	gene with protein product	"""epiglycanin"""		"""chromosome 6 open reading frame 205"""	C6orf205		17977904	Standard	NM_001010909		Approved	bCX31G15.2	uc003nsh.2	Q5SSG8	OTTHUMG00000031216	ENST00000376296.3:c.482A>G	6.37:g.30954434A>G	ENSP00000365473:p.Glu161Gly		31062413	B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Missense_Mutation	SNP	ENST00000376296.3	37	CCDS34388.1	.	.	.	.	.	.	.	.	.	.	G	2.769	-0.256080	0.05829	.	.	ENSG00000204544	ENST00000450707;ENST00000376296	T	0.01178	5.22	3.76	-7.51	0.01346	.	.	.	.	.	T	0.00178	0.0005	N	0.04203	-0.255	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43015	-0.9417	8	.	.	.	3.8375	8.9823	0.35972	0.4863:0.3865:0.1271:0.0	rs9262337	161	Q5SSG8	MUC21_HUMAN	G	161	ENSP00000365473:E161G	.	E	+	2	0	MUC21	31062413	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-3.965000	0.00324	-2.460000	0.00537	-0.330000	0.08379	GAG		0.617	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000128579.3	NM_001010909	
ABCC10	89845	hgsc.bcm.edu	37	6	43400662	43400662	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr6:43400662A>G	ENST00000372530.4	+	3	1159	c.944A>G	c.(943-945)gAg>gGg	p.E315G	ABCC10_ENST00000244533.3_Missense_Mutation_p.E272G|ABCC10_ENST00000443426.2_Intron	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	315	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	TTCCTGGAAGAGGGGCAGGAG	0.607																																																	0			6											45.0	48.0	47.0					6																	43400662		2203	4300	6503	43508640	SO:0001583	missense	89845			U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"""ATP binding cassette transporters / subfamily C"""	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.944A>G	6.37:g.43400662A>G	ENSP00000361608:p.Glu315Gly		43508640	Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Missense_Mutation	SNP	ENST00000372530.4	37	CCDS56430.1	.	.	.	.	.	.	.	.	.	.	A	12.16	1.853814	0.32791	.	.	ENSG00000124574	ENST00000372530;ENST00000244533	D;D	0.89746	-2.56;-2.56	5.44	5.44	0.79542	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.424385	0.25869	N	0.027777	T	0.74283	0.3696	L	0.28694	0.88	0.27590	N	0.94931	B;B	0.30146	0.202;0.27	B;B	0.35550	0.205;0.192	T	0.66304	-0.5957	10	0.33141	T	0.24	-19.7313	11.1288	0.48334	0.7168:0.2832:0.0:0.0	.	272;315	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	G	315;272	ENSP00000361608:E315G;ENSP00000244533:E272G	ENSP00000244533:E272G	E	+	2	0	ABCC10	43508640	0.997000	0.39634	1.000000	0.80357	0.733000	0.41908	3.695000	0.54749	2.071000	0.62044	0.459000	0.35465	GAG		0.607	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450	
RIPPLY2	134701	hgsc.bcm.edu	37	6	84563147	84563147	+	Silent	SNP	G	G	A	rs9353143	byFrequency	TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr6:84563147G>A	ENST00000369689.1	+	1	163	c.12G>A	c.(10-12)gcG>gcA	p.A4A	RIPPLY2_ENST00000369687.1_5'Flank	NM_001009994.1	NP_001009994.1	Q5TAB7	RIPP2_HUMAN	ripply transcriptional repressor 2	4					bone morphogenesis (GO:0060349)|determination of left/right symmetry (GO:0007368)|Notch signaling pathway (GO:0007219)|ossification (GO:0001503)|post-anal tail morphogenesis (GO:0036342)|regulation of gene expression (GO:0010468)|somite rostral/caudal axis specification (GO:0032525)|somitogenesis (GO:0001756)	nucleus (GO:0005634)				large_intestine(2)|lung(4)|urinary_tract(1)	7						TGGAGAACGCGGGAGGCGCAG	0.697													A|||	1469	0.293331	0.6596	0.2752	5008	,	,		13517	0.2619		0.0825	False		,,,				2504	0.0603																0			6						A		1259,1859		244,771,544	3.0	4.0	4.0		12	-3.7	0.0	6	dbSNP_119	4	433,5751		28,377,2687	no	coding-synonymous	RIPPLY2	NM_001009994.1		272,1148,3231	AA,AG,GG		7.0019,40.3784,18.1896		4/129	84563147	1692,7610	1559	3092	4651	84619866	SO:0001819	synonymous_variant	134701			BC130460	CCDS34493.1	6q14.2	2013-07-23	2013-07-23	2008-05-07	ENSG00000203877	ENSG00000203877			21390	protein-coding gene	gene with protein product		609891	"""chromosome 6 open reading frame 159"", ""ripply2 homolog (zebrafish)"""	C6orf159			Standard	NM_001009994		Approved	dJ237I15.1	uc003pke.3	Q5TAB7	OTTHUMG00000015117	ENST00000369689.1:c.12G>A	6.37:g.84563147G>A			84619866	Q5TAB6	Silent	SNP	ENST00000369689.1	37	CCDS34493.1																																																																																				0.697	RIPPLY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041360.1	NM_001009994	
PTPRK	5796	hgsc.bcm.edu	37	6	128841478	128841478	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr6:128841478A>G	ENST00000368215.3	-	1	25	c.26T>C	c.(25-27)cTg>cCg	p.L9P	PTPRK_ENST00000368226.4_Missense_Mutation_p.L9P|PTPRK_ENST00000532331.1_Missense_Mutation_p.L9P|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368207.3_Missense_Mutation_p.L9P|PTPRK_ENST00000368210.3_Missense_Mutation_p.L9P|PTPRK_ENST00000525459.1_Missense_Mutation_p.L9P|PTPRK_ENST00000368227.3_Missense_Mutation_p.L9P|PTPRK_ENST00000368213.5_Missense_Mutation_p.L9P			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	9				L -> V (in Ref. 2; AAC37599). {ECO:0000305}.	cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		AAAAGCAGGCAGCGCCGCCGC	0.652																																																	0			6											24.0	31.0	28.0					6																	128841478		2189	4289	6478	128883171	SO:0001583	missense	5796			L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.26T>C	6.37:g.128841478A>G	ENSP00000357198:p.Leu9Pro		128883171	B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Missense_Mutation	SNP	ENST00000368215.3	37		.	.	.	.	.	.	.	.	.	.	A	11.29	1.596252	0.28445	.	.	ENSG00000152894	ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207;ENST00000525459	T;T;T;T;T;T;T;T	0.10960	3.07;3.08;3.08;3.07;3.08;3.07;3.08;2.82	4.56	3.4	0.38934	.	0.138146	0.28754	N	0.014246	T	0.06508	0.0167	N	0.14661	0.345	0.44061	D	0.996801	B;P;D;P;D	0.54397	0.0;0.943;0.966;0.943;0.966	B;P;P;P;P	0.61070	0.0;0.766;0.883;0.766;0.883	T	0.15292	-1.0442	10	0.72032	D	0.01	.	6.0271	0.19660	0.8842:0.0:0.1158:0.0	.	9;9;9;9;9	B4DHC3;B7ZMG0;Q15262-3;Q15262;Q15262-2	.;.;.;PTPRK_HUMAN;.	P	9	ENSP00000357209:L9P;ENSP00000357210:L9P;ENSP00000432973:L9P;ENSP00000357196:L9P;ENSP00000357193:L9P;ENSP00000357198:L9P;ENSP00000357190:L9P;ENSP00000434116:L9P	ENSP00000357190:L9P	L	-	2	0	PTPRK	128883171	1.000000	0.71417	0.995000	0.50966	0.836000	0.47400	1.952000	0.40343	1.675000	0.50919	0.459000	0.35465	CTG		0.652	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000042163.1		
SLC35D3	340146	hgsc.bcm.edu	37	6	137245447	137245447	+	Silent	SNP	G	G	T			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr6:137245447G>T	ENST00000331858.4	+	2	1029	c.864G>T	c.(862-864)gtG>gtT	p.V288V		NM_001008783.1	NP_001008783.1	Q5M8T2	S35D3_HUMAN	solute carrier family 35, member D3	288					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	13	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)		CCGGCGTGGTGGTGAACACCC	0.597																																																	0			6											74.0	68.0	70.0					6																	137245447		2203	4300	6503	137287140	SO:0001819	synonymous_variant	340146				CCDS34544.1	6q23.2	2013-05-22			ENSG00000182747	ENSG00000182747		"""Solute carriers"""	15621	protein-coding gene	gene with protein product		612519		FRCL1			Standard	NM_001008783		Approved		uc003qhe.3	Q5M8T2	OTTHUMG00000015651	ENST00000331858.4:c.864G>T	6.37:g.137245447G>T			137287140	B4DI58|Q5QNZ6|Q6NX71	Silent	SNP	ENST00000331858.4	37	CCDS34544.1																																																																																				0.597	SLC35D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042389.2	XM_294017	
UTRN	7402	hgsc.bcm.edu	37	6	144758846	144758846	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr6:144758846A>G	ENST00000367545.3	+	10	1205	c.1205A>G	c.(1204-1206)gAg>gGg	p.E402G		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	402	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GCTAGATGGGAGGCTCTTAGG	0.488																																																	0			6											116.0	101.0	106.0					6																	144758846		2203	4300	6503	144800539	SO:0001583	missense	7402			AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.1205A>G	6.37:g.144758846A>G	ENSP00000356515:p.Glu402Gly		144800539	Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	A	26.6	4.755333	0.89843	.	.	ENSG00000152818	ENST00000367529;ENST00000367545	T	0.55234	0.53	5.36	5.36	0.76844	.	0.000000	0.50627	D	0.000120	T	0.66973	0.2844	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71097	-0.4691	10	0.52906	T	0.07	.	15.3449	0.74327	1.0:0.0:0.0:0.0	.	402	P46939	UTRO_HUMAN	G	402	ENSP00000356515:E402G	ENSP00000356499:E402G	E	+	2	0	UTRN	144800539	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.339000	0.96797	2.034000	0.60081	0.533000	0.62120	GAG		0.488	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1		
MRPL18	29074	hgsc.bcm.edu	37	6	160211636	160211636	+	Missense_Mutation	SNP	G	G	A	rs1128670	byFrequency	TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr6:160211636G>A	ENST00000367034.4	+	1	139	c.17G>A	c.(16-18)cGg>cAg	p.R6Q	TCP1_ENST00000544255.1_5'Flank|MRPL18_ENST00000480842.1_3'UTR|TCP1_ENST00000392168.2_5'Flank|TCP1_ENST00000420894.2_5'Flank|TCP1_ENST00000321394.7_5'Flank|TCP1_ENST00000546023.1_5'Flank	NM_014161.3	NP_054880.2	Q9H0U6	RM18_HUMAN	mitochondrial ribosomal protein L18	6			R -> Q (in dbSNP:rs1128670). {ECO:0000269|PubMed:11042152}.		rRNA import into mitochondrion (GO:0035928)|translation (GO:0006412)	extracellular space (GO:0005615)|mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)	5S rRNA binding (GO:0008097)|structural constituent of ribosome (GO:0003735)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	11		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.79e-06)		CTTCGGTCGCGGTTTTGGGGG	0.567													G|||	3330	0.664936	0.4818	0.8285	5008	,	,		16901	0.5873		0.7575	False		,,,				2504	0.7812																0			6						G	GLN/ARG	2293,2113	598.3+/-389.1	603,1087,513	108.0	95.0	100.0		17	4.5	0.2	6	dbSNP_86	100	6421,2179	711.0+/-405.8	2432,1557,311	yes	missense	MRPL18	NM_014161.3	43	3035,2644,824	AA,AG,GG		25.3372,47.9573,33.0002	probably-damaging	6/181	160211636	8714,4292	2203	4300	6503	160131626	SO:0001583	missense	29074			AF161556	CCDS5270.1	6q25.3	2012-09-13			ENSG00000112110	ENSG00000112110		"""Mitochondrial ribosomal proteins / large subunits"""	14477	protein-coding gene	gene with protein product		611831				11042152, 11551941	Standard	NM_014161		Approved	HSPC071	uc003qsw.4	Q9H0U6	OTTHUMG00000015942	ENST00000367034.4:c.17G>A	6.37:g.160211636G>A	ENSP00000356001:p.Arg6Gln		160131626	Q5TAP9|Q9NZW8	Missense_Mutation	SNP	ENST00000367034.4	37	CCDS5270.1	1445	0.6616300366300366	246	0.5	295	0.8149171270718232	324	0.5664335664335665	580	0.7651715039577837	G	14.16	2.452584	0.43531	0.520427	0.746628	ENSG00000112110	ENST00000367034	T	0.48522	0.81	5.32	4.46	0.54185	.	0.336411	0.26769	N	0.022593	T	0.28267	0.0698	M	0.67953	2.075	0.80722	P	0.0	B	0.22851	0.076	B	0.10450	0.005	T	0.27806	-1.0063	9	0.54805	T	0.06	-12.246	9.8104	0.40820	0.0921:0.0:0.9079:0.0	rs1128670;rs2273821;rs3177363;rs61436974;rs2273821	6	Q9H0U6	RM18_HUMAN	Q	6	ENSP00000356001:R6Q	ENSP00000356001:R6Q	R	+	2	0	MRPL18	160131626	0.116000	0.22171	0.193000	0.23327	0.127000	0.20565	1.266000	0.33039	1.482000	0.48325	-0.140000	0.14226	CGG		0.567	MRPL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042925.1		
ZZEF1	23140	hgsc.bcm.edu	37	17	4020421	4020421	+	Missense_Mutation	SNP	T	T	C	rs371226804		TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr17:4020421T>C	ENST00000381638.2	-	3	663	c.539A>G	c.(538-540)gAt>gGt	p.D180G	ZZEF1_ENST00000574474.1_5'UTR|snoU13_ENST00000459263.1_RNA	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	180							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						CGAGTGAATATCAAGGCCCTC	0.498																																																	0			17						T	GLY/ASP	1,4405	2.1+/-5.4	0,1,2202	134.0	121.0	125.0		539	-6.3	0.0	17		125	0,8600		0,0,4300	no	missense	ZZEF1	NM_015113.3	94	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	benign	180/2962	4020421	1,13005	2203	4300	6503	3967170	SO:0001583	missense	23140			BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.539A>G	17.37:g.4020421T>C	ENSP00000371051:p.Asp180Gly		3967170	A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	T	0.017	-1.503123	0.00992	2.27E-4	0.0	ENSG00000074755	ENST00000381638	T	0.19105	2.17	5.76	-6.29	0.02013	.	0.413411	0.29106	N	0.013136	T	0.03651	0.0104	N	0.01048	-1.04	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.31641	-0.9936	10	0.02654	T	1	-0.0349	8.1445	0.31104	0.0:0.4059:0.1019:0.4922	.	180;180	O43149-3;O43149	.;ZZEF1_HUMAN	G	180	ENSP00000371051:D180G	ENSP00000371051:D180G	D	-	2	0	ZZEF1	3967170	0.136000	0.22515	0.002000	0.10522	0.022000	0.10575	1.150000	0.31639	-0.980000	0.03524	-0.285000	0.09966	GAT		0.498	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113	
TP53	7157	hgsc.bcm.edu	37	17	7577508	7577508	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr17:7577508T>C	ENST00000269305.4	-	7	962	c.773A>G	c.(772-774)gAa>gGa	p.E258G	TP53_ENST00000455263.2_Missense_Mutation_p.E258G|TP53_ENST00000413465.2_Missense_Mutation_p.E258G|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.E258G|TP53_ENST00000420246.2_Missense_Mutation_p.E258G|TP53_ENST00000445888.2_Missense_Mutation_p.E258G	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	258	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		E -> A (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1978757}.|E -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.E258G(8)|p.E258V(5)|p.E258A(5)|p.?(1)|p.E258fs*85(1)|p.E258>XX(1)|p.E258fs*71(1)|p.E258fs*2(1)|p.E258_S260delEDS(1)|p.E258del(1)|p.E258L(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CCTGGAGTCTTCCAGTGTGAT	0.582		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	34	Substitution - Missense(19)|Whole gene deletion(8)|Deletion - Frameshift(3)|Deletion - In frame(2)|Unknown(1)|Complex - insertion inframe(1)	large_intestine(5)|bone(4)|upper_aerodigestive_tract(3)|central_nervous_system(3)|liver(3)|lung(3)|haematopoietic_and_lymphoid_tissue(2)|oesophagus(2)|ovary(2)|stomach(1)|soft_tissue(1)|biliary_tract(1)|breast(1)|testis(1)|urinary_tract(1)|pancreas(1)	17											136.0	97.0	110.0					17																	7577508		2203	4300	6503	7518233	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.773A>G	17.37:g.7577508T>C	ENSP00000269305:p.Glu258Gly		7518233	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	18.72	3.684597	0.68157	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D;D	0.99859	-7.24;-7.24;-7.24;-7.24;-7.24;-7.24;-7.24	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99871	0.9939	M	0.92367	3.3	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.999;1.0;0.999;1.0	D	0.96472	0.9349	10	0.72032	D	0.01	-21.9865	12.3101	0.54924	0.0:0.0:0.0:1.0	.	258;258;258;258;258	P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;P53_HUMAN;.;.	G	258;258;258;258;258;258;247;126	ENSP00000410739:E258G;ENSP00000352610:E258G;ENSP00000269305:E258G;ENSP00000398846:E258G;ENSP00000391127:E258G;ENSP00000391478:E258G;ENSP00000425104:E126G	ENSP00000269305:E258G	E	-	2	0	TP53	7518233	1.000000	0.71417	1.000000	0.80357	0.394000	0.30568	6.025000	0.70864	2.074000	0.62210	0.379000	0.24179	GAA		0.582	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
CCT6B	10693	hgsc.bcm.edu	37	17	33288363	33288363	+	Missense_Mutation	SNP	C	C	T	rs9635769	byFrequency	TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr17:33288363C>T	ENST00000314144.5	-	1	165	c.50G>A	c.(49-51)cGg>cAg	p.R17Q	CCT6B_ENST00000421975.3_Missense_Mutation_p.R17Q|CCT6B_ENST00000436961.3_Missense_Mutation_p.R17Q|ZNF830_ENST00000361952.3_5'Flank	NM_006584.3	NP_006575.2	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B (zeta 2)	17			R -> Q (in dbSNP:rs9635769). {ECO:0000269|PubMed:15489334}.		chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)	chaperonin-containing T-complex (GO:0005832)	ATP binding (GO:0005524)|protein transporter activity (GO:0008565)|unfolded protein binding (GO:0051082)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20		Ovarian(249;0.17)				CAAAGCTGCCCGGGCCCGCGC	0.557													T|||	2748	0.548722	0.292	0.4813	5008	,	,		18148	0.8353		0.5696	False		,,,				2504	0.6268																0			17						T	GLN/ARG,GLN/ARG,GLN/ARG	1401,3005	653.7+/-399.6	225,951,1027	37.0	41.0	40.0		50,50,50	0.6	1.0	17	dbSNP_119	40	4973,3627	498.6+/-374.8	1434,2105,761	yes	missense,missense,missense	CCT6B	NM_001193529.1,NM_001193530.1,NM_006584.3	43,43,43	1659,3056,1788	TT,TC,CC		42.1744,31.7975,49.0082	benign,benign,benign	17/494,17/486,17/531	33288363	6374,6632	2203	4300	6503	30312476	SO:0001583	missense	10693			D78333	CCDS32617.1, CCDS54105.1, CCDS54106.1	17q	2011-09-02			ENSG00000132141	ENSG00000132141		"""Heat Shock Proteins / Chaperonins"""	1621	protein-coding gene	gene with protein product		610730				8812458, 9013858	Standard	NM_006584		Approved	Cctz2, TSA303	uc002hig.3	Q92526		ENST00000314144.5:c.50G>A	17.37:g.33288363C>T	ENSP00000327191:p.Arg17Gln		30312476	B4DX20|B4DYB0|Q8TC34	Missense_Mutation	SNP	ENST00000314144.5	37	CCDS32617.1	1234	0.565018315018315	155	0.3150406504065041	178	0.49171270718232046	467	0.8164335664335665	434	0.5725593667546174	T	3.321	-0.138708	0.06669	0.317975	0.578256	ENSG00000132141	ENST00000421975;ENST00000314144;ENST00000436961	T;T;T	0.11277	2.79;2.79;2.79	5.23	0.553	0.17235	.	0.173536	0.53938	N	0.000060	T	0.00012	0.0000	N	0.05383	-0.06	0.48975	P	2.6199999999998447E-4	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.07177	-1.0786	9	0.22706	T	0.39	0.002	9.5733	0.39442	0.0:0.3838:0.0:0.6162	rs9635769;rs11552271;rs17856746;rs17856769;rs60052983;rs9635769	17;17;17	B4DYB0;B4DX20;Q92526	.;.;TCPW_HUMAN	Q	17	ENSP00000398044:R17Q;ENSP00000327191:R17Q;ENSP00000400917:R17Q	ENSP00000327191:R17Q	R	-	2	0	CCT6B	30312476	1.000000	0.71417	0.994000	0.49952	0.350000	0.29205	1.629000	0.37071	-0.266000	0.09339	-0.254000	0.11334	CGG		0.557	CCT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448014.1	NM_006584	
SOCS7	30837	hgsc.bcm.edu	37	17	36508688	36508688	+	Silent	SNP	A	A	G			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr17:36508688A>G	ENST00000577233.1	+	1	561	c.561A>G	c.(559-561)caA>caG	p.Q187Q	SOCS7_ENST00000331159.5_Silent_p.Q187Q	NM_014598.2	NP_055413.1	O14512	SOCS7_HUMAN	suppressor of cytokine signaling 7	187	Mediates interaction with SORBS3.|Poly-Gln.				fat cell differentiation (GO:0045444)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|negative regulation of signal transduction (GO:0009968)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			central_nervous_system(1)|endometrium(1)|kidney(1)|prostate(1)|skin(5)	9	Breast(7;3.47e-17)					agcagcagcaACCTCCCCCGC	0.687																																																	0			17											2.0	3.0	3.0					17																	36508688		1799	3725	5524	33762214	SO:0001819	synonymous_variant	122809			AB005216	CCDS32637.1	17q12	2014-08-12			ENSG00000274211	ENSG00000274211		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	29846	protein-coding gene	gene with protein product	"""Nck, Ash and phospholipase C binding protein"", ""NCK-associated protein 4"""	608788				9344857, 12076535	Standard	XM_005257264		Approved	NAP4, NCKAP4	uc002hqa.3	O14512	OTTHUMG00000188546	ENST00000577233.1:c.561A>G	17.37:g.36508688A>G			33762214	A2VCU2|Q0IJ63	Silent	SNP	ENST00000577233.1	37	CCDS32637.1																																																																																				0.687	SOCS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440486.4	XM_371052	
FMNL1	752	hgsc.bcm.edu	37	17	43323932	43323932	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr17:43323932A>G	ENST00000331495.3	+	26	3608	c.3272A>G	c.(3271-3273)gAg>gGg	p.E1091G	FMNL1_ENST00000587489.1_Intron|MAP3K14-AS1_ENST00000588698.1_RNA|CTD-2020K17.4_ENST00000420431.2_RNA|MAP3K14-AS1_ENST00000585346.1_RNA|CTD-2020K17.4_ENST00000591361.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|FMNL1_ENST00000328118.3_Intron|MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000591263.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA|CTD-2020K17.4_ENST00000589518.1_RNA	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1	1091					actin filament severing (GO:0051014)|cortical actin cytoskeleton organization (GO:0030866)|regulation of cell shape (GO:0008360)|substrate-dependent cell migration (GO:0006929)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|GTPase activating protein binding (GO:0032794)|Rac GTPase binding (GO:0048365)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						CTCCTCTGTGAGGCCAGCCTG	0.647											OREG0024478	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(164;1247 1997 8702 11086 51972)												0			17											35.0	38.0	37.0					17																	43323932		2203	4298	6501	40679715	SO:0001583	missense	752			AJ008112	CCDS11497.1	17q21.31	2008-05-14	2003-12-02	2003-12-03		ENSG00000184922			1212	protein-coding gene	gene with protein product		604656	"""formin-like"""	C17orf1B, FMNL		9799091	Standard	NM_005892		Approved	C17orf1	uc002iin.3	O95466		ENST00000331495.3:c.3272A>G	17.37:g.43323932A>G	ENSP00000329219:p.Glu1091Gly	915	40679715	D2DGW2|Q6DKG5|Q6IBP3|Q86UH1|Q8N671|Q8TDH1|Q96H10	Missense_Mutation	SNP	ENST00000331495.3	37	CCDS11497.1	.	.	.	.	.	.	.	.	.	.	A	29.4	5.002344	0.93227	.	.	ENSG00000184922	ENST00000331495	T	0.80738	-1.41	4.59	4.59	0.56863	.	.	.	.	.	T	0.80292	0.4596	N	0.22421	0.69	0.80722	D	1	D	0.67145	0.996	P	0.61477	0.889	T	0.80930	-0.1162	9	0.44086	T	0.13	.	13.2195	0.59879	1.0:0.0:0.0:0.0	.	1091	O95466	FMNL_HUMAN	G	1091	ENSP00000329219:E1091G	ENSP00000329219:E1091G	E	+	2	0	FMNL1	40679715	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.714000	0.91412	2.043000	0.60533	0.459000	0.35465	GAG		0.647	FMNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450198.1	NM_005892	
TIAM1	7074	hgsc.bcm.edu	37	21	32639011	32639011	+	Missense_Mutation	SNP	C	C	T	rs371530269		TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr21:32639011C>T	ENST00000286827.3	-	5	749	c.278G>A	c.(277-279)cGa>cAa	p.R93Q	TIAM1_ENST00000469412.1_Intron|TIAM1_ENST00000541036.1_Missense_Mutation_p.R93Q	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	93					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CATGTCCACTCGGTCCACCCA	0.587																																																	0			21						C	GLN/ARG	1,4405		0,1,2202	75.0	72.0	73.0		278	4.8	1.0	21		73	0,8600		0,0,4300	no	missense	TIAM1	NM_003253.2	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	93/1592	32639011	1,13005	2203	4300	6503	31560882	SO:0001583	missense	7074				CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.278G>A	21.37:g.32639011C>T	ENSP00000286827:p.Arg93Gln		31560882	B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.475275	0.84640	2.27E-4	0.0	ENSG00000156299	ENST00000286827;ENST00000541036;ENST00000455508	T;T	0.61510	0.25;0.1	4.83	4.83	0.62350	.	0.073583	0.56097	D	0.000035	T	0.68192	0.2974	L	0.46157	1.445	0.46678	D	0.999159	D;D;D	0.76494	0.999;0.999;0.999	P;P;P	0.60345	0.873;0.75;0.75	T	0.71968	-0.4432	10	0.87932	D	0	.	18.1054	0.89518	0.0:1.0:0.0:0.0	.	93;93;93	F5GZ53;B7ZLR6;Q13009	.;.;TIAM1_HUMAN	Q	93	ENSP00000286827:R93Q;ENSP00000441570:R93Q	ENSP00000286827:R93Q	R	-	2	0	TIAM1	31560882	1.000000	0.71417	0.989000	0.46669	0.990000	0.78478	5.365000	0.66116	2.505000	0.84491	0.591000	0.81541	CGA		0.587	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253	
C21orf33	8209	hgsc.bcm.edu	37	21	45560194	45560194	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr21:45560194A>G	ENST00000291577.6	+	5	584	c.491A>G	c.(490-492)aAg>aGg	p.K164R	C21orf33_ENST00000427803.2_Missense_Mutation_p.K164R|C21orf33_ENST00000348499.5_Intron|C21orf33_ENST00000493883.1_3'UTR	NM_004649.6	NP_004640	P30042	ES1_HUMAN	chromosome 21 open reading frame 33	164						mitochondrion (GO:0005739)				NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8				STAD - Stomach adenocarcinoma(101;0.168)|Colorectal(79;0.191)		CGTGTCCTGAAGGAGTTCCAC	0.622																																																	0			21											106.0	102.0	103.0					21																	45560194		2203	4300	6503	44384622	SO:0001583	missense	8209			Y07572	CCDS33580.1, CCDS33581.1	21q22.3	2008-07-29			ENSG00000160221	ENSG00000160221			1273	protein-coding gene	gene with protein product		601659				9150728, 8975701	Standard	NM_004649		Approved	KNP-Ia, GT335, ES1, HES1, D21S2048E, KNPI, KNPH, KNP-I	uc002zec.4	P30042	OTTHUMG00000086916	ENST00000291577.6:c.491A>G	21.37:g.45560194A>G	ENSP00000291577:p.Lys164Arg		44384622	A6NFJ6|A6NJY7|O00650|O00660|O15011|O15012|P55346|P78474|Q92505|Q92507	Missense_Mutation	SNP	ENST00000291577.6	37	CCDS33580.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.78|12.78	2.041999|2.041999	0.35989|0.35989	.|.	.|.	ENSG00000248354;ENSG00000160221;ENSG00000160221;ENSG00000160221|ENSG00000160221	ENST00000433711;ENST00000291577;ENST00000427803;ENST00000389690|ENST00000419699	T;T;T|.	0.80123|.	-1.34;-1.34;-1.34|.	4.29|4.29	1.55|1.55	0.23275|0.23275	ThiJ/PfpI (1);|.	0.276507|.	0.39083|.	N|.	0.001477|.	T|T	0.43233|0.43233	0.1238|0.1238	L|L	0.33245|0.33245	0.995|0.995	0.80722|0.80722	D|D	1|1	B|.	0.17038|.	0.02|.	B|.	0.20577|.	0.03|.	T|T	0.14868|0.14868	-1.0457|-1.0457	10|5	0.16896|.	T|.	0.51|.	-17.8592|-17.8592	7.2255|7.2255	0.26012|0.26012	0.751:0.0:0.249:0.0|0.751:0.0:0.249:0.0	.|.	164|.	P30042|.	ES1_HUMAN|.	R|G	143;164;164;137|80	ENSP00000291577:K164R;ENSP00000396655:K164R;ENSP00000374340:K137R|.	ENSP00000415634:K143R|.	K|R	+|+	2|1	0|2	C21orf33;AP001055.7|C21orf33	44384622|44384622	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.788000|0.788000	0.44548|0.44548	2.087000|2.087000	0.41653|0.41653	0.623000|0.623000	0.30267|0.30267	-0.379000|-0.379000	0.06801|0.06801	AAG|AGG		0.622	C21orf33-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195824.1	NM_004649	
MSLNL	401827	hgsc.bcm.edu	37	16	820888	820888	+	Missense_Mutation	SNP	T	T	C	rs12599339	byFrequency	TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr16:820888T>C	ENST00000442466.1	-	12	1443	c.1444A>G	c.(1444-1446)Acc>Gcc	p.T482A	MSLNL_ENST00000293892.3_Missense_Mutation_p.T833A|MIR662_ENST00000384847.1_RNA			Q96KJ4	MSLNL_HUMAN	mesothelin-like	482					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.T833A(1)		breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						CTGCCGAAGGTCTCATGGGCC	0.692													.|||	1855	0.370407	0.5802	0.3055	5008	,	,		10426	0.3284		0.2028	False		,,,				2504	0.3487																1	Substitution - Missense(1)	prostate(1)	16						C	ALA/THR	1768,2122		439,890,616	13.0	20.0	18.0		2497	4.8	1.0	16	dbSNP_120	18	1782,6484		216,1350,2567	yes	missense	MSLNL	NM_001025190.1	58	655,2240,3183	CC,CT,TT		21.5582,45.4499,29.2037	benign	833/1054	820888	3550,8606	1945	4133	6078	760889	SO:0001583	missense	401827					16p13.3	2008-08-06	2008-07-04	2008-07-04	ENSG00000162006	ENSG00000162006			14170	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 37"""	C16orf37			Standard	NG_032123		Approved	MPFL		Q96KJ4		ENST00000442466.1:c.1444A>G	16.37:g.820888T>C	ENSP00000415767:p.Thr482Ala		760889		Missense_Mutation	SNP	ENST00000442466.1	37		719	0.3292124542124542	282	0.573170731707317	96	0.26519337016574585	188	0.32867132867132864	153	0.20184696569920843	C	0.767	-0.767001	0.02974	0.454499	0.215582	ENSG00000162006	ENST00000543963;ENST00000442466;ENST00000293892	T;T;T	0.05996	3.36;3.36;3.36	4.84	4.84	0.62591	.	0.141777	0.46145	N	0.000319	T	0.00012	0.0000	.	.	.	0.58432	P	5.999999999950489E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.35351	-0.9792	8	0.02654	T	1	-20.6114	10.7083	0.45969	0.0:0.9089:0.0:0.0911	rs12599339	482	Q96KJ4	MSLNL_HUMAN	A	532;482;833	ENSP00000441381:T532A;ENSP00000415767:T482A;ENSP00000293892:T833A	ENSP00000293892:T833A	T	-	1	0	MSLNL	760889	0.999000	0.42202	0.982000	0.44146	0.011000	0.07611	3.393000	0.52544	1.170000	0.42753	-0.215000	0.12644	ACC		0.692	MSLNL-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001025190	
PRR25	388199	hgsc.bcm.edu	37	16	855717	855717	+	Missense_Mutation	SNP	C	C	G	rs1005190	byFrequency	TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr16:855717C>G	ENST00000301698.1	+	1	275	c.275C>G	c.(274-276)aCc>aGc	p.T92S		NM_001013638.1	NP_001013660.1	Q96S07	PRR25_HUMAN	proline rich 25	92			T -> S (in dbSNP:rs1005190).							large_intestine(1)|lung(1)|skin(1)	3						GAGCTCCCAACCAGCTCAGGA	0.647													A|||	2821	0.563299	0.8525	0.4726	5008	,	,		17560	0.4494		0.2833	False		,,,				2504	0.6421																0			16						A	SER/THR	2833,1047		1053,727,160	21.0	29.0	27.0		275	0.4	0.0	16	dbSNP_86	27	2410,5858		335,1740,2059	yes	missense	PRR25	NM_001013638.1	58	1388,2467,2219	GG,GC,CC		29.1485,26.9845,43.1594	benign	92/403	855717	5243,6905	1940	4134	6074	795718	SO:0001583	missense	0			BC156145	CCDS45372.1	16p13.3	2009-09-11			ENSG00000167945	ENSG00000167945			37230	protein-coding gene	gene with protein product						11157797	Standard	NM_001013638		Approved	gs64	uc010uut.2	Q96S07		ENST00000301698.1:c.275C>G	16.37:g.855717C>G	ENSP00000301698:p.Thr92Ser		795718		Missense_Mutation	SNP	ENST00000301698.1	37	CCDS45372.1	1043	0.4775641025641026	417	0.8475609756097561	159	0.43922651933701656	268	0.46853146853146854	199	0.262532981530343	A	0	-2.773183	0.00081	0.730155	0.291485	ENSG00000167945	ENST00000301698	T	0.36157	1.27	0.364	0.364	0.16124	.	.	.	.	.	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	0.14309	-1.0477	8	0.87932	D	0	.	5.1656	0.15084	0.3575:0.6424:0.0:0.0	rs1005190;rs59369772;rs1005190	92	Q96S07	PRR25_HUMAN	S	92	ENSP00000301698:T92S	ENSP00000301698:T92S	T	+	2	0	PRR25	795718	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-1.151000	0.03175	-0.656000	0.05380	-0.694000	0.03704	ACC		0.647	PRR25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440563.1	NM_001013638	
TPSAB1	7177	hgsc.bcm.edu	37	16	1291178	1291178	+	Missense_Mutation	SNP	T	T	C	rs112944038		TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr16:1291178T>C	ENST00000338844.3	+	3	119	c.86T>C	c.(85-87)gTg>gCg	p.V29A	TPSAB1_ENST00000461509.2_Missense_Mutation_p.V36A	NM_003294.3	NP_003285.2	Q15661	TRYB1_HUMAN	tryptase alpha/beta 1	29			V -> A (in allele alpha; dbSNP:rs1064771).		defense response (GO:0006952)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1)	10		Hepatocellular(780;0.00369)				CTGCAGCGAGTGGGCATCGTC	0.716																																																	0			16											32.0	32.0	32.0					16																	1291178		2196	4296	6492	1231179	SO:0001583	missense	7177			M33494	CCDS10431.1	16p13.3	2009-11-13	2004-10-14	2004-10-15	ENSG00000172236	ENSG00000172236			12019	protein-coding gene	gene with protein product	"""tryptase alpha II"", ""tryptase beta I"", ""tryptase-I"", ""tryptase-II"", ""tryptase-III"""	191080	"""tryptase beta 1"""	TPSB1, TPS1, TPS2		2203827, 9920877	Standard	NM_003294		Approved		uc002ckz.3	Q15661	OTTHUMG00000090467	ENST00000338844.3:c.86T>C	16.37:g.1291178T>C	ENSP00000343577:p.Val29Ala		1231179	D2E6R9|D2E6S1|P15157|Q15663|Q6B052|Q9H2Y4|Q9H2Y5|Q9UQI1	Missense_Mutation	SNP	ENST00000338844.3	37	CCDS10431.1	734	0.3360805860805861	109	0.22154471544715448	102	0.281767955801105	276	0.4825174825174825	247	0.3258575197889182	C	3.007	-0.204833	0.06180	.	.	ENSG00000172236	ENST00000338844;ENST00000461509	T;T	0.81078	-1.45;-1.45	3.38	-6.75	0.01738	.	1.382050	0.04868	N	0.445430	T	0.00012	0.0000	N	0.24115	0.695	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.07849	-1.0751	9	0.07325	T	0.83	.	7.137	0.25533	0.1118:0.6191:0.113:0.156	.	29	Q15661	TRYB1_HUMAN	A	29;36	ENSP00000343577:V29A;ENSP00000418247:V36A	ENSP00000343577:V29A	V	+	2	0	TPSAB1	1231179	0.934000	0.31675	0.000000	0.03702	0.001000	0.01503	-0.611000	0.05622	-3.400000	0.00171	-1.842000	0.00583	GTG		0.716	TPSAB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000206914.1	NM_003294	
PKD1L2	114780	hgsc.bcm.edu	37	16	81248745	81248745	+	RNA	SNP	A	A	G	rs8060294	byFrequency	TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr16:81248745A>G	ENST00000525539.1	-	0	517				PKD1L2_ENST00000337114.4_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GACCTGCCCCAAGCCACAGTG	0.627											OREG0023964	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1954	0.390176	0.5454	0.3473	5008	,	,		17841	0.4345		0.2962	False		,,,				2504	0.2618																0			16						G	SER/LEU,SER/LEU	1980,1928		535,910,509	17.0	22.0	20.0		518,518	3.8	0.5	16	dbSNP_116	20	2300,5980		328,1644,2168	yes	missense,missense	PKD1L2	NM_001076780.1,NM_052892.3	145,145	863,2554,2677	GG,GA,AA		27.7778,49.3347,35.1165	benign,benign	173/992,173/2460	81248745	4280,7908	1954	4140	6094	79806246			114780			AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81248745A>G		1204	79806246	Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	ENST00000525539.1	37		863	0.39514652014652013	269	0.5467479674796748	124	0.3425414364640884	233	0.40734265734265734	237	0.31266490765171506	G	11.07	1.529240	0.27387	0.506653	0.277778	ENSG00000166473	ENST00000337114	T	0.15487	2.42	4.76	3.79	0.43588	D-galactoside/L-rhamnose binding SUEL lectin domain (2);	0.357637	0.26183	N	0.025853	T	0.00012	0.0000	.	.	.	0.39104	P	0.038654999999999995	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.45220	-0.9276	8	0.02654	T	1	-0.5244	10.2659	0.43455	0.0742:0.1356:0.7902:0.0	rs8060294;rs52836656;rs8060294	173;173	Q7Z442-3;Q7Z442	.;PK1L2_HUMAN	S	173	ENSP00000337397:L173S	ENSP00000337397:L173S	L	-	2	0	PKD1L2	79806246	1.000000	0.71417	0.457000	0.27056	0.360000	0.29518	5.197000	0.65141	0.438000	0.26450	-0.134000	0.14843	TTG		0.627	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2		
DNAAF1	123872	hgsc.bcm.edu	37	16	84209864	84209864	+	Missense_Mutation	SNP	G	G	C	rs2288023	byFrequency	TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr16:84209864G>C	ENST00000378553.5	+	11	2148	c.2024G>C	c.(2023-2025)aGt>aCt	p.S675T	DNAAF1_ENST00000563818.1_3'UTR	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	675			S -> T (in dbSNP:rs2288023). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		axonemal dynein complex assembly (GO:0070286)|cilium morphogenesis (GO:0060271)|cilium movement (GO:0003341)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|inner dynein arm assembly (GO:0036159)|left/right pattern formation (GO:0060972)|lung development (GO:0030324)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|regulation of cilium beat frequency (GO:0003356)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dynein binding (GO:0045502)			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						CTCACTTCCAGTGGAGACAGG	0.627													G|||	1340	0.267572	0.0613	0.4063	5008	,	,		17997	0.376		0.3439	False		,,,				2504	0.2577																0			16						G	THR/SER	491,3909	225.2+/-241.2	32,427,1741	46.0	42.0	43.0		2024	-1.7	0.0	16	dbSNP_100	43	3062,5538	457.8+/-364.4	561,1940,1799	yes	missense	DNAAF1	NM_178452.4	58	593,2367,3540	CC,CG,GG		35.6047,11.1591,27.3308	benign	675/726	84209864	3553,9447	2200	4300	6500	82767365	SO:0001583	missense	123872			BC024009	CCDS10943.2	16q24.1	2012-05-03	2011-06-09	2011-06-09	ENSG00000154099	ENSG00000154099			30539	protein-coding gene	gene with protein product	"""outer row dynein assembly 7 homolog (Chlamydomonas)"""	613190	"""leucine rich repeat containing 50"""	LRRC50		19944405	Standard	NM_178452		Approved	FLJ25330, ODA7, CILD13	uc002fhl.4	Q8NEP3	OTTHUMG00000128517	ENST00000378553.5:c.2024G>C	16.37:g.84209864G>C	ENSP00000367815:p.Ser675Thr		82767365	B4DJA3|Q69YI8|Q69YJ0|Q69YW5|Q96LP3|Q96MB6	Missense_Mutation	SNP	ENST00000378553.5	37	CCDS10943.2	659	0.3017399267399267	36	0.07317073170731707	125	0.3453038674033149	237	0.4143356643356643	261	0.34432717678100266	G	9.612	1.131548	0.21041	0.111591	0.356047	ENSG00000154099	ENST00000378553	T	0.32023	1.47	4.34	-1.74	0.08056	.	1.806150	0.03273	N	0.185064	T	0.00012	0.0000	L	0.40543	1.245	0.58432	P	2.9999999999752447E-6	B;B	0.20988	0.05;0.021	B;B	0.20184	0.028;0.008	T	0.42666	-0.9438	9	0.15066	T	0.55	0.1543	5.967	0.19330	0.2144:0.5194:0.2662:0.0	rs2288023;rs17845738;rs17858688;rs2288023	439;675	Q8NEP3-2;Q8NEP3	.;DAAF1_HUMAN	T	675	ENSP00000367815:S675T	ENSP00000367815:S675T	S	+	2	0	DNAAF1	82767365	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.037000	0.12164	-0.128000	0.11641	0.563000	0.77884	AGT		0.627	DNAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250328.3	NM_178452	
ATP2C2	9914	hgsc.bcm.edu	37	16	84402275	84402275	+	Silent	SNP	G	G	C	rs62048787	byFrequency	TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr16:84402275G>C	ENST00000262429.4	+	1	143	c.54G>C	c.(52-54)ggG>ggC	p.G18G	ATP2C2_ENST00000416219.2_Silent_p.G18G	NM_014861.2	NP_055676.2	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	18					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)	p.G18G(2)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						TCTCGGGCGGGGGCCGCCAGT	0.706													G|||	2092	0.417732	0.5499	0.4856	5008	,	,		12564	0.4841		0.2714	False		,,,				2504	0.273																2	Substitution - coding silent(2)	prostate(2)	16						G		1340,2286		254,832,727	7.0	12.0	11.0		54	-6.1	0.0	16	dbSNP_129	11	1685,6367		219,1247,2560	no	coding-synonymous	ATP2C2	NM_014861.2		473,2079,3287	CC,CG,GG		20.9265,36.9553,25.9034		18/947	84402275	3025,8653	1813	4026	5839	82959776	SO:0001819	synonymous_variant	9914			AK091051	CCDS42207.1, CCDS67088.1	16q24.1	2010-04-20			ENSG00000064270	ENSG00000064270	3.6.3.8	"""ATPases / P-type"""	29103	protein-coding gene	gene with protein product	"""secretory pathway calcium ATPase 2"""	613082				9734811	Standard	XM_006721355		Approved	KIAA0703, SPCA2	uc002fhx.3	O75185		ENST00000262429.4:c.54G>C	16.37:g.84402275G>C			82959776	B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2	Silent	SNP	ENST00000262429.4	37	CCDS42207.1																																																																																				0.706	ATP2C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433404.1	NM_014861	
ZNF469	84627	hgsc.bcm.edu	37	16	88498493	88498493	+	Missense_Mutation	SNP	G	G	A	rs559565235		TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr16:88498493G>A	ENST00000437464.1	+	2	4531	c.4531G>A	c.(4531-4533)Gcc>Acc	p.A1511T	ZNF469_ENST00000565624.1_Missense_Mutation_p.A1539T	NM_001127464.1	NP_001120936.1	Q96JG9	ZN469_HUMAN	zinc finger protein 469	1511	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(6)|kidney(3)|large_intestine(1)|skin(6)	20						TCCCGGCGCCGCCCCATCTTT	0.557													G|||	1	0.000199681	0.0	0.0	5008	,	,		18507	0.001		0.0	False		,,,				2504	0.0																0			16											51.0	42.0	44.0					16																	88498493		692	1591	2283	87025994	SO:0001583	missense	84627			AB058761	CCDS45544.1	16q24	2010-08-04				ENSG00000225614		"""Zinc fingers, C2H2-type"""	23216	protein-coding gene	gene with protein product		612078				11347906	Standard	NM_001127464		Approved	KIAA1858	uc002fku.2	Q96JG9		ENST00000437464.1:c.4531G>A	16.37:g.88498493G>A	ENSP00000402343:p.Ala1511Thr		87025994		Missense_Mutation	SNP	ENST00000437464.1	37	CCDS45544.1	.	.	.	.	.	.	.	.	.	.	G	8.166	0.790564	0.16258	.	.	ENSG00000225614	ENST00000437464	T	0.05996	3.36	4.69	1.64	0.23874	.	.	.	.	.	T	0.02970	0.0088	N	0.08118	0	0.09310	N	1	B	0.12630	0.006	B	0.04013	0.001	T	0.44097	-0.9350	9	0.48119	T	0.1	.	1.8831	0.03232	0.1613:0.4928:0.1629:0.183	.	1511	Q96JG9	ZN469_HUMAN	T	1511	ENSP00000402343:A1511T	ENSP00000402343:A1511T	A	+	1	0	ZNF469	87025994	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-0.237000	0.08990	0.089000	0.17243	-2.070000	0.00385	GCC		0.557	ZNF469-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NG_012236	
GAS8	2622	hgsc.bcm.edu	37	16	90095582	90095582	+	Intron	SNP	T	T	C	rs62640380	byFrequency	TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr16:90095582T>C	ENST00000268699.4	+	2	212				GAS8_ENST00000540721.1_Intron|GAS8_ENST00000536122.1_Intron|C16orf3_ENST00000408886.2_Missense_Mutation_p.S57G	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)		acggggcagcttacggggcag	0.662																																																	0			16											20.0	20.0	20.0					16																	90095582		2195	4300	6495	88623083	SO:0001627	intron_variant	750			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+1452T>C	16.37:g.90095582T>C			88623083	B2RCT1|B7Z4U1|G3V1L5|Q2M234	Missense_Mutation	SNP	ENST00000268699.4	37	CCDS10992.1	.	.	.	.	.	.	.	.	.	.	t	1.231	-0.623993	0.03636	.	.	ENSG00000221819	ENST00000408886	T	0.48836	0.8	.	.	.	.	.	.	.	.	T	0.23330	0.0564	N	0.08118	0	0.80722	P	0.0	.	.	.	.	.	.	T	0.33266	-0.9875	3	.	.	.	.	.	.	.	.	65	O95177	CP003_HUMAN	G	57	ENSP00000386218:S57G	.	S	-	1	0	C16orf3	88623083	0.042000	0.20092	0.034000	0.17996	0.035000	0.12851	0.000000	0.12993	0.000000	0.14550	0.000000	0.15137	AGC		0.662	GAS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272877.2		
LRRN1	57633	hgsc.bcm.edu	37	3	3887423	3887423	+	Silent	SNP	C	C	A			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr3:3887423C>A	ENST00000319331.3	+	2	1859	c.1098C>A	c.(1096-1098)atC>atA	p.I366I	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	366						integral component of membrane (GO:0016021)				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		TGCGTGAGATCAGTATCCATA	0.488																																																	0			3											96.0	89.0	92.0					3																	3887423		2203	4300	6503	3862423	SO:0001819	synonymous_variant	57633			AB040930	CCDS33685.1	3p26.2	2013-01-11			ENSG00000175928	ENSG00000175928		"""Immunoglobulin superfamily / I-set domain containing"""	20980	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 3"""					10819331	Standard	NM_020873		Approved	FIGLER3	uc003bpt.4	Q6UXK5	OTTHUMG00000154934	ENST00000319331.3:c.1098C>A	3.37:g.3887423C>A			3862423	Q3LID5|Q8IYV5|Q9H8V1|Q9P231	Silent	SNP	ENST00000319331.3	37	CCDS33685.1																																																																																				0.488	LRRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337704.2	NM_020873	
PTPN23	25930	hgsc.bcm.edu	37	3	47454350	47454350	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr3:47454350T>C	ENST00000265562.4	+	25	4663	c.4586T>C	c.(4585-4587)cTc>cCc	p.L1529P	PTPN23_ENST00000431726.1_Missense_Mutation_p.L1403P	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	1529	Pro-rich.				cilium morphogenesis (GO:0060271)|negative regulation of epithelial cell migration (GO:0010633)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of adherens junction organization (GO:1903393)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of homophilic cell adhesion (GO:1903387)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCCCCAGGCCTCCCGCCAGCC	0.677																																																	0			3											29.0	35.0	33.0					3																	47454350		2203	4299	6502	47429354	SO:0001583	missense	25930			AB025194	CCDS2754.1	3p21.3	2011-06-09			ENSG00000076201	ENSG00000076201		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	14406	protein-coding gene	gene with protein product		606584				11095967	Standard	NM_015466		Approved	DKFZP564F0923, KIAA1471, HD-PTP	uc003crf.1	Q9H3S7	OTTHUMG00000133520	ENST00000265562.4:c.4586T>C	3.37:g.47454350T>C	ENSP00000265562:p.Leu1529Pro		47429354	A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	Missense_Mutation	SNP	ENST00000265562.4	37	CCDS2754.1	.	.	.	.	.	.	.	.	.	.	T	1.294	-0.606896	0.03717	.	.	ENSG00000076201	ENST00000265562	T	0.02763	4.17	4.35	-1.1	0.09872	.	0.493490	0.17116	N	0.186425	T	0.01454	0.0047	N	0.12182	0.205	0.20703	N	0.999868	B	0.02656	0.0	B	0.01281	0.0	T	0.44772	-0.9306	10	0.33141	T	0.24	-5.0099	2.8191	0.05467	0.3201:0.2437:0.0:0.4362	.	1529	Q9H3S7	PTN23_HUMAN	P	1529	ENSP00000265562:L1529P	ENSP00000265562:L1529P	L	+	2	0	PTPN23	47429354	0.000000	0.05858	0.002000	0.10522	0.092000	0.18411	-0.738000	0.04871	-0.086000	0.12550	-0.490000	0.04691	CTC		0.677	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257492.2	NM_015466	
DNAH1	25981	hgsc.bcm.edu	37	3	52420860	52420860	+	Silent	SNP	G	G	A			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr3:52420860G>A	ENST00000420323.2	+	56	9255	c.8994G>A	c.(8992-8994)aaG>aaA	p.K2998K		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2998	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GCCTCTTCAAGTTTGACAAGG	0.627																																																	0			3											10.0	12.0	11.0					3																	52420860		2030	4173	6203	52395900	SO:0001819	synonymous_variant	25981			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.8994G>A	3.37:g.52420860G>A			52395900	B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Silent	SNP	ENST00000420323.2	37	CCDS46842.1																																																																																				0.627	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512	
STAB1	23166	hgsc.bcm.edu	37	3	52541958	52541958	+	Silent	SNP	C	C	T			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr3:52541958C>T	ENST00000321725.6	+	20	2140	c.2064C>T	c.(2062-2064)ccC>ccT	p.P688P		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	688					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		ACATCTTCCCCAAGGAGTGTG	0.582																																																	0			3											134.0	119.0	124.0					3																	52541958		2203	4300	6503	52516998	SO:0001819	synonymous_variant	23166			AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.2064C>T	3.37:g.52541958C>T			52516998	A7E297|Q8IUH0|Q8IUH1|Q93072	Silent	SNP	ENST00000321725.6	37	CCDS33768.1																																																																																				0.582	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136	
ROBO1	6091	hgsc.bcm.edu	37	3	78663931	78663931	+	Silent	SNP	C	C	T	rs558087386		TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr3:78663931C>T	ENST00000464233.1	-	28	4415	c.4302G>A	c.(4300-4302)gcG>gcA	p.A1434A	ROBO1_ENST00000436010.2_Silent_p.A1395A|ROBO1_ENST00000495273.1_Silent_p.A1389A|ROBO1_ENST00000467549.1_Silent_p.A1334A	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1434					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		GGCACTGAGACGCATGAAAAT	0.433													C|||	1	0.000199681	0.0008	0.0	5008	,	,		12693	0.0		0.0	False		,,,				2504	0.0																0			3											75.0	71.0	72.0					3																	78663931		1895	4108	6003	78746621	SO:0001819	synonymous_variant	6091			AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.4302G>A	3.37:g.78663931C>T			78746621	B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Silent	SNP	ENST00000464233.1	37	CCDS54611.1																																																																																				0.433	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941	
MORC1	27136	hgsc.bcm.edu	37	3	108836866	108836866	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr3:108836866C>T	ENST00000483760.1	-	1	84	c.41G>A	c.(40-42)cGt>cAt	p.R14H	MORC1_ENST00000232603.5_Missense_Mutation_p.R14H					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						GAAATCCAGACGCAGCTGGGC	0.652																																																	0			3											31.0	25.0	27.0					3																	108836866		2203	4300	6503	110319556	SO:0001583	missense	27136			AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.41G>A	3.37:g.108836866C>T	ENSP00000417282:p.Arg14His		110319556		Missense_Mutation	SNP	ENST00000483760.1	37		.	.	.	.	.	.	.	.	.	.	C	8.281	0.815520	0.16607	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	T;T	0.04502	3.61;3.62	4.86	0.976	0.19727	.	0.563324	0.16155	N	0.227065	T	0.00815	0.0027	N	0.00045	-2.445	0.21290	N	0.999739	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.46816	-0.9164	10	0.23302	T	0.38	-2.338	3.4087	0.07351	0.1666:0.187:0.0:0.6464	.	14;14	E7ERX1;Q86VD1	.;MORC1_HUMAN	H	14	ENSP00000232603:R14H;ENSP00000417282:R14H	ENSP00000232603:R14H	R	-	2	0	MORC1	110319556	0.893000	0.30496	0.849000	0.33467	0.280000	0.26924	0.690000	0.25451	0.073000	0.16731	-0.415000	0.06103	CGT		0.652	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1		
HCLS1	3059	hgsc.bcm.edu	37	3	121351333	121351333	+	Silent	SNP	T	T	A	rs34277781		TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr3:121351333T>A	ENST00000314583.3	-	12	1177	c.1086A>T	c.(1084-1086)gcA>gcT	p.A362A	HCLS1_ENST00000428394.2_Silent_p.A325A|HCLS1_ENST00000473883.1_5'UTR	NM_005335.4	NP_005326	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	362					actin filament polymerization (GO:0030041)|cellular response to cytokine stimulus (GO:0071345)|erythrocyte differentiation (GO:0030218)|intracellular signal transduction (GO:0035556)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell proliferation (GO:0008284)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|regulation of actin filament polymerization (GO:0030833)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	protein kinase binding (GO:0019901)|RNA polymerase II transcription factor binding (GO:0001085)	p.E363fs*1(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		gctcaggctcTGCTTCGTACA	0.602																																																	1	Insertion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(1)	3											120.0	114.0	116.0					3																	121351333		2203	4300	6503	122834023	SO:0001819	synonymous_variant	3059				CCDS3003.1	3q13	2007-08-03			ENSG00000180353	ENSG00000180353			4844	protein-coding gene	gene with protein product	"""cortactin-like"""	601306				8978766, 15710041	Standard	NM_001292041		Approved	HS1, CTTNL	uc003eeh.4	P14317	OTTHUMG00000159409	ENST00000314583.3:c.1086A>T	3.37:g.121351333T>A			122834023	B4DQ69|Q53Y93|Q6IBK9|Q9UDK0	Silent	SNP	ENST00000314583.3	37	CCDS3003.1																																																																																				0.602	HCLS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355144.1	NM_005335	
PLCH1	23007	hgsc.bcm.edu	37	3	155303880	155303880	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr3:155303880G>A	ENST00000340059.7	-	4	537	c.538C>T	c.(538-540)Cga>Tga	p.R180*	PLCH1_ENST00000447496.2_Nonsense_Mutation_p.R180*|PLCH1_ENST00000414191.1_Nonsense_Mutation_p.R162*|PLCH1_ENST00000334686.6_Nonsense_Mutation_p.R162*|PLCH1_ENST00000460012.1_Nonsense_Mutation_p.R162*|PLCH1_ENST00000494598.1_Nonsense_Mutation_p.R180*	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	180	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			ACTTTTCTTCGGGGCAGATTA	0.363																																																	0			3											127.0	124.0	125.0					3																	155303880		2203	4300	6503	156786574	SO:0001587	stop_gained	23007			AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.538C>T	3.37:g.155303880G>A	ENSP00000345988:p.Arg180*		156786574	Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Nonsense_Mutation	SNP	ENST00000340059.7	37	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	G	37	6.516100	0.97629	.	.	ENSG00000114805	ENST00000494598;ENST00000460012;ENST00000447496;ENST00000340059;ENST00000334686;ENST00000414191	.	.	.	5.51	3.69	0.42338	.	0.080716	0.49305	D	0.000154	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.8514	0.70300	0.0:0.0:0.7385:0.2615	.	.	.	.	X	180;162;180;180;162;162	.	ENSP00000335469:R162X	R	-	1	2	PLCH1	156786574	1.000000	0.71417	0.982000	0.44146	0.994000	0.84299	4.657000	0.61490	0.652000	0.30806	0.655000	0.94253	CGA		0.363	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996	
PIK3CA	5290	hgsc.bcm.edu	37	3	178936047	178936047	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr3:178936047A>G	ENST00000263967.3	+	10	1746	c.1589A>G	c.(1588-1590)cAg>cGg	p.Q530R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	530	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.Q530R(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	GACAAAGAACAGCTCAAAGCA	0.348		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	1	Substitution - Missense(1)	ovary(1)	3											42.0	42.0	42.0					3																	178936047		1798	4059	5857	180418741	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1589A>G	3.37:g.178936047A>G	ENSP00000263967:p.Gln530Arg		180418741	Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	13.04	2.116959	0.37339	.	.	ENSG00000121879	ENST00000263967	T	0.63580	-0.05	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.127006	0.53938	D	0.000047	T	0.50086	0.1595	L	0.28192	0.835	0.80722	D	1	B	0.09022	0.002	B	0.10450	0.005	T	0.42599	-0.9442	10	0.21014	T	0.42	-0.5103	16.1026	0.81194	1.0:0.0:0.0:0.0	.	530	P42336	PK3CA_HUMAN	R	530	ENSP00000263967:Q530R	ENSP00000263967:Q530R	Q	+	2	0	PIK3CA	180418741	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.962000	0.93254	2.198000	0.70561	0.383000	0.25322	CAG		0.348	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		
PIK3CA	5290	hgsc.bcm.edu	37	3	178936093	178936093	+	Missense_Mutation	SNP	G	G	T	rs121913275		TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr3:178936093G>T	ENST00000263967.3	+	10	1792	c.1635G>T	c.(1633-1635)gaG>gaT	p.E545D		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545D(25)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AAATCACTGAGCAGGAGAAAG	0.358		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	25	Substitution - Missense(25)	endometrium(9)|large_intestine(7)|breast(4)|haematopoietic_and_lymphoid_tissue(3)|stomach(1)|oesophagus(1)	3											61.0	61.0	61.0					3																	178936093		1813	4072	5885	180418787	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1635G>T	3.37:g.178936093G>T	ENSP00000263967:p.Glu545Asp		180418787	Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	18.88	3.718256	0.68844	.	.	ENSG00000121879	ENST00000263967	T	0.64438	-0.1	5.78	2.7	0.31948	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.65626	0.2709	L	0.41027	1.25	0.80722	D	1	D	0.67145	0.996	D	0.69479	0.964	T	0.58696	-0.7591	10	0.29301	T	0.29	-25.7963	8.8586	0.35242	0.374:0.0:0.626:0.0	.	545	P42336	PK3CA_HUMAN	D	545	ENSP00000263967:E545D	ENSP00000263967:E545D	E	+	3	2	PIK3CA	180418787	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	3.952000	0.56691	0.236000	0.21180	0.467000	0.42956	GAG		0.358	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		
PIK3CA	5290	hgsc.bcm.edu	37	3	178951991	178951991	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr3:178951991T>C	ENST00000263967.3	+	21	3203	c.3046T>C	c.(3046-3048)Ttt>Ctt	p.F1016L	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1016	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.F1016L(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	ACTACAATCTTTTGATGACAT	0.388		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	1	Substitution - Missense(1)	thyroid(1)	3											107.0	95.0	99.0					3																	178951991		1877	4115	5992	180434685	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3046T>C	3.37:g.178951991T>C	ENSP00000263967:p.Phe1016Leu		180434685	Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	T	7.994	0.753863	0.15778	.	.	ENSG00000121879	ENST00000263967	T	0.80566	-1.39	6.07	6.07	0.98685	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.69548	0.3123	N	0.17631	0.505	0.80722	D	1	P	0.36577	0.558	B	0.35931	0.214	T	0.68372	-0.5426	10	0.23302	T	0.38	-21.1775	16.635	0.85050	0.0:0.0:0.0:1.0	.	1016	P42336	PK3CA_HUMAN	L	1016	ENSP00000263967:F1016L	ENSP00000263967:F1016L	F	+	1	0	PIK3CA	180434685	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.560000	0.82277	2.330000	0.79161	0.477000	0.44152	TTT		0.388	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		
MUC4	4585	hgsc.bcm.edu	37	3	195513425	195513425	+	Missense_Mutation	SNP	C	C	G			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr3:195513425C>G	ENST00000463781.3	-	2	5485	c.5026G>C	c.(5026-5028)Ggt>Cgt	p.G1676R	MUC4_ENST00000475231.1_Missense_Mutation_p.G1676R|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GTGGCGTGACCGGTGGATGCT	0.607																																																	0			3											36.0	34.0	34.0					3																	195513425		689	1583	2272	196997820	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.5026G>C	3.37:g.195513425C>G	ENSP00000417498:p.Gly1676Arg		196997820	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	-	2.575	-0.298681	0.05532	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.32515	1.49;1.45	0.423	-0.846	0.10734	.	.	.	.	.	T	0.22936	0.0554	N	0.08118	0	0.09310	N	1	D	0.64830	0.994	P	0.59546	0.859	T	0.12993	-1.0526	8	.	.	.	.	4.1233	0.10116	0.651:0.3489:1.0E-4:0.0	.	1676	E7ESK3	.	R	1676	ENSP00000417498:G1676R;ENSP00000420243:G1676R	.	G	-	1	0	MUC4	196997820	0.000000	0.05858	0.006000	0.13384	0.006000	0.05464	-0.235000	0.09016	-0.784000	0.04528	0.089000	0.15464	GGT		0.607	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
KDM5A	5927	hgsc.bcm.edu	37	12	438067	438067	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr12:438067C>T	ENST00000399788.2	-	14	2264	c.1902G>A	c.(1900-1902)atG>atA	p.M634I	KDM5A_ENST00000382815.4_Missense_Mutation_p.M634I	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	634					chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						CTTTGCAGACCATGGCAGCCA	0.443			T	NUP98	AML																																			Dom	yes		12	12p11	5927	"""lysine (K)-specific demethylase 5A, JARID1A"""		L	0			12											103.0	97.0	99.0					12																	438067		1945	4152	6097	308328	SO:0001583	missense	5927				CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	9886	protein-coding gene	gene with protein product		180202	"""retinoblastoma-binding protein 2"", ""Jumonji, AT rich interactive domain 1A (RBBP2-like)"", ""jumonji, AT rich interactive domain 1A"""	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.1902G>A	12.37:g.438067C>T	ENSP00000382688:p.Met634Ile		308328	A8MV76|Q4LE72|Q86XZ1	Missense_Mutation	SNP	ENST00000399788.2	37	CCDS41736.1	.	.	.	.	.	.	.	.	.	.	C	13.81	2.347926	0.41599	.	.	ENSG00000073614	ENST00000261253;ENST00000399787;ENST00000399788;ENST00000382815;ENST00000544760	T;T;T	0.70164	-0.46;-0.46;-0.46	5.27	4.37	0.52481	.	0.164014	0.64402	D	0.000017	T	0.42944	0.1225	N	0.03608	-0.345	0.36347	D	0.859843	B;B;B;B	0.25105	0.118;0.005;0.006;0.108	B;B;B;B	0.28385	0.016;0.017;0.017;0.089	T	0.51348	-0.8717	10	0.66056	D	0.02	-18.2113	9.0003	0.36077	0.1489:0.7772:0.0:0.0739	.	253;634;634;634	B4DVX3;F5H1F7;P29375;P29375-2	.;.;KDM5A_HUMAN;.	I	253;593;634;634;253	ENSP00000382688:M634I;ENSP00000372265:M634I;ENSP00000440622:M253I	ENSP00000261253:M253I	M	-	3	0	KDM5A	308328	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.732000	0.38146	1.338000	0.45544	0.462000	0.41574	ATG		0.443	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1	NM_005056	
TUBA1B	10376	hgsc.bcm.edu	37	12	49521809	49521809	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr12:49521809T>C	ENST00000336023.5	-	4	1382	c.1288A>G	c.(1288-1290)Aag>Gag	p.K430E	RP11-386G11.10_ENST00000552893.1_RNA|RP11-386G11.10_ENST00000547387.1_RNA|RP11-386G11.10_ENST00000548149.1_RNA	NM_006082.2	NP_006073.2	P68363	TBA1B_HUMAN	tubulin, alpha 1b	430					'de novo' posttranslational protein folding (GO:0051084)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|cellular response to interleukin-4 (GO:0071353)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule cytoskeleton organization (GO:0000226)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(4)	12						TCATAATCCTTCTCAAGGGCA	0.507																																																	0			12											120.0	128.0	125.0					12																	49521809		2203	4300	6503	47808076	SO:0001583	missense	10376			AF081484	CCDS31792.1	12q13.12	2007-02-12				ENSG00000123416		"""Tubulins"""	18809	protein-coding gene	gene with protein product	"""tubulin, alpha, ubiquitous"""	602530				12054644, 6646120	Standard	NM_006082		Approved	K-ALPHA-1	uc001rtm.3	P68363	OTTHUMG00000170410	ENST00000336023.5:c.1288A>G	12.37:g.49521809T>C	ENSP00000336799:p.Lys430Glu		47808076	P04687|P05209|Q27I68|Q8WU19	Missense_Mutation	SNP	ENST00000336023.5	37	CCDS31792.1	.	.	.	.	.	.	.	.	.	.	T	14.33	2.503766	0.44558	.	.	ENSG00000123416	ENST00000336023;ENST00000429203	D	0.83673	-1.75	5.45	4.29	0.51040	Tubulin, C-terminal (1);Tubulin/FtsZ, C-terminal (1);	0.000000	0.47093	U	0.000247	D	0.85609	0.5736	M	0.79614	2.46	0.80722	D	1	P	0.36959	0.575	B	0.44085	0.44	D	0.85519	0.1202	10	0.87932	D	0	.	11.7799	0.52008	0.0:0.0:0.1473:0.8527	.	430	P68363	TBA1B_HUMAN	E	430;161	ENSP00000336799:K430E	ENSP00000336799:K430E	K	-	1	0	TUBA1B	47808076	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.878000	0.87231	0.895000	0.36342	0.528000	0.53228	AAG		0.507	TUBA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409005.1	NM_006082	
NCKAP5L	57701	hgsc.bcm.edu	37	12	50190653	50190653	+	Silent	SNP	C	C	T	rs3741555	byFrequency	TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr12:50190653C>T	ENST00000335999.6	-	8	1191	c.990G>A	c.(988-990)caG>caA	p.Q330Q		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	326	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						CCTCAAGGAGCTGGCCCAGGT	0.652													C|||	1382	0.275958	0.23	0.3847	5008	,	,		16740	0.5466		0.0537	False		,,,				2504	0.2106																0			12						C		818,3146		97,624,1261	16.0	19.0	18.0		990	2.2	1.0	12	dbSNP_107	18	394,7876		9,376,3750	no	coding-synonymous	NCKAP5L	NM_001037806.3		106,1000,5011	TT,TC,CC		4.7642,20.6357,9.9068		330/1335	50190653	1212,11022	1982	4135	6117	48476920	SO:0001819	synonymous_variant	0			AB046822	CCDS41781.2	12q13.12	2009-08-14	2009-08-14	2009-08-14	ENSG00000167566	ENSG00000167566			29321	protein-coding gene	gene with protein product		615104	"""KIAA1602"""	KIAA1602			Standard	NM_001037806		Approved		uc009zlk.2	Q9HCH0	OTTHUMG00000156969	ENST00000335999.6:c.990G>A	12.37:g.50190653C>T			48476920	Q2TB26|Q71RH1|Q8N4W1|Q96HX2	Silent	SNP	ENST00000335999.6	37	CCDS41781.2	602	0.27564102564102566	118	0.23983739837398374	126	0.34806629834254144	319	0.5576923076923077	39	0.051451187335092345	C	8.398	0.841268	0.16891	0.206357	0.047642	ENSG00000167566	ENST00000433948	.	.	.	4.12	2.21	0.28008	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.99999999738904	.	.	.	.	.	.	T	0.48007	-0.9072	3	.	.	.	-6.4151	7.0432	0.25031	0.0:0.6158:0.0:0.3842	rs3741555;rs58965238;rs3741555	.	.	.	T	45	.	.	A	-	1	0	NCKAP5L	48476920	0.992000	0.36948	0.993000	0.49108	0.963000	0.63663	0.922000	0.28734	0.299000	0.22661	0.462000	0.41574	GCT		0.652	NCKAP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346884.2	XM_035497	
LEMD3	23592	hgsc.bcm.edu	37	12	65564798	65564798	+	Silent	SNP	G	G	A			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr12:65564798G>A	ENST00000308330.2	+	1	1448	c.1422G>A	c.(1420-1422)tcG>tcA	p.S474S	LEMD3_ENST00000541171.1_Intron	NM_001167614.1|NM_014319.4	NP_001161086.1|NP_055134.2	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3	474					negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of cell cycle (GO:0051726)|skeletal muscle cell differentiation (GO:0035914)	integral component of membrane (GO:0016021)|integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		ACTACTTGTCGATGTTTCTCT	0.478																																																	0			12											102.0	82.0	89.0					12																	65564798		2203	4300	6503	63851065	SO:0001819	synonymous_variant	23592			AF263918	CCDS8972.1	12q14	2008-02-05			ENSG00000174106	ENSG00000174106			28887	protein-coding gene	gene with protein product		607844				10671519, 15489854	Standard	NM_014319		Approved	MAN1	uc001ssl.2	Q9Y2U8	OTTHUMG00000168840	ENST00000308330.2:c.1422G>A	12.37:g.65564798G>A			63851065	Q9NT47|Q9NYA5	Silent	SNP	ENST00000308330.2	37	CCDS8972.1																																																																																				0.478	LEMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401312.2		
MSRB3	253827	hgsc.bcm.edu	37	12	65672594	65672594	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr12:65672594T>C	ENST00000355192.3	+	1	172	c.46T>C	c.(46-48)Tcc>Ccc	p.S16P	MSRB3_ENST00000538725.1_3'UTR|MSRB3_ENST00000535664.1_5'UTR|MSRB3_ENST00000308259.5_5'UTR|RP11-305O6.3_ENST00000545709.1_RNA|MSRB3_ENST00000540804.1_Missense_Mutation_p.S16P	NM_198080.3	NP_932346.1	Q8IXL7	MSRB3_HUMAN	methionine sulfoxide reductase B3	16					protein repair (GO:0030091)|response to oxidative stress (GO:0006979)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	peptide-methionine (R)-S-oxide reductase activity (GO:0033743)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.131)		gctctgcctctccctctgcct	0.736																																																	0			12											19.0	18.0	18.0					12																	65672594		2154	4231	6385	63958861	SO:0001583	missense	253827			BX640871	CCDS8973.1, CCDS31853.1	12q14.3	2011-11-29			ENSG00000174099	ENSG00000174099			27375	protein-coding gene	gene with protein product		613719	"""deafness, autosomal recessive 74"""	DFNB74		21185009	Standard	NM_198080		Approved	FLJ36866, DKFZp686C1178	uc021qzy.1	Q8IXL7	OTTHUMG00000168866	ENST00000355192.3:c.46T>C	12.37:g.65672594T>C	ENSP00000347324:p.Ser16Pro		63958861	B4DR19|B7ZAQ0|Q6UXS2	Missense_Mutation	SNP	ENST00000355192.3	37	CCDS8973.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.81|13.81	2.348869|2.348869	0.41599|0.41599	.|.	.|.	ENSG00000174099|ENSG00000174099	ENST00000541189|ENST00000355192;ENST00000540804	T|T;T	0.65916|0.64260	-0.18|-0.09;-0.09	.|.	.|.	.|.	.|.	.|9.681730	.|0.00397	.|N	.|0.000046	T|T	0.41096|0.41096	0.1144|0.1144	N|N	0.08118|0.08118	0|0	0.50039|0.50039	D|D	0.999842|0.999842	.|B	.|0.09022	.|0.002	.|B	.|0.01281	.|0.0	T|T	0.27839|0.27839	-1.0062|-1.0062	4|7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|16	.|Q8IXL7	.|MSRB3_HUMAN	P|P	24|16	ENSP00000440722:L24P|ENSP00000347324:S16P;ENSP00000437623:S16P	.|.	L|S	+|+	2|1	0|0	MSRB3|MSRB3	63958861|63958861	0.960000|0.960000	0.32886|0.32886	0.882000|0.882000	0.34594|0.34594	0.826000|0.826000	0.46750|0.46750	-0.339000|-0.339000	0.07832|0.07832	0.056000|0.056000	0.16144|0.16144	0.055000|0.055000	0.15244|0.15244	CTC|TCC		0.736	MSRB3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000401421.1	NM_198080	
PTPRQ	374462	hgsc.bcm.edu	37	12	80889013	80889013	+	Missense_Mutation	SNP	C	C	G			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr12:80889013C>G	ENST00000266688.5	+	17	1733	c.1733C>G	c.(1732-1734)tCt>tGt	p.S578C				Q9UMZ3	PTPRQ_HUMAN	protein tyrosine phosphatase, receptor type, Q	624	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				regulation of fat cell differentiation (GO:0045598)	integral component of membrane (GO:0016021)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(7)|kidney(9)|lung(2)|prostate(1)|skin(2)|stomach(2)	24						aatattaGTTCTTCATCTATT	0.294																																																	0			12											36.0	30.0	32.0					12																	80889013		692	1585	2277	79413144	SO:0001583	missense	374462			AF169351	CCDS73501.1	12q21.31	2013-02-11	2001-12-04		ENSG00000139304	ENSG00000139304		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9679	protein-coding gene	gene with protein product		603317	"""deafness, autosomal recessive 84"""	DFNB84		20346435	Standard	NM_001145026		Approved		uc001sze.2	Q9UMZ3	OTTHUMG00000170171	ENST00000266688.5:c.1733C>G	12.37:g.80889013C>G	ENSP00000266688:p.Ser578Cys		79413144		Missense_Mutation	SNP	ENST00000266688.5	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.4|22.4	4.286835|4.286835	0.80803|0.80803	.|.	.|.	ENSG00000139304|ENSG00000139304	ENST00000532722|ENST00000266688	.|T	.|0.60672	.|0.17	6.03|6.03	6.03|6.03	0.97812|0.97812	.|Fibronectin, type III (4);Immunoglobulin-like fold (1);	.|.	.|.	.|.	.|.	T|T	0.78553|0.78553	0.4301|0.4301	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.77004	.|0.989	T|T	0.78122|0.78122	-0.2327|-0.2327	4|8	.|0.59425	.|D	.|0.04	.|.	20.5753|20.5753	0.99366|0.99366	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|624	.|Q9UMZ3	.|PTPRQ_HUMAN	V|C	279|578	.|ENSP00000266688:S578C	.|ENSP00000266688:S578C	L|S	+|+	1|2	0|0	PTPRQ|PTPRQ	79413144|79413144	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	6.990000|6.990000	0.76225|0.76225	2.868000|2.868000	0.98415|0.98415	0.557000|0.557000	0.71058|0.71058	CTT|TCT		0.294	PTPRQ-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001145026	
UHRF1BP1L	23074	hgsc.bcm.edu	37	12	100476887	100476887	+	Silent	SNP	T	T	C			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr12:100476887T>C	ENST00000279907.7	-	11	1526	c.1314A>G	c.(1312-1314)acA>acG	p.T438T	UHRF1BP1L_ENST00000545232.2_Silent_p.T88T|UHRF1BP1L_ENST00000356828.3_Silent_p.T438T	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	438										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						GTGTTCTGCATGTCCCTTTCA	0.348																																																	0			12											156.0	141.0	146.0					12																	100476887		2203	4300	6503	99001018	SO:0001819	synonymous_variant	23074				CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.1314A>G	12.37:g.100476887T>C			99001018	A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Silent	SNP	ENST00000279907.7	37	CCDS31882.1																																																																																				0.348	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1	NM_001006947	
KDM2B	84678	hgsc.bcm.edu	37	12	121880495	121880495	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr12:121880495C>T	ENST00000377071.4	-	19	2821	c.2749G>A	c.(2749-2751)Gcg>Acg	p.A917T	KDM2B_ENST00000377069.4_Missense_Mutation_p.A848T|KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000542973.1_Missense_Mutation_p.A285T	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	917					embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						CTGGGTCCCGCGGTGGGGGAG	0.692																																																	0			12											14.0	14.0	14.0					12																	121880495		1872	4081	5953	120364878	SO:0001583	missense	84678			AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13610	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1B"""	609078	"""F-box and leucine-rich repeat protein 10"""	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.2749G>A	12.37:g.121880495C>T	ENSP00000366271:p.Ala917Thr		120364878	A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Missense_Mutation	SNP	ENST00000377071.4	37	CCDS41850.1	.	.	.	.	.	.	.	.	.	.	C	18.51	3.640192	0.67244	.	.	ENSG00000089094	ENST00000397480;ENST00000542973;ENST00000377069;ENST00000377071;ENST00000540043;ENST00000261824	T;T;T	0.25912	2.07;2.38;1.77	5.96	5.96	0.96718	.	0.000000	0.64402	D	0.000014	T	0.49355	0.1552	L	0.59436	1.845	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	P;P;D;P	0.67103	0.819;0.87;0.949;0.902	T	0.26087	-1.0113	10	0.48119	T	0.1	-26.0179	20.3928	0.98949	0.0:1.0:0.0:0.0	.	357;917;848;360	B7ZB05;Q8NHM5;A8MRS1;B4DSN4	.;KDM2B_HUMAN;.;.	T	905;285;848;917;360;920	ENSP00000437821:A285T;ENSP00000366269:A848T;ENSP00000366271:A917T	ENSP00000261824:A920T	A	-	1	0	KDM2B	120364878	1.000000	0.71417	0.214000	0.23707	0.051000	0.14879	7.750000	0.85110	2.813000	0.96785	0.655000	0.94253	GCG		0.692	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	NM_032590	
NCOR2	9612	hgsc.bcm.edu	37	12	124887096	124887096	+	Silent	SNP	T	T	C	rs3040832		TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr12:124887096T>C	ENST00000405201.1	-	14	1494	c.1494A>G	c.(1492-1494)caA>caG	p.Q498Q	NCOR2_ENST00000404121.2_Silent_p.Q68Q|NCOR2_ENST00000356219.3_Silent_p.Q498Q|NCOR2_ENST00000404621.1_Silent_p.Q497Q|NCOR2_ENST00000429285.2_Silent_p.Q497Q|NCOR2_ENST00000397355.1_Silent_p.Q498Q			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	498	Poly-Gln.				cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		gctgctgctgttgttgctgct	0.617																																																	0			12											9.0	10.0	10.0					12																	124887096		2047	4186	6233	123453049	SO:0001819	synonymous_variant	9612			U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.1494A>G	12.37:g.124887096T>C			123453049	O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Silent	SNP	ENST00000405201.1	37	CCDS41858.2																																																																																				0.617	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312	
GABRA5	2558	hgsc.bcm.edu	37	15	27126103	27126103	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr15:27126103C>T	ENST00000335625.5	+	4	1085	c.197C>T	c.(196-198)cCc>cTc	p.P66L	GABRA5_ENST00000400081.3_Missense_Mutation_p.P66L|GABRB3_ENST00000541819.2_Intron|GABRA5_ENST00000557449.1_3'UTR|GABRA5_ENST00000355395.5_Missense_Mutation_p.P66L	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	66					associative learning (GO:0008306)|behavioral fear response (GO:0001662)|brain development (GO:0007420)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zopiclone(DB01198)	AGACTTCGGCCCGGGCTGGGA	0.512																																																	0			15											70.0	70.0	70.0					15																	27126103		2002	4172	6174	24677196	SO:0001583	missense	2558				CCDS45194.1	15q12	2012-06-22			ENSG00000186297	ENSG00000186297		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4079	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 5"""	137142				1321750	Standard	NM_000810		Approved		uc021sgi.1	P31644	OTTHUMG00000171824	ENST00000335625.5:c.197C>T	15.37:g.27126103C>T	ENSP00000335592:p.Pro66Leu		24677196	A8K338|Q14DC2|Q53XL6|Q9NYT3|Q9NYT4|Q9NYT5	Missense_Mutation	SNP	ENST00000335625.5	37	CCDS45194.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.974144	0.92919	.	.	ENSG00000186297	ENST00000335625;ENST00000355395;ENST00000555182;ENST00000400081;ENST00000554038;ENST00000554596;ENST00000554599;ENST00000554083	D;D;D;D;D;D;D;D	0.94966	-3.57;-3.57;-3.57;-3.57;-3.57;-3.57;-3.57;-3.57	5.55	5.55	0.83447	Neurotransmitter-gated ion-channel ligand-binding (3);	0.105687	0.64402	D	0.000003	D	0.98204	0.9406	H	0.95079	3.62	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.99253	1.0888	10	0.87932	D	0	.	18.5045	0.90892	0.0:1.0:0.0:0.0	.	66	P31644	GBRA5_HUMAN	L	66;66;34;66;66;66;66;34	ENSP00000335592:P66L;ENSP00000347557:P66L;ENSP00000450653:P34L;ENSP00000382953:P66L;ENSP00000451527:P66L;ENSP00000450806:P66L;ENSP00000450717:P66L;ENSP00000450529:P34L	ENSP00000335592:P66L	P	+	2	0	GABRA5	24677196	1.000000	0.71417	0.961000	0.40146	0.844000	0.47949	7.617000	0.83032	2.614000	0.88457	0.561000	0.74099	CCC		0.512	GABRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415234.1		
TRPM1	4308	hgsc.bcm.edu	37	15	31319180	31319180	+	Missense_Mutation	SNP	C	C	T	rs200369359		TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr15:31319180C>T	ENST00000256552.6	-	26	3581	c.3434G>A	c.(3433-3435)cGt>cAt	p.R1145H	RP11-348B17.1_ENST00000558755.1_RNA|RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000542188.1_Missense_Mutation_p.R1162H|TRPM1_ENST00000397795.2_Missense_Mutation_p.R1123H	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1									p.R1123H(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GCCGCTGAGACGCATAATGAT	0.488																																																	1	Substitution - Missense(1)	large_intestine(1)	15											129.0	124.0	125.0					15																	31319180		1937	4154	6091	29106472	SO:0001583	missense	4308			AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.3434G>A	15.37:g.31319180C>T	ENSP00000256552:p.Arg1145His		29106472		Missense_Mutation	SNP	ENST00000256552.6	37	CCDS58346.1	.	.	.	.	.	.	.	.	.	.	C	11.00	1.509850	0.27036	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.55234	0.55;0.53;0.55	5.6	4.68	0.58851	.	0.049694	0.85682	N	0.000000	T	0.38295	0.1035	L	0.31926	0.97	0.50632	D	0.999882	B;B	0.28760	0.221;0.141	B;B	0.26202	0.067;0.018	T	0.17018	-1.0383	10	0.07325	T	0.83	-17.3962	14.2219	0.65833	0.0:0.9284:0.0:0.0716	.	1117;1123	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	H	1123;1162;1145;1123	ENSP00000380897:R1123H;ENSP00000437849:R1162H;ENSP00000256552:R1145H	ENSP00000256552:R1145H	R	-	2	0	TRPM1	29106472	0.994000	0.37717	0.781000	0.31783	0.137000	0.21094	3.330000	0.52068	1.364000	0.46038	0.655000	0.94253	CGT		0.488	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420	
EIF2AK4	440275	hgsc.bcm.edu	37	15	40289214	40289214	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr15:40289214A>G	ENST00000263791.5	+	19	2859	c.2816A>G	c.(2815-2817)cAc>cGc	p.H939R	EIF2AK4_ENST00000382727.2_Missense_Mutation_p.H911R	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	939	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.		H -> Y (in a lung neuroendocrine carcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		cellular response to starvation (GO:0009267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of translation (GO:0017148)|protein phosphorylation (GO:0006468)|regulation of translational initiation (GO:0006446)|regulation of translational initiation in response to stress (GO:0043558)	cytosolic ribosome (GO:0022626)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		ATGTCCTATCACCCCATGGTC	0.403																																																	0			15											241.0	224.0	229.0					15																	40289214		1856	4101	5957	38076506	SO:0001583	missense	440275			AB037759	CCDS42016.1	15q13.3	2008-08-18				ENSG00000128829			19687	protein-coding gene	gene with protein product		609280				10504407	Standard	XM_005254392		Approved	GCN2, KIAA1338	uc001zkm.1	Q9P2K8		ENST00000263791.5:c.2816A>G	15.37:g.40289214A>G	ENSP00000263791:p.His939Arg		38076506	C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Missense_Mutation	SNP	ENST00000263791.5	37	CCDS42016.1	.	.	.	.	.	.	.	.	.	.	A	6.794	0.515425	0.12944	.	.	ENSG00000128829	ENST00000263791;ENST00000382727	T;T	0.22945	1.93;1.93	5.98	4.86	0.63082	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.177555	0.51477	D	0.000095	T	0.11281	0.0275	N	0.11255	0.115	0.33784	D	0.624643	B	0.02656	0.0	B	0.08055	0.003	T	0.19192	-1.0313	10	0.07990	T	0.79	-18.3238	8.7718	0.34737	0.8595:0.0:0.1405:0.0	.	939	Q9P2K8	E2AK4_HUMAN	R	939;911	ENSP00000263791:H939R;ENSP00000372174:H911R	ENSP00000263791:H939R	H	+	2	0	EIF2AK4	38076506	0.994000	0.37717	1.000000	0.80357	0.983000	0.72400	2.766000	0.47629	2.293000	0.77203	0.477000	0.44152	CAC		0.403	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418395.1		
UNC13C	440279	hgsc.bcm.edu	37	15	54590047	54590047	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr15:54590047C>T	ENST00000260323.11	+	11	4027	c.4027C>T	c.(4027-4029)Cga>Tga	p.R1343*	UNC13C_ENST00000537900.1_Nonsense_Mutation_p.R1341*|UNC13C_ENST00000545554.1_Nonsense_Mutation_p.R1343*	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1343					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)	p.R1343*(1)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TGGGGCCATACGATTGAAAAT	0.348																																																	1	Substitution - Nonsense(1)	haematopoietic_and_lymphoid_tissue(1)	15											71.0	69.0	70.0					15																	54590047		1857	4087	5944	52377339	SO:0001587	stop_gained	440279			AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.4027C>T	15.37:g.54590047C>T	ENSP00000260323:p.Arg1343*		52377339	Q0P613|Q8ND48|Q96NP3	Nonsense_Mutation	SNP	ENST00000260323.11	37	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	C	43	10.396393	0.99397	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	.	.	.	5.59	2.46	0.29980	.	0.169417	0.49916	D	0.000125	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.329	0.66541	0.6135:0.3865:0.0:0.0	.	.	.	.	X	1343;1343;1341	.	ENSP00000260323:R1343X	R	+	1	2	UNC13C	52377339	0.566000	0.26618	0.824000	0.32777	0.978000	0.69477	0.394000	0.20834	0.648000	0.30732	0.650000	0.86243	CGA		0.348	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166	
PKM	5315	hgsc.bcm.edu	37	15	72499525	72499525	+	Silent	SNP	C	C	T			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr15:72499525C>T	ENST00000335181.5	-	7	1033	c.930G>A	c.(928-930)caG>caA	p.Q310Q	PKM_ENST00000565184.1_Silent_p.Q310Q|PKM_ENST00000568459.1_Silent_p.Q310Q|PKM_ENST00000389093.3_Silent_p.Q310Q|PKM_ENST00000449901.2_Silent_p.Q295Q|PKM_ENST00000565154.1_Silent_p.Q310Q|PKM_ENST00000319622.6_Silent_p.Q310Q|PKM_ENST00000568883.1_Silent_p.Q145Q	NM_002654.4	NP_002645.3	P14618	KPYM_HUMAN	pyruvate kinase, muscle	310	Interaction with POU5F1.				carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|programmed cell death (GO:0012501)|small molecule metabolic process (GO:0044281)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|potassium ion binding (GO:0030955)|pyruvate kinase activity (GO:0004743)			endometrium(1)|lung(7)	8					Pyruvic acid(DB00119)	TCATCATCTTCTGAGCAAGGA	0.532																																																	0			15											116.0	84.0	95.0					15																	72499525		2199	4297	6496	70286579	SO:0001819	synonymous_variant	5315			M23725	CCDS32284.1, CCDS32285.1, CCDS55972.1, CCDS73752.1	15q23	2012-10-02		2012-05-23	ENSG00000067225	ENSG00000067225	2.7.1.40		9021	protein-coding gene	gene with protein product		179050		PKM2		2040271	Standard	NM_002654		Approved	THBP1, OIP3, PK3	uc002atr.1	P14618	OTTHUMG00000172709	ENST00000335181.5:c.930G>A	15.37:g.72499525C>T			70286579	A6NFK3|B2R5N8|B3KRY0|B4DFX8|B4DUU6|P14786|Q53GK4|Q96E76|Q9BWB5|Q9UCV6|Q9UPF2	Silent	SNP	ENST00000335181.5	37	CCDS32284.1																																																																																				0.532	PKM-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420056.1		
BNC1	646	hgsc.bcm.edu	37	15	83926804	83926804	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr15:83926804C>T	ENST00000345382.2	-	5	2460	c.2375G>A	c.(2374-2376)cGt>cAt	p.R792H	BNC1_ENST00000569704.1_Missense_Mutation_p.R785H|RP11-382A20.4_ENST00000565495.1_RNA	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	792					chromosome organization (GO:0051276)|epidermis development (GO:0008544)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						GTAAGCTGCACGGAAATGATC	0.443																																																	0			15											152.0	135.0	141.0					15																	83926804		2203	4300	6503	81717808	SO:0001583	missense	646			L03427	CCDS10324.1, CCDS73771.1	15q25.1	2013-05-20	2004-04-30	2004-05-04	ENSG00000169594	ENSG00000169594		"""Zinc fingers, C2H2-type"""	1081	protein-coding gene	gene with protein product		601930	"""basonuclin"""	BNC		1332044	Standard	NM_001717		Approved	HsT19447	uc002bjt.1	Q01954	OTTHUMG00000147362	ENST00000345382.2:c.2375G>A	15.37:g.83926804C>T	ENSP00000307041:p.Arg792His		81717808	Q15840	Missense_Mutation	SNP	ENST00000345382.2	37	CCDS10324.1	.	.	.	.	.	.	.	.	.	.	C	12.32	1.903640	0.33628	.	.	ENSG00000169594	ENST00000345382;ENST00000541809	T	0.44083	0.93	5.73	-5.78	0.02362	.	0.862781	0.10360	N	0.684096	T	0.23330	0.0564	L	0.29908	0.895	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.04013	0.001;0.0	T	0.29971	-0.9994	10	0.16420	T	0.52	-0.537	8.9029	0.35505	0.0:0.1291:0.3009:0.57	.	785;792	F5GY04;Q01954	.;BNC1_HUMAN	H	792;785	ENSP00000307041:R792H	ENSP00000307041:R792H	R	-	2	0	BNC1	81717808	0.000000	0.05858	0.009000	0.14445	0.902000	0.53008	-0.580000	0.05827	-1.041000	0.03266	0.563000	0.77884	CGT		0.443	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304006.1	NM_001717	
SHROOM2	357	hgsc.bcm.edu	37	X	9900582	9900582	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chrX:9900582G>A	ENST00000380913.3	+	6	3349	c.3259G>A	c.(3259-3261)Gtg>Atg	p.V1087M	SHROOM2_ENST00000418909.2_5'UTR|SHROOM2_ENST00000493668.1_3'UTR	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1087					apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				TGACGCCCCCGTGGGCGTCCT	0.692																																																	0			X											32.0	31.0	31.0					X																	9900582		2202	4300	6502	9860582	SO:0001583	missense	357			X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"""apical protein, Xenopus laevis-like"", ""apical protein-like (Xenopus laevis)"""	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.3259G>A	X.37:g.9900582G>A	ENSP00000370299:p.Val1087Met		9860582	B9EIQ7	Missense_Mutation	SNP	ENST00000380913.3	37	CCDS14135.1	.	.	.	.	.	.	.	.	.	.	C	16.37	3.103438	0.56291	.	.	ENSG00000146950	ENST00000380913	T	0.14516	2.5	4.27	-0.00577	0.14016	.	.	.	.	.	T	0.06554	0.0168	N	0.08118	0	0.09310	N	0.999998	B	0.06786	0.001	B	0.01281	0.0	T	0.40194	-0.9576	9	0.30078	T	0.28	.	8.6797	0.34201	0.0:0.4757:0.3896:0.1346	.	1087	Q13796	SHRM2_HUMAN	M	1087	ENSP00000370299:V1087M	ENSP00000370299:V1087M	V	+	1	0	SHROOM2	9860582	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.455000	0.21843	-0.117000	0.11872	-0.178000	0.13098	GTG		0.692	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055721.1	NM_001649	
MAGEB1	4112	hgsc.bcm.edu	37	X	30268764	30268764	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chrX:30268764T>C	ENST00000378981.3	+	4	475	c.154T>C	c.(154-156)Tcc>Ccc	p.S52P	MAGEB1_ENST00000397548.2_Missense_Mutation_p.S52P|MAGEB1_ENST00000397550.1_Missense_Mutation_p.S52P	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	52										NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						TCCCACAAGCTCCCCTGCTGC	0.592																																																	0			X											36.0	29.0	31.0					X																	30268764		2202	4299	6501	30178685	SO:0001583	missense	4112				CCDS14222.1	Xp21.3	2009-03-17			ENSG00000214107	ENSG00000214107			6808	protein-coding gene	gene with protein product	"""DSS/AHC critical interval MAGE superfamily 10"", ""cancer/testis antigen family 3, member 1"""	300097				7761436, 9441743	Standard	NM_002363		Approved	MAGEL1, MAGE-Xp, DAM10, MGC9322, CT3.1	uc004dce.3	P43366	OTTHUMG00000021322	ENST00000378981.3:c.154T>C	X.37:g.30268764T>C	ENSP00000368264:p.Ser52Pro		30178685	B2RC79|O00601|O75862|Q6FHJ0|Q96CW8	Missense_Mutation	SNP	ENST00000378981.3	37	CCDS14222.1	.	.	.	.	.	.	.	.	.	.	T	9.580	1.123272	0.20959	.	.	ENSG00000214107	ENST00000378981;ENST00000397550;ENST00000397548	T;T;T	0.05382	3.45;3.45;3.45	3.99	-2.03	0.07365	Melanoma associated antigen, MAGE, N-terminal (1);	0.874836	0.09509	N	0.792582	T	0.07773	0.0195	L	0.58428	1.81	0.09310	N	1	B	0.22276	0.067	B	0.33750	0.169	T	0.45920	-0.9228	10	0.33940	T	0.23	.	3.7609	0.08603	0.4993:0.1142:0.0:0.3865	.	52	P43366	MAGB1_HUMAN	P	52	ENSP00000368264:S52P;ENSP00000380683:S52P;ENSP00000380681:S52P	ENSP00000368264:S52P	S	+	1	0	MAGEB1	30178685	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.955000	0.03869	-0.475000	0.06852	-0.314000	0.08810	TCC		0.592	MAGEB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056160.1	NM_002363	
FAM47B	170062	hgsc.bcm.edu	37	X	34961413	34961413	+	Silent	SNP	C	C	T			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chrX:34961413C>T	ENST00000329357.5	+	1	501	c.465C>T	c.(463-465)ccC>ccT	p.P155P		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	155										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						AGCTGGATCCCGAGAGGAAGC	0.562																																																	0			X											56.0	50.0	52.0					X																	34961413		2202	4300	6502	34871334	SO:0001819	synonymous_variant	170062			BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.465C>T	X.37:g.34961413C>T			34871334	Q5JQN5|Q6PIG3	Silent	SNP	ENST00000329357.5	37	CCDS14236.1																																																																																				0.562	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631	
DGKK	139189	hgsc.bcm.edu	37	X	50111945	50111945	+	RNA	SNP	T	T	C			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chrX:50111945T>C	ENST00000376025.2	-	0	3868							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					AGGGCTACAGTTGAGATCTCG	0.393																																																	0			X											173.0	142.0	152.0					X																	50111945		1886	4114	6000	50128685			139189			AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50111945T>C			50128685	B2RP91	Missense_Mutation	SNP	ENST00000376025.2	37																																																																																					0.393	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742	
HUWE1	10075	hgsc.bcm.edu	37	X	53610679	53610679	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chrX:53610679G>A	ENST00000342160.3	-	41	5816	c.5359C>T	c.(5359-5361)Cgg>Tgg	p.R1787W	HUWE1_ENST00000262854.6_Missense_Mutation_p.R1787W			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1787					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TTGTGGTCCCGGGTGAGCCTC	0.522																																																	0			X											115.0	90.0	99.0					X																	53610679		2203	4300	6503	53627404	SO:0001583	missense	10075			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.5359C>T	X.37:g.53610679G>A	ENSP00000340648:p.Arg1787Trp		53627404	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.9|20.9	4.069963|4.069963	0.76301|0.76301	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000427052|ENST00000342160;ENST00000262854	.|T;T	.|0.57107	.|0.42;0.42	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.72653|0.72653	0.3487|0.3487	M|M	0.72353|0.72353	2.195|2.195	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.998;0.999	T|T	0.75806|0.75806	-0.3188|-0.3188	5|10	.|0.87932	.|D	.|0	.|.	17.2084|17.2084	0.86924|0.86924	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1787;1787	.|Q7Z6Z7;Q7Z6Z7-2	.|HUWE1_HUMAN;.	L|W	820|1787	.|ENSP00000340648:R1787W;ENSP00000262854:R1787W	.|ENSP00000262854:R1787W	P|R	-|-	2|1	0|2	HUWE1|HUWE1	53627404|53627404	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.589000|7.589000	0.82641|0.82641	2.329000|2.329000	0.79093|0.79093	0.600000|0.600000	0.82982|0.82982	CCG|CGG		0.522	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119	
ITIH6	347365	hgsc.bcm.edu	37	X	54780087	54780087	+	Missense_Mutation	SNP	C	C	A			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chrX:54780087C>A	ENST00000218436.6	-	11	3378	c.3349G>T	c.(3349-3351)Gca>Tca	p.A1117S		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	1117					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										CTCTTACCTGCCTTTGGGTCC	0.498																																																	0			X											108.0	91.0	97.0					X																	54780087		2203	4300	6503	54796812	SO:0001583	missense	347365			AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"""inter-alpha (globulin) inhibitor H5-like"""	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.3349G>T	X.37:g.54780087C>A	ENSP00000218436:p.Ala1117Ser		54796812	A6NN03	Missense_Mutation	SNP	ENST00000218436.6	37	CCDS14361.1	.	.	.	.	.	.	.	.	.	.	C	5.610	0.297323	0.10622	.	.	ENSG00000102313	ENST00000218436	T	0.09445	2.98	3.25	3.25	0.37280	Inter-alpha-trypsin inhibitor heavy chain, C-terminal (1);	7739.210000	0.00582	N	0.000334	T	0.09818	0.0241	N	0.04787	-0.16	0.22171	N	0.999316	D	0.55605	0.972	P	0.51701	0.677	T	0.39165	-0.9627	10	0.11794	T	0.64	.	7.8874	0.29659	0.0:0.8665:0.0:0.1335	.	1117	Q6UXX5	ITH5L_HUMAN	S	1117	ENSP00000218436:A1117S	ENSP00000218436:A1117S	A	-	1	0	ITIH5L	54796812	0.017000	0.18338	0.987000	0.45799	0.261000	0.26267	0.023000	0.13533	1.208000	0.43306	0.417000	0.27973	GCA		0.498	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510	
NHSL2	340527	hgsc.bcm.edu	37	X	71360009	71360009	+	Missense_Mutation	SNP	G	G	A	rs138074424		TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chrX:71360009G>A	ENST00000373677.1	+	2	2775	c.1513G>A	c.(1513-1515)Gta>Ata	p.V505I	NHSL2_ENST00000540800.1_Missense_Mutation_p.V871I|NHSL2_ENST00000510661.1_Missense_Mutation_p.V640I|NHSL2_ENST00000535692.1_Missense_Mutation_p.V505I			Q5HYW2	NHSL2_HUMAN	NHS-like 2	505										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					AAAACCTCCCGTAGCTGAGAA	0.537																																																	0			X						G	ILE/VAL	0,3835		0,0,1632,571	50.0	44.0	46.0		2611	-2.6	0.0	X	dbSNP_134	46	1,6726		0,1,2427,1871	yes	missense	NHSL2	NM_001013627.2	29	0,1,4059,2442	AA,AG,GG,G		0.0149,0.0,0.0095	benign	871/1226	71360009	1,10561	2203	4299	6502	71276734	SO:0001583	missense	340527					Xq13.1	2009-02-18			ENSG00000204131	ENSG00000204131			33737	protein-coding gene	gene with protein product							Standard	NM_001013627		Approved		uc011mqa.2	Q5HYW2	OTTHUMG00000021807	ENST00000373677.1:c.1513G>A	X.37:g.71360009G>A	ENSP00000362781:p.Val505Ile		71276734	B2RN94	Missense_Mutation	SNP	ENST00000373677.1	37		.	.	.	.	.	.	.	.	.	.	G	0.100	-1.154225	0.01700	0.0	1.49E-4	ENSG00000204131	ENST00000540800;ENST00000373677;ENST00000510661;ENST00000535692	T;T;T;T	0.49139	1.4;0.81;0.79;0.81	5.65	-2.61	0.06171	.	0.338179	0.25723	N	0.028738	T	0.20618	0.0496	N	0.04959	-0.14	0.09310	N	0.999996	B;B;B	0.22211	0.066;0.066;0.066	B;B;B	0.17098	0.017;0.017;0.017	T	0.22068	-1.0227	10	0.09084	T	0.74	-0.0705	13.6317	0.62200	0.2087:0.0:0.7913:0.0	.	871;640;505	F5H593;D6RBM4;Q5HYW2	.;.;NHSL2_HUMAN	I	871;505;640;505	ENSP00000444617:V871I;ENSP00000362781:V505I;ENSP00000424079:V640I;ENSP00000444914:V505I	ENSP00000362781:V505I	V	+	1	0	NHSL2	71276734	0.930000	0.31532	0.031000	0.17742	0.929000	0.56500	1.131000	0.31406	-1.033000	0.03299	-0.380000	0.06706	GTA		0.537	NHSL2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000057170.1	NM_001013627	
IL1RAPL2	26280	hgsc.bcm.edu	37	X	104440214	104440214	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chrX:104440214A>G	ENST00000372582.1	+	3	896	c.140A>G	c.(139-141)gAa>gGa	p.E47G	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.E47G	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	47	Ig-like C2-type 1.				central nervous system development (GO:0007417)|cytokine-mediated signaling pathway (GO:0019221)	integral component of membrane (GO:0016021)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TTGGCAGGTGAACCAGTCCGA	0.448																																																	0			X											175.0	139.0	151.0					X																	104440214		2203	4300	6503	104326870	SO:0001583	missense	26280			AF181285	CCDS14517.1	Xq22	2013-01-11			ENSG00000189108	ENSG00000189108		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5997	protein-coding gene	gene with protein product		300277				10757639	Standard	NM_017416		Approved	IL-1R9, TIGIRR-1, IL1RAPL-2, IL1R9	uc004elz.1	Q9NP60	OTTHUMG00000022141	ENST00000372582.1:c.140A>G	X.37:g.104440214A>G	ENSP00000361663:p.Glu47Gly		104326870	Q2M3U3|Q9NZN0	Missense_Mutation	SNP	ENST00000372582.1	37	CCDS14517.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.480357	0.84747	.	.	ENSG00000189108	ENST00000372582;ENST00000344799	T;T	0.78595	-1.19;-1.19	5.59	5.59	0.84812	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000018	D	0.89047	0.6604	M	0.87180	2.865	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.90873	0.4747	10	0.87932	D	0	.	13.9029	0.63817	1.0:0.0:0.0:0.0	.	47	Q9NP60	IRPL2_HUMAN	G	47	ENSP00000361663:E47G;ENSP00000344976:E47G	ENSP00000344976:E47G	E	+	2	0	IL1RAPL2	104326870	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.907000	0.92634	1.880000	0.54463	0.486000	0.48141	GAA		0.448	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057785.1	NM_017416	
CLDN2	9075	hgsc.bcm.edu	37	X	106171824	106171824	+	Silent	SNP	A	A	G			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chrX:106171824A>G	ENST00000541806.1	+	2	885	c.366A>G	c.(364-366)ggA>ggG	p.G122G	CLDN2_ENST00000336803.1_Silent_p.G122G|CLDN2_ENST00000540876.1_Silent_p.G122G	NM_001171092.1	NP_001164563.1	P57739	CLD2_HUMAN	claudin 2	122					calcium-independent cell-cell adhesion (GO:0016338)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						TAGCAGGTGGAGTCTTTTTCA	0.542																																																	0			X											127.0	109.0	115.0					X																	106171824		2203	4300	6503	106058480	SO:0001819	synonymous_variant	9075			AK075405	CCDS14524.1	Xq22.3-q23	2008-05-14			ENSG00000165376	ENSG00000165376		"""Claudins"""	2041	protein-coding gene	gene with protein product		300520				9892664	Standard	NM_020384		Approved		uc022ccc.1	P57739	OTTHUMG00000022154	ENST00000541806.1:c.366A>G	X.37:g.106171824A>G			106058480	B2R6B9	Silent	SNP	ENST00000541806.1	37	CCDS14524.1																																																																																				0.542	CLDN2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057815.1		
ALG13	79868	hgsc.bcm.edu	37	X	110987996	110987996	+	Silent	SNP	A	A	T	rs56717389		TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chrX:110987996A>T	ENST00000394780.3	+	24	2808	c.2796A>T	c.(2794-2796)ccA>ccT	p.P932P	ALG13_ENST00000470971.1_3'UTR|ALG13_ENST00000251943.4_Intron	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	932	Pro-rich.				cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipid glycosylation (GO:0030259)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	carbohydrate binding (GO:0030246)|cysteine-type peptidase activity (GO:0008234)|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity (GO:0004577)|poly(A) RNA binding (GO:0044822)	p.P932P(7)		endometrium(2)|lung(10)|skin(1)	13						caccaccaccacctcctcctc	0.567																																																	7	Substitution - coding silent(7)	endometrium(7)	X											10.0	8.0	8.0					X																	110987996		1493	3408	4901	110874652	SO:0001819	synonymous_variant	79868			AF220051	CCDS14559.1, CCDS55477.1, CCDS59173.1, CCDS76011.1, CCDS76012.1, CCDS76013.1	Xq23	2014-02-24	2013-02-21	2006-11-07	ENSG00000101901	ENSG00000101901	2.4.1.141	"""Tudor domain containing"", ""OTU domain containing"""	30881	protein-coding gene	gene with protein product	"""tudor domain containing 13"", ""N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase"""	300776	"""glycosyltransferase 28 domain containing 1"", ""chromosome X open reading frame 45"", ""asparagine-linked glycosylation 13 homolog (S. cerevisiae)"""	GLT28D1, CXorf45		12477932	Standard	NM_018466		Approved	MDS031, YGL047W, FLJ23018, TDRD13	uc011msy.2	Q9NP73	OTTHUMG00000022209	ENST00000394780.3:c.2796A>T	X.37:g.110987996A>T			110874652	B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	Silent	SNP	ENST00000394780.3	37	CCDS55477.1																																																																																				0.567	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272895.1	NM_018466	
ARHGAP36	158763	hgsc.bcm.edu	37	X	130215773	130215773	+	Missense_Mutation	SNP	G	G	T	rs368664815		TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chrX:130215773G>T	ENST00000276211.5	+	2	479	c.134G>T	c.(133-135)cGc>cTc	p.R45L	ARHGAP36_ENST00000370921.1_5'Flank|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.R33L	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	45					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.R45H(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						AACCCCGACCGCAGGACGAAG	0.552																																																	1	Substitution - Missense(1)	prostate(1)	X						G	LEU/ARG	0,3835		0,0,1632,571	152.0	125.0	134.0		134	1.4	0.0	X		134	1,6727		0,1,2427,1872	no	missense	ARHGAP36	NM_144967.3	102	0,1,4059,2443	TT,TG,GG,G		0.0149,0.0,0.0095	probably-damaging	45/548	130215773	1,10562	2203	4300	6503	130043454	SO:0001583	missense	0				CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"""Rho GTPase activating proteins"""	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.134G>T	X.37:g.130215773G>T	ENSP00000276211:p.Arg45Leu		130043454	B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Missense_Mutation	SNP	ENST00000276211.5	37	CCDS14628.1	.	.	.	.	.	.	.	.	.	.	G	3.610	-0.079756	0.07141	0.0	1.49E-4	ENSG00000147256	ENST00000276211;ENST00000370922;ENST00000412432	T;T;T	0.10382	2.88;2.88;2.9	4.16	1.4	0.22301	.	0.857059	0.09796	N	0.754700	T	0.06600	0.0169	N	0.19112	0.55	0.09310	N	1	B;B;B	0.34372	0.433;0.433;0.451	B;B;B	0.34536	0.185;0.185;0.127	T	0.37056	-0.9722	10	0.52906	T	0.07	.	2.9375	0.05819	0.2397:0.0:0.5418:0.2185	.	14;33;45	Q6ZRI8-2;Q6ZRI8-4;Q6ZRI8	.;.;RHG36_HUMAN	L	45;33;14	ENSP00000276211:R45L;ENSP00000359960:R33L;ENSP00000408515:R14L	ENSP00000276211:R45L	R	+	2	0	ARHGAP36	130043454	0.060000	0.20803	0.001000	0.08648	0.106000	0.19336	-0.006000	0.12833	0.156000	0.19299	-0.351000	0.07748	CGC		0.552	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355073.1	NM_144967	
MAGEC3	139081	hgsc.bcm.edu	37	X	140984899	140984899	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chrX:140984899C>T	ENST00000298296.1	+	7	1355	c.1355C>T	c.(1354-1356)cCc>cTc	p.P452L	MAGEC3_ENST00000409007.1_Missense_Mutation_p.P154L|MAGEC3_ENST00000536088.1_Missense_Mutation_p.P154L|MAGEC3_ENST00000443323.2_Missense_Mutation_p.P74L|MAGEC3_ENST00000483584.1_3'UTR|MAGEC3_ENST00000544766.1_Missense_Mutation_p.P154L	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	452										NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GAATCCTTGCCCAGGTATGCC	0.498																																																	0			X											69.0	64.0	66.0					X																	140984899		2203	4300	6503	140812565	SO:0001583	missense	139081			AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 2"""	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.1355C>T	X.37:g.140984899C>T	ENSP00000298296:p.Pro452Leu		140812565	Q3SYA7|Q5JZ43|Q9BZ80	Missense_Mutation	SNP	ENST00000298296.1	37	CCDS14676.1	.	.	.	.	.	.	.	.	.	.	c	0.540	-0.854203	0.02630	.	.	ENSG00000165509	ENST00000298296;ENST00000536088;ENST00000443323;ENST00000544766;ENST00000409007	T;T;T;T;T	0.03496	4.16;3.91;3.94;3.91;3.91	1.18	-0.485	0.12067	.	.	.	.	.	T	0.01661	0.0053	N	0.08118	0	0.09310	N	1	B;B	0.18741	0.03;0.014	B;B	0.20384	0.029;0.014	T	0.49263	-0.8958	9	0.10902	T	0.67	.	3.3373	0.07106	0.0:0.4879:0.0:0.5121	.	452;154	Q8TD91;Q3SYA7	MAGC3_HUMAN;.	L	452;154;74;154;154	ENSP00000298296:P452L;ENSP00000441107:P154L;ENSP00000438254:P74L;ENSP00000440444:P154L;ENSP00000386566:P154L	ENSP00000298296:P452L	P	+	2	0	MAGEC3	140812565	0.000000	0.05858	0.000000	0.03702	0.545000	0.35147	-1.265000	0.02844	-0.234000	0.09782	0.179000	0.17066	CCC		0.498	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058606.1	NM_138702	
MAGEC3	139081	hgsc.bcm.edu	37	X	140984944	140984944	+	Missense_Mutation	SNP	T	T	A			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chrX:140984944T>A	ENST00000298296.1	+	7	1400	c.1400T>A	c.(1399-1401)cTt>cAt	p.L467H	MAGEC3_ENST00000409007.1_Missense_Mutation_p.L169H|MAGEC3_ENST00000536088.1_Missense_Mutation_p.L169H|MAGEC3_ENST00000443323.2_Missense_Mutation_p.L89H|MAGEC3_ENST00000544766.1_Missense_Mutation_p.L169H	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	467	MAGE 2. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GTGCAGTTTCTTCTCCTCAAA	0.458																																																	0			X											96.0	89.0	91.0					X																	140984944		2203	4300	6503	140812610	SO:0001583	missense	139081			AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 2"""	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.1400T>A	X.37:g.140984944T>A	ENSP00000298296:p.Leu467His		140812610	Q3SYA7|Q5JZ43|Q9BZ80	Missense_Mutation	SNP	ENST00000298296.1	37	CCDS14676.1	.	.	.	.	.	.	.	.	.	.	t	11.40	1.628972	0.28978	.	.	ENSG00000165509	ENST00000298296;ENST00000536088;ENST00000443323;ENST00000544766;ENST00000409007	T;T;T;T;T	0.07114	3.22;3.22;3.22;3.22;3.22	1.18	1.18	0.20946	.	.	.	.	.	T	0.32675	0.0837	H	0.94582	3.555	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.08229	-1.0732	9	0.87932	D	0	.	4.1545	0.10254	0.0:0.0:0.0:1.0	.	467;169	Q8TD91;Q3SYA7	MAGC3_HUMAN;.	H	467;169;89;169;169	ENSP00000298296:L467H;ENSP00000441107:L169H;ENSP00000438254:L89H;ENSP00000440444:L169H;ENSP00000386566:L169H	ENSP00000298296:L467H	L	+	2	0	MAGEC3	140812610	0.001000	0.12720	0.001000	0.08648	0.115000	0.19883	0.749000	0.26320	0.706000	0.31912	0.150000	0.16122	CTT		0.458	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058606.1	NM_138702	
AFF2	2334	hgsc.bcm.edu	37	X	147744068	147744068	+	Missense_Mutation	SNP	C	C	A			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chrX:147744068C>A	ENST00000370460.2	+	3	1299	c.820C>A	c.(820-822)Ctt>Att	p.L274I	AFF2_ENST00000370457.5_Missense_Mutation_p.L270I|AFF2_ENST00000342251.3_Missense_Mutation_p.L270I|AFF2_ENST00000370458.1_Missense_Mutation_p.L270I	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	274					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CCCACCAGGGCTTTACTGCAA	0.532																																																	0			X											91.0	92.0	91.0					X																	147744068		2203	4300	6503	147551760	SO:0001583	missense	2334			U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.820C>A	X.37:g.147744068C>A	ENSP00000359489:p.Leu274Ile		147551760	A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	C	10.99	1.507756	0.27036	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000370458	T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13	5.71	3.92	0.45320	.	0.131543	0.51477	N	0.000082	T	0.73171	0.3553	L	0.46670	1.46	0.80722	D	1	B;B;B;B;B;B	0.20459	0.001;0.001;0.001;0.005;0.001;0.045	B;B;B;B;B;B	0.32864	0.005;0.005;0.005;0.01;0.009;0.154	T	0.67248	-0.5718	10	0.52906	T	0.07	.	10.2124	0.43150	0.2725:0.5988:0.1287:0.0	.	274;270;270;270;274;270	P51816-6;P51816-3;P51816-2;P51816-5;P51816;P51816-4	.;.;.;.;AFF2_HUMAN;.	I	274;270;270;270	ENSP00000359489:L274I;ENSP00000359486:L270I;ENSP00000345459:L270I;ENSP00000359487:L270I	ENSP00000345459:L270I	L	+	1	0	AFF2	147551760	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.477000	0.53151	0.543000	0.28864	0.600000	0.82982	CTT		0.532	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025	
CRIPAK	285464	hgsc.bcm.edu	37	4	1388508	1388508	+	Missense_Mutation	SNP	T	T	C	rs55703801		TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr4:1388508T>C	ENST00000324803.4	+	1	3169	c.209T>C	c.(208-210)gTc>gCc	p.V70A		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	70					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)			CACACACGTGTCCATGTGGAG	0.632																																																	0			4											283.0	245.0	257.0					4																	1388508		2203	4300	6503	1378508	SO:0001583	missense	285464			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.209T>C	4.37:g.1388508T>C	ENSP00000323978:p.Val70Ala		1378508	Q8NB03	Missense_Mutation	SNP	ENST00000324803.4	37	CCDS3349.1	.	.	.	.	.	.	.	.	.	.	t	8.717	0.913380	0.17907	.	.	ENSG00000179979	ENST00000324803;ENST00000382944	T	0.24350	1.86	1.09	-2.19	0.07015	.	.	.	.	.	T	0.08714	0.0216	N	0.08118	0	0.09310	N	1	B	0.12630	0.006	B	0.06405	0.002	T	0.25257	-1.0137	9	0.16896	T	0.51	.	0.4342	0.00476	0.19:0.3247:0.1898:0.2955	rs55703801	70	Q8N1N5	CRPAK_HUMAN	A	70;63	ENSP00000323978:V70A	ENSP00000323978:V70A	V	+	2	0	CRIPAK	1378508	0.002000	0.14202	0.000000	0.03702	0.003000	0.03518	-1.991000	0.01478	-2.302000	0.00657	-1.823000	0.00598	GTC		0.632	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918	
CRIPAK	285464	hgsc.bcm.edu	37	4	1388817	1388817	+	Missense_Mutation	SNP	C	C	G	rs200606324	byFrequency	TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr4:1388817C>G	ENST00000324803.4	+	1	3478	c.518C>G	c.(517-519)cCa>cGa	p.P173R		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	173					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)			CACACGTGCCCATGTGGAGTG	0.677													N|||	940	0.1877	0.3328	0.1398	5008	,	,		18475	0.0992		0.0378	False		,,,				2504	0.271																0			4											192.0	130.0	151.0					4																	1388817		2194	4201	6395	1378817	SO:0001583	missense	285464			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.518C>G	4.37:g.1388817C>G	ENSP00000323978:p.Pro173Arg		1378817	Q8NB03	Missense_Mutation	SNP	ENST00000324803.4	37	CCDS3349.1	.	.	.	.	.	.	.	.	.	.	c	1.909	-0.451230	0.04572	.	.	ENSG00000179979	ENST00000324803	T	0.19250	2.16	1.25	0.276	0.15663	Post-SET domain (1);	.	.	.	.	T	0.08358	0.0208	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40079	-0.9582	9	0.17369	T	0.5	.	4.4738	0.11726	0.0:0.5796:0.2425:0.1779	.	173	Q8N1N5	CRPAK_HUMAN	R	173	ENSP00000323978:P173R	ENSP00000323978:P173R	P	+	2	0	CRIPAK	1378817	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.368000	0.07543	-0.338000	0.08413	-1.976000	0.00459	CCA		0.677	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918	
SHROOM3	57619	hgsc.bcm.edu	37	4	77700013	77700013	+	Missense_Mutation	SNP	C	C	T	rs186156427		TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr4:77700013C>T	ENST00000296043.6	+	11	6627	c.5674C>T	c.(5674-5676)Cgg>Tgg	p.R1892W	RP11-359D14.3_ENST00000449007.1_RNA	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1892	ASD2. {ECO:0000255|PROSITE- ProRule:PRU00638}.				actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			TGAGGATGCCCGGGAGCTGAA	0.537													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18188	0.0		0.0	False		,,,				2504	0.0																0			4						C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	66.0	62.0	63.0		5674	4.2	1.0	4		63	0,8600		0,0,4300	no	missense	SHROOM3	NM_020859.3	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	1892/1997	77700013	1,13005	2203	4300	6503	77919037	SO:0001583	missense	57619			AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.5674C>T	4.37:g.77700013C>T	ENSP00000296043:p.Arg1892Trp		77919037	Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	ENST00000296043.6	37	CCDS3579.2	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	16.15	3.041037	0.55003	2.27E-4	0.0	ENSG00000138771	ENST00000296043	T	0.33216	1.42	5.01	4.16	0.48862	Apx/shroom, ASD2 (2);	0.105837	0.42548	D	0.000691	T	0.46483	0.1395	L	0.56769	1.78	0.45439	D	0.998418	D	0.89917	1.0	D	0.85130	0.997	T	0.43925	-0.9361	10	0.66056	D	0.02	-14.5715	6.5431	0.22390	0.0:0.6938:0.1543:0.1519	.	1892	Q8TF72	SHRM3_HUMAN	W	1892	ENSP00000296043:R1892W	ENSP00000296043:R1892W	R	+	1	2	SHROOM3	77919037	0.887000	0.30362	0.998000	0.56505	0.589000	0.36550	1.653000	0.37323	1.332000	0.45431	0.313000	0.20887	CGG		0.537	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859	
PRDM8	56978	hgsc.bcm.edu	37	4	81123603	81123603	+	Silent	SNP	G	G	T	rs6831357	byFrequency	TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr4:81123603G>T	ENST00000504452.1	+	8	1826	c.987G>T	c.(985-987)ctG>ctT	p.L329L	PRDM8_ENST00000339711.4_Silent_p.L329L|PRDM8_ENST00000415738.2_Silent_p.L329L			Q9NQV8	PRDM8_HUMAN	PR domain containing 8	329	Gly-rich.				corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						GCGCTGGTCTGGTAGGGGGCC	0.706													G|||	309	0.0617013	0.2216	0.0231	5008	,	,		9086	0.0		0.0	False		,,,				2504	0.0																0			4						G	,	274,1802		1,272,765	2.0	2.0	2.0		987,987	4.0	0.9	4	dbSNP_116	2	7,5213		0,7,2603	no	coding-synonymous,coding-synonymous	PRDM8	NM_001099403.1,NM_020226.3	,	1,279,3368	TT,TG,GG		0.1341,13.1985,3.8514	,	329/690,329/690	81123603	281,7015	1038	2610	3648	81342627	SO:0001819	synonymous_variant	56978			AF275815	CCDS43243.1	4q21	2008-08-21				ENSG00000152784			13993	protein-coding gene	gene with protein product							Standard	NM_020226		Approved		uc003hmc.4	Q9NQV8		ENST00000504452.1:c.987G>T	4.37:g.81123603G>T			81342627	A8K7X2|Q6IQ36	Silent	SNP	ENST00000504452.1	37	CCDS43243.1																																																																																				0.706	PRDM8-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362793.1		
ABCE1	6059	hgsc.bcm.edu	37	4	146030352	146030352	+	Missense_Mutation	SNP	C	C	G			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr4:146030352C>G	ENST00000296577.4	+	5	871	c.356C>G	c.(355-357)gCt>gGt	p.A119G	OTUD4_ENST00000455611.2_5'Flank|ABCE1_ENST00000502803.1_Intron	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E (OABP), member 1	119	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				negative regulation of catalytic activity (GO:0043086)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|iron-sulfur cluster binding (GO:0051536)|ribonuclease inhibitor activity (GO:0008428)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					AAGTCAACTGCTTTAAAAATT	0.328																																																	0			4											96.0	98.0	97.0					4																	146030352		2203	4300	6503	146249802	SO:0001583	missense	6059			X74987	CCDS34071.1	4q31	2012-03-14			ENSG00000164163	ENSG00000164163		"""ATP binding cassette transporters / subfamily E"""	69	protein-coding gene	gene with protein product		601213		RNASEL1, RNASELI, RNS4I		7539425	Standard	NM_002940		Approved	RLI, OABP	uc003ijy.3	P61221	OTTHUMG00000161478	ENST00000296577.4:c.356C>G	4.37:g.146030352C>G	ENSP00000296577:p.Ala119Gly		146249802	O88793|Q13181|Q13864|Q6NR76|Q96AL0|Q96B10|Q99K66	Missense_Mutation	SNP	ENST00000296577.4	37	CCDS34071.1	.	.	.	.	.	.	.	.	.	.	C	34	5.336655	0.95758	.	.	ENSG00000164163	ENST00000296577;ENST00000502586	D;D	0.93811	-3.29;-3.29	5.86	5.86	0.93980	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.97961	0.9329	H	0.95328	3.655	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	D	0.98227	1.0481	10	0.87932	D	0	-27.1952	20.5632	0.99335	0.0:1.0:0.0:0.0	.	119	P61221	ABCE1_HUMAN	G	119	ENSP00000296577:A119G;ENSP00000421250:A119G	ENSP00000296577:A119G	A	+	2	0	ABCE1	146249802	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.616000	0.83018	2.937000	0.99478	0.650000	0.86243	GCT		0.328	ABCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365104.1	NM_002940	
FBXW7	55294	hgsc.bcm.edu	37	4	153245453	153245453	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr4:153245453G>A	ENST00000281708.4	-	11	2967	c.1738C>T	c.(1738-1740)Cac>Tac	p.H580Y	FBXW7_ENST00000603548.1_Missense_Mutation_p.H580Y|FBXW7_ENST00000296555.5_Missense_Mutation_p.H462Y|FBXW7_ENST00000263981.5_Missense_Mutation_p.H500Y|FBXW7_ENST00000393956.3_Missense_Mutation_p.H404Y|FBXW7_ENST00000603841.1_Missense_Mutation_p.H580Y	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	580					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.G579_Q581>E(1)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				AACGACTGGTGCCCTGTTAAC	0.418			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																			Rec	yes		4	4q31.3	55294	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""		"""E, L"""	2	Unknown(1)|Complex - deletion inframe(1)	large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	4											152.0	125.0	134.0					4																	153245453		2203	4300	6503	153464903	SO:0001583	missense	55294			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1738C>T	4.37:g.153245453G>A	ENSP00000281708:p.His580Tyr		153464903	B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	G	16.98	3.270761	0.59540	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.81415	-1.49;-1.49;-1.49;-1.49	5.7	5.7	0.88788	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.93494	0.7924	H	0.95917	3.74	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	0.94595	0.7791	10	0.59425	D	0.04	-16.0333	19.838	0.96666	0.0:0.0:1.0:0.0	.	404;580;462;500	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	Y	580;462;500;404	ENSP00000281708:H580Y;ENSP00000296555:H462Y;ENSP00000263981:H500Y;ENSP00000377528:H404Y	ENSP00000263981:H500Y	H	-	1	0	FBXW7	153464903	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.869000	0.99810	2.692000	0.91855	0.650000	0.86243	CAC		0.418	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1		
FBXW7	55294	hgsc.bcm.edu	37	4	153249451	153249451	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr4:153249451G>A	ENST00000281708.4	-	9	2556	c.1327C>T	c.(1327-1329)Ctc>Ttc	p.L443F	FBXW7_ENST00000603548.1_Missense_Mutation_p.L443F|FBXW7_ENST00000296555.5_Missense_Mutation_p.L325F|FBXW7_ENST00000263981.5_Missense_Mutation_p.L363F|FBXW7_ENST00000393956.3_Missense_Mutation_p.L267F|FBXW7_ENST00000603841.1_Missense_Mutation_p.L443F	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	443					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				CACACTTTGAGTGTCCGATCT	0.418			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																			Rec	yes		4	4q31.3	55294	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""		"""E, L"""	1	Unknown(1)	haematopoietic_and_lymphoid_tissue(1)	4											306.0	259.0	275.0					4																	153249451		2203	4300	6503	153468901	SO:0001583	missense	55294			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1327C>T	4.37:g.153249451G>A	ENSP00000281708:p.Leu443Phe		153468901	B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.109998	0.77210	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.62498	0.02;0.02;0.02;0.02	6.05	6.05	0.98169	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.73297	0.3569	L	0.52823	1.66	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.995;0.997;0.992;0.992	T	0.74386	-0.3682	10	0.72032	D	0.01	-10.502	10.5379	0.45016	0.1463:0.0:0.8537:0.0	.	267;443;325;363	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	F	443;325;363;267	ENSP00000281708:L443F;ENSP00000296555:L325F;ENSP00000263981:L363F;ENSP00000377528:L267F	ENSP00000263981:L363F	L	-	1	0	FBXW7	153468901	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.795000	0.69074	2.878000	0.98634	0.650000	0.86243	CTC		0.418	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1		
FBXW7	55294	hgsc.bcm.edu	37	4	153332917	153332917	+	Silent	SNP	T	T	C			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr4:153332917T>C	ENST00000281708.4	-	2	1268	c.39A>G	c.(37-39)cgA>cgG	p.R13R	FBXW7_ENST00000603548.1_Silent_p.R13R|FBXW7_ENST00000604872.1_Silent_p.R13R|FBXW7_ENST00000603841.1_Silent_p.R13R	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	13					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)			NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				CTCCAGTTCGTCGTCTTTTGC	0.483			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																			Rec	yes		4	4q31.3	55294	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""		"""E, L"""	0			4											79.0	69.0	73.0					4																	153332917		2203	4300	6503	153552367	SO:0001819	synonymous_variant	55294			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.39A>G	4.37:g.153332917T>C			153552367	B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Silent	SNP	ENST00000281708.4	37	CCDS3777.1																																																																																				0.483	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1		
MTNR1A	4543	hgsc.bcm.edu	37	4	187476414	187476414	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr4:187476414A>G	ENST00000307161.5	-	1	307	c.106T>C	c.(106-108)Ttc>Ctc	p.F36L	RP11-215A19.2_ENST00000509111.1_Silent_p.S17S	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN	melatonin receptor 1A	36					circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|mating behavior (GO:0007617)|positive regulation of cGMP biosynthetic process (GO:0030828)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	hormone binding (GO:0042562)|melatonin receptor activity (GO:0008502)|organic cyclic compound binding (GO:0097159)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	ACGATGGTGAAGATGAGGACG	0.706																																																	0			4											26.0	19.0	22.0					4																	187476414		2187	4276	6463	187713408	SO:0001583	missense	4543				CCDS3848.1	4q35	2012-08-08				ENSG00000168412		"""GPCR / Class A : Melatonin receptors"""	7463	protein-coding gene	gene with protein product		600665				7558006	Standard	NM_005958		Approved	MEL-1A-R	uc003izd.1	P48039		ENST00000307161.5:c.106T>C	4.37:g.187476414A>G	ENSP00000302811:p.Phe36Leu		187713408	A0AVC5|B0M0L2	Missense_Mutation	SNP	ENST00000307161.5	37	CCDS3848.1	.	.	.	.	.	.	.	.	.	.	a	17.42	3.384043	0.61845	.	.	ENSG00000168412	ENST00000307161	T	0.33865	1.39	4.66	0.192	0.15134	.	0.288270	0.32273	U	0.006327	T	0.31104	0.0786	M	0.68952	2.095	0.54753	D	0.999982	B	0.06786	0.001	B	0.06405	0.002	T	0.20140	-1.0284	10	0.13108	T	0.6	-10.2532	11.6768	0.51434	0.5668:0.4332:0.0:0.0	.	36	P48039	MTR1A_HUMAN	L	36	ENSP00000302811:F36L	ENSP00000302811:F36L	F	-	1	0	MTNR1A	187713408	0.999000	0.42202	1.000000	0.80357	0.966000	0.64601	0.875000	0.28079	0.121000	0.18284	0.454000	0.30748	TTC		0.706	MTNR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360189.1		
PTRHD1	391356	hgsc.bcm.edu	37	2	25016056	25016056	+	Missense_Mutation	SNP	T	T	C	rs374244884|rs553276736	byFrequency	TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr2:25016056T>C	ENST00000328379.5	-	1	195	c.191A>G	c.(190-192)gAc>gGc	p.D64G	CENPO_ENST00000473706.1_5'UTR|PTRHD1_ENST00000487316.1_5'Flank|CENPO_ENST00000260662.1_5'Flank|CENPO_ENST00000380834.2_5'UTR	NM_001013663.1	NP_001013685.1	Q6GMV3	PTRD1_HUMAN	peptidyl-tRNA hydrolase domain containing 1	64						extracellular vesicular exosome (GO:0070062)	aminoacyl-tRNA hydrolase activity (GO:0004045)			autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|skin(1)	6						GTGCGGGTGGTCGCGGTGAGT	0.657													T|||	3	0.000599042	0.0023	0.0	5008	,	,		13746	0.0		0.0	False		,,,				2504	0.0																0			2						T	GLY/ASP	1,4403		0,1,2201	37.0	41.0	39.0		191	4.7	1.0	2		39	2,8598		0,2,4298	no	missense	PTRHD1	NM_001013663.1	94	0,3,6499	CC,CT,TT		0.0233,0.0227,0.0231	benign	64/141	25016056	3,13001	2202	4300	6502	24869560	SO:0001583	missense	391356				CCDS33156.1	2p23.3	2011-05-09	2011-05-09	2011-05-09	ENSG00000184924	ENSG00000184924			33782	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 79"""	C2orf79		12477932	Standard	NM_001013663		Approved	LOC391356	uc002rfm.3	Q6GMV3	OTTHUMG00000151978	ENST00000328379.5:c.191A>G	2.37:g.25016056T>C	ENSP00000330389:p.Asp64Gly		24869560		Missense_Mutation	SNP	ENST00000328379.5	37	CCDS33156.1	.	.	.	.	.	.	.	.	.	.	T	15.99	2.994805	0.54041	2.27E-4	2.33E-4	ENSG00000184924	ENST00000328379	T	0.10382	2.88	5.91	4.69	0.59074	Peptidyl-tRNA hydrolase II domain (2);	0.356851	0.31612	N	0.007359	T	0.12220	0.0297	L	0.55743	1.74	0.80722	D	1	B	0.11235	0.004	B	0.09377	0.004	T	0.02991	-1.1085	10	0.46703	T	0.11	.	11.4704	0.50266	0.0:0.0:0.2309:0.769	.	64	Q6GMV3	PTRD1_HUMAN	G	64	ENSP00000330389:D64G	ENSP00000330389:D64G	D	-	2	0	PTRHD1	24869560	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	0.931000	0.28871	2.261000	0.74972	0.533000	0.62120	GAC		0.657	PTRHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324626.3	NM_001013663	
BRE	9577	hgsc.bcm.edu	37	2	28268640	28268640	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr2:28268640A>G	ENST00000342045.2	+	7	685	c.544A>G	c.(544-546)Agc>Ggc	p.S182G	BRE_ENST00000361704.2_Missense_Mutation_p.S182G|BRE_ENST00000379632.2_Missense_Mutation_p.S182G|BRE_ENST00000344773.2_Missense_Mutation_p.S182G|BRE_ENST00000379624.1_Missense_Mutation_p.S182G	NM_199194.2	NP_954664.1			brain and reproductive organ-expressed (TNFRSF1A modulator)											NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					CGTAGATTTCAGCAATATCCC	0.279																																																	0			2											41.0	42.0	42.0					2																	28268640		2202	4299	6501	28122144	SO:0001583	missense	9577			AF015767	CCDS1763.1, CCDS1764.1, CCDS1765.1	2p23	2008-02-05			ENSG00000158019	ENSG00000158019			1106	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 4"""	610497				9737713, 7826398	Standard	NM_004899		Approved	BRCC45, BRCC4	uc002rls.3	Q9NXR7	OTTHUMG00000097831	ENST00000342045.2:c.544A>G	2.37:g.28268640A>G	ENSP00000339371:p.Ser182Gly		28122144		Missense_Mutation	SNP	ENST00000342045.2	37	CCDS1763.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.156967	0.78114	.	.	ENSG00000158019	ENST00000344773;ENST00000379624;ENST00000342045;ENST00000379632;ENST00000361704;ENST00000379629;ENST00000379623	.	.	.	5.42	5.42	0.78866	.	0.040403	0.85682	D	0.000000	T	0.67268	0.2875	L	0.58101	1.795	0.54753	D	0.999981	P;D;D;B	0.59767	0.75;0.986;0.982;0.341	B;P;P;B	0.55923	0.4;0.787;0.681;0.201	T	0.70557	-0.4839	9	0.62326	D	0.03	-5.9715	14.4558	0.67416	1.0:0.0:0.0:0.0	.	182;182;182;182	Q9NXR7-1;Q9NXR7;Q9NXR7-4;Q9NXR7-3	.;BRE_HUMAN;.;.	G	182;182;182;182;182;182;84	.	ENSP00000339371:S182G	S	+	1	0	BRE	28122144	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.142000	0.77339	2.058000	0.61347	0.533000	0.62120	AGC		0.279	BRE-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215114.1		
BCL11A	53335	hgsc.bcm.edu	37	2	60689480	60689480	+	Silent	SNP	T	T	C			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr2:60689480T>C	ENST00000335712.6	-	4	794	c.567A>G	c.(565-567)gcA>gcG	p.A189A	BCL11A_ENST00000356842.4_Silent_p.A189A|BCL11A_ENST00000538214.1_Silent_p.A155A|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000359629.5_Silent_p.A189A|BCL11A_ENST00000537768.1_Silent_p.A37A|BCL11A_ENST00000358510.4_Silent_p.A155A	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	189	Required for nuclear body formation and for SUMO1 recruitment. {ECO:0000250}.				B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			GAGTGTTCTGTGCGTGTTGCA	0.473			T	IGH@	B-CLL																																			Dom	yes		2	2p13	53335	B-cell CLL/lymphoma 11A		L	0			2											95.0	95.0	95.0					2																	60689480		2203	4300	6503	60542984	SO:0001819	synonymous_variant	53335			AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"""Zinc fingers, C2H2-type"""	13221	protein-coding gene	gene with protein product		606557	"""ecotropic viral integration site 9"""	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.567A>G	2.37:g.60689480T>C			60542984	D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Silent	SNP	ENST00000335712.6	37	CCDS1862.1																																																																																				0.473	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	NM_022893	
DYSF	8291	hgsc.bcm.edu	37	2	71766338	71766338	+	Silent	SNP	G	G	A			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr2:71766338G>A	ENST00000258104.3	+	16	1726	c.1449G>A	c.(1447-1449)tcG>tcA	p.S483S	DYSF_ENST00000394120.2_Silent_p.S484S|DYSF_ENST00000409651.1_Silent_p.S515S|DYSF_ENST00000410020.3_Silent_p.S515S|DYSF_ENST00000410041.1_Silent_p.S515S|DYSF_ENST00000409582.3_Silent_p.S514S|DYSF_ENST00000413539.2_Silent_p.S514S|DYSF_ENST00000429174.2_Silent_p.S483S|DYSF_ENST00000409366.1_Silent_p.S484S|DYSF_ENST00000409762.1_Silent_p.S514S|DYSF_ENST00000409744.1_Silent_p.S484S	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	483					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TGAGTATGTCGAAAATCTCTG	0.552																																																	0			2											166.0	139.0	148.0					2																	71766338		2203	4300	6503	71619846	SO:0001819	synonymous_variant	8291			AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.1449G>A	2.37:g.71766338G>A			71619846	A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Silent	SNP	ENST00000258104.3	37	CCDS1918.1																																																																																				0.552	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494	
ATOH8	84913	hgsc.bcm.edu	37	2	85991208	85991208	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr2:85991208T>C	ENST00000306279.3	+	2	1159	c.863T>C	c.(862-864)cTt>cCt	p.L288P	ATOH8_ENST00000463422.1_3'UTR	NM_032827.6	NP_116216.2	Q96SQ7	ATOH8_HUMAN	atonal homolog 8 (Drosophila)	288					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(1)|large_intestine(1)|lung(2)	5						CTGGCTGACCTTGACTACAGT	0.612																																																	0			2											70.0	56.0	61.0					2																	85991208		2203	4300	6503	85844719	SO:0001583	missense	84913			AK074681	CCDS1985.1	2p11.2	2013-05-21			ENSG00000168874	ENSG00000168874		"""Basic helix-loop-helix proteins"""	24126	protein-coding gene	gene with protein product	"""basic helix loop helix transcription factor 6"""					12419857	Standard	NM_032827		Approved	HATH6, FLJ14708, bHLHa21	uc002sqn.3	Q96SQ7	OTTHUMG00000130178	ENST00000306279.3:c.863T>C	2.37:g.85991208T>C	ENSP00000304676:p.Leu288Pro		85844719	Q504S2|Q659B0	Missense_Mutation	SNP	ENST00000306279.3	37	CCDS1985.1	.	.	.	.	.	.	.	.	.	.	t	15.66	2.898588	0.52227	.	.	ENSG00000168874	ENST00000306279	D	0.88818	-2.43	5.02	5.02	0.67125	Helix-loop-helix DNA-binding (2);	0.000000	0.64402	D	0.000003	D	0.82838	0.5124	L	0.36672	1.1	0.80722	D	1	P;B	0.37731	0.607;0.446	B;B	0.34180	0.177;0.128	T	0.82082	-0.0633	10	0.31617	T	0.26	-1.9355	14.2471	0.65995	0.0:0.0:0.0:1.0	.	288;288	Q96SQ7;Q96SQ7-2	ATOH8_HUMAN;.	P	288	ENSP00000304676:L288P	ENSP00000304676:L288P	L	+	2	0	ATOH8	85844719	1.000000	0.71417	0.926000	0.36857	0.873000	0.50193	5.669000	0.68081	2.028000	0.59812	0.529000	0.55759	CTT		0.612	ATOH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252496.1	NM_032827	
TEX37	200523	hgsc.bcm.edu	37	2	88825975	88825975	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr2:88825975C>T	ENST00000303254.3	+	3	222	c.80C>T	c.(79-81)cCc>cTc	p.P27L		NM_152670.2	NP_689883.1	Q96LM6	TEX37_HUMAN	testis expressed 37	27						nucleus (GO:0005634)											GACTATCAGCCCTACAGGAAG	0.483																																																	0			2											125.0	104.0	111.0					2																	88825975		2203	4300	6503	88607090	SO:0001583	missense	200523			AK058098	CCDS2003.1	2p11.2	2014-01-28	2012-09-14	2012-09-14	ENSG00000172073	ENSG00000172073			26341	protein-coding gene	gene with protein product	"""Testis-Specific Conserved gene 21kDa"""		"""chromosome 2 open reading frame 51"""	C2orf51		17091336	Standard	NM_152670		Approved	FLJ25369, TSC21	uc002stb.2	Q96LM6	OTTHUMG00000130332	ENST00000303254.3:c.80C>T	2.37:g.88825975C>T	ENSP00000307142:p.Pro27Leu		88607090		Missense_Mutation	SNP	ENST00000303254.3	37	CCDS2003.1	.	.	.	.	.	.	.	.	.	.	C	6.790	0.514817	0.12944	.	.	ENSG00000172073	ENST00000303254	T	0.59638	0.25	3.92	3.03	0.35002	.	0.180160	0.27349	N	0.019766	T	0.60157	0.2247	L	0.34521	1.04	0.18873	N	0.999985	D	0.67145	0.996	D	0.64877	0.93	T	0.49588	-0.8924	10	0.62326	D	0.03	-13.6596	8.9441	0.35747	0.2216:0.7784:0.0:0.0	.	27	Q96LM6	TSC21_HUMAN	L	27	ENSP00000307142:P27L	ENSP00000307142:P27L	P	+	2	0	C2orf51	88607090	0.002000	0.14202	0.042000	0.18584	0.037000	0.13140	0.075000	0.14686	1.199000	0.43173	0.462000	0.41574	CCC		0.483	TEX37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252682.1	NM_152670	
SH3RF3	344558	hgsc.bcm.edu	37	2	110015096	110015096	+	Silent	SNP	C	C	T	rs537361444		TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr2:110015096C>T	ENST00000309415.6	+	4	996	c.996C>T	c.(994-996)gcC>gcT	p.A332A		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	332							zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						CATGCCCAGCCGCTGCATCCA	0.602																																																	0			2											29.0	31.0	30.0					2																	110015096		2202	4300	6502	109381528	SO:0001819	synonymous_variant	344558			AK074131	CCDS74557.1	2q13	2013-01-11	2008-05-14	2008-05-14	ENSG00000172985	ENSG00000172985		"""RING-type (C3HC4) zinc fingers"""	24699	protein-coding gene	gene with protein product			"""SH3 multiple domains 4"""	SH3MD4		16374509	Standard	XM_006712493		Approved	FLJ00204, POSH2	uc010ywt.1	Q8TEJ3	OTTHUMG00000153439	ENST00000309415.6:c.996C>T	2.37:g.110015096C>T			109381528	A0SDZ7|A8MPR1|Q8NDU1	Silent	SNP	ENST00000309415.6	37																																																																																					0.602	SH3RF3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001099289	
BIN1	274	hgsc.bcm.edu	37	2	127816682	127816682	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr2:127816682A>G	ENST00000316724.5	-	11	1318	c.907T>C	c.(907-909)Tcc>Ccc	p.S303P	BIN1_ENST00000357970.3_Missense_Mutation_p.S303P|BIN1_ENST00000409400.1_Missense_Mutation_p.S272P|BIN1_ENST00000393040.3_Missense_Mutation_p.S272P|BIN1_ENST00000352848.3_Missense_Mutation_p.S287P|BIN1_ENST00000393041.3_Missense_Mutation_p.S272P|BIN1_ENST00000346226.3_Missense_Mutation_p.S272P|BIN1_ENST00000259238.4_Missense_Mutation_p.S287P|BIN1_ENST00000348750.4_Missense_Mutation_p.S272P|BIN1_ENST00000376113.2_Missense_Mutation_p.S287P|BIN1_ENST00000466111.1_5'UTR|BIN1_ENST00000351659.3_Missense_Mutation_p.S303P	NM_139343.2	NP_647593.1	O00499	BIN1_HUMAN	bridging integrator 1	303					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|lipid tube assembly (GO:0060988)|muscle cell differentiation (GO:0042692)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of endocytosis (GO:0045807)|positive regulation of GTPase activity (GO:0043547)|regulation of cell cycle arrest (GO:0071156)|regulation of neuron differentiation (GO:0045664)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|axon initial segment (GO:0043194)|axon terminus (GO:0043679)|cerebellar mossy fiber (GO:0044300)|cytoplasm (GO:0005737)|I band (GO:0031674)|lipid tube (GO:0060987)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)|T-tubule (GO:0030315)|varicosity (GO:0043196)|Z disc (GO:0030018)	identical protein binding (GO:0042802)|tau protein binding (GO:0048156)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		GCGGCAGGGGAGCCATCTGGA	0.677																																																	0			2											21.0	27.0	25.0					2																	127816682		2201	4296	6497	127533152	SO:0001583	missense	274			U68485	CCDS2137.1, CCDS2138.1, CCDS2139.1, CCDS2140.1, CCDS2141.1, CCDS2142.1, CCDS2143.1, CCDS42743.1, CCDS42744.1, CCDS46403.1	2q14	2014-09-17			ENSG00000136717	ENSG00000136717			1052	protein-coding gene	gene with protein product	"""amphiphysin II"""	601248		AMPHL		8725406, 8782822, 17676042	Standard	NM_004305		Approved	SH3P9, AMPH2	uc002tns.2	O00499	OTTHUMG00000131465	ENST00000316724.5:c.907T>C	2.37:g.127816682A>G	ENSP00000316779:p.Ser303Pro		127533152	O00297|O00545|O43867|O60552|O60553|O60554|O60555|O75514|O75515|O75516|O75517|O75518|Q659B7|Q92944|Q99688	Missense_Mutation	SNP	ENST00000316724.5	37	CCDS2138.1	.	.	.	.	.	.	.	.	.	.	A	14.01	2.407352	0.42715	.	.	ENSG00000136717	ENST00000376113;ENST00000357970;ENST00000393040;ENST00000348750;ENST00000259238;ENST00000346226;ENST00000393041;ENST00000351659;ENST00000352848;ENST00000316724;ENST00000409400	T;T;T;T;T;T;T;T;T;T;T	0.67523	0.38;-0.27;1.04;0.41;1.04;1.04;0.4;0.33;0.33;1.04;0.33	4.95	4.95	0.65309	.	0.536199	0.20330	N	0.094454	T	0.61776	0.2374	N	0.16743	0.435	0.47476	D	0.999434	B;B;B;B;B;B;B;B;B;B;B;B;D	0.63046	0.009;0.0;0.001;0.001;0.001;0.004;0.001;0.005;0.001;0.044;0.001;0.002;0.992	B;B;B;B;B;B;B;B;B;B;B;B;P	0.60949	0.008;0.002;0.006;0.012;0.005;0.012;0.003;0.009;0.005;0.03;0.004;0.002;0.881	T	0.57883	-0.7734	10	0.24483	T	0.36	-31.5721	8.1649	0.31220	0.8214:0.0:0.0:0.1786	.	303;248;272;272;272;272;303;287;287;303;287;272;303	B7Z2Z2;B7Z6Y2;O00499-4;O00499-7;O00499-6;O00499-2;O00499-3;O00499-8;O00499-11;O00499-5;O00499-10;O00499-9;O00499	.;.;.;.;.;.;.;.;.;.;.;.;BIN1_HUMAN	P	287;303;272;272;287;272;272;303;287;303;272	ENSP00000365281:S287P;ENSP00000350654:S303P;ENSP00000376760:S272P;ENSP00000259237:S272P;ENSP00000259238:S287P;ENSP00000315411:S272P;ENSP00000376761:S272P;ENSP00000315388:S303P;ENSP00000315284:S287P;ENSP00000316779:S303P;ENSP00000386797:S272P	ENSP00000259238:S287P	S	-	1	0	BIN1	127533152	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.120000	0.41968	1.858000	0.53909	0.459000	0.35465	TCC		0.677	BIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254298.2	NM_139343	
WIPF1	7456	hgsc.bcm.edu	37	2	175436915	175436915	+	Silent	SNP	C	C	A			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr2:175436915C>A	ENST00000392547.2	-	5	717	c.618G>T	c.(616-618)gtG>gtT	p.V206V	AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000409415.3_Silent_p.V206V|WIPF1_ENST00000359761.3_Silent_p.V206V|WIPF1_ENST00000409891.1_Silent_p.V206V|WIPF1_ENST00000272746.5_Silent_p.V206V|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000467149.1_5'Flank|WIPF1_ENST00000392546.2_Silent_p.V206V	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	206					actin filament-based movement (GO:0030048)|actin polymerization or depolymerization (GO:0008154)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)|response to other organism (GO:0051707)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	actin binding (GO:0003779)|profilin binding (GO:0005522)			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						GGCCTCCGGGCACTGGTGGGG	0.642																																																	0			2											41.0	50.0	47.0					2																	175436915		2201	4291	6492	175145161	SO:0001819	synonymous_variant	7456			AF031588	CCDS2260.1	2q31.2	2014-09-17	2006-10-12	2006-10-12	ENSG00000115935	ENSG00000115935			12736	protein-coding gene	gene with protein product		602357	"""Wiskott-Aldrich syndrome protein interacting protein"""	WASPIP		9405671	Standard	NM_001077269		Approved	WIP	uc002uiz.3	O43516	OTTHUMG00000132334	ENST00000392547.2:c.618G>T	2.37:g.175436915C>A			175145161	B8ZZM1|D3DPE4|Q15220|Q53TA9|Q6MZU9|Q9BU37|Q9UNP1	Silent	SNP	ENST00000392547.2	37	CCDS2260.1																																																																																				0.642	WIPF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255453.1	NM_003387	
TTN	7273	hgsc.bcm.edu	37	2	179429588	179429588	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr2:179429588C>T	ENST00000591111.1	-	276	76572	c.76348G>A	c.(76348-76350)Gtg>Atg	p.V25450M	TTN_ENST00000342992.6_Missense_Mutation_p.V24523M|TTN_ENST00000589042.1_Missense_Mutation_p.V27091M|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V18218M|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V18026M|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V18151M|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	25450	Fibronectin type-III 85. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCCATTGCACAAGCATCTGA	0.388																																																	0			2											65.0	62.0	63.0					2																	179429588		1878	4116	5994	179137834	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.76348G>A	2.37:g.179429588C>T	ENSP00000465570:p.Val25450Met		179137834	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	11.12	1.544641	0.27563	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.59772	0.24;0.24;0.24;0.24	6.02	5.14	0.70334	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.76835	0.4043	M	0.81239	2.535	0.41908	D	0.990454	D;D;D;D	0.62365	0.991;0.991;0.991;0.983	D;D;D;D	0.64687	0.928;0.928;0.928;0.924	T	0.81568	-0.0873	9	0.87932	D	0	.	17.5501	0.87873	0.0:0.8766:0.1234:0.0	.	18026;18151;18218;25450	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	M	24523;18026;18218;18151;18024	ENSP00000343764:V24523M;ENSP00000434586:V18026M;ENSP00000340554:V18218M;ENSP00000352154:V18151M	ENSP00000340554:V18218M	V	-	1	0	TTN	179137834	1.000000	0.71417	0.707000	0.30419	0.951000	0.60555	1.989000	0.40707	1.529000	0.49120	0.650000	0.86243	GTG		0.388	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	hgsc.bcm.edu	37	2	179434584	179434584	+	Silent	SNP	A	A	G			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr2:179434584A>G	ENST00000591111.1	-	276	71576	c.71352T>C	c.(71350-71352)tcT>tcC	p.S23784S	TTN_ENST00000342992.6_Silent_p.S22857S|TTN_ENST00000589042.1_Silent_p.S25425S|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Silent_p.S16552S|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Silent_p.S16360S|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Silent_p.S16485S|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	23784	Fibronectin type-III 73. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTTGCTCCAAGAAAGGAATA	0.408																																																	0			2											154.0	141.0	145.0					2																	179434584		1857	4112	5969	179142830	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.71352T>C	2.37:g.179434584A>G			179142830	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37																																																																																					0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	hgsc.bcm.edu	37	2	179479018	179479018	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr2:179479018A>G	ENST00000591111.1	-	212	44407	c.44183T>C	c.(44182-44184)cTt>cCt	p.L14728P	TTN_ENST00000342992.6_Missense_Mutation_p.L13801P|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN_ENST00000589042.1_Missense_Mutation_p.L16369P|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L7496P|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L7304P|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L7429P			Q8WZ42	TITIN_HUMAN	titin	14728	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.		L -> V (in a lung adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCATGTTAGAAGACATGACTC	0.443																																																	0			2											99.0	92.0	94.0					2																	179479018		1990	4176	6166	179187263	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.44183T>C	2.37:g.179479018A>G	ENSP00000465570:p.Leu14728Pro		179187263	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	A	13.29	2.192736	0.38707	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58060	0.36;0.36;0.36;0.36	5.55	5.55	0.83447	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.55641	0.1933	L	0.52266	1.64	0.58432	D	0.99999	P;P;P;P	0.41188	0.741;0.741;0.741;0.741	P;P;P;P	0.47528	0.549;0.549;0.549;0.549	T	0.59984	-0.7351	9	0.87932	D	0	.	11.716	0.51653	0.8678:0.0:0.0:0.1322	.	7304;7429;7496;14728	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	P	13801;7304;7496;7429;7304	ENSP00000343764:L13801P;ENSP00000434586:L7304P;ENSP00000340554:L7496P;ENSP00000352154:L7429P	ENSP00000340554:L7496P	L	-	2	0	TTN	179187263	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.077000	0.71275	2.234000	0.73211	0.533000	0.62120	CTT		0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
CERKL	375298	hgsc.bcm.edu	37	2	182402917	182402917	+	Silent	SNP	T	T	C			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr2:182402917T>C	ENST00000339098.5	-	14	1670	c.1671A>G	c.(1669-1671)ccA>ccG	p.P557P	CERKL_ENST00000374970.2_Silent_p.P462P|CERKL_ENST00000410087.3_Silent_p.P531P|CERKL_ENST00000409440.3_Silent_p.P513P|CERKL_ENST00000374969.2_Silent_p.P418P			Q49MI3	CERKL_HUMAN	ceramide kinase-like	557					negative regulation of apoptotic process (GO:0043066)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CATGTTACTTTGGAATCATTT	0.318																																																	0			2											55.0	57.0	56.0					2																	182402917		2201	4294	6495	182111162	SO:0001819	synonymous_variant	375298			BC020465	CCDS33340.1, CCDS33341.1, CCDS42789.1, CCDS46466.1, CCDS54425.1	2q31.3	2005-01-04			ENSG00000188452	ENSG00000188452			21699	protein-coding gene	gene with protein product			"""retinitis pigmentosa 26 (autosomal recessive)"""	RP26		14681825	Standard	NR_027689		Approved		uc002uny.3	Q49MI3	OTTHUMG00000154315	ENST00000339098.5:c.1671A>G	2.37:g.182402917T>C			182111162	B2RPL2|B4DEY1|Q49MH9|Q49MI0|Q49MI1|Q49MI2|Q5DVJ2|Q5DVJ4|Q5DVJ5|Q6UZF6|Q6ZP59	Silent	SNP	ENST00000339098.5	37	CCDS42789.1																																																																																				0.318	CERKL-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334811.1		
EPHA4	2043	hgsc.bcm.edu	37	2	222347396	222347396	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr2:222347396G>A	ENST00000281821.2	-	5	1035	c.994C>T	c.(994-996)Ccc>Tcc	p.P332S	EPHA4_ENST00000392071.4_Missense_Mutation_p.P281S|EPHA4_ENST00000409854.1_Missense_Mutation_p.P332S|EPHA4_ENST00000409938.1_Missense_Mutation_p.P332S	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	332	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult walking behavior (GO:0007628)|cell adhesion (GO:0007155)|corticospinal tract morphogenesis (GO:0021957)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|glial cell migration (GO:0008347)|motor neuron axon guidance (GO:0008045)|negative regulation of axon regeneration (GO:0048681)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001108)|protein autophosphorylation (GO:0046777)|regulation of astrocyte differentiation (GO:0048710)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rap GTPase activity (GO:0032317)	axon (GO:0030424)|axon terminus (GO:0043679)|axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|DH domain binding (GO:0097161)|GPI-linked ephrin receptor activity (GO:0005004)|PH domain binding (GO:0042731)|protein kinase activity (GO:0004672)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		AAGTTCAGGGGAGCAGATGGT	0.443																																																	0			2											79.0	88.0	85.0					2																	222347396		2203	4300	6503	222055640	SO:0001583	missense	2043			L36645	CCDS2447.1	2q36.3	2013-02-11	2004-10-28		ENSG00000116106	ENSG00000116106	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3388	protein-coding gene	gene with protein product		602188	"""EphA4"""	TYRO1		9267020	Standard	NM_004438		Approved	Hek8	uc002vmq.3	P54764	OTTHUMG00000133142	ENST00000281821.2:c.994C>T	2.37:g.222347396G>A	ENSP00000281821:p.Pro332Ser		222055640	A8K2P1|B2R601|B7Z6Q8|Q2M380	Missense_Mutation	SNP	ENST00000281821.2	37	CCDS2447.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.405049	0.83230	.	.	ENSG00000116106	ENST00000281821;ENST00000409854;ENST00000409938;ENST00000392071;ENST00000443796	T;T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3;-1.3	5.91	5.91	0.95273	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.93413	0.7899	H	0.95780	3.72	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94480	0.7692	10	0.87932	D	0	.	20.2983	0.98569	0.0:0.0:1.0:0.0	.	332	P54764	EPHA4_HUMAN	S	332;332;332;281;36	ENSP00000281821:P332S;ENSP00000386276:P332S;ENSP00000386829:P332S;ENSP00000375923:P281S;ENSP00000395917:P36S	ENSP00000281821:P332S	P	-	1	0	EPHA4	222055640	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	7.876000	0.87215	2.802000	0.96397	0.655000	0.94253	CCC		0.443	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256836.3		
SP100	6672	hgsc.bcm.edu	37	2	231368941	231368941	+	Silent	SNP	A	A	G			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr2:231368941A>G	ENST00000264052.5	+	21	2161	c.1806A>G	c.(1804-1806)caA>caG	p.Q602Q	SP100_ENST00000340126.4_Silent_p.Q602Q|RN7SL834P_ENST00000461450.2_RNA|SP100_ENST00000409112.1_Silent_p.Q602Q	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	602	SAND. {ECO:0000255|PROSITE- ProRule:PRU00185}.				cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		ATTTTAAACAATCTGAACTTC	0.398																																																	0			2											139.0	146.0	144.0					2																	231368941		2203	4300	6503	231077185	SO:0001819	synonymous_variant	6672			AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"""Zinc fingers, PHD-type"""	11206	protein-coding gene	gene with protein product		604585	"""nuclear antigen Sp100"""			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000264052.5:c.1806A>G	2.37:g.231368941A>G			231077185	B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Silent	SNP	ENST00000264052.5	37	CCDS2477.1																																																																																				0.398	SP100-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256914.2	NM_003113	
UGT1A4	54657	hgsc.bcm.edu	37	2	234627587	234627587	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr2:234627587T>C	ENST00000373409.3	+	1	164	c.121T>C	c.(121-123)Tgg>Cgg	p.W41R	UGT1A1_ENST00000608381.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A10_ENST00000344644.5_Intron	NM_007120.2	NP_009051.1	P22310	UD14_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A4	41					cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	26		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)	Asenapine(DB06216)|Clozapine(DB00363)|Ezogabine(DB04953)|Lamotrigine(DB00555)|Midazolam(DB00683)|Paricalcitol(DB00910)|Tamoxifen(DB00675)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)	TGGCAGCCCCTGGCTCAGCAT	0.627																																					Melanoma(99;1011 1962 13201 26492)												0			2											52.0	51.0	51.0					2																	234627587		2203	4300	6503	234292326	SO:0001583	missense	54657			M84128	CCDS33405.1	2q37.1	2014-01-10	2005-07-20		ENSG00000244474	ENSG00000244474		"""UDP glucuronosyltransferases"""	12536	other	complex locus constituent		606429	"""UDP glycosyltransferase 1 family, polypeptide A4"""			9295054, 1339448	Standard	NM_007120		Approved	HUG-BR2, UGT1D	uc002vux.3	P22310	OTTHUMG00000059119	ENST00000373409.3:c.121T>C	2.37:g.234627587T>C	ENSP00000362508:p.Trp41Arg		234292326	B2R937|B8K288|Q5DT00	Missense_Mutation	SNP	ENST00000373409.3	37	CCDS33405.1	.	.	.	.	.	.	.	.	.	.	T	14.85	2.659380	0.47467	.	.	ENSG00000244474	ENST00000373409	T	0.64618	-0.11	4.16	4.16	0.48862	.	.	.	.	.	D	0.85457	0.5701	H	0.97611	4.04	0.52099	D	0.999943	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.89897	0.4041	9	0.66056	D	0.02	.	13.201	0.59767	0.0:0.0:0.0:1.0	.	41;41	B8K288;P22310	.;UD14_HUMAN	R	41	ENSP00000362508:W41R	ENSP00000362508:W41R	W	+	1	0	UGT1A4	234292326	1.000000	0.71417	1.000000	0.80357	0.094000	0.18550	7.912000	0.87465	1.506000	0.48736	0.402000	0.26972	TGG		0.627	UGT1A4-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130984.1	NM_007120	
PRR21	643905	hgsc.bcm.edu	37	2	240981487	240981487	+	Missense_Mutation	SNP	A	A	G	rs60617721	byFrequency	TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr2:240981487A>G	ENST00000408934.1	-	1	912	c.913T>C	c.(913-915)Tgc>Cgc	p.C305R		NM_001080835.1	NP_001074304.1	Q8WXC7	PRR21_HUMAN	proline rich 21	305	Pro-rich.									NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(5)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	29						GTGAAGAGGCATGGACGAAGG	0.632													a|||	2078	0.414936	0.4455	0.3775	5008	,	,		16158	0.5744		0.332	False		,,,				2504	0.3211																0			2											25.0	21.0	23.0					2																	240981487		1766	3570	5336	240630160	SO:0001583	missense	643905			AF453950	CCDS33417.1	2q37.3	2009-04-20			ENSG00000221961	ENSG00000221961			33866	protein-coding gene	gene with protein product							Standard	NM_001080835		Approved		uc010zod.2	Q8WXC7	OTTHUMG00000159174	ENST00000408934.1:c.913T>C	2.37:g.240981487A>G	ENSP00000386166:p.Cys305Arg		240630160		Missense_Mutation	SNP	ENST00000408934.1	37	CCDS33417.1	.	.	.	.	.	.	.	.	.	.	a	0	-2.707321	0.00096	.	.	ENSG00000221961	ENST00000408934;ENST00000486799	T;T	0.13420	2.59;2.59	0.623	-1.25	0.09405	.	.	.	.	.	T	0.04452	0.0122	N	0.08118	0	0.80722	P	0.0	B	0.19073	0.033	B	0.08055	0.003	T	0.43360	-0.9396	8	0.08381	T	0.77	.	2.6586	0.05019	0.2679:0.4862:0.0:0.2459	rs60617721;rs62184584	305	Q8WXC7	PRR21_HUMAN	R	305	ENSP00000386166:C305R;ENSP00000418240:C305R	ENSP00000386166:C305R	C	-	1	0	PRR21	240630160	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.193000	0.01244	-1.350000	0.02199	-1.198000	0.01671	TGC		0.632	PRR21-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001080835	
C2orf54	79919	hgsc.bcm.edu	37	2	241835379	241835379	+	Silent	SNP	G	G	A	rs12105122	byFrequency	TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr2:241835379G>A	ENST00000388934.4	-	1	194	c.36C>T	c.(34-36)gcC>gcT	p.A12A		NM_001085437.1	NP_001078906	Q08AI8	CB054_HUMAN	chromosome 2 open reading frame 54	12										haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		GCACCTGCACGGCCATGGCTG	0.697													G|||	2624	0.523962	0.7685	0.3487	5008	,	,		17050	0.4415		0.5159	False		,,,				2504	0.411																0			2						G		2920,1058		1120,680,189	5.0	6.0	6.0		36	-10.5	0.0	2	dbSNP_120	6	4133,4053		1141,1851,1101	no	coding-synonymous	C2orf54	NM_001085437.1		2261,2531,1290	AA,AG,GG		49.5114,26.5963,42.0174		12/448	241835379	7053,5111	1989	4093	6082	241484052	SO:0001819	synonymous_variant	79919			AK026324, AK056601	CCDS42839.1, CCDS42840.1, CCDS63187.1	2q37.3	2011-02-23			ENSG00000172478	ENSG00000172478			26216	protein-coding gene	gene with protein product							Standard	NM_001282921		Approved	FLJ22671	uc002wae.4	Q08AI8	OTTHUMG00000151906	ENST00000388934.4:c.36C>T	2.37:g.241835379G>A			241484052	B3KPP9|H7BXM3|Q08AI9|Q53QU5|Q9H622	Silent	SNP	ENST00000388934.4	37	CCDS42839.1																																																																																				0.697	C2orf54-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324353.1	NM_024861, NM_001085437	
NEU4	129807	hgsc.bcm.edu	37	2	242758326	242758326	+	Silent	SNP	G	G	A	rs2293761	byFrequency	TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr2:242758326G>A	ENST00000391969.2	+	5	2118	c.1407G>A	c.(1405-1407)aaG>aaA	p.K469K	NEU4_ENST00000407683.1_Silent_p.K469K|NEU4_ENST00000325935.6_Silent_p.K482K|NEU4_ENST00000404257.1_Silent_p.K481K|NEU4_ENST00000405370.1_Silent_p.K469K	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN	sialidase 4	469					ganglioside catabolic process (GO:0006689)|glycoprotein catabolic process (GO:0006516)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|organelle inner membrane (GO:0019866)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)|exo-alpha-sialidase activity (GO:0004308)			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		CCAGCCCCAAGCCGCCCAACC	0.657													G|||	2224	0.444089	0.4864	0.3458	5008	,	,		12711	0.4216		0.3847	False		,,,				2504	0.5409																0			2							,,,,	1448,1946		319,810,568	12.0	14.0	13.0		1446,1407,1407,1407,1443	3.7	0.0	2	dbSNP_100	13	2170,4686		383,1404,1641	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NEU4	NM_001167599.1,NM_001167600.1,NM_001167601.1,NM_001167602.1,NM_080741.2	,,,,	702,2214,2209	AA,AG,GG		31.6511,42.6635,35.2976	,,,,	482/498,469/485,469/485,469/485,481/497	242758326	3618,6632	1697	3428	5125	242406999	SO:0001819	synonymous_variant	129807			BC012899	CCDS2553.1, CCDS54441.1, CCDS54442.1	2q37.3	2008-02-05			ENSG00000204099	ENSG00000204099			21328	protein-coding gene	gene with protein product		608527					Standard	NM_001167600		Approved		uc010fzr.3	Q8WWR8	OTTHUMG00000133412	ENST00000391969.2:c.1407G>A	2.37:g.242758326G>A			242406999	A8K056|J3KNJ5|Q96D64	Silent	SNP	ENST00000391969.2	37	CCDS54442.1																																																																																				0.657	NEU4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257270.2	NM_080741	
JAK2	3717	hgsc.bcm.edu	37	9	5077468	5077468	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr9:5077468A>G	ENST00000381652.3	+	15	2374	c.1880A>G	c.(1879-1881)gAg>gGg	p.E627G	AL161450.1_ENST00000601793.1_Intron|JAK2_ENST00000539801.1_Missense_Mutation_p.E627G|JAK2_ENST00000544510.1_Missense_Mutation_p.E478G	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	627	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament polymerization (GO:0030041)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone receptor signaling pathway (GO:0060396)|histone H3-Y41 phosphorylation (GO:0035409)|hormone-mediated signaling pathway (GO:0009755)|host programmed cell death induced by symbiont (GO:0034050)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-12-mediated signaling pathway (GO:0035722)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|mammary gland epithelium development (GO:0061180)|mesoderm development (GO:0007498)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA binding (GO:0043392)|negative regulation of heart contraction (GO:0045822)|negative regulation of neuron apoptotic process (GO:0043524)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell activation (GO:0050867)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA binding (GO:0043388)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of inflammatory response (GO:0050729)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to antibiotic (GO:0046677)|response to hydroperoxide (GO:0033194)|response to interleukin-12 (GO:0070671)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|tyrosine phosphorylation of STAT protein (GO:0007260)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome lumen (GO:0031904)|membrane raft (GO:0045121)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|heme binding (GO:0020037)|histone binding (GO:0042393)|histone kinase activity (H3-Y41 specific) (GO:0035401)|interleukin-12 receptor binding (GO:0005143)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	CTGGTTCAGGAGTTTGTAAAA	0.239		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial																															Dom	yes		9	9p24	3717	Janus kinase 2		L	0			9											9.0	10.0	10.0					9																	5077468		2019	4157	6176	5067468	SO:0001583	missense	3717	Familial Cancer Database			CCDS6457.1	9p24	2014-09-17	2009-04-23		ENSG00000096968	ENSG00000096968	2.7.10.1	"""SH2 domain containing"""	6192	protein-coding gene	gene with protein product		147796				1848670	Standard	NM_004972		Approved	JTK10	uc003ziw.3	O60674	OTTHUMG00000019490	ENST00000381652.3:c.1880A>G	9.37:g.5077468A>G	ENSP00000371067:p.Glu627Gly		5067468	O14636|O75297	Missense_Mutation	SNP	ENST00000381652.3	37	CCDS6457.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.545734	0.86022	.	.	ENSG00000096968	ENST00000539801;ENST00000381652;ENST00000544510	T;T;T	0.59083	0.29;0.29;0.29	5.98	5.98	0.97165	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.84911	0.5577	H	0.97491	4.015	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90262	0.4301	10	0.87932	D	0	-18.9686	16.4696	0.84102	1.0:0.0:0.0:0.0	.	627	O60674	JAK2_HUMAN	G	627;627;478	ENSP00000440387:E627G;ENSP00000371067:E627G;ENSP00000443103:E478G	ENSP00000371067:E627G	E	+	2	0	JAK2	5067468	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.878000	0.92393	2.289000	0.77006	0.482000	0.46254	GAG		0.239	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051609.1		
TOPORS	10210	hgsc.bcm.edu	37	9	32541758	32541758	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr9:32541758T>C	ENST00000360538.2	-	3	2881	c.2765A>G	c.(2764-2766)gAg>gGg	p.E922G	TOPORS_ENST00000379858.1_Missense_Mutation_p.E857G	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	922				E -> G (in Ref. 1; AAD23379). {ECO:0000305}.	cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		TTCTGTATCCTCCTTTACTTC	0.383																																																	0			9											206.0	189.0	195.0					9																	32541758		2203	4300	6503	32531758	SO:0001583	missense	10210			AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"""RING-type (C3HC4) zinc fingers"""	21653	protein-coding gene	gene with protein product		609507	"""retinitis pigmentosa 31 (autosomal dominant)"", ""topoisomerase I binding, arginine/serine-rich"""	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.2765A>G	9.37:g.32541758T>C	ENSP00000353735:p.Glu922Gly		32531758	O43273|Q6P987|Q9NS55|Q9UNR9	Missense_Mutation	SNP	ENST00000360538.2	37	CCDS6527.1	.	.	.	.	.	.	.	.	.	.	T	13.34	2.208130	0.39003	.	.	ENSG00000197579	ENST00000360538;ENST00000379858	T;T	0.17054	2.3;2.31	5.81	4.72	0.59763	.	0.145335	0.32328	N	0.006256	T	0.11410	0.0278	N	0.14661	0.345	0.23126	N	0.998251	B	0.24186	0.099	B	0.24155	0.051	T	0.21008	-1.0258	10	0.72032	D	0.01	-5.9919	11.6529	0.51299	0.0:0.0:0.1833:0.8167	.	922	Q9NS56	TOPRS_HUMAN	G	922;857	ENSP00000353735:E922G;ENSP00000369187:E857G	ENSP00000353735:E922G	E	-	2	0	TOPORS	32531758	0.944000	0.32072	0.883000	0.34634	0.402000	0.30811	1.312000	0.33574	1.115000	0.41800	0.528000	0.53228	GAG		0.383	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	NM_005802	
MAMDC2	256691	hgsc.bcm.edu	37	9	72840712	72840712	+	Missense_Mutation	SNP	C	C	A			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr9:72840712C>A	ENST00000377182.4	+	13	2575	c.1958C>A	c.(1957-1959)gCc>gAc	p.A653D	SMC5-AS1_ENST00000594708.1_RNA	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2	653	MAM 4. {ECO:0000255|PROSITE- ProRule:PRU00128}.				peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)	endoplasmic reticulum (GO:0005783)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	glycosaminoglycan binding (GO:0005539)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						AGTGATATTGCCATTGATGAT	0.333																																																	0			9											81.0	82.0	82.0					9																	72840712		2202	4299	6501	72030532	SO:0001583	missense	256691			BC040299	CCDS6631.1	9q21.2	2008-02-05			ENSG00000165072	ENSG00000165072			23673	protein-coding gene	gene with protein product		612879					Standard	NM_153267		Approved	MGC21981	uc004ahm.2	Q7Z304	OTTHUMG00000019990	ENST00000377182.4:c.1958C>A	9.37:g.72840712C>A	ENSP00000366387:p.Ala653Asp		72030532	Q5VW47|Q8WX43|Q96BM4	Missense_Mutation	SNP	ENST00000377182.4	37	CCDS6631.1	.	.	.	.	.	.	.	.	.	.	C	18.82	3.705201	0.68615	.	.	ENSG00000165072	ENST00000377182	T	0.03441	3.93	6.08	6.08	0.98989	Concanavalin A-like lectin/glucanase (1);MAM domain (4);	0.046059	0.85682	D	0.000000	T	0.28001	0.0690	H	0.94964	3.605	0.58432	D	0.999999	D	0.89917	1.0	D	0.81914	0.995	T	0.11717	-1.0576	10	0.87932	D	0	-17.1594	16.0688	0.80909	0.0:0.8668:0.1332:0.0	.	653	Q7Z304	MAMC2_HUMAN	D	653	ENSP00000366387:A653D	ENSP00000366387:A653D	A	+	2	0	MAMDC2	72030532	1.000000	0.71417	1.000000	0.80357	0.672000	0.39443	4.375000	0.59549	2.894000	0.99253	0.655000	0.94253	GCC		0.333	MAMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052600.1	NM_153267	
SMC2	10592	hgsc.bcm.edu	37	9	106889739	106889739	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr9:106889739A>G	ENST00000286398.7	+	20	3056	c.2768A>G	c.(2767-2769)gAg>gGg	p.E923G	SMC2_ENST00000303219.8_Missense_Mutation_p.E923G|SMC2_ENST00000374787.3_Missense_Mutation_p.E923G|SMC2_ENST00000374793.3_Missense_Mutation_p.E923G	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	923					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						CATAAACGGGAGGCTGAAGAT	0.343																																																	0			9											131.0	123.0	126.0					9																	106889739		2203	4300	6503	105929560	SO:0001583	missense	10592			AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"""Structural maintenance of chromosomes proteins"""	14011	protein-coding gene	gene with protein product		605576	"""SMC2 (structural maintenance of chromosomes 2, yeast)-like 1"", ""SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"""	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.2768A>G	9.37:g.106889739A>G	ENSP00000286398:p.Glu923Gly		105929560	Q6IEE0|Q9P1P2	Missense_Mutation	SNP	ENST00000286398.7	37	CCDS35086.1	.	.	.	.	.	.	.	.	.	.	A	16.96	3.265727	0.59540	.	.	ENSG00000136824	ENST00000286398;ENST00000374793;ENST00000303219;ENST00000374787	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.84	5.84	0.93424	RecF/RecN/SMC (1);	0.094159	0.64402	D	0.000001	T	0.80444	0.4624	M	0.82132	2.575	0.50813	D	0.999896	B	0.21309	0.054	B	0.30316	0.114	T	0.76650	-0.2881	10	0.33940	T	0.23	-9.511	15.0453	0.71822	1.0:0.0:0.0:0.0	.	923	O95347	SMC2_HUMAN	G	923	ENSP00000286398:E923G;ENSP00000363925:E923G;ENSP00000306152:E923G;ENSP00000363919:E923G	ENSP00000286398:E923G	E	+	2	0	SMC2	105929560	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.801000	0.75170	2.229000	0.72834	0.528000	0.53228	GAG		0.343	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053470.1		
SETX	23064	hgsc.bcm.edu	37	9	135150792	135150792	+	Silent	SNP	A	A	G			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr9:135150792A>G	ENST00000224140.5	-	23	7133	c.6951T>C	c.(6949-6951)gtT>gtC	p.V2317V	SETX_ENST00000393220.1_Silent_p.V2317V|SETX_ENST00000372169.2_Silent_p.V2317V|SETX_ENST00000477049.1_5'Flank	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	2317					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TTATTTCTTGAACATTTATAT	0.308																																																	0			9											81.0	78.0	79.0					9																	135150792		2203	4298	6501	134140613	SO:0001819	synonymous_variant	23064			AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.6951T>C	9.37:g.135150792A>G			134140613	A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Silent	SNP	ENST00000224140.5	37	CCDS6947.1																																																																																				0.308	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046	
SETX	23064	hgsc.bcm.edu	37	9	135150794	135150794	+	Missense_Mutation	SNP	C	C	A			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr9:135150794C>A	ENST00000224140.5	-	23	7131	c.6949G>T	c.(6949-6951)Gtt>Ttt	p.V2317F	SETX_ENST00000393220.1_Missense_Mutation_p.V2317F|SETX_ENST00000372169.2_Missense_Mutation_p.V2317F|SETX_ENST00000477049.1_5'Flank	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	2317					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		ATTTCTTGAACATTTATATAT	0.308																																																	0			9											81.0	78.0	79.0					9																	135150794		2203	4298	6501	134140615	SO:0001583	missense	23064			AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.6949G>T	9.37:g.135150794C>A	ENSP00000224140:p.Val2317Phe		134140615	A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	37	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	C	9.582	1.123934	0.20959	.	.	ENSG00000107290	ENST00000224140;ENST00000436441;ENST00000372169;ENST00000393220	D;D;D;D	0.92495	-3.05;-3.05;-3.05;-3.05	5.76	-2.82	0.05787	.	0.755427	0.12249	N	0.485788	D	0.84037	0.5384	L	0.46741	1.465	0.30635	N	0.757027	B;P;P	0.45634	0.231;0.863;0.646	B;B;B	0.43990	0.325;0.438;0.363	T	0.78173	-0.2307	10	0.09590	T	0.72	.	0.7862	0.01049	0.2032:0.2108:0.179:0.4069	.	2317;2317;2317	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	F	2317;559;2317;2317	ENSP00000224140:V2317F;ENSP00000409143:V559F;ENSP00000361242:V2317F;ENSP00000376913:V2317F	ENSP00000224140:V2317F	V	-	1	0	SETX	134140615	0.988000	0.35896	0.870000	0.34147	0.826000	0.46750	0.142000	0.16096	-0.482000	0.06782	0.555000	0.69702	GTT		0.308	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046	
SNAPC4	6621	hgsc.bcm.edu	37	9	139273295	139273295	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr9:139273295T>C	ENST00000298532.2	-	21	3352	c.2984A>G	c.(2983-2985)gAg>gGg	p.E995G		NM_003086.2	NP_003077.2			small nuclear RNA activating complex, polypeptide 4, 190kDa											biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		GCCCTCGGCCTCTGAGAAGAC	0.652																																																	0			9											17.0	21.0	20.0					9																	139273295		2193	4296	6489	138393116	SO:0001583	missense	6621			AF032387	CCDS6998.1	9q34.3	2008-07-21	2002-08-29		ENSG00000165684	ENSG00000165684			11137	protein-coding gene	gene with protein product		602777	"""small nuclear RNA activating complex, polypeptide 4, 190kD"""			9418884	Standard	XM_005266096		Approved	SNAP190, PTFalpha, FLJ13451	uc004chh.3	Q5SXM2	OTTHUMG00000020929	ENST00000298532.2:c.2984A>G	9.37:g.139273295T>C	ENSP00000298532:p.Glu995Gly		138393116		Missense_Mutation	SNP	ENST00000298532.2	37	CCDS6998.1	.	.	.	.	.	.	.	.	.	.	T	0.197	-1.048232	0.01981	.	.	ENSG00000165684	ENST00000298532	T	0.23754	1.89	2.5	-1.25	0.09405	.	7.452280	0.00166	N	0.000003	T	0.06735	0.0172	N	0.00483	-1.445	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18304	-1.0341	10	0.15952	T	0.53	-0.3848	2.5239	0.04687	0.2517:0.4333:0.0:0.315	.	995	Q5SXM2	SNPC4_HUMAN	G	995	ENSP00000298532:E995G	ENSP00000298532:E995G	E	-	2	0	SNAPC4	138393116	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-0.589000	0.05767	-0.190000	0.10465	-0.696000	0.03686	GAG		0.652	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055071.1	NM_003086	
DCLK1	9201	hgsc.bcm.edu	37	13	36445372	36445372	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr13:36445372G>A	ENST00000360631.3	-	5	1140	c.929C>T	c.(928-930)tCc>tTc	p.S310F	DCLK1_ENST00000379892.4_Missense_Mutation_p.S310F|DCLK1_ENST00000255448.4_Missense_Mutation_p.S310F			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	310	Pro/Ser-rich.				axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		TGAGCTGGTGGAGGCAGGGGA	0.527																																																	0			13											175.0	166.0	169.0					13																	36445372		2203	4300	6503	35343372	SO:0001583	missense	9201			AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"""doublecortin and CaM kinase-like 1"""	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.929C>T	13.37:g.36445372G>A	ENSP00000353846:p.Ser310Phe		35343372	B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Missense_Mutation	SNP	ENST00000360631.3	37		.	.	.	.	.	.	.	.	.	.	G	21.7	4.193711	0.78902	.	.	ENSG00000133083	ENST00000255448;ENST00000360631;ENST00000539451;ENST00000379892	T;T;T	0.69435	-0.4;-0.4;1.74	5.43	5.43	0.79202	.	0.075461	0.53938	D	0.000041	T	0.68265	0.2982	N	0.19112	0.55	0.53005	D	0.999968	P	0.51791	0.948	P	0.56514	0.8	T	0.69978	-0.4998	10	0.48119	T	0.1	.	19.5966	0.95541	0.0:0.0:1.0:0.0	.	310	O15075-2	.	F	310	ENSP00000255448:S310F;ENSP00000353846:S310F;ENSP00000369222:S310F	ENSP00000255448:S310F	S	-	2	0	DCLK1	35343372	1.000000	0.71417	0.844000	0.33320	0.985000	0.73830	6.879000	0.75572	2.698000	0.92095	0.655000	0.94253	TCC		0.527	DCLK1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000044487.1	NM_004734	
ATP7B	540	hgsc.bcm.edu	37	13	52532539	52532539	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr13:52532539T>C	ENST00000242839.4	-	8	2419	c.2263A>G	c.(2263-2265)Aag>Gag	p.K755E	ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000417240.2_Missense_Mutation_p.K27E|ATP7B_ENST00000542656.1_3'UTR|ATP7B_ENST00000418097.2_Missense_Mutation_p.K755E|ATP7B_ENST00000448424.2_Intron|ATP7B_ENST00000400366.3_Missense_Mutation_p.K644E|ATP7B_ENST00000344297.5_Intron|ATP7B_ENST00000482841.1_Intron	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	755					cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	CTCTCCGCCTTCTCAGCCACA	0.552									Wilson disease																																								0			13											112.0	118.0	116.0					13																	52532539		2081	4217	6298	51430540	SO:0001583	missense	540	Familial Cancer Database		U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"""ATPases / P-type"""	870	protein-coding gene	gene with protein product	"""Wilson disease"", ""copper pump 2"", ""copper-transporting ATPase 2"""	606882	"""ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"""	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.2263A>G	13.37:g.52532539T>C	ENSP00000242839:p.Lys755Glu		51430540	Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Missense_Mutation	SNP	ENST00000242839.4	37	CCDS41892.1	.	.	.	.	.	.	.	.	.	.	T	17.40	3.380353	0.61845	.	.	ENSG00000123191	ENST00000242839;ENST00000400366;ENST00000417240;ENST00000418097	D;D;D;D	0.95137	-3.62;-3.62;-3.62;-3.62	5.54	3.12	0.35913	ATPase,  P-type, cytoplasmic transduction domain A (1);	0.340362	0.34986	N	0.003532	D	0.90693	0.7080	L	0.38692	1.165	0.80722	D	1	P;B;B;P	0.38129	0.619;0.0;0.103;0.491	B;B;B;B	0.44108	0.441;0.001;0.024;0.184	D	0.84076	0.0382	10	0.19590	T	0.45	-7.6007	8.1175	0.30953	0.0:0.071:0.1469:0.782	.	755;27;644;755	F5H748;E7EQQ2;P35670-3;P35670	.;.;.;ATP7B_HUMAN	E	755;644;27;755	ENSP00000242839:K755E;ENSP00000383217:K644E;ENSP00000390360:K27E;ENSP00000393343:K755E	ENSP00000242839:K755E	K	-	1	0	ATP7B	51430540	1.000000	0.71417	0.984000	0.44739	0.884000	0.51177	2.560000	0.45896	0.386000	0.24997	0.460000	0.39030	AAG		0.552	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045981.1	NM_000053	
DOCK9	23348	hgsc.bcm.edu	37	13	99554620	99554620	+	Silent	SNP	C	C	T			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr13:99554620C>T	ENST00000376460.1	-	12	1382	c.1302G>A	c.(1300-1302)gcG>gcA	p.A434A	DOCK9_ENST00000339416.2_Silent_p.A435A|DOCK9_ENST00000448493.2_Silent_p.A446A|DOCK9_ENST00000442173.1_Silent_p.A434A	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	435					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CATTCATCAGCGCCGGGGACG	0.542																																																	0			13											70.0	75.0	73.0					13																	99554620		2128	4243	6371	98352621	SO:0001819	synonymous_variant	23348			AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387		"""Pleckstrin homology (PH) domain containing"""	14132	protein-coding gene	gene with protein product	"""zizimin1"""	607325				12172552, 12432077	Standard	NM_015296		Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000376460.1:c.1302G>A	13.37:g.99554620C>T			98352621	B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Silent	SNP	ENST00000376460.1	37	CCDS45062.1																																																																																				0.542	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045566.1	NM_015296	
MCF2L	23263	hgsc.bcm.edu	37	13	113699587	113699587	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr13:113699587T>C	ENST00000375608.3	+	5	429	c.371T>C	c.(370-372)cTg>cCg	p.L124P	MCF2L_ENST00000397021.1_Missense_Mutation_p.L56P|MCF2L_ENST00000421756.1_Missense_Mutation_p.L98P|MCF2L_ENST00000375604.2_Missense_Mutation_p.L151P|MCF2L_ENST00000442652.2_Missense_Mutation_p.L124P|MCF2L_ENST00000434480.2_Missense_Mutation_p.L100P|MCF2L_ENST00000397030.1_Missense_Mutation_p.L127P|MCF2L_ENST00000480321.1_3'UTR|MCF2L_ENST00000423482.2_Missense_Mutation_p.L92P|MCF2L_ENST00000375597.4_Missense_Mutation_p.L92P|MCF2L_ENST00000375601.3_Missense_Mutation_p.L98P|MCF2L_ENST00000535094.2_Missense_Mutation_p.L94P			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	124	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				CACTGCAGCCTGCAGGACGCT	0.607																																																	0			13											61.0	59.0	59.0					13																	113699587		2203	4300	6503	112747588	SO:0001583	missense	23263			AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.371T>C	13.37:g.113699587T>C	ENSP00000364758:p.Leu124Pro		112747588	A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Missense_Mutation	SNP	ENST00000375608.3	37		.	.	.	.	.	.	.	.	.	.	T	15.17	2.754318	0.49362	.	.	ENSG00000126217	ENST00000375608;ENST00000442652;ENST00000375604;ENST00000397030;ENST00000430480;ENST00000535094;ENST00000421756;ENST00000375601;ENST00000434480;ENST00000409954;ENST00000423482;ENST00000375597;ENST00000397021;ENST00000423251	T;T;T;T;T;T;T;T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;0.99	4.44	4.44	0.53790	Cellular retinaldehyde-binding/triple function, C-terminal (2);	0.000000	0.64402	D	0.000001	T	0.70902	0.3277	L	0.46885	1.475	0.58432	D	0.999997	D;D;D;D;D;D	0.89917	0.999;0.999;1.0;1.0;0.998;0.999	D;D;D;D;D;D	0.85130	0.987;0.987;0.993;0.997;0.987;0.992	T	0.73052	-0.4104	10	0.72032	D	0.01	.	10.2484	0.43354	0.0:0.0:0.0:1.0	.	92;94;151;56;92;124	E9PDN8;O15068-9;G5E9A1;E2QRA2;O15068-4;O15068	.;.;.;.;.;MCF2L_HUMAN	P	124;124;151;127;94;94;98;98;100;65;92;92;56;14	ENSP00000364758:L124P;ENSP00000401422:L124P;ENSP00000364754:L151P;ENSP00000380225:L127P;ENSP00000440374:L94P;ENSP00000397285:L98P;ENSP00000364751:L98P;ENSP00000407722:L100P;ENSP00000386551:L65P;ENSP00000405639:L92P;ENSP00000364747:L92P;ENSP00000405996:L14P	ENSP00000364747:L92P	L	+	2	0	MCF2L	112747588	0.969000	0.33509	0.478000	0.27316	0.301000	0.27625	3.491000	0.53252	1.983000	0.57843	0.459000	0.35465	CTG		0.607	MCF2L-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045849.4		
ADARB2	105	hgsc.bcm.edu	37	10	1230968	1230968	+	Missense_Mutation	SNP	C	C	T	rs2271275	byFrequency	TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr10:1230968C>T	ENST00000381312.1	-	9	2201	c.1876G>A	c.(1876-1878)Gcc>Acc	p.A626T	ADARB2_ENST00000381305.1_Missense_Mutation_p.A28T|ADARB2_ENST00000381310.3_Missense_Mutation_p.A135T	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	626	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.		A -> T (in dbSNP:rs2271275). {ECO:0000269|PubMed:15489334}.		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)		CGCGCCTCGGCGTCACTCACG	0.667													C|||	2720	0.543131	0.2504	0.5115	5008	,	,		15505	0.6696		0.6809	False		,,,				2504	0.6892																0			10						C	THR/ALA	1422,2984		224,974,1005	22.0	23.0	23.0		1876	4.8	0.0	10	dbSNP_100	23	5866,2730		2007,1852,439	yes	missense	ADARB2	NM_018702.3	58	2231,2826,1444	TT,TC,CC		31.759,32.2742,43.9471	benign	626/740	1230968	7288,5714	2203	4298	6501	1220968	SO:0001583	missense	105			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.1876G>A	10.37:g.1230968C>T	ENSP00000370713:p.Ala626Thr		1220968	B2RPJ5|Q5VUT6|Q5VW42	Missense_Mutation	SNP	ENST00000381312.1	37	CCDS7058.1	1213	0.5554029304029304	119	0.241869918699187	203	0.5607734806629834	372	0.6503496503496503	519	0.6846965699208444	C	13.59	2.281430	0.40394	0.322742	0.68241	ENSG00000185736	ENST00000381312;ENST00000381310;ENST00000381305	D;D;D	0.93859	-3.3;-3.3;-3.3	4.81	4.81	0.61882	Adenosine deaminase/editase (3);	0.168400	0.51477	D	0.000099	T	0.00012	0.0000	L	0.53617	1.68	0.09310	P	0.99999836182	B;B;P	0.38223	0.158;0.416;0.623	B;B;B	0.42112	0.098;0.08;0.376	T	0.45454	-0.9260	9	0.34782	T	0.22	-20.7549	17.8992	0.88898	0.0:1.0:0.0:0.0	rs2271275;rs57620546;rs2271275	626;28;135	Q9NS39;Q5VW43;Q5VW42	RED2_HUMAN;.;.	T	626;135;28	ENSP00000370713:A626T;ENSP00000370711:A135T;ENSP00000370706:A28T	ENSP00000370706:A28T	A	-	1	0	ADARB2	1220968	0.631000	0.27164	0.046000	0.18839	0.138000	0.21146	1.502000	0.35704	2.220000	0.72140	0.561000	0.74099	GCC		0.667	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046426.1	NM_018702	
IL2RA	3559	hgsc.bcm.edu	37	10	6067847	6067847	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr10:6067847C>T	ENST00000379959.3	-	2	379	c.206G>A	c.(205-207)gGa>gAa	p.G69E	IL2RA_ENST00000256876.6_Missense_Mutation_p.G69E|RP11-536K7.5_ENST00000440436.1_RNA|IL2RA_ENST00000379954.1_Missense_Mutation_p.G69E	NM_000417.2	NP_000408.1	P01589	IL2RA_HUMAN	interleukin 2 receptor, alpha	69	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				activation-induced cell death of T cells (GO:0006924)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-2-mediated signaling pathway (GO:0038110)|negative regulation of defense response to virus (GO:0050687)|negative regulation of immune response (GO:0050777)|negative regulation of inflammatory response (GO:0050728)|negative regulation of T cell proliferation (GO:0042130)|Notch signaling pathway (GO:0007219)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of T cell differentiation (GO:0045582)|regulation of T cell homeostatic proliferation (GO:0046013)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|interleukin-2 receptor activity (GO:0004911)			endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	GCTAGAGTTTCCTGTACAGAG	0.463																																																	0			10											114.0	106.0	109.0					10																	6067847		2203	4300	6503	6107853	SO:0001583	missense	3559			X01057	CCDS7076.1	10p15-p14	2014-09-17			ENSG00000134460	ENSG00000134460		"""Interleukins and interleukin receptors"", ""CD molecules"""	6008	protein-coding gene	gene with protein product		147730	"""insulin-dependent diabetes mellitus 10"""	IL2R, IDDM10		3925551, 17676041	Standard	NM_000417		Approved	CD25	uc001iiz.2	P01589	OTTHUMG00000017616	ENST00000379959.3:c.206G>A	10.37:g.6067847C>T	ENSP00000369293:p.Gly69Glu		6107853	Q5W007	Missense_Mutation	SNP	ENST00000379959.3	37	CCDS7076.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.21|16.21	3.058078|3.058078	0.55325|0.55325	.|.	.|.	ENSG00000134460|ENSG00000134460	ENST00000447847|ENST00000379959;ENST00000397240;ENST00000379954;ENST00000256876	.|T;T;T	.|0.63096	.|-0.02;-0.02;-0.02	4.72|4.72	2.8|2.8	0.32819|0.32819	.|Complement control module (2);Sushi/SCR/CCP (3);	.|0.474816	.|0.18682	.|N	.|0.134136	T|T	0.65729|0.65729	0.2719|0.2719	L|L	0.49126|0.49126	1.545|1.545	0.09310|0.09310	N|N	1|1	.|P;D;D	.|0.59357	.|0.715;0.985;0.977	.|B;P;P	.|0.58928	.|0.313;0.848;0.666	T|T	0.54702|0.54702	-0.8254|-0.8254	5|10	.|0.56958	.|D	.|0.05	-31.3022|-31.3022	6.313|6.313	0.21174|0.21174	0.0:0.7127:0.187:0.1003|0.0:0.7127:0.187:0.1003	.|.	.|69;55;69	.|Q5W005;E9PF94;P01589	.|.;.;IL2RA_HUMAN	K|E	40|69;55;69;69	.|ENSP00000369293:G69E;ENSP00000369287:G69E;ENSP00000256876:G69E	.|ENSP00000256876:G69E	E|G	-|-	1|2	0|0	IL2RA|IL2RA	6107853|6107853	0.002000|0.002000	0.14202|0.14202	0.011000|0.011000	0.14972|0.14972	0.129000|0.129000	0.20672|0.20672	0.172000|0.172000	0.16704|0.16704	0.672000|0.672000	0.31204|0.31204	0.585000|0.585000	0.79938|0.79938	GAA|GGA		0.463	IL2RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046627.1	NM_000417	
ST8SIA6	338596	hgsc.bcm.edu	37	10	17369026	17369026	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr10:17369026C>T	ENST00000377602.4	-	6	696	c.622G>A	c.(622-624)Gac>Aac	p.D208N		NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	208					carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycolipid biosynthetic process (GO:0009247)|glycoprotein metabolic process (GO:0009100)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked glycosylation (GO:0006493)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	sialyltransferase activity (GO:0008373)			endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						AAAACGAAGTCGGATTTATCT	0.393																																																	0			10											97.0	94.0	95.0					10																	17369026		2203	4300	6503	17409032	SO:0001583	missense	338596				CCDS31158.1	10p13	2013-03-01	2005-02-07	2005-02-07	ENSG00000148488	ENSG00000148488		"""Sialyltransferases"""	23317	protein-coding gene	gene with protein product	"""ST8Sia VI"""	610139	"""sialyltransferase 8F (alpha-2, 8-sialyltransferase)"""	SIAT8F		11980897	Standard	XR_242697		Approved		uc001ipd.3	P61647	OTTHUMG00000017748	ENST00000377602.4:c.622G>A	10.37:g.17369026C>T	ENSP00000366827:p.Asp208Asn		17409032	B0YJ97|B9EH72|Q5VZH4	Missense_Mutation	SNP	ENST00000377602.4	37	CCDS31158.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.52|19.52	3.842802|3.842802	0.71488|0.71488	.|.	.|.	ENSG00000148488|ENSG00000148488	ENST00000377610;ENST00000377602|ENST00000440449	T|.	0.55413|.	0.52|.	4.95|4.95	4.03|4.03	0.46877|0.46877	.|.	0.201547|.	0.52532|.	D|.	0.000065|.	T|T	0.79251|0.79251	0.4414|0.4414	M|M	0.86953|0.86953	2.85|2.85	0.51233|0.51233	D|D	0.999916|0.999916	D|.	0.64830|.	0.994|.	P|.	0.48795|.	0.59|.	T|T	0.83074|0.83074	-0.0141|-0.0141	10|5	0.48119|.	T|.	0.1|.	-14.449|-14.449	15.6336|15.6336	0.76933|0.76933	0.0:0.8622:0.1378:0.0|0.0:0.8622:0.1378:0.0	.|.	208|.	P61647|.	SIA8F_HUMAN|.	N|Q	38;208|28	ENSP00000366827:D208N|.	ENSP00000366827:D208N|.	D|R	-|-	1|2	0|0	ST8SIA6|ST8SIA6	17409032|17409032	0.998000|0.998000	0.40836|0.40836	0.878000|0.878000	0.34440|0.34440	0.987000|0.987000	0.75469|0.75469	4.064000|4.064000	0.57506|0.57506	1.398000|1.398000	0.46701|0.46701	0.655000|0.655000	0.94253|0.94253	GAC|CGA		0.393	ST8SIA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047036.1	NM_001004470	
MYO3A	53904	hgsc.bcm.edu	37	10	26463233	26463233	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr10:26463233A>G	ENST00000265944.5	+	30	4206	c.4040A>G	c.(4039-4041)gAt>gGt	p.D1347G	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1347	IQ 3. {ECO:0000255|PROSITE- ProRule:PRU00116}.		D -> H (in a renal clear cell carcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GAGGAAGAAGATAAAGCAGCG	0.502																																																	0			10											127.0	126.0	126.0					10																	26463233		2203	4300	6503	26503239	SO:0001583	missense	53904			AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.4040A>G	10.37:g.26463233A>G	ENSP00000265944:p.Asp1347Gly		26503239	Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	A	14.34	2.504989	0.44558	.	.	ENSG00000095777	ENST00000265944	T	0.79141	-1.24	1.34	-2.69	0.06022	.	0.406068	0.30791	N	0.008878	T	0.62490	0.2432	L	0.27053	0.805	0.36413	D	0.863826	P	0.43938	0.822	P	0.45998	0.5	T	0.59952	-0.7357	10	0.62326	D	0.03	.	3.391	0.07289	0.6171:0.231:0.1519:0.0	.	1347	Q8NEV4	MYO3A_HUMAN	G	1347	ENSP00000265944:D1347G	ENSP00000265944:D1347G	D	+	2	0	MYO3A	26503239	0.951000	0.32395	0.001000	0.08648	0.672000	0.39443	2.249000	0.43169	-1.303000	0.02332	-0.538000	0.04264	GAT		0.502	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433	
RET	5979	hgsc.bcm.edu	37	10	43601939	43601939	+	Missense_Mutation	SNP	C	C	G			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr10:43601939C>G	ENST00000355710.3	+	5	1215	c.983C>G	c.(982-984)aCc>aGc	p.T328S	RET_ENST00000340058.5_Missense_Mutation_p.T328S	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	328					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	GCCCAGCAGACCTTCCGGGTG	0.642		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)		yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	ret proto-oncogene	yes	"""E, O"""	0			10											55.0	47.0	50.0					10																	43601939		2202	4300	6502	42921945	SO:0001583	missense	5979	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"""Cadherins / Cadherin-related"""	9967	protein-coding gene	gene with protein product	"""cadherin-related family member 16"""	164761	"""multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1"""	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.983C>G	10.37:g.43601939C>G	ENSP00000347942:p.Thr328Ser		42921945	A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	ENST00000355710.3	37	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	C	15.63	2.888955	0.52014	.	.	ENSG00000165731	ENST00000355710;ENST00000340058;ENST00000535749	T;T	0.80214	-1.23;-1.35	5.32	2.21	0.28008	.	0.450964	0.26003	N	0.026933	T	0.67822	0.2934	L	0.56769	1.78	0.28953	N	0.890311	B;B;P	0.40875	0.075;0.393;0.731	B;B;B	0.33620	0.08;0.08;0.167	T	0.61023	-0.7146	10	0.30854	T	0.27	.	3.4583	0.07523	0.3571:0.4503:0.0:0.1926	.	74;328;328	B4DGX8;P07949;P07949-2	.;RET_HUMAN;.	S	328	ENSP00000347942:T328S;ENSP00000344798:T328S	ENSP00000344798:T328S	T	+	2	0	RET	42921945	0.840000	0.29493	0.998000	0.56505	0.976000	0.68499	0.253000	0.18296	0.790000	0.33803	0.563000	0.77884	ACC		0.642	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975	
SYT15	83849	hgsc.bcm.edu	37	10	46968630	46968630	+	Missense_Mutation	SNP	G	G	C	rs201674590	byFrequency	TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr10:46968630G>C	ENST00000374321.4	-	3	372	c.306C>G	c.(304-306)gaC>gaG	p.D102E	SYT15_ENST00000374323.4_Missense_Mutation_p.D155E|SYT15_ENST00000503753.1_Missense_Mutation_p.D102E|SYT15_ENST00000374325.3_Missense_Mutation_p.D102E|RP11-38L15.3_ENST00000506914.1_RNA	NM_031912.4	NP_114118.2	Q9BQS2	SYT15_HUMAN	synaptotagmin XV	102						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						CCGGGCAGGGGTCCCATGGGG	0.677													G|||	17	0.00339457	0.0121	0.0014	5008	,	,		34486	0.0		0.0	False		,,,				2504	0.0				Ovarian(57;1152 1428 19651 37745)												0			10						G	GLU/ASP,GLU/ASP	24,4180		0,24,2078	37.0	47.0	44.0		306,306	2.7	0.1	10		44	0,8438		0,0,4219	yes	missense,missense	SYT15	NM_031912.4,NM_181519.2	45,45	0,24,6297	CC,CG,GG		0.0,0.5709,0.1898	benign,benign	102/422,102/391	46968630	24,12618	2102	4219	6321	46388636	SO:0001583	missense	83849			AJ303363	CCDS73103.1, CCDS73104.1	10q11.1	2013-01-21			ENSG00000204176	ENSG00000204176		"""Synaptotagmins"""	17167	protein-coding gene	gene with protein product		608081				11543631	Standard	NM_031912		Approved	CHR10SYT	uc001jea.3	Q9BQS2	OTTHUMG00000018103	ENST00000374321.4:c.306C>G	10.37:g.46968630G>C	ENSP00000363441:p.Asp102Glu		46388636	A5D6W8|Q5VY53|Q5VY55|Q7Z439|Q7Z440	Missense_Mutation	SNP	ENST00000374321.4	37	CCDS44376.1	.	.	.	.	.	.	.	.	.	.	.	7.693	0.691560	0.15039	0.005709	0.0	ENSG00000204176	ENST00000416127;ENST00000374325;ENST00000503753;ENST00000374323;ENST00000374321	T;T;T;T	0.13420	2.59;2.59;2.95;2.82	4.59	2.69	0.31865	.	0.296665	0.32175	N	0.006477	T	0.07999	0.0200	L	0.56769	1.78	0.27051	N	0.963789	B;B	0.17667	0.013;0.023	B;B	0.16289	0.006;0.015	T	0.23084	-1.0198	10	0.15066	T	0.55	.	6.5028	0.22178	0.0975:0.3568:0.5456:0.0	.	102;102	Q9BQS2;Q9BQS2-2	SYT15_HUMAN;.	E	102;102;102;155;102	ENSP00000363445:D102E;ENSP00000427607:D102E;ENSP00000363443:D155E;ENSP00000363441:D102E	ENSP00000363441:D102E	D	-	3	2	SYT15	46388636	0.977000	0.34250	0.091000	0.20842	0.015000	0.08874	0.925000	0.28791	1.279000	0.44446	0.555000	0.69702	GAC		0.677	SYT15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367008.1	NM_031912	
SYT15	83849	hgsc.bcm.edu	37	10	46968668	46968668	+	Missense_Mutation	SNP	G	G	A	rs199526536	byFrequency	TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr10:46968668G>A	ENST00000374321.4	-	3	334	c.268C>T	c.(268-270)Ccc>Tcc	p.P90S	SYT15_ENST00000374323.4_Missense_Mutation_p.P143S|SYT15_ENST00000503753.1_Missense_Mutation_p.P90S|SYT15_ENST00000374325.3_Missense_Mutation_p.P90S|RP11-38L15.3_ENST00000506914.1_RNA	NM_031912.4	NP_114118.2	Q9BQS2	SYT15_HUMAN	synaptotagmin XV	90						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						CTGTGCAGGGGCACCCAATCT	0.632													G|||	17	0.00339457	0.0121	0.0014	5008	,	,		35581	0.0		0.0	False		,,,				2504	0.0				Ovarian(57;1152 1428 19651 37745)												0			10						G	SER/PRO,SER/PRO	23,4245		0,23,2111	56.0	67.0	63.0		268,268	3.6	0.5	10		63	1,8499		0,1,4249	yes	missense,missense	SYT15	NM_031912.4,NM_181519.2	74,74	0,24,6360	AA,AG,GG		0.0118,0.5389,0.188	benign,benign	90/422,90/391	46968668	24,12744	2134	4250	6384	46388674	SO:0001583	missense	83849			AJ303363	CCDS73103.1, CCDS73104.1	10q11.1	2013-01-21			ENSG00000204176	ENSG00000204176		"""Synaptotagmins"""	17167	protein-coding gene	gene with protein product		608081				11543631	Standard	NM_031912		Approved	CHR10SYT	uc001jea.3	Q9BQS2	OTTHUMG00000018103	ENST00000374321.4:c.268C>T	10.37:g.46968668G>A	ENSP00000363441:p.Pro90Ser		46388674	A5D6W8|Q5VY53|Q5VY55|Q7Z439|Q7Z440	Missense_Mutation	SNP	ENST00000374321.4	37	CCDS44376.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	.	11.26	1.587092	0.28268	0.005389	1.18E-4	ENSG00000204176	ENST00000416127;ENST00000374325;ENST00000503753;ENST00000374323;ENST00000374321	T;T;T;T	0.13420	2.59;2.59;2.6;2.81	4.59	3.61	0.41365	.	0.753114	0.12981	N	0.423316	T	0.08670	0.0215	L	0.60455	1.87	0.18873	N	0.999985	B;B	0.27559	0.179;0.181	B;B	0.26693	0.052;0.072	T	0.26224	-1.0109	10	0.11485	T	0.65	.	7.3993	0.26954	0.0:0.1803:0.6332:0.1865	.	90;90	Q9BQS2;Q9BQS2-2	SYT15_HUMAN;.	S	90;90;90;143;90	ENSP00000363445:P90S;ENSP00000427607:P90S;ENSP00000363443:P143S;ENSP00000363441:P90S	ENSP00000363441:P90S	P	-	1	0	SYT15	46388674	0.365000	0.25006	0.458000	0.27068	0.459000	0.32528	0.287000	0.18920	2.569000	0.86673	0.555000	0.69702	CCC		0.632	SYT15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367008.1	NM_031912	
FGFR2	2263	hgsc.bcm.edu	37	10	123279631	123279631	+	Silent	SNP	G	G	A			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr10:123279631G>A	ENST00000358487.5	-	7	1073	c.801C>T	c.(799-801)tcC>tcT	p.S267S	FGFR2_ENST00000356226.4_Silent_p.S152S|FGFR2_ENST00000369059.1_Silent_p.S152S|FGFR2_ENST00000369060.4_Silent_p.S267S|FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000478859.1_Silent_p.S39S|FGFR2_ENST00000457416.2_Silent_p.S267S|FGFR2_ENST00000357555.5_Silent_p.S178S|FGFR2_ENST00000369061.4_Intron|FGFR2_ENST00000346997.2_Silent_p.S267S|FGFR2_ENST00000351936.6_Silent_p.S267S|FGFR2_ENST00000360144.3_Silent_p.S178S|FGFR2_ENST00000369056.1_Silent_p.S267S	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	267	Ig-like C2-type 3.		S -> P (in CS). {ECO:0000269|PubMed:11781872}.		angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|bone development (GO:0060348)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of a nerve (GO:0048755)|bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|coronal suture morphogenesis (GO:0060365)|digestive tract development (GO:0048565)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic organ development (GO:0048568)|embryonic organ morphogenesis (GO:0048562)|embryonic pattern specification (GO:0009880)|endodermal digestive tract morphogenesis (GO:0061031)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis morphogenesis (GO:0048730)|epithelial cell differentiation (GO:0030855)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in hemopoiesis (GO:0035603)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow (GO:0035602)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow (GO:0035604)|gland morphogenesis (GO:0022612)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lacrimal gland development (GO:0032808)|lateral sprouting from an epithelium (GO:0060601)|lens fiber cell development (GO:0070307)|limb bud formation (GO:0060174)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|mammary gland bud formation (GO:0060615)|membranous septum morphogenesis (GO:0003149)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesodermal cell differentiation (GO:0048333)|midbrain development (GO:0030901)|morphogenesis of embryonic epithelium (GO:0016331)|multicellular organism growth (GO:0035264)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|orbitofrontal cortex development (GO:0021769)|organ growth (GO:0035265)|organ morphogenesis (GO:0009887)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|post-embryonic development (GO:0009791)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|prostate gland morphogenesis (GO:0060512)|protein autophosphorylation (GO:0046777)|pyramidal neuron development (GO:0021860)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of morphogenesis of a branching structure (GO:0060688)|regulation of multicellular organism growth (GO:0040014)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoblast proliferation (GO:0033688)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of smoothened signaling pathway (GO:0008589)|reproductive structure development (GO:0048608)|skeletal system morphogenesis (GO:0048705)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|synaptic vesicle transport (GO:0048489)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular zone neuroblast division (GO:0021847)	cell cortex (GO:0005938)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Thalidomide(DB01041)	CGACCACTGTGGAGGCATTTG	0.567		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome																															Dom	yes		10	10q26	2263	fibroblast growth factor receptor 2	yes	E	0			10											90.0	75.0	80.0					10																	123279631		2203	4300	6503	123269621	SO:0001819	synonymous_variant	2263	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	AK026508	CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1	10q25.3-q26	2013-01-11	2008-08-01		ENSG00000066468	ENSG00000066468		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3689	protein-coding gene	gene with protein product	"""Crouzon syndrome"", ""Pfeiffer syndrome"""	176943	"""bacteria-expressed kinase"", ""keratinocyte growth factor receptor"", ""craniofacial dysostosis 1"", ""Jackson-Weiss syndrome"""	KGFR, BEK, CFD1, JWS			Standard	NM_022970		Approved	CEK3, TK14, TK25, ECT1, K-SAM, CD332	uc021pzy.1	P21802	OTTHUMG00000019175	ENST00000358487.5:c.801C>T	10.37:g.123279631G>A			123269621	B4DFC2|E7EVR6|E9PCR0|P18443|Q01742|Q12922|Q14300|Q14301|Q14302|Q14303|Q14304|Q14305|Q14672|Q14718|Q14719|Q1KHY5|Q86YI4|Q8IXC7|Q96KL9|Q96KM0|Q96KM1|Q96KM2|Q9NZU2|Q9NZU3|Q9UD01|Q9UD02|Q9UIH3|Q9UIH4|Q9UIH5|Q9UIH6|Q9UIH7|Q9UIH8|Q9UM87|Q9UMC6|Q9UNS7|Q9UQH7|Q9UQH8|Q9UQH9|Q9UQI0	Silent	SNP	ENST00000358487.5	37	CCDS31298.1																																																																																				0.567	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050715.1	NM_022976, NM_000141	
CPXM2	119587	hgsc.bcm.edu	37	10	125651150	125651150	+	Missense_Mutation	SNP	G	G	A	rs112027854	byFrequency	TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr10:125651150G>A	ENST00000241305.3	-	1	180	c.26C>T	c.(25-27)cCa>cTa	p.P9L	CPXM2_ENST00000368854.3_Intron	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	9					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		GGCCAGCGCTGGGGTAGCGGT	0.751													g|||	131	0.0261581	0.0938	0.0101	5008	,	,		8004	0.0		0.0	False		,,,				2504	0.0																0			10							LEU/PRO	153,2681		2,149,1266	4.0	6.0	5.0		26	-2.5	0.0	10	dbSNP_132	5	3,5397		0,3,2697	no	missense	CPXM2	NM_198148.2	98	2,152,3963	AA,AG,GG		0.0556,5.3987,1.8946	benign	9/757	125651150	156,8078	1417	2700	4117	125641140	SO:0001583	missense	119587			AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase"""					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.26C>T	10.37:g.125651150G>A	ENSP00000241305:p.Pro9Leu		125641140	B4E3Q2	Missense_Mutation	SNP	ENST00000241305.3	37	CCDS7637.1	.	.	.	.	.	.	.	.	.	.	g	12.37	1.916952	0.33815	0.053987	5.56E-4	ENSG00000121898	ENST00000241305;ENST00000418782	D	0.96716	-4.1	3.45	-2.48	0.06423	.	3.521810	0.01155	N	0.006503	T	0.66406	0.2786	N	0.08118	0	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.78841	-0.2045	10	0.30078	T	0.28	0.0228	7.7622	0.28959	0.6768:0.0:0.3232:0.0	.	9	Q8N436	CPXM2_HUMAN	L	9	ENSP00000241305:P9L	ENSP00000241305:P9L	P	-	2	0	CPXM2	125641140	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	-0.090000	0.11163	-0.418000	0.07450	-0.701000	0.03672	CCA		0.751	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050853.1	NM_198148	
CEP72	55722	hgsc.bcm.edu	37	5	635610	635610	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr5:635610A>G	ENST00000264935.5	+	6	905	c.815A>G	c.(814-816)cAg>cGg	p.Q272R	CEP72_ENST00000444221.1_3'UTR	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	272					G2/M transition of mitotic cell cycle (GO:0000086)|gamma-tubulin complex localization (GO:0033566)|mitotic cell cycle (GO:0000278)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			CCTTGGAGCCAGCTCTGTGGA	0.632																																																	0			5											64.0	62.0	63.0					5																	635610		2203	4300	6503	688610	SO:0001583	missense	55722			BC000132	CCDS34126.1	5p15.33	2014-02-20			ENSG00000112877	ENSG00000112877			25547	protein-coding gene	gene with protein product						10819331	Standard	NM_018140		Approved	KIAA1519, FLJ10565	uc003jbf.3	Q9P209	OTTHUMG00000161745	ENST00000264935.5:c.815A>G	5.37:g.635610A>G	ENSP00000264935:p.Gln272Arg		688610	B4DR26|Q9BV03|Q9BWM3|Q9NVR4	Missense_Mutation	SNP	ENST00000264935.5	37	CCDS34126.1	.	.	.	.	.	.	.	.	.	.	A	0.184	-1.059610	0.01950	.	.	ENSG00000112877	ENST00000264935	T	0.08896	3.04	4.24	-1.52	0.08637	.	0.831662	0.10377	N	0.681943	T	0.05135	0.0137	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47636	-0.9102	10	0.07325	T	0.83	-3.35	5.4897	0.16769	0.5792:0.1424:0.2784:0.0	.	272	Q9P209	CEP72_HUMAN	R	272	ENSP00000264935:Q272R	ENSP00000264935:Q272R	Q	+	2	0	CEP72	688610	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-0.134000	0.10436	-0.341000	0.08376	-0.765000	0.03448	CAG		0.632	CEP72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365967.3	NM_018140	
PRDM9	56979	hgsc.bcm.edu	37	5	23527387	23527387	+	Missense_Mutation	SNP	C	C	A	rs56256550		TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr5:23527387C>A	ENST00000296682.3	+	11	2372	c.2190C>A	c.(2188-2190)agC>agA	p.S730R		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	730					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GGGGCTTTAGCAATAAGTCAC	0.597										HNSCC(3;0.000094)																																							0			5											23.0	25.0	24.0					5																	23527387		2067	4181	6248	23563144	SO:0001583	missense	56979			AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.2190C>A	5.37:g.23527387C>A	ENSP00000296682:p.Ser730Arg		23563144	B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	C	0.029	-1.348632	0.01266	.	.	ENSG00000164256	ENST00000296682	T	0.19669	2.13	2.79	-5.57	0.02521	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10165	0.0249	L	0.27944	0.81	0.09310	N	1	P	0.47350	0.894	B	0.38880	0.284	T	0.03818	-1.1001	9	0.44086	T	0.13	.	3.9896	0.09532	0.4241:0.2776:0.0:0.2983	.	730	Q9NQV7	PRDM9_HUMAN	R	730	ENSP00000296682:S730R	ENSP00000296682:S730R	S	+	3	2	PRDM9	23563144	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-5.778000	0.00099	-2.704000	0.00397	-0.350000	0.07774	AGC		0.597	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227	
MRPS30	10884	hgsc.bcm.edu	37	5	44809451	44809451	+	Silent	SNP	C	C	T	rs372322665		TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr5:44809451C>T	ENST00000507110.1	+	1	425	c.387C>T	c.(385-387)ccC>ccT	p.P129P	RP11-53O19.1_ENST00000505637.1_RNA|RP11-53O19.1_ENST00000508945.1_RNA|RP11-53O19.1_ENST00000508123.1_RNA|RP11-53O19.1_ENST00000505302.1_RNA|RP11-53O19.1_ENST00000505401.1_RNA|RP11-53O19.1_ENST00000514597.1_RNA|RP11-53O19.1_ENST00000503179.1_RNA|RP11-53O19.1_ENST00000503452.1_RNA	NM_016640.3	NP_057724.2	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30	129					apoptotic process (GO:0006915)|translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1)	20	Lung NSC(6;8.08e-07)					agcccgagcccgaacccgaac	0.701																																																	0			5						C		0,4392		0,0,2196	13.0	15.0	14.0		387	0.2	0.0	5		14	1,8589		0,1,4294	no	coding-synonymous	MRPS30	NM_016640.3		0,1,6490	TT,TC,CC		0.0116,0.0,0.0077		129/440	44809451	1,12981	2196	4295	6491	44845208	SO:0001819	synonymous_variant	10884			AF146192	CCDS3951.1	5q11	2012-09-13		2001-11-09	ENSG00000112996	ENSG00000112996		"""Mitochondrial ribosomal proteins / small subunits"""	8769	protein-coding gene	gene with protein product		611991		PDCD9		10640817, 11279123	Standard	NM_016640		Approved	PAP	uc003joh.3	Q9NP92	OTTHUMG00000096967	ENST00000507110.1:c.387C>T	5.37:g.44809451C>T			44845208	Q96I91|Q96Q19|Q9H0P8|Q9NSF9|Q9NZ76	Silent	SNP	ENST00000507110.1	37	CCDS3951.1																																																																																				0.701	MRPS30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214033.2	NM_016640	
PARP8	79668	hgsc.bcm.edu	37	5	50091241	50091241	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr5:50091241C>T	ENST00000281631.5	+	12	1576	c.1418C>T	c.(1417-1419)tCt>tTt	p.S473F	PARP8_ENST00000505697.2_Missense_Mutation_p.S473F|PARP8_ENST00000514342.2_Missense_Mutation_p.S226F|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000514067.2_Missense_Mutation_p.S473F|PARP8_ENST00000503750.2_Missense_Mutation_p.S473F|PARP8_ENST00000505554.1_Missense_Mutation_p.S452F	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	473	Poly-Ser.					intracellular (GO:0005622)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				TCTTCATCTTCTCAGCTTGCT	0.393																																																	0			5											48.0	51.0	50.0					5																	50091241		2203	4300	6503	50126998	SO:0001583	missense	79668			AL834477	CCDS3954.1, CCDS54849.1	5q11.2	2010-02-16			ENSG00000151883	ENSG00000151883		"""Poly (ADP-ribose) polymerases"""	26124	protein-coding gene	gene with protein product						15273990	Standard	NM_001178055		Approved	FLJ21308, pART16	uc003joo.3	Q8N3A8	OTTHUMG00000096969	ENST00000281631.5:c.1418C>T	5.37:g.50091241C>T	ENSP00000281631:p.Ser473Phe		50126998	Q3KRB7|Q6DHZ1|Q9H754	Missense_Mutation	SNP	ENST00000281631.5	37	CCDS3954.1	.	.	.	.	.	.	.	.	.	.	C	12.47	1.946399	0.34377	.	.	ENSG00000151883	ENST00000505697;ENST00000503750;ENST00000514342;ENST00000281631;ENST00000514067;ENST00000505554;ENST00000503561;ENST00000423185	.	.	.	5.29	5.29	0.74685	.	0.676716	0.14351	N	0.325063	T	0.43809	0.1264	N	0.14661	0.345	0.45806	D	0.998688	B;P;B	0.34826	0.291;0.471;0.412	B;B;B	0.35278	0.087;0.199;0.133	T	0.34354	-0.9832	8	.	.	.	-6.3692	17.4702	0.87643	0.0:1.0:0.0:0.0	.	365;473;473	B4DQ81;Q8N3A8-2;Q8N3A8	.;.;PARP8_HUMAN	F	473;473;226;473;473;452;226;226	.	.	S	+	2	0	PARP8	50126998	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	2.088000	0.41663	2.601000	0.87937	0.655000	0.94253	TCT		0.393	PARP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214035.3	NM_024615	
DDX4	54514	hgsc.bcm.edu	37	5	55056042	55056042	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr5:55056042C>T	ENST00000505374.1	+	4	234	c.142C>T	c.(142-144)Cct>Tct	p.P48S	DDX4_ENST00000514278.2_Missense_Mutation_p.P48S|DDX4_ENST00000354991.5_Missense_Mutation_p.P48S|DDX4_ENST00000353507.5_Missense_Mutation_p.P48S|SLC38A9_ENST00000504880.1_Intron|DDX4_ENST00000508580.1_3'UTR	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	48					male meiosis I (GO:0007141)|multicellular organismal development (GO:0007275)|regulation of protein localization (GO:0032880)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pi-body (GO:0071546)|piP-body (GO:0071547)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)	p.P48S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				GGATGATGGACCTTCTCGAAG	0.388																																																	1	Substitution - Missense(1)	skin(1)	5											186.0	182.0	184.0					5																	55056042		2203	4300	6503	55091799	SO:0001583	missense	54514			AF262962	CCDS3969.1, CCDS47208.1, CCDS54854.1, CCDS54855.1	5p15.2-p13.1	2008-02-05	2003-06-13		ENSG00000152670	ENSG00000152670		"""DEAD-boxes"""	18700	protein-coding gene	gene with protein product		605281	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 4"""			10920202, 11850529	Standard	NM_001142549		Approved	VASA	uc003jqg.4	Q9NQI0	OTTHUMG00000097044	ENST00000505374.1:c.142C>T	5.37:g.55056042C>T	ENSP00000424838:p.Pro48Ser		55091799	A8K8Q2|B3KSF4|D6RDK4|E9PCD8|Q5M7Z3|Q86VX0|Q9NT92|Q9NYB1	Missense_Mutation	SNP	ENST00000505374.1	37	CCDS3969.1	.	.	.	.	.	.	.	.	.	.	C	10.62	1.400691	0.25291	.	.	ENSG00000152670	ENST00000353507;ENST00000514278;ENST00000505374;ENST00000506511;ENST00000506848;ENST00000514679;ENST00000354991;ENST00000511491	T;T;T;T;T;T;T	0.59364	2.03;2.0;2.08;3.5;0.41;2.03;0.27	5.04	0.0983	0.14497	.	1.085870	0.06982	N	0.820163	T	0.39384	0.1076	N	0.19112	0.55	0.23215	N	0.998103	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.06405	0.002;0.001;0.001	T	0.20739	-1.0266	10	0.24483	T	0.36	-22.046	7.4785	0.27391	0.0:0.5023:0.0:0.4977	.	48;48;48	D6RDK4;Q9NQI0-2;Q9NQI0	.;.;DDX4_HUMAN	S	48	ENSP00000334167:P48S;ENSP00000425359:P48S;ENSP00000424838:P48S;ENSP00000427167:P48S;ENSP00000424112:P48S;ENSP00000347087:P48S;ENSP00000427522:P48S	ENSP00000334167:P48S	P	+	1	0	DDX4	55091799	0.732000	0.28121	0.324000	0.25361	0.826000	0.46750	0.299000	0.19138	-0.187000	0.10516	0.563000	0.77884	CCT		0.388	DDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214147.2	NM_024415	
TMEM232	642987	hgsc.bcm.edu	37	5	109904249	109904249	+	Missense_Mutation	SNP	C	C	T	rs61734250	byFrequency	TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr5:109904249C>T	ENST00000455884.2	-	11	1404	c.1354G>A	c.(1354-1356)Gaa>Aaa	p.E452K	TMEM232_ENST00000429839.2_Missense_Mutation_p.E452K|TMEM232_ENST00000515518.2_5'UTR			C9JQI7	TM232_HUMAN	transmembrane protein 232	452						integral component of membrane (GO:0016021)				breast(1)|kidney(2)	3						TCCTGTTCTTCGTCTCCTTGA	0.363													C|||	109	0.0217652	0.0802	0.0029	5008	,	,		17280	0.0		0.001	False		,,,				2504	0.0																0			5						C	LYS/GLU	71,1313		2,67,623	443.0	343.0	373.0		1354	3.1	0.7	5	dbSNP_129	373	0,3182		0,0,1591	yes	missense	TMEM232	NM_001039763.3	56	2,67,2214	TT,TC,CC		0.0,5.1301,1.555	benign	452/658	109904249	71,4495	692	1591	2283	109932148	SO:0001583	missense	0			AK125070	CCDS47253.1, CCDS47253.2	5q22.1	2014-02-12	2009-10-02		ENSG00000186952	ENSG00000186952			37270	protein-coding gene	gene with protein product							Standard	NM_001039763		Approved	FLJ43080	uc011cvh.2	C9JQI7	OTTHUMG00000163297	ENST00000455884.2:c.1354G>A	5.37:g.109904249C>T	ENSP00000401477:p.Glu452Lys		109932148	B4DKF4	Missense_Mutation	SNP	ENST00000455884.2	37	CCDS47253.2	43	0.019688644688644688	42	0.08536585365853659	1	0.0027624309392265192	0	0.0	0	0.0	C	11.26	1.584993	0.28268	0.051301	0.0	ENSG00000186952	ENST00000429839;ENST00000455884	.	.	.	5.88	3.09	0.35607	.	0.688144	0.13800	N	0.361872	T	0.00695	0.0023	N	0.21448	0.665	0.21290	N	0.999739	B;B;B	0.27971	0.196;0.055;0.03	B;B;B	0.17722	0.019;0.011;0.007	T	0.13522	-1.0506	8	.	.	.	-3.5222	5.5928	0.17311	0.0:0.6568:0.1618:0.1814	.	452;452;334	C9JQI7;C9JQI7-2;E9PFK0	TM232_HUMAN;.;.	K	452	.	.	E	-	1	0	TMEM232	109932148	0.949000	0.32298	0.655000	0.29622	0.924000	0.55760	0.721000	0.25911	0.364000	0.24374	0.557000	0.71058	GAA		0.363	TMEM232-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372488.2	NM_001039763	
IRF1	3659	hgsc.bcm.edu	37	5	131822771	131822771	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr5:131822771T>C	ENST00000245414.4	-	4	497	c.239A>G	c.(238-240)aAc>aGc	p.N80S	IRF1_ENST00000463784.1_5'UTR|IRF1_ENST00000405885.2_Missense_Mutation_p.N80S	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	interferon regulatory factor 1	80					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell cycle arrest (GO:0007050)|cellular response to interferon-beta (GO:0035458)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cell proliferation (GO:0008285)|negative regulation of regulatory T cell differentiation (GO:0045590)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|regulation of adaptive immune response (GO:0002819)|regulation of CD8-positive, alpha-beta T cell proliferation (GO:2000564)|regulation of cell cycle (GO:0051726)|regulation of innate immune response (GO:0045088)|regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034124)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		ACAGCGAAAGTTGGCCTTCCA	0.557																																																	0			5											436.0	403.0	414.0					5																	131822771		2203	4300	6503	131850670	SO:0001583	missense	3659				CCDS4155.1	5q23-q31	2008-07-18			ENSG00000125347	ENSG00000125347			6116	protein-coding gene	gene with protein product	"""interferon regulatory factor-1"""	147575				2726461, 1680796	Standard	NM_002198		Approved	MAR	uc003kxa.2	P10914	OTTHUMG00000059497	ENST00000245414.4:c.239A>G	5.37:g.131822771T>C	ENSP00000245414:p.Asn80Ser		131850670	Q96GG7	Missense_Mutation	SNP	ENST00000245414.4	37	CCDS4155.1	.	.	.	.	.	.	.	.	.	.	T	26.7	4.761865	0.89932	.	.	ENSG00000125347	ENST00000245414;ENST00000405885;ENST00000437654;ENST00000458069	D;D;D;D	0.97976	-4.64;-4.64;-4.64;-4.64	5.7	5.7	0.88788	Winged helix-turn-helix transcription repressor DNA-binding (1);Interferon regulatory factor DNA-binding domain (4);	0.000000	0.85682	D	0.000000	D	0.99032	0.9669	M	0.93507	3.425	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.77004	0.96;0.989	D	0.99505	1.0954	10	0.72032	D	0.01	-46.2621	15.9631	0.79945	0.0:0.0:0.0:1.0	.	80;80	Q5FBX3;P10914	.;IRF1_HUMAN	S	80	ENSP00000245414:N80S;ENSP00000384406:N80S;ENSP00000405655:N80S;ENSP00000396318:N80S	ENSP00000245414:N80S	N	-	2	0	IRF1	131850670	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.036000	0.88901	2.161000	0.67846	0.533000	0.62120	AAC		0.557	IRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132340.1	NM_002198	
PCDHGA8	9708	hgsc.bcm.edu	37	5	140772810	140772810	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr5:140772810G>A	ENST00000398604.2	+	1	430	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K	PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	144	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAAATTAACGAAATCGCGGT	0.443																																																	0			5											51.0	55.0	54.0					5																	140772810		1911	4137	6048	140752994	SO:0001583	missense	9708			AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"""Cadherins / Protocadherins : Clustered"""	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.430G>A	5.37:g.140772810G>A	ENSP00000381605:p.Glu144Lys		140752994	A7MCZ4|O15039	Missense_Mutation	SNP	ENST00000398604.2	37	CCDS47291.1	.	.	.	.	.	.	.	.	.	.	.	23.8	4.455484	0.84209	.	.	ENSG00000253767	ENST00000398604	T	0.76316	-1.01	5.41	5.41	0.78517	Cadherin (3);Cadherin-like (1);	0.000000	0.31484	U	0.007564	D	0.94355	0.8185	H	0.99847	4.84	0.46437	D	0.999045	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97143	0.9826	10	0.87932	D	0	.	18.8047	0.92032	0.0:0.0:1.0:0.0	.	144;144	Q9Y5G5;Q9Y5G5-2	PCDG8_HUMAN;.	K	144	ENSP00000381605:E144K	ENSP00000381605:E144K	E	+	1	0	PCDHGA8	140752994	1.000000	0.71417	0.986000	0.45419	0.728000	0.41692	9.777000	0.99008	2.552000	0.86080	0.655000	0.94253	GAA		0.443	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376972.1	NM_032088	
EBF1	1879	hgsc.bcm.edu	37	5	158139268	158139268	+	Silent	SNP	A	A	G			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr5:158139268A>G	ENST00000313708.6	-	14	1725	c.1443T>C	c.(1441-1443)taT>taC	p.Y481Y	EBF1_ENST00000380654.4_Silent_p.Y450Y|EBF1_ENST00000517373.1_Intron|EBF1_ENST00000518836.1_5'UTR	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	481	Pro/Ser/Thr-rich.				multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|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)		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGACGGAGTTATAGTTGGTCT	0.612			T	HMGA2	lipoma																																			Dom	yes		5	5q34	1879	early B-cell factor 1		M	0			5											120.0	89.0	99.0					5																	158139268		2203	4300	6503	158071846	SO:0001819	synonymous_variant	1879			AF208502	CCDS4343.1	5q34	2008-02-05	2006-09-26	2006-09-26	ENSG00000164330	ENSG00000164330			3126	protein-coding gene	gene with protein product		164343	"""early B-cell factor"""	EBF		8012110	Standard	NM_024007		Approved	OLF1	uc010jip.3	Q9UH73	OTTHUMG00000130304	ENST00000313708.6:c.1443T>C	5.37:g.158139268A>G			158071846	Q8IW11	Silent	SNP	ENST00000313708.6	37	CCDS4343.1																																																																																				0.612	EBF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252649.1	NM_024007	
CPEB4	80315	hgsc.bcm.edu	37	5	173316925	173316925	+	Silent	SNP	T	T	C			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr5:173316925T>C	ENST00000265085.5	+	1	1643	c.189T>C	c.(187-189)ccT>ccC	p.P63P	CPEB4_ENST00000520867.1_Silent_p.P63P|CPEB4_ENST00000519835.1_Silent_p.P63P|CPEB4_ENST00000334035.5_Silent_p.P63P	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	63					cellular response to amino acid stimulus (GO:0071230)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|response to ischemia (GO:0002931)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GGCTTTTTCCTGCTCCAGCTA	0.483																																																	0			5											106.0	117.0	113.0					5																	173316925		2203	4300	6503	173249531	SO:0001819	synonymous_variant	80315			BX538213	CCDS4390.1	5q21	2013-02-12			ENSG00000113742	ENSG00000113742		"""RNA binding motif (RRM) containing"""	21747	protein-coding gene	gene with protein product		610607				11214970, 12672660	Standard	NM_030627		Approved	KIAA1673	uc003mcs.4	Q17RY0	OTTHUMG00000130541	ENST00000265085.5:c.189T>C	5.37:g.173316925T>C			173249531	B7ZLQ7|Q7Z310|Q8N405|Q9C0J0	Silent	SNP	ENST00000265085.5	37	CCDS4390.1																																																																																				0.483	CPEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252964.2	NM_030627	
SPCS2	9789	hgsc.bcm.edu	37	11	74660292	74660292	+	5'UTR	SNP	A	A	G	rs643807	byFrequency	TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr11:74660292A>G	ENST00000263672.6	+	0	1				SPCS2_ENST00000526361.1_5'Flank|XRRA1_ENST00000533598.1_5'Flank|SPCS2_ENST00000530257.1_5'Flank|XRRA1_ENST00000321448.8_5'Flank|XRRA1_ENST00000340360.6_5'Flank|XRRA1_ENST00000527087.1_5'Flank	NM_014752.2	NP_055567.2	Q15005	SPCS2_HUMAN	signal peptidase complex subunit 2 homolog (S. cerevisiae)						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of insulin secretion (GO:0050796)|signal peptide processing (GO:0006465)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|signal peptidase complex (GO:0005787)	peptidase activity (GO:0008233)			breast(1)	1						AATCGGCTTCAGACAAGTCGG	0.657													A|||	1405	0.280551	0.1437	0.2334	5008	,	,		17597	0.2262		0.4264	False		,,,				2504	0.4049																0			11						A		253,1131		19,215,458	39.0	54.0	49.0			-8.1	0.1	11	dbSNP_83	49	1369,1813		282,805,504	yes	utr-5	SPCS2	NM_014752.2		301,1020,962	GG,GA,AA		43.0233,18.2803,35.5234			74660292	1622,2944	692	1591	2283	74337940	SO:0001623	5_prime_UTR_variant	9789			D14658	CCDS44681.1	11q13.4	2008-02-05			ENSG00000118363	ENSG00000118363			28962	protein-coding gene	gene with protein product						7788527	Standard	NM_014752		Approved	KIAA0102	uc001ovu.2	Q15005	OTTHUMG00000165517	ENST00000263672.6:c.-39A>G	11.37:g.74660292A>G			74337940	Q15507|Q3KQT0|Q641R4|Q6FG65|Q6IRX0|Q6P1P4|Q96HU9	Splice_Site	SNP	ENST00000263672.6	37	CCDS44681.1																																																																																				0.657	SPCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384587.1	NM_014752	
DRD3	1814	hgsc.bcm.edu	37	3	113878601	113878601	+	Splice_Site	SNP	C	C	T			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr3:113878601C>T	ENST00000460779.1	-	4	673		c.e4+1		DRD3_ENST00000295881.7_Splice_Site|DRD3_ENST00000467632.1_Splice_Site|DRD3_ENST00000383673.2_Splice_Site	NM_001282563.1	NP_001269492.1	P35462	DRD3_HUMAN	dopamine receptor D3						acid secretion (GO:0046717)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|arachidonic acid secretion (GO:0050482)|behavioral response to cocaine (GO:0048148)|cellular calcium ion homeostasis (GO:0006874)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric emptying (GO:0035483)|learning (GO:0007612)|learning or memory (GO:0007611)|locomotory behavior (GO:0007626)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of sodium:proton antiporter activity (GO:0032416)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of mitosis (GO:0045840)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of cAMP metabolic process (GO:0030814)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|regulation of dopamine secretion (GO:0014059)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of lipid metabolic process (GO:0019216)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of multicellular organism growth (GO:0040014)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to morphine (GO:0043278)|social behavior (GO:0035176)|synaptic transmission, dopaminergic (GO:0001963)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|cell projection (GO:0042995)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Amisulpride(DB06288)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Domperidone(DB01184)|Dopamine(DB00988)|Haloperidol(DB00502)|Iloperidone(DB04946)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pimozide(DB01100)|Pramipexole(DB00413)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sulpiride(DB00391)|Yohimbine(DB01392)|Ziprasidone(DB00246)	TGCAGCCCTACCTGTCTATGC	0.507																																																	0			3											104.0	92.0	96.0					3																	113878601		2203	4300	6503	115361291	SO:0001630	splice_region_variant	1814				CCDS2978.1, CCDS33829.1	3q13.3	2012-08-08			ENSG00000151577	ENSG00000151577		"""GPCR / Class A : Dopamine receptors"""	3024	protein-coding gene	gene with protein product		126451				1916765	Standard	XM_005247171		Approved		uc003ebc.1	P35462	OTTHUMG00000159334	ENST00000460779.1:c.383+1G>A	3.37:g.113878601C>T			115361291	A1A4V5|Q4VBM8	Splice_Site	SNP	ENST00000460779.1	37	CCDS2978.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.217108	0.79352	.	.	ENSG00000151577	ENST00000460779;ENST00000467632;ENST00000383673;ENST00000281274;ENST00000295881	.	.	.	4.58	4.58	0.56647	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2952	0.82767	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DRD3	115361291	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.301000	0.78850	2.384000	0.81235	0.555000	0.69702	.		0.507	DRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354699.1	NM_000796.3	Intron
RPTN	126638	hgsc.bcm.edu	37	1	152129066	152129101	+	In_Frame_Del	DEL	TGGTGGGAATCTCTGTCTTGTTTCTCAGACTGACCA	TGGTGGGAATCTCTGTCTTGTTTCTCAGACTGACCA	-	rs369805852|rs78544048|rs375710188|rs368770198|rs200003389|rs117596468|rs76015112|rs199889562	byFrequency	TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	TGGTGGGAATCTCTGTCTTGTTTCTCAGACTGACCA	TGGTGGGAATCTCTGTCTTGTTTCTCAGACTGACCA					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr1:152129066_152129101delTGGTGGGAATCTCTGTCTTGTTTCTCAGACTGACCA	ENST00000316073.3	-	3	538_573	c.474_509delTGGTCAGTCTGAGAAACAAGACAGAGATTCCCACCA	c.(472-510)catggtcagtctgagaaacaagacagagattcccaccac>cac	p.158_170HGQSEKQDRDSHH>H		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	158	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.G159_H170delGQSEKQDRDSHH(1)|p.S168>?(1)		breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						AGGCTGACTGTGGTGGGAATCTCTGTCTTGTTTCTCAGACTGACCATGGTGGGAAT	0.492																																																	2	Complex(1)|Deletion - In frame(1)	stomach(1)|skin(1)	1																																								150395725	SO:0001651	inframe_deletion	126638			AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"""EF-hand domain containing"""	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.474_509delTGGTCAGTCTGAGAAACAAGACAGAGATTCCCACCA	1.37:g.152129066_152129101delTGGTGGGAATCTCTGTCTTGTTTCTCAGACTGACCA	ENSP00000317895:p.His158_His169del		150395690	B7ZBZ3	In_Frame_Del	DEL	ENST00000316073.3	37	CCDS41397.1																																																																																				0.492	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312	
FMN2	56776	hgsc.bcm.edu	37	1	240370914	240370946	+	In_Frame_Del	DEL	GCCCCCTCTACCCGGAGCGGGAATACCTCCTCC	GCCCCCTCTACCCGGAGCGGGAATACCTCCTCC	-	rs199628038|rs193049501|rs562038978|rs141094573|rs4997328|rs4997329|rs188083977|rs145628188|rs71170718|rs371697625	byFrequency	TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	GCCCCCTCTACCCGGAGCGGGAATACCTCCTCC	GCCCCCTCTACCCGGAGCGGGAATACCTCCTCC					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr1:240370914_240370946delGCCCCCTCTACCCGGAGCGGGAATACCTCCTCC	ENST00000319653.9	+	5	3032_3064	c.2802_2834delGCCCCCTCTACCCGGAGCGGGAATACCTCCTCC	c.(2800-2835)ctgccccctctacccggagcgggaatacctcctccg>ctg	p.PPLPGAGIPPP935del		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	935	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.G1082R(1)|p.P1081P(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TACTCCCTCTGCCCCCTCTACCCGGAGCGGGAATACCTCCTCCGCCCCCTCTA	0.678																																																	2	Substitution - Missense(1)|Substitution - coding silent(1)	large_intestine(1)|lung(1)	1								1432,2834		223,986,924						0.9	0.0		dbSNP_114	42	2115,6135		277,1561,2287	no	coding	FMN2	NM_020066.4		500,2547,3211	A1A1,A1R,RR		25.6364,33.5677,28.3397				3547,8969				238437569	SO:0001651	inframe_deletion	56776			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.2802_2834delGCCCCCTCTACCCGGAGCGGGAATACCTCCTCC	1.37:g.240370914_240370946delGCCCCCTCTACCCGGAGCGGGAATACCTCCTCC	ENSP00000318884:p.Pro935_Pro945del		238437537	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	In_Frame_Del	DEL	ENST00000319653.9	37	CCDS31069.2																																																																																				0.678	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352	
PTRHD1	391356	hgsc.bcm.edu	37	2	25016051	25016078	+	Frame_Shift_Del	DEL	GGTGGTCGCGGTGAGTGTGCAAGGCCGC	GGTGGTCGCGGTGAGTGTGCAAGGCCGC	-	rs374244884|rs140217300|rs553276736|rs555151619	byFrequency	TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	GGTGGTCGCGGTGAGTGTGCAAGGCCGC	GGTGGTCGCGGTGAGTGTGCAAGGCCGC					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr2:25016051_25016078delGGTGGTCGCGGTGAGTGTGCAAGGCCGC	ENST00000328379.5	-	1	173_200	c.169_196delGCGGCCTTGCACACTCACCGCGACCACC	c.(169-198)gcggccttgcacactcaccgcgaccacccgfs	p.AALHTHRDHP57fs	CENPO_ENST00000473706.1_5'UTR|PTRHD1_ENST00000487316.1_5'Flank|CENPO_ENST00000260662.1_5'Flank|CENPO_ENST00000380834.2_5'UTR	NM_001013663.1	NP_001013685.1	Q6GMV3	PTRD1_HUMAN	peptidyl-tRNA hydrolase domain containing 1	57						extracellular vesicular exosome (GO:0070062)	aminoacyl-tRNA hydrolase activity (GO:0004045)	p.H62Y(1)		autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|skin(1)	6						GCTGTGTGCGGGTGGTCGCGGTGAGTGTGCAAGGCCGCGGTGGCCGCG	0.645														3	0.000599042	0.0023	0.0	5008	,	,		17592	0.0		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	lung(1)	2																																								24869582	SO:0001589	frameshift_variant	391356				CCDS33156.1	2p23.3	2011-05-09	2011-05-09	2011-05-09	ENSG00000184924	ENSG00000184924			33782	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 79"""	C2orf79		12477932	Standard	NM_001013663		Approved	LOC391356	uc002rfm.3	Q6GMV3	OTTHUMG00000151978	ENST00000328379.5:c.169_196delGCGGCCTTGCACACTCACCGCGACCACC	2.37:g.25016051_25016078delGGTGGTCGCGGTGAGTGTGCAAGGCCGC	ENSP00000330389:p.Ala57fs		24869555		Frame_Shift_Del	DEL	ENST00000328379.5	37	CCDS33156.1																																																																																				0.645	PTRHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324626.3	NM_001013663	
TOPBP1	11073	hgsc.bcm.edu	37	3	133374273	133374276	+	Frame_Shift_Del	DEL	AAGA	AAGA	-	rs374437816	byFrequency	TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	AAGA	AAGA					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr3:133374273_133374276delAAGA	ENST00000260810.5	-	6	731_734	c.600_603delTCTT	c.(598-603)tttcttfs	p.FL200fs	TOPBP1_ENST00000511439.1_5'UTR	NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	200	BRCT 2. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cellular response to DNA damage stimulus (GO:0006974)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						TTATGCAACCAAGAAAAATAGGAC	0.338								Other conserved DNA damage response genes																													Ovarian(21;193 658 4424 15423 17362)												0			3																																								134856966	SO:0001589	frameshift_variant	11073			AB019397	CCDS46919.1	3q22.1	2004-06-21			ENSG00000163781	ENSG00000163781			17008	protein-coding gene	gene with protein product		607760				9461304, 9039502	Standard	NM_007027		Approved	KIAA0259, TOP2BP1	uc003eps.3	Q92547	OTTHUMG00000159773	ENST00000260810.5:c.600_603delTCTT	3.37:g.133374273_133374276delAAGA	ENSP00000260810:p.Phe200fs		134856963	B7Z7W8|Q7LGC1|Q9UEB9	Frame_Shift_Del	DEL	ENST00000260810.5	37	CCDS46919.1																																																																																				0.338	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357254.1	NM_007027	
DNAH5	1767	hgsc.bcm.edu	37	5	13866368	13866369	+	Frame_Shift_Ins	INS	-	-	A	rs201366196		TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr5:13866368_13866369insA	ENST00000265104.4	-	26	4180_4181	c.4076_4077insT	c.(4075-4077)ttgfs	p.L1359fs	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1359	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCTGGGGCTTCAAGCCGCTAGC	0.332									Kartagener syndrome																																								0			5																																								13919369	SO:0001589	frameshift_variant	1767	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.4077dupT	5.37:g.13866370_13866370dupA	ENSP00000265104:p.Leu1359fs		13919368	Q92860|Q96L74|Q9H5S7|Q9HCG9	Frame_Shift_Ins	INS	ENST00000265104.4	37	CCDS3882.1																																																																																				0.332	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	
APC	324	hgsc.bcm.edu	37	5	112170821	112170824	+	Frame_Shift_Del	DEL	ACGG	ACGG	-			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	ACGG	ACGG					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr5:112170821_112170824delACGG	ENST00000457016.1	+	15	2297_2300	c.1917_1920delACGG	c.(1915-1920)ttacggfs	p.LR639fs	APC_ENST00000508376.2_Frame_Shift_Del_p.LR639fs|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Frame_Shift_Del_p.LR639fs			P25054	APC_HUMAN	adenomatous polyposis coli	639	Leu-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.N641fs*5(1)|p.R640W(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GTGGGATATTACGGAATGTGTCCA	0.377		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	3	Substitution - Missense(1)|Unknown(1)|Deletion - Frameshift(1)	thyroid(1)|large_intestine(1)|skin(1)	5	GRCh37	CD991576|CI972531|CS090535	APC	D|I|S																																				112198723	SO:0001589	frameshift_variant	324	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.1917_1920delACGG	5.37:g.112170821_112170824delACGG	ENSP00000413133:p.Leu639fs		112198720	D3DT03|Q15162|Q15163|Q93042	Frame_Shift_Del	DEL	ENST00000457016.1	37	CCDS4107.1																																																																																				0.377	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
KIAA1217	56243	hgsc.bcm.edu	37	10	24809079	24809081	+	In_Frame_Del	DEL	GAA	GAA	-	rs543352000	byFrequency	TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	GAA	GAA					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr10:24809079_24809081delGAA	ENST00000376454.3	+	11	2235_2237	c.2205_2207delGAA	c.(2203-2208)ttgaag>ttg	p.K737del	KIAA1217_ENST00000396446.1_In_Frame_Del_p.K420del|KIAA1217_ENST00000376462.1_In_Frame_Del_p.K657del|KIAA1217_ENST00000430453.2_Intron|KIAA1217_ENST00000458595.1_In_Frame_Del_p.K702del|KIAA1217_ENST00000307544.6_In_Frame_Del_p.K420del|KIAA1217_ENST00000376451.2_In_Frame_Del_p.K420del|KIAA1217_ENST00000376452.3_In_Frame_Del_p.K702del|KIAA1217_ENST00000396445.1_In_Frame_Del_p.K420del	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	737					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						TTGAAGACTTGAAGAAGGACTCC	0.567														4	0.000798722	0.003	0.0	5008	,	,		17393	0.0		0.0	False		,,,				2504	0.0																0			10							,,	47,4217		17,13,2102					,,	4.9	0.9			139	30,8224		15,0,4112	no	coding,coding,coding	KIAA1217	NM_019590.3,NM_001098501.1,NM_001098500.1	,,	32,13,6214	A1A1,A1R,RR		0.3635,1.1023,0.6151	,,	,,		77,12441				24849087	SO:0001651	inframe_deletion	56243			BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.2205_2207delGAA	10.37:g.24809082_24809084delGAA	ENSP00000365637:p.Lys737del		24849085	A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	In_Frame_Del	DEL	ENST00000376454.3	37	CCDS31165.1																																																																																				0.567	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590	
CTBP2	1488	hgsc.bcm.edu	37	10	126727615	126727615	+	Frame_Shift_Del	DEL	A	A	-	rs144283283		TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr10:126727615delA	ENST00000337195.5	-	3	408	c.9delT	c.(7-9)cttfs	p.L3fs	CTBP2_ENST00000531469.1_Frame_Shift_Del_p.L3fs|CTBP2_ENST00000494626.2_Frame_Shift_Del_p.L3fs|CTBP2_ENST00000476817.1_5'UTR|CTBP2_ENST00000411419.2_Frame_Shift_Del_p.L3fs	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2	3					negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		GCTTATCCACAAGGGCCATTC	0.458																																																	0			10											114.0	105.0	108.0					10																	126727615		2203	4300	6503	126717605	SO:0001589	frameshift_variant	1488			AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.9delT	10.37:g.126727615delA	ENSP00000338615:p.Leu3fs		126717605	A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Frame_Shift_Del	DEL	ENST00000337195.5	37	CCDS7643.1																																																																																				0.458	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050900.3	NM_001083914	
CDHR5	53841	hgsc.bcm.edu	37	11	618971	618971	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr11:618971delG	ENST00000358353.3	-	14	1910	c.1588delC	c.(1588-1590)cacfs	p.H530fs	CDHR5_ENST00000397542.2_Frame_Shift_Del_p.H530fs|IRF7_ENST00000397574.2_5'Flank|CDHR5_ENST00000349570.7_Intron|IRF7_ENST00000397570.1_5'Flank			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	530					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						GCTGGTTGGTGGGAGGTGCTG	0.672																																																	0			11											72.0	87.0	82.0					11																	618971		2203	4300	6503	608971	SO:0001589	frameshift_variant	0			AF258675	CCDS7707.1, CCDS7708.1	11p15.5	2011-07-01	2010-01-25	2010-01-25	ENSG00000099834	ENSG00000099834		"""Cadherins / Cadherin-related"""	7521	protein-coding gene	gene with protein product		606839	"""mucin and cadherin-like"", ""mucin-like protocadherin"""	MUCDHL, MUPCDH		11031102, 10801787	Standard	NM_021924		Approved	FLJ20219, MU-PCDH	uc001lqj.3	Q9HBB8	OTTHUMG00000132018	ENST00000358353.3:c.1588delC	11.37:g.618971delG	ENSP00000351118:p.His530fs		608971	C9J7X1|Q9H746|Q9HAU3|Q9HBB5|Q9HBB6|Q9HBB7|Q9NX86|Q9NXI9	Frame_Shift_Del	DEL	ENST00000358353.3	37	CCDS7707.1																																																																																				0.672	CDHR5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255023.2	NM_021924	
MUC2	4583	hgsc.bcm.edu	37	11	1092802	1092802	+	Frame_Shift_Del	DEL	A	A	-	rs528672869|rs534872608	byFrequency	TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr11:1092802delA	ENST00000441003.2	+	30	4648	c.4621delA	c.(4621-4623)accfs	p.T1545fs	MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000359061.5_Frame_Shift_Del_p.T1546fs|MUC2_ENST00000361558.6_Intron	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)	cactcccatcaccaccaccac	0.627													|||unknown(ALL_OTHER_Ns)	1941	0.38758	0.3911	0.3876	5008	,	,		6166	0.3403		0.3777	False		,,,				2504	0.4417																0			11											25.0	50.0	41.0					11																	1092802		1636	2920	4556	1082802	SO:0001589	frameshift_variant	4583			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.4621delA	11.37:g.1092802delA	ENSP00000415183:p.Thr1545fs		1082802	Q14878	Frame_Shift_Del	DEL	ENST00000441003.2	37																																																																																					0.627	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457	
ART5	116969	hgsc.bcm.edu	37	11	3661585	3661586	+	In_Frame_Ins	INS	-	-	TGG	rs80248801|rs3062849|rs397784566|rs33994425|rs72515796	byFrequency	TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr11:3661585_3661586insTGG	ENST00000397068.3	-	2	465_466	c.73_74insCCA	c.(73-75)atc>aCCAtc	p.24_25insT	ART5_ENST00000397067.3_In_Frame_Ins_p.24_25insT|ART5_ENST00000359918.4_In_Frame_Ins_p.24_25insT|TRPC2_ENST00000526541.1_RNA	NM_053017.3	NP_443750.2	Q96L15	NAR5_HUMAN	ADP-ribosyltransferase 5	24			P -> PT (in dbSNP:rs72515796). {ECO:0000269|PubMed:12070318, ECO:0000269|PubMed:12975309, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.4}.		protein ADP-ribosylation (GO:0006471)	extracellular region (GO:0005576)|membrane (GO:0016020)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|NAD+ nucleosidase activity (GO:0003953)			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)	11		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGGGGCAGGATGGGAACAGCC	0.569														4845	0.967452	0.8828	0.9914	5008	,	,		17488	1.0		0.999	False		,,,				2504	0.999																0			11							,	3654,406		1675,304,51					,	5.0	1.0		dbSNP_102	24	7782,12		3887,8,2	no	coding,coding	ART5	NM_053017.3,NM_001079536.1	,	5562,312,53	A1A1,A1R,RR		0.154,10.0,3.5262	,	,		11436,418				3618162	SO:0001652	inframe_insertion	116969			Y16835	CCDS7743.1, CCDS73242.1	11p15.4	2008-02-05			ENSG00000167311	ENSG00000167311			24049	protein-coding gene	gene with protein product		610625				11587854, 10448534	Standard	NM_001079536		Approved		uc001lyb.1	Q96L15	OTTHUMG00000011842	ENST00000397068.3:c.71_73dupCCA	11.37:g.3661586_3661588dupTGG	ENSP00000380258:p.Pro24_Ile25insThr		3618161	C9IYG7|Q6UX84|Q86W02	In_Frame_Ins	INS	ENST00000397068.3	37	CCDS7743.1																																																																																				0.569	ART5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032760.2	NM_053017	
ORAI1	84876	hgsc.bcm.edu	37	12	122064774	122064779	+	In_Frame_Del	DEL	CCGCCA	CCGCCA	-	rs141919534|rs531278468		TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	CCGCCA	CCGCCA					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr12:122064774_122064779delCCGCCA	ENST00000330079.7	+	1	320_325	c.127_132delCCGCCA	c.(127-132)ccgccadel	p.PP47del		NM_032790.3	NP_116179	Q96D31	CRCM1_HUMAN	ORAI calcium release-activated calcium modulator 1	0	Pro-rich.				blood coagulation (GO:0007596)|immune system process (GO:0002376)|positive regulation of calcium ion transport (GO:0051928)|regulation of calcium ion transport (GO:0051924)|store-operated calcium entry (GO:0002115)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|store-operated calcium channel activity (GO:0015279)	p.P43_P44delPP(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148)		cccgggggccccgccaccgccaccgc	0.748														5007	0.9998	1.0	1.0	5008	,	,		5795	1.0		1.0	False		,,,				2504	0.999																1	Deletion - In frame(1)	breast(1)	12																																								120549162	SO:0001651	inframe_deletion	84876			AK027372		12q24.31	2014-09-17	2007-08-14	2007-08-14	ENSG00000182500	ENSG00000276045		"""ORAI calcium release-activated calcium modulators"""	25896	protein-coding gene	gene with protein product	"""calcium release-activated calcium modulator 1"""	610277	"""transmembrane protein 142A"""	TMEM142A		16582901	Standard	NM_032790		Approved	FLJ14466, CRACM1	uc021rff.1	Q96D31		ENST00000330079.7:c.127_132delCCGCCA	12.37:g.122064780_122064785delCCGCCA	ENSP00000328216:p.Pro47_Pro48del		120549157	Q3MHV3|Q6DHX2|Q96BP7|Q96K71	In_Frame_Del	DEL	ENST00000330079.7	37	CCDS41851.1																																																																																				0.748	ORAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402151.1	NM_032790	
RIN3	79890	hgsc.bcm.edu	37	14	93154538	93154540	+	In_Frame_Del	DEL	GGC	GGC	-	rs71461983|rs570458246|rs68153141|rs71698059	byFrequency	TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	GGC	GGC					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr14:93154538_93154540delGGC	ENST00000216487.7	+	10	3058_3060	c.2899_2901delGGC	c.(2899-2901)ggcdel	p.G972del	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	972	Poly-Gly.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)	GTPase activator activity (GO:0005096)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				GGACGGTGGTGGCGGCGGCGGCG	0.739																																																	0			14								2780,766		1192,396,185							0.4		dbSNP_130	12	4625,2291		1742,1141,575	no	coding	RIN3	NM_024832.3		2934,1537,760	A1A1,A1R,RR		33.1261,21.6018,29.22				7405,3057				92224293	SO:0001651	inframe_deletion	79890			BC025248	CCDS32144.1	14q32.13	2008-08-29				ENSG00000100599			18751	protein-coding gene	gene with protein product		610223				11733506	Standard	NM_024832		Approved	FLJ22439	uc001yap.3	Q8TB24		ENST00000216487.7:c.2899_2901delGGC	14.37:g.93154547_93154549delGGC	ENSP00000216487:p.Gly972del		92224291	Q76LB3|Q8NF30|Q8TEE8|Q8WYP4|Q9H6A5|Q9HAG1	In_Frame_Del	DEL	ENST00000216487.7	37	CCDS32144.1																																																																																				0.739	RIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412269.1		
MSLNL	401827	hgsc.bcm.edu	37	16	830710	830732	+	Intron	DEL	GGGTAGGTGACAGCTGTGTGCAC	GGGTAGGTGACAGCTGTGTGCAC	-	rs199603320|rs377530828|rs200443343	byFrequency	TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	GGGTAGGTGACAGCTGTGTGCAC	GGGTAGGTGACAGCTGTGTGCAC					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr16:830710_830732delGGGTAGGTGACAGCTGTGTGCAC	ENST00000442466.1	-	2	37				MSLNL_ENST00000293892.3_Frame_Shift_Del_p.RAHSCHLP90fs			Q96KJ4	MSLNL_HUMAN	mesothelin-like						cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						CAGTGTGCATGGGTAGGTGACAGCTGTGTGCACGGGTAGGTGA	0.583																																																	0			16																																								770733	SO:0001627	intron_variant	401827					16p13.3	2008-08-06	2008-07-04	2008-07-04	ENSG00000162006	ENSG00000162006			14170	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 37"""	C16orf37			Standard	NG_032123		Approved	MPFL		Q96KJ4		ENST00000442466.1:c.38-548GTGCACACAGCTGTCACCTACCC>-	16.37:g.830710_830732delGGGTAGGTGACAGCTGTGTGCAC			770711		Frame_Shift_Del	DEL	ENST00000442466.1	37																																																																																					0.583	MSLNL-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001025190	
TOX3	27324	hgsc.bcm.edu	37	16	52473381	52473383	+	In_Frame_Del	DEL	TGC	TGC	-	rs376306249		TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	TGC	TGC					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr16:52473381_52473383delTGC	ENST00000219746.9	-	7	1769_1771	c.1485_1487delGCA	c.(1483-1488)cagcat>cat	p.Q495del	TOX3_ENST00000407228.3_In_Frame_Del_p.Q490del	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	495	Gln-rich.				apoptotic process (GO:0006915)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)			NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						ctgctggagatgctgctgctgct	0.567																																																	0			16							,	29,3881		2,25,1928					,	-11.0	0.0			19	64,7602		8,48,3777	no	coding,coding	TOX3	NM_001146188.1,NM_001080430.2	,	10,73,5705	A1A1,A1R,RR		0.8349,0.7417,0.8034	,	,		93,11483				51030884	SO:0001651	inframe_deletion	27324			U80736	CCDS54008.1, CCDS54009.1	16q12.1	2008-02-05	2007-03-20	2007-03-20		ENSG00000103460		"""Trinucleotide (CAG) repeat containing"""	11972	protein-coding gene	gene with protein product		611416	"""trinucleotide repeat containing 9"""	TNRC9		9225980	Standard	NM_001080430		Approved	CAGF9	uc002egw.2	O15405		ENST00000219746.9:c.1485_1487delGCA	16.37:g.52473390_52473392delTGC	ENSP00000219746:p.Gln495del		51030882	B4DRD0|B5MCW4	In_Frame_Del	DEL	ENST00000219746.9	37	CCDS54009.1																																																																																				0.567	TOX3-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000422534.1	XM_049037	
SCARF1	8578	hgsc.bcm.edu	37	17	1548956	1548957	+	In_Frame_Ins	INS	-	-	AGC	rs142617742|rs371158488	byFrequency	TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr17:1548956_1548957insAGC	ENST00000263071.4	-	1	84_85	c.35_36insGCT	c.(34-36)ctc>ctGCTc	p.12_12L>LL	SCARF1_ENST00000348987.3_In_Frame_Ins_p.12_12L>LL|SCARF1_ENST00000571272.1_In_Frame_Ins_p.12_12L>LL|SCARF1_ENST00000574545.1_5'Flank	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1	12					cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|dendrite development (GO:0016358)|neuron remodeling (GO:0016322)|positive regulation of axon regeneration (GO:0048680)|positive regulation of neuron projection development (GO:0010976)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CCCGAGTCCAGAGCAGCAGCAG	0.698														199	0.0397364	0.0741	0.0115	5008	,	,		16590	0.001		0.0199	False		,,,				2504	0.0736																0			17							,,	296,3916		17,262,1827					,,	4.0	0.8		dbSNP_119	19	149,8047		4,141,3953	no	coding,coding,coding	SCARF1	NM_145352.2,NM_145350.1,NM_003693.2	,,	21,403,5780	A1A1,A1R,RR		1.818,7.0275,3.5864	,,	,,		445,11963				1495707	SO:0001652	inframe_insertion	8578			D63483	CCDS11007.1, CCDS45564.1	17p13.3	2008-07-18			ENSG00000074660	ENSG00000074660			16820	protein-coding gene	gene with protein product	"""scavenger receptor expressed by endothelial cells"", ""acetyl LDL receptor"""	607873				9395444, 8590280	Standard	NM_003693		Approved	SREC, KIAA0149	uc002fsz.2	Q14162	OTTHUMG00000090555	ENST00000263071.4:c.33_35dupGCT	17.37:g.1548963_1548965dupAGC	ENSP00000263071:p.Leu12dup		1495706	A8MQ05|O43701|Q8NHD2|Q8NHD3|Q8NHD4|Q8NHD5	In_Frame_Ins	INS	ENST00000263071.4	37	CCDS11007.1																																																																																				0.698	SCARF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207081.4	NM_003693	
JMJD6	23210	hgsc.bcm.edu	37	17	74721622	74721623	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr17:74721622_74721623insT	ENST00000397625.4	-	2	558_559	c.444_445insA	c.(442-447)gaagacfs	p.D149fs	JMJD6_ENST00000445478.2_Frame_Shift_Ins_p.D149fs|JMJD6_ENST00000585429.1_Frame_Shift_Ins_p.D149fs|METTL23_ENST00000586738.1_5'Flank|METTL23_ENST00000586200.1_5'Flank|METTL23_ENST00000591571.1_5'Flank|METTL23_ENST00000586752.1_5'Flank|METTL23_ENST00000588302.1_5'Flank|METTL23_ENST00000588822.1_5'Flank|METTL23_ENST00000590964.1_5'Flank|METTL23_ENST00000588783.1_5'Flank|METTL23_ENST00000589977.1_5'Flank|METTL23_ENST00000341249.6_5'Flank	NM_015167.2	NP_055982.2	Q6NYC1	JMJD6_HUMAN	jumonji domain containing 6	149	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				cell surface receptor signaling pathway (GO:0007166)|erythrocyte development (GO:0048821)|heart development (GO:0007507)|histone H3-R2 demethylation (GO:0070078)|histone H4-R3 demethylation (GO:0070079)|kidney development (GO:0001822)|lung development (GO:0030324)|macrophage activation (GO:0042116)|mRNA processing (GO:0006397)|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine (GO:0018395)|recognition of apoptotic cell (GO:0043654)|regulation of mRNA splicing, via spliceosome (GO:0048024)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|RNA splicing (GO:0008380)|sprouting angiogenesis (GO:0002040)|T cell differentiation in thymus (GO:0033077)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone demethylase activity (H3-R2 specific) (GO:0033746)|histone demethylase activity (H4-R3 specific) (GO:0033749)|identical protein binding (GO:0042802)|iron ion binding (GO:0005506)|peptidyl-lysine 5-dioxygenase activity (GO:0070815)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			endometrium(2)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|skin(2)	16						ACCTTGTAGTCTTCCAAAAGTT	0.446																																																	0			17																																								72233218	SO:0001589	frameshift_variant	23210			AB011157	CCDS42383.1, CCDS42384.1	17q25	2007-11-20	2007-02-16	2007-02-16	ENSG00000070495	ENSG00000070495			19355	protein-coding gene	gene with protein product		604914	"""phosphatidylserine receptor"""	PTDSR		11877474	Standard	NM_015167		Approved	PTDSR1, KIAA0585	uc002jsn.1	Q6NYC1	OTTHUMG00000169267	ENST00000397625.4:c.445dupA	17.37:g.74721624_74721624dupT	ENSP00000380750:p.Asp149fs		72233217	B3KMN8|B4DGX1|Q86VY0|Q8IUM5|Q9Y4E2	Frame_Shift_Ins	INS	ENST00000397625.4	37	CCDS42384.1																																																																																				0.446	JMJD6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403211.1	NM_015167	
UNC13A	23025	hgsc.bcm.edu	37	19	17731512	17731513	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr19:17731512_17731513insT	ENST00000519716.2	-	38	4260_4261	c.4261_4262insA	c.(4261-4263)agcfs	p.S1421fs	UNC13A_ENST00000551649.1_Frame_Shift_Ins_p.S1421fs|UNC13A_ENST00000552293.1_Intron|UNC13A_ENST00000550896.1_Intron|UNC13A_ENST00000252773.7_Frame_Shift_Ins_p.S1421fs|UNC13A_ENST00000428389.2_Frame_Shift_Ins_p.S1509fs	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1421	MHD2. {ECO:0000255|PROSITE- ProRule:PRU00588}.				beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GTCTGAGTGGCTTGGCAATTTC	0.609																																																	0			19																																								17592513	SO:0001589	frameshift_variant	23025			AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.4262dupA	19.37:g.17731514_17731514dupT	ENSP00000429562:p.Ser1421fs		17592512	E5RHY9	Frame_Shift_Ins	INS	ENST00000519716.2	37	CCDS46013.2																																																																																				0.609	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604	
CYP2A6	1548	hgsc.bcm.edu	37	19	41354170	41354170	+	Frame_Shift_Del	DEL	C	C	-	rs145393137|rs28399445	byFrequency	TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr19:41354170delC	ENST00000301141.5	-	4	628	c.608delG	c.(607-609)cgcfs	p.R203fs	CTC-490E21.12_ENST00000601627.1_Intron	NM_000762.5	NP_000753	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 6	203			R -> C (in allele CYP2A6*23; greatly reduced activity toward nicotine C- oxidation as well as reduced coumarin 7- hydroxylation; dbSNP:rs56256500). {ECO:0000269|PubMed:18216723, ECO:0000269|Ref.6}.|R -> S (in allele CYP2A6*16; dbSNP:rs56256500). {ECO:0000269|PubMed:15618701, ECO:0000269|PubMed:18216723}.		coumarin catabolic process (GO:0046226)|coumarin metabolic process (GO:0009804)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum membrane (GO:0005789)	coumarin 7-hydroxylase activity (GO:0008389)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Acetaminophen(DB00316)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amobarbital(DB01351)|Amphetamine(DB00182)|Antipyrine(DB01435)|Arformoterol(DB01274)|Azelastine(DB00972)|Azithromycin(DB00207)|Buprenorphine(DB00921)|Bupropion(DB01156)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Cisapride(DB00604)|Clofibrate(DB00636)|Clomifene(DB00882)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Dapagliflozin(DB06292)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Diethylstilbestrol(DB00255)|Dronabinol(DB00470)|Eletriptan(DB00216)|Ezogabine(DB04953)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Flurazepam(DB00690)|Fomepizole(DB01213)|Formoterol(DB00983)|Halothane(DB01159)|Ifosfamide(DB01181)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Letrozole(DB01006)|Lidocaine(DB00281)|Lorcaserin(DB04871)|Memantine(DB01043)|Menadione(DB00170)|Methimazole(DB00763)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Miconazole(DB01110)|Montelukast(DB00471)|Nevirapine(DB00238)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Norfloxacin(DB01059)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Prednisolone(DB00860)|Progesterone(DB00396)|Propofol(DB00818)|Rifampicin(DB01045)|Rosiglitazone(DB00412)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tranylcypromine(DB00752)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Zidovudine(DB00495)	TAGCATCATGCGCAACAGTGA	0.562																																																	0			19											173.0	150.0	158.0					19																	41354170		2203	4300	6503	46046010	SO:0001589	frameshift_variant	1548			AF182275	CCDS12568.1	19q13.2	2013-11-11	2003-01-14		ENSG00000255974	ENSG00000255974		"""Cytochrome P450s"""	2610	protein-coding gene	gene with protein product		122720	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 6"""	CYP2A3		7668294, 2748347	Standard	NM_000762		Approved	CPA6, CYP2A	uc002opl.4	P11509	OTTHUMG00000182713	ENST00000301141.5:c.608delG	19.37:g.41354170delC	ENSP00000301141:p.Arg203fs		46046010	A7YAE5|B2R7F6|P00190|P10890|Q16803|Q4VAT9|Q4VAU0|Q4VAU1|Q9H1Z7|Q9UCU0|Q9UK48	Frame_Shift_Del	DEL	ENST00000301141.5	37	CCDS12568.1																																																																																				0.562	CYP2A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463259.1	NM_000762	
FAM71E2	284418	hgsc.bcm.edu	37	19	55869880	55869903	+	In_Frame_Del	DEL	GCTCCTTCATCTCGCCCCATGGCT	GCTCCTTCATCTCGCCCCATGGCT	-	rs386811061|rs67988285|rs28420516|rs28712579|rs67168196	byFrequency	TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	GCTCCTTCATCTCGCCCCATGGCT	GCTCCTTCATCTCGCCCCATGGCT					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr19:55869880_55869903delGCTCCTTCATCTCGCCCCATGGCT	ENST00000424985.3	-	9	2526_2549	c.2333_2356delAGCCATGGGGCGAGATGAAGGAGC	c.(2332-2358)cagccatggggcgagatgaaggagcca>cca	p.QPWGEMKE778del	CTD-2105E13.6_ENST00000591954.3_In_Frame_Del_p.SHGAR*RS328del	NM_001145402.1	NP_001138874.1	Q8N5Q1	F71E2_HUMAN	family with sequence similarity 71, member E2	778			Missing (in dbSNP:rs35996821). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:17974005}.							NS(1)|breast(3)|endometrium(2)|kidney(1)|skin(1)	8						TCCCAGGGTGGCTCCTTCATCTCGCCCCATGGCTGCTCCTTCAT	0.638														4385	0.875599	0.8427	0.8372	5008	,	,		15757	0.9246		0.8738	False		,,,				2504	0.8988																0			19								1811,457		798,215,121						-2.8	0.0		dbSNP_130	22	3445,651		1537,371,140	no	coding	FAM71E2	NM_001145402.1		2335,586,261	A1A1,A1R,RR		15.8936,20.1499,17.4104				5256,1108				60561715	SO:0001651	inframe_deletion	284418			AL834316		19q13.42	2014-04-02	2007-11-20	2007-11-20	ENSG00000180043	ENSG00000180043			25278	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 16"""	C19orf16			Standard	NM_001145402		Approved	DKFZp434G1729	uc002qkr.2	Q8N5Q1	OTTHUMG00000170357	ENST00000424985.3:c.2333_2356delAGCCATGGGGCGAGATGAAGGAGC	19.37:g.55869880_55869903delGCTCCTTCATCTCGCCCCATGGCT	ENSP00000398617:p.Gln778_Glu785del		60561692	Q8ND99	In_Frame_Del	DEL	ENST00000424985.3	37																																																																																					0.638	FAM71E2-010	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000409063.4	NM_001145402	
DEFB126	81623	hgsc.bcm.edu	37	20	126311	126312	+	Frame_Shift_Del	DEL	CC	CC	-	rs376364807|rs11467417|rs386393058		TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	CC	CC					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr20:126311_126312delCC	ENST00000382398.3	+	2	574_575	c.314_315delCC	c.(313-315)accfs	p.T105fs	DEFB126_ENST00000542572.1_3'UTR	NM_030931.3	NP_112193.1	Q9BYW3	DB126_HUMAN	defensin, beta 126	105					defense response to bacterium (GO:0042742)	cell surface (GO:0009986)|extracellular region (GO:0005576)|glycocalyx (GO:0030112)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			ATGGCTCCTACCCCCGTTTCTC	0.455																																																	0			20								2386,1878		678,1030,424						-4.7	0.0		dbSNP_120	113	4702,3552		1341,2020,766	no	frameshift	DEFB126	NM_030931.2		2019,3050,1190	A1A1,A1R,RR		43.0337,44.0432,43.3775				7088,5430				74312	SO:0001589	frameshift_variant	81623				CCDS12990.1	20p13	2010-03-30	2002-05-09	2002-05-10	ENSG00000125788	ENSG00000125788		"""Defensins, beta"""	15900	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 8"""	C20orf8		11854508	Standard	NM_030931		Approved	bA530N10.1, DEFB-26	uc002wcx.3	Q9BYW3	OTTHUMG00000031616	ENST00000382398.3:c.314_315delCC	20.37:g.126313_126314delCC	ENSP00000371835:p.Thr105fs		74311	Q562G3|Q9H1M5	Frame_Shift_Del	DEL	ENST00000382398.3	37	CCDS12990.1																																																																																				0.455	DEFB126-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077428.2	NM_030931	
RIMBP3C	150221	hgsc.bcm.edu	37	22	21903306	21903307	+	Frame_Shift_Ins	INS	-	-	GG			TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr22:21903306_21903307insGG	ENST00000433039.1	-	1	2443_2444	c.1959_1960insCC	c.(1957-1962)tccggcfs	p.G654fs	RIMBP3C_ENST00000331505.5_Frame_Shift_Ins_p.G560fs|UBE2L3_ENST00000458578.2_5'Flank	NM_001128633.1	NP_001122105.1	A6NJZ7	RIM3C_HUMAN	RIMS binding protein 3C	654										large_intestine(1)	1						GCGATCAAGCCGGAGGCATCGC	0.693																																																	0			22																																								20233307	SO:0001589	frameshift_variant	150221				CCDS46669.1	22q11.21	2008-10-21			ENSG00000183246	ENSG00000183246			33892	protein-coding gene	gene with protein product		612701				17855024	Standard	NM_001128633		Approved		uc002zuq.4	A6NJZ7	OTTHUMG00000150825	ENST00000433039.1:c.1958_1959dupCC	22.37:g.21903307_21903308dupGG	ENSP00000390630:p.Gly654fs		20233306		Frame_Shift_Ins	INS	ENST00000433039.1	37	CCDS46669.1																																																																																				0.693	RIMBP3C-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		XM_036942	
NEFH	4744	hgsc.bcm.edu	37	22	29885581	29885604	+	In_Frame_Del	DEL	AGGCCAAGTCCCCAGAGAAGGAAG	AGGCCAAGTCCCCAGAGAAGGAAG	-	rs267607534|rs373980795|rs267607533|rs149571560|rs79235463|rs200984527|rs370803228	byFrequency	TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	AGGCCAAGTCCCCAGAGAAGGAAG	AGGCCAAGTCCCCAGAGAAGGAAG					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chr22:29885581_29885604delAGGCCAAGTCCCCAGAGAAGGAAG	ENST00000310624.6	+	4	1985_2008	c.1952_1975delAGGCCAAGTCCCCAGAGAAGGAAG	c.(1951-1977)aaggccaagtccccagagaaggaagag>aag	p.AKSPEKEE652del		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	658	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.			Missing (in Ref. 1; CAA33366 and 5; AC000035). {ECO:0000305}.	axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						TCCCCTGAGAAGGCCAAGTCCCCAGAGAAGGAAGAGGCCAAGTC	0.562																																																	0			22																																								28215604	SO:0001651	inframe_deletion	4744				CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"""Intermediate filaments type IV"""	7737	protein-coding gene	gene with protein product		162230	"""neurofilament, heavy polypeptide 200kDa"""				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.1952_1975delAGGCCAAGTCCCCAGAGAAGGAAG	22.37:g.29885581_29885604delAGGCCAAGTCCCCAGAGAAGGAAG	ENSP00000311997:p.Ala652_Glu659del		28215581	B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	In_Frame_Del	DEL	ENST00000310624.6	37	CCDS13858.1																																																																																				0.562	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076	
SHROOM4	57477	hgsc.bcm.edu	37	X	50350758	50350759	+	In_Frame_Ins	INS	-	-	TGCTGCTGCTGT	rs201922875|rs553160982		TCGA-DC-5869-01A-01D-1657-10	TCGA-DC-5869-10A-01D-1657-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2a591f80-4da8-42e1-b6f6-a4b8e05bf084	33e9d02c-c3fb-403e-b626-b62da040983e	g.chrX:50350758_50350759insTGCTGCTGCTGT	ENST00000289292.7	-	6	3666_3667	c.3383_3384insACAGCAGCAGCA	c.(3382-3384)cag>caACAGCAGCAGCAg	p.1128_1128Q>QQQQQ	SHROOM4_ENST00000376020.2_In_Frame_Ins_p.1128_1128Q>QQQQQ|SHROOM4_ENST00000460112.3_In_Frame_Ins_p.1012_1012Q>QQQQQ			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1128	Gln-rich.				actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					cctgttgcttctgctgctgctg	0.589																																																	0			X								12,1892,1813		0,4,5,3,450,721,267,412,263						-6.4	0.0			16	21,2147,4298		1,7,3,9,306,942,586,1095,1163	no	codingComplex	SHROOM4	NM_020717.3		1,11,8,12,756,1663,853,1507,1426	A1A1,A1A2,A1R,A1,A2A2,A2R,A2,RR,R		33.5292,49.0987,39.9882				33,4039,6111				50367499	SO:0001652	inframe_insertion	57477			AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.3372_3383dupACAGCAGCAGCA	X.37:g.50350758_50350759insTGCTGCTGCTGT	ENSP00000289292:p.GlnGlnGlnGln1128dup		50367498	A7E2X9|D6RFW0|Q96LA0	In_Frame_Ins	INS	ENST00000289292.7	37	CCDS35277.1																																																																																				0.589	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717	
